Priority	CHROM	POS	ID	REF	ALT	QUAL	FILTER	GeneName	Description	Func	Gene	GeneDetail	ExonicFunc	AAChange	Gencode	cpgIslandExt	cytoBand	wgRna	targetScanS	tfbsConsSites	genomicSuperDups	Repeat	avsnp147	clinvar_20160302	gwasCatalog	1000g2015aug_Chinese	1000g2015aug_eas	1000g2015aug_all	esp6500siv2_all	ExAC_ALL	ExAC_EAS	NovoDb_WES_SNP	NovoDb_WGS_SNP	SIFT	Polyphen2_HVAR	Polyphen2_HDIV	MutationTaster	LRT	MutationAssessor	FATHMM	SiPhy_29way_logOdds	phyloP46way_placental	phyloP100way_vertebrate	CADD	gerp++gt2	INFO	FORMAT	CHD12	CHD14	CHD15	CHD16	CHD17	CHD19	CHD21	CHD22	CHD23	CHD24	CHD25	CHD26	CHD27	CHD28	CHD29	CHD30	CHD31	CHD32	CHD33	CHD34	CHD36	CHD13	CHD18	CHD20	CHD35	Ori_REF	Ori_ALT	shared_hom	shared_het	OMIM	GWAS_Pubmed_pValue	HGMD_Disease_ID	HGMD_Mutation_URL	PubMedID	GO_BP	GO_CC	GO_MF	KEGG_PATHWAY	PID_PATHWAY	BIOCARTA_PATHWAY	REACTOME_PATHWAY	ACMG
L	1	5935162	rs1287637	A	T	224.12	PASS	NPHP4	nephronophthisis 4	splicing	NM_001291593,NM_001291594,NM_015102	NM_001291593:exon18:c.1279-2T>A;NM_001291594:exon17:c.1282-2T>A;NM_015102:exon21:c.2818-2T>A	.	.	ENST00000478423.2,ENST00000378156.4	.	1p36.31	.	.	.	.	.	rs1287637	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153587.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.792359	0.7907	0.843251	0.8431	0.8362	0.8179	0.776416580398	0.806490454327	.	.	.	.	.	.	.	6.5729	0.745	0.453	2.378514,18.68	4.93	AC=41;AN=48;BQB=1;DP4=77,80,364,307;DP=1123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.36573	GT:DP:DV:PL	1/1:31:30:255,57,0	.	0/1:49:19:255,0,255	1/1:32:32:255,96,0	1/1:28:28:255,84,0	0/1:39:11:255,0,255	1/1:30:29:255,53,0	0/1:43:22:255,0,255	1/1:25:25:255,75,0	1/1:24:24:255,72,0	1/1:34:34:255,102,0	1/1:27:27:255,81,0	1/1:29:29:255,87,0	0/1:50:24:255,0,255	0/1:35:18:255,0,255	1/1:26:26:255,78,0	1/1:40:40:255,120,0	1/1:24:24:255,72,0	1/1:37:37:255,111,0	1/1:44:44:255,132,0	1/1:41:41:255,123,0	1/1:62:62:255,187,0	0/1:21:7:208,0,255	0/1:30:11:252,0,255	1/1:27:27:255,81,0	A	T	17	7	Nephronophthisis 4, 606966 (3); Senior-Loken syndrome 4, 606996 (3)	.	Altered splicing(CS057899)	IVS20 as A-T -2|c.2818-2A>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16131712&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20844548&dopt=Abstract)	16131712|20844548|21422230|19755384|16339905|15661758|12244321|12205563|11920287|9734811|6837691|1248184	.	.	.	.	.	.	REACTOME_SIGNALING_BY_HIPPO	PS1,PS3,BA1
L	1	9323910	rs6688832	G	A	223.53	PASS	H6PD	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	exonic	NM_001282587,NM_004285	.	missense SNV	H6PD:NM_001282587:exon5:c.G1391A:p.R464Q,H6PD:NM_004285:exon5:c.G1358A:p.R453Q	ENST00000377403.2,ENST00000602477.1	.	1p36.22	.	.	.	.	.	rs6688832	CLINSIG=Uncertain significance;CLNDBN=Cortisone_reductase_deficiency_1;CLNACC=RCV000017511.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3551716:604931	.	0.490033	0.4812	0.389577	0.3066	0.2851	0.4645	0.476263493109	0.4747595625	0.573,T	0.001,B	0.001,B	1,P	0.301437,N	1.655,L	-4.83,D	4.5195	-0.530	-0.092	.	.	AC=24;AN=38;BQB=0.50687;DP4=463,229,784,409;DP=2514;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.219636;SF=1,2,3,4,5,8,9,10,11,12,13,14,15,17,18,20,21,22,24;SGB=-0.693145;VDB=0.77777	GT:DP:DV:PL	.	0/1:78:41:255,0,255	0/1:110:56:255,0,255	0/1:105:49:255,0,255	0/1:76:45:255,0,255	1/1:165:165:255,255,0	.	.	0/1:96:42:255,0,255	0/1:62:28:255,0,255	0/1:105:36:255,0,255	1/1:85:85:255,255,0	0/1:103:61:255,0,255	0/1:135:71:255,0,255	0/1:106:55:255,0,255	0/1:88:39:255,0,255	.	0/1:66:28:255,0,255	0/1:80:41:255,0,255	.	1/1:77:77:255,232,0	1/1:163:163:255,255,0	1/1:43:43:255,129,0	.	0/1:142:68:255,0,255	G	A	5	14	Cortisone reductase deficiency 1, 604931 (3)	.	Cortisone reductase deficiency, partial(CM031993)	CGG-CAG|Arg453Gln|c.1358G>A|p.R453Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12858176&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22306327&dopt=Abstract)	12858176|20981092|22306327|18628520|18222920|17062770|16817821|16091483|15827106|15774558|12858176|11150889|10522997|10349511|8478014|7316480|7106784|6961883|4169027|950237|752473	.	.	OXIDOREDUCTASE_ACTIVITY_GO_0016616;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS	KEGG_PENTOSE_PHOSPHATE_PATHWAY	.	.	.	PS1,PS3,BA1
L	1	11090916	rs12711521	C	A	195.27	PASS	MASP2	mannan-binding lectin serine peptidase 2	exonic	NM_006610	.	missense SNV	MASP2:NM_006610:exon9:c.G1111T:p.D371Y	ENST00000400897.3	.	1p36.22	.	.	.	.	.	rs12711521	.	.	0.659468	0.6657	0.58127	0.6298	0.7359	0.6551	0.637059669219	0.663461209135	0.057,T	0.566,P	0.748,P	0.0604378,P	0.004558,N	2.855,M	-0.28,T	10.5831	0.645	0.999	2.949393,22.1	3.5	AC=30;AN=38;BQB=0.129211;DP4=41,37,152,140;DP=521;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.637085;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,16,17,20,21,22,23;SGB=-0.692352;VDB=0.0475012	GT:DP:DV:PL	.	1/1:21:21:255,63,0	1/1:21:21:255,63,0	.	1/1:20:20:255,60,0	1/1:22:22:255,66,0	1/1:28:28:255,84,0	1/1:17:17:255,51,0	0/1:19:8:186,0,255	0/1:13:8:166,0,148	1/1:25:25:255,75,0	1/1:20:19:255,25,0	0/1:22:13:255,0,198	0/1:15:3:61,0,255	1/1:16:16:255,48,0	.	1/1:20:20:255,60,0	0/1:18:12:255,0,193	.	.	0/1:24:9:255,0,255	0/1:18:8:199,0,233	0/1:12:3:93,0,255	1/1:19:19:255,57,0	.	C	A	11	8	MASP2 deficiency, 613791 (3)	.	HCV infection, susceptibility to(CM117552)	TAT-GAT|Tyr371Asp|c.1111T>G|p.Y371D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21843573&dopt=Abstract)	21843573|12904520|10393416|10330290|10092804|9087411	.	.	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_CREATION_OF_C4_AND_C2_ACTIVATORS;REACTOME_INITIAL_TRIGGERING_OF_COMPLEMENT	PS1,PS3,BA1
L	1	11850927	rs2274976	C	T	222	PASS	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	exonic	NM_005957	.	missense SNV	MTHFR:NM_005957:exon12:c.G1781A:p.R594Q	ENST00000376592.1,ENST00000376583.3,ENST00000376590.3,ENST00000376585.1	.	1p36.22	.	.	Score=885;Name=V$CEBPB_02	.	.	rs2274976	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000174348.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.114618	0.1181	0.0744808	0.0406	0.0563	0.1141	0.0880551528331	0.109375050481	1.0,T	0.0,B	0.0,B	0.993714,P	0.000002,N	-1.82,N	-1.42,T	9.1481	0.336	3.211	2.263647,17.93	2.99	AC=4;AN=8;BQB=0.878805;DP4=36,59,41,50;DP=244;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977536;SF=5,11,12,20;SGB=-0.693021;VDB=0.00435842	GT:DP:DV:PL	.	.	.	.	.	0/1:56:27:255,0,255	.	.	.	.	.	0/1:39:22:255,0,255	0/1:44:21:255,0,255	.	.	.	.	.	.	.	0/1:47:21:255,0,255	.	.	.	.	C	T	0	4	Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3)	.	Cleft lip and/or palate, increased risk(CM056008)	CGG-CAG|Arg594Gln|c.1781G>A|p.R594Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20890936&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21228398&dopt=Abstract)	20890936|20981092|21228398|20154341|18583979|17921192|17726486|17543893|17436239|17409006|17350979|17284634|16800002|16712703|16538173|16470725|16402130|16365871|16244782|16172608|15951337|15808177|15704130|15565101|15543147|15534175|15173232|15154859|15103709|15054400|12920077|12840091|12796225|12733064|12673793|12560871|12529699|12406076|12400059|12387655|12384649|12383688|12356947|12221667|12196644|12165282|12154064|12095808|12080391|11938441|11929966|11916316|11888585|11863127|11807890|11781870|11752418|11742092|11590551|11140843|11080594|10958762|10930360|10869114|10767000|10732818|10679944|10677336|10677336|10440833|10323741|10196703|10190487|9863598|9843036|9798595|9789068|9781030|9737770|9680386|9545406|9545395|9453374|9372726|9341863|9244205|9192280|9133512|9068801|8994411|8981967|8940272|8903338|8892013|8875901|8837319|8826441|8771990|8616944|8554066|8554053|8542260|7920641|7741859|7726158|7647779|7564788|6381059|3580562|3347350|1364245	CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	PS1,PS3,BA1
L	1	11854457	rs4846051	G	A	228	PASS	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	exonic	NM_005957	.	synonymous SNV	MTHFR:NM_005957:exon8:c.C1305T:p.F435F	ENST00000376592.1,ENST00000376583.3,ENST00000376590.3,ENST00000376585.1	.	1p36.22	.	.	.	.	.	rs4846051	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153514.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.995017	0.996	0.902955	0.8905	0.9697	0.9990	0.994640203675	0.995192540865	.	.	.	.	.	.	.	.	-0.249	0.631	0.936650,10.29	.	AC=50;AN=50;DP4=0,0,1104,432;DP=2126;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.210557	GT:DP:DV:PL	1/1:58:58:255,175,0	1/1:67:67:255,202,0	1/1:73:73:255,220,0	1/1:51:51:255,154,0	1/1:57:57:255,172,0	1/1:71:71:255,214,0	1/1:53:53:255,160,0	1/1:65:65:255,196,0	1/1:58:58:255,175,0	1/1:46:46:255,138,0	1/1:67:67:255,202,0	1/1:47:47:255,141,0	1/1:54:54:255,163,0	1/1:78:78:255,235,0	1/1:73:73:255,220,0	1/1:52:52:255,157,0	1/1:64:64:255,193,0	1/1:48:48:255,144,0	1/1:58:58:255,175,0	1/1:49:49:255,148,0	1/1:89:89:255,255,0	1/1:82:82:255,247,0	1/1:28:28:255,84,0	1/1:68:68:255,205,0	1/1:80:80:255,241,0	G	A	25	0	Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3)	.	Preeclampsia, association with(CM044675)	TTT-TTC|Phe435Phe|c.1305T>C|p.F435F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15059157&dopt=Abstract)	15059157|20154341|18583979|17921192|17726486|17543893|17436239|17409006|17350979|17284634|16800002|16712703|16538173|16470725|16402130|16365871|16244782|16172608|15951337|15808177|15704130|15565101|15543147|15534175|15173232|15154859|15103709|15054400|12920077|12840091|12796225|12733064|12673793|12560871|12529699|12406076|12400059|12387655|12384649|12383688|12356947|12221667|12196644|12165282|12154064|12095808|12080391|11938441|11929966|11916316|11888585|11863127|11807890|11781870|11752418|11742092|11590551|11140843|11080594|10958762|10930360|10869114|10767000|10732818|10679944|10677336|10677336|10440833|10323741|10196703|10190487|9863598|9843036|9798595|9789068|9781030|9737770|9680386|9545406|9545395|9453374|9372726|9341863|9244205|9192280|9133512|9068801|8994411|8981967|8940272|8903338|8892013|8875901|8837319|8826441|8771990|8616944|8554066|8554053|8542260|7920641|7741859|7726158|7647779|7564788|6381059|3580562|3347350|1364245	CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	PS1,PS3,BA1
L	1	11854476	rs1801131	T	G	222	PASS	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	exonic	NM_005957	.	missense SNV	MTHFR:NM_005957:exon8:c.A1286C:p.E429A	ENST00000376592.1,ENST00000376583.3,ENST00000376590.3,ENST00000376585.1	.	1p36.22	.	.	.	.	.	rs1801131	CLINSIG=Benign|other|Uncertain significance|not provided;CLNDBN=MTHFR_deficiency\x2c_thermolabile_type|Schizophrenia\x2c_susceptibility_to|Gastrointestinal_Stromal_Tumors|not_provided;CLNACC=RCV000003698.3|RCV000003699.3|RCV000144922.1|RCV000153515.3;CLNDSDB=MedGen|.|MedGen:OMIM:ORPHA|MedGen;CLNDSDBID=C1856059|.|C0238198:606764:44890|CN221809	.	0.22093	0.2192	0.249401	0.2596	0.2950	0.2148	0.180704431853	0.198317019231	0.1,T	0.065,B	0.462,P	1.65022e-06,P	0.000001,D	1.45,L	-0.78,T	13.7416	1.898	3.791	2.566020,19.89	4.74	AC=10;AN=20;BQB=0.53413;DP4=222,98,218,106;DP=858;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.453351;SF=2,5,10,11,12,15,17,18,19,20;SGB=-0.693139;VDB=0.08791	GT:DP:DV:PL	.	.	0/1:73:36:255,0,255	.	.	0/1:77:42:255,0,255	.	.	.	.	0/1:75:41:255,0,255	0/1:49:25:255,0,255	0/1:58:28:255,0,255	.	.	0/1:55:21:255,0,255	.	0/1:49:20:255,0,255	0/1:64:33:255,0,255	0/1:57:28:255,0,255	0/1:87:50:255,0,255	.	.	.	.	T	G	0	10	Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia, susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism, susceptibility to}, 188050 (3)	.	Neural tube defect, increased risk, association with(CM981315)	GAA-GCA|Glu429Ala|c.1286A>C|p.E429A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9545395&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18583979&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21080081&dopt=Abstract)	9545395|18583979|21080081|20154341|18583979|17921192|17726486|17543893|17436239|17409006|17350979|17284634|16800002|16712703|16538173|16470725|16402130|16365871|16244782|16172608|15951337|15808177|15704130|15565101|15543147|15534175|15173232|15154859|15103709|15054400|12920077|12840091|12796225|12733064|12673793|12560871|12529699|12406076|12400059|12387655|12384649|12383688|12356947|12221667|12196644|12165282|12154064|12095808|12080391|11938441|11929966|11916316|11888585|11863127|11807890|11781870|11752418|11742092|11590551|11140843|11080594|10958762|10930360|10869114|10767000|10732818|10679944|10677336|10677336|10440833|10323741|10196703|10190487|9863598|9843036|9798595|9789068|9781030|9737770|9680386|9545406|9545395|9453374|9372726|9341863|9244205|9192280|9133512|9068801|8994411|8981967|8940272|8903338|8892013|8875901|8837319|8826441|8771990|8616944|8554066|8554053|8542260|7920641|7741859|7726158|7647779|7564788|6381059|3580562|3347350|1364245	CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	PS1,PS3,BA1
L	1	11907648	rs5063	C	T	221.83	PASS	NPPA	natriuretic peptide A	exonic	NM_006172	.	missense SNV	NPPA:NM_006172:exon1:c.G94A:p.V32M	ENST00000376480.3,ENST00000446542.1,ENST00000376476.1,ENST00000400892.2	.	1p36.22	.	.	.	.	.	rs5063	.	.	0.111296	0.1151	0.0734824	0.0516	0.0562	0.1135	0.0849924900459	0.106971391827	0.243,T	0.058,B	0.783,P	0.998226,D	0.397680,N	1.84,L	0.77,T	4.5953	-0.327	-0.378	.	.	AC=6;AN=12;BQB=0.88101;DP4=127,65,93,63;DP=488;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994773;SF=0,5,9,11,12,20;SGB=-0.692717;VDB=0.0688393	GT:DP:DV:PL	0/1:55:23:255,0,255	.	.	.	.	0/1:93:47:255,0,255	.	.	.	0/1:57:25:255,0,255	.	0/1:39:12:255,0,255	0/1:47:20:255,0,255	.	.	.	.	.	.	.	0/1:57:29:255,0,255	.	.	.	.	C	T	0	6	Atrial fibrillation, familial, 6, 612201 (3); Atrial standstill 2, 615745 (3)	.	Lower diastolic blood pressure, association with(CM057551)	GTG-ATG|Val32Met|c.94G>A|p.V32M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16368448&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17984371&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20064500&dopt=Abstract)	16368448|17984371|20064500|23275345|20064500|18614783|12023302|7839143|6542248|6238331|6236804|6225642|6203042|6097248|6095119|6095118|6091122|3157062|3001722|2961331|2936957|2936330|2935330|2934979|2932797|2932646|2932472	REGULATION_OF_BIOLOGICAL_QUALITY;REGULATION_OF_BLOOD_PRESSURE;SYSTEM_PROCESS	.	.	.	PID_AP1_PATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_NFAT_PATHWAY	REACTOME_YAP1_AND_WWTR1_TAZ_STIMULATED_GENE_EXPRESSION;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_AMYLOIDS	PS1,PS3,BA1
L	1	16351275	rs10927887	A	G	202.96	PASS	CLCNKA	chloride channel, voltage-sensitive Ka	exonic	NM_001042704,NM_004070	.	missense SNV	CLCNKA:NM_001042704:exon4:c.A247G:p.R83G,CLCNKA:NM_004070:exon4:c.A247G:p.R83G	ENST00000464764.1,ENST00000331433.4,ENST00000420078.1,ENST00000439316.2,ENST00000375692.1	.	1p36.13	.	.	.	Score=0.908085;Name=chr1:16368767	.	rs10927887	.	.	0.774086	0.7688	0.642971	0.6009	0.5636	0.7458	0.774086	0.764422682692	0.389,T	0.0,B	0.0,B	0.999987,P	0.728172,N	1.385,L	-3.05,D	7.3212	-0.153	0.593	.	.	AC=39;AN=46;BQB=0.156944;DP4=106,4,543,24;DP=835;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.933806;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.693021;VDB=0.375827	GT:DP:DV:PL	1/1:27:27:255,81,0	1/1:27:27:255,81,0	0/1:27:11:213,0,172	0/1:27:14:190,0,202	0/1:17:7:115,0,217	1/1:42:42:255,126,0	0/1:28:15:230,0,211	.	1/1:6:6:161,18,0	1/1:14:14:255,42,0	1/1:18:18:255,54,0	1/1:26:26:255,78,0	1/1:37:37:255,111,0	1/1:43:43:255,129,0	0/1:28:10:177,0,255	0/1:39:14:209,0,223	1/1:38:38:255,114,0	0/1:28:13:235,0,230	1/1:23:23:255,69,0	1/1:38:38:255,114,0	1/1:31:31:255,93,0	1/1:52:52:255,157,0	1/1:14:14:231,42,0	.	1/1:47:47:255,141,0	A	G	16	7	Bartter syndrome, type 4b, digenic, 613090 (3)	.	Heart failure, increased risk(CM110909)	AGG-GGG|Arg83Gly|c.247A>G|p.R83G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21248228&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23850580&dopt=Abstract)	21248228|23850580|18310267|15044642|11734858|9916798|9326936|9046241|8812470|8041726	ESTABLISHMENT_OF_LOCALIZATION;EXCRETION;SECRETION;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	16356501	rs1805152	G	A	225.5	PASS	CLCNKA	chloride channel, voltage-sensitive Ka	exonic	NM_001042704,NM_001257139,NM_004070	.	missense SNV	CLCNKA:NM_001257139:exon13:c.G1210A:p.A404T,CLCNKA:NM_001042704:exon14:c.G1339A:p.A447T,CLCNKA:NM_004070:exon14:c.G1339A:p.A447T	ENST00000464764.1,ENST00000331433.4,ENST00000420078.1,ENST00000439316.2,ENST00000375692.1	.	1p36.13	.	.	Score=1000;Name=V$STAT6_02	Score=0.908085;Name=chr1:16368767	.	rs1805152	.	.	0.772425	0.7669	0.648562	0.6013	0.5612	0.7457	0.758039897397	0.763220853365	0.122,T	0.008,B	0.006,B	0.99286,P	0.019415,N	1.55,L	-3.11,D	5.6763	0.223	0.055	.	.	AC=35;AN=44;BQB=0.841258;DP4=106,86,450,352;DP=1351;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999197;SF=0,1,2,3,4,5,6,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.693147;VDB=0.590972	GT:DP:DV:PL	1/1:48:48:255,144,0	1/1:30:30:255,90,0	0/1:41:25:255,0,255	0/1:47:15:255,0,255	0/1:38:19:255,0,255	0/1:73:40:255,0,255	0/1:41:23:255,0,255	.	.	0/1:36:19:255,0,255	1/1:21:21:255,63,0	1/1:36:36:255,108,0	1/1:50:50:255,151,0	1/1:70:70:255,211,0	0/1:57:36:255,0,255	0/1:39:24:255,0,255	1/1:51:51:255,154,0	0/1:41:20:255,0,255	1/1:35:35:255,105,0	1/1:65:65:255,196,0	1/1:40:40:255,120,0	1/1:61:61:255,184,0	1/1:26:26:255,78,0	.	1/1:48:48:255,144,0	G	A	13	9	Bartter syndrome, type 4b, digenic, 613090 (3)	.	Increased blood pressure after Na-load, association with(CM072953)	ACC-GCC|Thr447Ala|c.1339A>G|p.T447A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17510212&dopt=Abstract)	17510212|18310267|15044642|11734858|9916798|9326936|9046241|8812470|8041726	ESTABLISHMENT_OF_LOCALIZATION;EXCRETION;SECRETION;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	17660499	rs874881	G	C	220	PASS	PADI4	peptidyl arginine deiminase, type IV	exonic	NM_012387	.	missense SNV	PADI4:NM_012387:exon3:c.G335C:p.G112A	ENST00000602074.1,ENST00000375448.4,ENST00000375453.1	.	1p36.13	.	.	Score=933;Name=V$PAX4_03	.	.	rs874881	.	.	0.581395	0.5585	0.521965	0.5291	0.5462	0.5812	0.574272525268	0.587740180288	0.363,T	0.19,B	0.639,P	0.289577,P	0.000534,D	1.715,L	3.16,T	13.6003	2.339	3.213	1.496492,13.29	4.74	AC=28;AN=40;BQB=0.9926;DP4=188,46,377,98;DP=943;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.444771;SF=0,2,3,4,5,6,7,8,9,10,12,13,14,16,17,18,19,20,21,22;SGB=-0.692352;VDB=0.118983	GT:DP:DV:PL	0/1:40:21:255,0,255	.	0/1:35:20:255,0,255	0/1:33:15:240,0,255	1/1:33:33:255,99,0	0/1:43:26:255,0,255	0/1:22:8:202,0,255	0/1:47:24:255,0,255	1/1:28:28:255,84,0	1/1:34:34:255,102,0	1/1:31:31:255,93,0	.	0/1:32:16:255,0,255	0/1:49:20:255,0,255	1/1:31:31:255,93,0	.	0/1:42:18:255,0,255	0/1:25:10:235,0,231	0/1:35:17:255,0,255	1/1:32:31:255,59,0	0/1:44:19:255,0,255	1/1:51:51:255,154,0	1/1:22:22:255,66,0	.	.	G	C	8	12	{Rheumatoid arthritis, susceptibility to}, 180300 (3)	.	Rheumatoid arthritis, association with(CM1211521)	GCG-GGG|Ala112Gly|c.335C>G|p.A112G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22505706&dopt=Abstract)	22505706|24463520|20733033|16000323|15345777|15339660|15150696|12833157|10488123	BIOPOLYMER_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS	.	.	.	.	PS1,PS3,BA1
L	1	20977000	rs1043424	A	C	221.27	PASS	PINK1	PTEN induced putative kinase 1	exonic	NM_032409	.	missense SNV	PINK1:NM_032409:exon8:c.A1562C:p.N521T	ENST00000451424.1,ENST00000492302.1,ENST00000321556.4	.	1p36.12	.	.	Score=808;Name=V$IRF7_01	.	.	rs1043424	.	.	0.380399	0.3571	0.300519	0.2700	0.2974	0.3596	0.392802552833	0.382211908654	0.247,T	0.006,B	0.022,B	1,P	0.169362,N	1.67,L	-0.81,T	7.3998	0.382	0.601	1.698720,14.40	.	AC=13;AN=22;BQB=0.220061;DP4=104,37,154,42;DP=441;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.925537;SF=0,1,4,5,8,10,12,14,16,20,24;SGB=-0.686358;VDB=0.986023	GT:DP:DV:PL	0/1:38:14:255,0,255	0/1:22:14:255,0,189	.	.	0/1:39:23:255,0,237	0/1:44:24:255,0,255	.	.	0/1:26:13:255,0,255	.	0/1:34:16:255,0,255	.	0/1:25:15:255,0,212	.	1/1:22:22:255,66,0	.	0/1:28:11:237,0,255	.	.	.	0/1:27:12:255,0,255	.	.	.	1/1:32:32:255,96,0	A	C	2	9	Parkinson disease 6, early onset, 605909 (3)	.	Diabetes, type 2, increased risk(CM1110088)	AAT-ACT|Asn521Thr|c.1562A>C|p.N521T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21677397&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23459931&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23303188&dopt=Abstract)	21677397|23459931|23303188|26266977|24896179|24784582|24652937|24270810|23620051|22582012|21555650|21426348|21355049|20126261|20098416|19880420|19285945|19276113|19229105|18704525|18687901|18687899|18685134|18541801|18524835|18230723|18003639|17030667|16969854|16966503|16938835|16818890|16769864|16672981|16672980|16632486|16207731|16079129|15970950|15955953|15824318|15596610|15505171|15349871|15349870|15349860|15087508|11494141|11325847	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_PARKINSONS_DISEASE	.	.	.	PS1,PS3,BA1
L	1	22965438	rs172378	A	G	224	PASS	C1QA	complement component 1, q subcomponent, A chain	exonic	NM_015991	.	synonymous SNV	C1QA:NM_015991:exon3:c.A276G:p.G92G	ENST00000402322.1,ENST00000374642.3	.	1p36.12	.	.	.	.	.	rs172378	.	.	0.614618	0.6111	0.616414	0.4880	0.5387	0.6170	0.593414986217	0.602163444712	0.371,T	.	.	7.26488e-14,P	0.920650,N	.	.	0.3476	-0.601	-0.295	.	.	AC=28;AN=42;BQB=0.889907;DP4=441,206,861,338;DP=2380;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99736;SF=0,1,3,4,5,7,8,9,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.147823	GT:DP:DV:PL	1/1:80:80:255,241,0	0/1:77:31:255,0,255	.	0/1:82:32:255,0,255	1/1:90:90:255,255,0	1/1:120:120:255,255,0	.	1/1:100:100:255,255,0	0/1:74:37:255,0,255	0/1:77:39:255,0,255	.	0/1:61:23:255,0,255	1/1:88:88:255,255,0	1/1:123:123:255,255,0	1/1:73:73:255,220,0	0/1:57:23:255,0,255	0/1:102:43:255,0,255	0/1:77:30:255,0,255	.	0/1:98:43:255,0,255	0/1:81:45:255,0,255	0/1:142:67:255,0,255	0/1:44:15:255,0,255	0/1:105:44:255,0,255	0/1:95:53:255,0,255	A	G	7	14	C1q deficiency, 613652 (3)	.	Subacute cutaneous lupus erythematosus, association with(CM035950)	GGG-GGA|Gly92Gly|c.276G>A|p.G92G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12630757&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20332777&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26017655&dopt=Abstract)	12630757|20332777|26017655|24626930|21664996|19620499|18083105|9590289|9225968|8840296|7594474|7402297|6981115|4375969|3180845|1706597|1537612|513085	CELL_CELL_SIGNALING	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_PRION_DISEASES;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	BIOCARTA_CLASSIC_PATHWAY;BIOCARTA_COMP_PATHWAY	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_CREATION_OF_C4_AND_C2_ACTIVATORS;REACTOME_INITIAL_TRIGGERING_OF_COMPLEMENT	PS1,PS3,BA1
L	1	31347320	rs2282440	G	A	223.95	PASS	SDC3	syndecan 3	exonic	NM_014654	.	missense SNV	SDC3:NM_014654:exon4:c.C986T:p.T329I	ENST00000336798.7,ENST00000339394.6	.	1p35.2	.	.	.	.	.	rs2282440	CLINSIG=other;CLNDBN=Obesity\x2c_association_with;CLNACC=RCV000013592.17;CLNDSDB=.;CLNDSDBID=.	.	0.51495	0.5218	0.161142	0.0091	0.0858	0.5427	0.52603341807	0.520432680288	0.449,T	0.098,B	0.192,B	0.511288,P	0.499412,N	0.69,N	1.85,T	3.9164	2.535	3.362	2.745126,21.1	3.85	AC=28;AN=42;BQB=0.416634;DP4=435,208,855,385;DP=2667;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.648297;SF=0,1,2,3,5,6,8,9,10,11,12,13,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.46298	GT:DP:DV:PL	0/1:81:39:255,0,255	0/1:82:38:255,0,255	0/1:89:40:255,0,255	1/1:87:87:255,255,0	.	1/1:122:122:255,255,0	1/1:76:76:255,229,0	.	1/1:73:73:255,220,0	0/1:68:34:255,0,255	1/1:93:93:255,255,0	1/1:86:86:255,255,0	0/1:73:36:255,0,255	0/1:113:58:255,0,255	.	.	0/1:82:39:255,0,255	0/1:72:47:255,0,255	1/1:86:86:255,255,0	0/1:96:42:255,0,255	0/1:91:40:255,0,255	0/1:139:73:255,0,255	0/1:38:22:255,0,255	0/1:132:58:255,0,255	0/1:104:51:255,0,255	G	A	7	14	{Obesity, association with}, 601665 (3)	.	Obesity, association with(CM066224)	ACA-ATA|Thr329Ile|c.986C>T|p.T329I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17018662&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19820907&dopt=Abstract)	17018662|19820907|18040049|17018662|15520868|15371336|12530973|11461706|7959737|1556152	.	.	.	KEGG_ECM_RECEPTOR_INTERACTION;KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_SYNDECAN_3_PATHWAY	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	1	46870761	rs324420	C	A	222	PASS	FAAH	fatty acid amide hydrolase	exonic	NM_001441	.	missense SNV	FAAH:NM_001441:exon3:c.C385A:p.P129T	ENST00000243167.8,ENST00000493735.1	.	1p33	.	.	Score=674;Name=V$P53_01	.	.	rs324420	CLINSIG=other;CLNDBN=Polysubstance_abuse\x2c_susceptibility_to;CLNACC=RCV000007116.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1847831:606581	.	0.167774	0.1756	0.261581	0.2503	0.2333	0.1754	0.186829975498	0.157451920673	0.318,T	0.018,B	0.014,B	1,P	0.067550,N	1.295,L	0.61,T	7.2179	2.417	0.727	2.831341,21.5	3.08	AC=7;AN=14;BQB=0.804701;DP4=170,66,144,79;DP=653;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.760518;SF=1,2,3,7,11,19,20;SGB=-0.693097;VDB=0.374988	GT:DP:DV:PL	.	0/1:64:30:255,0,255	0/1:48:23:255,0,255	0/1:59:27:255,0,255	.	.	.	0/1:73:41:255,0,255	.	.	.	0/1:65:27:255,0,255	.	.	.	.	.	.	.	0/1:69:32:255,0,255	0/1:81:43:255,0,255	.	.	.	.	C	A	0	7	{Drug addiction, susceptibility to}, 606581 (3)	.	Drug/alcohol abuse, association with(CM023913)	CCA-ACA|Pro129Thr|c.385C>A|p.P129T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12060782&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25077173&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15254019&dopt=Abstract)	12060782|25077173|15254019|16972078|15254019|12459591|12060782|11470906|9878243|9122178|8900284	CARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS	INSOLUBLE_FRACTION;CELL_FRACTION;MEMBRANE_FRACTION	HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_LINEAR_AMIDES	.	.	.	.	PS1,PS3,BA1
L	1	53676401	rs2229291	T	G	220.82	PASS	CPT2	carnitine palmitoyltransferase 2	exonic	NM_000098	.	missense SNV	CPT2:NM_000098:exon4:c.T1055G:p.F352C	ENST00000452466.1,ENST00000371486.3	.	1p32.3	.	.	.	.	.	rs2229291	CLINSIG=other|Benign|Benign;CLNDBN=Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|Carnitine_palmitoyltransferase_II_deficiency;CLNACC=RCV000023026.2|RCV000078115.4|RCV000202443.1;CLNDSDB=MedGen:OMIM:ORPHA|MedGen|MedGen:ORPHA:SNOMED_CT;CLNDSDBID=C3280160:614212:263524|CN169374|C0342790:157:238002005	.	0.186047	0.1696	0.0465256	0.0072	0.0218	0.2056	0.205207012251	0.198317721154	0.0,D	0.987,D	0.999,D	1.14113e-05,P	0.000032,D	3.265,M	-2.66,D	6.0763	0.420	1.160	4.574825,24.4	3.38	AC=12;AN=22;BQB=0.846482;DP4=106,103,105,125;DP=523;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.137552;SF=1,5,6,8,9,10,11,14,20,21,23;SGB=-0.680642;VDB=0.184576	GT:DP:DV:PL	.	0/1:24:12:236,0,255	.	.	.	1/1:46:46:255,138,0	0/1:46:21:255,0,255	.	0/1:39:22:255,0,255	0/1:30:16:255,0,255	0/1:33:20:255,0,255	0/1:34:17:255,0,255	.	.	0/1:35:15:255,0,255	.	.	.	.	.	0/1:47:18:255,0,255	0/1:72:29:255,0,255	.	0/1:33:14:255,0,255	.	T	G	1	10	Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency, hepatic, type II, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)	.	Carnitine palmitoyltransferase 2 deficiency(CM065101)	TTT-TGT|Phe352Cys|c.1055T>G|p.F352C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16996287&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15811315&dopt=Abstract)	16996287|20981092|15811315|21697855|20934285|18550408|18306170|17709715|15811315|15622536|12673791|12560872|12410208|11477613|11389301|10873395|10398215|10090476|8888280|8786066|8682496|8651281|8358442|8086471|7896283|7892212|7711730|3052273|1999498|1988962|1528846|1339389|736528	.	.	.	KEGG_FATTY_ACID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PS1,PS3,BA1
L	1	53676448	rs1799821	G	A	225.42	PASS	CPT2	carnitine palmitoyltransferase 2	exonic	NM_000098	.	missense SNV	CPT2:NM_000098:exon4:c.G1102A:p.V368I	ENST00000452466.1,ENST00000371486.3	.	1p32.3	.	.	.	.	.	rs1799821	CLINSIG=other|Benign|Benign;CLNDBN=Encephalopathy\x2c_acute\x2c_infection-induced\x2c_4\x2c_susceptibility_to|not_specified|Carnitine_palmitoyltransferase_II_deficiency;CLNACC=RCV000023026.2|RCV000078116.5|RCV000202483.1;CLNDSDB=MedGen:OMIM:ORPHA|MedGen|MedGen:ORPHA:SNOMED_CT;CLNDSDBID=C3280160:614212:263524|CN169374|C0342790:157:238002005	.	0.730897	0.7242	0.413139	0.4564	0.4841	0.7326	0.699846611026	0.725961399038	1.0,T	0.004,B	0.011,B	0.998853,P	0.005156,N	-0.74,N	-2.47,D	10.7366	0.038	-0.053	.	.	AC=39;AN=48;BQB=0.998031;DP4=111,50,474,232;DP=1094;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.616528;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693079;VDB=0.373811	GT:DP:DV:PL	1/1:29:29:255,87,0	1/1:18:18:255,54,0	1/1:36:36:255,108,0	0/1:30:13:255,0,255	.	1/1:53:53:255,160,0	0/1:42:17:255,0,255	1/1:35:35:255,105,0	0/1:37:19:255,0,255	0/1:40:20:255,0,255	0/1:34:17:255,0,255	0/1:31:13:255,0,255	1/1:28:28:255,84,0	0/1:28:17:255,0,237	0/1:34:14:255,0,255	1/1:30:30:255,90,0	1/1:40:40:255,120,0	0/1:27:12:247,0,255	1/1:46:46:255,138,0	1/1:36:36:255,108,0	1/1:43:43:255,129,0	1/1:57:57:255,172,0	1/1:25:25:255,75,0	1/1:41:41:255,123,0	1/1:47:47:255,141,0	G	A	15	9	Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency, hepatic, type II, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)	.	Infuenza infection-associated encephalopathy(CM139511)	GTC-ATC|Val368Ile|c.1102G>A|p.V368I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21697855&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23700290&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20934285&dopt=Abstract)	21697855|23700290|20934285|21697855|20934285|18550408|18306170|17709715|15811315|15622536|12673791|12560872|12410208|11477613|11389301|10873395|10398215|10090476|8888280|8786066|8682496|8651281|8358442|8086471|7896283|7892212|7711730|3052273|1999498|1988962|1528846|1339389|736528	.	.	.	KEGG_FATTY_ACID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PS1,PS3,BA1
L	1	53712727	rs5174	C	T	222	PASS	LRP8	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	exonic	NM_001018054,NM_004631,NM_017522,NM_033300	.	missense SNV	LRP8:NM_017522:exon16:c.G2066A:p.R689Q,LRP8:NM_033300:exon17:c.G2345A:p.R782Q,LRP8:NM_001018054:exon18:c.G2678A:p.R893Q,LRP8:NM_004631:exon19:c.G2855A:p.R952Q	ENST00000465675.1,ENST00000371454.2,ENST00000354412.3,ENST00000306052.6,ENST00000347547.2	.	1p32.3	.	.	.	.	.	rs5174	CLINSIG=other;CLNDBN=Myocardial_infarction_1;CLNACC=RCV000007411.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838021:608446	.	0.0249169	0.0327	0.144369	0.2896	0.2953	0.0299	0.0260336509954	0.0264422810096	0.039,D	0.996,D	1.0,D	2.52351e-06,P	.	0.695,N	-2.75,D	17.4324	2.550	7.102	7.289809,34	5.43	AC=2;AN=4;BQB=0.976609;DP4=13,18,11,12;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.276001;SF=1,20;SGB=-0.680642;VDB=0.0275085	GT:DP:DV:PL	.	0/1:25:12:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:11:255,0,255	.	.	.	.	C	T	0	2	{Myocardial infarction, susceptibility to}, 608446 (3)	.	Coronary artery disease, association with(CM074332)	CGA-CAA|Arg952Gln|c.2855G>A|p.R952Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17847002&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21316997&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22404453&dopt=Abstract)	17847002|21316997|22404453|21460838|17847002|16642433|14732905|10571241|10380922|9079678|8626535	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT	.	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	PID_REELINPATHWAY;PID_LIS1PATHWAY	.	REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	1	53732315	rs2297660	G	T	216.25	PASS	LRP8	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	exonic	NM_001018054,NM_004631,NM_017522,NM_033300	.	synonymous SNV	LRP8:NM_033300:exon7:c.C747A:p.G249G,LRP8:NM_017522:exon8:c.C870A:p.G290G,LRP8:NM_001018054:exon9:c.C1257A:p.G419G,LRP8:NM_004631:exon9:c.C1257A:p.G419G	ENST00000465675.1,ENST00000371454.2,ENST00000354412.3,ENST00000306052.6,ENST00000347547.2	.	1p32.3	.	.	.	.	.	rs2297660	.	.	0.624585	0.6319	0.335264	0.3425	0.3798	0.6444	0.624585	0.634615709135	.	.	.	6.62959e-21,P	.	.	.	7.7546	2.550	1.005	.	4.91	AC=37;AN=48;BQB=1;DP4=54,98,153,356;DP=863;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.862013;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.0496732	GT:DP:DV:PL	0/1:26:15:255,0,255	1/1:30:30:255,90,0	1/1:33:33:255,99,0	0/1:27:12:255,0,255	.	1/1:31:31:255,93,0	0/1:36:13:255,0,255	1/1:28:28:255,84,0	0/1:20:8:202,0,255	0/1:16:9:229,0,182	0/1:29:15:255,0,255	0/1:25:10:245,0,255	1/1:21:21:255,63,0	0/1:31:16:255,0,255	0/1:33:13:255,0,255	1/1:23:23:255,69,0	0/1:24:14:255,0,238	0/1:18:8:128,0,255	1/1:27:27:255,81,0	1/1:37:37:255,111,0	1/1:29:29:255,87,0	1/1:35:35:255,105,0	1/1:12:12:255,36,0	1/1:33:33:255,99,0	1/1:37:37:255,111,0	G	T	13	11	{Myocardial infarction, susceptibility to}, 608446 (3)	.	Foetal growth restriction, lower risk, association(CM061103)	GGC-GGA|Gly419Gly|c.1257C>A|p.G419G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16642433&dopt=Abstract)	16642433|21460838|17847002|16642433|14732905|10571241|10380922|9079678|8626535	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT	.	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	PID_REELINPATHWAY;PID_LIS1PATHWAY	.	REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	1	53792651	rs3820198	A	C	223.8	PASS	LRP8	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	exonic	NM_001018054,NM_004631,NM_017522,NM_033300	.	missense SNV	LRP8:NM_001018054:exon2:c.T138G:p.D46E,LRP8:NM_004631:exon2:c.T138G:p.D46E,LRP8:NM_017522:exon2:c.T138G:p.D46E,LRP8:NM_033300:exon2:c.T138G:p.D46E	ENST00000465675.1,ENST00000371454.2,ENST00000354412.3,ENST00000306052.6,ENST00000347547.2	CpG: 159	1p32.3	.	.	.	.	.	rs3820198	.	.	0.473422	0.4841	0.550319	0.5173	0.4121	0.4424	0.44487011026	0.465144211538	0.507,T	0.001,B	0.001,B	1.4854e-18,P	.	-0.105,N	-3.61,D	1.5348	-0.278	-0.884	.	.	AC=26;AN=40;BQB=0.319748;DP4=188,255,398,495;DP=1856;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996459;SF=1,3,4,6,7,8,10,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=0.00662593	GT:DP:DV:PL	.	0/1:69:37:255,0,255	.	0/1:50:20:255,0,255	0/1:63:32:255,0,255	.	1/1:72:72:255,217,0	1/1:80:80:255,241,0	0/1:73:38:255,0,255	.	0/1:67:34:255,0,255	.	0/1:58:31:255,0,255	0/1:92:41:255,0,255	0/1:77:35:255,0,255	1/1:45:45:255,135,0	0/1:55:31:255,0,255	0/1:40:25:255,0,185	0/1:41:22:255,0,255	0/1:59:28:255,0,255	1/1:57:57:255,172,0	0/1:116:55:255,0,255	0/1:29:17:255,0,255	1/1:105:105:255,255,0	1/1:88:88:255,255,0	A	C	6	14	{Myocardial infarction, susceptibility to}, 608446 (3)	.	Plasma cholesterol levels, association with(CM119908)	GAT-GAG|Asp46Glu|c.138T>G|p.D46E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21316997&dopt=Abstract)	21316997|21460838|17847002|16642433|14732905|10571241|10380922|9079678|8626535	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT	.	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	PID_REELINPATHWAY;PID_LIS1PATHWAY	.	REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	1	55464986	rs34561376	G	A	222	PASS	BSND	barttin CLCNK-type chloride channel accessory beta subunit	exonic	NM_057176	.	missense SNV	BSND:NM_057176:exon1:c.G127A:p.V43I	ENST00000371265.4	.	1p32.3	.	.	.	.	.	rs34561376	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000039815.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.210963	0.1974	0.0816693	0.0426	0.0279	0.1922	0.208269364472	0.193509262019	0.749,T	0.001,B	0.002,B	0.999999,P	0.538781,N	0.295,N	-0.16,T	7.9791	-0.513	-0.295	.	.	AC=11;AN=22;BQB=0.840657;DP4=103,150,109,163;DP=679;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.538329;SF=1,2,5,6,10,11,16,17,18,20,24;SGB=-0.688148;VDB=0.000708984	GT:DP:DV:PL	.	0/1:29:15:255,0,255	0/1:53:29:255,0,255	.	.	0/1:81:44:255,0,255	0/1:48:25:255,0,255	.	.	.	0/1:49:24:255,0,255	0/1:27:12:255,0,255	.	.	.	.	0/1:43:21:255,0,255	0/1:34:15:255,0,255	0/1:39:22:255,0,255	.	0/1:56:35:255,0,255	.	.	.	0/1:66:30:255,0,255	G	A	0	11	Bartter syndrome, type 4a, 602522 (3); Sensorineural deafness with mild renal dysfunction, 602522 (3)	.	Reduced function(CM077510)	GTC-ATC|Val43Ile|c.127G>A|p.V43I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17954364&dopt=Abstract)	17954364|19646679|16849430|12574213|11734858|11687798|9463315	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;BASOLATERAL_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	55524237	rs562556	G	A	213.3	PASS	PCSK9	proprotein convertase subtilisin/kexin type 9	exonic	NM_174936	.	missense SNV	PCSK9:NM_174936:exon9:c.G1420A:p.V474I	ENST00000302118.5,ENST00000490692.1,ENST00000543384.1	.	1p32.3	.	.	.	.	.	rs562556	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000182572.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.998339	0.9881	0.86901	0.8178	0.8544	0.9914	0.802450191424	0.956730838942	0.412,T	0.002,B	0.013,B	1,P	0.007472,N	1.555,L	-0.52,T	3.8461	-2.214	-0.834	.	.	AC=46;AN=46;DP4=0,0,95,148;DP=319;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.590765;VDB=0.0782353	GT:DP:DV:PL	1/1:5:5:163,15,0	1/1:7:7:236,21,0	1/1:7:7:246,21,0	1/1:9:9:255,27,0	1/1:12:12:255,36,0	1/1:20:20:255,60,0	1/1:9:9:255,27,0	1/1:8:8:234,24,0	1/1:5:5:174,15,0	1/1:6:6:195,18,0	1/1:10:10:255,30,0	1/1:8:8:225,24,0	.	1/1:14:14:255,42,0	1/1:18:18:255,54,0	1/1:21:21:255,63,0	1/1:13:13:255,39,0	1/1:11:11:255,33,0	1/1:10:10:255,30,0	1/1:10:10:255,30,0	1/1:9:9:255,27,0	1/1:7:7:231,21,0	.	1/1:13:13:255,39,0	1/1:11:11:255,33,0	G	A	23	0	Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)	.	High LDL cholesterol, association with(CM045990)	GTC-ATC|Val474Ile|c.1420G>A|p.V474I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14727156&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23386946&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23663650&dopt=Abstract)	14727156|23386946|23663650|20686565|18499582|18406350|18354102|18250299|17645871|16912035|16909389|16794006|16554528|16465619|15805190|15772090|15677715|15654334|15385538|15166014|15118091|14727179|14727156|12730697|12552133|10764678|10205269	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_AUTOPROCESSING;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;PROGRAMMED_CELL_DEATH;RESPONSE_TO_EXTRACELLULAR_STIMULUS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;CELLULAR_RESPONSE_TO_STRESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_NUTRIENT_LEVELS;ORGAN_MORPHOGENESIS;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;CELLULAR_RESPONSE_TO_STIMULUS;CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;NEUROGENESIS;CHEMICAL_HOMEOSTASIS;NEURON_DIFFERENTIATION;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_NEURON_APOPTOSIS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEURON_APOPTOSIS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;APOPTOSIS_GO;CELLULAR_RESPONSE_TO_NUTRIENT_LEVELS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;RECEPTOR_BINDING;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	55529187	rs505151	G	A	225.64	PASS	PCSK9	proprotein convertase subtilisin/kexin type 9	exonic	NM_174936	.	missense SNV	PCSK9:NM_174936:exon12:c.G2009A:p.G670E	ENST00000302118.5,ENST00000490692.1	.	1p32.3	.	.	.	.	.	rs505151	CLINSIG=Benign;CLNDBN=Familial_hypercholesterolemia;CLNACC=RCV000030349.1;CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:397915002:398036000	.	0.953488	0.9603	0.898962	0.8894	0.9433	0.9460	0.945635111792	0.945913204327	1.0,T	0.0,B	0.0,B	1,P	0.338539,N	-2.34,N	-0.35,T	4.5696	-0.244	0.507	.	.	AC=47;AN=50;BQB=0.993051;DP4=35,44,309,458;DP=1098;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.702846;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.00392028	GT:DP:DV:PL	1/1:32:32:255,96,0	1/1:33:33:255,99,0	1/1:36:36:255,108,0	1/1:35:35:255,105,0	1/1:26:26:255,78,0	0/1:65:32:255,0,255	1/1:23:23:255,69,0	1/1:35:35:255,105,0	1/1:28:28:255,84,0	1/1:21:21:255,63,0	1/1:21:21:255,63,0	1/1:31:31:255,93,0	1/1:19:19:255,57,0	0/1:54:17:255,0,255	1/1:44:44:255,132,0	1/1:29:29:255,87,0	1/1:35:35:255,105,0	0/1:17:8:214,0,246	1/1:35:35:255,105,0	1/1:30:30:255,90,0	1/1:26:26:255,78,0	1/1:53:53:255,160,0	1/1:14:14:255,42,0	1/1:49:49:255,148,0	1/1:55:55:255,166,0	G	A	22	3	Hypercholesterolemia, familial, 3, 603776 (3); {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)	.	Atherosclerosis, severity, association with(CM051950)	GAG-GGG|Glu670Gly|c.2009A>G|p.E670G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15893176&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23329883&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21232153&dopt=Abstract)	15893176|23329883|21232153|20686565|18499582|18406350|18354102|18250299|17645871|16912035|16909389|16794006|16554528|16465619|15805190|15772090|15677715|15654334|15385538|15166014|15118091|14727179|14727156|12730697|12552133|10764678|10205269	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_AUTOPROCESSING;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;PROGRAMMED_CELL_DEATH;RESPONSE_TO_EXTRACELLULAR_STIMULUS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;CELLULAR_RESPONSE_TO_STRESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_NUTRIENT_LEVELS;ORGAN_MORPHOGENESIS;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;CELLULAR_RESPONSE_TO_STIMULUS;CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;NEUROGENESIS;CHEMICAL_HOMEOSTASIS;NEURON_DIFFERENTIATION;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_NEURON_APOPTOSIS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEURON_APOPTOSIS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;APOPTOSIS_GO;CELLULAR_RESPONSE_TO_NUTRIENT_LEVELS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;RECEPTOR_BINDING;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	63881552	rs4630153	C	T	222.8	PASS	ALG6	ALG6, alpha-1,3-glucosyltransferase	exonic	NM_013339	.	missense SNV	ALG6:NM_013339:exon11:c.C911T:p.S304F	ENST00000371108.4,ENST00000263440.4	.	1p31.3	.	.	.	.	.	rs4630153	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000081560.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.870432	0.8571	0.830471	0.7370	0.7514	0.8596	0.85681450536	0.867788658654	0.213,T	0.001,B	0.0,B	1,P	0.100370,N	.	-1.61,D	6.8595	0.340	0.967	1.628931,14.01	3.91	AC=48;AN=50;BQB=0.361741;DP4=11,2,304,47;DP=522;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.964642;MQSB=1;RPB=0.12058;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.264029	GT:DP:DV:PL	1/1:24:24:255,72,0	0/1:11:7:218,0,86	1/1:8:8:255,24,0	1/1:16:16:255,48,0	1/1:21:21:255,63,0	0/1:21:12:255,0,255	1/1:18:18:255,54,0	1/1:12:12:240,36,0	1/1:14:14:255,42,0	1/1:15:15:255,45,0	1/1:10:10:255,30,0	1/1:16:16:255,48,0	1/1:8:8:254,24,0	1/1:8:8:221,24,0	1/1:6:6:244,18,0	1/1:25:25:255,75,0	1/1:13:13:255,39,0	1/1:18:18:255,54,0	1/1:20:20:255,60,0	1/1:15:15:255,45,0	1/1:13:13:255,39,0	1/1:20:20:255,60,0	1/1:9:9:237,27,0	1/1:8:8:254,24,0	1/1:15:15:255,45,0	C	T	23	2	Congenital disorder of glycosylation, type Ic, 603147 (3)	.	Congenital disorder of glycosylation 1c, mild(CM001812)	TTT-TCT|Phe304Ser|c.911T>C|p.F304S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10914684&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21899441&dopt=Abstract)	10914684|20981092|21899441|21334936|16007612|11875054|11558905|10924277|10914684|10832578|10359825|9710431	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	PS1,PS3,BA1
L	1	64097432	rs1126728	C	T	220.06	PASS	PGM1	phosphoglucomutase 1	exonic	NM_001172818,NM_001172819,NM_002633	.	missense SNV	PGM1:NM_001172818:exon4:c.C715T:p.R239C,PGM1:NM_001172819:exon4:c.C70T:p.R24C,PGM1:NM_002633:exon4:c.C661T:p.R221C	ENST00000371083.4,ENST00000540265.1,ENST00000371084.3	.	1p31.3	.	.	.	.	.	rs1126728	.	.	0.287375	0.2688	0.241414	0.2231	0.2428	0.2527	0.300153192956	0.280047896635	0.21,T	0.143,B	0.679,P	1.38657e-08,P	0.000000,D	1.395,L	-0.0,T	20.3271	2.885	2.558	6.939324,33	5.75	AC=22;AN=32;BQB=0.901838;DP4=86,42,175,75;DP=517;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.967531;SF=1,2,6,7,8,9,10,12,15,16,17,18,19,20,21,23;SGB=-0.688148;VDB=0.600856	GT:DP:DV:PL	.	0/1:31:15:255,0,255	0/1:18:7:227,0,255	.	.	.	0/1:23:12:255,0,255	1/1:28:28:255,84,0	1/1:20:20:255,60,0	1/1:26:26:255,78,0	0/1:31:14:255,0,255	.	0/1:18:13:255,0,126	.	.	0/1:25:9:244,0,255	0/1:27:11:255,0,255	0/1:22:10:255,0,255	0/1:25:10:228,0,255	1/1:17:17:255,51,0	1/1:23:23:255,69,0	0/1:19:10:255,0,231	.	1/1:25:25:255,75,0	.	C	T	6	10	Congenital disorder of glycosylation, type It, 614921 (3)	.	Phosphoglucomutase deficiency(CD143008)	ACTGAAG^220ATCcGTATTGATGC|c.661delC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24499211&dopt=Abstract)	24499211|25288802|24499211|22492991|19625727|15509594|14235665|10819019|10441333|8257433|7902568|7902567|6462057|6459984|6457529|6444615|6239817|6236143|6223876|6217145|6216484|6072882|5970336|5476665|5082918|4812948|4736621|4627353|4517931|4201296|4116322|3159642|2934981|2895061|1968047|1530890|700705|561097|413469|222544	.	.	ISOMERASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_GALACTOSE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	PID_HIF1_TFPATHWAY	BIOCARTA_FEEDER_PATHWAY	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	PS1,PS3,BA1
L	1	66036441	rs1137100	A	G	220.36	PASS	LEPR	leptin receptor	exonic	NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303	.	missense SNV	LEPR:NM_001198687:exon3:c.A326G:p.K109R,LEPR:NM_001198688:exon3:c.A326G:p.K109R,LEPR:NM_001198689:exon3:c.A326G:p.K109R,LEPR:NM_001003679:exon4:c.A326G:p.K109R,LEPR:NM_001003680:exon4:c.A326G:p.K109R,LEPR:NM_002303:exon4:c.A326G:p.K109R	ENST00000349533.6,ENST00000371059.3,ENST00000406510.3,ENST00000371058.1,ENST00000462765.1,ENST00000371060.3,ENST00000344610.8	.	1p31.3	.	.	.	.	.	rs1137100	CLINSIG=Benign;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNACC=RCV000009049.2;CLNDSDB=.;CLNDSDBID=.	.	0.82392	0.8046	0.320288	0.2334	0.2942	0.8221	0.822358370597	0.808893978365	0.321,T	0.851,P	0.99,D	9.8801e-11,P	0.000583,D	2.255,M	0.23,T	8.8143	2.167	2.343	1.635649,14.05	4.55	AC=46;AN=50;BQB=0.965977;DP4=11,31,167,306;DP=665;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.574735;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.689466;VDB=0.187308	GT:DP:DV:PL	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:10:10:255,30,0	0/1:19:13:255,0,174	0/1:31:15:255,0,255	1/1:14:14:255,42,0	1/1:21:21:255,63,0	1/1:20:20:255,60,0	1/1:30:30:255,90,0	1/1:24:24:255,72,0	1/1:21:21:255,63,0	1/1:23:23:255,69,0	0/1:13:3:90,0,151	1/1:15:15:255,45,0	1/1:21:21:255,63,0	1/1:22:22:255,66,0	1/1:26:26:255,78,0	1/1:17:17:255,51,0	1/1:26:26:255,78,0	1/1:25:25:255,75,0	1/1:21:21:255,63,0	1/1:26:26:255,78,0	1/1:14:14:255,42,0	1/1:19:19:255,57,0	0/1:24:14:255,0,246	A	G	21	4	Obesity, morbid, due to leptin receptor deficiency, 614963 (3)	.	Increased birth weight, association with(CM032948)	AAG-AGG|Lys109Arg|c.326A>G|p.K109R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18490929&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19608021&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21204206&dopt=Abstract)	18490929|19608021|21204206|24107994|22281595|22116886|20167575|19150989|17909627|17785359|17415414|17229951|16537512|16333525|16284652|15711637|15685168|15520383|15448687|15207242|12594516|12413939|11602618|11549688|11443193|11354636|10999797|10660043|9733517|9537324|9177239|9175732|9011568|8973914|8841178|8812446|8782827|8769097|8743992|8692797|8692794|8666155|8628397|8608603|8584938|8548812|4767369|350680	ENERGY_RESERVE_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_PTP1BPATHWAY	BIOCARTA_LEPTIN_PATHWAY	.	PS1,PS3,BA1
L	1	66058513	rs1137101	A	G	225.72	PASS	LEPR	leptin receptor	exonic	NM_001003679,NM_001003680,NM_001198687,NM_001198688,NM_001198689,NM_002303	.	missense SNV	LEPR:NM_001198687:exon5:c.A668G:p.Q223R,LEPR:NM_001198688:exon5:c.A668G:p.Q223R,LEPR:NM_001198689:exon5:c.A668G:p.Q223R,LEPR:NM_001003679:exon6:c.A668G:p.Q223R,LEPR:NM_001003680:exon6:c.A668G:p.Q223R,LEPR:NM_002303:exon6:c.A668G:p.Q223R	ENST00000349533.6,ENST00000371059.3,ENST00000406510.3,ENST00000371058.1,ENST00000462765.1,ENST00000371060.3,ENST00000344610.8	.	1p31.3	.	.	.	.	.	rs1137101	CLINSIG=Benign;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNACC=RCV000009047.2;CLNDSDB=.;CLNDSDBID=.	.	0.877076	0.869	0.584265	0.4903	0.5103	0.8783	0.878253825421	0.861778512019	0.187,T	0.234,B	0.828,P	3.66654e-10,P	0.111741,N	1.935,L	0.56,T	9.2279	0.513	2.851	1.482954,13.22	3.66	AC=47;AN=50;BQB=0.894396;DP4=29,34,287,360;DP=948;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0614102;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.110165	GT:DP:DV:PL	1/1:30:30:255,90,0	1/1:31:31:255,93,0	1/1:23:23:255,69,0	0/1:23:9:216,0,255	0/1:56:29:255,0,255	1/1:33:33:255,99,0	1/1:28:28:255,84,0	1/1:31:31:255,93,0	1/1:32:32:255,96,0	1/1:29:29:255,87,0	1/1:27:27:255,81,0	1/1:27:27:255,81,0	1/1:20:20:255,60,0	1/1:19:19:255,57,0	1/1:12:12:255,36,0	1/1:29:29:255,87,0	1/1:37:37:255,111,0	1/1:23:23:255,69,0	1/1:30:30:255,90,0	1/1:24:24:255,72,0	1/1:33:33:255,99,0	1/1:34:34:255,102,0	1/1:10:10:255,30,0	1/1:30:30:255,90,0	0/1:39:17:255,0,255	A	G	22	3	Obesity, morbid, due to leptin receptor deficiency, 614963 (3)	.	Higher body mass index, association with(CM010905)	CAG-CGG|Gln223Arg|c.668A>G|p.Q223R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11354636&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19427969&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22734460&dopt=Abstract)	11354636|19427969|22734460|24107994|22281595|22116886|20167575|19150989|17909627|17785359|17415414|17229951|16537512|16333525|16284652|15711637|15685168|15520383|15448687|15207242|12594516|12413939|11602618|11549688|11443193|11354636|10999797|10660043|9733517|9537324|9177239|9175732|9011568|8973914|8841178|8812446|8782827|8769097|8743992|8692797|8692794|8666155|8628397|8608603|8584938|8548812|4767369|350680	ENERGY_RESERVE_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_PTP1BPATHWAY	BIOCARTA_LEPTIN_PATHWAY	.	PS1,PS3,BA1
L	1	67633812	rs1884444	G	T	183.32	PASS	IL23R	interleukin 23 receptor	exonic	NM_144701	.	missense SNV	IL23R:NM_144701:exon2:c.G9T:p.Q3H	ENST00000371002.1,ENST00000347310.5,ENST00000371007.2	.	1p31.3	.	.	Score=937;Name=V$AP1_C	.	.	rs1884444	.	.	0.646179	0.6369	0.530152	0.5185	0.5285	0.6498	0.652373229709	0.643028663462	0.381,T	0.005,B	0.002,B	1,P	0.328617,N	1.955,M	-1.97,D	5.912	1.232	0.723	2.109445,16.92	2.03	AC=33;AN=42;BQB=0.497296;DP4=49,14,185,50;DP=423;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;MQSB=1;RPB=0.885987;SF=2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.285527	GT:DP:DV:PL	.	.	1/1:14:14:255,42,0	0/1:14:7:243,0,177	.	1/1:14:14:255,42,0	0/1:14:5:140,0,217	1/1:10:10:255,30,0	1/1:15:15:255,45,0	0/1:11:6:135,0,145	1/1:17:17:255,51,0	1/1:20:20:255,60,0	0/1:11:3:73,0,239	.	0/1:14:5:155,0,255	1/1:16:16:255,48,0	1/1:21:21:255,63,0	1/1:5:5:155,15,0	1/1:11:11:255,33,0	0/1:12:7:204,0,141	0/1:19:13:255,0,190	1/1:14:14:255,42,0	0/1:6:2:56,0,164	1/1:17:17:255,51,0	0/1:23:13:255,0,255	G	T	12	9	{Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3)	.	Gastric cancer, decreased risk, association with(CM106957)	CAT-CAG|His3Gln|c.9T>G|p.H3Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20607725&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21672939&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	20607725|21672939|25525159|23467085|22262659|22019778|21983784|21151126|21076058|20956338|20393462|20228799|19122664|18438406|17952073|17804789|17786191|17587057|17554300|17447842|17435756|17068223|15610511|12413772|12023369	.	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL23PATHWAY	.	.	PS1,PS3,BA1
L	1	67685387	rs7530511	T	C	228	PASS	IL23R	interleukin 23 receptor	exonic	NM_144701	.	missense SNV	IL23R:NM_144701:exon7:c.T929C:p.L310P	ENST00000395227.1,ENST00000371002.1,ENST00000473881.1,ENST00000347310.5,ENST00000371007.2	.	1p31.3	.	.	.	.	.	rs7530511	.	.	0.988372	0.9871	0.875998	0.8340	0.8776	0.9831	0.978560202144	0.987980834135	.	.	.	0.999979,P	.	.	.	10.0697	1.392	2.350	.	4.88	AC=50;AN=50;DP4=0,0,222,165;DP=535;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=0.00199183	GT:DP:DV:PL	1/1:21:21:255,63,0	1/1:15:15:255,45,0	1/1:13:13:255,39,0	1/1:18:18:255,54,0	1/1:15:15:255,45,0	1/1:12:12:255,36,0	1/1:20:20:255,60,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:9:9:255,27,0	1/1:12:12:255,36,0	1/1:17:17:255,51,0	1/1:10:10:255,30,0	1/1:15:15:255,45,0	1/1:14:14:255,42,0	1/1:11:11:255,33,0	1/1:23:23:255,69,0	1/1:12:12:255,36,0	1/1:20:20:255,60,0	1/1:17:17:255,51,0	1/1:19:19:255,57,0	1/1:22:22:255,66,0	1/1:8:8:255,24,0	1/1:10:10:255,30,0	1/1:15:15:255,45,0	T	C	25	0	{Inflammatory bowel disease 17, protection against}, 612261 (3); {Psoriasis, protection against}, 605606 (3)	.	Psoriasis, increased risk, association with(CM073141)	CTG-CCG|Leu310Pro|c.929T>C|p.L310P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17236132&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18073300&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19294505&dopt=Abstract)	17236132|18073300|19294505|23467085|22262659|22019778|21983784|21151126|21076058|20956338|20393462|20228799|19122664|18438406|17952073|17804789|17786191|17587057|17554300|17447842|17435756|17068223|15610511|12413772|12023369	.	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL23PATHWAY	.	.	PS1,PS3,BA1
L	1	85742012	rs11576939	G	C	222	PASS	BCL10	B-cell CLL/lymphoma 10	exonic	NM_003921	.	synonymous SNV	BCL10:NM_003921:exon1:c.C24G:p.L8L	ENST00000370580.1	CpG: 78	1p22.3	.	.	.	.	.	rs11576939	.	.	0.076412	0.0744	0.228235	0.2868	0.2755	0.0773	0.0826952808576	0.0673077319712	.	.	.	.	.	.	.	.	0.766	0.096	0.985927,10.58	2.17	AC=3;AN=6;BQB=0.99839;DP4=46,48,48,25;DP=221;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.947245;SF=8,9,20;SGB=-0.692562;VDB=0.104794	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:45:22:255,0,255	0/1:53:20:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:69:31:255,0,255	.	.	.	.	G	C	0	3	Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic}, 273300, (3); {Sezary syndrome, somatic}, (3); {Mesothelioma, somatic}, 156240 (3); ?Immunodeficiency 37, 616098 (3)	.	Advanced germ cell tumors, association with(CM062460)	CTC-CTG|Leu8Leu|c.24C>G|p.L8L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16229939&dopt=Abstract)	16229939|25365219|16818229|16229939|12910267|11376806|11163238|10582682|10408400|10380920|10187771|9989495|7629280|1728948	REGULATION_OF_BIOLOGICAL_QUALITY;RNA_METABOLIC_PROCESS;PROTEIN_OLIGOMERIZATION;POSITIVE_REGULATION_OF_TRANSLATION;POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MULTI_ORGANISM_PROCESS;REGULATION_OF_DNA_BINDING;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;TUBE_MORPHOGENESIS;MACROMOLECULAR_COMPLEX_ASSEMBLY;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_BINDING;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;INTERLEUKIN_8_BIOSYNTHETIC_PROCESS;DEFENSE_RESPONSE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;TUBE_DEVELOPMENT;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;CYTOKINE_PRODUCTION;REGULATION_OF_PHOSPHORYLATION;CELLULAR_BIOSYNTHETIC_PROCESS;ACTIVATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;INTERLEUKIN_8_PRODUCTION;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;MORPHOGENESIS_OF_AN_EPITHELIUM;RESPONSE_TO_BACTERIUM;CELLULAR_COMPONENT_ASSEMBLY;IMMUNE_RESPONSE;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;HOMEOSTASIS_OF_NUMBER_OF_CELLS;RESPONSE_TO_BIOTIC_STIMULUS;PROTEIN_KINASE_CASCADE;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;RESPONSE_TO_OTHER_ORGANISM;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;CELL_CELL_ADHESION;EMBRYONIC_MORPHOGENESIS;ADAPTIVE_IMMUNE_RESPONSE;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;EMBRYONIC_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOKINE_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;PROTEIN_HOMOOLIGOMERIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;INNATE_IMMUNE_RESPONSE;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;POSITIVE_REGULATION_OF_DNA_BINDING;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;REGULATION_OF_BINDING;APOPTOSIS_GO;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;NUCLEUS;VACUOLE;CYTOSOL;IMMUNOLOGICAL_SYNAPSE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;LYSOSOME;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	KINASE_BINDING;ENZYME_ACTIVATOR_ACTIVITY;SMALL_CONJUGATING_PROTEIN_BINDING;UBIQUITIN_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;KINASE_ACTIVATOR_ACTIVITY;NF_KAPPAB_BINDING;TRANSCRIPTION_FACTOR_BINDING;PROTEIN_KINASE_BINDING;PROTEIN_C_TERMINUS_BINDING;ENZYME_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY	PID_BCR_5PATHWAY;PID_TCR_PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_CD8TCRPATHWAY	.	REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_TCR_SIGNALING;REACTOME_DOWNSTREAM_TCR_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	85742023	rs12037217	C	A	222.67	PASS	BCL10	B-cell CLL/lymphoma 10	exonic	NM_003921	.	missense SNV	BCL10:NM_003921:exon1:c.G13T:p.A5S	ENST00000370580.1	CpG: 78	1p22.3	.	.	.	.	.	rs12037217	.	.	0.137874	0.1171	0.0349441	0.0201	0.0291	0.1134	0.113323212864	0.131009661058	0.022,D	0.001,B	0.0,B	0.971359,N	0.229396,N	0.69,N	.	10.1369	0.690	1.734	3.053196,22.4	3.19	AC=10;AN=18;BQB=0.0159424;DP4=122,80,119,174;DP=685;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.88034;SF=5,6,9,10,12,13,18,20,24;SGB=-0.693147;VDB=0.0560301	GT:DP:DV:PL	.	.	.	.	.	1/1:64:64:255,193,0	0/1:63:28:255,0,255	.	.	0/1:49:29:255,0,255	0/1:50:33:255,0,255	.	0/1:46:23:255,0,255	0/1:64:32:255,0,255	.	.	.	.	0/1:48:26:255,0,255	.	0/1:61:31:255,0,255	.	.	.	0/1:50:27:255,0,255	C	A	1	8	Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic}, 605027 (3); {Male germ cell tumor, somatic}, 273300, (3); {Sezary syndrome, somatic}, (3); {Mesothelioma, somatic}, 156240 (3); ?Immunodeficiency 37, 616098 (3)	.	Advanced germ cell tumors, association with(CM062459)	GCA-TCA|Ala5Ser|c.13G>T|p.A5S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16229939&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19690445&dopt=Abstract)	16229939|19690445|25365219|16818229|16229939|12910267|11376806|11163238|10582682|10408400|10380920|10187771|9989495|7629280|1728948	REGULATION_OF_BIOLOGICAL_QUALITY;RNA_METABOLIC_PROCESS;PROTEIN_OLIGOMERIZATION;POSITIVE_REGULATION_OF_TRANSLATION;POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MULTI_ORGANISM_PROCESS;REGULATION_OF_DNA_BINDING;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;TUBE_MORPHOGENESIS;MACROMOLECULAR_COMPLEX_ASSEMBLY;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_BINDING;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;INTERLEUKIN_8_BIOSYNTHETIC_PROCESS;DEFENSE_RESPONSE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;TUBE_DEVELOPMENT;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;CYTOKINE_PRODUCTION;REGULATION_OF_PHOSPHORYLATION;CELLULAR_BIOSYNTHETIC_PROCESS;ACTIVATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;INTERLEUKIN_8_PRODUCTION;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;MORPHOGENESIS_OF_AN_EPITHELIUM;RESPONSE_TO_BACTERIUM;CELLULAR_COMPONENT_ASSEMBLY;IMMUNE_RESPONSE;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;HOMEOSTASIS_OF_NUMBER_OF_CELLS;RESPONSE_TO_BIOTIC_STIMULUS;PROTEIN_KINASE_CASCADE;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;RESPONSE_TO_OTHER_ORGANISM;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;CELL_CELL_ADHESION;EMBRYONIC_MORPHOGENESIS;ADAPTIVE_IMMUNE_RESPONSE;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;EMBRYONIC_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOKINE_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;PROTEIN_HOMOOLIGOMERIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;INNATE_IMMUNE_RESPONSE;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;POSITIVE_REGULATION_OF_DNA_BINDING;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;REGULATION_OF_BINDING;APOPTOSIS_GO;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;NUCLEUS;VACUOLE;CYTOSOL;IMMUNOLOGICAL_SYNAPSE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;LYSOSOME;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	KINASE_BINDING;ENZYME_ACTIVATOR_ACTIVITY;SMALL_CONJUGATING_PROTEIN_BINDING;UBIQUITIN_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;KINASE_ACTIVATOR_ACTIVITY;NF_KAPPAB_BINDING;TRANSCRIPTION_FACTOR_BINDING;PROTEIN_KINASE_BINDING;PROTEIN_C_TERMINUS_BINDING;ENZYME_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY	PID_BCR_5PATHWAY;PID_TCR_PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_CD8TCRPATHWAY	.	REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_TCR_SIGNALING;REACTOME_DOWNSTREAM_TCR_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	94544234	rs3112831	T	C	196.6	PASS	ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4	exonic	NM_000350	.	missense SNV	ABCA4:NM_000350:exon10:c.A1268G:p.H423R	ENST00000370225.3,ENST00000535735.1	.	1p22.1	.	.	.	.	.	rs3112831	CLINSIG=other|Benign\x2cnot provided;CLNDBN=not_provided|not_specified\x2cnot_provided;CLNACC=RCV000085383.4|RCV000173675.1,RCV000085382.1;CLNDSDB=MedGen|MedGen\x2cMedGen;CLNDSDBID=CN221809|CN169374\x2cCN221809	.	0.240864	0.254	0.220847	0.2606	0.2553	0.2477	0.249617102603	0.236779012019	0.081,T	0.0,B	0.0,B	0.99936,P	0.000000,N	-2.54,N	-1.74,D	14.5395	1.341	2.204	.	5.49	AC=16;AN=30;BQB=0.595324;DP4=109,56,118,62;DP=473;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.864136;SF=0,2,4,5,6,11,12,13,14,17,19,20,21,22,24;SGB=-0.686358;VDB=0.655855	GT:DP:DV:PL	0/1:30:14:255,0,255	.	0/1:23:12:255,0,255	.	1/1:25:25:255,75,0	0/1:36:15:255,0,255	0/1:18:5:155,0,255	.	.	.	.	0/1:23:13:255,0,235	0/1:17:7:198,0,224	0/1:27:20:255,0,159	0/1:22:10:245,0,255	.	.	0/1:28:14:255,0,255	.	0/1:17:9:251,0,255	0/1:28:15:255,0,255	0/1:18:6:125,0,255	0/1:10:5:172,0,135	.	0/1:23:10:255,0,255	T	C	1	14	Stargardt disease 1, 248200 (3); Retinitis pigmentosa 19, 601718 (3); Cone-rod dystrophy 3, 604116 (3); {Macular degeneration, age-related, 2}, 153800 (3); Fundus flavimaculatus, 248200 (3); Retinal dystrophy, early-onset severe, 248200 (3)	.	Stargardt disease(CM015072) || Stargardt disease(CM032802)	CAC-CGC|His423Arg|c.1268A>G|p.H423R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11328725&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21330655&dopt=Abstract) || CAC-CCC|His423Pro|c.1268A>C|p.H423P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14517951&dopt=Abstract)	11328725|20981092|21330655|14517951|19074458|18285826|17325136|16896346|16682602|16546111|16400609|16103129|15516930|15471866|15192030|15019334|12796258|12671074|12515255|11973624|11919200|11818392|11726554|11702214|11385708|11379881|11346402|11172037|11017087|10970771|10958763|10958761|10888868|10880298|10874631|10746567|10466724|10442900|10412977|10396622|10090887|10075733|9973280|9781034|9666097|9503029|9490294|9466990|9425888|9295268|9288089|9202155|9070931|9054934|8894702|8035984	ESTABLISHMENT_OF_LOCALIZATION;DETECTION_OF_ABIOTIC_STIMULUS;DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;PHOTOTRANSDUCTION;RESPONSE_TO_LIGHT_STIMULUS;DETECTION_OF_STIMULUS;SENSORY_PERCEPTION;RESPONSE_TO_ABIOTIC_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_RADIATION;SYSTEM_PROCESS;DETECTION_OF_EXTERNAL_STIMULUS	CELL_FRACTION;MEMBRANE_FRACTION	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	1	98348885	rs1801265	G	A	222	PASS	DPYD	dihydropyrimidine dehydrogenase	exonic	NM_000110,NM_001160301	.	missense SNV	DPYD:NM_000110:exon2:c.C85T:p.R29C,DPYD:NM_001160301:exon2:c.C85T:p.R29C	ENST00000423006.2,ENST00000370192.3,ENST00000306031.5	.	1p21.3	.	.	.	.	.	rs1801265	CLINSIG=Pathogenic\x2cnot provided;CLNDBN=Dihydropyrimidine_dehydrogenase_deficiency\x2cnot_provided;CLNACC=RCV000000464.2,RCV000086506.1;CLNDSDB=MedGen:OMIM\x2cMedGen;CLNDSDBID=C2720286:274270\x2cCN221809	.	0.906977	0.9137	0.739816	0.7159	0.7652	0.9258	0.911179437979	0.902644319712	0.177,T	0.663,P	0.964,D	5.1917e-13,P	0.005662,N	.	-1.59,D	12.5921	2.763	2.236	4.037459,23.7	5.84	AC=45;AN=50;BQB=0.373354;DP4=33,14,251,117;DP=600;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.781682;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692067;VDB=0.0894629	GT:DP:DV:PL	1/1:20:20:255,60,0	0/1:19:11:255,0,223	0/1:19:8:239,0,255	1/1:20:20:255,60,0	0/1:20:8:248,0,255	0/1:11:6:209,0,181	1/1:25:25:255,75,0	1/1:16:16:255,48,0	1/1:19:19:255,57,0	1/1:19:19:255,57,0	1/1:23:23:255,69,0	1/1:13:13:255,39,0	1/1:10:10:255,30,0	1/1:10:10:255,30,0	1/1:14:14:255,42,0	1/1:16:16:255,48,0	1/1:25:25:255,75,0	1/1:10:10:255,30,0	1/1:18:18:255,54,0	1/1:16:16:255,48,0	1/1:15:15:255,45,0	1/1:14:14:255,42,0	1/1:7:7:205,21,0	1/1:14:14:255,42,0	0/1:22:11:255,0,255	G	A	20	5	Dihydropyrimidine dehydrogenase deficiency, 274270 (3); 5-fluorouracil toxicity, 274270 (3)	.	Dihydropyrimidine dehydrogenase deficiency(CM970421)	TGT-CGT|Cys29Arg|c.85T>C|p.C29R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9266349&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14635116&dopt=Abstract)	9266349|20981092|14635116|19622726|19296131|10071185|10027339|9918128|9721209|9686374|9470816|9439663|9266349|9254861|9010022|8892022|8698850|8083224|8051923|7832988|7713523|1648430	.	.	.	KEGG_PYRIMIDINE_METABOLISM;KEGG_BETA_ALANINE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_PYRIMIDINE_CATABOLISM;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	PS1,PS3,BA1
L	1	100672060	rs12021720	T	C	220.16	PASS	DBT	dihydrolipoamide branched chain transacylase E2	exonic	NM_001918	.	missense SNV	DBT:NM_001918:exon9:c.A1150G:p.S384G	ENST00000370132.4	.	1p21.2	.	.	.	.	.	rs12021720	CLINSIG=Pathogenic\x2cother;CLNDBN=Intermediate_maple_syrup_urine_disease_type_2\x2cnot_specified;CLNACC=RCV000012727.23,RCV000116865.5;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN069615\x2cCN169374	.	0.938538	0.9494	0.891773	0.8592	0.9138	0.9703	0.9586521317	0.947115175481	1.0,T	0.0,B	0.0,B	1,P	0.000010,N	.	1.19,T	9.6265	1.495	1.905	.	4.4	AC=47;AN=50;BQB=0.491386;DP4=27,14,377,213;DP=860;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.19429;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.294166	GT:DP:DV:PL	1/1:31:31:255,93,0	1/1:30:30:255,90,0	0/1:18:9:249,0,207	1/1:19:19:255,57,0	1/1:25:25:255,75,0	0/1:40:20:255,0,255	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:37:37:255,111,0	1/1:19:19:255,57,0	1/1:30:30:255,90,0	1/1:29:29:255,87,0	1/1:23:23:255,69,0	1/1:27:27:255,81,0	1/1:23:23:255,69,0	1/1:18:18:255,54,0	1/1:24:24:255,72,0	1/1:12:12:255,36,0	1/1:30:30:255,90,0	1/1:31:31:255,93,0	0/1:16:4:85,0,255	1/1:26:26:255,78,0	1/1:9:9:255,27,0	1/1:33:33:255,99,0	1/1:28:28:255,84,0	T	C	22	3	Maple syrup urine disease, type II, 248600 (3)	.	Maple syrup urine disease(CM983430)	GGT-AGT|Gly384Ser|c.1150G>A|p.G384S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9621512&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26232051&dopt=Abstract)	9621512|20981092|26232051|18063578|16203741|14742428|14508502|10915611|9621512|9239422|8430702|7672509|3417306|3245861|3189339|2932110|2837277|2742576|2708389|2010537|2004553|1990841|1943690|1889817|1847055|1429740	.	ORGANELLE_PART;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;MITOCHONDRIAL_MATRIX;MITOCHONDRIAL_LUMEN;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;MITOCHONDRION;PROTEIN_COMPLEX	.	KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_BRANCHED_CHAIN_AMINO_ACID_CATABOLISM	PS1,PS3,BA1
L	1	103354138	rs1676486	A	G	182.11	PASS	COL11A1	collagen, type XI, alpha 1	exonic	NM_001190709,NM_001854,NM_080629,NM_080630	.	missense SNV	COL11A1:NM_080630:exon60:c.T4255C:p.S1419P,COL11A1:NM_001190709:exon61:c.T4486C:p.S1496P,COL11A1:NM_001854:exon62:c.T4603C:p.S1535P,COL11A1:NM_080629:exon62:c.T4639C:p.S1547P	ENST00000370096.3,ENST00000353414.4,ENST00000358392.2,ENST00000512756.1	.	1p21.1	.	.	.	.	.	rs1676486	CLINSIG=other;CLNDBN=Lumbar_disc_herniation\x2c_susceptibility_to;CLNACC=RCV000018675.5;CLNDSDB=MedGen;CLNDSDBID=C2676840	.	0.760797	0.748	0.782947	0.8070	0.7942	0.7304	0.751148534456	0.765624788462	1.0,T	0.0,B	0.0,B	0.714483,P	0.000005,N	-1.41,N	-3.42,D	14.8898	1.420	6.350	2.941822,22.0	5.67	AC=31;AN=44;BQB=0.990132;DP4=65,34,159,61;DP=429;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.593759;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.676189;VDB=0.504358	GT:DP:DV:PL	0/1:21:11:255,0,243	0/1:21:14:255,0,176	0/1:21:11:255,0,255	.	0/1:18:9:225,0,225	0/1:7:2:71,0,155	1/1:10:10:234,30,0	.	1/1:18:18:255,54,0	1/1:20:20:255,60,0	0/1:9:4:152,0,169	0/1:9:3:79,0,203	1/1:11:11:255,33,0	1/1:16:16:255,48,0	0/1:15:8:229,0,184	1/1:11:11:255,33,0	0/1:23:14:255,0,255	0/1:9:3:68,0,203	.	1/1:11:11:255,33,0	1/1:10:10:255,30,0	0/1:14:4:114,0,255	0/1:15:8:218,0,183	0/1:16:8:233,0,218	1/1:14:14:255,42,0	A	G	9	13	Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780 (3); {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3)	.	Lumbar disc herniation, association with(CM074756)	CCT-TCT|Pro1535Ser|c.4603C>T|p.P1535S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17999364&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23497244&dopt=Abstract)	17999364|23497244|21035103|19449424|17999364|17236192|14299791|13520885|11709013|10573014|10486316|9792885|9529347|9129742|8872475|8530046|8304335|7859283|7721876|7642541|4100752|3220479|3182841|3112157|1536174	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;CELL_CELL_ADHESION;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	PS1,PS3,BA1
L	1	114377568	rs2476601	A	G	228	PASS	PTPN22	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	exonic	NM_001193431,NM_001308297,NM_012411,NM_015967	.	missense SNV	PTPN22:NM_012411:exon12:c.T1693C:p.W565R,PTPN22:NM_001308297:exon13:c.T1786C:p.W596R,PTPN22:NM_001193431:exon14:c.T1858C:p.W620R,PTPN22:NM_015967:exon14:c.T1858C:p.W620R	ENST00000460620.1,ENST00000538253.1,ENST00000528414.1,ENST00000359785.5,ENST00000420377.2,ENST00000525799.1	.	1p13.2	.	.	.	.	.	rs2476601	CLINSIG=other|other|other|other|other;CLNDBN=Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Rheumatoid_arthritis|Systemic_lupus_erythematosus\x2c_susceptibility_to|Hashimoto_thyroiditis\x2c_susceptibility_to|Addison_disease\x2c_susceptibility_to;CLNACC=RCV000009460.2|RCV000009461.2|RCV000009462.2|RCV000009463.2|RCV000009464.2;CLNDSDB=.|MedGen:OMIM:SNOMED_CT|.|.|.;CLNDSDBID=.|C0003873:180300:69896004|.|.|.	Crohn's disease,Rheumatoid arthritis,Type 1 diabetes,Vitiligo,Type 1 diabetes autoantibodies,Type 1 diabetes and autoimmune thyroid diseases,Myasthenia gravis	1	1	0.972644	0.9316	0.9332	1	0.98851445023	0.997596057692	.	0.0,B	0.0,B	9.90832e-14,P	0.000074,N	.	2.54,T	7.5165	0.351	0.645	1.021201,10.78	2.7	AC=50;AN=50;BQB=1;DP4=1,0,412,283;DP=957;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.510154	GT:DP:DV:PL	1/1:24:24:255,72,0	1/1:25:25:255,75,0	1/1:34:34:255,102,0	1/1:28:28:255,84,0	1/1:37:37:255,111,0	1/1:26:26:255,78,0	1/1:28:28:255,84,0	1/1:31:31:255,93,0	1/1:25:25:255,75,0	1/1:19:19:255,57,0	1/1:19:19:255,57,0	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:14:14:255,42,0	1/1:28:28:255,84,0	1/1:35:35:255,105,0	1/1:41:41:255,123,0	1/1:25:25:255,75,0	1/1:30:30:255,90,0	1/1:33:33:255,99,0	1/1:37:37:255,111,0	1/1:34:34:255,102,0	1/1:12:12:255,36,0	1/1:33:32:255,39,0	1/1:25:25:255,75,0	A	G	25	0	{Diabetes, type 1, susceptibility to}, 222100 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3)	24449572(5E-33);24449572(5E-33);24390342(9E-170);23055271(8E-10);21829393(2E-111);21156761(1E-8);21102463(4E-9);20453842(9E-74);20410501(1E-7);19503088(2E-21);19430480(9E-85);18587394(1E-8);17804836(2E-11);17632545(1E-7);17554260(2E-80)	Rheumatoid arthritis, association with(CM041826)	CGG-TGG|Arg620Trp|c.1858C>T|p.R620W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15208781&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18299186&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21597364&dopt=Abstract)	15208781|18299186|21597364|21841778|19898480|19430480|19265110|18981062|18978792|18301444|18056643|17878369|17554300|17436241|17170052|16470599|16339849|16273109|16175503|15744042|15719322|15580548|15565104|15504986|15273934|15208781|15004560|14752163|11882361|10068674|8890164|1373816	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	.	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	115576023	rs10776792	A	G	228	PASS	TSHB	thyroid stimulating hormone, beta	exonic	NM_000549	.	missense SNV	TSHB:NM_000549:exon2:c.A40G:p.T14A	ENST00000369517.1,ENST00000256592.1	.	1p13.2	.	.	.	.	.	rs10776792	.	.	1	1	0.983626	0.9752	0.9707	1	1.0	1.0	0.761,T	0.0,B	0.0,B	1,P	0.931747,N	-0.9,N	0.36,T	2.1733	-0.615	0.225	.	.	AC=50;AN=50;DP4=0,0,720,143;DP=1214;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=0.156401	GT:DP:DV:PL	1/1:37:37:255,111,0	1/1:42:42:255,126,0	1/1:33:33:255,96,0	1/1:32:32:255,96,0	1/1:40:40:255,120,0	1/1:36:36:255,108,0	1/1:29:29:255,87,0	1/1:31:31:255,93,0	1/1:34:34:255,102,0	1/1:32:32:255,96,0	1/1:35:35:255,105,0	1/1:31:31:255,93,0	1/1:29:29:255,87,0	1/1:27:27:255,81,0	1/1:34:34:255,102,0	1/1:42:42:255,126,0	1/1:39:39:255,117,0	1/1:22:22:255,66,0	1/1:37:37:255,111,0	1/1:29:29:255,87,0	1/1:44:44:255,132,0	1/1:43:43:255,129,0	1/1:17:17:255,51,0	1/1:44:44:255,132,0	1/1:44:44:255,132,0	A	G	25	0	Hypothryoidism, congenital, nongoitrous 4, 275100 (3)	.	Hypothyroidism(CM991218)	GCA-ACA|Ala14Thr|c.40G>A|p.A14T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10411113&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	10411113|20981092|15292359|12364478|11788671|11549695|11297590|9589689|8636437|3839756|3511905|3459258|3398841|3006075|2906326|2792087|2574151|2457586|2369842|1971148|1692298	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;ANATOMICAL_STRUCTURE_MORPHOGENESIS;CELL_CELL_SIGNALING;ANATOMICAL_STRUCTURE_DEVELOPMENT;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	.	RECEPTOR_BINDING;HORMONE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GLYCOPROTEIN_HORMONES;REACTOME_PEPTIDE_HORMONE_BIOSYNTHESIS;REACTOME_AMINE_DERIVED_HORMONES;REACTOME_HORMONE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	1	115829313	rs6330	G	A	222	PASS	NGF	nerve growth factor (beta polypeptide)	exonic	NM_002506	.	missense SNV	NGF:NM_002506:exon3:c.C104T:p.A35V	ENST00000425449.1,ENST00000369512.2	.	1p13.2	.	.	Score=1000;Name=V$AP2REP_01	.	.	rs6330	.	.	0.139535	0.1637	0.247404	0.3691	0.3656	0.1670	0.153139557427	0.144230925481	0.022,D	0.003,B	0.002,B	0.254114,P	0.137281,N	2.785,M	0.09,T	5.8933	1.264	2.299	2.434408,19.04	4.45	AC=10;AN=20;BQB=0.94375;DP4=186,157,133,155;DP=833;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.681941;SF=2,7,8,10,12,15,18,20,21,22;SGB=-0.693021;VDB=0.995889	GT:DP:DV:PL	.	.	0/1:63:27:255,0,255	.	.	.	.	0/1:86:43:255,0,255	0/1:62:24:255,0,255	.	0/1:58:31:255,0,255	.	0/1:71:27:255,0,255	.	.	0/1:55:28:255,0,255	.	.	0/1:67:38:255,0,255	.	0/1:57:21:255,0,255	0/1:84:36:255,0,255	0/1:28:13:255,0,255	.	.	G	A	0	10	Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)	.	Anxiety-related traits, gender-dependent, association with(CM086294)	GTC-GCC|Val35Ala|c.104T>C|p.V35A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18763222&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22330829&dopt=Abstract)	18763222|22330829|25359976|25359976|20978020|15260993|15131306|15067320|15026568|14985763|14976160|12915691|11799202|11729324|11418861|10806167|10659850|8808283|7789166|6688123|6648531|6330750|6209808|4006521|3871525|3306916|3299258|2983544|2906326|1692298	.	.	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY	PID_SHP2_PATHWAY;PID_P75NTRPATHWAY;PID_TRKRPATHWAY;PID_PI3KPLCTRKPATHWAY	BIOCARTA_ERK_PATHWAY;BIOCARTA_NGF_PATHWAY;BIOCARTA_CDK5_PATHWAY;BIOCARTA_TRKA_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_ARMS_MEDIATED_ACTIVATION;REACTOME_PROLONGED_ERK_ACTIVATION_EVENTS;REACTOME_SIGNALLING_TO_RAS;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALLING_TO_ERKS;REACTOME_SIGNALLING_TO_P38_VIA_RIT_AND_RIN;REACTOME_RETROGRADE_NEUROTROPHIN_SIGNALLING;REACTOME_PI3K_AKT_ACTIVATION;REACTOME_P75NTR_RECRUITS_SIGNALLING_COMPLEXES;REACTOME_P75NTR_SIGNALS_VIA_NFKB;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_NRIF_SIGNALS_CELL_DEATH_FROM_THE_NUCLEUS;REACTOME_NFKB_IS_ACTIVATED_AND_SIGNALS_SURVIVAL;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING	PS1,PS3,BA1
L	1	116310967	rs4074536	T	C	224.04	PASS	CASQ2	calsequestrin 2 (cardiac muscle)	exonic	NM_001232	.	missense SNV	CASQ2:NM_001232:exon1:c.A196G:p.T66A	ENST00000456138.2,ENST00000261448.5	.	1p13.1	.	.	.	.	.	rs4074536	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000037136.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.538206	0.5159	0.401158	0.3394	0.3265	0.5483	0.530628027565	0.531249882212	0.928,T	0.0,B	0.0,B	1,P	0.025162,N	-1.7,N	1.18,T	8.6205	0.685	1.594	.	3.44	AC=31;AN=46;BQB=0.794588;DP4=303,88,506,159;DP=1480;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.604009;SF=0,1,2,3,4,5,6,7,8,10,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0637927	GT:DP:DV:PL	1/1:53:53:255,160,0	0/1:41:20:255,0,255	1/1:44:44:255,132,0	0/1:52:27:255,0,255	1/1:48:48:255,144,0	0/1:52:23:255,0,255	0/1:55:23:255,0,255	1/1:30:30:255,90,0	0/1:45:22:255,0,255	.	0/1:68:32:255,0,255	.	0/1:32:18:255,0,255	0/1:42:17:255,0,255	0/1:43:15:255,0,255	0/1:51:27:255,0,255	0/1:55:27:255,0,255	1/1:32:32:255,96,0	1/1:34:34:255,102,0	1/1:33:33:255,99,0	1/1:51:51:255,154,0	0/1:59:21:255,0,255	0/1:24:14:255,0,255	0/1:67:30:255,0,255	0/1:45:24:255,0,255	T	C	8	15	Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)	.	QRS interval, association with(CM108210)	ACG-GCG|Thr66Ala|c.196A>G|p.T66A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21076409&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24025405&dopt=Abstract)	21076409|24025405|17607358|16932808|16908766|11704930|8406504	SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;STRIATED_MUSCLE_CONTRACTION_GO_0006941;ANATOMICAL_STRUCTURE_DEVELOPMENT;HEART_DEVELOPMENT;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	1	154573967	rs2229857	T	C	225.21	PASS	ADAR	adenosine deaminase, RNA-specific	exonic	NM_001025107,NM_001111,NM_001193495,NM_015840,NM_015841	.	missense SNV	ADAR:NM_001025107:exon2:c.A266G:p.K89R,ADAR:NM_001111:exon2:c.A1151G:p.K384R,ADAR:NM_001193495:exon2:c.A266G:p.K89R,ADAR:NM_015840:exon2:c.A1151G:p.K384R,ADAR:NM_015841:exon2:c.A1151G:p.K384R	ENST00000368471.3,ENST00000368474.4,ENST00000292205.5	.	1q21.3	.	.	.	.	.	rs2229857	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000175658.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.647841	0.6687	0.622604	0.6079	0.6956	0.7166	0.673047542113	0.661057983173	0.295,T	0.001,B	0.001,B	1,P	0.020199,N	2.015,M	2.51,T	4.8985	-0.036	-0.342	.	.	AC=37;AN=48;BQB=0.941292;DP4=135,94,521,334;DP=1464;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98216;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24;SGB=-0.693079;VDB=0.0405803	GT:DP:DV:PL	0/1:48:29:255,0,255	1/1:45:45:255,135,0	1/1:41:41:255,123,0	1/1:40:40:255,120,0	1/1:58:58:255,175,0	0/1:71:42:255,0,255	0/1:33:20:255,0,255	0/1:45:17:255,0,255	1/1:60:60:255,181,0	0/1:37:20:255,0,255	0/1:45:32:255,0,255	1/1:32:32:255,96,0	0/1:52:32:255,0,255	1/1:56:56:255,169,0	1/1:40:40:255,120,0	.	1/1:45:45:255,135,0	0/1:35:14:255,0,255	1/1:45:45:255,135,0	1/1:38:38:255,114,0	0/1:45:24:255,0,255	0/1:63:27:255,0,255	0/1:23:11:255,0,255	1/1:54:54:255,163,0	1/1:33:33:255,99,0	T	C	13	11	Dyschromatosis symmetrica hereditaria, 127400 (3); Aicardi-Goutieres syndrome 6, 615010 (3)	.	IFN gamma response to Rubella, association with(CM1412786)	AAA-AGA|Lys384Arg|c.1151A>G|p.K384R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25098560&dopt=Abstract)	25098560|26275108|25243380|24262145|23001123|21939710|19017046|18362360|17478391|16935814|16817193|12916015|12453429|11099415|10965125|8586444|7972084|7862132|7565688|7490742|3203381|3175763	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION	CYTOPLASM;NUCLEUS	.	KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY	.	.	REACTOME_MRNA_PROCESSING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	155162067	rs4072037	C	T	225.12	PASS	MUC1	mucin 1, cell surface associated	exonic	NM_001018016,NM_001018017,NM_001044390,NM_001044391,NM_001044392,NM_001044393,NM_001204285,NM_001204286,NM_001204287,NM_001204288,NM_001204289,NM_001204291,NM_001204292,NM_001204293,NM_001204294,NM_001204295,NM_001204296,NM_001204297,NM_002456	.	synonymous SNV	MUC1:NM_001018016:exon2:c.G93A:p.T31T,MUC1:NM_001018017:exon2:c.G66A:p.T22T,MUC1:NM_001044390:exon2:c.G66A:p.T22T,MUC1:NM_001044391:exon2:c.G66A:p.T22T,MUC1:NM_001044392:exon2:c.G93A:p.T31T,MUC1:NM_001044393:exon2:c.G66A:p.T22T,MUC1:NM_001204285:exon2:c.G66A:p.T22T,MUC1:NM_001204286:exon2:c.G93A:p.T31T,MUC1:NM_001204287:exon2:c.G93A:p.T31T,MUC1:NM_001204288:exon2:c.G93A:p.T31T,MUC1:NM_001204289:exon2:c.G93A:p.T31T,MUC1:NM_001204291:exon2:c.G93A:p.T31T,MUC1:NM_001204292:exon2:c.G93A:p.T31T,MUC1:NM_001204293:exon2:c.G66A:p.T22T,MUC1:NM_001204294:exon2:c.G66A:p.T22T,MUC1:NM_001204295:exon2:c.G93A:p.T31T,MUC1:NM_001204296:exon2:c.G93A:p.T31T,MUC1:NM_001204297:exon2:c.G93A:p.T31T,MUC1:NM_002456:exon2:c.G66A:p.T22T	ENST00000368395.1,ENST00000337604.5,ENST00000457295.2,ENST00000338684.5,ENST00000368390.3,ENST00000368389.2,ENST00000368393.3,ENST00000368398.3,ENST00000438413.1,ENST00000368396.4,ENST00000342482.4,ENST00000343256.5,ENST00000368392.3,ENST00000462215.1	.	1q22	.	.	.	.	.	rs4072037	.	Esophageal cancer and gastric cancer,Magnesium levels	0.795681	0.7619	0.628794	0.5724	0.5790	0.7838	0.803215848392	0.793269317308	.	.	.	.	.	.	.	.	-0.349	0.725	1.284354,12.19	.	AC=37;AN=48;BQB=0.998397;DP4=172,93,608,315;DP=1552;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.924401;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693147;VDB=0.604912	GT:DP:DV:PL	1/1:45:45:255,135,0	1/1:42:42:255,126,0	1/1:41:41:255,123,0	0/1:39:17:255,0,255	0/1:40:20:255,0,255	1/1:57:57:255,172,0	0/1:41:13:253,0,255	1/1:54:54:255,163,0	0/1:45:22:255,0,255	0/1:33:16:255,0,255	0/1:67:34:255,0,255	0/1:45:29:255,0,255	1/1:52:52:255,157,0	1/1:69:69:255,208,0	0/1:56:31:255,0,255	1/1:46:46:255,138,0	1/1:49:49:255,148,0	1/1:39:39:255,117,0	1/1:41:41:255,123,0	0/1:50:26:255,0,255	0/1:52:24:255,0,255	1/1:81:81:255,244,0	.	0/1:55:26:255,0,255	1/1:49:49:255,148,0	C	T	13	11	Medullary cystic kidney disease 1, 174000 (3)	20729852(4E-7);20700443(2E-36)	Gastric cancer, association with(CS099921)	IVS1 as G-A +8|c.66G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19885554&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21070779&dopt=Abstract)	19885554|21070779|23396133|17889671|17641781|17058067|16567644|16547220|16427018|15623537|15384011|15169768|15113850|12955090|12942364|12826677|11464247|10674981|8835095|7626896|6651217|3600778|3447512|3268039|3268038|2394722|2318825|2014168|1697589	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PS1,PS3,BA1
L	1	156107534	rs4641	C	T	143.98	PASS	LMNA	lamin A/C	exonic	NM_001257374,NM_001282624,NM_001282625,NM_001282626,NM_005572,NM_170707	.	synonymous SNV	LMNA:NM_001257374:exon10:c.C1362T:p.H454H,LMNA:NM_001282626:exon10:c.C1698T:p.H566H,LMNA:NM_005572:exon10:c.C1698T:p.H566H,LMNA:NM_170707:exon10:c.C1698T:p.H566H,LMNA:NM_001282624:exon11:c.C1455T:p.H485H,LMNA:NM_001282625:exon13:c.C1698T:p.H566H	ENST00000347559.2,ENST00000368299.3,ENST00000496738.1,ENST00000448611.2,ENST00000368297.1,ENST00000392353.3,ENST00000368301.2,ENST00000368300.4,ENST00000473598.2,ENST00000361308.4	.	1q22	.	.	.	.	.	rs4641	CLINSIG=other|Benign;CLNDBN=not_specified|not_provided;CLNACC=RCV000041327.7|RCV000057348.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.269103	0.2738	0.220248	0.1970	0.2655	0.3081	0.245788525268	0.263221137019	.	.	.	.	.	.	.	.	-1.057	-1.243	1.319395,12.37	.	AC=17;AN=28;BQB=0.269146;DP4=23,70,26,86;DP=255;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.961166;RPB=0.381255;SF=1,4,5,6,8,9,10,11,12,17,19,20,23,24;SGB=-0.662043;VDB=0.198714	GT:DP:DV:PL	.	0/1:13:9:241,0,153	.	.	1/1:16:16:233,48,0	0/1:20:8:255,0,242	1/1:11:11:227,33,0	.	1/1:7:7:150,21,0	0/1:7:3:107,0,133	0/1:14:5:98,0,255	0/1:8:3:82,0,105	0/1:16:6:172,0,181	.	.	.	.	0/1:10:4:89,0,182	.	0/1:17:9:189,0,133	0/1:21:5:111,0,255	.	.	0/1:23:14:255,0,243	0/1:22:12:255,0,228	C	T	3	11	Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 2, 151660 (3); Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3); Charcot-Marie-Tooth disease, type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3)	.	Metabolic syndrome, association with(CM003892)	CAC-CAT|His566His|c.1698C>T|p.H566H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15205219&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21980471&dopt=Abstract)	15205219|21980471|25649378|24203701|23666920|23644458|23498943|23313286|23243001|23048029|22541428|22431096|22308344|22065502|21346760|21173262|21085127|20848652|20421363|20127487|19933576|19764019|19283854|19172989|19084400|18927124|18769635|18611980|18551513|18478590|18348272|18311132|17935239|17881656|17848409|17711925|17652517|17536044|17469202|17467691|17446932|17377071|17291448|17250669|17150192|17139325|17136397|16862216|16738054|16645051|16636128|16492728|16481476|16415042|16407522|16278265|16208517|16186497|16174718|16129834|16129833|16126733|16115815|16014412|15998779|15996213|15972724|15961312|15952983|15843432|15843404|15843403|15793835|15770669|15750600|15668447|15622532|15548545|15531479|15367494|15342704|15317753|15286156|15184648|15148145|15060110|15032975|14755334|14749366|14627682|14615128|12927431|12927424|12920062|12788894|12784312|12768443|12748643|12714972|12702809|12673789|12629077|12628721|12196663|12075506|11929849|11799477|11792811|11503164|11397881|11344241|11231979|11102973|11015599|10999791|10814726|10739764|10739751|10662742|10655060|10655047|10587585|10580070|10080180|8838815|8621584|8344919|8175923|3501373|3462705|3453101|3426582|2583287|2415378	.	.	.	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	PID_CASPASE_PATHWAY	BIOCARTA_CASPASE_PATHWAY;BIOCARTA_FAS_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_DEATH_PATHWAY;BIOCARTA_TNFR1_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_APOPTOSIS;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	1	158607935	rs857725	T	G	217.13	PASS	SPTA1	spectrin, alpha, erythrocytic 1	exonic	NM_003126	.	missense SNV	SPTA1:NM_003126:exon36:c.A5077C:p.K1693Q	ENST00000368147.4	.	1q23.1	.	.	.	.	.	rs857725	.	.	0.450166	0.4365	0.245607	0.2184	0.2737	0.4281	0.445635280245	0.453125038462	0.232,T	0.004,B	0.0,B	1,P	0.790277,N	-0.345,N	0.77,T	3.7514	-0.844	-0.128	.	.	AC=20;AN=32;BQB=0.681393;DP4=144,65,221,129;DP=768;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.729745;SF=2,3,4,5,6,7,11,12,14,15,19,20,21,22,23,24;SGB=-0.676189;VDB=0.206418	GT:DP:DV:PL	.	.	0/1:25:11:255,0,255	1/1:34:34:255,102,0	1/1:40:40:255,120,0	1/1:46:46:255,138,0	0/1:35:22:255,0,255	0/1:40:16:255,0,255	.	.	.	0/1:30:17:255,0,255	0/1:30:15:255,0,255	.	0/1:39:25:255,0,255	0/1:28:17:255,0,255	.	.	.	0/1:33:12:255,0,255	0/1:39:18:255,0,255	0/1:43:16:255,0,255	0/1:19:6:154,0,255	0/1:44:21:255,0,255	1/1:34:34:255,102,0	T	G	4	12	Elliptocytosis-2, 130600 (3); Pyropoikilocytosis, 266140 (3); Spherocytosis, type 3, 270970 (3)	.	Mean cell haemoglobin concentration, association with(CM1212304)	AAG-CAG|Lys1693Gln|c.5077A>C|p.K1693Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23222517&dopt=Abstract)	23222517|16407147|16150946|14628287|13115472|9887280|9746802|9192783|9075575|8941647|8490186|8444470|8435324|8370581|8193371|8132574|8040317|8018926|7819065|7229027|7074218|6952254|6888551|6849840|6725555|6707213|6472478|6236232|4077050|4027386|3940543|3922449|3818958|3785322|3752066|3708157|3692477|3597773|3458204|3359047|3337911|3311220|3268039|3186715|3167214|2987946|2895677|2892777|2794061|2568862|2568861|2567189|2384601|2365352|2346729|2328319|2227954|2043465|1845156|1689726|1679439|1672285|1642244|1638030|1634521|1541680|1353056|1191563|489004|293128	ACTIN_FILAMENT_ORGANIZATION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CELL_CORTEX_PART;CELL_CORTEX;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CORTICAL_CYTOSKELETON;CORTICAL_ACTIN_CYTOSKELETON	ACTIN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;ACTIN_FILAMENT_BINDING;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	PS1,PS3,BA1
L	1	161479745	rs1801274	A	G	222.46	PASS	FCGR2A	Fc fragment of IgG, low affinity IIa, receptor (CD32)	exonic	NM_001136219,NM_021642	.	missense SNV	FCGR2A:NM_001136219:exon4:c.A500G:p.H167R,FCGR2A:NM_021642:exon4:c.A497G:p.H166R	ENST00000367972.4,ENST00000271450.6	.	1q23.3	.	.	.	Score=0.975396;Name=chr1:161560921	.	rs1801274	CLINSIG=other|other|other;CLNDBN=Lupus_nephritis\x2c_susceptibility_to|Pseudomonas_aeruginosa\x2c_susceptibility_to_chronic_infection_by\x2c_in_cystic_fibrosis|Malaria\x2c_severe\x2c_susceptibility_to;CLNACC=RCV000015946.3|RCV000015947.3|RCV000054529.2;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C1970029	Systemic lupus erythematosus,Ulcerative colitis,Inflammatory bowel disease,Kawasaki disease	0.307309	0.2778	0.441693	0.5310	0.4791	0.3274	0.336140656968	0.313702004808	0.168,T	0.002,B	0.0,B	1,P	0.000000,N	1.665,L	2.78,T	4.4985	-0.971	-0.902	.	.	AC=14;AN=26;BQB=0.851333;DP4=302,150,371,172;DP=1358;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.321882;SF=1,2,5,6,8,9,12,15,18,20,21,22,23;SGB=-0.69312;VDB=0.8079	GT:DP:DV:PL	.	0/1:74:32:255,0,255	0/1:73:37:255,0,255	.	.	0/1:97:57:255,0,255	0/1:78:41:255,0,255	.	0/1:77:43:255,0,255	1/1:67:67:255,202,0	.	.	0/1:76:35:255,0,255	.	.	0/1:88:43:255,0,255	.	.	0/1:82:46:255,0,255	.	0/1:70:36:255,0,255	0/1:97:50:255,0,255	0/1:43:17:255,0,255	0/1:73:39:255,0,255	.	A	G	1	12	{Lupus nephritis, susceptibility to}, 152700 (3); {Malaria, severe, susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)	24871463(9E-6);23128233(2E-38);22081228(7E-11);21297633(2E-20);19915573(2E-12)	Lupus nephritis, protection against, association(CM960640)	CGT-CAT|Arg166His|c.497G>A|p.R166H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8636449&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23049979&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19915573&dopt=Abstract)	8636449|23049979|19915573|22608500|19965803|19915573|19011614|15367919|10675363|9843982|8636449|2971615|2965389|2643627|2565886|2521732|2414215|2139735|1683644|1301170	.	.	.	KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_LEISHMANIA_INFECTION;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	PID_PTP1BPATHWAY;PID_INTEGRIN2_PATHWAY	.	.	PS1,PS3,BA1
L	1	161751741	rs1058405	A	G	211.67	PASS	ATF6	activating transcription factor 6	exonic	NM_007348	.	missense SNV	ATF6:NM_007348:exon3:c.A199G:p.M67V	ENST00000367942.3	.	1q23.3	.	.	.	.	.	rs1058405	.	.	0.254153	0.2629	0.166933	0.2118	0.2360	0.2926	0.288667866769	0.2704326875	0.372,T	0.039,B	0.049,B	0.0351668,P	0.000000,D	2.175,M	2.55,T	8.4476	2.023	2.130	1.345828,12.51	3.83	AC=10;AN=18;BQB=0.988233;DP4=68,24,82,27;DP=280;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.7081;SF=1,3,4,12,14,15,19,20,21;SGB=-0.680642;VDB=0.416493	GT:DP:DV:PL	.	0/1:23:12:255,0,255	.	0/1:28:13:255,0,255	0/1:29:12:222,0,255	.	.	.	.	.	.	.	0/1:16:10:255,0,158	.	0/1:13:8:250,0,171	0/1:27:12:255,0,255	.	.	.	0/1:15:6:194,0,254	1/1:23:23:255,69,0	0/1:27:13:255,0,255	.	.	.	A	G	1	8	Achromatopsia 7, 616517 (3)	.	Fasting plasma glucose levels, association with(CM077506)	ATG-GTG|Met67Val|c.199A>G|p.M67V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17440018&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19667116&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19667116&dopt=Abstract)	17440018|19667116|26063662|26029869|17991856|17440018|16505252|12110171|12110159|11163209|10866666|10564271|9837962|9271374|2516827	RNA_METABOLIC_PROCESS;PROTEIN_FOLDING;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;REGULATION_OF_GENE_SPECIFIC_TRANSCRIPTION;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;UNFOLDED_PROTEIN_RESPONSE;RESPONSE_TO_BIOTIC_STIMULUS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;PROTEIN_METABOLIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;ER_NUCLEAR_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;NUCLEAR_LUMEN;NUCLEUS;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;DNA_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_ALZHEIMERS_DISEASE	PID_P38ALPHABETADOWNSTREAMPATHWAY	.	REACTOME_DIABETES_PATHWAYS;REACTOME_PERK_REGULATED_GENE_EXPRESSION;REACTOME_ACTIVATION_OF_CHAPERONES_BY_ATF6_ALPHA;REACTOME_ACTIVATION_OF_GENES_BY_ATF4;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_ATF6_ALPHA	PS1,PS3,BA1
L	1	169498975	rs6030	T	C	210.31	PASS	F5	coagulation factor V (proaccelerin, labile factor)	exonic	NM_000130	.	missense SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	ENST00000367796.3,ENST00000367797.3	.	1q24.2	.	.	.	.	.	rs6030	.	Uric acid levels	0.269103	0.2837	0.308706	0.2894	0.3351	0.2606	0.244257082695	0.262019165865	1.0,T	0.0,B	0.0,B	1,P	0.799742,N	-1.195,N	-5.02,D	3.2522	-0.913	-2.415	.	.	AC=15;AN=26;BQB=0.896171;DP4=128,58,151,58;DP=567;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.529756;SF=0,2,7,12,13,14,16,18,19,20,21,23,24;SGB=-0.69168;VDB=0.257944	GT:DP:DV:PL	0/1:34:19:255,0,255	.	0/1:37:23:255,0,255	.	.	.	.	1/1:19:19:255,57,0	.	.	.	.	0/1:27:14:255,0,255	0/1:25:10:255,0,255	0/1:21:3:93,0,255	.	0/1:55:29:255,0,255	.	0/1:31:16:255,0,255	0/1:25:11:255,0,255	0/1:40:15:255,0,255	1/1:19:19:255,57,0	.	0/1:27:15:255,0,255	0/1:35:16:255,0,255	T	C	2	11	Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)	23703922(3E-6)	Thrombosis, increased risk(CM070090)	GTG-ATG|Val1764Met|c.5290G>A|p.V1764M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16542711&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17640947&dopt=Abstract)	16542711|20981092|17640947|16493002|15534175|14996674|14976157|14695241|14673478|14617013|12393635|12393490|11781258|11686338|11564077|11435304|11110695|11018168|10942390|10666427|10586886|10507841|10494770|10477778|10444192|10348711|10328130|9759618|9746807|9734642|9576178|9518910|9488630|9459326|9454742|9454741|9415695|9375735|9372726|9245936|9157576|9028947|8900278|8822583|8735145|8652809|8616100|8611679|8566967|8302325|8164741|8164730|8049422|7911872|7910348|7877648|7803250|7586244|6480825|3220473|3175767|3110773|3092220|2827731|1567832	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	169510118	rs9332608	G	A	223.33	PASS	F5	coagulation factor V (proaccelerin, labile factor)	exonic	NM_000130	.	missense SNV	F5:NM_000130:exon13:c.C4210T:p.P1404S	ENST00000367796.3,ENST00000367797.3	.	1q24.2	.	.	Score=893;Name=V$CEBPB_01	.	.	rs9332608	.	.	0.169435	0.1657	0.0940495	0.0370	0.0729	0.1411	0.152373511485	0.170672908654	0.137,T	0.01,B	0.051,B	0.999707,P	0.137325,N	1.74,L	1.43,T	9.0221	0.469	-0.139	.	.	AC=11;AN=18;BQB=0.936421;DP4=314,127,478,168;DP=1412;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.93836;SF=2,7,13,16,18,19,20,21,23;SGB=-0.693147;VDB=0.99366	GT:DP:DV:PL	.	.	0/1:113:60:255,0,255	.	.	.	.	1/1:117:117:255,255,0	.	.	.	.	.	0/1:114:56:255,0,255	.	.	0/1:137:57:255,0,255	.	0/1:124:55:255,0,255	0/1:117:50:255,0,255	0/1:115:55:255,0,255	1/1:146:146:255,255,0	.	0/1:104:50:255,0,255	.	G	A	2	7	Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)	.	Deep vein thrombosis(CM125915)	CCA-TCA|Pro1404Ser|c.4210C>T|p.P1404S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22353194&dopt=Abstract)	22353194|16493002|15534175|14996674|14976157|14695241|14673478|14617013|12393635|12393490|11781258|11686338|11564077|11435304|11110695|11018168|10942390|10666427|10586886|10507841|10494770|10477778|10444192|10348711|10328130|9759618|9746807|9734642|9576178|9518910|9488630|9459326|9454742|9454741|9415695|9375735|9372726|9245936|9157576|9028947|8900278|8822583|8735145|8652809|8616100|8611679|8566967|8302325|8164741|8164730|8049422|7911872|7910348|7877648|7803250|7586244|6480825|3220473|3175767|3110773|3092220|2827731|1567832	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	169511755	rs4524	T	C	223	PASS	F5	coagulation factor V (proaccelerin, labile factor)	exonic	NM_000130	.	missense SNV	F5:NM_000130:exon13:c.A2573G:p.K858R	ENST00000367796.3,ENST00000367797.3	.	1q24.2	.	.	.	.	.	rs4524	.	Venous thromboembolism	0.240864	0.248	0.266773	0.2436	0.2768	0.2189	0.215160992343	0.231971403846	0.855,T	0.0,B	0.0,B	1,P	0.635169,N	-1.355,N	2.17,T	5.1617	-0.097	-0.454	.	.	AC=14;AN=24;BQB=0.598267;DP4=167,110,259,140;DP=899;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.618258;SF=0,2,7,12,13,14,16,18,19,20,21,23;SGB=-0.692914;VDB=0.63377	GT:DP:DV:PL	0/1:56:25:255,0,255	.	0/1:58:24:255,0,255	.	.	.	.	1/1:55:55:255,166,0	.	.	.	.	0/1:44:24:255,0,255	0/1:42:17:255,0,255	0/1:47:23:255,0,255	.	0/1:58:27:255,0,255	.	0/1:67:34:255,0,255	0/1:57:26:255,0,255	0/1:65:39:255,0,255	1/1:71:71:255,214,0	.	0/1:56:34:255,0,255	.	T	C	2	10	Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)	.	Thrombosis, increased risk, association with(CM101722)	AGA-AAA|Arg858Lys|c.2573G>A|p.R858K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20124536&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25772935&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17284699&dopt=Abstract)	20124536|25772935|17284699|16493002|15534175|14996674|14976157|14695241|14673478|14617013|12393635|12393490|11781258|11686338|11564077|11435304|11110695|11018168|10942390|10666427|10586886|10507841|10494770|10477778|10444192|10348711|10328130|9759618|9746807|9734642|9576178|9518910|9488630|9459326|9454742|9454741|9415695|9375735|9372726|9245936|9157576|9028947|8900278|8822583|8735145|8652809|8616100|8611679|8566967|8302325|8164741|8164730|8049422|7911872|7910348|7877648|7803250|7586244|6480825|3220473|3175767|3110773|3092220|2827731|1567832	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	169519049	rs6025	T	C	228	PASS	F5	coagulation factor V (proaccelerin, labile factor)	exonic	NM_000130	.	missense SNV	F5:NM_000130:exon10:c.A1601G:p.Q534R	ENST00000546081.1,ENST00000367796.3,ENST00000367797.3	.	1q24.2	.	.	.	.	.	rs6025	CLINSIG=Pathogenic|other|other|other|Pathogenic;CLNDBN=Thrombophilia_due_to_factor_V_Leiden|Ischemic_stroke\x2c_susceptibility_to|Budd-Chiari_syndrome\x2c_susceptibility_to|Recurrent_abortion|Factor_V_deficiency;CLNACC=RCV000000674.2|RCV000000675.3|RCV000000676.2|RCV000023935.2|RCV000205002.1;CLNDSDB=MedGen|.|.|MedGen:OMIM:SNOMED_CT|MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C2674152|.|.|C0000809:614389:102878001|C0015499:227400:326:4320005	Venous thromboembolism	1	1	0.99401	0.9786	0.9785	1	0.98315467075	1.0	1.0,T	.	.	1.03324e-12,P	0.005377,N	.	-5.01,D	9.5997	1.434	2.020	.	5.71	AC=50;AN=50;BQB=1;DP4=1,0,638,157;DP=1083;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693136;VDB=0.014799	GT:DP:DV:PL	1/1:35:35:255,105,0	1/1:38:38:255,114,0	1/1:25:25:255,75,0	1/1:31:31:255,93,0	1/1:20:20:255,60,0	1/1:40:40:255,120,0	1/1:27:27:255,81,0	1/1:32:32:255,96,0	1/1:40:40:255,120,0	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:39:39:255,117,0	1/1:20:20:255,60,0	1/1:35:35:255,105,0	1/1:28:28:255,84,0	1/1:31:31:255,93,0	1/1:38:38:255,114,0	1/1:21:21:255,63,0	1/1:30:30:255,90,0	1/1:28:28:255,84,0	1/1:43:43:255,129,0	1/1:53:53:255,160,0	1/1:20:20:255,60,0	1/1:41:41:255,123,0	1/1:28:27:255,24,0	T	C	25	0	Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)	22672568(2E-22)	Thrombosis, increased risk(CM940389)	CGA-CAA|Arg534Gln|c.1601G>A|p.R534Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8164741&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23677252&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=&dopt=Abstract)	8164741|23677252|16493002|15534175|14996674|14976157|14695241|14673478|14617013|12393635|12393490|11781258|11686338|11564077|11435304|11110695|11018168|10942390|10666427|10586886|10507841|10494770|10477778|10444192|10348711|10328130|9759618|9746807|9734642|9576178|9518910|9488630|9459326|9454742|9454741|9415695|9375735|9372726|9245936|9157576|9028947|8900278|8822583|8735145|8652809|8616100|8611679|8566967|8302325|8164741|8164730|8049422|7911872|7910348|7877648|7803250|7586244|6480825|3220473|3175767|3110773|3092220|2827731|1567832	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	169566313	rs6127	C	T	227.76	PASS	SELP	selectin P (granule membrane protein 140kDa, antigen CD62)	exonic	NM_003005	.	missense SNV	SELP:NM_003005:exon11:c.G1807A:p.D603N	ENST00000367793.2,ENST00000367794.2,ENST00000367788.2,ENST00000367786.2,ENST00000367791.2,ENST00000263686.6,ENST00000367792.2,ENST00000458599.2	.	1q24.2	.	.	.	.	.	rs6127	.	.	0.966777	0.9573	0.750799	0.6455	0.6386	0.9721	0.966309104135	0.971153634615	0.907,T	0.001,B	0.0,B	1,P	0.538069,N	-0.29,N	-0.19,T	5.7018	-0.262	-0.666	.	.	AC=49;AN=50;BQB=0.771603;DP4=9,5,489,272;DP=1084;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.448901;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693139;VDB=0.089841	GT:DP:DV:PL	1/1:36:36:255,108,0	1/1:26:26:255,78,0	1/1:37:37:255,111,0	1/1:32:32:255,96,0	1/1:29:29:255,87,0	1/1:34:34:255,102,0	1/1:29:29:255,87,0	1/1:39:39:255,117,0	1/1:35:35:255,105,0	1/1:23:23:255,69,0	1/1:43:43:255,129,0	1/1:38:38:255,114,0	1/1:19:19:255,57,0	1/1:30:30:255,87,0	1/1:29:29:255,87,0	0/1:29:15:255,0,255	1/1:39:39:255,117,0	1/1:26:26:255,78,0	1/1:37:37:255,111,0	1/1:35:35:255,105,0	1/1:27:27:255,81,0	1/1:30:30:255,90,0	1/1:16:16:255,48,0	1/1:28:28:255,84,0	1/1:29:29:255,87,0	C	T	24	1	{Atopy, susceptibility to}, 147050 (3)	.	Higher platelet SELP measures(CM093649)	AAC-GAC|Asn603Asp|c.1807A>G|p.N603D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19395438&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22192915&dopt=Abstract)	19395438|22192915|20167578|19349621|14681304|12929084|12860908|12858167|12736689|12480714|12391189|12189250|12165563|12165540|11835025|11237770|11157711|10074481|9668170|8698129|7688665|7679406|2473156|2472431|2466574|1717161|1705568|1701178|1694218	.	ORGANELLE_PART;CYTOPLASMIC_VESICLE_MEMBRANE;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;ORGANELLE_MEMBRANE;CYTOPLASMIC_VESICLE;CYTOPLASMIC_VESICLE_PART;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;INTEGRAL_TO_PLASMA_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;SECRETORY_GRANULE;INTRACELLULAR_ORGANELLE_PART;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;SOLUBLE_FRACTION;VESICLE_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_IL4_2PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY	BIOCARTA_GRANULOCYTES_PATHWAY;BIOCARTA_LAIR_PATHWAY;BIOCARTA_EPHA4_PATHWAY;BIOCARTA_MONOCYTE_PATHWAY	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	171621525	rs2234926	C	T	222	PASS	MYOC	myocilin, trabecular meshwork inducible glucocorticoid response	exonic	NM_000261	.	missense SNV	MYOC:NM_000261:exon1:c.G227A:p.R76K	ENST00000037502.6	.	1q24.3	.	.	.	.	.	rs2234926	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000173089.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0830565	0.0794	0.136182	0.0982	0.1501	0.0834	0.074272617611	0.0769231021635	0.049,D	0.956,D	0.984,D	0.994739,P	0.000037,N	2.765,M	0.2,T	11.2975	0.332	2.639	.	3.43	AC=3;AN=6;BQB=0.661248;DP4=94,46,73,45;DP=329;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.104886;SF=3,15,20;SGB=-0.693145;VDB=0.38258	GT:DP:DV:PL	.	.	.	0/1:89:41:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:87:46:255,0,255	.	.	.	.	0/1:82:31:255,0,255	.	.	.	.	C	T	0	3	Glaucoma 1A, primary open angle, 137750 (3)	.	Glaucoma, primary congenital(CM1111597)	AGA-AAA|Arg76Lys|c.227G>A|p.R76K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21168818&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23029558&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16466712&dopt=Abstract)	21168818|23029558|16466712|17663725|17499207|17389500|17317787|17210859|16954374|16401791|16198165|15795224|15733270|15623777|15483649|15456875|15069026|15025728|14193667|12791035|12556371|12522550|12395298|12189160|12019210|11774072|11773009|11738824|11726619|11709019|11604506|11595024|11535458|11292420|11004290|10873982|10819638|10545602|10330365|10196380|9792882|9754180|9697688|9680392|9588210|9556305|9548973|9535666|9521427|9497363|9490287|9446806|9361308|9345106|9328473|9169133|9005853|8749308|8513321|6770678|6770678|3756132	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	173878862	rs5877	T	C	224.4	PASS	SERPINC1	serpin peptidase inhibitor, clade C (antithrombin), member 1	exonic	NM_000488	.	synonymous SNV	SERPINC1:NM_000488:exon5:c.A981G:p.V327V	ENST00000367698.3	.	1q25.1	.	.	.	.	.	rs5877	.	.	0.642857	0.619	0.545327	0.4836	0.4079	0.6744	0.604900295559	0.633413454327	.	.	.	.	.	.	.	.	0.261	1.866	.	3.64	AC=28;AN=40;BQB=0.902561;DP4=310,148,819,372;DP=2346;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.240506;SF=0,1,2,4,5,6,7,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.693139;VDB=0.0612224	GT:DP:DV:PL	0/1:79:36:255,0,255	1/1:81:81:255,244,0	1/1:77:77:255,232,0	.	0/1:76:35:255,0,255	0/1:119:56:255,0,255	1/1:79:79:255,238,0	0/1:85:48:255,0,255	.	.	.	0/1:59:30:255,0,255	0/1:75:37:255,0,255	0/1:93:57:255,0,255	1/1:104:104:255,255,0	0/1:85:47:255,0,255	1/1:90:90:255,255,0	1/1:81:81:255,244,0	0/1:80:44:255,0,255	0/1:79:38:255,0,255	0/1:77:38:255,0,255	1/1:104:104:255,255,0	0/1:40:23:255,0,255	1/1:86:86:255,255,0	.	T	C	8	12	Thrombophilia due to antithrombin III deficiency, 613118 (3)	.	Antithrombin deficiency(CD930906)	TGGCC^326AAGGTaGAGAAGGAAC|c.981delA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8217824&dopt=Abstract)	8217824|14347873|14260761|12591924|12588861|12399451|11713457|10489375|10361121|9845533|9157604|8813337|8664906|8476848|8443391|8236149|7989582|7981186|7937056|7470393|7426446|7423287|7423286|7404484|7404482|7245036|7238875|7218490|7179213|7156320|7141309|7082587|7066204|6977539|6877092|6871478|6871107|6846404|6672771|6636045|6621648|6582486|6572945|6421671|6398051|6304514|6298709|6208738|6204398|6184096|6160891|6086493|4454033|4012220|3979120|3965464|3960724|3940555|3875633|3828226|3805013|3775688|3715788|3663935|3663509|3663508|3605071|3580302|3567355|3563974|3561706|3512602|3472589|3424283|3413737|3363529|3360140|3350974|3348205|3238659|3238650|3191114|3187951|3187949|3179438|3169232|3162733|3162535|3141397|3080419|3080043|3055413|2993911|2983542|2950042|2917133|2794060|2781509|2771663|2722864|2615648|2604796|2602168|2372510|2365352|2365065|2349545|2336381|2229057|2093312|2012760|1998601|1977621|1932746|1906811|1873224|1868237|1808766|1555650|1551681|1547341|1536946|1483709|1483705|1421387|1325679|1154312|1138628|952292|841273|752496|630261|581001|524322|65891	.	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_GLYPICAN_1PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	1	182551337	rs627928	A	C	223.85	PASS	RNASEL	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	exonic	NM_021133	.	missense SNV	RNASEL:NM_021133:exon4:c.T1623G:p.D541E	ENST00000367559.3,ENST00000539397.1,ENST00000444138.1	.	1q25.3	.	.	.	.	.	rs627928	.	.	0.724252	0.7093	0.479832	0.4722	0.5380	0.7216	0.683001157734	0.713942084135	1.0,T	0.0,B	0.0,B	1,P	0.472757,N	-0.405,N	2.06,T	3.9872	-1.577	-2.581	.	.	AC=30;AN=40;BQB=0.665118;DP4=149,46,406,117;DP=996;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.607648;SF=0,1,2,4,5,6,7,8,9,10,11,13,15,17,18,19,20,21,23,24;SGB=-0.693146;VDB=0.245683	GT:DP:DV:PL	1/1:42:42:255,126,0	1/1:32:32:255,96,0	1/1:26:26:255,78,0	.	0/1:36:19:255,0,255	0/1:31:17:255,0,255	1/1:37:37:255,111,0	1/1:36:36:255,108,0	0/1:30:12:252,0,255	1/1:31:31:255,93,0	0/1:42:19:255,0,255	0/1:32:15:255,0,255	.	1/1:33:33:255,99,0	.	0/1:41:21:255,0,255	.	0/1:33:16:255,0,255	0/1:40:16:235,0,255	1/1:24:24:255,72,0	1/1:40:40:255,120,0	0/1:51:24:255,0,255	.	1/1:33:33:255,99,0	0/1:48:30:255,0,255	A	C	10	10	Prostate cancer 1, 601518 (3)	.	Prostate cancer, association with(CM034674)	GAT-GAG|Asp541Glu|c.1623T>G|p.D541E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12915880&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22083266&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17020975&dopt=Abstract)	12915880|22083266|17020975|24578532|19923450|17653195|16609730|12415269|11941539|11799394|9351818|7688298|7539425|7514564	.	.	RNA_BINDING	.	.	.	REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	182554557	rs486907	C	T	222.86	PASS	RNASEL	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	exonic	NM_021133	.	missense SNV	RNASEL:NM_021133:exon2:c.G1385A:p.R462Q	ENST00000367559.3,ENST00000539397.1,ENST00000444138.1	.	1q25.3	.	.	.	.	.	rs486907	CLINSIG=other;CLNDBN=Prostate_cancer\x2c_susceptibility_to;CLNACC=RCV000013880.3;CLNDSDB=.;CLNDSDBID=.	.	0.239203	0.2421	0.230631	0.2808	0.3089	0.2291	0.226646356815	0.237981125	0.03,D	0.864,P	0.998,D	1,P	0.156039,N	2.34,M	2.07,T	0.4865	0.102	0.217	3.360949,22.9	.	AC=8;AN=14;BQB=0.478162;DP4=92,52,109,65;DP=431;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.618611;SF=1,5,6,11,18,20,23;SGB=-0.689466;VDB=0.345082	GT:DP:DV:PL	.	0/1:40:16:255,0,255	.	.	.	0/1:42:20:255,0,255	0/1:43:21:255,0,255	.	.	.	.	0/1:53:20:255,0,255	.	.	.	.	.	.	0/1:51:25:255,0,255	.	1/1:46:46:255,138,0	.	.	0/1:43:26:255,0,255	.	C	T	1	6	Prostate cancer 1, 601518 (3)	.	Prostate cancer, association with(CM020962)	CGA-CAA|Arg462Gln|c.1385G>A|p.R462Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11941539&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20564318&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22083266&dopt=Abstract)	11941539|20564318|22083266|24578532|19923450|17653195|16609730|12415269|11941539|11799394|9351818|7688298|7539425|7514564	.	.	RNA_BINDING	.	.	.	REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	186946912	rs2307198	G	A	225.2	PASS	PLA2G4A	phospholipase A2, group IVA (cytosolic, calcium-dependent)	exonic	NM_001311193,NM_024420	.	missense SNV	PLA2G4A:NM_001311193:exon14:c.G1772A:p.R591K,PLA2G4A:NM_024420:exon16:c.G1952A:p.R651K	ENST00000442353.2,ENST00000367466.3	.	1q31.1	.	.	.	.	.	rs2307198	.	.	0.998339	0.998	0.988219	0.9856	0.9804	0.9997	0.998339	0.998798170673	1.0,T	0.0,B	0.0,B	0.977726,P	0.000000,N	-2.66,N	2.94,T	11.5117	1.089	7.053	1.771699,14.82	5.98	AC=50;AN=50;DP4=0,0,203,349;DP=740;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692914;VDB=0.00316979	GT:DP:DV:PL	1/1:25:25:255,75,0	1/1:32:32:255,96,0	1/1:15:15:255,45,0	1/1:24:24:255,72,0	1/1:20:20:255,60,0	1/1:22:22:255,66,0	1/1:32:32:255,96,0	1/1:21:21:255,63,0	1/1:16:16:255,48,0	1/1:19:19:255,57,0	1/1:37:37:255,111,0	1/1:23:23:255,69,0	1/1:8:8:221,24,0	1/1:22:22:255,66,0	1/1:22:22:255,66,0	1/1:20:20:255,60,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:15:15:255,45,0	1/1:28:28:255,84,0	1/1:7:7:219,21,0	1/1:33:33:255,99,0	1/1:26:26:255,78,0	G	A	25	0	Phospholipase A2, group IV A, deficiency of (3)	.	Increased enzyme activity(CM110727)	AAG-AGG|Lys651Arg|c.1952A>G|p.K651R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21247147&dopt=Abstract)	21247147|18451993|16498630|14702420|12808451|12743172|12045263|11416127|10319815|8175726|8083230|7782073|2777750|1869522	.	.	.	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_ETHER_LIPID_METABOLISM;KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM;KEGG_ALPHA_LINOLENIC_ACID_METABOLISM;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_LONG_TERM_DEPRESSION;KEGG_GNRH_SIGNALING_PATHWAY	PID_FCER1PATHWAY;PID_ENDOTHELINPATHWAY;PID_PDGFRBPATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY	BIOCARTA_SPPA_PATHWAY;BIOCARTA_FCER1_PATHWAY;BIOCARTA_P38MAPK_PATHWAY	REACTOME_ACYL_CHAIN_REMODELLING_OF_PI;REACTOME_ACYL_CHAIN_REMODELLING_OF_PC;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PA;REACTOME_ACYL_CHAIN_REMODELLING_OF_PG;REACTOME_ACYL_CHAIN_REMODELLING_OF_PE;REACTOME_ACYL_CHAIN_REMODELLING_OF_PS;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_SIGNALING_BY_GPCR;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	1	196642233	rs800292	G	A	222.29	PASS	CFH	complement factor H	exonic	NM_000186,NM_001014975	.	missense SNV	CFH:NM_000186:exon2:c.G184A:p.V62I,CFH:NM_001014975:exon2:c.G184A:p.V62I	ENST00000359637.2,ENST00000496761.1,ENST00000439155.2,ENST00000367429.4	.	1q31.3	.	.	.	.	.	rs800292	CLINSIG=other|not provided;CLNDBN=Age-related_macular_degeneration_4|not_provided;CLNACC=RCV000018017.3|RCV000190297.1;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C1853147:610698|CN221809	Circulating myeloperoxidase levels (serum)	0.428571	0.4067	0.468051	0.3866	0.3210	0.4190	0.425726969372	0.438701504808	1.0,T	0.0,B	0.0,B	1,P	.	-2.885,N	-0.09,T	7.8147	0.801	1.735	.	5.12	AC=16;AN=28;BQB=0.833152;DP4=107,82,151,102;DP=638;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.71007;SF=0,3,5,6,10,11,12,13,17,18,19,20,21,24;SGB=-0.692717;VDB=0.00377602	GT:DP:DV:PL	0/1:41:23:255,0,255	.	.	0/1:33:16:255,0,255	.	0/1:37:22:255,0,255	0/1:28:14:255,0,255	.	.	.	0/1:33:11:250,0,255	1/1:36:36:255,108,0	0/1:18:12:255,0,180	0/1:26:14:255,0,255	.	.	.	0/1:23:15:255,0,200	0/1:40:19:255,0,255	0/1:24:12:255,0,255	1/1:29:29:255,87,0	0/1:36:19:255,0,255	.	.	0/1:38:11:255,0,255	G	A	2	12	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3)	23620142(5E-41)	Membranoproliferative glomerulonephritis, association(CM062505)	ATA-GTA|Ile62Val|c.184A>G|p.I62V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16299065&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21106043&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22509112&dopt=Abstract)	16299065|21106043|22509112|25880396|25290405|24906858|24036949|23661701|22019782|21979047|21930971|21909106|21670343|20694013|20660596|19259132|19225461|18801740|18268093|18252712|18252232|17921253|17709513|17472578|17398321|17396242|17360715|17293598|17241667|17210858|17198853|17079491|17018561|16936733|16936732|16816528|16787919|16769899|16710702|16630992|16612335|16601698|16299065|16281287|16229850|15895326|15870199|15761122|15761121|15761120|15562282|14978182|14583443|12960213|12697737|12466119|12424708|12391176|12091909|11644971|11170896|11170895|10975323|10803850|10762557|10577907|10408366|10380701|10206995|9848786|9811382|9551389|9312129|7883953|7742208|6230396|3782802|3157763|2977721|2968949|2966809|2963625|2952588|2950269|2937845|2529127|2527799|2450163|2445583|2143748|2142120|1828229|1826264|646435	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	196654324	rs1061147	A	C	227.04	PASS	CFH	complement factor H	exonic	NM_000186,NM_001014975	.	synonymous SNV	CFH:NM_000186:exon7:c.A921C:p.A307A,CFH:NM_001014975:exon7:c.A921C:p.A307A	ENST00000359637.2,ENST00000439155.2,ENST00000367429.4	.	1q31.3	.	.	.	.	.	rs1061147	.	Age-related macular degeneration	0.953488	0.9504	0.713059	0.6081	0.6666	0.9510	0.940275332312	0.955528697115	.	.	.	.	.	.	.	.	0.261	-0.087	.	.	AC=46;AN=50;BQB=0.340233;DP4=76,21,697,361;DP=1650;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.424651;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0903574	GT:DP:DV:PL	1/1:55:55:255,166,0	0/1:47:24:255,0,255	1/1:43:43:255,129,0	1/1:50:50:255,151,0	1/1:66:66:255,199,0	1/1:44:44:255,132,0	1/1:52:52:255,157,0	0/1:33:18:255,0,255	1/1:63:63:255,190,0	1/1:42:42:255,126,0	1/1:46:46:255,138,0	1/1:45:45:255,135,0	1/1:32:32:255,96,0	1/1:36:36:255,108,0	1/1:31:31:255,93,0	0/1:51:22:255,0,255	1/1:60:60:255,181,0	1/1:31:31:255,93,0	1/1:59:59:255,178,0	1/1:45:45:255,135,0	1/1:45:45:255,135,0	1/1:57:57:255,172,0	1/1:11:11:255,33,0	0/1:54:24:255,0,255	1/1:57:57:255,172,0	A	C	21	4	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3)	23326517(7E-32)	Macular degeneration, age-related, association with(CM057396)	GCC-GCA|Ala307Ala|c.921C>A|p.A307A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15870199&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18421087&dopt=Abstract)	15870199|18421087|25880396|25290405|24906858|24036949|23661701|22019782|21979047|21930971|21909106|21670343|20694013|20660596|19259132|19225461|18801740|18268093|18252712|18252232|17921253|17709513|17472578|17398321|17396242|17360715|17293598|17241667|17210858|17198853|17079491|17018561|16936733|16936732|16816528|16787919|16769899|16710702|16630992|16612335|16601698|16299065|16281287|16229850|15895326|15870199|15761122|15761121|15761120|15562282|14978182|14583443|12960213|12697737|12466119|12424708|12391176|12091909|11644971|11170896|11170895|10975323|10803850|10762557|10577907|10408366|10380701|10206995|9848786|9811382|9551389|9312129|7883953|7742208|6230396|3782802|3157763|2977721|2968949|2966809|2963625|2952588|2950269|2937845|2529127|2527799|2450163|2445583|2143748|2142120|1828229|1826264|646435	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	196659237	rs1061170	C	T	222.32	PASS	CFH	complement factor H	exonic	NM_000186,NM_001014975	.	missense SNV	CFH:NM_000186:exon9:c.C1204T:p.H402Y,CFH:NM_001014975:exon9:c.C1204T:p.H402Y	ENST00000359637.2,ENST00000439155.2,ENST00000367429.4	.	1q31.3	.	.	.	Score=0.914044;Name=chr1:196748278	.	rs1061170	CLINSIG=other|Pathogenic;CLNDBN=Age-related_macular_degeneration_4|Basal_laminar_drusen;CLNACC=RCV000018015.4|RCV000018016.30;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1853147:610698|C0730295:126700:312926005	Age-related macular degeneration (CNV),Age-related macular degeneration,Age-related macular degeneration (GA)	0.95515	0.9514	0.733427	0.6243	0.6721	0.9506	0.936447641654	0.95673125	1.0,T	0.001,B	0.0,B	1,P	.	.	-0.03,T	2.0714	-4.010	-6.716	.	.	AC=46;AN=50;BQB=0.883005;DP4=32,4,372,75;DP=627;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.32634;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692562;VDB=0.587906	GT:DP:DV:PL	1/1:22:22:255,66,0	0/1:30:16:255,0,255	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:17:17:255,51,0	1/1:17:17:255,51,0	1/1:17:17:255,51,0	0/1:21:12:239,0,199	1/1:28:28:255,84,0	1/1:18:18:255,54,0	1/1:21:21:255,63,0	1/1:23:23:255,69,0	1/1:16:16:255,48,0	1/1:14:14:255,42,0	1/1:20:20:255,60,0	0/1:14:9:211,0,140	1/1:19:19:255,57,0	1/1:17:17:255,51,0	1/1:14:14:255,42,0	1/1:16:16:255,48,0	1/1:28:28:255,84,0	1/1:27:27:255,81,0	1/1:11:11:255,33,0	0/1:15:7:197,0,205	1/1:25:25:255,75,0	C	T	21	4	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3)	22705344(5E-67);22705344(1E-108);21665990(1E-261);20385826(4E-117)	Macular degeneration, age-related, association with(CM051020)	TAT-CAT|Tyr402His|c.1204T>C|p.Y402H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15761120&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21784901&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22277662&dopt=Abstract)	15761120|21784901|22277662|25880396|25290405|24906858|24036949|23661701|22019782|21979047|21930971|21909106|21670343|20694013|20660596|19259132|19225461|18801740|18268093|18252712|18252232|17921253|17709513|17472578|17398321|17396242|17360715|17293598|17241667|17210858|17198853|17079491|17018561|16936733|16936732|16816528|16787919|16769899|16710702|16630992|16612335|16601698|16299065|16281287|16229850|15895326|15870199|15761122|15761121|15761120|15562282|14978182|14583443|12960213|12697737|12466119|12424708|12391176|12091909|11644971|11170896|11170895|10975323|10803850|10762557|10577907|10408366|10380701|10206995|9848786|9811382|9551389|9312129|7883953|7742208|6230396|3782802|3157763|2977721|2968949|2966809|2963625|2952588|2950269|2937845|2529127|2527799|2450163|2445583|2143748|2142120|1828229|1826264|646435	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	196682947	rs2274700	G	A	156.23	PASS	CFH	complement factor H	exonic	NM_000186	.	synonymous SNV	CFH:NM_000186:exon10:c.G1419A:p.A473A	ENST00000367429.4	.	1q31.3	.	.	.	Score=0.915836;Name=chr1:196851898	.	rs2274700	CLINSIG=other;CLNDBN=Age-related_macular_degeneration_4;CLNACC=RCV000018023.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1853147:610698	.	0.433555	0.4246	0.479034	0.4262	0.4431	0.4359	0.437212996937	0.449519266827	.	.	.	.	.	.	.	.	-0.577	0.476	.	.	AC=17;AN=28;BQB=0.924584;DP4=68,16,98,13;DP=268;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;MQSB=1;RPB=0.346719;SF=0,3,5,6,10,11,12,13,17,18,19,20,21,24;SGB=-0.511536;VDB=0.617121	GT:DP:DV:PL	0/1:9:3:92,0,186	.	.	0/1:15:7:126,0,218	.	0/1:11:6:162,0,153	0/1:20:8:188,0,255	.	.	.	0/1:14:6:175,0,255	1/1:17:17:255,51,0	0/1:11:2:64,0,205	0/1:12:6:177,0,183	.	.	.	1/1:9:9:216,27,0	0/1:17:8:178,0,214	0/1:15:9:255,0,184	1/1:10:10:255,30,0	0/1:14:9:249,0,137	.	.	0/1:21:11:243,0,248	G	A	3	11	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3)	.	Membranoproliferative glomerulonephritis, association(CM062504)	GCG-GCA|Ala473Ala|c.1419G>A|p.A473A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16299065&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22848687&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21868097&dopt=Abstract)	16299065|22848687|21868097|25880396|25290405|24906858|24036949|23661701|22019782|21979047|21930971|21909106|21670343|20694013|20660596|19259132|19225461|18801740|18268093|18252712|18252232|17921253|17709513|17472578|17398321|17396242|17360715|17293598|17241667|17210858|17198853|17079491|17018561|16936733|16936732|16816528|16787919|16769899|16710702|16630992|16612335|16601698|16299065|16281287|16229850|15895326|15870199|15761122|15761121|15761120|15562282|14978182|14583443|12960213|12697737|12466119|12424708|12391176|12091909|11644971|11170896|11170895|10975323|10803850|10762557|10577907|10408366|10380701|10206995|9848786|9811382|9551389|9312129|7883953|7742208|6230396|3782802|3157763|2977721|2968949|2966809|2963625|2952588|2950269|2937845|2529127|2527799|2450163|2445583|2143748|2142120|1828229|1826264|646435	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	197031021	rs6003	C	T	225.08	PASS	F13B	coagulation factor XIII, B polypeptide	exonic	NM_001994	.	missense SNV	F13B:NM_001994:exon3:c.G344A:p.R115H	ENST00000367412.1	.	1q31.3	.	.	Score=775;Name=V$PAX5_02	.	.	rs6003	CLINSIG=other;CLNDBN=Venous_thrombosis\x2c_susceptibility_to;CLNACC=RCV000017984.2;CLNDSDB=MedGen;CLNDSDBID=CN068878	.	0.98505	0.9831	0.761781	0.7385	0.8720	0.9837	0.983920689127	0.985577175481	0.38,T	0.002,B	0.0,B	1,P	0.781097,N	0.79,N	-0.18,T	4.8681	-0.151	-0.455	.	.	AC=50;AN=50;DP4=0,0,243,176;DP=603;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69168;VDB=0.0243291	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:15:15:255,45,0	1/1:17:17:255,51,0	1/1:24:24:255,72,0	1/1:21:21:255,63,0	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:12:12:255,36,0	1/1:19:19:255,57,0	1/1:12:12:255,36,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:9:9:255,27,0	1/1:14:14:255,42,0	1/1:14:14:255,42,0	1/1:19:19:255,57,0	1/1:32:32:255,96,0	1/1:9:9:255,27,0	1/1:17:17:255,51,0	1/1:12:12:255,36,0	1/1:5:5:183,15,0	1/1:19:19:255,57,0	1/1:15:15:255,45,0	1/1:24:24:255,72,0	1/1:19:19:255,57,0	C	T	25	0	Factor XIIIB deficiency, 613235 (3)	.	Myocardial infarction, risk, association with(CM034655)	CAT-CGT|His115Arg|c.344A>G|p.H115R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12941053&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16241947&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25384012&dopt=Abstract)	12941053|16241947|25384012|16241947|12456499|11313256|8639893|8468048|8324218|7386462|7125593|6949857|6380396|3856494|3471677|3467588|3182017|3021194|2977721|2877456|2563250|2339067|2334637	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	1	203194186	rs2297950	C	T	200.73	PASS	CHIT1	chitinase 1 (chitotriosidase)	exonic	NM_001270509,NM_003465	.	missense SNV	CHIT1:NM_001270509:exon4:c.G304A:p.G102S,CHIT1:NM_003465:exon4:c.G304A:p.G102S	ENST00000484834.1,ENST00000367229.1,ENST00000535569.1,ENST00000255427.3	.	1q32.1	.	.	.	.	.	rs2297950	CLINSIG=other;CLNDBN=Chitotriosidase_deficiency;CLNACC=RCV000010134.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3279902:614122	.	0.255814	0.2847	0.290935	0.2853	0.3023	0.2806	0.260337173047	0.262019300481	0.002,D	0.999,D	1.0,D	3.73909e-19,P	0.000249,D	1.815,L	3.81,T	7.7551	0.319	4.997	6.552724,31	2.59	AC=11;AN=22;BQB=0.917648;DP4=160,42,119,25;DP=484;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.360729;SF=0,2,3,5,11,14,18,20,21,22,24;SGB=-0.688148;VDB=0.607298	GT:DP:DV:PL	0/1:28:15:255,0,255	.	0/1:33:14:255,0,255	0/1:27:8:202,0,255	.	0/1:43:16:255,0,255	.	.	.	.	.	0/1:19:7:155,0,255	.	.	0/1:45:21:255,0,255	.	.	.	0/1:28:10:208,0,255	.	0/1:26:13:255,0,255	0/1:40:13:234,0,255	0/1:19:9:244,0,255	.	0/1:38:18:255,0,255	C	T	0	11	[Chitotriosidase deficiency], 614122 (3)	.	Colorectal cancer, increased risk, association with(CM065066)	GGC-AGC|Gly102Ser|c.304G>A|p.G102S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17000706&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19725875&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24060732&dopt=Abstract)	17000706|19725875|24060732|21674664|17464953|9748235|9402970|8132768|7836450|7592832	AMINO_SUGAR_METABOLIC_PROCESS;BIOPOLYMER_CATABOLIC_PROCESS;MULTI_ORGANISM_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;N_ACETYLGLUCOSAMINE_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;RESPONSE_TO_BACTERIUM;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;POLYSACCHARIDE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;CATABOLIC_PROCESS;CARBOHYDRATE_CATABOLIC_PROCESS;GLUCOSAMINE_METABOLIC_PROCESS;CELLULAR_POLYSACCHARIDE_METABOLIC_PROCESS	.	CARBOHYDRATE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS;POLYSACCHARIDE_BINDING;PATTERN_BINDING	KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	.	.	PS1,PS3,BA1
L	1	207753621	rs2274567	A	G	216.53	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon22:c.A3623G:p.H1208R,CR1:NM_000651:exon30:c.A4973G:p.H1658R	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1,ENST00000596003.1,ENST00000597497.1	.	1q32.2	.	.	.	Score=0.914832;Name=chr1:207867693	.	rs2274567	.	.	0.355482	0.3274	0.294329	0.1961	0.2510	0.2821	0.355482	0.316105834135	0.149,T	0.984,D	0.995,D	1,P	.	1.245,L	-0.03,T	1.2006	0.164	0.814	.	.	AC=19;AN=34;BQB=0.999485;DP4=181,106,232,118;DP=815;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.352582;SF=3,5,8,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.692352;VDB=0.64487	GT:DP:DV:PL	.	.	.	0/1:36:21:255,0,255	.	1/1:51:51:255,154,0	.	.	0/1:43:17:255,0,255	.	0/1:31:13:255,0,255	0/1:31:18:255,0,255	0/1:26:10:200,0,255	1/1:27:27:255,81,0	0/1:29:14:255,0,255	0/1:31:18:255,0,255	0/1:41:15:255,0,255	0/1:43:20:255,0,255	0/1:40:20:255,0,255	0/1:42:20:255,0,255	0/1:39:21:255,0,255	0/1:60:32:255,0,255	0/1:17:8:205,0,166	.	0/1:50:25:255,0,255	A	G	2	15	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	Erythrocyte sedimentation rate, association with(CM1111731)	CAT-CGT|His1658Arg|c.4973A>G|p.H1658R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21700265&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14694201&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23152904&dopt=Abstract)	21700265|14694201|23152904|20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	207782916	rs4844609	A	T	228	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon29:c.A4828T:p.T1610S,CR1:NM_000651:exon37:c.A6178T:p.T2060S	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1	.	1q32.2	.	.	.	.	.	rs4844609	.	.	1	1	0.995008	0.9815	0.9853	1	0.992342787136	0.997596057692	0.804,T	0.005,B	0.003,B	1,P	.	.	-0.01,T	4.9244	0.394	-0.535	.	2.54	AC=50;AN=50;DP4=0,0,471,331;DP=1066;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.153059	GT:DP:DV:PL	1/1:45:45:255,135,0	1/1:34:34:255,102,0	1/1:36:36:255,108,0	1/1:31:31:255,93,0	1/1:37:37:255,111,0	1/1:32:32:255,96,0	1/1:30:30:255,90,0	1/1:38:38:255,114,0	1/1:33:33:255,99,0	1/1:23:23:255,69,0	1/1:29:29:255,87,0	1/1:32:32:255,96,0	1/1:19:19:255,57,0	1/1:28:28:255,84,0	1/1:34:34:255,102,0	1/1:33:33:255,99,0	1/1:38:38:255,114,0	1/1:22:22:255,66,0	1/1:30:30:255,90,0	1/1:32:32:255,96,0	1/1:41:41:255,123,0	1/1:35:35:255,105,0	1/1:14:14:255,42,0	1/1:37:37:255,111,0	1/1:39:39:255,117,0	A	T	25	0	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	Knops blood group variation(CM024383)	TCC-ACC|Ser2060Thr|c.6178T>A|p.S2060T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11896343&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22343410&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23582656&dopt=Abstract)	11896343|22343410|23582656|20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	207782931	rs6691117	A	G	213.63	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon29:c.A4843G:p.I1615V,CR1:NM_000651:exon37:c.A6193G:p.I2065V	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1	.	1q32.2	.	.	.	.	.	rs6691117	.	.	0.370432	0.3433	0.493411	0.3843	0.3341	0.3014	0.274119301685	0.324519355769	1.0,T	0.005,B	0.001,B	1,P	.	-1.975,N	0.17,T	5.5311	0.637	2.672	.	2.54	AC=18;AN=32;BQB=0.869082;DP4=116,81,129,105;DP=592;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.598381;SF=3,5,8,10,11,12,13,14,15,17,18,19,20,21,22,24;SGB=-0.683931;VDB=0.0269703	GT:DP:DV:PL	.	.	.	0/1:28:13:255,0,255	.	0/1:32:16:255,0,255	.	.	0/1:30:16:255,0,255	.	0/1:23:12:255,0,255	1/1:27:27:255,81,0	0/1:17:10:222,0,197	1/1:23:23:255,69,0	0/1:26:13:255,0,255	0/1:29:13:255,0,255	.	0/1:21:11:255,0,255	0/1:28:13:255,0,255	0/1:29:14:255,0,255	0/1:40:17:255,0,255	0/1:31:15:255,0,255	0/1:12:5:142,0,218	.	0/1:35:16:255,0,255	A	G	2	14	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	Erythrocyte sedimentation rate, association with(CM115653)	ATC-GTC|Ile2065Val|c.6193A>G|p.I2065V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21700265&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24018213&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23591632&dopt=Abstract)	21700265|24018213|23591632|20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	207790088	rs3811381	C	G	222.38	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon33:c.C5480G:p.P1827R,CR1:NM_000651:exon41:c.C6830G:p.P2277R	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1	.	1q32.2	.	.	.	Score=0.910833;Name=chr1:207885805	.	rs3811381	.	.	0.347176	0.3224	0.26278	0.1647	0.2403	0.2780	0.2465541317	0.306490326923	0.394,T	0.142,B	0.643,P	1,P	.	0.17,N	2.0,T	3.1972	-1.266	-0.774	.	.	AC=17;AN=32;BQB=0.967512;DP4=443,276,477,240;DP=1969;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.827256;SF=3,5,8,10,11,12,13,14,15,17,18,19,20,21,22,24;SGB=-0.693136;VDB=0.579729	GT:DP:DV:PL	.	.	.	0/1:80:35:255,0,255	.	0/1:110:52:255,0,255	.	.	0/1:104:51:255,0,255	.	0/1:80:38:255,0,255	0/1:78:41:255,0,255	0/1:76:39:255,0,255	1/1:101:101:255,255,0	0/1:87:36:255,0,255	0/1:82:37:255,0,255	.	0/1:75:43:255,0,255	0/1:106:43:255,0,255	0/1:82:38:255,0,255	0/1:102:43:255,0,255	0/1:129:53:255,0,255	0/1:40:23:255,0,255	.	0/1:104:44:255,0,255	C	G	1	15	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	Idiopathic pulmonary fibrosis, association with(CM025385)	CCT-CGT|Pro2277Arg|c.6830C>G|p.P2277R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12091241&dopt=Abstract)	12091241|20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	1	209964080	rs2235371	C	T	223.5	PASS	IRF6	interferon regulatory factor 6	exonic	NM_001206696,NM_006147	.	missense SNV	IRF6:NM_001206696:exon5:c.G535A:p.V179I,IRF6:NM_006147:exon7:c.G820A:p.V274I	ENST00000367021.3,ENST00000542854.1	.	1q32.2	.	.	Score=822;Name=V$ER_Q6	.	.	rs2235371	.	Nonsyndromic cleft lip with or without cleft palate	0.436877	0.4296	0.132588	0.0118	0.0766	0.4174	0.388208283308	0.424278694712	0.004,D	0.802,P	0.984,D	1.69821e-06,P	0.000001,D	1.31,L	-3.59,D	20.8794	2.941	5.757	4.835122,24.8	6.17	AC=21;AN=32;BQB=0.766494;DP4=146,131,229,197;DP=930;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.895011;SF=0,1,3,5,6,7,8,9,10,12,13,14,16,17,19,20;SGB=-0.69168;VDB=0.145838	GT:DP:DV:PL	0/1:37:19:255,0,255	0/1:45:18:255,0,255	.	0/1:38:12:255,0,255	.	0/1:80:36:255,0,255	0/1:44:27:255,0,255	0/1:45:23:255,0,255	1/1:35:35:255,105,0	0/1:34:18:255,0,255	0/1:44:13:250,0,255	.	1/1:38:38:255,114,0	1/1:49:49:255,148,0	1/1:49:49:255,148,0	.	0/1:39:21:255,0,255	1/1:26:26:255,78,0	.	0/1:50:20:255,0,255	0/1:50:22:255,0,255	.	.	.	.	C	T	5	11	van der Woude syndrome, 119300 (3); Popliteal pterygium syndrome 1, 119500 (3); Orofacial cleft 6, 608864 (3)	.	Cleft lip/palate, association with(CM052248)	GTC-ATC|Val274Ile|c.820G>A|p.V274I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15317890&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19419265&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20121942&dopt=Abstract)	15317890|19419265|20121942|24442519|20803643|20184620|19842205|19439425|19036739|18836445|18478600|17041603|17041601|15939375|15317890|14757865|14618417|12920575|12219090	.	.	.	.	.	.	REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	1	216051125	rs41277200	G	A	222.55	PASS	USH2A	Usher syndrome 2A (autosomal recessive, mild)	exonic	NM_206933	.	missense SNV	USH2A:NM_206933:exon43:c.C8656T:p.L2886F	ENST00000366943.2,ENST00000307340.3	.	1q41	.	.	.	.	.	rs41277200	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000041933.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.136213	0.1458	0.0776757	0.0464	0.0520	0.1600	0.117917624809	0.128606137019	1.0,T	0.0,B	0.0,B	0.993101,P	0.000293,N	-2.045,N	0.45,T	12.1311	1.063	6.927	1.478803,13.20	5.9	AC=12;AN=22;BQB=0.980869;DP4=212,49,237,44;DP=713;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982553;SF=2,3,6,11,13,15,17,18,19,20,21;SGB=-0.692831;VDB=0.409394	GT:DP:DV:PL	.	.	0/1:53:24:255,0,255	0/1:44:17:255,0,255	.	.	0/1:54:32:255,0,255	.	.	.	.	0/1:46:20:255,0,255	.	0/1:42:19:255,0,255	.	1/1:42:42:255,126,0	.	0/1:38:21:255,0,255	0/1:52:28:255,0,255	0/1:48:17:255,0,255	0/1:55:26:255,0,255	0/1:68:35:255,0,255	.	.	.	G	A	1	10	Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa 39, 613809 (3)	.	Hearing loss(CM1413302)	CTT-TTT|Leu2886Phe|c.8656C>T|p.L2886F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25528277&dopt=Abstract)	25528277|25823529|22009552|20507924|20440071|19881469|18826961|18665195|18273898|17405132|17360538|17296898|17085681|16301217|16301216|16098008|15025721|15024643|15015129|14970843|12525556|12427073|12160733|11402400|10909849|10775529|10729113|10090909|9624053	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;PHOTORECEPTOR_CELL_MAINTENANCE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELL_DIFFERENTIATION;SENSORY_PERCEPTION;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;NEUROLOGICAL_SYSTEM_PROCESS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;CYTOPLASM;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	PROTEIN_DOMAIN_SPECIFIC_BINDING;COLLAGEN_BINDING;PDZ_DOMAIN_BINDING	.	.	.	.	PS1,PS3,BA1
L	1	223283910	rs7512943	A	G	228	PASS	TLR5	toll-like receptor 5	exonic	NM_003268	.	missense SNV	TLR5:NM_003268:exon6:c.T2464C:p.F822L	ENST00000540964.1,ENST00000342210.6	.	1q41	.	.	.	.	.	rs7512943	.	.	1	1	1	.	1.0000	1	1.0	1.0	1.0,T	0.0,B	0.0,B	1,P	0.168623,N	-2.48,N	3.09,T	0.5753	0.022	0.484	.	2.58	AC=50;AN=50;DP4=0,0,549,92;DP=829;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693021;VDB=0.247491	GT:DP:DV:PL	1/1:27:27:255,81,0	1/1:20:20:255,60,0	1/1:28:28:255,84,0	1/1:27:27:255,81,0	1/1:23:23:255,69,0	1/1:41:41:255,123,0	1/1:22:22:255,66,0	1/1:27:27:255,81,0	1/1:32:32:255,96,0	1/1:22:22:255,66,0	1/1:31:31:255,93,0	1/1:21:21:255,63,0	1/1:15:15:255,45,0	1/1:25:25:255,75,0	1/1:20:20:255,60,0	1/1:34:34:255,102,0	1/1:26:26:255,78,0	1/1:27:27:255,81,0	1/1:24:24:255,72,0	1/1:27:27:255,81,0	1/1:17:17:255,51,0	1/1:37:37:255,111,0	1/1:21:21:255,63,0	1/1:22:22:255,66,0	1/1:25:25:255,75,0	A	G	25	0	{Legionaire disease, susceptibility to}, 608556 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2); {Melioidosis, susceptibility to}, 615557 (3)	.	Reduced function(CM068204)	CTC-TTC|Leu822Phe|c.2464C>T|p.L822F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16470719&dopt=Abstract)	16470719|25395539|23447684|22344444|20203013|19150884|18403709|18008007|17404249|17283206|16891416|16027372|14625549|14623910|11561001|11323673|10820283|9596645|9435236	.	.	.	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PS1,PS3,BA1
L	1	223284599	rs2072493	T	C	206.17	PASS	TLR5	toll-like receptor 5	exonic	NM_003268	.	missense SNV	TLR5:NM_003268:exon6:c.A1775G:p.N592S	ENST00000540964.1,ENST00000342210.6	.	1q41	.	.	.	.	.	rs2072493	CLINSIG=other;CLNDBN=Legionellosis;CLNACC=RCV000007039.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837872:608556	.	0.252492	0.2728	0.140176	0.1166	0.1487	0.2466	0.228943577335	0.26442325	0.731,T	0.0,B	0.0,B	1,P	0.001067,N	0.12,N	1.91,T	0.5765	-1.542	-2.960	.	.	AC=6;AN=12;BQB=1;DP4=43,33,48,30;DP=193;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=1,6,13,17,18,20;SGB=-0.670168;VDB=0.933405	GT:DP:DV:PL	.	0/1:22:10:253,0,255	.	.	.	.	0/1:27:12:255,0,255	.	.	.	.	.	.	0/1:22:10:190,0,255	.	.	.	0/1:17:8:228,0,239	0/1:29:21:255,0,130	.	0/1:37:17:255,0,255	.	.	.	.	T	C	0	6	{Legionaire disease, susceptibility to}, 608556 (3); {Systemic lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2); {Melioidosis, susceptibility to}, 615557 (3)	.	Legionnaires disease, association with(CM036006)	AAT-AGT|Asn592Ser|c.1775A>G|p.N592S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14623910&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24154872&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21071776&dopt=Abstract)	14623910|24154872|21071776|25395539|23447684|22344444|20203013|19150884|18403709|18008007|17404249|17283206|16891416|16027372|14625549|14623910|11561001|11323673|10820283|9596645|9435236	.	.	.	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PS1,PS3,BA1
L	1	226026406	rs2234922	A	G	222	PASS	EPHX1	epoxide hydrolase 1, microsomal (xenobiotic)	exonic	NM_000120,NM_001136018,NM_001291163	.	missense SNV	EPHX1:NM_000120:exon4:c.A416G:p.H139R,EPHX1:NM_001136018:exon4:c.A416G:p.H139R,EPHX1:NM_001291163:exon4:c.A416G:p.H139R	ENST00000366837.4,ENST00000272167.5	.	1q42.12	.	.	.	.	.	rs2234922	CLINSIG=Benign;CLNDBN=EPOXIDE_HYDROLASE_POLYMORPHISM;CLNACC=RCV000018079.2;CLNDSDB=.;CLNDSDBID=.	.	0.106312	0.1181	0.215455	0.2497	0.1963	0.1284	0.125573892802	0.109374704327	0.973,T	0.0,B	0.0,B	1,P	0.076624,N	0,N	3.9,T	7.654	0.379	0.820	.	2.55	AC=5;AN=10;BQB=0.687966;DP4=138,21,127,20;DP=405;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.571943;SF=1,4,15,20,24;SGB=-0.693097;VDB=0.662156	GT:DP:DV:PL	.	0/1:60:30:255,0,255	.	.	0/1:48:29:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:56:22:255,0,255	.	.	.	.	0/1:67:33:255,0,255	.	.	.	0/1:75:33:255,0,255	A	G	0	5	?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1); Hypercholanemia, familial, 607748 (3); {Preeclampsia, susceptibility to}, 189800 (3)	.	Preeclampsia, association with(CM024366)	CAT-CGT|His139Arg|c.416A>G|p.H139R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12173035&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19307236&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19952982&dopt=Abstract)	12173035|19307236|19952982|14161752|12878321|12173035|12150216|11406608|11283205|10446164|9925921|9288046|8723073|7892276|7835893|7516776|6879646|6790991|5691599|5463537|5414058|3605220|3502697|3502687|3425630|2891713|2864485|2336087|1750433|957016|425962	.	.	.	KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450	.	.	.	PS1,PS3,BA1
L	1	230845794	rs699	A	G	225	PASS	AGT	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	exonic	NM_000029	.	missense SNV	AGT:NM_000029:exon2:c.T803C:p.M268T	ENST00000366667.4	.	1q42.2	.	.	.	.	.	rs699	CLINSIG=other|other|other;CLNDBN=Hypertension\x2c_essential\x2c_susceptibility_to|Preeclampsia\x2c_susceptibility_to|Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy;CLNACC=RCV000019691.3|RCV000019692.3|RCV000019693.3;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C1862886	.	0.845515	0.8532	0.705072	0.5617	0.5484	0.8378	0.825421352221	0.834134699519	0.956,T	0.0,B	0.0,B	1,P	0.877893,N	-1.735,N	-2.16,D	5.2545	-0.242	0.431	.	.	AC=36;AN=48;BQB=0.995486;DP4=401,79,1268,197;DP=2775;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.578414;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.0271831	GT:DP:DV:PL	1/1:87:87:255,255,0	0/1:76:45:255,0,255	1/1:79:79:255,238,0	1/1:74:74:255,223,0	0/1:65:32:255,0,255	1/1:105:105:255,255,0	0/1:81:39:255,0,255	0/1:80:38:255,0,255	1/1:76:76:255,229,0	1/1:64:64:255,193,0	1/1:79:79:255,238,0	1/1:62:62:255,187,0	0/1:79:38:255,0,255	0/1:106:53:255,0,255	1/1:88:88:255,255,0	0/1:62:27:255,0,255	1/1:97:97:255,255,0	0/1:72:38:255,0,255	1/1:59:59:255,178,0	.	0/1:84:35:255,0,255	1/1:125:125:255,255,0	0/1:28:16:255,0,255	0/1:109:60:255,0,255	0/1:108:49:255,0,255	A	G	12	12	{Hypertension, essential, susceptibility to}, 145500 (3); {Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3)	.	Hypertension, association with(CM920010)	ATG-ACG|Met268Thr|c.803T>C|p.M268T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1394429&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20854100&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12404103&dopt=Abstract)	1394429|20854100|12404103|22095942|20978123|20927107|18025526|17047091|17036344|16352906|16293694|16210856|16138193|16116425|16059745|16041383|15652490|15077204|15023884|14216273|13937884|13428291|12915681|12404103|12399452|11904385|11829142|11770813|11731937|11096065|11095476|10738541|10585456|10528248|9894356|9831339|9814470|9421481|9259580|9120024|9120002|9077534|8567057|8518804|8513325|8348146|8252633|8177268|8132767|8112025|8093670|7989296|7955175|7883995|7783537|7649545|7635961|6572971|6089875|4300938|3422543|3034901|2924688|2407641|2286380|1394429	REGULATION_OF_BIOLOGICAL_QUALITY;MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;SIGNAL_TRANSDUCTION;REPRODUCTIVE_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;REGULATION_OF_BLOOD_PRESSURE;SYSTEM_PROCESS;REPRODUCTION	CELL_FRACTION;SOLUBLE_FRACTION	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	KEGG_RENIN_ANGIOTENSIN_SYSTEM	PID_PRLSIGNALINGEVENTSPATHWAY;PID_AP1_PATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_CARDIACEGF_PATHWAY	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PS1,PS3,BA1
L	1	237048500	rs1805087	A	G	210.25	PASS	MTR	5-methyltetrahydrofolate-homocysteine methyltransferase	exonic	NM_000254,NM_001291939,NM_001291940	.	missense SNV	MTR:NM_001291939:exon25:c.A2603G:p.D868G,MTR:NM_001291940:exon25:c.A1535G:p.D512G,MTR:NM_000254:exon26:c.A2756G:p.D919G	ENST00000366577.5,ENST00000535889.1	.	1q43	.	.	.	.	.	rs1805087	CLINSIG=Benign|Uncertain significance;CLNDBN=not_specified|Gastrointestinal_Stromal_Tumors;CLNACC=RCV000126868.2|RCV000144923.1;CLNDSDB=MedGen|MedGen:OMIM:ORPHA;CLNDSDBID=CN169374|C0238198:606764:44890	.	0.0930233	0.1052	0.218251	0.2204	0.2091	0.1132	0.0972433649311	0.100961534375	0.189,T	0.21,B	0.586,P	7.87227e-05,P	0.000017,D	1.495,L	-0.62,T	16.4943	2.291	8.546	3.903964,23.5	5.99	AC=8;AN=16;BQB=0.99735;DP4=23,49,38,61;DP=218;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989441;SF=0,9,12,13,14,15,16,20;SGB=-0.69168;VDB=0.0580173	GT:DP:DV:PL	0/1:33:19:255,0,224	.	.	.	.	.	.	.	.	0/1:21:14:255,0,188	.	.	0/1:12:8:255,0,124	0/1:18:11:255,0,196	0/1:19:10:212,0,251	0/1:16:8:206,0,216	0/1:26:14:255,0,255	.	.	.	0/1:26:15:255,0,246	.	.	.	.	A	G	0	8	Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)	.	Coronary artery disease in smokers, association(CM983303)	GAC-GGC|Asp919Gly|c.2756A>G|p.D919G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9919998&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19843671&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11204591&dopt=Abstract)	9919998|19843671|11204591|19737740|16769880|16712703|15148588|12923861|12375236|12154064|12068375|10323741|9683607|9453374|9321480|9013615|8968737|8968736|8968735|3384945|284356	.	.	.	KEGG_CYSTEINE_AND_METHIONINE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_SULFUR_AMINO_ACID_METABOLISM;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	2	1481155	rs2280132	G	T	208.5	PASS	TPO	thyroid peroxidase	exonic	NM_000547,NM_001206744,NM_001206745,NM_175719,NM_175721	.	missense SNV	TPO:NM_175721:exon7:c.G1117T:p.A373S,TPO:NM_000547:exon8:c.G1117T:p.A373S,TPO:NM_001206744:exon8:c.G1117T:p.A373S,TPO:NM_001206745:exon8:c.G1117T:p.A373S,TPO:NM_175719:exon8:c.G1117T:p.A373S	ENST00000349624.3,ENST00000382201.3,ENST00000382198.1,ENST00000329066.4,ENST00000345913.4,ENST00000337415.3,ENST00000497517.2,ENST00000346956.3	CpG: 95	2p25.3	.	.	.	.	.	rs2280132	.	.	0.526578	0.5228	0.408147	0.4069	0.4578	0.5978	0.483154784074	0.483172963942	0.761,T	0.012,B	0.005,B	1,P	0.078413,N	-0.84,N	-0.16,T	2.1535	-0.259	0.173	.	.	AC=27;AN=40;BQB=0.982757;DP4=86,84,173,138;DP=651;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.447416;SF=1,2,3,4,5,6,7,8,9,10,11,13,16,17,18,20,21,22,23,24;SGB=-0.686358;VDB=0.824022	GT:DP:DV:PL	.	0/1:21:14:255,0,195	1/1:30:30:255,90,0	0/1:16:7:155,0,255	0/1:14:9:216,0,123	0/1:52:25:255,0,255	0/1:15:9:243,0,205	0/1:32:12:255,0,255	0/1:23:13:255,0,255	0/1:16:8:184,0,203	0/1:25:12:255,0,255	1/1:12:12:255,36,0	.	0/1:28:14:255,0,255	.	.	0/1:22:7:215,0,255	1/1:7:7:254,21,0	1/1:20:20:255,60,0	.	0/1:22:9:207,0,255	0/1:43:20:255,0,255	1/1:11:11:255,33,0	1/1:30:30:255,90,0	1/1:42:42:255,126,0	G	T	7	13	Thyroid dyshormonogenesis 2A, 274500 (3)	.	Thyroid dyshormonogenesis(CM146545)	GCG-TCG|Ala373Ser|c.1117G>T|p.A373S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24829575&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24829575&dopt=Abstract)	24829575|18029453|15863666|12843174|12213873|11238503|11061528|10487692|10084596|9814507|9024270|8964831|8027236|7759120|7550241|3654979|3475693|3378456|2548579|1401057	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYROSINE_METABOLISM;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	2	1499927	rs732609	A	C	220.29	PASS	TPO	thyroid peroxidase	exonic	NM_000547,NM_001206744,NM_001206745,NM_175719,NM_175721,NM_175722	.	missense SNV	TPO:NM_175722:exon10:c.A1654C:p.T552P,TPO:NM_001206745:exon11:c.A2002C:p.T668P,TPO:NM_175719:exon11:c.A2002C:p.T668P,TPO:NM_175721:exon11:c.A2173C:p.T725P,TPO:NM_000547:exon12:c.A2173C:p.T725P,TPO:NM_001206744:exon12:c.A2173C:p.T725P	ENST00000349624.3,ENST00000382201.3,ENST00000382198.1,ENST00000329066.4,ENST00000345913.4,ENST00000337415.3,ENST00000497517.2,ENST00000346956.3	.	2p25.3	.	.	.	.	.	rs732609	.	.	0.390365	0.4087	0.498403	0.4703	0.4280	0.4065	0.378254151608	0.397836129808	1.0,T	0.0,B	0.0,B	0.98468,P	0.000016,N	-2.245,N	-0.5,T	11.1959	0.993	3.471	.	4.39	AC=21;AN=34;BQB=0.592004;DP4=303,131,278,103;DP=1135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983353;SF=0,1,3,6,7,8,9,10,12,13,14,15,16,19,20,21,24;SGB=-0.690438;VDB=0.00165029	GT:DP:DV:PL	0/1:48:17:255,0,255	0/1:52:17:255,0,255	.	0/1:44:17:255,0,255	.	.	0/1:45:13:209,0,255	0/1:60:22:255,0,255	0/1:42:15:255,0,255	0/1:47:21:255,0,255	0/1:62:22:255,0,255	.	1/1:30:30:255,90,0	0/1:63:33:255,0,255	1/1:44:44:255,132,0	1/1:20:20:255,60,0	0/1:41:13:255,0,255	.	.	1/1:34:33:255,42,0	0/1:53:17:255,0,255	0/1:64:22:255,0,255	.	.	0/1:66:25:255,0,255	A	C	4	13	Thyroid dyshormonogenesis 2A, 274500 (3)	.	Hypothyroidism, association with(CM141568)	ACT-CCT|Thr725Pro|c.2173A>C|p.T725P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24420335&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24829575&dopt=Abstract)	24420335|24829575|18029453|15863666|12843174|12213873|11238503|11061528|10487692|10084596|9814507|9024270|8964831|8027236|7759120|7550241|3654979|3475693|3378456|2548579|1401057	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYROSINE_METABOLISM;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	2	21225281	rs1042034	C	T	215.54	PASS	APOB	apolipoprotein B	exonic	NM_000384	.	missense SNV	APOB:NM_000384:exon29:c.G13013A:p.S4338N	ENST00000233242.1	.	2p24.1	.	.	.	.	.	rs1042034	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116382.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	Triglycerides,HDL cholesterol	0.282392	0.2798	0.629593	0.8030	0.7057	0.2804	0.27718207657	0.288461567308	1.0,T	0.0,B	0.0,B	1,P	0.669497,N	-2.005,N	1.25,T	5.789	-0.124	0.640	.	.	AC=16;AN=26;BQB=0.391606;DP4=97,91,156,110;DP=564;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.926325;SF=3,4,6,7,10,11,12,13,15,17,18,20,23;SGB=-0.692067;VDB=0.569158	GT:DP:DV:PL	.	.	.	0/1:41:20:255,0,255	0/1:41:18:255,0,255	.	0/1:36:14:255,0,255	1/1:38:38:255,114,0	.	.	0/1:33:15:255,0,255	0/1:39:21:255,0,255	0/1:23:10:240,0,255	0/1:32:14:255,0,255	.	1/1:42:42:255,126,0	.	0/1:17:6:168,0,255	0/1:37:19:255,0,255	.	0/1:43:17:255,0,255	.	.	1/1:32:32:255,96,0	.	C	T	3	10	Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)	20686565(1E-45);20686565(1E-30)	Total cholesterol levels, association with(CM133911)	AGT-AAT|Ser4338Asn|c.13013G>A|p.S4338N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23482652&dopt=Abstract)	23482652|21981844|20686565|20506408|19450445|18354102|17595251|17158591|16030169|15984016|15538359|14691182|14618390|14147429|13971876|13682582|12655413|12124991|12066187|11940084|11781700|11494965|11115503|10952765|9603795|9508071|9486979|9339363|8855280|8792774|8723684|8692825|8527219|8496659|8478017|8460149|8318993|8318509|8254047|8078915|7883971|7657833|7593600|7229035|6876109|5808059|5475509|5319116|4984720|4472544|4368720|4363864|4074366|4031057|3975124|3949756|3860811|3841481|3841204|3787263|3773997|3771801|3763409|3759943|3680528|3676265|3659919|3584472|3522585|3513177|3477815|3473077|3464946|3461454|3460091|3455779|3399894|3200853|3095664|3030729|3024002|3017840|3012797|3012469|3003743|3001697|2994225|2911570|2909827|2904569|2903181|2901434|2901432|2876424|2872432|2843815|2773938|2725600|2614276|2574033|2567736|2565046|2564152|2563166|2472350|2450346|2419898|2375782|2312735|2307462|2022744|1985459|1977310|1939657|1731805|1689953|1602000|1600334|1570833|1562615|1493642|1466657|1454832|1424233|1370364|1360085|1347103|221546|176662|176106|174851	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	2	21231524	rs676210	G	A	221.41	PASS	APOB	apolipoprotein B	exonic	NM_000384	.	missense SNV	APOB:NM_000384:exon26:c.C8216T:p.P2739L	ENST00000233242.1	.	2p24.1	.	.	.	.	.	rs676210	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116390.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	LDL (oxidized),Lipid metabolism phenotypes	0.719269	0.7192	0.366214	0.1965	0.2928	0.7217	0.724349012251	0.711538290865	0.0,D	0.999,D	1.0,D	1.75193e-09,P	0.000061,D	2.785,M	5.21,T	18.7715	2.437	9.807	5.786771,27.1	5.22	AC=34;AN=44;BQB=0.807118;DP4=109,56,354,194;DP=928;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.851333;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,14,16,17,18,19,20,21,22,24;SGB=-0.693132;VDB=0.556157	GT:DP:DV:PL	1/1:34:34:255,102,0	1/1:28:28:255,84,0	1/1:33:33:255,99,0	0/1:29:15:255,0,255	0/1:18:8:170,0,218	1/1:27:27:255,81,0	0/1:46:25:255,0,255	.	1/1:36:36:255,108,0	1/1:24:24:255,72,0	0/1:32:19:255,0,255	0/1:41:17:255,0,255	0/1:23:12:255,0,255	0/1:35:17:255,0,255	1/1:24:24:255,72,0	.	1/1:40:40:255,120,0	0/1:27:14:255,0,255	0/1:42:20:255,0,255	1/1:41:41:255,123,0	0/1:42:23:255,0,255	1/1:45:45:255,135,0	1/1:15:15:255,45,0	.	1/1:31:31:255,93,0	G	A	12	10	Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)	23247145(3E-47);19936222(9E-56);19936222(4E-64);19936222(2E-9)	Hypocholesterolaemia, association with(CM980093)	CCA-CTA|Pro2739Leu|c.8216C>T|p.P2739L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9490296&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21502677&dopt=Abstract)	9490296|20981092|21502677|21981844|20686565|20506408|19450445|18354102|17595251|17158591|16030169|15984016|15538359|14691182|14618390|14147429|13971876|13682582|12655413|12124991|12066187|11940084|11781700|11494965|11115503|10952765|9603795|9508071|9486979|9339363|8855280|8792774|8723684|8692825|8527219|8496659|8478017|8460149|8318993|8318509|8254047|8078915|7883971|7657833|7593600|7229035|6876109|5808059|5475509|5319116|4984720|4472544|4368720|4363864|4074366|4031057|3975124|3949756|3860811|3841481|3841204|3787263|3773997|3771801|3763409|3759943|3680528|3676265|3659919|3584472|3522585|3513177|3477815|3473077|3464946|3461454|3460091|3455779|3399894|3200853|3095664|3030729|3024002|3017840|3012797|3012469|3003743|3001697|2994225|2911570|2909827|2904569|2903181|2901434|2901432|2876424|2872432|2843815|2773938|2725600|2614276|2574033|2567736|2565046|2564152|2563166|2472350|2450346|2419898|2375782|2312735|2307462|2022744|1985459|1977310|1939657|1731805|1689953|1602000|1600334|1570833|1562615|1493642|1466657|1454832|1424233|1370364|1360085|1347103|221546|176662|176106|174851	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	2	21250914	rs679899	G	A	216.92	PASS	APOB	apolipoprotein B	exonic	NM_000384	.	missense SNV	APOB:NM_000384:exon14:c.C1853T:p.A618V	ENST00000233242.1,ENST00000399256.4	.	2p24.1	.	.	.	.	.	rs679899	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116384.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.862126	0.8641	0.485024	0.3655	0.4857	0.8565	0.837671972435	0.849759353365	0.005,D	0.998,D	1.0,D	2.73428e-05,P	0.000042,D	2.695,M	-0.62,T	20.2886	2.882	6.555	5.620190,26.6	5.73	AC=42;AN=50;BQB=0.977251;DP4=47,56,197,262;DP=722;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.869851;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.0383046	GT:DP:DV:PL	1/1:31:31:255,93,0	0/1:35:17:255,0,255	1/1:19:19:255,57,0	1/1:15:15:255,45,0	1/1:26:26:255,78,0	1/1:23:23:255,69,0	1/1:18:18:255,54,0	0/1:28:11:255,0,255	1/1:19:19:255,57,0	1/1:19:19:255,57,0	0/1:20:8:244,0,255	1/1:23:22:255,9,0	0/1:20:8:170,0,242	0/1:21:10:255,0,255	1/1:24:24:255,72,0	0/1:26:15:255,0,242	1/1:30:30:255,90,0	1/1:16:16:255,48,0	1/1:18:18:255,54,0	0/1:20:8:211,0,255	1/1:25:25:255,75,0	1/1:32:32:255,96,0	0/1:16:7:166,0,255	1/1:21:21:255,63,0	1/1:17:17:255,51,0	G	A	17	8	Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)	.	Altered APOB levels(CM984191)	GCT-GTT|Ala618Val|c.1853C>T|p.A618V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9690921&dopt=Abstract)	9690921|21981844|20686565|20506408|19450445|18354102|17595251|17158591|16030169|15984016|15538359|14691182|14618390|14147429|13971876|13682582|12655413|12124991|12066187|11940084|11781700|11494965|11115503|10952765|9603795|9508071|9486979|9339363|8855280|8792774|8723684|8692825|8527219|8496659|8478017|8460149|8318993|8318509|8254047|8078915|7883971|7657833|7593600|7229035|6876109|5808059|5475509|5319116|4984720|4472544|4368720|4363864|4074366|4031057|3975124|3949756|3860811|3841481|3841204|3787263|3773997|3771801|3763409|3759943|3680528|3676265|3659919|3584472|3522585|3513177|3477815|3473077|3464946|3461454|3460091|3455779|3399894|3200853|3095664|3030729|3024002|3017840|3012797|3012469|3003743|3001697|2994225|2911570|2909827|2904569|2903181|2901434|2901432|2876424|2872432|2843815|2773938|2725600|2614276|2574033|2567736|2565046|2564152|2563166|2472350|2450346|2419898|2375782|2312735|2307462|2022744|1985459|1977310|1939657|1731805|1689953|1602000|1600334|1570833|1562615|1493642|1466657|1454832|1424233|1370364|1360085|1347103|221546|176662|176106|174851	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	2	21252534	rs13306194	G	A	222.75	PASS	APOB	apolipoprotein B	exonic	NM_000384	.	missense SNV	APOB:NM_000384:exon12:c.C1594T:p.R532W	ENST00000233242.1,ENST00000399256.4	.	2p24.1	.	.	.	.	.	rs13306194	.	.	0.13289	0.128	0.0273562	0.0002	0.0114	0.1403	0.121745669219	0.129807391827	0.0,D	1.0,D	1.0,D	0.981105,D	0.000026,D	3.07,M	0.76,T	18.9382	-0.329	0.243	5.886789,27.4	.	AC=9;AN=16;BQB=0.626915;DP4=135,41,185,55;DP=549;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.738968;SF=6,7,11,15,17,18,20,23;SGB=-0.692831;VDB=0.137726	GT:DP:DV:PL	.	.	.	.	.	.	0/1:44:24:255,0,255	0/1:51:22:255,0,255	.	.	.	0/1:51:25:255,0,255	.	.	.	0/1:47:23:255,0,255	.	0/1:42:24:255,0,255	0/1:50:28:255,0,255	.	0/1:67:30:255,0,255	.	.	1/1:64:64:255,193,0	.	G	A	1	7	Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)	.	Hypercholesterolaemia, association with(CM135480)	CGG-TGG|Arg532Trp|c.1594C>T|p.R532W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23593297&dopt=Abstract)	23593297|21981844|20686565|20506408|19450445|18354102|17595251|17158591|16030169|15984016|15538359|14691182|14618390|14147429|13971876|13682582|12655413|12124991|12066187|11940084|11781700|11494965|11115503|10952765|9603795|9508071|9486979|9339363|8855280|8792774|8723684|8692825|8527219|8496659|8478017|8460149|8318993|8318509|8254047|8078915|7883971|7657833|7593600|7229035|6876109|5808059|5475509|5319116|4984720|4472544|4368720|4363864|4074366|4031057|3975124|3949756|3860811|3841481|3841204|3787263|3773997|3771801|3763409|3759943|3680528|3676265|3659919|3584472|3522585|3513177|3477815|3473077|3464946|3461454|3460091|3455779|3399894|3200853|3095664|3030729|3024002|3017840|3012797|3012469|3003743|3001697|2994225|2911570|2909827|2904569|2903181|2901434|2901432|2876424|2872432|2843815|2773938|2725600|2614276|2574033|2567736|2565046|2564152|2563166|2472350|2450346|2419898|2375782|2312735|2307462|2022744|1985459|1977310|1939657|1731805|1689953|1602000|1600334|1570833|1562615|1493642|1466657|1454832|1424233|1370364|1360085|1347103|221546|176662|176106|174851	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	2	26699126	rs4335905	C	G	227.28	PASS	OTOF	otoferlin	exonic	NM_001287489,NM_004802,NM_194248,NM_194322,NM_194323	.	synonymous SNV	OTOF:NM_194322:exon5:c.G666C:p.L222L,OTOF:NM_004802:exon6:c.G495C:p.L165L,OTOF:NM_194323:exon6:c.G495C:p.L165L,OTOF:NM_001287489:exon23:c.G2736C:p.L912L,OTOF:NM_194248:exon23:c.G2736C:p.L912L	ENST00000272371.2,ENST00000403946.3,ENST00000402415.3,ENST00000338581.6,ENST00000339598.3	.	2p23.3	.	.	Score=895;Name=V$AREB6_01	.	.	rs4335905	CLINSIG=Benign|Benign;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNACC=RCV000021051.1|RCV000041509.2;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C1832828:601071|CN169374	.	0.98505	0.9831	0.707867	0.5298	0.5634	0.9868	0.979326361409	0.979567319712	.	.	.	.	.	.	.	.	-1.406	-1.046	.	.	AC=47;AN=50;BQB=0.286587;DP4=31,31,399,462;DP=1227;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.403791;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.192198	GT:DP:DV:PL	0/1:24:10:255,0,255	1/1:31:31:255,93,0	1/1:44:44:255,132,0	1/1:30:30:255,90,0	1/1:33:33:255,99,0	1/1:74:74:255,223,0	1/1:35:35:255,105,0	1/1:31:31:255,93,0	1/1:31:31:255,93,0	1/1:27:27:255,81,0	1/1:33:33:255,99,0	1/1:34:34:255,102,0	0/1:36:18:255,0,255	1/1:44:44:255,132,0	1/1:36:36:255,108,0	1/1:27:27:255,81,0	1/1:24:24:255,72,0	1/1:27:27:255,81,0	1/1:25:25:255,75,0	1/1:28:28:255,84,0	1/1:30:30:255,90,0	0/1:63:33:255,0,255	1/1:25:25:255,75,0	1/1:72:72:255,217,0	1/1:59:59:255,178,0	C	G	22	3	Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy, autosomal recessive, 1, 601071 (3)	.	Deafness, non-syndromic(CI084299)	AGGTG^911GAGCTagctGTACCTGTGG|c.2732_2735dupAGCT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18381613&dopt=Abstract)	18381613|22575033|19417007|19250381|17055430|16371502|16097006|14635104|12525542|12127154|12114484|10903124|10878664|10843812|10192385|9657592	SENSORY_PERCEPTION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;MEMBRANE_FUSION;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;CELL_FRACTION;CYTOSOL;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	.	PS1,PS3,BA1
L	2	27730940	rs1260326	T	C	222.95	PASS	GCKR	glucokinase (hexokinase 4) regulator	exonic	NM_001486	.	missense SNV	GCKR:NM_001486:exon15:c.T1337C:p.L446P	ENST00000424318.2,ENST00000264717.2	.	2p23.3	.	.	.	.	.	rs1260326	CLINSIG=other;CLNDBN=Fasting_plasma_glucose_level_quantitative_trait_locus_5;CLNACC=RCV000009294.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3150714:613463	Cardiovascular disease risk factors,Lipid metabolism phenotypes,Two-hour glucose challenge,C-reactive protein levels,Glycemic traits (pregnancy),Chronic kidney disease,Urate levels,Hematological and biochemical traits,Non-albumin protein levels,Lipoprotein-associated phospholipase A2 activity and mass,Blood metabolite levels,Lipid traits,Gout,Metabolic traits,Platelet count,Blood metabolite ratios,Waist circumference and related phenotypes,Triglycerides,Hypertriglyceridemia,Metabolite levels,Serum total protein level,Coffee consumption (cups per day),Urate levels in overweight individuals,Cholesterol, total,Liver enzyme levels (gamma-glutamyl transferase),Serum albumin level	0.511628	0.5188	0.706669	0.6759	0.6429	0.5061	0.500000140888	0.501201978365	.	.	.	0.267129,P	.	.	.	6.3237	0.409	0.075	.	2.95	AC=22;AN=38;BQB=0.989673;DP4=261,96,333,124;DP=1025;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.514603;SF=0,1,2,3,5,6,7,8,9,11,12,15,17,18,19,20,21,23,24;SGB=-0.690438;VDB=0.475603	GT:DP:DV:PL	0/1:33:17:255,0,255	0/1:37:23:255,0,255	0/1:38:20:255,0,255	1/1:40:40:255,120,0	.	0/1:57:25:255,0,255	0/1:45:18:255,0,255	0/1:45:23:255,0,255	0/1:38:23:255,0,255	1/1:39:39:255,117,0	.	0/1:38:18:255,0,255	0/1:37:18:255,0,255	.	.	0/1:50:24:255,0,255	.	0/1:33:17:255,0,255	0/1:39:21:255,0,255	0/1:43:18:255,0,255	1/1:35:34:255,68,0	0/1:61:28:255,0,255	.	0/1:53:25:255,0,255	0/1:53:26:255,0,255	T	C	3	16	[Fasting plasma glucose level QTL 5], 613463 (3)	24386095(3E-7);24097068(2E-239);24097068(3E-42);23903356(6E-13);23903356(6E-11);23505323(2E-13);23263486(1E-44);23118302(5E-6);23022100(4E-6);23022100(6E-8);23022100(4E-19);23022100(2E-8);23022100(3E-14);22916037(1E-12);22558069(3E-9);22286219(3E-18);22139419(9E-10);22001757(4E-13);21943158(2E-8);21300955(5E-40);20686565(6E-133);20686565(7E-27);20657596(7E-9);20383146(3E-14);20139978(1E-11);20139978(4E-9);20081857(3E-10);19936222(4E-32);19936222(4E-24);19936222(3E-35);19936222(3E-29);19936222(3E-28);19936222(1E-37);19060910(4E-10);19060906(2E-31);18454146(4E-8)	Hyperglycaemia, reduced risk, association with(CM083701)	CCG-CTG|Pro446Leu|c.1337C>T|p.P446L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18556336&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23894584&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19643913&dopt=Abstract)	18556336|23894584|19643913|24226772|21886157|20081858|19643913|18678614|18556336|10713097|10588736|9570959|8662230|8589523|7508874	.	.	ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_GLUCOSE_TRANSPORT;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_REGULATION_OF_GLUCOKINASE_BY_GLUCOKINASE_REGULATORY_PROTEIN	PS1,PS3,BA1
L	2	31805706	rs523349	G	C	222.33	PASS	SRD5A2	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	exonic	NM_000348	.	unknown	UNKNOWN	ENST00000405650.1	CpG: 96	2p23.1	.	.	.	.	.	rs523349	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000083650.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.450166	0.4792	0.652157	0.7245	0.6999	0.5396	0.419601834609	0.437499966346	.	.	.	.	.	.	.	.	0.044	-0.055	.	2.17	AC=20;AN=30;BQB=0.982216;DP4=161,45,286,54;DP=688;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.14069;SF=1,3,4,5,10,12,13,14,15,17,18,19,20,22,24;SGB=-0.690438;VDB=0.293665	GT:DP:DV:PL	.	0/1:34:17:255,0,255	.	1/1:42:42:255,126,0	0/1:36:17:255,0,255	1/1:33:33:255,99,0	.	.	.	.	0/1:42:20:255,0,255	.	0/1:37:19:231,0,255	0/1:41:18:255,0,255	0/1:35:15:255,0,255	1/1:37:37:255,111,0	.	0/1:40:20:255,0,255	0/1:31:17:254,0,227	1/1:35:35:255,105,0	0/1:49:21:255,0,255	.	1/1:11:11:255,33,0	.	0/1:43:18:255,0,255	G	C	5	10	Pseudovaginal perineoscrotal hypospadias, 264600 (3)	.	Prostate cancer, protection against, association(CM973350)	GTA-CTA|Val89Leu|c.265G>C|p.V89L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9067262&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21631525&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23505265&dopt=Abstract)	9067262|21631525|23505265|18469342|16849416|16174723|14560315|12843198|11164181|11158057|10999800|10898110|10501358|10404813|9843052|9745434|9467575|9066886|8768837|8706317|8626825|7688765|7554313|1944596|1522235|1406794|1345916|431680	SYSTEM_DEVELOPMENT;REPRODUCTIVE_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;ANATOMICAL_STRUCTURE_DEVELOPMENT;MALE_GONAD_DEVELOPMENT;ORGAN_DEVELOPMENT;REPRODUCTION	.	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_PROSTATE_CANCER	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_ANDROGEN_BIOSYNTHESIS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	2	38298203	rs1056836	C	G	226.28	PASS	CYP1B1	cytochrome P450, family 1, subfamily B, polypeptide 1	exonic	NM_000104	.	missense SNV	CYP1B1:NM_000104:exon3:c.G1294C:p.V432L	ENST00000260630.3,ENST00000407341.1,ENST00000494864.1	.	2p22.2	.	.	Score=863;Name=V$NFE2_01	.	.	rs1056836	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153126.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.920266	0.9087	0.614816	0.4456	0.6195	0.8970	0.849157687596	0.902644461538	0.313,T	0.006,B	0.001,B	1,P	0.543299,N	.	-0.3,T	13.4692	2.824	0.163	1.710051,14.46	5.95	AC=43;AN=50;BQB=0.367442;DP4=94,38,610,228;DP=1309;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.461115;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=0.38635	GT:DP:DV:PL	0/1:29:21:255,0,178	1/1:38:38:255,114,0	0/1:51:22:255,0,255	1/1:41:41:255,123,0	1/1:48:48:255,144,0	1/1:51:51:255,154,0	1/1:25:25:255,75,0	1/1:42:42:255,126,0	1/1:30:30:255,90,0	1/1:31:31:255,93,0	1/1:40:40:255,120,0	1/1:34:34:255,102,0	1/1:25:25:255,75,0	1/1:41:41:255,123,0	1/1:37:37:255,111,0	0/1:47:23:255,0,255	1/1:43:43:255,129,0	0/1:43:25:255,0,255	1/1:39:39:255,117,0	0/1:40:22:255,0,255	1/1:34:34:255,102,0	0/1:41:17:255,0,255	0/1:22:11:255,0,253	1/1:55:55:255,166,0	1/1:43:43:255,129,0	C	G	18	7	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3); Peters anomaly, 604229 (3)	.	Prostate cancer, association with(CM004465)	CTG-GTG|Leu432Val|c.1294C>G|p.L432V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15330195&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24099281&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15958554&dopt=Abstract)	15330195|24099281|15958554|21081970|19807744|19643970|19234632|18537981|18470941|16982751|15342693|12624268|12395298|12372064|11774072|11403040|10910054|10655546|10227395|9497261|9463332|9097971|8910454|8175734|2825178	GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_TRYPTOPHAN_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS	PS1,PS3,BA1
L	2	44071743	rs4148211	A	G	227.28	PASS	ABCG8	ATP-binding cassette, sub-family G (WHITE), member 8	exonic	NM_022437	.	missense SNV	ABCG8:NM_022437:exon2:c.A161G:p.Y54C	ENST00000272286.2	.	2p21	.	.	.	.	.	rs4148211	.	.	0.862126	0.8512	0.434704	0.3209	0.4287	0.8702	0.84073485758	0.820913151442	0.043,D	0.191,B	0.321,B	3.14219e-08,P	0.000154,N	1.895,L	-2.38,D	10.9764	0.856	5.346	4.161713,23.8	4.12	AC=47;AN=50;BQB=0.0884415;DP4=21,38,363,552;DP=1257;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.123214;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.00544749	GT:DP:DV:PL	1/1:39:39:255,117,0	1/1:43:43:255,129,0	0/1:34:15:255,0,255	1/1:37:37:255,111,0	0/1:47:22:255,0,255	1/1:46:46:255,138,0	1/1:38:38:255,114,0	1/1:35:35:255,105,0	1/1:39:39:255,117,0	1/1:28:28:255,84,0	1/1:43:43:255,129,0	0/1:34:19:255,0,220	1/1:25:25:255,75,0	1/1:40:40:255,120,0	1/1:31:31:255,93,0	1/1:45:45:255,135,0	1/1:38:38:255,114,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	1/1:40:40:255,120,0	1/1:45:45:255,135,0	1/1:53:53:255,160,0	1/1:25:25:255,75,0	1/1:43:43:255,129,0	1/1:58:58:255,175,0	A	G	22	3	Sitosterolemia, 210250 (3); Gallbladder disease 4, 611465 (3)	.	Smaller decline in cholesterol synthesis after weight loss(CM075964)	TAC-TGC|Tyr54Cys|c.161A>G|p.Y54C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17827468&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20170916&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24498041&dopt=Abstract)	17827468|20170916|24498041|22981120|17632509|16029460|15996216|15372105|11901146|11452359|11099417|6110091|4360855|3706300	.	.	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT	PS1,PS3,BA1
L	2	44104925	rs6544718	T	C	227.76	PASS	ABCG8	ATP-binding cassette, sub-family G (WHITE), member 8	exonic	NM_022437	.	missense SNV	ABCG8:NM_022437:exon13:c.T1895C:p.V632A	ENST00000272286.2	.	2p21	.	.	.	.	.	rs6544718	.	.	1	1	0.922923	0.8372	0.8421	0.9997	0.994640220521	0.998798028846	0.893,T	0.0,B	0.0,B	1,P	0.555832,N	-1.59,N	2.43,T	5.3432	-0.225	0.137	.	.	AC=49;AN=50;BQB=0.867096;DP4=16,16,1187,610;DP=2547;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983223;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00691292	GT:DP:DV:PL	1/1:65:65:255,193,0	1/1:71:71:255,214,0	1/1:73:73:255,220,0	1/1:63:63:255,190,0	0/1:70:40:255,0,255	1/1:90:90:255,255,0	1/1:75:75:255,226,0	1/1:90:90:255,255,0	1/1:71:71:255,214,0	1/1:65:64:255,159,0	1/1:77:77:255,232,0	1/1:59:59:255,178,0	1/1:71:71:255,214,0	1/1:99:99:255,255,0	1/1:68:68:255,205,0	1/1:62:62:255,187,0	1/1:66:66:255,199,0	1/1:50:50:255,151,0	1/1:64:64:255,193,0	1/1:79:79:255,238,0	1/1:73:73:255,220,0	1/1:99:99:255,255,0	1/1:42:42:255,126,0	1/1:80:79:255,181,0	1/1:107:107:255,255,0	T	C	24	1	Sitosterolemia, 210250 (3); Gallbladder disease 4, 611465 (3)	.	Increased serum cholesterol, in low-cholesterol consumers(CM067333)	GCC-GTC|Ala632Val|c.1895C>T|p.A632V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16980816&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11893785&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20581104&dopt=Abstract)	16980816|11893785|20581104|22981120|17632509|16029460|15996216|15372105|11901146|11452359|11099417|6110091|4360855|3706300	.	.	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT	PS1,PS3,BA1
L	2	47601106	rs1126497	T	C	225.64	PASS	EPCAM	epithelial cell adhesion molecule	exonic	NM_002354	.	missense SNV	EPCAM:NM_002354:exon3:c.T344C:p.M115T	ENST00000405271.1,ENST00000263735.4	.	2p21	.	.	Score=960;Name=V$USF_C	.	.	rs1126497	CLINSIG=Benign;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000162369.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009	.	0.83887	0.8323	0.666134	0.5667	0.5198	0.8267	0.823123794793	0.837740180288	1.0,T	0.0,B	0.0,B	1,P	0.060350,N	-1.4,N	0.05,T	11.8944	0.160	0.041	.	.	AC=42;AN=50;BQB=0.930786;DP4=107,42,570,272;DP=1383;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.877833;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0639986	GT:DP:DV:PL	1/1:46:46:255,138,0	1/1:44:44:255,132,0	0/1:36:13:244,0,255	1/1:53:53:255,160,0	0/1:39:20:255,0,255	1/1:57:57:255,172,0	1/1:41:41:255,123,0	1/1:43:43:255,129,0	1/1:31:31:255,93,0	0/1:35:17:255,0,255	1/1:35:35:255,105,0	0/1:28:16:255,0,255	1/1:38:38:255,114,0	1/1:31:31:255,93,0	1/1:32:32:255,96,0	1/1:40:40:255,120,0	0/1:38:14:255,0,255	0/1:34:21:255,0,235	1/1:37:37:255,111,0	1/1:27:27:255,81,0	1/1:51:51:255,154,0	0/1:61:32:255,0,255	0/1:27:16:255,0,233	1/1:40:40:255,120,0	1/1:47:47:255,141,0	T	C	17	8	Diarrhea 5, with tufting enteropathy, congenital, 613217 (3); Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)	.	Breast cancer, increased risk, association with(CM1110060)	ACG-ATG|Thr115Met|c.344C>T|p.T115M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20683652&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22322561&dopt=Abstract)	20683652|22322561|24142340|23462293|21315192|21309036|20034091|19820410|19098912|18572020|16951683|11435477|11306819|9481629|8382772|8057225|7636644|3770992|2469722|2463074|2333300|2307544	.	MEMBRANE;PLASMA_MEMBRANE	.	.	.	.	.	PS1,PS3,BA1
L	2	48921375	rs2293275	T	C	223.32	PASS	LHCGR	luteinizing hormone/choriogonadotropin receptor	exonic	NM_000233	.	missense SNV	LHCGR:NM_000233:exon10:c.A935G:p.N312S	ENST00000401907.1,ENST00000344775.3,ENST00000402114.2,ENST00000403273.1,ENST00000405626.1,ENST00000294954.7	.	2p16.3	.	.	.	.	.	rs2293275	.	.	0.92691	0.9276	0.591054	0.4912	0.6376	0.9309	0.907350551302	0.923076574519	0.346,T	0.003,B	0.004,B	1.27639e-05,P	0.180938,N	0.735,N	-0.77,T	9.9216	0.848	1.185	.	3.9	AC=48;AN=50;BQB=0.922869;DP4=10,4,272,95;DP=534;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.374083;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69168;VDB=0.566647	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:17:17:255,51,0	1/1:9:9:255,27,0	1/1:25:25:255,75,0	0/1:22:13:255,0,233	1/1:18:18:255,54,0	1/1:12:12:255,36,0	1/1:13:13:255,39,0	1/1:17:17:255,51,0	1/1:13:13:255,39,0	1/1:13:13:255,39,0	1/1:17:17:255,51,0	1/1:9:9:255,27,0	1/1:11:11:255,33,0	1/1:17:17:255,51,0	1/1:19:19:255,57,0	1/1:18:18:255,54,0	1/1:18:18:255,54,0	1/1:14:14:255,42,0	0/1:14:9:255,0,135	1/1:21:21:255,63,0	1/1:12:12:255,36,0	1/1:5:5:152,15,0	1/1:11:11:255,33,0	1/1:17:17:255,51,0	T	C	23	2	Precocious puberty, male, 176410 (3); Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3); Luteinizing hormone resistance, female, 238320 (3); Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)	.	Polycystic ovary syndrome, increased risk(CM125685)	AGT-AAT|Ser312Asn|c.935G>A|p.S312N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22356187&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24792890&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22882535&dopt=Abstract)	22356187|24792890|22882535|15472221|15372531|14726596|12727981|12679452|12050206|11943741|11857565|11397866|11391350|11134146|11075813|11041448|10852464|10580072|10084607|9851790|9817592|9703386|9661624|9626653|9626144|9514160|9467560|9435458|9253338|9215288|8929952|8923827|8855841|8559204|8319598|8281137|7892197|7757065|7719343|7714085|7692306|7629248|7581384|7562970|7556872|7527413|5120648|4352188|4345503|2502844|2502842|2249480|2244890|1954899	SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;REPRODUCTIVE_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;ANATOMICAL_STRUCTURE_DEVELOPMENT;MALE_GONAD_DEVELOPMENT;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;REPRODUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_ARF6_PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_HORMONE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	2	85895338	rs2077079	T	G	200.86	PASS	SFTPB	surfactant protein B	exonic	NM_000542,NM_198843	.	missense SNV	SFTPB:NM_000542:exon2:c.A5C:p.H2P,SFTPB:NM_198843:exon2:c.A5C:p.H2P	ENST00000342375.3,ENST00000393822.3,ENST00000409383.1	.	2p11.2	.	.	.	.	.	rs2077079	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000151854.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.5	0.505	0.41853	0.3511	0.4254	0.5353	0.473011	0.503605637019	0.657,T	0.0,B	0.0,B	1,P	.	.	-0.24,T	5.5933	0.387	0.821	.	2.47	AC=29;AN=42;BQB=0.939898;DP4=46,121,78,260;DP=592;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.657699;SF=0,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,20,21,22,23;SGB=-0.692717;VDB=0.00135002	GT:DP:DV:PL	1/1:23:23:255,69,0	.	1/1:21:21:255,63,0	0/1:21:11:219,0,181	0/1:27:16:240,0,158	0/1:31:14:246,0,255	1/1:22:22:255,66,0	0/1:19:8:154,0,166	0/1:20:11:255,0,215	0/1:13:7:189,0,125	1/1:23:23:255,69,0	0/1:11:5:170,0,190	1/1:22:22:255,66,0	.	0/1:29:15:255,0,247	1/1:16:16:255,48,0	1/1:19:19:255,57,0	0/1:18:7:177,0,200	0/1:33:21:203,0,235	.	1/1:20:20:255,60,0	0/1:46:22:253,0,255	0/1:28:12:207,0,255	0/1:43:23:255,0,255	.	T	G	8	13	Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)	.	Increased promoter activity(CR077669)	CACGCCCCGCCCAGCTATAAGGGGCCATGC(A-C)CCAAGCAGGGTACCCAGGCTGCAGAGGTGC 527 relative to transcription initiation site(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17071721&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26202972&dopt=Abstract)	17071721|26202972|16333843|15927881|15102713|12501227|11063734|10960490|10712351|10571948|10378403|8421459|8163685|7956367|7647155|7644495|7491219|3035561|2924687|2893456|1769356|1568474|1415726|1346779	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;RESPIRATORY_GASEOUS_EXCHANGE;ORGAN_DEVELOPMENT	.	.	.	.	.	.	PS1,PS3,BA1
L	2	109513601	rs3827760	A	G	227	PASS	EDAR	ectodysplasin A receptor	exonic	NM_022336	.	missense SNV	EDAR:NM_022336:exon12:c.T1109C:p.V370A	ENST00000376651.1,ENST00000258443.2,ENST00000409271.1	.	2q12.3	.	.	.	.	.	rs3827760	CLINSIG=other|Benign;CLNDBN=Hair_morphology_1\x2c_hair_thickness|not_specified;CLNACC=RCV000006216.2|RCV000174399.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374	.	0.913621	0.873	0.235623	0.0104	0.1300	0.9120	0.918835774885	0.911057550481	0.001,D	0.279,B	0.656,P	0.626035,P	0.000901,D	0.55,N	-1.99,D	15.8747	2.142	8.963	2.522765,19.61	5.64	AC=44;AN=48;BQB=0.907278;DP4=59,46,712,446;DP=1698;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.733592;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.859428	GT:DP:DV:PL	1/1:57:57:255,172,0	.	1/1:55:55:255,166,0	1/1:48:48:255,144,0	0/1:54:27:255,0,255	1/1:57:57:255,172,0	1/1:42:42:255,126,0	1/1:57:57:255,172,0	1/1:48:48:255,144,0	1/1:50:50:255,151,0	1/1:55:55:255,166,0	1/1:46:46:255,138,0	0/1:49:31:255,0,255	1/1:56:56:255,169,0	1/1:41:41:255,123,0	1/1:47:47:255,141,0	1/1:62:62:255,187,0	1/1:33:33:255,99,0	0/1:57:27:255,0,255	1/1:57:57:255,172,0	1/1:50:50:255,151,0	1/1:84:84:255,253,0	1/1:24:24:255,72,0	1/1:68:68:255,205,0	0/1:66:36:255,0,255	A	G	20	4	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3); [Hair morphology 1, hair thickness], 612630 (3)	.	Increased hair thickness, in Asians, association with(CM081233)	GTT-GCT|Val370Ala|c.1109T>C|p.V370A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18065779&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26105758&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18493316&dopt=Abstract)	18065779|26105758|18493316|18816645|18704500|18561327|18231121|18065779|17943131|16769906|16435307|16029325|15373768|15013427|12917689|12787560|11309369|11242109|11039935|10431242|10431241	.	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION	.	.	.	PS1,PS3,BA1
L	2	152527572	rs7426114	C	T	215.73	PASS	NEB	nebulin	exonic	NM_001164507,NM_001164508,NM_001271208,NM_004543	.	missense SNV	NEB:NM_001164507:exon38:c.G4471A:p.V1491M,NEB:NM_001164508:exon38:c.G4471A:p.V1491M,NEB:NM_001271208:exon38:c.G4471A:p.V1491M,NEB:NM_004543:exon38:c.G4471A:p.V1491M	ENST00000409198.1,ENST00000172853.10,ENST00000397345.3,ENST00000603639.1,ENST00000427231.2,ENST00000604864.1	.	2q23.3	.	.	.	.	.	rs7426114	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000081137.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.387043	0.379	0.533147	0.6615	0.7386	0.4071	0.402756323124	0.390624862981	0.03,D	0.42,B	0.82,P	0.400328,P	0.000183,D	2.325,M	3.22,T	14.7853	2.691	2.698	5.308447,25.8	5.42	AC=32;AN=44;BQB=0.995546;DP4=84,34,278,77;DP=632;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.334294;SF=0,1,2,4,5,6,7,8,9,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.10893	GT:DP:DV:PL	0/1:23:14:255,0,213	1/1:21:21:255,63,0	0/1:24:15:255,0,211	.	0/1:26:16:255,0,220	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:20:20:255,60,0	0/1:24:12:255,0,255	0/1:14:6:172,0,215	.	1/1:23:23:255,69,0	0/1:21:11:251,0,214	1/1:17:17:255,51,0	0/1:20:14:243,0,142	0/1:24:15:255,0,229	1/1:28:28:255,84,0	.	0/1:25:15:255,0,222	0/1:24:8:190,0,255	1/1:15:15:255,45,0	0/1:21:9:222,0,255	1/1:12:12:255,36,0	1/1:23:23:255,69,0	0/1:22:15:255,0,193	C	T	10	12	Nemaline myopathy 2, autosomal recessive, 256030 (3)	.	Stress fracture, association with(CM1414605)	GTG-ATG|Val1491Met|c.4471G>A|p.V1491M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25023003&dopt=Abstract)	25023003|21148390|19346529|19232495|16917880|16157704|15266303|15221447|12207937|10051637|9359044|9284930|8626778|7739042|3397062|2838409|1683831	.	SARCOMERE;CYTOPLASMIC_PART;CONTRACTILE_FIBER;MYOFIBRIL;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;CONTRACTILE_FIBER_PART;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	PS1,PS3,BA1
L	2	157406249	rs2116665	G	A	226.8	PASS	GPD2	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	exonic	NM_000408,NM_001083112	.	missense SNV	GPD2:NM_000408:exon7:c.G791A:p.R264H,GPD2:NM_001083112:exon7:c.G791A:p.R264H	ENST00000540309.1,ENST00000438166.2,ENST00000409674.1,ENST00000409125.4,ENST00000310454.6	.	2q24.1	.	.	.	.	.	rs2116665	.	.	0.77907	0.7847	0.657947	0.6301	0.6831	0.7979	0.796325007657	0.796875096154	0.082,T	0.013,B	0.02,B	0.142285,P	0.001700,N	1.395,L	-0.27,T	10.1454	0.412	1.962	1.173176,11.61	3.17	AC=45;AN=50;BQB=0.959275;DP4=85,109,750,646;DP=2208;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996318;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000410177	GT:DP:DV:PL	1/1:67:67:255,202,0	1/1:48:48:255,144,0	1/1:65:65:255,196,0	0/1:68:33:255,0,255	1/1:46:46:255,138,0	0/1:85:46:255,0,255	1/1:62:62:255,187,0	1/1:72:72:255,217,0	1/1:71:71:255,214,0	0/1:59:34:255,0,255	1/1:61:61:255,184,0	1/1:74:74:255,223,0	1/1:48:48:255,144,0	1/1:56:56:255,169,0	1/1:46:46:255,138,0	1/1:55:55:255,166,0	1/1:69:69:255,208,0	1/1:50:50:255,151,0	1/1:75:75:255,226,0	1/1:64:64:255,193,0	1/1:62:62:255,187,0	0/1:105:45:255,0,255	1/1:27:27:255,81,0	1/1:86:86:255,255,0	0/1:69:34:255,0,255	G	A	20	5	{Diabetes, type 2, susceptibility to}, 125853 (3)	.	Increased plasma FFA and glycerol levels(CM012769)	CAT-CGT|His264Arg|c.791A>G|p.H264R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11243726&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	11243726|20981092|24847880|12093800|12093799|10954707|9070847|8682323|8666138|8549872|6808887	.	.	CATION_BINDING;CALCIUM_ION_BINDING;OXIDOREDUCTASE_ACTIVITY;ION_BINDING;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM	.	BIOCARTA_ETC_PATHWAY	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PS1,PS3,BA1
L	2	163124051	rs1990760	C	T	192.6	PASS	IFIH1	interferon induced with helicase C domain 1	exonic	NM_022168	.	missense SNV	IFIH1:NM_022168:exon15:c.G2836A:p.A946T	ENST00000263642.2	.	2q24.2	.	.	Score=886;Name=V$SRY_02	.	.	rs1990760	.	Immunoglobulin A,Type 1 diabetes,Type 1 diabetes autoantibodies,Psoriasis	0.171096	0.1865	0.356629	0.4614	0.5047	0.1737	0.192955577335	0.185095867788	0.513,T	0.027,B	0.105,B	0.208488,P	0.030455,N	1.555,L	0.95,T	7.7307	1.243	0.671	1.521026,13.42	3.87	AC=10;AN=20;BQB=0.850016;DP4=49,64,38,58;DP=275;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.860501;SF=5,6,11,13,14,15,16,17,18,20;SGB=-0.683931;VDB=0.0205696	GT:DP:DV:PL	.	.	.	.	.	0/1:29:13:255,0,255	0/1:18:7:186,0,255	.	.	.	.	0/1:22:8:247,0,255	.	0/1:11:5:173,0,207	0/1:18:6:180,0,255	0/1:25:11:255,0,255	0/1:20:12:255,0,198	0/1:23:11:238,0,255	0/1:24:11:213,0,255	.	0/1:19:12:255,0,192	.	.	.	.	C	T	0	10	Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3)	21829393(2E-14);20694011(7E-10);19430480(7E-9);17554260(2E-11)	Diabetes, type 1, association with(CM066881)	GCA-ACA|Ala946Thr|c.2836G>A|p.A946T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16699517&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19539001&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24386202&dopt=Abstract)	16699517|19539001|24386202|26275108|25620204|25243380|24995871|24686847|24530055|23328395|21705624|21070929|20694011|19825843|16625202|11805321	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	PS1,PS3,BA1
L	2	163128824	rs3747517	T	C	170.86	PASS	IFIH1	interferon induced with helicase C domain 1	exonic	NM_022168	.	missense SNV	IFIH1:NM_022168:exon13:c.A2528G:p.H843R	ENST00000263642.2	.	2q24.2	.	.	.	.	.	rs3747517	.	Psoriasis	0.307309	0.3135	0.589856	0.6916	0.6762	0.3116	0.316232981623	0.320913555288	1.0,T	0.0,B	0.0,B	0.998624,P	0.000000,N	-2.52,N	3.83,T	15.0983	1.449	4.687	1.137402,11.42	5.76	AC=17;AN=28;BQB=0.981425;DP4=74,17,90,27;DP=290;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875173;SF=0,3,5,6,7,11,13,14,15,16,18,20,22,23;SGB=-0.651104;VDB=0.96514	GT:DP:DV:PL	0/1:14:8:223,0,172	.	.	0/1:13:9:247,0,104	.	0/1:16:7:195,0,255	1/1:13:13:255,39,0	0/1:23:8:192,0,255	.	.	.	0/1:18:4:102,0,255	.	0/1:16:4:136,0,255	0/1:19:9:221,0,255	1/1:12:12:255,36,0	1/1:11:11:255,33,0	.	0/1:18:9:225,0,196	.	0/1:20:14:255,0,141	.	0/1:6:4:114,0,56	0/1:9:5:169,0,147	.	T	C	3	11	Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3)	.	Colorectal cancer, increased risk, association with(CM065280)	CGT-CAT|Arg843His|c.2528G>A|p.R843H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17000706&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23535865&dopt=Abstract)	17000706|23535865|26275108|25620204|25243380|24995871|24686847|24530055|23328395|21705624|21070929|20694011|19825843|16625202|11805321	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	PS1,PS3,BA1
L	2	166892788	rs2298771	C	T	226.96	PASS	SCN1A	sodium channel, voltage gated, type I alpha subunit	exonic	NM_001165963,NM_001165964,NM_001202435,NM_006920	.	missense SNV	SCN1A:NM_001165963:exon16:c.G3199A:p.A1067T,SCN1A:NM_001165964:exon16:c.G3115A:p.A1039T,SCN1A:NM_006920:exon16:c.G3166A:p.A1056T,SCN1A:NM_001202435:exon18:c.G3199A:p.A1067T	ENST00000595647.1,ENST00000595268.1,ENST00000303395.4,ENST00000409050.1,ENST00000375405.3,ENST00000423058.2,ENST00000599041.1,ENST00000597623.1	.	2q24.3	.	.	.	.	.	rs2298771	CLINSIG=Benign|other;CLNDBN=Generalized_epilepsy_with_febrile_seizures_plus|not_specified;CLNACC=RCV000030432.1|RCV000079572.8;CLNDSDB=MedGen|MedGen;CLNDSDBID=C3502809|CN169374	.	0.883721	0.8899	0.788538	0.7232	0.7252	0.8979	0.877488497703	0.888221204327	0.603,T	0.001,B	0.0,B	1,P	0.797044,N	-0.49,N	-3.85,D	16.3124	-0.778	-0.564	1.256784,12.04	.	AC=44;AN=48;BQB=0.959099;DP4=48,18,429,258;DP=1001;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0358221;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693141;VDB=0.774643	GT:DP:DV:PL	1/1:37:37:255,111,0	1/1:29:29:255,87,0	0/1:31:11:255,0,255	1/1:51:51:255,154,0	1/1:36:36:255,108,0	0/1:24:10:254,0,255	1/1:32:32:255,96,0	1/1:29:29:255,87,0	0/1:34:15:255,0,255	1/1:36:36:255,108,0	0/1:25:12:255,0,255	1/1:33:33:255,99,0	1/1:19:19:255,57,0	1/1:27:27:255,81,0	1/1:17:17:255,51,0	1/1:32:32:255,96,0	1/1:32:32:255,96,0	1/1:20:20:255,60,0	1/1:40:40:255,120,0	1/1:23:23:255,69,0	1/1:28:28:255,84,0	1/1:51:51:255,154,0	.	1/1:35:35:255,105,0	1/1:32:32:255,96,0	C	T	20	4	Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3); Dravet syndrome, 607208 (3); Migraine, familial hemiplegic, 3, 609634 (3); Febrile seizures, familial, 3A, 604403 (3)	.	Epilepsy, symptomatic, reduced risk(CM144700)	GCA-ACA|Ala1067Thr|c.3199G>A|p.A1067T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24337656&dopt=Abstract)	24337656|22914087|21753172|21555645|20543825|19949041|19763161|19586930|19522081|19332696|19289736|19234123|18930999|18680191|18413471|17881658|17537961|17436242|17001291|17000989|16921370|16505326|16326807|16054936|15880351|15805193|15277634|15277629|12754708|12566275|12086636|12083760|11940708|11779698|11756608|11524484|11359211|11254445|11254444|10742094|10521305|10486327|8159690|8062593|2429308|1679748	.	.	.	.	.	.	.	PS1,PS3,BA1
L	2	167099158	rs6746030	A	G	219.58	PASS	SCN9A	sodium channel, voltage gated, type IX alpha subunit	exonic	NM_002977	.	missense SNV	SCN9A:NM_002977:exon19:c.T3448C:p.W1150R	ENST00000303354.6,ENST00000409435.1,ENST00000447809.2,ENST00000409672.1,ENST00000375387.4	.	2q24.3	.	.	.	.	.	rs6746030	CLINSIG=Benign;CLNDBN=Primary_erythromelalgia;CLNACC=RCV000020514.1;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C0014805:133020:90026:403390002	.	0.956811	0.9593	0.887181	0.8774	0.8693	0.9543	0.944602	0.956731108173	1.0,T	0.0,B	0.0,B	1,P	0.119239,N	-3.27,N	-1.51,D	5.279	0.479	0.947	.	3.83	AC=42;AN=48;BQB=0.941765;DP4=23,31,172,227;DP=595;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.817367;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.680642;VDB=0.00467214	GT:DP:DV:PL	0/1:24:12:255,0,255	1/1:21:21:255,63,0	.	1/1:23:23:255,69,0	0/1:18:10:218,0,225	1/1:18:18:255,54,0	1/1:17:17:255,51,0	1/1:25:25:255,75,0	1/1:17:17:255,51,0	1/1:19:19:255,57,0	1/1:22:22:255,66,0	0/1:17:7:127,0,255	1/1:19:19:255,57,0	0/1:21:10:255,0,239	1/1:16:16:255,48,0	1/1:20:20:255,60,0	1/1:23:23:255,69,0	0/1:17:11:255,0,127	1/1:18:18:255,54,0	0/1:16:9:255,0,232	1/1:15:15:255,45,0	1/1:25:25:255,75,0	1/1:13:13:255,39,0	1/1:16:16:255,48,0	1/1:13:13:255,39,0	A	G	18	6	Erythermalgia, primary, 133020 (3); Paroxysmal extreme pain disorder, 167400, (3); Insensitivity to pain, congenital, 243000 (3); Febrile seizures, familial, 3B, 613863 (3); Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3); Small fiber neuropathy, 133020 (3); {Dravet syndrome, modifier of}, 607208 (3); HSAN2D, autosomal recessive, 243000 (3)	.	Erythermalgia, primary(CM051623)	CGG-TGG|Arg1150Trp|c.3448C>T|p.R1150W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15955112&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20033988&dopt=Abstract)	15955112|20981092|20033988|24820863|24817410|23596073|22826602|22174253|21698661|21441906|19763161|19369487|17470132|17167479|17145499|17145494|17101882|16988069|16702558|16392115|16216943|15958509|15955112|15385606|15178348|14985375|10852560|10852559|10514109|9169448|7720699|1536168	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	2	169830328	rs2287622	A	G	219.68	PASS	ABCB11	ATP-binding cassette, sub-family B (MDR/TAP), member 11	exonic	NM_003742	.	missense SNV	ABCB11:NM_003742:exon13:c.T1331C:p.V444A	ENST00000263817.6	.	2q31.1	.	.	.	.	.	rs2287622	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000174528.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.664452	0.6984	0.588658	0.5958	0.5794	0.7293	0.700612588055	0.685096158654	0.25,T	0.003,B	0.001,B	0.0760141,P	0.060788,N	0.145,N	-3.2,D	11.852	1.114	2.034	1.829640,15.16	4.62	AC=38;AN=50;BQB=0.820031;DP4=91,71,266,238;DP=882;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968753;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.756064	GT:DP:DV:PL	0/1:23:9:242,0,255	0/1:24:13:255,0,255	1/1:23:23:255,69,0	0/1:21:14:255,0,195	0/1:43:24:255,0,255	1/1:35:35:255,105,0	0/1:28:11:255,0,255	1/1:29:29:255,87,0	1/1:26:26:255,78,0	1/1:19:19:255,57,0	1/1:21:21:255,63,0	0/1:31:16:255,0,255	1/1:28:28:255,84,0	1/1:23:23:255,69,0	1/1:20:20:255,60,0	1/1:38:38:255,114,0	0/1:27:14:255,0,255	0/1:18:11:238,0,203	0/1:36:18:255,0,255	0/1:17:8:235,0,254	1/1:34:34:255,102,0	0/1:36:17:255,0,255	1/1:8:8:227,24,0	0/1:20:7:198,0,255	1/1:38:38:255,114,0	A	G	13	12	Cholestasis, progressive familial intrahepatic 2, 601847 (3); Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)	.	Cholestasis, drug-induced, association with(CM071525)	GTC-GCC|Val444Ala|c.1331T>C|p.V444A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17264802&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20163776&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19101985&dopt=Abstract)	17264802|20163776|19101985|16871584|16039748|15300568|11172067|10579978|9806540|9545351	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;MONOCARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS	.	BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_RECYCLING_OF_BILE_ACIDS_AND_SALTS;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	2	182543455	rs1801262	T	C	227.04	PASS	NEUROD1	neuronal differentiation 1	exonic	NM_002500	.	missense SNV	NEUROD1:NM_002500:exon2:c.A133G:p.T45A	ENST00000496876.1,ENST00000479558.1,ENST00000295108.3	.	2q31.3	.	.	.	.	.	rs1801262	.	.	0.913621	0.9196	0.770767	0.6694	0.7027	0.9164	0.901990445636	0.913461216346	1.0,T	0.0,B	0.0,B	1,P	0.288948,N	-0.69,N	-3.57,D	9.2816	0.741	1.165	.	4.43	AC=46;AN=50;BQB=0.885371;DP4=63,50,488,475;DP=1421;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.51853;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693145;VDB=0.20506	GT:DP:DV:PL	1/1:41:41:255,123,0	1/1:34:34:255,102,0	0/1:36:16:255,0,255	1/1:35:35:255,105,0	1/1:55:54:255,130,0	1/1:62:62:255,187,0	1/1:44:44:255,132,0	1/1:44:44:255,132,0	1/1:32:32:255,96,0	1/1:34:34:255,102,0	0/1:40:19:255,0,255	1/1:45:45:255,135,0	1/1:34:34:255,102,0	1/1:43:43:255,129,0	1/1:31:31:255,93,0	1/1:20:20:255,60,0	1/1:42:42:255,126,0	1/1:40:40:255,120,0	1/1:32:32:255,96,0	1/1:45:45:255,135,0	1/1:36:36:255,108,0	0/1:95:43:255,0,255	0/1:31:12:255,0,255	1/1:60:60:255,181,0	1/1:65:65:255,196,0	T	C	21	4	{Diabetes mellitus, noninsulin-dependent}, 125853 (3); Maturity-onset diabetes of the young 6, 606394 (3)	.	Diabetes mellitus, type 1, association with(CM032967)	GCC-ACC|Ala45Thr|c.133G>A|p.A45T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12639765&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23203005&dopt=Abstract)	12639765|23203005|22784109|21617644|14691153|12533605|11575290|11090132|10639171|10545951|9308961|8786144|7774807|7754368	.	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT;REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS	PS1,PS3,BA1
L	2	189864080	rs1800255	G	A	200.33	PASS	COL3A1	collagen, type III, alpha 1	exonic	NM_000090	.	missense SNV	COL3A1:NM_000090:exon30:c.G2092A:p.A698T	ENST00000304636.3,ENST00000317840.5	.	2q32.2	.	.	Score=750;Name=V$HEN1_02	.	.	rs1800255	CLINSIG=Benign|Benign|Benign;CLNDBN=COLLAGEN_TYPE_III_POLYMORPHISM|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNACC=RCV000018745.2|RCV000124409.2|RCV000177438.1;CLNDSDB=.|MedGen:Orphanet|MedGen;CLNDSDBID=.|CN118826:ORPHA91387|CN169374	.	0.225914	0.2331	0.21845	0.2139	0.3204	0.3038	0.225115127106	0.210336752404	0.231,T	0.0,B	0.0,B	0.708441,P	0.017354,N	0.975,L	-3.22,D	1.7367	0.246	0.487	3.333551,22.9	.	AC=15;AN=24;BQB=0.441233;DP4=68,15,118,23;DP=301;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.148122;SF=0,3,4,8,9,10,11,14,15,17,18,20;SGB=-0.662043;VDB=0.441507	GT:DP:DV:PL	0/1:21:9:215,0,255	.	.	0/1:27:11:207,0,255	0/1:23:17:247,0,179	.	.	.	0/1:15:9:209,0,135	0/1:10:6:193,0,147	0/1:24:12:233,0,255	0/1:16:9:234,0,200	.	.	0/1:17:9:255,0,245	1/1:18:18:255,54,0	.	0/1:22:10:225,0,240	1/1:14:14:255,42,0	.	1/1:17:17:255,51,0	.	.	.	.	G	A	3	9	Ehlers-Danlos syndrome, type IV, 130050 (3)	.	Intracranial aneurysm, association with(CM086593)	GCT-ACT|Ala698Thr|c.2092G>A|p.A698T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18642782&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22241462&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19152942&dopt=Abstract)	18642782|22241462|19152942|23645670|19455184|18305222|12786757|12694234|11577371|10928898|10770987|10706896|10051163|9712532|9546331|9399899|9284930|9147870|9101290|9050868|8990011|8664902|8514866|8477261|8320698|8098182|7833919|7749417|7581395|7230200|6507506|6477831|4011449|3858826|3224983|3204406|3162228|3076851|3004202|2987919|2981879|2834369|2808425|2780304|2771024|2710295|2583342|2492273|2365710|2349939|2243125|2235526|2145268|1998337|1981051|1979060|1939638|1895316|1757960|1672129|1619632|1568754|1496983|1370809|1357232|1352273	SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_ENDOTHELINPATHWAY;PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	211540507	rs1047891	C	A	201	PASS	CPS1	carbamoyl-phosphate synthase 1, mitochondrial	exonic	NM_001122633,NM_001122634,NM_001875	.	missense SNV	CPS1:NM_001122634:exon26:c.C2864A:p.T955N,CPS1:NM_001875:exon36:c.C4217A:p.T1406N,CPS1:NM_001122633:exon37:c.C4235A:p.T1412N	ENST00000451903.2,ENST00000233072.5,ENST00000430249.2	.	2q34	.	.	.	.	.	rs1047891	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000116832.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	Plasma homocysteine levels (post-methionine load test),HDL cholesterol	0.126246	0.1389	0.288538	0.3292	0.3034	0.1674	0.133997007657	0.123798103365	0.102,T	0.025,B	0.009,B	0.915149,P	0.003423,N	1.695,L	-1.67,D	9.5512	1.580	1.757	2.953194,22.1	5.2	AC=7;AN=12;BQB=0.836852;DP4=42,20,52,39;DP=217;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.385791;SF=4,7,15,20,22,23;SGB=-0.686358;VDB=0.439122	GT:DP:DV:PL	.	.	.	.	0/1:21:14:255,0,203	.	.	0/1:33:16:255,0,255	.	.	.	.	.	.	.	0/1:29:10:255,0,255	.	.	.	.	1/1:34:34:255,102,0	.	0/1:12:4:124,0,255	0/1:24:13:255,0,255	.	C	A	1	5	Carbamoylphosphate synthetase I deficiency, 237300 (3); {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3)	24651765(9E-13);24097068(9E-10)	Hyperammonaemia, association with(CM109955)	ACC-AAC|Thr1406Asn|c.4217C>A|p.T1406N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20456087&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21821508&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25569235&dopt=Abstract)	20456087|21821508|25569235|25410056|21767969|21120950|20154341|19793055|18063578|17310273|16708072|15465784|14718356|12853138|12655559|11474210|11407344|9711878|9107685|8486760|8382576|7590739|7587391|6249820|6208196|4944634|3545062|2991241|2991113|1840546|206435	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY	KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM;KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_NITROGEN_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	2	227661043	rs1801123	T	C	224	PASS	IRS1	insulin receptor substrate 1	exonic	NM_005544	.	synonymous SNV	IRS1:NM_005544:exon1:c.A2412G:p.A804A	ENST00000305123.5	.	2q36.3	.	.	Score=970;Name=V$HSF2_01	.	.	rs1801123	.	.	0.265781	0.2649	0.279952	0.1988	0.1781	0.2361	0.238132019908	0.24519240625	.	.	.	.	.	.	.	.	-2.453	-6.179	.	.	AC=8;AN=12;BQB=0.905186;DP4=76,53,164,109;DP=521;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.941732;SF=1,4,5,7,20,22;SGB=-0.693136;VDB=0.769855	GT:DP:DV:PL	.	0/1:70:35:255,0,255	.	.	0/1:70:35:255,0,255	1/1:79:79:255,238,0	.	0/1:80:41:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	1/1:71:71:255,214,0	.	0/1:32:12:255,0,255	.	.	T	C	2	4	{Diabetes mellitus, noninsulin-dependent}, 125853 (3); {Coronary artery disease, susceptibility to} (3)	.	Diabetes, NIDDM, association with(CM004559)	GCA-GCG|Ala804Ala|c.2412A>G|p.A804A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11775217&dopt=Abstract)	11775217|23354051|20081861|19734900|18834857|17827156|17700539|15711641|15372106|15240653|15197263|14707024|14671192|12843189|12679424|11292874|10843189|10749573|10642598|10606633|10591678|10430617|10399915|10084586|9541510|9312143|8723689|8647950|8513971|8477879|8104271|8083355|8048169|8020946|7623569|1648180|1311924	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INSULIN_RECEPTOR_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	VESICULAR_FRACTION;CYTOPLASM;NUCLEUS;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_DOMAIN_SPECIFIC_BINDING;KINASE_BINDING;SH2_DOMAIN_BINDING;PROTEIN_COMPLEX_BINDING;INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_BINDING;RECEPTOR_BINDING;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;ENZYME_BINDING	KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	PID_INSULIN_PATHWAY;PID_IL4_2PATHWAY;PID_PTP1BPATHWAY;PID_RET_PATHWAY;PID_SHP2_PATHWAY;PID_MTOR_4PATHWAY;PID_IL2_1PATHWAY;PID_IGF1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_S1P_S1P2_PATHWAY	BIOCARTA_GH_PATHWAY;BIOCARTA_IGF1_PATHWAY;BIOCARTA_IL4_PATHWAY;BIOCARTA_IL2RB_PATHWAY;BIOCARTA_INSULIN_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_EIF4_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_GROWTH_HORMONE_RECEPTOR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_PI3K_AKT_ACTIVATION;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_SIGNAL_ATTENUATION;REACTOME_SOS_MEDIATED_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_PI3K_CASCADE	PS1,PS3,BA1
L	2	228118867	rs80109666	G	A	222	PASS	COL4A3	collagen, type IV, alpha 3 (Goodpasture antigen)	exonic	NM_000091	.	missense SNV	COL4A3:NM_000091:exon14:c.G805A:p.E269K	ENST00000439598.2,ENST00000396578.3,ENST00000437673.1,ENST00000606119.1,ENST00000396588.2	.	2q36.3	.	.	.	.	.	rs80109666	.	.	0.151163	0.1438	0.0607029	0.0227	0.0234	0.1500	0.142419600306	0.141826990385	0.475,T	0.271,B	0.827,P	1,P	0.536580,N	1.405,L	-3.37,D	7.9227	-1.518	-1.206	.	.	AC=4;AN=8;BQB=0.988522;DP4=27,20,31,24;DP=141;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.749312;SF=6,9,16,20;SGB=-0.662043;VDB=0.478363	GT:DP:DV:PL	.	.	.	.	.	.	0/1:20:9:255,0,255	.	.	0/1:26:15:255,0,255	.	.	.	.	.	.	0/1:25:13:255,0,255	.	.	.	0/1:31:18:255,0,255	.	.	.	.	G	A	0	4	Alport syndrome, autosomal recessive, 203780 (3); Hematuria, benign familial, 141200 (3); Alport syndrome, autosomal dominant, 104200 (3)	.	Alport syndrome(CM1414117)	GAG-TAG|Glu269Term|c.805G>T|p.E269*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24854265&dopt=Abstract)	24854265|25575550|23927549|18818312|16254142|16252232|15979458|12815141|12682293|12039968|11961012|11778052|11709013|11399763|11134255|11044206|10837460|10766752|10534397|10493512|10464328|9647515|9537506|9269635|9252346|9195222|8956999|8662866|8505332|8294492|8083201|8016138|7987396|7987301|7633417|6328527|3417661|2671463|2438283|2409091|1882840|1737849|1635348|1400291	REGULATION_OF_HYDROLASE_ACTIVITY;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_ANGIOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;POSITIVE_REGULATION_OF_CASPASE_ACTIVITY;SENSORY_PERCEPTION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANGIOGENESIS;REGULATION_OF_ANGIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;VASCULATURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;APOPTOTIC_PROGRAM;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;SYSTEM_PROCESS;APOPTOSIS_GO;REGULATION_OF_CELL_PROLIFERATION;CASPASE_ACTIVATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	INTEGRIN_BINDING;PROTEIN_COMPLEX_BINDING;RECEPTOR_BINDING	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	228131169	rs11677877	A	G	197.08	PASS	COL4A3	collagen, type IV, alpha 3 (Goodpasture antigen)	exonic	NM_000091	.	missense SNV	COL4A3:NM_000091:exon22:c.A1352G:p.H451R	ENST00000439598.2,ENST00000396578.3,ENST00000396588.2	.	2q36.3	.	.	.	.	.	rs11677877	.	.	0.184385	0.1577	0.111422	0.0735	0.0944	0.1546	0.183001257274	0.188701646635	0.237,T	0.1,B	0.145,B	1,P	0.417004,N	-0.215,N	-4.07,D	4.1959	-1.113	-0.285	.	.	AC=12;AN=24;BQB=0.650664;DP4=119,55,87,46;DP=415;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.60635;SF=1,3,4,5,8,9,11,14,15,19,20,22;SGB=-0.680642;VDB=0.0530937	GT:DP:DV:PL	.	0/1:27:12:255,0,255	.	0/1:27:11:255,0,255	0/1:28:14:255,0,255	0/1:26:6:135,0,255	.	.	0/1:38:20:255,0,255	0/1:25:9:227,0,255	.	0/1:25:9:238,0,255	.	.	0/1:18:10:255,0,206	0/1:33:14:255,0,255	.	.	.	0/1:20:11:255,0,220	0/1:30:13:255,0,255	.	0/1:10:4:125,0,177	.	.	A	G	0	12	Alport syndrome, autosomal recessive, 203780 (3); Hematuria, benign familial, 141200 (3); Alport syndrome, autosomal dominant, 104200 (3)	.	Chronic obstructive pulmonary disease, association with(CM085146)	CAC-CGC|His451Arg|c.1352A>G|p.H451R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18385178&dopt=Abstract)	18385178|25575550|23927549|18818312|16254142|16252232|15979458|12815141|12682293|12039968|11961012|11778052|11709013|11399763|11134255|11044206|10837460|10766752|10534397|10493512|10464328|9647515|9537506|9269635|9252346|9195222|8956999|8662866|8505332|8294492|8083201|8016138|7987396|7987301|7633417|6328527|3417661|2671463|2438283|2409091|1882840|1737849|1635348|1400291	REGULATION_OF_HYDROLASE_ACTIVITY;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_ANGIOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;POSITIVE_REGULATION_OF_CASPASE_ACTIVITY;SENSORY_PERCEPTION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANGIOGENESIS;REGULATION_OF_ANGIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;VASCULATURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;APOPTOTIC_PROGRAM;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;SYSTEM_PROCESS;APOPTOSIS_GO;REGULATION_OF_CELL_PROLIFERATION;CASPASE_ACTIVATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	INTEGRIN_BINDING;PROTEIN_COMPLEX_BINDING;RECEPTOR_BINDING	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	231050715	rs3948464	A	G	228	PASS	SP110	SP110 nuclear body protein	exonic	NM_001185015,NM_004509,NM_004510,NM_080424	.	missense SNV	SP110:NM_004509:exon11:c.T1274C:p.L425S,SP110:NM_004510:exon11:c.T1274C:p.L425S,SP110:NM_080424:exon11:c.T1274C:p.L425S,SP110:NM_001185015:exon12:c.T1292C:p.L431S	ENST00000392048.3,ENST00000358662.4,ENST00000338556.3,ENST00000258381.6,ENST00000540870.1,ENST00000258382.5	.	2q37.1	.	.	.	.	.	rs3948464	CLINSIG=Uncertain significance;CLNDBN=Mycobacterium_tuberculosis\x2c_susceptibility_to;CLNACC=RCV000005877.5;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1834752:607948	.	0.996678	0.995	0.903954	0.8627	0.8869	0.9968	0.997703274119	0.996394370192	0.157,T	0.001,B	0.0,B	1,P	0.733030,N	0.205,N	-0.12,T	3.5984	-0.896	-0.364	.	.	AC=50;AN=50;DP4=0,0,905,195;DP=1524;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.333477	GT:DP:DV:PL	1/1:38:38:255,114,0	1/1:35:35:255,105,0	1/1:38:38:255,111,0	1/1:47:47:255,141,0	1/1:50:50:255,151,0	1/1:62:62:255,187,0	1/1:42:42:255,126,0	1/1:58:58:255,175,0	1/1:31:31:255,93,0	1/1:46:46:255,138,0	1/1:45:45:255,135,0	1/1:43:43:255,129,0	1/1:21:21:255,63,0	1/1:49:49:255,148,0	1/1:45:45:255,135,0	1/1:41:41:255,123,0	1/1:42:42:255,126,0	1/1:38:38:255,114,0	1/1:43:43:255,129,0	1/1:49:49:255,148,0	1/1:49:49:255,148,0	1/1:48:48:255,141,0	1/1:27:27:255,81,0	1/1:56:56:255,169,0	1/1:57:57:255,172,0	A	G	25	0	Hepatic venoocclusive disease with immunodeficiency, 235550 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	.	Tuberculosis, reduced susceptibility, association with(CM066604)	TCG-TTG|Ser425Leu|c.1274C>T|p.S425L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16803959&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	16803959|25525159|17149599|16816019|16803959|16648851|15815631|10388521|7693701	.	NUCLEUS	RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;DNA_BINDING	.	.	.	.	PS1,PS3,BA1
L	2	231077110	rs9061	C	T	178.29	PASS	SP110	SP110 nuclear body protein	exonic	NM_001185015,NM_004509,NM_004510,NM_080424	.	missense SNV	SP110:NM_004509:exon5:c.G619A:p.E207K,SP110:NM_004510:exon5:c.G619A:p.E207K,SP110:NM_080424:exon5:c.G619A:p.E207K,SP110:NM_001185015:exon6:c.G637A:p.E213K	ENST00000392048.3,ENST00000486146.2,ENST00000358662.4,ENST00000338556.3,ENST00000258381.6,ENST00000540870.1,ENST00000258382.5	.	2q37.1	.	.	.	.	.	rs9061	.	.	0.181063	0.1726	0.130591	0.0883	0.1142	0.1829	0.186829762634	0.187499959135	0.196,T	0.008,B	0.049,B	1,P	0.145246,N	0.695,N	2.88,T	5.2135	-1.181	-0.451	1.164917,11.56	.	AC=16;AN=30;BQB=0.993592;DP4=110,41,115,40;DP=428;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982301;SF=0,1,3,4,5,6,10,11,15,16,17,18,20,22,23;SGB=-0.670168;VDB=0.897593	GT:DP:DV:PL	0/1:20:10:255,0,255	0/1:24:13:255,0,255	.	0/1:24:10:230,0,255	0/1:18:9:225,0,252	0/1:27:18:255,0,206	1/1:25:25:255,75,0	.	.	.	0/1:17:8:224,0,246	0/1:18:6:157,0,255	.	.	.	0/1:16:8:206,0,215	0/1:19:9:226,0,255	0/1:14:4:120,0,255	0/1:23:12:255,0,251	.	0/1:22:7:172,0,255	.	0/1:11:2:78,0,246	0/1:28:14:255,0,255	.	C	T	1	14	Hepatic venoocclusive disease with immunodeficiency, 235550 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)	.	Pulmonary tuberculosis, association with(CM131316)	GAA-AAA|Glu207Lys|c.619G>A|p.E207K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23129390&dopt=Abstract)	23129390|17149599|16816019|16803959|16648851|15815631|10388521|7693701	.	NUCLEUS	RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;DNA_BINDING	.	.	.	.	PS1,PS3,BA1
L	2	234669144	rs4148323	G	A	223.33	PASS	UGT1A1	UDP glucuronosyltransferase 1 family, polypeptide A1	exonic	NM_000463	.	missense SNV	UGT1A1:NM_000463:exon1:c.G211A:p.G71R	ENST00000373450.4,ENST00000608381.1,ENST00000609767.1,ENST00000354728.4,ENST00000373409.3,ENST00000305208.5,ENST00000360418.3,ENST00000373414.3,ENST00000482026.1,ENST00000373426.3,ENST00000608383.1,ENST00000373445.1,ENST00000609637.1,ENST00000305139.6,ENST00000344644.5,ENST00000406651.1,ENST00000373424.1	.	2q37.1	.	.	.	.	.	rs4148323	CLINSIG=other|Pathogenic|other|Likely benign|Likely pathogenic;CLNDBN=Gilbert's_syndrome|Hyperbilirubinemia_transient_familial_neonatal|Bilirubin\x2c_serum_level_of\x2c_quantitative_trait_locus_1|not_specified|Hyperbilirubinemia;CLNACC=RCV000013071.25|RCV000022810.24|RCV000022811.2|RCV000173139.1|RCV000192783.1;CLNDSDB=MedGen:OMIM:SNOMED_CT|.|MedGen:OMIM|MedGen|Human_Phenotype_Ontology:MedGen;CLNDSDBID=C0017551:143500:27503000|.|C1866173:601816|CN169374|HP:0002904:C0020433	Bilirubin levels	0.164452	0.1379	0.034345	0.0013	0.0207	0.1524	0.176110584992	0.170673334135	0.04,D	0.625,P	0.982,D	1,P	.	1.39,L	0.09,T	7.6122	2.890	3.145	4.055357,23.7	5.14	AC=11;AN=18;BQB=0.39876;DP4=167,89,227,98;DP=822;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999815;SF=1,4,5,7,9,13,16,20,23;SGB=-0.693147;VDB=0.219349	GT:DP:DV:PL	.	1/1:57:57:255,172,0	.	.	0/1:52:18:255,0,255	1/1:73:73:255,220,0	.	0/1:70:28:255,0,255	.	0/1:43:15:255,0,255	.	.	.	0/1:77:39:255,0,255	.	.	0/1:62:35:255,0,255	.	.	.	0/1:73:30:255,0,255	.	.	0/1:74:30:255,0,255	.	G	A	2	7	Crigler-Najjar syndrome, type I, 218800 (3); [Gilbert syndrome], 143500 (3); Crigler-Najjar syndrome, type II, 606785 (3); Hyperbilirubinemia, familial transient neonatal, 237900 (3); [Bilirubin, serum level of, QTL1], 601816 (3)	23371916(7E-30);23371916(5E-69);23371916(2E-62);20639394(3E-139)	Hyperbilirubinaemia, association with(CM930722)	GGA-AGA|Gly71Arg|c.211G>A|p.G71R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17850628&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8280139&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25200497&dopt=Abstract)	17850628|8280139|25200497|24870236|23014115|21886157|21412181|19414484|19243019|18518849|18180294|18004212|18004206|17496722|16712705|16141793|16114182|15857854|15586176|15572581|15378351|15372086|15007088|14616765|14557274|14550264|12859413|12850492|12618960|12402338|11968090|11906189|11465080|11434514|11425418|11370628|11061796|11013440|11003624|10968441|10946897|10836148|10472535|10468611|10412811|10190918|9929972|9784835|9653159|9621515|9497253|9466980|9446675|9375769|9375768|9342374|9295054|9271343|9039987|8780690|8706880|8528206|8514037|8467709|8276413|8226884|8102509|7989595|7936809|7906695|7565971|6480579|3141926|3138978|3109396|2108603|1910331|1909870|1898728|1692835|1685137|1634606|1634050|1531971|1503396|1359870|1339448|805737	COFACTOR_METABOLIC_PROCESS;STEROID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;COFACTOR_CATABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;HETEROCYCLE_METABOLIC_PROCESS;CATABOLIC_PROCESS;HORMONE_METABOLIC_PROCESS	.	.	KEGG_PENTOSE_AND_GLUCURONATE_INTERCONVERSIONS;KEGG_ASCORBATE_AND_ALDARATE_METABOLISM;KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUCURONIDATION;REACTOME_PHASE_II_CONJUGATION;REACTOME_METABOLISM_OF_PORPHYRINS	PS1,PS3,BA1
L	2	238243292	rs1131296	G	A	169.75	PASS	COL6A3	collagen, type VI, alpha 3	exonic	NM_004369,NM_057166,NM_057167	.	missense SNV	COL6A3:NM_057166:exon38:c.C7385T:p.T2462I,COL6A3:NM_057167:exon40:c.C8588T:p.T2863I,COL6A3:NM_004369:exon41:c.C9206T:p.T3069I	ENST00000353578.4,ENST00000347401.3,ENST00000346358.4,ENST00000472056.1,ENST00000409809.1,ENST00000295550.4	.	2q37.3	.	.	Score=823;Name=V$ER_Q6	.	.	rs1131296	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000081023.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.461794	0.4802	0.346246	0.3623	0.3884	0.4933	0.467840529862	0.460336596154	0.168,T	0.006,B	0.003,B	0.991314,P	0.718837,N	0.2,N	1.58,T	9.5989	-0.602	0.604	1.842504,15.24	.	AC=18;AN=32;BQB=0.94394;DP4=109,19,117,31;DP=360;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=1,3,4,5,6,7,8,10,11,14,15,16,19,20,23,24;SGB=-0.556411;VDB=0.535497	GT:DP:DV:PL	.	0/1:12:4:120,0,223	.	0/1:25:10:179,0,255	0/1:12:7:190,0,119	0/1:24:10:195,0,255	0/1:15:7:227,0,218	1/1:18:18:255,54,0	0/1:14:6:123,0,210	.	0/1:11:5:147,0,178	0/1:19:10:238,0,194	.	.	0/1:18:7:152,0,255	0/1:22:12:255,0,255	1/1:11:11:255,33,0	.	.	0/1:15:10:235,0,111	0/1:24:13:226,0,244	.	.	0/1:17:10:253,0,198	0/1:19:8:184,0,252	G	A	2	14	Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3)	.	Neuromuscular disorder(CM151273)	ACC-ATC|Thr3069Ile|c.9206C>T|p.T3069I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25380242&dopt=Abstract)	25380242|26004199|19564581|17886299|15689448|15563506|11992252|11709013|9536084|9520112|8817344|3348212|2022673|1689238	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	238243464	rs2270669	C	G	221.26	PASS	COL6A3	collagen, type VI, alpha 3	exonic	NM_004369,NM_057166,NM_057167	.	missense SNV	COL6A3:NM_057166:exon38:c.G7213C:p.A2405P,COL6A3:NM_057167:exon40:c.G8416C:p.A2806P,COL6A3:NM_004369:exon41:c.G9034C:p.A3012P	ENST00000353578.4,ENST00000347401.3,ENST00000346358.4,ENST00000472056.1,ENST00000409809.1,ENST00000295550.4	.	2q37.3	.	.	Score=830;Name=V$OLF1_01	.	.	rs2270669	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000081019.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.719269	0.7312	0.792332	0.8351	0.7729	0.7159	0.70673823124	0.705528711538	1.0,T	0.0,B	0.0,B	0.994486,P	0.000045,N	-2.28,N	2.08,T	16.1489	1.247	5.502	2.827094,21.5	5.29	AC=27;AN=38;BQB=0.642444;DP4=146,58,274,137;DP=862;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.660454;SF=0,1,3,4,5,6,7,8,10,11,12,14,15,16,19,20,22,23,24;SGB=-0.693079;VDB=0.560737	GT:DP:DV:PL	1/1:29:29:255,87,0	0/1:38:15:255,0,255	.	0/1:31:20:255,0,221	1/1:24:24:255,72,0	0/1:58:26:255,0,255	0/1:26:13:252,0,255	1/1:24:24:255,72,0	0/1:33:19:255,0,255	.	1/1:27:27:255,81,0	1/1:28:28:255,84,0	0/1:32:19:255,0,255	.	1/1:21:21:255,63,0	1/1:31:31:255,93,0	1/1:24:24:255,72,0	.	.	0/1:34:20:255,0,255	0/1:41:21:255,0,255	.	0/1:19:8:198,0,255	0/1:49:25:255,0,255	0/1:46:17:255,0,255	C	G	8	11	Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3)	.	Neuromuscular disorder(CM151272)	GCT-CCT|Ala3012Pro|c.9034G>C|p.A3012P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25380242&dopt=Abstract)	25380242|26004199|19564581|17886299|15689448|15563506|11992252|11709013|9536084|9520112|8817344|3348212|2022673|1689238	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	238244963	rs6728818	A	G	222.67	PASS	COL6A3	collagen, type VI, alpha 3	exonic	NM_004369,NM_057166,NM_057167	.	missense SNV	COL6A3:NM_057166:exon37:c.T6959C:p.M2320T,COL6A3:NM_057167:exon39:c.T8162C:p.M2721T,COL6A3:NM_004369:exon40:c.T8780C:p.M2927T	ENST00000353578.4,ENST00000347401.3,ENST00000346358.4,ENST00000472056.1,ENST00000409809.1,ENST00000295550.4	.	2q37.3	.	.	.	.	.	rs6728818	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000081013.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.521595	0.5417	0.636581	0.6966	0.6386	0.5460	0.528330975498	0.519230865385	1.0,T	0.0,B	0.0,B	1,P	0.270051,N	-1.935,N	-2.18,D	5.0729	0.255	1.747	.	2.21	AC=20;AN=36;BQB=0.916073;DP4=312,127,418,153;DP=1384;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.964916;SF=0,1,3,4,5,6,7,8,10,11,14,15,16,19,20,22,23,24;SGB=-0.693054;VDB=0.5939	GT:DP:DV:PL	0/1:53:28:255,0,255	0/1:49:25:255,0,255	.	0/1:55:30:255,0,255	0/1:55:29:255,0,255	0/1:73:29:255,0,255	0/1:50:25:255,0,255	1/1:61:61:255,184,0	0/1:42:25:255,0,255	.	0/1:51:22:255,0,255	0/1:61:37:255,0,255	.	.	0/1:60:27:255,0,255	0/1:57:31:255,0,255	1/1:63:63:255,190,0	.	.	0/1:50:25:255,0,255	0/1:58:26:255,0,255	.	0/1:33:17:255,0,255	0/1:70:38:255,0,255	0/1:69:33:255,0,255	A	G	2	16	Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3)	.	Neuromuscular disorder(CM151271)	ATG-ACG|Met2927Thr|c.8780T>C|p.M2927T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25380242&dopt=Abstract)	25380242|26004199|19564581|17886299|15689448|15563506|11992252|11709013|9536084|9520112|8817344|3348212|2022673|1689238	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	238277795	rs2646260	A	G	218.7	PASS	COL6A3	collagen, type VI, alpha 3	exonic	NM_004369,NM_057166,NM_057167	.	synonymous SNV	COL6A3:NM_057166:exon7:c.T2490C:p.I830I,COL6A3:NM_057167:exon9:c.T3693C:p.I1231I,COL6A3:NM_004369:exon10:c.T4311C:p.I1437I	ENST00000353578.4,ENST00000347401.3,ENST00000346358.4,ENST00000472056.1,ENST00000409809.1,ENST00000295550.4	.	2q37.3	.	.	.	.	.	rs2646260	CLINSIG=Uncertain significance\x2cBenign;CLNDBN=Congenital_muscular_dystrophy\x2cnot_specified;CLNACC=RCV000149961.1,RCV000080938.5;CLNDSDB=MedGen:ORPHA:SNOMED_CT\x2cMedGen;CLNDSDBID=C0699743:97242:240059009\x2cCN169374	.	0.303987	0.2956	0.388379	0.3471	0.2889	0.2928	0.284839385911	0.2992791875	.	.	.	.	.	.	.	.	-0.651	-1.987	.	.	AC=11;AN=20;BQB=0.971458;DP4=82,67,103,78;DP=413;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959159;SF=0,8,9,12,14,15,16,20,22,24;SGB=-0.692352;VDB=0.000238254	GT:DP:DV:PL	0/1:36:21:255,0,255	.	.	.	.	.	.	.	0/1:33:17:255,0,255	0/1:32:18:255,0,255	.	.	0/1:29:13:255,0,255	.	0/1:33:16:255,0,255	0/1:37:17:255,0,255	0/1:36:19:255,0,255	.	.	.	0/1:34:11:217,0,255	.	0/1:24:13:255,0,255	.	1/1:36:36:255,108,0	A	G	1	9	Bethlem myopathy 1, 158810 (3); Ullrich congenital muscular dystrophy 1, 254090 (3); Dystonia 27, 616411 (3)	.	Bethlem myopathy(CD1312497)	CTGCA^1436GACATtGTCTTTCTGA|c.4311delT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24271325&dopt=Abstract)	24271325|26004199|19564581|17886299|15689448|15563506|11992252|11709013|9536084|9520112|8817344|3348212|2022673|1689238	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	2	239155053	rs934945	C	T	201.33	PASS	PER2	period circadian clock 2	exonic	NM_022817	.	missense SNV	PER2:NM_022817:exon23:c.G3731A:p.G1244E	ENST00000254657.3,ENST00000456601.1,ENST00000254658.3	.	2q37.3	.	.	.	.	.	rs934945	.	.	0.265781	0.2639	0.17472	0.1406	0.2176	0.2977	0.252679915773	0.269231	0.94,T	0.008,B	0.02,B	1,P	0.886421,N	1.295,L	2.9,T	5.5081	1.224	1.428	.	2.88	AC=14;AN=24;BQB=0.646383;DP4=94,42,114,53;DP=418;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.150478;SF=2,4,5,8,10,13,17,18,19,20,21,22;SGB=-0.688148;VDB=0.239048	GT:DP:DV:PL	.	.	0/1:21:15:255,0,126	.	1/1:27:27:255,81,0	0/1:33:13:255,0,255	.	.	0/1:24:4:105,0,255	.	0/1:26:10:216,0,255	.	.	0/1:36:20:255,0,255	.	.	.	0/1:26:11:255,0,255	1/1:21:21:255,63,0	0/1:24:10:255,0,255	0/1:24:16:255,0,227	0/1:25:9:188,0,255	0/1:16:11:255,0,165	.	.	C	T	2	10	Advanced sleep phase syndrome, familial, 1, 604348 (3)	.	Diurnal preference traits, association with(CM1311754)	GGA-GAA|Gly1244Glu|c.3731G>A|p.G1244E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23969301&dopt=Abstract)	23969301|22767893|22080954|19917250|19477955|18487196|17599055|17218255|16983144|16554373|15746242|15665827|15608650|15269772|12483227|12372299|11441147|11395012|11389837|11302552|11232563|10807566|10617474|10408444|9428527|9427249|9205841	RHYTHMIC_PROCESS;CIRCADIAN_RHYTHM	.	.	KEGG_CIRCADIAN_RHYTHM_MAMMAL	PID_CIRCADIANPATHWAY	.	REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_CIRCADIAN_CLOCK	PS1,PS3,BA1
L	3	8775661	rs1008642	C	T	222.67	PASS	CAV3	caveolin 3	exonic	NM_001234,NM_033337	.	synonymous SNV	CAV3:NM_001234:exon1:c.C99T:p.N33N,CAV3:NM_033337:exon1:c.C99T:p.N33N	ENST00000478513.1,ENST00000397368.2,ENST00000472766.1,ENST00000343849.2	.	3p25.3	.	.	.	.	.	rs1008642	CLINSIG=Pathogenic\x2cnot provided|other|Benign;CLNDBN=Distal_myopathy\x2c_Tateyama_type\x2cnot_provided|not_specified|Cardiomyopathy;CLNACC=RCV000008786.2,RCV000024392.3|RCV000039807.9|RCV000157712.1;CLNDSDB=MedGen:OMIM\x2cMedGen|MedGen|Human_Phenotype_Ontology:MedGen;CLNDSDBID=C3280443:614321\x2cCN221809|CN169374|HP:0001638:CN001491	.	0.370432	0.372	0.371006	0.3431	0.3010	0.3999	0.412710811639	0.381009788462	.	.	.	.	.	.	.	.	0.008	-0.613	1.693161,14.37	.	AC=17;AN=30;BQB=0.969806;DP4=429,286,462,268;DP=2079;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.350805;SF=2,3,5,8,9,10,11,14,15,17,18,19,20,22,24;SGB=-0.693147;VDB=0.011624	GT:DP:DV:PL	.	.	0/1:112:47:255,0,255	0/1:104:46:255,0,255	.	0/1:151:49:255,0,255	.	.	1/1:85:85:255,255,0	0/1:71:34:255,0,255	0/1:109:57:255,0,255	0/1:108:41:255,0,255	.	.	0/1:98:39:255,0,255	0/1:82:37:255,0,255	.	0/1:75:36:255,0,255	0/1:85:41:255,0,255	0/1:108:51:255,0,255	0/1:108:38:255,0,255	.	0/1:40:20:255,0,255	.	1/1:109:109:255,255,0	C	T	2	13	Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling muscle disease, 606072 (3); Creatine phosphokinase, elevated serum, 123320 (3); Myopathy, distal, Tateyama type, 614321 (3); Cardiomyopathy, familial hypertrophic, 192600 (3); Long QT syndrome 9, 611818 (3)	.	Muscular dystrophy, limb girdle(CM043264)	AAC-AAG|Asn33Lys|c.99C>G|p.N33K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15564037&dopt=Abstract)	15564037|21610159|19584897|18930476|17275750|17060380|17039257|16247063|15888488|15668980|15580566|15314230|14672715|14663034|14645200|12966035|12939441|12666119|12557291|12082049|11805270|11756609|11532985|11431690|11251997|11159934|11115849|11001938|10931944|10746614|10464299|10386585|10227634|9537420|9536092|9325253|8933338|8567687|2705900|1146501	.	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;MEMBRANE_PART;BASEMENT_MEMBRANE;MEMBRANE;CYTOPLASM;BASAL_LAMINA;DYSTROPHIN_ASSOCIATED_GLYCOPROTEIN_COMPLEX;EXTRACELLULAR_REGION_PART;MACROMOLECULAR_COMPLEX;EXTRACELLULAR_MATRIX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_COMPLEX_BINDING;PROTEIN_C_TERMINUS_BINDING	KEGG_FOCAL_ADHESION	PID_PDGFRAPATHWAY	.	.	PS1,PS3,BA1
L	3	9798773	rs1052133	C	G	222.18	PASS	OGG1	8-oxoguanine DNA glycosylase	exonic	NM_002542,NM_016820	.	missense SNV	OGG1:NM_002542:exon7:c.C977G:p.S326C,OGG1:NM_016820:exon7:c.C994G:p.P332A	ENST00000449570.2,ENST00000339511.5,ENST00000302036.7,ENST00000302008.8,ENST00000349503.5,ENST00000302003.7,ENST00000383826.5,ENST00000344629.7	.	3p25.3	.	.	.	.	.	rs1052133	.	.	0.579734	0.5476	0.302117	0.2111	0.2721	0.5876	0.579734	0.590143987981	0.176,T	0.306,B	0.121,B	1,P	.	0.69,N	0.73,T	3.5612	-0.141	0.037	.	.	AC=31;AN=44;BQB=0.34302;DP4=328,65,710,145;DP=1629;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.625046;SF=0,2,3,4,5,6,7,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.885619	GT:DP:DV:PL	1/1:44:44:255,132,0	.	1/1:60:60:255,181,0	0/1:54:26:255,0,255	0/1:55:26:255,0,255	1/1:101:101:255,255,0	1/1:45:45:255,135,0	0/1:59:25:255,0,255	.	0/1:36:13:227,0,255	.	0/1:43:18:255,0,255	0/1:57:31:255,0,255	0/1:74:46:255,0,255	0/1:50:23:255,0,255	0/1:50:25:255,0,255	0/1:65:27:255,0,255	0/1:36:15:233,0,255	1/1:32:32:255,96,0	0/1:60:27:255,0,255	1/1:52:52:255,157,0	0/1:101:45:255,0,255	1/1:25:25:255,75,0	1/1:80:80:255,241,0	1/1:69:69:255,208,0	C	G	9	13	Renal cell carcinoma, clear cell, somatic, 144700 (3)	.	Lung cancer, susceptibility, association with(CM993185)	TCC-TGC|Ser326Cys|c.977C>G|p.S326C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10744126&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19351836&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20530453&dopt=Abstract)	10744126|19351836|20530453|18187655|17450122|17213818|16333523|15800616|10987279|10449904|9681819|9434942|9348312|9321410|9223306|9223305|9207108|9197244|9190902|9187114	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;BASE_EXCISION_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART	ENDODEOXYRIBONUCLEASE_ACTIVITY;DAMAGED_DNA_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;LYASE_ACTIVITY;HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;CARBON_OXYGEN_LYASE_ACTIVITY;DEOXYRIBONUCLEASE_ACTIVITY;ENDONUCLEASE_ACTIVITY;NUCLEASE_ACTIVITY;DNA_BINDING	KEGG_BASE_EXCISION_REPAIR	PID_TAP63PATHWAY	.	REACTOME_BASE_EXCISION_REPAIR;REACTOME_RESOLUTION_OF_AP_SITES_VIA_THE_MULTIPLE_NUCLEOTIDE_PATCH_REPLACEMENT_PATHWAY;REACTOME_BASE_FREE_SUGAR_PHOSPHATE_REMOVAL_VIA_THE_SINGLE_NUCLEOTIDE_REPLACEMENT_PATHWAY;REACTOME_DNA_REPAIR;REACTOME_RESOLUTION_OF_AP_SITES_VIA_THE_SINGLE_NUCLEOTIDE_REPLACEMENT_PATHWAY	PS1,PS3,BA1
L	3	9985656	rs3774207	C	T	208.14	PASS	CRELD1	cysteine-rich with EGF-like domains 1	exonic	NM_001031717	.	synonymous SNV	CRELD1:NM_001031717:exon11:c.C1119T:p.H373H	ENST00000397170.3,ENST00000383811.3,ENST00000489674.1,ENST00000452070.1,ENST00000326434.5	.	3p25.3	.	.	.	.	Score=722;Name="2926458:MIR(SINE)"	rs3774207	.	.	0.144518	0.1558	0.379992	0.4055	0.2785	0.1862	0.183001356815	0.170672759615	.	.	.	.	.	.	.	.	-0.697	-0.681	.	.	AC=17;AN=28;BQB=0.996422;DP4=116,43,136,70;DP=506;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.446439;SF=0,4,6,7,8,9,10,11,15,20,21,22,23,24;SGB=-0.692914;VDB=0.129045	GT:DP:DV:PL	1/1:25:25:255,75,0	.	.	.	0/1:30:12:255,0,255	.	1/1:28:28:255,84,0	0/1:30:14:255,0,255	1/1:31:31:255,93,0	0/1:27:14:255,0,255	0/1:27:14:255,0,255	0/1:14:5:181,0,255	.	.	.	0/1:20:9:241,0,255	.	.	.	.	0/1:25:12:255,0,255	0/1:36:16:255,0,255	0/1:21:10:233,0,249	0/1:27:6:155,0,255	0/1:24:10:255,0,255	C	T	3	11	{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3); Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)	.	Atrioventricular septal defect, association with(CM1211030)	CAC-CAT|His373His|c.1119C>T|p.H373H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22987595&dopt=Abstract)	22987595|23040494|17036335|15857420|12632326|12137942|11376440	.	.	.	.	.	.	.	PS1,PS3,BA1
L	3	12475557	rs3856806	C	T	222.42	PASS	PPARG	peroxisome proliferator-activated receptor gamma	exonic	NM_005037,NM_015869,NM_138711,NM_138712	.	synonymous SNV	PPARG:NM_005037:exon7:c.C1347T:p.H449H,PPARG:NM_015869:exon7:c.C1431T:p.H477H,PPARG:NM_138711:exon8:c.C1347T:p.H449H,PPARG:NM_138712:exon8:c.C1347T:p.H449H	ENST00000287820.6,ENST00000309576.6,ENST00000539812.1,ENST00000397012.2,ENST00000397000.1,ENST00000397010.2,ENST00000397026.2,ENST00000397015.2	.	3p25.2	.	.	Score=943;Name=V$USF_C	.	.	rs3856806	CLINSIG=Benign|Likely benign;CLNDBN=Glioma_susceptibility_1|not_specified;CLNACC=RCV000008615.3|RCV000118043.2;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C2750850:137800|CN169374	.	0.225914	0.2113	0.126597	0.1066	0.1340	0.2388	0.248085687596	0.227163795673	.	.	.	.	.	.	.	.	-0.008	-0.352	1.629077,14.01	.	AC=13;AN=24;BQB=0.889307;DP4=120,101,149,127;DP=644;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.843346;SF=5,7,8,9,10,12,13,14,18,19,20,23;SGB=-0.692976;VDB=0.151815	GT:DP:DV:PL	.	.	.	.	.	0/1:43:26:255,0,255	.	0/1:49:22:255,0,255	0/1:44:27:255,0,255	0/1:31:20:255,0,249	0/1:44:22:255,0,255	.	0/1:38:21:255,0,255	0/1:40:13:255,0,255	0/1:37:19:255,0,255	.	.	.	0/1:50:30:255,0,255	0/1:43:17:255,0,255	1/1:43:43:255,129,0	.	.	0/1:35:16:255,0,255	.	C	T	1	11	Obesity, severe, 601665 (3); [Obesity, resistance to] (3); Insulin resistance, severe, digenic, 604367 (3); Lipodystrophy, familial partial, type 3, 604367 (3); Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3)	.	Increased plasma leptin levels in obesity, association(CM994587)	CAC-CAT|His477His|c.1431C>T|p.H477H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9467001&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17141766&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22575725&dopt=Abstract)	9467001|17141766|22575725|25554785|25409143|22722857|22522926|22304921|21892191|21532596|21532595|21307849|20651683|20200519|19561094|19043829|18801968|18234854|18059282|17652179|17515919|17463249|17463248|17463246|17356052|17299075|17213274|16822823|16778057|16127449|16007095|15797964|15662013|15562396|15562023|15367918|15356014|15254591|15254581|15249658|15232616|15175761|15067317|15057233|14691478|14671186|14660788|14625542|14616762|14614508|14569127|14517292|14506127|12974743|12970322|12960963|12917338|12881480|12821117|12754253|12740443|12727991|12714563|12679463|12663460|12524541|12479814|12453919|12401792|12379847|12370429|12213872|12161548|12161538|12118251|12110166|12096349|12077117|12037571|11909955|11884400|11879638|11849312|11836319|11788685|11782442|11782441|11684010|11600579|11514592|11511919|11443177|11172721|11158005|11095470|11021798|10984506|10973253|10958784|10882139|10851250|10843190|10843155|10839530|10690291|10675354|10622252|10555139|10549292|10549291|10549290|10523018|10394368|10381354|10364535|9918859|9821958|9806549|9792554|9753710|9694545|9660931|9636198|9568716|9568715|9467001|9425261|9228052|9168928|9153284|9065481|8702406|8001151|7926726|7799943|7787419|7768881	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_NUTRIENT;TRANSCRIPTION_DNA_DEPENDENT;RESPONSE_TO_EXTRACELLULAR_STIMULUS;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;RESPONSE_TO_NUTRIENT_LEVELS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_CELL_DIFFERENTIATION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_PPAR_SIGNALING_PATHWAY;KEGG_HUNTINGTONS_DISEASE;KEGG_PATHWAYS_IN_CANCER;KEGG_THYROID_CANCER	PID_WNT_NONCANONICAL_PATHWAY;PID_NFAT_TFPATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	PS1,PS3,BA1
L	3	14187449	rs2228001	G	T	209.19	PASS	XPC	xeroderma pigmentosum, complementation group C	exonic	NM_004628	.	missense SNV	XPC:NM_004628:exon16:c.C2815A:p.Q939K	ENST00000608606.1,ENST00000420253.1,ENST00000449060.2,ENST00000285021.7,ENST00000601399.1,ENST00000428681.3	.	3p25.1	.	.	.	.	.	rs2228001	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000170436.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.666113	0.6667	0.684704	0.6421	0.6325	0.6449	0.666113	0.674278829327	1.0,T	0.0,B	0.0,B	0.999997,P	0.000004,N	-2.455,N	1.82,T	7.9245	0.882	2.904	1.249726,12.01	4.24	AC=30;AN=42;BQB=0.261887;DP4=176,27,357,66;DP=863;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0554176;SF=0,1,2,3,5,6,7,8,9,11,12,13,15,16,17,18,19,20,22,23,24;SGB=-0.636426;VDB=0.770878	GT:DP:DV:PL	0/1:23:7:108,0,255	1/1:25:25:255,75,0	1/1:34:34:255,102,0	0/1:25:12:255,0,255	.	0/1:40:21:255,0,255	0/1:28:18:255,0,154	1/1:25:25:255,75,0	0/1:27:12:220,0,255	1/1:20:20:255,60,0	.	1/1:30:30:255,90,0	1/1:26:26:255,78,0	0/1:35:18:255,0,255	.	0/1:38:22:255,0,255	1/1:28:28:255,84,0	0/1:29:14:231,0,255	0/1:23:7:170,0,255	0/1:31:10:227,0,255	0/1:38:18:255,0,255	.	1/1:18:18:255,54,0	1/1:34:34:255,102,0	0/1:49:24:255,0,255	G	T	9	12	Xeroderma pigmentosum, group C, 278720 (3)	.	DNA repair rate, association with(CM070359)	AAG-CAG|Lys939Gln|c.2815A>C|p.K939Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14729591&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20193233&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23819639&dopt=Abstract)	14729591|20193233|23819639|19478817|17882165|16141330|14662655|12505994|11511374|11511294|11487565|11121128|10831608|10766188|10681431|10447254|10029060|9804340|9734359|8808275|8298653|8168482|8088800|7675084|3774554|3480511|1660831|1522891	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;CELL_CYCLE_CHECKPOINT_GO_0000075;RESPONSE_TO_STRESS;NUCLEOTIDE_EXCISION_REPAIR;CELL_CYCLE_GO_0007049;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE	.	DAMAGED_DNA_BINDING;SINGLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_DNA_REPAIR;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER	PS1,PS3,BA1
L	3	14199887	rs2228000	G	A	223.5	PASS	XPC	xeroderma pigmentosum, complementation group C	exonic	NM_004628	.	missense SNV	XPC:NM_004628:exon9:c.C1496T:p.A499V	ENST00000449060.2,ENST00000285021.7	.	3p25.1	.	.	.	.	.	rs2228000	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000122343.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.387043	0.4127	0.233027	0.2006	0.2378	0.3576	0.355283220521	0.370192182692	0.318,T	0.027,B	0.081,B	1,P	0.527757,N	1.14,L	1.24,T	4.6128	-0.927	0.271	.	.	AC=20;AN=32;BQB=0.903885;DP4=183,205,275,258;DP=1213;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.94696;SF=0,1,2,5,7,8,9,11,12,13,15,16,17,20,22,24;SGB=-0.692914;VDB=0.47348	GT:DP:DV:PL	0/1:63:25:255,0,255	0/1:66:29:255,0,255	1/1:49:49:255,148,0	.	.	0/1:68:32:255,0,255	.	0/1:68:36:255,0,255	0/1:60:22:255,0,255	1/1:44:44:255,132,0	.	1/1:46:46:255,138,0	0/1:48:22:255,0,255	0/1:63:38:255,0,255	.	0/1:65:35:255,0,255	0/1:65:29:255,0,255	0/1:48:23:255,0,255	.	.	0/1:64:33:255,0,255	.	1/1:33:33:255,99,0	.	0/1:71:37:255,0,255	G	A	4	12	Xeroderma pigmentosum, group C, 278720 (3)	.	Lung cancer, association with(CM057944)	GCG-GTG|Ala499Val|c.1496C>T|p.A499V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15700316&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20193233&dopt=Abstract)	15700316|24728327|20193233|19478817|17882165|16141330|14662655|12505994|11511374|11511294|11487565|11121128|10831608|10766188|10681431|10447254|10029060|9804340|9734359|8808275|8298653|8168482|8088800|7675084|3774554|3480511|1660831|1522891	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;CELL_CYCLE_CHECKPOINT_GO_0000075;RESPONSE_TO_STRESS;NUCLEOTIDE_EXCISION_REPAIR;CELL_CYCLE_GO_0007049;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE	.	DAMAGED_DNA_BINDING;SINGLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_DNA_REPAIR;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER	PS1,PS3,BA1
L	3	33055721	rs4302331	A	G	228	PASS	GLB1	galactosidase, beta 1	exonic	NM_000404,NM_001079811,NM_001135602,NM_001317040	.	missense SNV	GLB1:NM_001135602:exon12:c.T1168C:p.C390R,GLB1:NM_000404:exon15:c.T1561C:p.C521R,GLB1:NM_001079811:exon15:c.T1471C:p.C491R,GLB1:NM_001317040:exon16:c.T1705C:p.C569R	ENST00000307377.8,ENST00000445488.2,ENST00000307363.5,ENST00000497796.1,ENST00000399402.3	.	3p22.3	.	.	.	.	.	rs4302331	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153326.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	1	1	0.927117	0.9326	0.9800	1	0.999234548239	1.0	0.56,T	0.0,B	0.0,B	1,P	0.521708,N	.	-3.08,D	1.7865	-0.231	0.347	.	.	AC=50;AN=50;DP4=0,0,532,390;DP=1211;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.297621	GT:DP:DV:PL	1/1:32:32:255,96,0	1/1:31:31:255,93,0	1/1:36:36:255,108,0	1/1:41:41:255,123,0	1/1:37:37:255,111,0	1/1:46:46:255,138,0	1/1:37:37:255,111,0	1/1:41:41:255,123,0	1/1:37:37:255,111,0	1/1:34:34:255,102,0	1/1:36:36:255,108,0	1/1:29:29:255,87,0	1/1:30:30:255,90,0	1/1:44:44:255,132,0	1/1:33:33:255,99,0	1/1:44:44:255,132,0	1/1:33:33:255,99,0	1/1:23:23:255,69,0	1/1:28:28:255,84,0	1/1:43:43:255,129,0	1/1:46:46:255,138,0	1/1:54:54:255,163,0	1/1:21:21:255,63,0	1/1:44:44:255,132,0	1/1:42:42:255,126,0	A	G	25	0	GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II, 230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3)	.	Gangliosidosis GM1(CM051080)	CGC-TGC|Arg521Cys|c.1561C>T|p.R521C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15714521&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15714521&dopt=Abstract)	15714521|20981092|19917257|17661814|17309651|14676316|12644936|11511921|11032334|10861297|10841812|10841810|10737981|9883849|9497360|9063740|8922281|8652017|8500799|8213816|8199591|8198123|7693577|7610770|7586649|6803586|6791574|6778205|6777095|5120520|3925555|3921454|3143362|3137147|2511208|2125250|1928092|1909089|1907800|1750516|1606711|1487238|1353343|414740|414365|113895|110522	.	.	HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_GALACTOSE_METABOLISM;KEGG_OTHER_GLYCAN_DEGRADATION;KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_SPHINGOLIPID_METABOLISM;KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GANGLIO_SERIES;KEGG_LYSOSOME	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_HS_GAG_DEGRADATION;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM;REACTOME_KERATAN_SULFATE_DEGRADATION;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	3	33138549	rs7637099	G	A	225.43	PASS	GLB1	galactosidase, beta 1	exonic	NM_000404,NM_001135602,NM_001317040	.	missense SNV	GLB1:NM_000404:exon1:c.C29T:p.P10L,GLB1:NM_001135602:exon1:c.C29T:p.P10L,GLB1:NM_001317040:exon1:c.C29T:p.P10L	ENST00000307377.8,ENST00000445488.2,ENST00000307363.5	CpG: 70	3p22.3	.	.	.	.	.	rs7637099	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000078711.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.493355	0.4891	0.431909	0.4740	0.5625	0.5149	0.453292225115	0.480768858173	0.002,D	0.0,B	0.0,B	1,P	0.040312,N	0.895,L	-4.21,D	4.8721	-0.158	0.197	1.406120,12.82	.	AC=22;AN=28;BQB=0.80343;DP4=194,70,630,262;DP=1697;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.703507;SF=1,3,4,6,8,9,10,11,13,16,20,21,22,24;SGB=-0.693147;VDB=0.0137243	GT:DP:DV:PL	.	1/1:76:76:255,229,0	.	1/1:63:63:255,190,0	0/1:82:37:255,0,255	.	0/1:83:36:255,0,255	.	1/1:75:75:255,226,0	1/1:53:53:255,160,0	0/1:94:44:255,0,255	0/1:52:24:255,0,255	.	1/1:104:104:255,255,0	.	.	1/1:79:79:255,238,0	.	.	.	1/1:73:73:255,220,0	1/1:157:157:255,255,0	0/1:42:19:255,0,255	.	0/1:123:52:255,0,255	G	A	8	6	GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II, 230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3)	.	Gangliosidosis GM1(CM055955)	CCT-CTT|Pro10Leu|c.29C>T|p.P10L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15791924&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21228398&dopt=Abstract)	15791924|20981092|21228398|19917257|17661814|17309651|14676316|12644936|11511921|11032334|10861297|10841812|10841810|10737981|9883849|9497360|9063740|8922281|8652017|8500799|8213816|8199591|8198123|7693577|7610770|7586649|6803586|6791574|6778205|6777095|5120520|3925555|3921454|3143362|3137147|2511208|2125250|1928092|1909089|1907800|1750516|1606711|1487238|1353343|414740|414365|113895|110522	.	.	HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_GALACTOSE_METABOLISM;KEGG_OTHER_GLYCAN_DEGRADATION;KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_SPHINGOLIPID_METABOLISM;KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GANGLIO_SERIES;KEGG_LYSOSOME	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_HS_GAG_DEGRADATION;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM;REACTOME_KERATAN_SULFATE_DEGRADATION;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	3	38645420	rs1805124	T	C	222	PASS	SCN5A	sodium channel, voltage gated, type V alpha subunit	exonic	NM_000335,NM_001099404,NM_001099405,NM_001160160,NM_001160161,NM_198056	.	missense SNV	SCN5A:NM_000335:exon12:c.A1673G:p.H558R,SCN5A:NM_001099404:exon12:c.A1673G:p.H558R,SCN5A:NM_001099405:exon12:c.A1673G:p.H558R,SCN5A:NM_001160160:exon12:c.A1673G:p.H558R,SCN5A:NM_001160161:exon12:c.A1673G:p.H558R,SCN5A:NM_198056:exon12:c.A1673G:p.H558R	ENST00000423572.2,ENST00000449557.2,ENST00000413689.1,ENST00000451551.2,ENST00000450102.2,ENST00000455624.2,ENST00000333535.4,ENST00000443581.1,ENST00000414099.2,ENST00000425664.1	.	3p22.2	.	.	Score=817;Name=V$GFI1_01	.	.	rs1805124	CLINSIG=Pathogenic|Benign|Benign;CLNDBN=Progressive_familial_heart_block_type_1A|not_specified|not_provided;CLNACC=RCV000010000.2|RCV000041604.4|RCV000058440.2;CLNDSDB=MedGen:OMIM|MedGen|MedGen;CLNDSDBID=C1879286:113900|CN169374|CN221809	.	0.0980066	0.1012	0.230431	0.2463	0.2217	0.0993	0.101837847779	0.092548053125	1.0,T	0.0,B	0.0,B	0.997772,P	0.009278,N	-2.58,N	-3.39,D	15.5745	0.109	1.657	.	2.44	AC=2;AN=4;BQB=0.747845;DP4=44,29,44,37;DP=208;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.903655;SF=18,20;SGB=-0.693021;VDB=0.561109	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:27:255,0,255	.	0/1:93:54:255,0,255	.	.	.	.	T	C	0	2	Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3)	.	Phenotype modifier, association with(CM031355)	CAC-CGC|His558Arg|c.1673A>G|p.H558R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12569159&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15851227&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15599693&dopt=Abstract)	12569159|15851227|15599693|25368329|22999724|22766342|22710484|21167004|19412328|18599870|18451998|18378609|18088563|18071069|16922724|16707561|16684018|16453024|15998690|15998690|15996170|15851227|15840476|15689442|15671429|15579534|15466643|15338453|15184283|15121794|15051636|14523039|12676817|12569159|12522116|12471205|12417563|12193783|11997281|11983875|11972032|11889015|11823453|11807557|11804990|11748104|11710892|11533705|11410597|11234013|10973849|10940383|10911008|10772658|10690282|10618304|10590249|10532948|10471492|10448858|10377081|9521325|9506831|9120016|8917568|8661019|8541846|7956363|7889574|7651517|3953067|1309946	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;REGULATION_OF_HEART_CONTRACTION;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ION_TRANSPORT;SYSTEM_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	PS1,PS3,BA1
L	3	38647642	rs41312433	G	T	212	PASS	SCN5A	sodium channel, voltage gated, type V alpha subunit	splicing	NM_000335,NM_001099404,NM_001099405,NM_001160160,NM_001160161,NM_198056	NM_000335:exon10:c.1141-3C>A;NM_001099404:exon10:c.1141-3C>A;NM_001099405:exon10:c.1141-3C>A;NM_001160160:exon10:c.1141-3C>A;NM_001160161:exon10:c.1141-3C>A;NM_198056:exon10:c.1141-3C>A	.	.	ENST00000423572.2,ENST00000449557.2,ENST00000413689.1,ENST00000451551.2,ENST00000450102.2,ENST00000455624.2,ENST00000333535.4,ENST00000443581.1,ENST00000414099.2,ENST00000425664.1	.	3p22.2	.	.	.	.	.	rs41312433	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000041595.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0913621	0.0972	0.151158	0.1664	0.1722	0.0956	0.0913621	0.0865384305288	.	.	.	.	.	.	.	.	2.555	3.705	1.712521,14.48	4.87	AC=2;AN=4;BQB=0.862492;DP4=9,17,6,20;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.93008;SF=18,20;SGB=-0.680642;VDB=0.31429	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:12:235,0,255	.	0/1:27:14:255,0,255	.	.	.	.	G	T	0	2	Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3)	.	Longer QT interval, association with(CS057601)	IVS10 as C-A -3|c.1141-3C>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16132053&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15599693&dopt=Abstract)	16132053|15599693|25368329|22999724|22766342|22710484|21167004|19412328|18599870|18451998|18378609|18088563|18071069|16922724|16707561|16684018|16453024|15998690|15998690|15996170|15851227|15840476|15689442|15671429|15579534|15466643|15338453|15184283|15121794|15051636|14523039|12676817|12569159|12522116|12471205|12417563|12193783|11997281|11983875|11972032|11889015|11823453|11807557|11804990|11748104|11710892|11533705|11410597|11234013|10973849|10940383|10911008|10772658|10690282|10618304|10590249|10532948|10471492|10448858|10377081|9521325|9506831|9120016|8917568|8661019|8541846|7956363|7889574|7651517|3953067|1309946	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;REGULATION_OF_HEART_CONTRACTION;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ION_TRANSPORT;SYSTEM_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	PS1,PS3,BA1
L	3	38766675	rs6795970	A	G	227.28	PASS	SCN10A	sodium channel, voltage gated, type X alpha subunit	exonic	NM_001293306,NM_001293307,NM_006514	.	missense SNV	SCN10A:NM_001293307:exon16:c.T2924C:p.V975A,SCN10A:NM_001293306:exon17:c.T3215C:p.V1072A,SCN10A:NM_006514:exon17:c.T3218C:p.V1073A	ENST00000449082.2	.	3p22.2	.	.	.	.	.	rs6795970	.	Electrocardiographic conduction measures,Electrocardiographic traits	0.833887	0.8194	0.757987	0.7025	0.6586	0.8436	0.842266540582	0.834134692308	1.0,T	0.0,B	0.0,B	1,P	0.000002,N	0.55,N	-3.69,D	0.783	-1.287	-0.830	.	.	AC=47;AN=50;BQB=0.273758;DP4=59,16,611,174;DP=1169;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.322375;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692976;VDB=0.590781	GT:DP:DV:PL	1/1:26:26:255,78,0	1/1:29:29:255,87,0	1/1:38:38:255,114,0	0/1:34:14:255,0,255	1/1:24:24:255,72,0	1/1:51:51:255,154,0	1/1:23:23:255,69,0	1/1:40:40:255,120,0	1/1:37:37:255,111,0	1/1:24:24:255,72,0	1/1:33:33:255,99,0	1/1:36:36:255,108,0	1/1:24:24:255,72,0	1/1:36:36:255,108,0	1/1:25:25:255,75,0	1/1:35:35:255,105,0	1/1:38:38:255,114,0	1/1:19:19:255,57,0	1/1:42:42:255,126,0	1/1:39:39:255,117,0	1/1:41:41:255,123,0	0/1:56:29:255,0,255	1/1:15:15:255,45,0	1/1:46:46:255,138,0	0/1:49:21:255,0,255	A	G	22	3	Episodic pain syndrome, familial, 2, 615551 (3)	23463857(5E-27);20062063(4E-9);20062063(1E-58);20062061(3E-15)	QRS interval, association with(CM108213)	GTC-GCC|Val1073Ala|c.3218T>C|p.V1073A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21076409&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25691538&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25691538&dopt=Abstract)	21076409|25691538|24759321|23965627|23115331|21903816|18669863|17568746|12050667|10448219|9839820|8626372|8538791	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	3	38805069	rs74717885	T	C	191.57	PASS	SCN10A	sodium channel, voltage gated, type X alpha subunit	exonic	NM_001293306,NM_001293307,NM_006514	.	missense SNV	SCN10A:NM_001293306:exon5:c.A618G:p.I206M,SCN10A:NM_001293307:exon5:c.A618G:p.I206M,SCN10A:NM_006514:exon5:c.A618G:p.I206M	ENST00000449082.2	.	3p22.2	.	.	.	.	.	rs74717885	.	.	0.167774	0.1587	0.0419329	0.0116	0.0256	0.1489	0.138590882083	0.169471079327	0.01,D	0.023,B	0.008,B	0.999982,P	0.655756,N	1.185,L	-4.89,D	1.4776	-0.206	-0.651	1.807160,15.03	.	AC=8;AN=14;BQB=0.982906;DP4=25,33,31,31;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993288;SF=2,3,13,18,19,20,24;SGB=-0.686358;VDB=0.024151	GT:DP:DV:PL	.	.	1/1:14:14:255,42,0	0/1:28:12:255,0,255	.	.	.	.	.	.	.	.	.	0/1:14:7:230,0,187	.	.	.	.	0/1:17:6:161,0,255	0/1:17:7:227,0,237	0/1:22:9:194,0,255	.	.	.	0/1:8:7:248,0,13	T	C	1	6	Episodic pain syndrome, familial, 2, 615551 (3)	.	Brugada syndrome(CM147566)	ATA-ATG|Ile206Met|c.618A>G|p.I206M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24998131&dopt=Abstract)	24998131|24759321|23965627|23115331|21903816|18669863|17568746|12050667|10448219|9839820|8626372|8538791	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	3	93593119	rs6123	T	C	206.88	PASS	PROS1	protein S (alpha)	exonic	NM_000313,NM_001314077	.	synonymous SNV	PROS1:NM_000313:exon15:c.A2001G:p.P667P,PROS1:NM_001314077:exon16:c.A2097G:p.P699P	ENST00000394236.3,ENST00000407433.1	.	3q11.1	.	.	.	Score=0.948912;Name=chr3:90246336	.	rs6123	.	.	0.548173	0.5675	0.385184	0.3212	0.4268	0.5724	0.535987762634	0.567307783654	.	.	.	.	.	.	.	.	0.001	-0.726	.	.	AC=21;AN=34;BQB=0.967216;DP4=62,23,135,55;DP=392;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.967216;MQSB=0.666667;RPB=0.927743;SF=1,2,4,6,7,8,9,10,11,12,13,15,16,18,19,20,21;SGB=-0.651104;VDB=0.85452	GT:DP:DV:PL	.	0/1:14:8:234,0,206	0/1:9:6:209,0,79	.	0/1:14:9:245,0,163	.	0/1:21:13:255,0,206	0/1:19:12:255,0,171	0/1:19:11:255,0,221	0/1:8:7:157,0,13	1/1:14:14:255,42,0	1/1:14:14:255,42,0	0/1:13:7:205,0,174	0/1:11:7:220,0,128	.	0/1:21:11:255,0,248	0/1:23:11:239,0,255	.	1/1:20:20:255,60,0	0/1:12:10:255,0,56	1/1:18:18:255,54,0	0/1:25:12:255,0,255	.	.	.	T	C	4	13	Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3); Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)	.	Reduced plasma Protein S(CM994426)	CCA-CCG|Pro667Pro|c.2001A>G|p.P667P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10494768&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17157360&dopt=Abstract)	10494768|17157360|21172841|20484936|19729839|19567881|19466456|15147381|12447359|10447256|10063989|9657428|8298131|8146182|8113388|7545463|6454142|3467362|2974696|2961379|2944113|2895503|2829367|2526663|2521801|2231208|2148112|2148110|2143091|1833851|1534488|1531628	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_AMI_PATHWAY;BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GAMMA_CARBOXYLATION_TRANSPORT_AND_AMINO_TERMINAL_CLEAVAGE_OF_PROTEINS;REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_COMMON_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_HEMOSTASIS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	113890815	rs6280	C	T	216.71	PASS	DRD3	dopamine receptor D3	exonic	NM_000796,NM_001282563,NM_001290809,NM_033663	.	missense SNV	DRD3:NM_000796:exon2:c.G25A:p.G9S,DRD3:NM_033663:exon2:c.G25A:p.G9S,DRD3:NM_001282563:exon3:c.G25A:p.G9S,DRD3:NM_001290809:exon3:c.G25A:p.G9S	ENST00000295881.7,ENST00000460779.1,ENST00000467632.1,ENST00000383673.2	.	3q13.31	.	.	.	.	.	rs6280	CLINSIG=other|other;CLNDBN=Schizophrenia\x2c_susceptibility_to|Essential_tremor\x2c_susceptibility_to;CLNACC=RCV000018257.2|RCV000018258.2;CLNDSDB=.|.;CLNDSDBID=.|.	.	0.667774	0.6935	0.513578	0.5338	0.6568	0.7087	0.681470196018	0.669471079327	0.706,T	0.0,B	0.0,B	1,P	0.368541,N	.	-0.52,T	9.5709	-0.171	-0.099	.	.	AC=38;AN=48;BQB=0.524993;DP4=69,40,268,190;DP=820;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.910098;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24;SGB=-0.693136;VDB=0.641265	GT:DP:DV:PL	1/1:35:35:255,105,0	1/1:25:25:255,75,0	1/1:16:16:255,48,0	1/1:25:25:255,75,0	0/1:22:13:255,0,247	0/1:23:14:255,0,255	0/1:20:6:168,0,255	1/1:21:21:255,63,0	0/1:17:11:255,0,160	0/1:26:13:255,0,255	0/1:30:17:255,0,255	1/1:24:24:255,72,0	0/1:18:8:194,0,255	1/1:25:25:255,75,0	1/1:22:22:255,66,0	.	0/1:28:15:255,0,255	0/1:18:8:194,0,234	1/1:23:23:255,69,0	0/1:24:12:255,0,255	1/1:24:24:255,72,0	1/1:38:38:255,114,0	1/1:12:12:255,36,0	1/1:26:26:255,78,0	1/1:25:25:255,75,0	C	T	14	10	{Schizophrenia, susceptibility to}, 181500 (3); {Essential tremor, susceptibility to}, 190300 (3)	.	Tardive dyskinesia in schizophrenia, association(CM033372)	AGC-GGC|Ser9Gly|c.25A>G|p.S9G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12673575&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10697826&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19645064&dopt=Abstract)	12673575|10697826|19645064|21097933|17339592|17332411|16809426|16650084|12524541|11673801|11333982|11149951|10719162|10432116|9691085|9514583|8700864|8411064|8225313|8098068|1975644|1916765|1362221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BEHAVIOR;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	3	122003769	rs1042636	A	G	224.84	PASS	CASR	calcium-sensing receptor	exonic	NM_000388,NM_001178065	.	missense SNV	CASR:NM_000388:exon7:c.A2968G:p.R990G,CASR:NM_001178065:exon7:c.A2998G:p.R1000G	ENST00000498619.1,ENST00000296154.5,ENST00000490131.1	.	3q21.1	.	.	.	.	.	rs1042636	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000179296.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.5299	0.5198	0.20647	0.0629	0.1451	0.5316	0.512250946401	0.530047896635	0.002,D	0.051,B	0.319,B	0.0146613,P	0.000022,D	1.735,L	-2.52,D	11.8665	1.004	2.919	2.338055,18.42	3.26	AC=28;AN=38;BQB=0.751641;DP4=278,180,608,393;DP=1989;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.858256;SF=1,2,4,5,6,8,9,10,11,12,14,15,16,17,18,19,20,22,23;SGB=-0.69312;VDB=0.264844	GT:DP:DV:PL	.	0/1:68:32:255,0,255	1/1:82:82:255,247,0	.	0/1:87:46:255,0,255	0/1:123:54:255,0,255	1/1:60:60:255,181,0	.	1/1:71:71:255,214,0	1/1:67:67:255,202,0	1/1:73:73:255,220,0	1/1:66:66:255,199,0	0/1:60:32:255,0,255	.	0/1:73:30:255,0,255	0/1:75:27:255,0,255	1/1:72:72:255,217,0	1/1:65:65:255,196,0	0/1:79:36:255,0,255	0/1:95:43:255,0,255	0/1:89:46:255,0,255	.	1/1:49:49:255,148,0	0/1:105:50:255,0,255	.	A	G	9	10	Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3)	.	Colorectal adenoma, risk, association with(CM044584)	AGG-GGG|Arg990Gly|c.2968A>G|p.R990G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15598778&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17062884&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23946278&dopt=Abstract)	15598778|17062884|23946278|23143333|22422767|20290361|18756473|17698911|17473068|17048213|17018660|16608894|16598859|16382241|15879434|15579740|15572418|15531522|15347804|15292296|15241791|15005845|14641934|12915654|12671052|12671051|12574188|12351573|12241879|12191970|12107202|12050233|12036954|11701698|11668634|11231970|11161843|11152759|11013439|10843194|10770217|10713061|10487661|10468915|10352095|10023897|9920108|9661634|9253359|9253358|9109436|9011580|8813042|8733126|8698326|8675635|8597637|8269505|8255296|8132750|7955463|7916660|7874174|7808841|7791841|7759551|7726161|7717399|7673400|7493018|7054696|6543841|6468429|5013415|2116665	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;SKELETAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;TISSUE_DEVELOPMENT;BEHAVIOR;DETECTION_OF_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DETECTION_OF_CHEMICAL_STIMULUS;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;TISSUE_REMODELING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPASE_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	.	PID_ECADHERIN_KERATINOCYTE_PATHWAY	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	3	122003832	rs1801726	G	C	227.52	PASS	CASR	calcium-sensing receptor	exonic	NM_000388,NM_001178065	.	missense SNV	CASR:NM_000388:exon7:c.G3031C:p.E1011Q,CASR:NM_001178065:exon7:c.G3061C:p.E1021Q	ENST00000498619.1,ENST00000296154.5,ENST00000490131.1	.	3q21.1	.	.	.	.	.	rs1801726	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000152934.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.98505	0.9802	0.924121	0.9178	0.9446	0.9835	0.978560370597	0.984375204327	1.0,T	0.0,B	0.0,B	0.999999,P	0.000354,N	.	-2.35,D	12.5539	1.476	1.173	.	5.79	AC=48;AN=50;BQB=0.964875;DP4=49,36,921,801;DP=2299;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.964875;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.132177	GT:DP:DV:PL	1/1:70:70:255,211,0	1/1:60:60:255,181,0	1/1:69:69:255,208,0	1/1:67:67:255,202,0	1/1:73:73:255,220,0	1/1:102:102:255,255,0	1/1:57:57:255,172,0	0/1:83:48:255,0,255	1/1:61:61:255,184,0	1/1:56:56:255,169,0	1/1:71:71:255,214,0	1/1:64:64:255,193,0	1/1:59:59:255,178,0	1/1:77:77:255,232,0	1/1:61:61:255,184,0	1/1:62:62:255,187,0	1/1:61:61:255,184,0	1/1:48:48:255,144,0	1/1:68:68:255,205,0	1/1:85:85:255,255,0	1/1:88:88:255,255,0	1/1:132:132:255,255,0	1/1:44:44:255,132,0	0/1:90:40:255,0,255	1/1:99:99:255,255,0	G	C	23	2	Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3)	.	Increased blood ionised calcium level(CM045983)	CAG-GAG|Gln1011Glu|c.3031C>G|p.Q1011E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15531522&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17054460&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20602573&dopt=Abstract)	15531522|17054460|20602573|23143333|22422767|20290361|18756473|17698911|17473068|17048213|17018660|16608894|16598859|16382241|15879434|15579740|15572418|15531522|15347804|15292296|15241791|15005845|14641934|12915654|12671052|12671051|12574188|12351573|12241879|12191970|12107202|12050233|12036954|11701698|11668634|11231970|11161843|11152759|11013439|10843194|10770217|10713061|10487661|10468915|10352095|10023897|9920108|9661634|9253359|9253358|9109436|9011580|8813042|8733126|8698326|8675635|8597637|8269505|8255296|8132750|7955463|7916660|7874174|7808841|7791841|7759551|7726161|7717399|7673400|7493018|7054696|6543841|6468429|5013415|2116665	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;SKELETAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;TISSUE_DEVELOPMENT;BEHAVIOR;DETECTION_OF_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DETECTION_OF_CHEMICAL_STIMULUS;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;TISSUE_REMODELING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPASE_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	.	PID_ECADHERIN_KERATINOCYTE_PATHWAY	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	3	123457893	rs9840993	G	A	227.5	PASS	MYLK	myosin light chain kinase	exonic	NM_053025,NM_053026,NM_053027,NM_053028	.	missense SNV	MYLK:NM_053025:exon7:c.C439T:p.P147S,MYLK:NM_053026:exon7:c.C439T:p.P147S,MYLK:NM_053027:exon7:c.C439T:p.P147S,MYLK:NM_053028:exon7:c.C439T:p.P147S	ENST00000360772.3,ENST00000360304.3,ENST00000346322.5,ENST00000475616.1,ENST00000359169.1	.	3q21.1	.	.	.	.	.	rs9840993	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000179991.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.953488	0.9435	0.85623	0.8724	0.9445	0.9383	0.956355209801	0.949518841346	0.247,T	0.111,B	0.291,B	0.999285,P	.	0.895,L	-0.33,T	11.4296	-0.067	2.802	.	.	AC=46;AN=48;BQB=0.405382;DP4=47,21,787,448;DP=1812;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.876746;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.0664427	GT:DP:DV:PL	1/1:39:39:255,117,0	1/1:36:36:255,108,0	1/1:53:53:255,160,0	1/1:54:54:255,163,0	1/1:57:57:255,172,0	0/1:77:43:255,0,255	1/1:64:64:255,193,0	1/1:53:53:255,160,0	0/1:63:29:255,0,255	1/1:57:57:255,172,0	.	1/1:46:46:255,138,0	1/1:51:51:255,154,0	1/1:54:54:255,163,0	1/1:43:43:255,129,0	1/1:52:52:255,157,0	1/1:67:67:255,202,0	1/1:46:46:255,138,0	1/1:46:46:255,138,0	1/1:46:46:255,138,0	1/1:45:45:255,135,0	1/1:69:69:255,208,0	1/1:24:24:255,72,0	1/1:82:82:255,247,0	1/1:79:79:255,238,0	G	A	22	2	Aortic aneurysm, familial thoracic 7, 613780 (3)	.	Acute lung injury, in major trauma, association with(CM088407)	CCA-TCA|Pro147Ser|c.439C>T|p.P147S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18828194&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17266121&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25271083&dopt=Abstract)	18828194|17266121|25271083|21055718|11346659|11306802|10536370|10198165|9160829|8575746	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_FOCAL_ADHESION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_AURORA_B_PATHWAY	BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_RAC1_PATHWAY;BIOCARTA_RHO_PATHWAY	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	PS1,PS3,BA1
L	3	128204951	rs2335052	C	T	223.41	PASS	GATA2	GATA binding protein 2	exonic	NM_001145661,NM_001145662,NM_032638	.	missense SNV	GATA2:NM_001145662:exon3:c.G490A:p.A164T,GATA2:NM_032638:exon3:c.G490A:p.A164T,GATA2:NM_001145661:exon4:c.G490A:p.A164T	ENST00000430265.2,ENST00000341105.2,ENST00000487848.1	.	3q21.3	.	.	.	.	.	rs2335052	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000121149.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.383721	0.378	0.232827	0.1638	0.2056	0.3840	0.372894169985	0.389423175481	0.403,T	0.025,B	0.013,B	0.729097,P	0.004464,N	0,N	-4.32,D	9.5554	0.911	0.622	1.481519,13.22	.	AC=21;AN=34;BQB=0.725646;DP4=228,200,310,299;DP=1317;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.956194;SF=1,5,6,7,8,9,10,11,12,13,16,17,18,20,22,23,24;SGB=-0.692352;VDB=0.671982	GT:DP:DV:PL	.	0/1:58:21:255,0,255	.	.	.	0/1:82:43:255,0,255	0/1:67:29:255,0,255	0/1:76:38:255,0,255	0/1:57:27:255,0,255	0/1:33:21:255,0,255	0/1:60:23:255,0,255	1/1:62:62:255,187,0	1/1:68:68:255,205,0	0/1:82:46:255,0,255	.	.	1/1:55:55:255,166,0	0/1:48:22:255,0,255	1/1:40:40:255,120,0	.	0/1:67:31:255,0,255	.	0/1:40:16:255,0,255	0/1:80:34:255,0,255	0/1:62:33:255,0,255	C	T	4	13	Immunodeficiency 21, 614172 (3); Emberger syndrome, 614038 (3); {Myelodysplastic syndrome, susceptibility to}, 614286 (3); {Leukemia, acute myeloid, susceptibility to}, 601626 (3)	.	Coronary artery disease, association with(CM066570)	ACC-GCC|Ala164Thr|c.490A>G|p.T164A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16934006&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	16934006|24728327|23365458|22996659|22147895|21892162|21892158|21765025|21670465|21242295|20803646|20040766|19242469|18250304|17962413|16934006|12750312|11021798|10873593|10367888|9822612|9021157|8504932|8078582|2543925|1714909|1370462	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_TRANSPORT;PHAGOCYTOSIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;VESICLE_MEDIATED_TRANSPORT;REGULATION_OF_ENDOCYTOSIS;TRANSCRIPTION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEUS	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_AR_TF_PATHWAY;PID_AP1_PATHWAY;PID_HIF1_TFPATHWAY	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	3	128781048	rs3796130	G	A	153.57	PASS	GP9	glycoprotein IX (platelet)	exonic	NM_000174	.	missense SNV	GP9:NM_000174:exon3:c.G466A:p.A156T	ENST00000307395.4	.	3q21.3	.	.	Score=745;Name=V$PAX4_04	.	.	rs3796130	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000177001.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.22093	0.2302	0.067492	.	0.0800	0.4049	0.220520321593	0.217548004808	0.148,T	0.043,B	0.688,P	1,P	0.240011,N	2.34,M	-1.25,T	7.5234	0.851	1.013	2.170896,17.32	3.05	AC=15;AN=28;BQB=0.884505;DP4=37,111,55,76;DP=324;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.206831;SF=1,3,4,8,10,11,12,13,14,15,17,19,20,21;SGB=-0.651104;VDB=0.55693	GT:DP:DV:PL	.	0/1:19:8:196,0,242	.	0/1:13:6:163,0,188	0/1:24:13:184,0,146	.	.	.	0/1:17:4:97,0,255	.	1/1:12:12:255,36,0	0/1:13:3:81,0,195	0/1:21:7:179,0,211	0/1:31:14:255,0,255	0/1:15:5:89,0,255	0/1:17:13:246,0,70	.	0/1:10:5:126,0,126	.	0/1:24:9:229,0,255	0/1:30:16:255,0,255	0/1:33:16:255,0,255	.	.	.	G	A	1	13	Bernard-Soulier syndrome, type C, 231200 (3)	.	Bernard-Soulier syndrome(CM014862)	GCC-ACC|Ala156Thr|c.466G>A|p.A156T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11758225&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	11758225|20981092|14510954|12100158|11167791|9886312|9616133|9163595|8519770|8481514|8049428|2771955|2253772	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_ECM_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	133494354	rs1049296	C	T	213.12	PASS	TF	transferrin	exonic	NM_001063	.	missense SNV	TF:NM_001063:exon15:c.C1765T:p.P589S	ENST00000402696.3,ENST00000264998.3	.	3q22.1	.	.	.	.	.	rs1049296	CLINSIG=other|other;CLNDBN=Transferrin_variant_c1/c2|Alzheimer_disease\x2c_susceptibility_to;CLNACC=RCV000013451.23|RCV000013452.3;CLNDSDB=.|.;CLNDSDBID=.|.	Alcohol consumption (transferrin glycosylation)	0.269103	0.256	0.15635	0.1305	0.1602	0.2594	0.265696739663	0.266827050481	0.108,T	0.011,B	0.002,B	1,P	0.285272,N	1.185,L	3.15,T	6.2687	-1.250	-2.555	.	.	AC=8;AN=16;BQB=0.95306;DP4=59,40,63,32;DP=263;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.95306;SF=0,2,8,9,12,19,20,24;SGB=-0.670168;VDB=0.165106	GT:DP:DV:PL	0/1:23:10:249,0,255	.	0/1:26:14:255,0,255	.	.	.	.	.	0/1:21:10:249,0,255	0/1:19:9:197,0,255	.	.	0/1:22:10:255,0,255	.	.	.	.	.	.	0/1:30:11:255,0,255	0/1:28:19:255,0,245	.	.	.	0/1:25:12:255,0,255	C	T	0	8	Atransferrinemia, 209300 (3)	21665994(5E-43)	Alzheimer disease, association with(CM033984)	CCT-TCT|Pro589Ser|c.1765C>T|p.P589S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14757931&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19673882&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21514009&dopt=Abstract)	14757931|19673882|21514009|25504720|20029940|17809412|16398662|15466165|15060098|14483936|13541421|13493574|12752114|12642662|12111369|11703331|11297622|11110675|9803271|9272172|8317485|7216229|7104232|7082283|6953407|6690479|6586637|6585826|6326658|6324846|6322780|6270680|5963306|5927288|5711079|5610700|4625559|3980021|3858812|3583291|3436225|3057819|2988538|2332107|1809186|405310	.	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	.	.	PID_EPHBFWDPATHWAY;PID_HIF1_TFPATHWAY	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT;REACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	148916235	rs701753	T	A	228	PASS	CP	ceruloplasmin (ferroxidase)	exonic	NM_000096	.	missense SNV	CP:NM_000096:exon9:c.A1632T:p.E544D	ENST00000462336.1,ENST00000264613.6	.	3q25.1	.	.	.	.	.	rs701753	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000180465.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	1	0.999	0.86222	0.8559	0.9165	0.9995	0.870597145482	1.0	1.0,T	.	.	0.999987,P	0.000002,N	.	-4.94,D	6.9441	-0.803	-0.080	.	.	AC=50;AN=50;DP4=0,0,412,158;DP=790;MQ0F=0;MQ=55;MQSB=0.677149;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.764057	GT:DP:DV:PL	1/1:18:18:255,54,0	1/1:25:25:255,75,0	1/1:27:27:255,81,0	1/1:30:30:255,90,0	1/1:29:29:255,87,0	1/1:23:23:255,69,0	1/1:16:16:255,48,0	1/1:22:22:255,66,0	1/1:27:27:255,81,0	1/1:22:22:255,66,0	1/1:19:19:255,57,0	1/1:22:22:255,66,0	1/1:14:14:255,42,0	1/1:11:11:255,33,0	1/1:20:20:255,60,0	1/1:26:26:255,78,0	1/1:26:26:255,78,0	1/1:13:13:255,39,0	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:26:26:255,78,0	1/1:30:30:255,90,0	1/1:12:12:255,36,0	1/1:32:32:255,96,0	1/1:27:27:255,81,0	T	A	25	0	[Hypoceruloplasminemia, hereditary], 604290 (3); Cerebellar ataxia, 604290 (3); Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)	.	Substantia nigra hyperechogenicity in Parkinsonism, association with(CM045288)	GAT-GAA|Asp544Glu|c.1632T>A|p.D544E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15557511&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16150804&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22773607&dopt=Abstract)	15557511|16150804|22773607|17251471|15365174|11756598|10485908|9445478|8968753|8789443|8641692|7820540|7708681|7702601|7539672|7152528|6942404|6651218|6582496|6571985|6481132|6438625|6254847|5912351|5675426|5456439|5046912|4975696|4180112|3574673|3474786|3427102|3416657|2873574|2355023|2016084|1458725	REGULATION_OF_BIOLOGICAL_QUALITY;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	OXIDOREDUCTASE_ACTIVITY	KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM	PID_HIF1_TFPATHWAY	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_METAL_ION_SLC_TRANSPORTERS;REACTOME_IRON_UPTAKE_AND_TRANSPORT	PS1,PS3,BA1
L	3	186390627	rs9898	C	T	202.84	PASS	HRG	histidine-rich glycoprotein	exonic	NM_000412	.	missense SNV	HRG:NM_000412:exon5:c.C610T:p.P204S	ENST00000232003.4	.	3q27.3	.	.	.	.	.	rs9898	.	Activated partial thromboplastin time	0.596346	0.5724	0.491414	0.4275	0.3854	0.5415	0.546707531394	0.578125411058	1.0,T	0.0,B	0.0,B	0.999982,P	0.000735,N	-2.515,N	2.64,T	7.2132	0.779	2.156	.	4.35	AC=26;AN=38;BQB=0.882128;DP4=69,34,137,66;DP=437;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.505184;SF=0,2,3,4,5,6,8,9,10,11,12,13,14,16,17,18,19,20,21;SGB=-0.683931;VDB=0.0813101	GT:DP:DV:PL	0/1:22:13:255,0,251	.	0/1:18:10:255,0,248	1/1:12:12:255,36,0	0/1:19:13:255,0,179	1/1:19:19:255,57,0	0/1:25:12:255,0,255	.	1/1:12:12:255,36,0	1/1:15:15:255,45,0	1/1:19:19:255,57,0	0/1:13:4:139,0,255	0/1:15:7:192,0,200	1/1:11:11:255,33,0	0/1:15:9:255,0,189	.	0/1:27:11:251,0,255	0/1:11:5:154,0,211	0/1:12:5:170,0,219	1/1:11:11:255,33,0	0/1:13:7:239,0,208	0/1:17:8:235,0,255	.	.	.	C	T	7	12	Thrombophilia due to HRG deficiency, 613116 (3); Thrombophilia due to elevated HRG, 613116 (1)	22703881(1E-111);20303064(1E-11)	Poor pregnancy outcome in IVF(CM1111307)	CCC-TCC|Pro204Ser|c.610C>T|p.P204S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21665544&dopt=Abstract)	21665544|20303064|19674792|17229145|9414276|8478589|8188234|3011081|2524479|2347592|1561009	.	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	186443018	rs1656922	T	C	218.31	PASS	KNG1	kininogen 1	exonic	NM_000893,NM_001102416,NM_001166451	.	missense SNV	KNG1:NM_000893:exon4:c.T533C:p.M178T,KNG1:NM_001102416:exon4:c.T533C:p.M178T,KNG1:NM_001166451:exon4:c.T533C:p.M178T	ENST00000287611.2,ENST00000265023.4,ENST00000447445.1,ENST00000599314.1	.	3q27.3	.	.	.	.	.	rs1656922	.	.	0.350498	0.3562	0.524161	0.5457	0.5373	0.3847	0.358346036753	0.361778504808	0.71,T	0.0,B	0.0,B	1,P	0.446548,N	-0.665,N	1.77,T	0.9891	-0.128	-0.072	.	.	AC=18;AN=32;BQB=0.843281;DP4=162,105,209,109;DP=845;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981239;SF=0,1,3,4,5,10,11,12,13,15,16,17,20,21,22,24;SGB=-0.692067;VDB=0.36667	GT:DP:DV:PL	0/1:32:20:255,0,255	1/1:37:37:255,111,0	.	0/1:43:21:255,0,255	0/1:35:18:255,0,255	0/1:41:16:255,0,255	.	.	.	.	0/1:36:14:255,0,255	0/1:38:12:255,0,255	0/1:29:24:255,0,112	0/1:35:16:255,0,255	.	1/1:30:30:255,90,0	0/1:53:27:255,0,255	0/1:36:15:255,0,255	.	.	0/1:35:18:255,0,255	0/1:54:22:255,0,255	0/1:16:7:187,0,255	.	0/1:35:21:255,0,255	T	C	2	14	[Kininogen deficiency], 228960 (3); [High molecular weight kininogen deficiency], 228960 (3)	.	Nephropathy, reduced risk, association with(CM065290)	ATG-ACG|Met178Thr|c.533T>C|p.M178T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17065357&dopt=Abstract)	17065357|21270443|20303064|18000168|17522339|12780784|12576314|7901207|2989294|2989293|2066106|1968772|1733668|1202089|48123	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;ESTABLISHMENT_OF_LOCALIZATION;DEFENSE_RESPONSE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;CELLULAR_CATION_HOMEOSTASIS;EXCRETION;NEGATIVE_REGULATION_OF_CELL_ADHESION;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;SECRETION;SMOOTH_MUSCLE_CONTRACTION_GO_0006939;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;BODY_FLUID_SECRETION;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;RESPONSE_TO_WOUNDING;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	.	RECEPTOR_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_INTEGRIN2_PATHWAY;PID_SYNDECAN_2_PATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_LAIR_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_GPCR_LIGAND_BINDING;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	186459927	rs710446	T	C	222.46	PASS	KNG1	kininogen 1	exonic	NM_001102416	.	missense SNV	KNG1:NM_001102416:exon10:c.T1742C:p.I581T	ENST00000287611.2,ENST00000354642.2,ENST00000265023.4,ENST00000447445.1,ENST00000599314.1	.	3q27.3	.	.	.	.	.	rs710446	.	Activated partial thromboplastin time	0.290698	0.2966	0.415335	0.4419	0.4154	0.3153	0.295559157734	0.293269466346	1.0,T	0.0,B	0.0,B	5.94941e-14,P	0.005282,N	-2.24,N	2.75,T	11.0572	1.546	1.999	.	5.61	AC=14;AN=26;BQB=0.838782;DP4=209,127,251,161;DP=963;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.734241;SF=0,1,3,4,5,10,15,16,17,20,21,22,24;SGB=-0.693079;VDB=0.0376443	GT:DP:DV:PL	0/1:63:29:255,0,255	1/1:62:62:255,187,0	.	0/1:59:30:255,0,255	0/1:57:28:255,0,255	0/1:68:35:255,0,255	.	.	.	.	0/1:59:30:255,0,255	.	.	.	.	0/1:58:23:255,0,255	0/1:68:36:255,0,255	0/1:54:33:255,0,255	.	.	0/1:45:26:255,0,255	0/1:59:24:255,0,255	0/1:25:14:255,0,238	.	0/1:71:42:255,0,255	T	C	1	12	[Kininogen deficiency], 228960 (3); [High molecular weight kininogen deficiency], 228960 (3)	22703881(2E-203);20303064(1E-21)	Venous thrombosis, increased risk, association(CM112211)	ATA-ACA|Ile581Thr|c.1742T>C|p.I581T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21270443&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22701019&dopt=Abstract)	21270443|22701019|21270443|20303064|18000168|17522339|12780784|12576314|7901207|2989294|2989293|2066106|1968772|1733668|1202089|48123	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;ESTABLISHMENT_OF_LOCALIZATION;DEFENSE_RESPONSE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;CELLULAR_CATION_HOMEOSTASIS;EXCRETION;NEGATIVE_REGULATION_OF_CELL_ADHESION;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;SECRETION;SMOOTH_MUSCLE_CONTRACTION_GO_0006939;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;BODY_FLUID_SECRETION;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;RESPONSE_TO_WOUNDING;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	.	RECEPTOR_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_INTEGRIN2_PATHWAY;PID_SYNDECAN_2_PATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_LAIR_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_GPCR_LIGAND_BINDING;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	3	186570892	rs2241766	T	G	224.4	PASS	ADIPOQ	adiponectin, C1Q and collagen domain containing	exonic	NM_001177800,NM_004797	.	synonymous SNV	ADIPOQ:NM_004797:exon2:c.T45G:p.G15G,ADIPOQ:NM_001177800:exon3:c.T45G:p.G15G	ENST00000444204.2,ENST00000422718.1,ENST00000412955.2,ENST00000320741.2	.	3q27.3	.	.	.	.	.	rs2241766	.	.	0.289037	0.2986	0.151358	0.0925	0.1289	0.3069	0.28101107657	0.27524059375	.	.	.	.	.	.	.	.	-0.100	-0.255	.	.	AC=14;AN=20;BQB=0.911684;DP4=125,42,332,108;DP=755;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.435109;SF=4,8,9,10,11,16,17,18,20,22;SGB=-0.692352;VDB=0.0114213	GT:DP:DV:PL	.	.	.	.	0/1:46:21:255,0,255	.	.	.	1/1:66:66:255,199,0	0/1:50:27:255,0,255	1/1:67:67:255,202,0	0/1:62:29:255,0,255	.	.	.	.	1/1:78:77:255,198,0	0/1:62:30:255,0,255	0/1:73:35:255,0,255	.	1/1:74:74:255,220,0	.	0/1:29:14:255,0,255	.	.	T	G	4	6	Adiponectin deficiency, 612556 (3)	.	Diabetes, type 2, association with(CM032392)	GGT-GGG|Gly15Gly|c.45T>G|p.G15G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11812766&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19573164&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21215068&dopt=Abstract)	11812766|19573164|21215068|22474022|20357764|18431508|17698903|17256056|16418740|16256387|16155579|15231994|15210937|15126557|15096450|15077108|15070952|14671149|14617771|12878598|12431986|12368907|12364452|12354786|12138120|12114044|12086965|12068289|12021245|11549668|11502817|11162643|10982546|10961870|10918532|10604883|10403784|10095105|10092513|8619847	GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY	.	.	KEGG_PPAR_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	PS1,PS3,BA1
L	4	980971	rs10794537	T	G	181.3	PASS	IDUA	iduronidase, alpha-L-	exonic	NM_000203	.	missense SNV	IDUA:NM_000203:exon1:c.T99G:p.H33Q	ENST00000398520.2,ENST00000453894.1,ENST00000247933.4	CpG: 60	4p16.3	.	.	Score=783;Name=V$AHRARNT_02	.	.	rs10794537	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000078401.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.835548	0.8472	0.891973	.	0.9137	0.8615	0.760336973966	0.838942158654	0.461,T	0.0,B	0.0,B	1,P	0.491278,N	-0.69,N	-3.03,D	1.2904	-0.253	-2.545	.	.	AC=43;AN=50;BQB=0.809011;DP4=35,2,222,12;DP=388;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;MQSB=1;RPB=0.809011;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.833739	GT:DP:DV:PL	1/1:11:11:238,33,0	0/1:9:3:80,0,173	1/1:13:13:255,39,0	0/1:12:8:249,0,76	1/1:7:7:178,21,0	0/1:18:11:244,0,189	1/1:9:9:212,27,0	0/1:9:3:78,0,184	1/1:9:9:225,27,0	1/1:4:4:152,12,0	1/1:10:10:255,30,0	1/1:9:9:241,27,0	1/1:9:9:219,27,0	1/1:16:16:255,48,0	0/1:23:16:255,0,181	1/1:11:11:255,33,0	0/1:12:8:203,0,134	1/1:4:4:155,12,0	1/1:6:6:188,18,0	0/1:10:7:191,0,100	1/1:11:11:252,33,0	1/1:18:18:255,54,0	1/1:4:4:113,12,0	1/1:14:14:255,42,0	1/1:13:13:255,39,0	T	G	18	7	Mucopolysaccharidosis Ih, 607014 (3); Mucopolysaccharidosis Is, 607016 (3); Mucopolysaccharidosis Ih/s, 607015 (3)	.	Mucopolysaccharidosis I(CM139563)	CAT-CAG|His33Gln|c.99T>G|p.H33Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24053568&dopt=Abstract)	24053568|15521993|12509712|11735025|10738517|10735634|10466419|9427149|9391892|8680403|8664897|8554071|8477267|8328452|8318992|8213840|7951228|7919654|7550242|7550232|6821579|6422468|4257494|4221470|4112371|4043083|4043081|2522450|2470345|2220820|2170400|1946389|1883197|1551868|1550122|1505961|1478658|1339393|1301941|1301196	CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS	.	HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_CS_DS_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	4	2906707	rs4961	G	T	222.86	PASS	ADD1	adducin 1 (alpha)	exonic	NM_001119,NM_001286645,NM_014189,NM_014190,NM_176801	.	missense SNV	ADD1:NM_001119:exon10:c.G1378T:p.G460W,ADD1:NM_014189:exon10:c.G1378T:p.G460W,ADD1:NM_014190:exon10:c.G1378T:p.G460W,ADD1:NM_176801:exon10:c.G1378T:p.G460W,ADD1:NM_001286645:exon11:c.G1378T:p.G460W	ENST00000398123.2,ENST00000398129.1,ENST00000398125.1,ENST00000513328.2,ENST00000264758.7,ENST00000503455.2,ENST00000355842.3,ENST00000446856.1	.	4p16.3	.	.	.	.	.	rs4961	CLINSIG=other;CLNDBN=Hypertension\x2c_salt-sensitive_essential\x2c_susceptibility_to;CLNACC=RCV000019936.2;CLNDSDB=.;CLNDSDBID=.	.	0.460133	0.4524	0.208466	0.1580	0.2019	0.4760	0.470137777948	0.486778997596	0.029,D	1.0,D	1.0,D	1.18923e-08,P	0.000000,D	2.14,M	2.05,T	19.4964	2.610	6.525	6.127334,28.4	5.55	AC=16;AN=28;BQB=0.757723;DP4=191,158,279,159;DP=1010;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691643;SF=1,2,5,8,9,10,12,15,16,19,20,21,22,24;SGB=-0.692562;VDB=0.85753	GT:DP:DV:PL	.	0/1:48:22:255,0,255	1/1:64:64:255,193,0	.	.	0/1:67:33:255,0,255	.	.	1/1:50:50:255,151,0	0/1:50:23:255,0,255	0/1:66:32:255,0,255	.	0/1:49:28:255,0,255	.	.	0/1:50:23:255,0,255	0/1:56:24:255,0,255	.	.	0/1:66:28:255,0,255	0/1:63:30:255,0,255	0/1:66:37:255,0,255	0/1:37:18:255,0,255	.	0/1:55:26:255,0,255	G	T	2	12	{Hypertension, essential, salt-sensitive}, 145500 (3)	.	Hypertension, association with(CM021240)	GGG-TGG|Gly460Trp|c.1378G>T|p.G460W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9149697&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17984662&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11882573&dopt=Abstract)	9149697|17984662|11882573|18524856|15528469|11641285|10485892|10024330|9607177|9149697|8675693|8626479|8171025|7959767|7919654|7875756|3511042|2451672|2376589|1850845|1840603|1345173|1284592	.	.	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_CASPASE_MEDIATED_CLEAVAGE_OF_CYTOSKELETAL_PROTEINS;REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	4	2916762	rs4963	C	G	215.36	PASS	ADD1	adducin 1 (alpha)	exonic	NM_001119,NM_001286645,NM_014189,NM_014190,NM_176801	.	missense SNV	ADD1:NM_001119:exon13:c.C1757G:p.S586C,ADD1:NM_014189:exon13:c.C1850G:p.S617C,ADD1:NM_014190:exon13:c.C1757G:p.S586C,ADD1:NM_176801:exon13:c.C1850G:p.S617C,ADD1:NM_001286645:exon15:c.C1850G:p.S617C	ENST00000398123.2,ENST00000398129.1,ENST00000398125.1,ENST00000513328.2,ENST00000264758.7,ENST00000503455.2,ENST00000355842.3,ENST00000446856.1	.	4p16.3	.	.	.	.	.	rs4963	.	.	0.460133	0.4524	0.237819	0.1814	0.2136	0.4824	0.471669220521	0.48798096875	0.053,T	0.694,P	0.94,P	1,P	0.354858,N	0.895,L	2.16,T	16.4208	1.306	1.284	3.441485,23.0	4.6	AC=16;AN=28;BQB=0.171895;DP4=158,88,231,100;DP=811;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.912238;SF=1,2,5,8,9,10,12,15,16,19,20,21,22,24;SGB=-0.693021;VDB=0.0609881	GT:DP:DV:PL	.	0/1:45:27:255,0,255	1/1:41:41:255,123,0	.	.	0/1:65:35:255,0,255	.	.	1/1:34:34:255,102,0	0/1:33:12:255,0,255	0/1:40:23:255,0,255	.	0/1:24:9:204,0,255	.	.	0/1:32:19:255,0,255	0/1:40:23:255,0,255	.	.	0/1:40:20:255,0,255	0/1:49:29:255,0,255	0/1:60:23:255,0,255	0/1:16:7:201,0,241	.	0/1:58:29:255,0,255	C	G	2	12	{Hypertension, essential, salt-sensitive}, 145500 (3)	.	Gastric cancer, non-cardia, increased risk(CM1314034)	TCT-TGT|Ser586Cys|c.1757C>G|p.S586C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23985264&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25816007&dopt=Abstract)	23985264|25816007|18524856|15528469|11641285|10485892|10024330|9607177|9149697|8675693|8626479|8171025|7959767|7919654|7875756|3511042|2451672|2376589|1850845|1840603|1345173|1284592	.	.	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_CASPASE_MEDIATED_CLEAVAGE_OF_CYTOSKELETAL_PROTEINS;REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	4	3494898	rs6850908	C	T	224.45	PASS	DOK7	docking protein 7	exonic	NM_001256896,NM_001301071,NM_173660	.	synonymous SNV	DOK7:NM_001256896:exon4:c.C255T:p.Y85Y,DOK7:NM_001301071:exon7:c.C1185T:p.Y395Y,DOK7:NM_173660:exon7:c.C1185T:p.Y395Y	ENST00000340083.5,ENST00000512714.1,ENST00000507039.1,ENST00000389653.2	.	4p16.3	.	.	Score=913;Name=V$AREB6_03	.	.	rs6850908	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000116887.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.513289	0.502	0.219649	0.1598	0.2722	0.5326	0.490045679939	0.499999865385	.	.	.	.	.	.	.	.	1.965	1.940	.	2.8	AC=31;AN=44;BQB=0.878976;DP4=380,195,747,432;DP=2367;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.510625;SF=0,1,3,4,5,6,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.925789	GT:DP:DV:PL	1/1:50:50:255,151,0	1/1:62:62:255,187,0	.	0/1:73:38:255,0,255	0/1:59:27:255,0,255	1/1:138:138:255,255,0	0/1:65:35:255,0,255	.	0/1:60:29:255,0,255	.	0/1:67:22:255,0,255	0/1:69:32:255,0,255	1/1:61:61:255,184,0	0/1:111:57:255,0,255	1/1:92:92:255,255,0	0/1:50:26:255,0,255	0/1:42:21:255,0,255	1/1:57:57:255,172,0	1/1:48:48:255,144,0	0/1:75:38:255,0,255	1/1:80:80:255,241,0	0/1:151:62:255,0,255	1/1:57:57:255,169,0	0/1:155:76:255,0,255	0/1:132:71:255,0,255	C	T	9	13	Myasthenic syndrome, congenital, 10, 254300 (3); ?Fetal akinesia deformation sequence, 208150 (3)	.	Congenital myasthenic syndromes(CM1212498)	TAC-TAG|Tyr395Term|c.1185C>G|p.Y395*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22661499&dopt=Abstract)	22661499|25237101|21041412|20147321|19261599|18626973|16917026|16794080	.	.	.	.	.	.	.	PS1,PS3,BA1
L	4	6302519	rs1801212	G	A	228	PASS	WFS1	Wolfram syndrome 1 (wolframin)	exonic	NM_001145853,NM_006005	.	missense SNV	WFS1:NM_001145853:exon8:c.G997A:p.V333I,WFS1:NM_006005:exon8:c.G997A:p.V333I	ENST00000503569.1,ENST00000226760.1	.	4p16.1	.	.	.	.	.	rs1801212	CLINSIG=Benign\x2cBenign;CLNDBN=not_specified\x2cnot_specified;CLNACC=RCV000038668.7,RCV000155337.1;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN169374\x2cCN169374	.	0.998339	0.995	0.884385	0.7993	0.7818	0.9979	0.994640035222	0.996394228365	1.0,T	0.0,B	0.001,B	0.999885,P	0.000000,N	-2.83,N	-1.98,D	8.3817	0.169	3.740	.	3.4	AC=50;AN=50;BQB=1;DP4=1,0,1967,701;DP=3580;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.63283	GT:DP:DV:PL	1/1:113:113:255,255,0	1/1:108:108:255,255,0	1/1:95:95:255,255,0	1/1:101:101:255,255,0	1/1:91:91:255,255,0	1/1:142:142:255,255,0	1/1:93:93:255,255,0	1/1:127:127:255,255,0	1/1:86:86:255,255,0	1/1:80:80:255,241,0	1/1:119:119:255,255,0	1/1:89:89:255,255,0	1/1:92:92:255,255,0	1/1:161:160:255,255,0	1/1:107:107:255,255,0	1/1:101:101:255,255,0	1/1:107:107:255,255,0	1/1:70:70:255,211,0	1/1:106:106:255,255,0	1/1:104:104:255,255,0	1/1:115:115:255,255,0	1/1:169:169:255,255,0	1/1:29:29:255,87,0	1/1:116:116:255,255,0	1/1:148:148:255,255,0	G	A	25	0	Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)	.	Wolframin variant(CM115388)	GTC-ATC|Val333Ile|c.997G>A|p.V333I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21726277&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21517693&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24464100&dopt=Abstract)	21726277|21517693|24464100|23531866|21538838|20069065|18806274|18688868|18544103|17947299|17603484|17492394|16806192|16648378|16195229|16151413|15151504|15056606|14527944|12955714|12913071|12754709|12181639|12107816|12073007|11709538|11709537|11317350|11295831|11260218|11181571|11161832|10521293|9817917|9771706|8595423	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	PS1,PS3,BA1
L	4	6302707	rs1801206	C	T	226.75	PASS	WFS1	Wolfram syndrome 1 (wolframin)	exonic	NM_001145853,NM_006005	.	synonymous SNV	WFS1:NM_001145853:exon8:c.C1185T:p.V395V,WFS1:NM_006005:exon8:c.C1185T:p.V395V	ENST00000503569.1,ENST00000226760.1	.	4p16.1	.	.	.	.	.	rs1801206	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000038635.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.895349	0.9038	0.641573	0.5531	0.6245	0.9358	0.919601961715	0.905048254808	.	.	.	.	.	.	.	.	-0.326	-1.444	.	.	AC=43;AN=48;BQB=0.171184;DP4=205,103,1739,1153;DP=4273;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.386013;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.602067	GT:DP:DV:PL	1/1:128:128:255,255,0	1/1:125:125:255,255,0	1/1:143:143:255,255,0	0/1:119:54:255,0,255	1/1:120:120:255,255,0	1/1:201:201:255,255,0	1/1:138:138:255,255,0	1/1:141:141:255,255,0	1/1:117:117:255,255,0	1/1:105:105:255,255,0	1/1:125:125:255,255,0	0/1:92:44:255,0,255	1/1:129:129:255,255,0	.	1/1:139:139:255,255,0	1/1:128:128:255,255,0	1/1:117:117:255,255,0	1/1:99:99:255,255,0	0/1:116:47:255,0,255	1/1:147:146:255,255,0	1/1:127:127:255,255,0	1/1:250:250:255,255,0	0/1:43:20:255,0,255	1/1:172:172:255,255,0	0/1:179:77:255,0,255	C	T	19	5	Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)	.	Diabetes, type 1, association with(CM021362)	GTT-GTC|Val395Val|c.1185T>C|p.V395V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12107816&dopt=Abstract)	12107816|23531866|21538838|20069065|18806274|18688868|18544103|17947299|17603484|17492394|16806192|16648378|16195229|16151413|15151504|15056606|14527944|12955714|12913071|12754709|12181639|12107816|12073007|11709538|11709537|11317350|11295831|11260218|11181571|11161832|10521293|9817917|9771706|8595423	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	PS1,PS3,BA1
L	4	6303354	rs734312	G	A	225.39	PASS	WFS1	Wolfram syndrome 1 (wolframin)	exonic	NM_001145853,NM_006005	.	missense SNV	WFS1:NM_001145853:exon8:c.G1832A:p.R611H,WFS1:NM_006005:exon8:c.G1832A:p.R611H	ENST00000503569.1,ENST00000226760.1	.	4p16.1	.	.	.	.	.	rs734312	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000038646.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.800664	0.8105	0.469249	0.4012	0.5367	0.8363	0.818529751914	0.796874805288	0.085,T	0.04,B	0.146,B	0.000664592,P	0.000013,N	2.57,M	-3.25,D	13.2566	1.295	4.705	1.189038,11.69	4.57	AC=36;AN=46;BQB=0.768805;DP4=290,203,1207,872;DP=3367;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0737138;SF=0,1,2,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.417135	GT:DP:DV:PL	1/1:82:82:255,247,0	0/1:97:48:255,0,255	1/1:117:117:255,255,0	.	0/1:102:58:255,0,255	1/1:171:171:255,255,0	1/1:104:104:255,255,0	1/1:122:122:255,255,0	0/1:101:60:255,0,255	1/1:86:86:255,255,0	0/1:110:63:255,0,255	0/1:103:50:255,0,255	0/1:98:48:255,0,255	.	1/1:144:144:255,255,0	1/1:103:103:255,255,0	0/1:101:51:255,0,255	1/1:80:80:255,238,0	0/1:98:43:255,0,255	1/1:119:119:255,255,0	1/1:123:123:255,255,0	1/1:186:186:255,255,0	0/1:44:18:255,0,255	1/1:130:130:255,255,0	0/1:151:73:255,0,255	G	A	13	10	Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)	.	Diabetes, type 1, association with(CM000447)	CAC-CGC|His611Arg|c.1832A>G|p.H611R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10679252&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17719176&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23595122&dopt=Abstract)	10679252|17719176|23595122|23531866|21538838|20069065|18806274|18688868|18544103|17947299|17603484|17492394|16806192|16648378|16195229|16151413|15151504|15056606|14527944|12955714|12913071|12754709|12181639|12107816|12073007|11709538|11709537|11317350|11295831|11260218|11181571|11161832|10521293|9817917|9771706|8595423	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	PS1,PS3,BA1
L	4	6303955	rs1046314	G	A	226.75	PASS	WFS1	Wolfram syndrome 1 (wolframin)	exonic	NM_001145853,NM_006005	.	synonymous SNV	WFS1:NM_001145853:exon8:c.G2433A:p.K811K,WFS1:NM_006005:exon8:c.G2433A:p.K811K	ENST00000503569.1,ENST00000226760.1	CpG: 58	4p16.1	.	.	Score=844;Name=V$HMX1_01	.	.	rs1046314	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000038659.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.895349	0.9038	0.653155	0.5659	0.6294	0.9364	0.917305067381	0.905048254808	.	.	.	.	.	.	.	.	0.272	1.073	.	.	AC=43;AN=48;BQB=0.0553194;DP4=106,97,1040,789;DP=2839;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.350669;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.390143	GT:DP:DV:PL	1/1:84:84:255,253,0	1/1:75:75:255,226,0	1/1:94:94:255,255,0	0/1:90:42:255,0,255	1/1:58:58:255,175,0	1/1:133:133:255,255,0	1/1:65:65:255,196,0	1/1:88:87:255,231,0	1/1:64:64:255,193,0	1/1:64:64:255,193,0	1/1:90:90:255,255,0	0/1:72:32:255,0,255	1/1:72:72:255,217,0	.	1/1:96:96:255,255,0	1/1:65:65:255,196,0	1/1:91:91:255,255,0	1/1:54:54:255,163,0	0/1:58:24:255,0,255	1/1:80:80:255,241,0	1/1:96:96:255,255,0	1/1:150:150:255,255,0	0/1:47:29:255,0,255	1/1:115:115:255,255,0	0/1:131:69:255,0,255	G	A	19	5	Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)	.	Diabetes, type 1, association with(CM021365)	AAA-AAG|Lys811Lys|c.2433A>G|p.K811K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12107816&dopt=Abstract)	12107816|23531866|21538838|20069065|18806274|18688868|18544103|17947299|17603484|17492394|16806192|16648378|16195229|16151413|15151504|15056606|14527944|12955714|12913071|12754709|12181639|12107816|12073007|11709538|11709537|11317350|11295831|11260218|11181571|11161832|10521293|9817917|9771706|8595423	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	PS1,PS3,BA1
L	4	6304087	rs1046316	A	G	226.75	PASS	WFS1	Wolfram syndrome 1 (wolframin)	exonic	NM_001145853,NM_006005	.	synonymous SNV	WFS1:NM_001145853:exon8:c.A2565G:p.S855S,WFS1:NM_006005:exon8:c.A2565G:p.S855S	ENST00000503569.1,ENST00000226760.1	CpG: 58	4p16.1	.	.	.	.	.	rs1046316	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000038660.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.895349	0.9038	0.779952	0.7117	0.7228	0.9368	0.921898856049	0.907451920673	.	.	.	.	.	.	.	.	-1.390	-2.777	.	.	AC=43;AN=48;BQB=0.869101;DP4=73,61,597,560;DP=1687;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.188049;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.0486817	GT:DP:DV:PL	1/1:39:39:255,117,0	1/1:33:33:255,99,0	1/1:66:66:255,199,0	0/1:66:29:255,0,255	1/1:39:39:255,117,0	1/1:88:88:255,255,0	1/1:53:53:255,160,0	1/1:46:46:255,138,0	1/1:44:44:255,132,0	1/1:39:39:255,117,0	1/1:60:60:255,181,0	0/1:51:23:255,0,255	1/1:53:53:255,160,0	.	1/1:58:58:255,175,0	1/1:38:38:255,114,0	1/1:54:54:255,163,0	1/1:38:38:255,114,0	0/1:50:28:255,0,255	1/1:51:51:255,154,0	1/1:55:55:255,166,0	1/1:89:89:255,255,0	0/1:30:16:255,0,255	1/1:73:73:255,220,0	0/1:78:45:255,0,255	A	G	19	5	Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38, 600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3); ?Cataract 41, 116400 (3)	.	Diabetes, type 1, association with(CM021366)	TCG-TCA|Ser855Ser|c.2565G>A|p.S855S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12107816&dopt=Abstract)	12107816|23531866|21538838|20069065|18806274|18688868|18544103|17947299|17603484|17492394|16806192|16648378|16195229|16151413|15151504|15056606|14527944|12955714|12913071|12754709|12181639|12107816|12073007|11709538|11709537|11317350|11295831|11260218|11181571|11161832|10521293|9817917|9771706|8595423	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	PS1,PS3,BA1
L	4	9922130	rs3733591	C	T	224.86	PASS	SLC2A9	solute carrier family 2 (facilitated glucose transporter), member 9	exonic	NM_001001290,NM_020041	.	missense SNV	SLC2A9:NM_020041:exon7:c.G881A:p.R294H,SLC2A9:NM_001001290:exon8:c.G794A:p.R265H	ENST00000506583.1,ENST00000309065.3,ENST00000264784.3	.	4p16.1	.	.	Score=874;Name=V$NF1_Q6	.	.	rs3733591	.	.	0.679402	0.6845	0.294129	0.1494	0.2459	0.6799	0.676110018377	0.686298129808	0.012,D	0.997,D	1.0,D	0.996525,P	0.341597,N	2.295,M	-0.81,T	9.2553	-0.019	0.218	3.239726,22.8	.	AC=31;AN=42;BQB=0.832298;DP4=315,155,777,332;DP=2231;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999986;SF=0,1,2,3,5,6,8,10,11,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.693147;VDB=0.0318238	GT:DP:DV:PL	1/1:56:56:255,169,0	0/1:76:42:255,0,255	1/1:60:60:255,181,0	0/1:73:48:255,0,255	.	0/1:128:54:255,0,255	0/1:66:31:255,0,255	.	0/1:58:27:255,0,255	.	1/1:61:61:255,184,0	0/1:59:27:255,0,255	0/1:66:34:255,0,255	0/1:98:45:255,0,255	1/1:61:61:255,184,0	0/1:78:35:255,0,255	1/1:61:61:255,184,0	1/1:59:59:255,178,0	1/1:67:67:255,202,0	0/1:89:45:255,0,255	1/1:60:60:255,181,0	.	1/1:35:35:255,105,0	0/1:145:78:255,0,255	1/1:123:123:255,255,0	C	T	10	11	{Uric acid concentration, serum, QTL 2}, 612076 (3); Hypouricemia, renal, 2, 612076 (3)	.	Gout, association with(CM1010127)	CAC-CGC|His294Arg|c.881A>G|p.H294R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19723617&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21658257&dopt=Abstract)	19723617|21658257|25966807|21810765|19926891|19706426|19189137|19026395|18701466|18327257|18327256|18179892|14739288|10860667	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_FACILITATIVE_NA_INDEPENDENT_GLUCOSE_TRANSPORTERS	PS1,PS3,BA1
L	4	24801315	rs2536512	G	A	223.26	PASS	SOD3	superoxide dismutase 3, extracellular	exonic	NM_003102	.	missense SNV	SOD3:NM_003102:exon2:c.G172A:p.A58T	ENST00000382120.3	CpG: 109	4p15.2	.	.	.	.	.	rs2536512	.	.	0.362126	0.3591	0.400559	0.5266	0.6032	0.4010	0.359111629403	0.368990338942	0.702,T	0.009,B	0.188,B	1,P	0.413244,N	1.87,L	0.86,T	2.3621	0.025	0.175	.	.	AC=23;AN=38;BQB=0.506114;DP4=323,151,542,261;DP=1794;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.547866;SF=0,1,2,3,5,6,7,11,12,13,14,15,17,18,19,20,21,22,23;SGB=-0.693097;VDB=0.0642797	GT:DP:DV:PL	0/1:58:30:255,0,255	0/1:50:24:255,0,255	0/1:74:31:255,0,255	0/1:62:29:255,0,255	.	0/1:130:67:255,0,255	1/1:46:46:255,138,0	0/1:77:42:255,0,255	.	.	.	0/1:56:27:255,0,255	0/1:49:25:255,0,255	1/1:76:75:255,192,0	1/1:72:72:255,217,0	0/1:38:16:255,0,255	.	0/1:37:16:255,0,255	0/1:52:28:255,0,255	0/1:74:38:255,0,255	0/1:60:28:255,0,255	1/1:147:147:255,255,0	0/1:40:21:255,0,255	0/1:79:41:255,0,255	.	G	A	4	15	[Superoxide dismutase, elevated extracellular] (3)	.	Diabetes, type 2, association with(CM067036)	GCG-ACG|Ala58Thr|c.172G>A|p.A58T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15990193&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19318538&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21178785&dopt=Abstract)	15990193|19318538|21178785|14662715|14619883|8034674|7959763|7662997|6541229|3476950|2276747|1477980	.	CELL_FRACTION;SOLUBLE_FRACTION	.	.	.	BIOCARTA_LONGEVITY_PATHWAY	.	PS1,PS3,BA1
L	4	38798648	rs5743618	C	A	228	PASS	TLR1	toll-like receptor 1	exonic	NM_003263	.	missense SNV	TLR1:NM_003263:exon4:c.G1805T:p.S602I	ENST00000308979.2,ENST00000502213.2	.	4p14	.	.	.	Score=0.939922;Name=chr4:38828766	.	rs5743618	CLINSIG=other;CLNDBN=Leprosy\x2c_protection_against;CLNACC=RCV000008865.4;CLNDSDB=MedGen;CLNDSDBID=C2750734	.	0.991694	0.994	0.800519	0.4786	0.5389	0.9899	0.991694	0.980769	1.0,T	0.0,B	0.0,B	1,P	0.223979,N	-2.455,N	4.65,T	8.4818	0.431	0.627	.	2.76	AC=50;AN=50;DP4=0,0,1252,432;DP=2153;MQ0F=0;MQ=50;MQSB=0.199384;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.211966	GT:DP:DV:PL	1/1:53:53:255,160,0	1/1:60:60:255,181,0	1/1:67:67:255,202,0	1/1:77:77:255,232,0	1/1:67:67:255,202,0	1/1:64:64:255,193,0	1/1:76:76:255,229,0	1/1:86:86:255,255,0	1/1:81:81:255,244,0	1/1:62:62:255,187,0	1/1:78:78:255,235,0	1/1:66:66:255,199,0	1/1:48:48:255,144,0	1/1:66:66:255,199,0	1/1:63:63:255,190,0	1/1:72:72:255,217,0	1/1:72:72:255,217,0	1/1:65:65:255,196,0	1/1:71:71:255,214,0	1/1:70:70:255,211,0	1/1:60:60:255,181,0	1/1:105:105:255,255,0	1/1:21:21:255,63,0	1/1:62:62:255,187,0	1/1:72:72:255,217,0	C	A	25	0	{Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3)	.	Leprosy, protection against, association with(CM073378)	ATC-AGC|Ile602Ser|c.1805T>G|p.I602S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17548585&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21618349&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17595679&dopt=Abstract)	17548585|21618349|17595679|23105135|21525932|19456232|18461142|17548585|17475868|12692544|12091878|12077222|11561001|11081518|10820283|9435236|8838819|7584026|1851964	POSITIVE_REGULATION_OF_TRANSLATION;SIGNAL_TRANSDUCTION;BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CYTOKINE_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY	PID_TOLL_ENDOGENOUS_PATHWAY	.	REACTOME_DEFENSINS;REACTOME_BETA_DEFENSINS;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PS1,PS3,BA1
L	4	38799710	rs4833095	T	C	206.35	PASS	TLR1	toll-like receptor 1	exonic	NM_003263	.	missense SNV	TLR1:NM_003263:exon4:c.A743G:p.N248S	ENST00000308979.2,ENST00000502213.2	.	4p14	.	.	Score=824;Name=V$EVI1_04	.	.	rs4833095	CLINSIG=other;CLNDBN=Leprosy_5;CLNACC=RCV000008866.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2750733:613223	Asthma and hay fever	0.60299	0.5992	0.574681	0.4279	0.3921	0.6014	0.615619954058	0.608173016827	0.175,T	0.003,B	0.001,B	1,P	0.147178,N	1.755,L	1.55,T	11.4828	-1.061	-0.227	.	.	AC=36;AN=46;BQB=0.407834;DP4=82,47,252,119;DP=635;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.799136;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693021;VDB=0.284113	GT:DP:DV:PL	.	1/1:27:27:255,81,0	0/1:22:7:186,0,255	.	0/1:22:7:170,0,255	0/1:29:16:255,0,255	1/1:21:21:255,63,0	1/1:14:14:255,42,0	1/1:27:27:255,81,0	0/1:28:12:255,0,255	1/1:15:15:255,45,0	1/1:27:27:255,81,0	0/1:15:8:176,0,178	0/1:20:7:175,0,255	1/1:11:11:255,33,0	0/1:25:13:255,0,255	1/1:21:21:255,63,0	0/1:19:11:255,0,194	0/1:23:7:141,0,255	1/1:26:25:255,18,0	1/1:22:22:255,66,0	1/1:28:28:255,84,0	1/1:17:17:255,51,0	1/1:18:18:255,54,0	0/1:23:10:246,0,255	T	C	13	10	{Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility to, 5}, 613223 (3)	24388013(5E-12)	Leprosy, association with(CM094340)	AAT-AGT|Asn248Ser|c.743A>G|p.N248S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19456232&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21618349&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18547625&dopt=Abstract)	19456232|21618349|18547625|23105135|21525932|19456232|18461142|17548585|17475868|12692544|12091878|12077222|11561001|11081518|10820283|9435236|8838819|7584026|1851964	POSITIVE_REGULATION_OF_TRANSLATION;SIGNAL_TRANSDUCTION;BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CYTOKINE_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY	PID_TOLL_ENDOGENOUS_PATHWAY	.	REACTOME_DEFENSINS;REACTOME_BETA_DEFENSINS;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PS1,PS3,BA1
L	4	55972974	rs1870377	T	A	216.05	PASS	KDR	kinase insert domain receptor	exonic	NM_002253	.	missense SNV	KDR:NM_002253:exon11:c.A1416T:p.Q472H	ENST00000263923.4	.	4q12	.	.	.	.	.	rs1870377	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000121293.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.490033	0.4653	0.211861	0.1939	0.2198	0.4637	0.470137722818	0.481971112981	0.033,D	0.8,P	0.955,P	1,P	0.938324,N	1.625,L	-1.02,T	5.5298	-0.160	-0.046	.	.	AC=29;AN=42;BQB=0.240508;DP4=95,47,223,125;DP=703;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.938795;SF=0,1,2,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,22,24;SGB=-0.693021;VDB=0.204985	GT:DP:DV:PL	1/1:27:27:255,81,0	1/1:20:20:255,60,0	0/1:18:10:250,0,232	.	1/1:34:34:255,102,0	0/1:20:10:255,0,255	0/1:26:12:255,0,255	0/1:23:8:231,0,255	1/1:23:23:255,69,0	1/1:32:32:255,96,0	0/1:28:11:255,0,255	0/1:26:16:255,0,255	.	1/1:23:23:255,69,0	0/1:20:12:255,0,248	1/1:23:23:255,69,0	0/1:30:17:255,0,255	0/1:19:12:255,0,193	1/1:22:22:255,66,0	0/1:15:6:188,0,255	0/1:22:12:255,0,255	.	0/1:9:5:178,0,128	.	0/1:30:13:255,0,255	T	A	8	13	Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)	.	Coronary heart disease, association with(CM074306)	CAT-CAA|His472Gln|c.1416T>A|p.H472Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17707181&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19521715&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	17707181|19521715|24728327|22426001|22012397|21068842|20445540|20008289|19668192|19242469|18997773|18997771|18931684|18432194|16648859|16453023|16163360|15577911|14691147|12796773|12652295|12415261|12080144|11807987|11577199|11329058|11296015|11081514|10477517|9689032|8806634|8356051|8107827|7847375|7736781|7694795|7681362|7596435|7528718|7479819|1717995|1656371|1324138	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION	PID_HIF2PATHWAY;PID_INTEGRIN3_PATHWAY;PID_TCPTP_PATHWAY;PID_SHP2_PATHWAY;PID_S1P_S1P1_PATHWAY;PID_VEGF_VEGFR_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_VEGF_LIGAND_RECEPTOR_INTERACTIONS	PS1,PS3,BA1
L	4	55979558	rs2305948	C	T	199.85	PASS	KDR	kinase insert domain receptor	exonic	NM_002253	.	missense SNV	KDR:NM_002253:exon7:c.G889A:p.V297I	ENST00000263923.4	.	4q12	.	.	.	.	.	rs2305948	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000121308.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.169435	0.1667	0.152556	0.1427	0.1089	0.1389	0.148545174579	0.15865375	0.059,T	0.999,D	1.0,D	6.40823e-05,P	0.000000,D	2.99,M	-0.23,T	13.5277	1.298	4.818	5.247614,25.6	4.63	AC=14;AN=26;BQB=1;DP4=75,72,83,69;DP=408;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97784;SF=2,4,6,9,10,12,13,15,17,18,19,20,24;SGB=-0.636426;VDB=0.259914	GT:DP:DV:PL	.	.	0/1:16:7:218,0,255	.	0/1:27:12:255,0,255	.	0/1:23:12:255,0,255	.	.	0/1:20:9:239,0,255	0/1:21:6:168,0,255	.	0/1:22:13:255,0,240	0/1:14:5:181,0,255	.	0/1:34:17:255,0,255	.	0/1:18:6:182,0,255	1/1:35:34:255,68,0	0/1:16:8:249,0,243	0/1:29:12:255,0,255	.	.	.	0/1:24:11:255,0,255	C	T	1	12	Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)	.	Coronary heart disease, association with(CM074307)	GTA-ATA|Val297Ile|c.889G>A|p.V297I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17707181&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23111153&dopt=Abstract)	17707181|24728327|23111153|22426001|22012397|21068842|20445540|20008289|19668192|19242469|18997773|18997771|18931684|18432194|16648859|16453023|16163360|15577911|14691147|12796773|12652295|12415261|12080144|11807987|11577199|11329058|11296015|11081514|10477517|9689032|8806634|8356051|8107827|7847375|7736781|7694795|7681362|7596435|7528718|7479819|1717995|1656371|1324138	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION	PID_HIF2PATHWAY;PID_INTEGRIN3_PATHWAY;PID_TCPTP_PATHWAY;PID_SHP2_PATHWAY;PID_S1P_S1P1_PATHWAY;PID_VEGF_VEGFR_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_VEGF_LIGAND_RECEPTOR_INTERACTIONS	PS1,PS3,BA1
L	4	74302071	rs3796678	T	A	174.78	PASS	AFP	alpha-fetoprotein	splicing	NM_001134	NM_001134:exon1:c.85+7T>A	.	.	ENST00000395792.2,ENST00000226359.2	.	4q13.3	.	.	.	.	.	rs3796678	.	.	0.574751	0.5774	0.5002	0.5257	0.5392	0.5937	0.574751	0.554086661058	.	.	.	.	.	.	.	.	1.039	0.580	1.478651,13.20	2.64	AC=25;AN=36;BQB=0.598107;DP4=13,53,49,121;DP=295;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.620067;SF=0,1,2,4,5,6,8,10,11,12,14,15,16,17,18,19,20,24;SGB=-0.683931;VDB=0.0119024	GT:DP:DV:PL	0/1:21:13:255,0,169	1/1:8:8:159,24,0	0/1:10:3:98,0,179	.	0/1:22:13:255,0,179	0/1:7:4:146,0,107	0/1:12:9:147,0,60	.	0/1:19:11:255,0,236	.	0/1:13:9:144,0,117	1/1:15:15:255,45,0	1/1:9:9:227,27,0	.	0/1:9:8:255,0,10	1/1:16:16:255,48,0	0/1:18:6:169,0,247	1/1:9:9:255,27,0	0/1:11:7:157,0,122	0/1:12:5:160,0,210	1/1:13:13:255,39,0	.	.	.	1/1:12:12:255,36,0	T	A	7	11	[Hereditary persistence of alpha-fetoprotein], 615970 (3); Alpha-fetoprotein deficiency, 615969 (3)	.	Hepatocellular carcinoma, increased risk, association with(CS104425)	IVS1 ds T-A +7|c.85+7T>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19968979&dopt=Abstract)	19968979|24120489|18854864|18669658|15626755|15280901|14699509|12297623|7684942|7543998|6205824|6192711|6192439|6187626|6186903|6182563|6172714|6170978|6170120|6167988|6154931|6085063|2580830|2452956|2436661|2436297|2435718|2431238|2415443|67170|57576	.	.	.	.	PID_P73PATHWAY;PID_HNF3BPATHWAY;PID_REG_GR_PATHWAY;PID_P53DOWNSTREAMPATHWAY	.	.	PS1,PS3,BA1
L	4	74310844	rs2298839	A	G	222	PASS	AFP	alpha-fetoprotein	splicing	NM_001134	NM_001134:exon7:c.843+5A>G	.	.	ENST00000395792.2,ENST00000226359.2	.	4q13.3	.	.	.	.	.	rs2298839	.	.	0.664452	0.6667	0.51238	0.5246	0.5462	0.6867	0.649311148545	0.663461783654	.	.	.	.	.	.	.	.	-0.124	0.230	.	.	AC=30;AN=40;BQB=0.898956;DP4=59,56,189,147;DP=641;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898956;SF=0,1,2,4,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,24;SGB=-0.670168;VDB=0.412662	GT:DP:DV:PL	0/1:22:10:255,0,255	1/1:19:19:255,57,0	0/1:17:9:255,0,255	.	0/1:29:17:255,0,255	1/1:30:30:255,90,0	0/1:15:9:231,0,205	.	0/1:19:11:255,0,204	0/1:23:11:255,0,255	0/1:29:16:255,0,255	1/1:27:27:255,81,0	1/1:16:16:255,48,0	.	0/1:25:8:243,0,255	1/1:25:25:255,75,0	1/1:20:20:255,60,0	1/1:18:18:255,54,0	1/1:25:25:255,75,0	0/1:28:14:255,0,255	1/1:18:18:255,54,0	0/1:21:8:231,0,255	.	.	1/1:25:25:255,75,0	A	G	10	10	[Hereditary persistence of alpha-fetoprotein], 615970 (3); Alpha-fetoprotein deficiency, 615969 (3)	.	Cirrhosis, association with(CS104426)	IVS7 ds A-G +5|c.843+5A>G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19968979&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	19968979|25525159|24120489|18854864|18669658|15626755|15280901|14699509|12297623|7684942|7543998|6205824|6192711|6192439|6187626|6186903|6182563|6172714|6170978|6170120|6167988|6154931|6085063|2580830|2452956|2436661|2436297|2435718|2431238|2415443|67170|57576	.	.	.	.	PID_P73PATHWAY;PID_HNF3BPATHWAY;PID_REG_GR_PATHWAY;PID_P53DOWNSTREAMPATHWAY	.	.	PS1,PS3,BA1
L	4	80905990	rs12647691	C	G	227.28	PASS	ANTXR2	anthrax toxin receptor 2	exonic	NM_001145794,NM_001286780,NM_001286781,NM_058172	.	missense SNV	ANTXR2:NM_001145794:exon13:c.G1069C:p.A357P,ANTXR2:NM_001286780:exon13:c.G838C:p.A280P,ANTXR2:NM_001286781:exon13:c.G838C:p.A280P,ANTXR2:NM_058172:exon13:c.G1069C:p.A357P	ENST00000403729.2,ENST00000346652.6,ENST00000307333.7,ENST00000404191.1	.	4q21.21	.	.	.	.	.	rs12647691	.	.	0.960133	0.9613	0.802716	0.7102	0.7699	0.9468	0.94869812098	0.9531251875	1.0,T	0.0,B	0.0,B	0.999998,P	0.000000,N	-2.005,N	1.02,T	6.1243	0.287	2.241	.	2.85	AC=47;AN=50;BQB=1;DP4=23,15,316,225;DP=835;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.970151;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.00578751	GT:DP:DV:PL	1/1:30:30:255,90,0	1/1:17:17:255,51,0	1/1:15:15:255,45,0	1/1:34:34:255,102,0	1/1:26:26:255,78,0	1/1:27:27:255,81,0	1/1:16:16:255,48,0	1/1:22:22:255,66,0	0/1:23:12:255,0,255	0/1:25:13:255,0,255	1/1:25:25:255,75,0	1/1:23:23:255,69,0	1/1:12:12:255,36,0	1/1:14:14:255,42,0	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:29:29:255,87,0	0/1:24:9:255,0,255	1/1:27:27:255,81,0	1/1:14:14:255,42,0	1/1:22:22:255,66,0	1/1:28:28:255,84,0	1/1:13:13:255,39,0	1/1:26:26:255,78,0	1/1:34:34:255,102,0	C	G	22	3	Hyaline fibromatosis syndrome, 228600 (3)	.	Anthrax toxin sensitivity, association with(CM121492)	GCC-CCC|Ala357Pro|c.1069G>C|p.A357P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22315420&dopt=Abstract)	22315420|22383261|20353455|19965467|19191226|16141341|15243628|14508707|12973667|12700348|11683410	.	.	.	.	PID_ANTHRAXPATHWAY	.	.	PS1,PS3,BA1
L	4	88534065	rs3750025	G	A	191.06	PASS	DSPP	dentin sialophosphoprotein	exonic	NM_014208	.	missense SNV	DSPP:NM_014208:exon4:c.G727A:p.D243N	ENST00000506480.1,ENST00000282478.7,ENST00000399271.1	.	4q22.1	.	.	.	.	.	rs3750025	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000178290.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.415282	0.3651	0.105032	0.0214	0.0557	0.3810	0.381316964778	0.406249800481	.	0.795,P	0.994,D	0.930705,P	.	0.625,N	-3.06,D	12.3912	1.146	2.779	3.443952,23.0	3.74	AC=22;AN=34;BQB=0.921243;DP4=67,35,113,64;DP=371;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97357;SF=0,4,5,7,8,9,12,13,14,15,17,18,19,20,21,22,24;SGB=-0.636426;VDB=0.853601	GT:DP:DV:PL	0/1:15:7:169,0,230	.	.	.	0/1:21:11:255,0,255	0/1:18:11:255,0,206	.	0/1:16:9:251,0,162	0/1:19:4:88,0,255	1/1:12:12:255,36,0	.	.	1/1:18:18:255,54,0	1/1:15:15:255,45,0	1/1:8:8:233,24,0	0/1:19:11:255,0,167	.	0/1:11:6:179,0,131	0/1:15:7:186,0,243	1/1:19:19:255,57,0	0/1:17:8:206,0,209	0/1:26:16:255,0,255	0/1:15:7:178,0,249	.	0/1:15:8:251,0,183	G	A	5	12	Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420 (3)	.	Dental disorder, non-syndromic(CM129769)	GAT-AAT|Asp243Asn|c.727G>A|p.D243N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23018043&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18797159&dopt=Abstract)	23018043|18797159|22582013|22392858|18456718|17210923|15954904|15592686|14758537|12721295|12354781|11175790|11175779|11175770|11116156|10706475|9533027|8995371|8995371|7573043|2462619|2433419	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;COLLAGEN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	.	.	.	PS1,PS3,BA1
L	4	88929453	rs117078377	G	A	93.1	PASS	PKD2	polycystic kidney disease 2 (autosomal dominant)	exonic	NM_000297	.	missense SNV	PKD2:NM_000297:exon1:c.G568A:p.A190T	ENST00000237596.2	CpG: 127	4q22.1	.	.	.	.	.	rs117078377	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000078583.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.440199	0.376	0.102835	.	0.0632	0.4462	0.342266454824	0.450720947115	0.435,T	0.444,B	0.907,P	0.0135472,P	0.000057,D	0.895,L	-0.17,T	15.0174	2.093	3.103	3.123520,22.6	4.07	AC=13;AN=20;BQB=0.5;DP4=6,10,14,23;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.5;SF=0,5,6,8,9,16,20,21,23,24;SGB=-0.453602;VDB=0.66	GT:DP:DV:PL	0/1:4:2:85,0,56	.	.	.	.	0/1:6:3:110,0,130	0/1:6:4:165,0,50	.	0/1:7:4:121,0,74	1/1:5:5:129,15,0	.	.	.	.	.	.	0/1:6:3:110,0,119	.	.	.	1/1:5:5:161,15,0	1/1:5:5:183,15,0	.	0/1:5:4:100,0,22	0/1:4:2:85,0,62	G	A	3	7	Polycystic kidney disease 2, 613095 (3)	.	Polycystic kidney disease 2(CM044027)	GCG-ACG|Ala190Thr|c.568G>A|p.A190T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15192819&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22008521&dopt=Abstract)	15192819|20981092|22008521|23892607|23390131|22983710|21719175|21685914|20215348|19879844|19801576|19193631|18664456|18635443|18552856|18178578|17404231|16311606|15843396|15770226|12874107|12859898|12840011|12640140|12514736|12514735|12140187|12062060|12007403|11901144|11854751|11772999|11252306|11158545|11156533|11140688|10835625|10760273|10655555|10615132|10541293|10417277|9949210|9773786|9573526|9402976|9339380|9326320|9286709|9192675|9175744|9171830|8954772|8650545|8005596|2215575|1975629|1360045	SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;CELL_SUBSTRATE_ADHESION;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;CATION_TRANSPORT;ION_TRANSPORT;ORGAN_DEVELOPMENT	CELL_PROJECTION_PART;MICROTUBULE_CYTOSKELETON;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;MICROTUBULE_ORGANIZING_CENTER;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_BINDING;CATION_CHANNEL_ACTIVITY;CALCIUM_ION_BINDING;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;ION_BINDING;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;CHLORIDE_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	4	89052323	rs2231142	G	T	222.8	PASS	ABCG2	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	exonic	NM_001257386,NM_004827	.	missense SNV	ABCG2:NM_001257386:exon5:c.C421A:p.Q141K,ABCG2:NM_004827:exon5:c.C421A:p.Q141K	ENST00000237612.3,ENST00000515655.1	.	4q22.1	.	.	.	.	.	rs2231142	CLINSIG=other|other;CLNDBN=Uric_acid_concentration\x2c_serum\x2c_quantitative_trait_locus_1|Blood_group\x2c_Junior_system;CLNACC=RCV000023341.2|RCV000023342.2;CLNDSDB=MedGen:OMIM|MedGen:OMIM;CLNDSDBID=C1841837:138900|C3280986:614490	Urate levels,Urate levels in lean individuals,Gout,Urate levels in obese individuals,Serum uric acid levels,Uric acid levels,Urate levels in overweight individuals	0.262458	0.2907	0.119409	0.0845	0.1180	0.3007	0.277182165391	0.284855355769	0.137,T	0.219,B	0.442,B	0.0292291,P	0.000050,D	0.33,N	1.14,T	19.0867	2.677	1.744	2.304559,18.20	5.37	AC=17;AN=30;BQB=0.856268;DP4=192,76,241,102;DP=837;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.79727;SF=2,4,5,6,7,8,9,12,15,18,20,21,22,23,24;SGB=-0.680642;VDB=0.065806	GT:DP:DV:PL	.	.	0/1:28:12:255,0,255	.	0/1:51:24:255,0,255	1/1:53:53:255,160,0	0/1:47:19:255,0,255	0/1:38:18:255,0,255	0/1:35:18:255,0,255	0/1:32:17:255,0,255	.	.	0/1:42:23:255,0,255	.	.	1/1:36:36:255,108,0	.	.	0/1:43:25:255,0,255	.	0/1:39:21:255,0,255	0/1:47:20:255,0,255	0/1:28:13:255,0,255	0/1:46:17:255,0,255	0/1:46:27:255,0,255	G	T	2	13	[Junior blood group system], 614490 (3); [Uric acid concentration, serum, QTL1], 138900 (3)	24513273(3E-42);23263486(1E-134);22229870(5E-6);21983786(2E-20);21983786(3E-12);19503597(2E-18);19503597(1E-10);18834626(3E-60)	Gout, association with(CM057428)	CAG-AAG|Gln141Lys|c.421C>A|p.Q141K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18834626&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22472121&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22937733&dopt=Abstract)	18834626|22472121|22937733|22246507|22246505|20628378|20368174|19506252|18834626|17353904|16702730|15685169|15044468|12429862|12374800|12054514|11566359|11437380|9892175|9861027|9850061	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;PURINE_NUCLEOTIDE_BINDING;IDENTICAL_PROTEIN_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_HIF2PATHWAY;PID_HIF1_TFPATHWAY	.	REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT	PS1,PS3,BA1
L	4	95170839	rs11722476	G	A	167.69	PASS	SMARCAD1	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	exonic	NM_001128429,NM_001128430,NM_020159	.	missense SNV	SMARCAD1:NM_001128429:exon7:c.G740A:p.S247N,SMARCAD1:NM_001128430:exon7:c.G740A:p.S247N,SMARCAD1:NM_020159:exon7:c.G740A:p.S247N	ENST00000457823.2,ENST00000354268.4	.	4q22.3	.	.	.	.	.	rs11722476	.	.	0.69103	0.7024	0.461462	0.3404	0.4560	0.7183	0.678407592649	0.698317295673	0.498,T	0.0,B	0.0,B	0.999788,P	0.526156,N	-0.205,N	3.46,T	2.2078	0.069	0.161	1.304122,12.29	.	AC=34;AN=44;BQB=0.0857407;DP4=35,25,115,65;DP=330;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;MQSB=1;RPB=0.925999;SF=0,1,2,3,4,5,6,7,8,9,11,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.697793	GT:DP:DV:PL	0/1:14:7:171,0,249	1/1:13:13:255,39,0	1/1:11:11:255,33,0	0/1:10:6:184,0,130	1/1:8:8:255,24,0	0/1:16:9:255,0,223	1/1:15:15:255,45,0	1/1:14:14:255,42,0	0/1:13:6:152,0,239	1/1:13:13:255,39,0	.	1/1:10:10:255,30,0	.	.	0/1:6:2:56,0,135	0/1:9:3:79,0,182	1/1:11:11:255,33,0	1/1:9:9:255,27,0	0/1:13:6:190,0,173	0/1:6:2:73,0,141	1/1:10:10:255,30,0	0/1:8:2:73,0,181	1/1:10:10:255,30,0	1/1:10:10:255,30,0	0/1:11:3:55,0,255	G	A	12	10	Adermatoglyphia, 136000 (3)	.	Capecitabine sensitivity, association with(CM127898)	AGT-AAT|Ser247Asn|c.740G>A|p.S247N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22864933&dopt=Abstract)	22864933|24909267|24664640|22960744|21820097|20619487|18675275|11031099|10574461	DNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_DNA_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;DNA_RECOMBINATION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	4	100239319	rs1229984	T	C	208.62	PASS	ADH1B	alcohol dehydrogenase 1B (class I), beta polypeptide	exonic	NM_000668,NM_001286650	.	missense SNV	ADH1B:NM_000668:exon3:c.A143G:p.H48R,ADH1B:NM_001286650:exon4:c.A23G:p.H8R	ENST00000305046.8,ENST00000394887.3,ENST00000504498.1	.	4q23	.	.	.	.	.	rs1229984	CLINSIG=other|other;CLNDBN=Alcohol_dependence|AERODIGESTIVE_TRACT_CANCER\x2c_SQUAMOUS_CELL\x2c_ALCOHOL-RELATED\x2c_PROTECTION_AGAINST;CLNACC=RCV000019813.1|RCV000019814.2;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C0001973:103780|CN071716	Upper aerodigestive tract cancers,Alcohol consumption,Alcohol dependence,Esophageal cancer	0.297342	0.3026	0.841454	0.9635	0.9064	0.2667	0.297855715161	0.313701855769	0.751,T	0.0,B	0.0,B	0.151571,P	0.001009,N	.	3.52,T	10.5345	0.318	2.010	.	3.57	AC=16;AN=26;BQB=0.93961;DP4=108,38,142,70;DP=514;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.734174;SF=2,3,4,5,6,10,11,12,13,17,19,20,23;SGB=-0.692352;VDB=0.772031	GT:DP:DV:PL	.	.	0/1:36:21:255,0,255	1/1:24:24:255,72,0	1/1:23:23:255,69,0	0/1:21:7:173,0,255	0/1:28:13:255,0,255	.	.	.	0/1:41:21:255,0,255	1/1:32:32:255,96,0	0/1:17:16:255,0,9	0/1:26:8:183,0,255	.	.	.	0/1:18:9:221,0,255	.	0/1:21:10:255,0,255	0/1:35:10:255,0,255	.	.	0/1:36:18:255,0,255	.	T	C	3	10	{Alcohol dependence, protection against}, 103780 (3); {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)	23743675(2E-8);23456092(3E-21);21437268(1E-20);19698717(8E-24)	Alcohol dehydrogenase beta variant(CM890003)	CAC-CGC|His48Arg|c.143A>G|p.H48R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2547609&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19826048&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22560290&dopt=Abstract)	2547609|19826048|22560290|19124091|18996923|18500343|18056758|17923853|17847010|17718394|17273965|16614111|16571603|15863807|15534263|12452180|12244546|12050823|11545539|10441588|10090900|8834237|8834233|7635462|7035335|7003596|6987864|6374651|6370230|6354175|6330735|4748759|4313164|3619918|3397059|3000832|2986130|2935875|2934088|2748595|2547609|2398055|1733836|1200030	ALCOHOL_METABOLIC_PROCESS	.	CATION_BINDING;ZINC_ION_BINDING;OXIDOREDUCTASE_ACTIVITY_GO_0016616;ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;ION_BINDING;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;TRANSITION_METAL_ION_BINDING	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_FATTY_ACID_METABOLISM;KEGG_TYROSINE_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ETHANOL_OXIDATION	PS1,PS3,BA1
L	4	100268190	rs283413	A	C	218.24	PASS	ADH1C	alcohol dehydrogenase 1C (class I), gamma polypeptide	exonic	NM_000669	.	unknown	UNKNOWN	ENST00000510055.1,ENST00000515683.1	.	4q23	.	.	.	.	.	rs283413	CLINSIG=other;CLNDBN=Parkinson_disease\x2c_mitochondrial;CLNACC=RCV000019812.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838867:556500	.	0.998339	0.999	0.992812	0.9916	0.9848	0.9995	0.998339	0.995192533654	.	.	.	.	.	.	.	.	0.806	5.209	.	3.53	AC=49;AN=50;BQB=0.984496;DP4=9,0,344,36;DP=505;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.431591;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69168;VDB=0.06689	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:16:16:255,48,0	1/1:14:14:255,39,0	1/1:27:27:255,81,0	1/1:11:11:255,33,0	1/1:11:11:255,33,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:22:22:255,66,0	1/1:7:7:237,21,0	1/1:16:16:255,48,0	1/1:22:22:255,66,0	1/1:13:13:245,39,0	1/1:11:11:255,33,0	1/1:11:11:252,33,0	1/1:18:18:255,54,0	1/1:15:15:255,45,0	0/1:15:6:135,0,187	1/1:16:16:255,48,0	1/1:12:12:255,36,0	1/1:23:23:255,69,0	1/1:12:12:211,36,0	1/1:10:10:255,30,0	1/1:20:20:255,60,0	1/1:9:9:212,27,0	A	C	24	1	{Alcohol dependence, protection against}, 103780 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	Parkinson disease, association with(CM050165)	GGA-TGA|Gly78Term|c.232G>T|p.G78*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15642852&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20101753&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	15642852|20101753|25525159|19193628|17923853|17718394|15863807|15642852|12884000|11207350|10090900|9126489|6387702|5072686|4748759|3758060|3397059|2935875|1275443|518534	.	.	.	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_FATTY_ACID_METABOLISM;KEGG_TYROSINE_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ETHANOL_OXIDATION	PS1,PS3,BA1
L	4	100504664	rs3816873	T	C	173.88	PASS	MTTP	microsomal triglyceride transfer protein	exonic	NM_000253,NM_001300785	.	missense SNV	MTTP:NM_001300785:exon3:c.T464C:p.I155T,MTTP:NM_000253:exon4:c.T383C:p.I128T	ENST00000457717.1,ENST00000265517.5,ENST00000422897.2,ENST00000511045.1	.	4q23	.	.	.	.	.	rs3816873	CLINSIG=other|other;CLNDBN=Metabolic_syndrome\x2c_protection_against|not_specified;CLNACC=RCV000015310.3|RCV000117636.3;CLNDSDB=MedGen|MedGen;CLNDSDBID=C1970051|CN169374	.	0.134551	0.1359	0.2498	0.2627	0.2504	0.1406	0.133230865237	0.131009221154	0.493,T	0.008,B	0.007,B	1,P	0.668429,N	1.295,L	1.13,T	10.3303	2.081	0.991	1.198151,11.74	4.1	AC=9;AN=16;BQB=0.700298;DP4=33,20,43,21;DP=160;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.800884;SF=2,3,4,6,14,18,20,24;SGB=-0.676189;VDB=0.48517	GT:DP:DV:PL	.	.	1/1:11:11:255,33,0	0/1:18:8:180,0,255	0/1:20:9:245,0,255	.	0/1:11:5:190,0,178	.	.	.	.	.	.	.	0/1:9:5:178,0,128	.	.	.	0/1:17:8:209,0,255	.	0/1:9:5:137,0,133	.	.	.	0/1:22:13:255,0,255	T	C	1	7	Abetalipoproteinemia, 200100 (3); {Metabolic syndrome, protection against}, 605552 (3)	.	Diabetes, type 2, association with(CM062884)	ATC-ACC|Ile128Thr|c.383T>C|p.I128T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16721486&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21438662&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16617174&dopt=Abstract)	16721486|21438662|16617174|17460234|17460234|17275380|17215532|16721486|12630961|10946006|10446076|10225972|9467817|8939939|8660984|8533758|8361539|8111381|4135110|2903181|2351674|1439810	LIPID_METABOLIC_PROCESS	.	.	.	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	4	123536963	rs4833837	G	A	216.17	PASS	IL21	interleukin 21	exonic	NM_001207006,NM_021803	.	synonymous SNV	IL21:NM_001207006:exon3:c.C234T:p.C78C,IL21:NM_021803:exon3:c.C234T:p.C78C	ENST00000264497.3	.	4q27	.	.	.	.	.	rs4833837	.	.	0.885382	0.8869	0.840455	0.7653	0.7434	0.8831	0.87672269219	0.881009512019	.	.	.	.	.	.	.	.	0.895	0.535	1.100864,11.22	5.12	AC=43;AN=48;BQB=0.186356;DP4=20,17,166,185;DP=526;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.372712;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.010018	GT:DP:DV:PL	1/1:24:24:255,72,0	1/1:19:19:255,57,0	1/1:10:10:255,30,0	1/1:26:26:255,78,0	1/1:14:14:255,42,0	1/1:15:15:255,45,0	0/1:12:6:140,0,216	1/1:17:17:255,51,0	0/1:15:8:229,0,246	1/1:16:16:255,48,0	.	1/1:15:15:255,45,0	0/1:17:10:253,0,159	1/1:14:14:255,42,0	1/1:11:11:255,33,0	1/1:15:15:255,45,0	1/1:22:22:255,66,0	1/1:11:11:255,33,0	0/1:21:11:239,0,255	1/1:17:17:255,51,0	1/1:13:13:255,39,0	1/1:24:24:255,72,0	1/1:6:6:221,18,0	0/1:13:6:194,0,232	1/1:21:21:255,63,0	G	A	19	5	?Immunodeficiency, common variable, 11, 615767 (3)	.	Asthma, atopic, association with(CM092574)	TGC-TGT|Cys78Cys|c.234C>T|p.C78C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18802358&dopt=Abstract)	18802358|24746753|24446516|24159173|23064231|19684581|19478140|19443735|19423777|19075398|18469800|17581589|17581588|17509926|17234735|17015683|15684054|12682241|11970879|11081504	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_DEVELOPMENT;CELL_ACTIVATION;T_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;DEVELOPMENTAL_MATURATION;REGULATION_OF_T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;LEUKOCYTE_ACTIVATION;POSITIVE_REGULATION_OF_T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_LYMPHOCYTE_ACTIVATION;CELL_PROLIFERATION_GO_0008283;IMMUNE_SYSTEM_PROCESS;REGULATION_OF_T_CELL_PROLIFERATION;T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_LYMPHOCYTE_ACTIVATION;LYMPHOCYTE_ACTIVATION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_IMMUNE_SYSTEM_PROCESS;CELL_MATURATION;REGULATION_OF_CELL_PROLIFERATION	.	HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_BINDING;RECEPTOR_BINDING;CYTOKINE_ACTIVITY;GROWTH_FACTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	.	.	.	PS1,PS3,BA1
L	4	149357475	rs5522	C	T	223.44	PASS	NR3C2	nuclear receptor subfamily 3, group C, member 2	exonic	NM_000901,NM_001166104	.	missense SNV	NR3C2:NM_000901:exon2:c.G538A:p.V180I,NR3C2:NM_001166104:exon2:c.G538A:p.V180I	ENST00000344721.4,ENST00000511528.1,ENST00000355292.3,ENST00000358102.3,ENST00000512865.1	.	4q31.23	.	.	Score=892;Name=V$AHRARNT_01	.	.	rs5522	.	.	0.862126	0.8542	0.891973	0.8976	0.8812	0.8561	0.856048744257	0.854567237981	1.0,T	0.001,B	0.001,B	1,P	0.957727,N	.	-2.04,D	7.6146	-1.398	-0.380	.	.	AC=41;AN=50;BQB=0.97531;DP4=164,100,684,474;DP=1901;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.618063;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.273871	GT:DP:DV:PL	0/1:61:31:255,0,255	1/1:52:52:255,157,0	1/1:50:50:255,151,0	1/1:54:54:255,163,0	1/1:48:48:255,144,0	1/1:74:74:255,223,0	1/1:66:66:255,199,0	1/1:56:56:255,169,0	1/1:47:47:255,141,0	0/1:41:15:255,0,255	1/1:56:56:255,169,0	1/1:60:60:255,181,0	1/1:55:55:255,166,0	1/1:43:43:255,129,0	0/1:63:32:255,0,255	0/1:57:29:255,0,255	0/1:63:29:255,0,255	1/1:46:46:255,138,0	0/1:62:28:255,0,255	1/1:55:55:255,166,0	0/1:56:25:255,0,255	0/1:84:47:255,0,255	0/1:22:9:195,0,255	1/1:76:76:255,229,0	1/1:75:75:255,223,0	C	T	16	9	Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3); Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)	.	Reduced expression(CM030066)	ATT-GTT|Ile180Val|c.538A>G|p.I180V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12483305&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22407082&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=&dopt=Abstract)	12483305|22407082|19223584|19029984|16972228|16954160|16611713|16368758|15126534|14715854|12915681|12788847|12679457|12483305|11518808|11495902|11344206|11134129|10935545|10884226|9724527|9689096|9662404|9141514|7673127|7593448|7495694|3037703|2558856|2162806|1655735	SIGNAL_TRANSDUCTION	.	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
L	4	187120211	rs13146272	C	A	224.06	PASS	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	exonic	NM_207352	.	missense SNV	CYP4V2:NM_207352:exon6:c.C775A:p.Q259K	ENST00000378802.4	.	4q35.2	.	.	.	.	.	rs13146272	.	.	0.418605	0.4127	0.559305	0.6282	0.5852	0.3977	0.394334249617	0.395433052885	1.0,T	0.001,B	0.0,B	0.999983,P	0.000003,N	-2.155,N	-0.18,T	5.9923	-0.202	2.243	.	.	AC=25;AN=36;BQB=0.973145;DP4=77,76,201,165;DP=738;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.646905;SF=0,1,2,3,5,7,8,9,10,12,13,14,16,17,20,21,23,24;SGB=-0.692067;VDB=0.0709815	GT:DP:DV:PL	0/1:35:20:255,0,255	1/1:33:33:255,99,0	0/1:28:20:255,0,225	0/1:25:13:255,0,255	.	0/1:27:14:255,0,255	.	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:25:25:255,75,0	1/1:26:26:255,78,0	.	0/1:32:19:255,0,255	0/1:26:17:255,0,255	1/1:24:24:255,72,0	.	0/1:34:17:255,0,255	0/1:22:9:251,0,255	.	.	1/1:28:28:255,84,0	0/1:42:21:255,0,255	.	0/1:30:15:255,0,255	0/1:29:12:255,0,255	C	A	7	11	Bietti crystalline corneoretinal dystrophy, 210370 (3)	.	Deep vein thrombosis, reduced risk, association with(CM087586)	AAG-CAG|Lys259Gln|c.775A>C|p.K259Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18349091&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21232005&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20124536&dopt=Abstract)	18349091|21232005|20124536|23661369|22693542|15937078|15042513|11001583	.	.	.	.	.	.	.	PS1,PS3,BA1
L	4	187122319	rs3736455	T	G	215.11	PASS	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	exonic	NM_207352	.	synonymous SNV	CYP4V2:NM_207352:exon7:c.T810G:p.A270A	ENST00000378802.4	.	4q35.2	.	.	.	.	.	rs3736455	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153131.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.415282	0.4077	0.577476	0.6399	0.5982	0.3968	0.375957185299	0.388220786058	.	.	.	.	.	.	.	.	-0.403	-0.499	.	.	AC=26;AN=36;BQB=0.992185;DP4=134,26,299,62;DP=724;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979496;SF=0,1,2,3,5,7,8,9,10,12,13,14,16,17,20,21,23,24;SGB=-0.692717;VDB=0.0396082	GT:DP:DV:PL	0/1:37:23:255,0,255	1/1:19:19:255,57,0	0/1:33:16:255,0,255	0/1:27:12:171,0,232	.	0/1:34:18:255,0,255	.	1/1:28:28:255,84,0	1/1:22:22:255,66,0	1/1:29:29:255,87,0	1/1:28:28:255,84,0	.	0/1:23:12:255,0,255	0/1:14:6:167,0,231	1/1:22:22:255,66,0	.	0/1:36:15:255,0,255	1/1:24:24:255,72,0	.	.	1/1:39:39:255,117,0	0/1:35:15:255,0,255	.	0/1:31:15:255,0,255	0/1:40:18:255,0,255	T	G	8	10	Bietti crystalline corneoretinal dystrophy, 210370 (3)	.	Retinal dystrophy(CD152993)	AG_IE_GTC^269ATCGCtGAACGGGCCA|c.810delT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25356976&dopt=Abstract)	25356976|23661369|22693542|15937078|15042513|11001583	.	.	.	.	.	.	.	PS1,PS3,BA1
L	4	187158034	rs3733402	G	A	222.8	PASS	KLKB1	kallikrein B, plasma (Fletcher factor) 1	exonic	NM_000892	.	missense SNV	KLKB1:NM_000892:exon5:c.G428A:p.S143N	ENST00000513864.1,ENST00000264690.6	.	4q35.2	.	.	.	.	.	rs3733402	CLINSIG=Pathogenic;CLNDBN=Prekallikrein_deficiency;CLNACC=RCV000012817.25;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C0272339:612423:749:48976006	Serum metabolite levels,B-type natriuretic peptide,Obesity-related traits	0.704319	0.6825	0.604633	0.5845	0.5365	0.6668	0.655436280245	0.685096307692	1.0,T	0.001,B	0.0,B	1,P	0.000039,N	.	-2.33,D	9.2036	0.902	3.749	.	4.91	AC=39;AN=50;BQB=0.931441;DP4=173,50,563,127;DP=1288;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.584435;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.964688	GT:DP:DV:PL	1/1:39:39:255,117,0	0/1:32:16:255,0,255	0/1:38:21:255,0,255	1/1:37:37:255,111,0	0/1:34:13:221,0,255	0/1:35:21:255,0,255	0/1:39:20:255,0,255	0/1:49:16:255,0,255	1/1:32:32:255,96,0	1/1:26:26:255,78,0	0/1:36:15:255,0,255	0/1:41:21:255,0,255	1/1:22:22:255,66,0	0/1:40:19:255,0,255	1/1:42:42:255,126,0	1/1:41:41:255,123,0	1/1:47:47:255,141,0	1/1:23:23:255,69,0	1/1:42:42:255,126,0	0/1:35:13:227,0,255	1/1:44:44:255,132,0	1/1:38:38:255,114,0	1/1:12:12:255,36,0	0/1:47:28:255,0,255	1/1:42:42:255,126,0	G	A	14	11	Fletcher factor (prekallikrein) deficiency, 612423 (3)	24625756(9E-27);24625756(7E-25);23251661(9E-8)	Prekallikrein deficiency(CM073166)	AAT-AGT|Asn143Ser|c.428A>G|p.N143S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17598838&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23251661&dopt=Abstract)	17598838|20981092|23251661|17598838|15461630|14652634|12780784|11344577|11031105|8662673|5845778|5439523|4762550|3521732|3096985|1993180	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_INTRINSIC_PATHWAY	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	5	1216900	rs35329108	G	A	222.45	PASS	SLC6A19	solute carrier family 6 (neutral amino acid transporter), member 19	splicing	NM_001003841	NM_001003841:exon8:c.1017-4G>A	.	.	ENST00000304460.10	CpG: 32	5p15.33	.	.	.	.	.	rs35329108	.	.	0.147841	0.1468	0.21905	0.2640	0.2176	0.1414	0.12557443951	0.145432911058	.	.	.	.	.	.	.	.	-2.169	-0.560	.	.	AC=12;AN=22;BQB=0.998357;DP4=171,131,176,141;DP=806;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.562127;SF=8,9,11,12,14,17,18,19,20,22,24;SGB=-0.693054;VDB=0.0932619	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:56:28:255,0,255	1/1:41:41:255,123,0	.	0/1:38:12:255,0,255	0/1:59:21:255,0,255	.	0/1:69:39:255,0,255	.	.	0/1:46:25:255,0,255	0/1:59:35:255,0,255	0/1:68:28:255,0,255	0/1:67:34:255,0,255	.	0/1:37:15:255,0,255	.	0/1:79:39:255,0,255	G	A	1	10	Hartnup disorder, 234500 (3); Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3)	.	Iminoglycinuria, association with(CS086104)	IVS7 as G-A -4|c.1017-4G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19033659&dopt=Abstract)	19033659|21636576|19033659|15286788|15286787|15044460	.	.	.	.	.	.	REACTOME_AMINO_ACID_TRANSPORT_ACROSS_THE_PLASMA_MEMBRANE;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS;REACTOME_NA_CL_DEPENDENT_NEUROTRANSMITTER_TRANSPORTERS;REACTOME_AMINE_COMPOUND_SLC_TRANSPORTERS	PS1,PS3,BA1
L	5	7897191	rs10380	C	T	222.75	PASS	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	exonic	NM_002454,NM_024010	.	missense SNV	MTRR:NM_002454:exon14:c.C1783T:p.H595Y,MTRR:NM_024010:exon14:c.C1864T:p.H622Y	ENST00000440940.2,ENST00000264668.2	.	5p15.31	.	.	Score=682;Name=V$P53_01	.	.	rs10380	CLINSIG=Benign|Uncertain significance;CLNDBN=not_specified|Gastrointestinal_Stromal_Tumors;CLNACC=RCV000126880.2|RCV000144924.1;CLNDSDB=MedGen|MedGen:OMIM:ORPHA;CLNDSDBID=CN169374|C0238198:606764:44890	.	0.136213	0.1399	0.219449	0.1731	0.1509	0.1563	0.157733514548	0.139423324519	0.12,T	0.004,B	0.001,B	0.99999,P	0.437792,N	1.26,L	-2.14,D	11.1227	1.264	0.532	.	4.53	AC=9;AN=16;BQB=0.493254;DP4=88,46,87,53;DP=358;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.94394;SF=0,12,16,18,19,20,21,24;SGB=-0.683931;VDB=0.91697	GT:DP:DV:PL	0/1:27:13:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:32:14:255,0,255	.	.	.	0/1:36:13:255,0,255	.	0/1:33:17:255,0,255	1/1:29:29:255,87,0	0/1:32:17:255,0,255	0/1:52:18:255,0,255	.	.	0/1:33:19:255,0,255	C	T	1	7	Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)	.	Pancreatic cancer, increased risk, association with(CM083724)	CAT-TAT|His595Tyr|c.1783C>T|p.H595Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18515090&dopt=Abstract)	18515090|16769880|15979034|15714522|12923861|12555939|12375236|10930360|10500018|10484769|10444342|9501215|6700644|2860337|1060915	GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118	CYTOPLASMIC_PART;CYTOPLASM;CYTOSOL	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ELECTRON_CARRIER_ACTIVITY;ADENYL_NUCLEOTIDE_BINDING;OXIDOREDUCTASE_ACTIVITY;COFACTOR_BINDING;COENZYME_BINDING	.	.	.	.	PS1,PS3,BA1
L	5	33963870	rs26722	C	T	218.8	PASS	SLC45A2	solute carrier family 45, member 2	exonic	NM_001012509,NM_016180	.	missense SNV	SLC45A2:NM_001012509:exon3:c.G814A:p.E272K,SLC45A2:NM_016180:exon3:c.G814A:p.E272K	ENST00000296589.4,ENST00000509381.1,ENST00000382102.3,ENST00000342059.3,ENST00000345083.5	.	5p13.2	.	.	.	.	.	rs26722	CLINSIG=other;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_5;CLNACC=RCV000004762.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2673584:227240	.	0.413621	0.3909	0.178115	0.0280	0.1070	0.3935	0.399693551302	0.409855579327	0.213,T	0.009,B	0.006,B	5.103e-06,P	0.123023,N	1.175,L	-3.23,D	9.8671	0.112	1.765	1.689629,14.35	2.14	AC=19;AN=30;BQB=0.858022;DP4=133,32,213,61;DP=626;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.41613;SF=0,1,4,6,9,10,13,15,16,17,18,19,20,23,24;SGB=-0.693021;VDB=0.610065	GT:DP:DV:PL	1/1:27:27:255,81,0	0/1:31:16:255,0,255	.	.	1/1:28:28:255,84,0	.	1/1:17:17:255,51,0	.	.	0/1:33:13:255,0,255	0/1:33:10:234,0,255	.	.	0/1:24:9:233,0,255	.	0/1:33:13:255,0,255	0/1:19:12:255,0,196	0/1:28:21:255,0,195	0/1:33:18:255,0,204	0/1:21:11:228,0,252	0/1:33:18:255,0,255	.	.	0/1:32:14:255,0,255	1/1:47:47:255,141,0	C	T	4	11	Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3); [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3); [Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)	.	Pigmentation variation, association with(CM051555)	GAG-AAG|Glu272Lys|c.814G>A|p.E272K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15714523&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23071798&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22071478&dopt=Abstract)	15714523|23071798|22071478|23707431|19578363|18683857|18563784|17999355|17943131|17358008|17044855|16868655|16162179|15714523|14961451|14722913|14070830|11700328|11574907|11479596|11221837	.	.	.	.	.	.	.	PS1,PS3,BA1
L	5	33989518	rs2278008	C	T	225.76	PASS	AMACR	alpha-methylacyl-CoA racemase	exonic	NM_001167595,NM_014324	.	missense SNV	AMACR:NM_001167595:exon5:c.G829A:p.E277K,AMACR:NM_014324:exon5:c.G829A:p.E277K	ENST00000382079.3,ENST00000382072.2,ENST00000514195.1,ENST00000335606.6,ENST00000502637.1,ENST00000382085.3	.	5p13.2	.	.	.	.	.	rs2278008	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116324.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.88206	0.876	0.696086	0.7591	0.7016	0.8556	0.87519141807	0.878605853365	0.659,T	0.001,B	0.0,B	3.31463e-09,P	0.001063,N	-0.57,N	0.75,T	6.3198	1.082	2.046	2.430924,19.02	5.7	AC=41;AN=50;BQB=0.289994;DP4=84,102,363,464;DP=1358;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.565525;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.576259	GT:DP:DV:PL	1/1:43:43:255,129,0	0/1:39:19:255,0,255	0/1:40:17:255,0,255	1/1:49:49:255,148,0	1/1:35:35:255,105,0	1/1:46:46:255,138,0	1/1:49:49:255,148,0	1/1:49:49:255,148,0	0/1:51:24:255,0,255	0/1:31:14:255,0,255	0/1:46:25:255,0,255	0/1:38:18:255,0,255	1/1:36:36:255,108,0	1/1:28:28:255,84,0	1/1:32:32:255,96,0	0/1:46:17:255,0,255	1/1:38:38:255,114,0	1/1:29:29:255,87,0	1/1:37:37:255,111,0	1/1:35:34:255,45,0	1/1:44:44:255,132,0	0/1:58:34:255,0,255	0/1:18:14:255,0,102	1/1:46:46:255,138,0	1/1:50:50:255,151,0	C	T	16	9	Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3)	.	Advanced distal colorectal adenoma, increased risk, association(CM078460)	AAG-GAG|Lys277Glu|c.829A>G|p.K277E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17684125&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12438241&dopt=Abstract)	17684125|12438241|21576695|20821052|18032455|15249642|15016763|14960364|12512044|11060344|10655068|9584266|7649182	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION;MICROBODY;PEROXISOME	.	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	5	33998883	rs2287939	A	G	222.79	PASS	AMACR	alpha-methylacyl-CoA racemase	exonic	NM_001167595,NM_014324,NM_203382	.	missense SNV	AMACR:NM_001167595:exon4:c.T602C:p.L201S,AMACR:NM_014324:exon4:c.T602C:p.L201S	ENST00000512079.1,ENST00000382079.3,ENST00000382068.3,ENST00000382072.2,ENST00000441713.2,ENST00000514195.1,ENST00000335606.6,ENST00000502637.1,ENST00000426255.2,ENST00000382085.3	.	5p13.2	.	.	.	.	.	rs2287939	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116322.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.858804	0.8512	0.714856	0.7487	0.6994	0.8286	0.853752018377	0.852163579327	0.437,T	0.007,B	0.001,B	1,P	0.089451,N	0.47,N	0.49,T	10.022	-1.333	-0.714	.	.	AC=39;AN=48;BQB=0.137552;DP4=84,61,378,333;DP=1170;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991598;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.0128666	GT:DP:DV:PL	0/1:39:24:255,0,255	0/1:38:18:255,0,255	0/1:37:21:255,0,255	1/1:42:42:255,126,0	1/1:40:40:255,120,0	1/1:36:36:255,108,0	1/1:24:24:255,72,0	1/1:37:37:255,111,0	.	0/1:29:14:210,0,255	0/1:42:17:255,0,255	1/1:38:38:255,114,0	1/1:29:29:255,87,0	1/1:38:38:255,114,0	0/1:23:10:255,0,255	0/1:30:16:255,0,255	1/1:36:36:255,108,0	1/1:35:35:255,105,0	1/1:39:39:255,117,0	1/1:42:42:255,126,0	1/1:38:38:255,114,0	0/1:46:26:255,0,255	0/1:15:8:229,0,192	1/1:39:39:255,117,0	1/1:44:44:255,132,0	A	G	15	9	Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3)	.	Advanced distal colorectal adenoma, increased risk, association(CM078459)	TCG-TTG|Ser201Leu|c.602C>T|p.S201L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17684125&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12438241&dopt=Abstract)	17684125|12438241|21576695|20821052|18032455|15249642|15016763|14960364|12512044|11060344|10655068|9584266|7649182	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION;MICROBODY;PEROXISOME	.	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	5	34004707	rs10941112	C	T	220.38	PASS	AMACR	alpha-methylacyl-CoA racemase	exonic	NM_001167595,NM_014324	.	missense SNV	AMACR:NM_001167595:exon3:c.G524A:p.G175D,AMACR:NM_014324:exon3:c.G524A:p.G175D	ENST00000512079.1,ENST00000382079.3,ENST00000382068.3,ENST00000382072.2,ENST00000441713.2,ENST00000514195.1,ENST00000335606.6,ENST00000502637.1,ENST00000426255.2,ENST00000382085.3	.	5p13.2	.	.	Score=778;Name=V$HTF_01	.	.	rs10941112	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116321.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.352159	0.3472	0.252596	0.3842	0.4108	0.3293	0.34609468147	0.340143987981	0.04,D	0.798,P	0.931,P	6.18497e-13,P	0.000000,D	3.885,H	-0.66,T	20.3206	2.809	4.413	6.787773,32	5.92	AC=17;AN=26;BQB=0.938651;DP4=87,55,184,65;DP=550;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.598779;SF=0,1,4,6,7,9,10,11,13,16,17,20,23;SGB=-0.676189;VDB=0.959312	GT:DP:DV:PL	0/1:25:11:255,0,255	0/1:40:20:255,0,255	.	.	0/1:35:17:255,0,255	.	0/1:34:16:255,0,255	1/1:38:38:255,114,0	.	0/1:22:8:215,0,255	0/1:33:11:252,0,255	1/1:35:35:255,105,0	.	0/1:26:14:255,0,255	.	.	0/1:36:17:255,0,255	0/1:18:13:255,0,151	.	.	1/1:18:18:255,54,0	.	.	1/1:31:31:255,93,0	.	C	T	4	9	Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3)	.	Altered splicing(CM099356)	GGC-GAC|Gly175Asp|c.524G>A|p.G175D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20011102&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17684125&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12438241&dopt=Abstract)	20011102|17684125|12438241|21576695|20821052|18032455|15249642|15016763|14960364|12512044|11060344|10655068|9584266|7649182	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION;MICROBODY;PEROXISOME	.	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	5	34008100	rs3195676	C	T	223.64	PASS	AMACR	alpha-methylacyl-CoA racemase	exonic	NM_001167595,NM_014324,NM_203382	.	missense SNV	AMACR:NM_001167595:exon1:c.G25A:p.V9M,AMACR:NM_014324:exon1:c.G25A:p.V9M,AMACR:NM_203382:exon1:c.G25A:p.V9M	ENST00000512079.1,ENST00000382079.3,ENST00000382068.3,ENST00000382072.2,ENST00000441713.2,ENST00000514195.1,ENST00000335606.6,ENST00000502637.1,ENST00000426255.2,ENST00000382085.3	CpG: 40	5p13.2	.	.	.	.	.	rs3195676	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116320.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.358804	0.3542	0.286941	0.4176	0.4227	0.3309	0.346094805513	0.346153723558	0.033,D	0.579,P	0.888,P	0.999959,P	0.171723,N	3.025,M	0.32,T	14.2962	-3.351	-1.232	0.941332,10.32	.	AC=18;AN=28;BQB=0.896184;DP4=154,115,266,189;DP=1040;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.891225;SF=0,1,4,6,7,9,10,11,13,14,16,17,20,23;SGB=-0.693054;VDB=0.215474	GT:DP:DV:PL	0/1:45:28:255,0,255	0/1:53:28:255,0,255	.	.	0/1:45:22:255,0,255	.	0/1:54:22:255,0,255	1/1:55:55:255,166,0	.	0/1:33:13:255,0,255	0/1:56:31:255,0,255	1/1:43:43:255,129,0	.	0/1:65:29:255,0,255	0/1:72:31:255,0,255	.	0/1:45:20:255,0,255	0/1:37:12:255,0,255	.	.	1/1:37:37:255,111,0	.	.	1/1:84:84:255,253,0	.	C	T	4	10	Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3)	.	Prostate cancer risk, association with(CM078108)	GTG-ATG|Val9Met|c.25G>A|p.V9M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17683075&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17684125&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12438241&dopt=Abstract)	17683075|17684125|12438241|21576695|20821052|18032455|15249642|15016763|14960364|12512044|11060344|10655068|9584266|7649182	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION;MICROBODY;PEROXISOME	.	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	5	35861068	rs1494558	T	C	218.22	PASS	IL7R	interleukin 7 receptor	exonic	NM_002185	.	missense SNV	IL7R:NM_002185:exon2:c.T197C:p.I66T	ENST00000511982.1,ENST00000343305.4,ENST00000303115.3,ENST00000506850.1,ENST00000511031.1	.	5p13.2	.	.	.	.	.	rs1494558	CLINSIG=Pathogenic|not provided;CLNDBN=Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified;CLNACC=RCV000015964.25|RCV000121212.1;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C1837028:608971|CN169374	.	0.433555	0.4256	0.59984	0.7009	0.6279	0.4231	0.416539330781	0.427884615385	0.881,T	0.0,B	0.0,B	0.999999,P	0.504638,N	.	-0.76,T	3.6783	0.111	0.337	.	2.16	AC=31;AN=46;BQB=0.683145;DP4=138,89,306,150;DP=994;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.495678;SF=0,1,2,3,4,6,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.689466;VDB=0.223321	GT:DP:DV:PL	0/1:30:16:255,0,255	1/1:35:35:255,105,0	0/1:32:15:255,0,255	0/1:34:17:255,0,255	0/1:40:19:255,0,255	.	1/1:20:20:255,60,0	.	1/1:23:23:255,69,0	1/1:27:27:255,81,0	1/1:34:34:255,102,0	1/1:35:35:255,105,0	0/1:19:13:255,0,179	1/1:28:28:255,84,0	0/1:20:12:255,0,250	0/1:34:16:255,0,255	1/1:41:41:255,123,0	0/1:26:15:255,0,255	0/1:26:7:160,0,255	0/1:19:9:222,0,255	0/1:29:13:255,0,255	0/1:44:20:255,0,255	0/1:19:8:250,0,255	0/1:34:16:255,0,255	0/1:34:17:255,0,255	T	C	8	15	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)	.	Acute graft versus host disease, association with(CM1111762)	ACC-ATC|Thr66Ile|c.197C>T|p.T66I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21326139&dopt=Abstract)	21326139|24094650|23791642|21892159|21536738|20062065|19494261|19029905|15504823|14625547|12872121|12433363|11418668|11023514|9843216|9495344|9005984|8692964|8266077|8128231|7964471|2317865|1634235	DNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_DNA_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS;DNA_RECOMBINATION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS	.	INTERLEUKIN_BINDING;ANTIGEN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_PRIMARY_IMMUNODEFICIENCY	.	BIOCARTA_IL7_PATHWAY	REACTOME_IL_7_SIGNALING;REACTOME_SIGNALING_BY_ILS;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	5	35871190	rs1494555	G	A	209.67	PASS	IL7R	interleukin 7 receptor	exonic	NM_002185	.	missense SNV	IL7R:NM_002185:exon4:c.G412A:p.V138I	ENST00000343305.4,ENST00000303115.3,ENST00000506850.1	.	5p13.2	.	.	.	.	.	rs1494555	CLINSIG=Pathogenic|not provided;CLNDBN=Severe_combined_immunodeficiency\x2c_autosomal_recessive\x2c_T_cell-negative\x2c_B_cell-positive\x2c_NK_cell-positive|not_specified;CLNACC=RCV000015965.25|RCV000121214.1;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C1837028:608971|CN169374	.	0.490033	0.4812	0.666933	0.7458	0.6519	0.4741	0.480091830015	0.484374778846	0.664,T	0.0,B	0.0,B	1,P	0.487950,N	.	-1.12,T	11.6995	-0.900	-0.031	.	.	AC=37;AN=48;BQB=0.999625;DP4=83,44,246,123;DP=689;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.681393;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.392815	GT:DP:DV:PL	0/1:25:14:255,0,255	1/1:15:15:255,45,0	0/1:17:7:184,0,252	0/1:25:9:192,0,255	1/1:17:17:255,51,0	.	1/1:20:20:255,60,0	0/1:20:11:255,0,192	1/1:20:20:255,60,0	1/1:17:17:255,51,0	1/1:22:22:255,66,0	1/1:20:20:255,60,0	0/1:11:4:104,0,193	1/1:18:18:255,54,0	0/1:21:14:255,0,211	1/1:16:16:255,48,0	1/1:14:14:255,42,0	1/1:20:20:255,60,0	0/1:23:13:242,0,255	1/1:25:25:255,75,0	0/1:20:10:255,0,255	0/1:35:16:255,0,255	0/1:10:6:180,0,149	1/1:27:27:255,81,0	0/1:38:14:255,0,255	G	A	13	11	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)	.	Gastric cancer, increased risk, association with(CM088536)	ATC-GTC|Ile138Val|c.412A>G|p.I138V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18687755&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20952689&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21326139&dopt=Abstract)	18687755|20952689|21326139|24094650|23791642|21892159|21536738|20062065|19494261|19029905|15504823|14625547|12872121|12433363|11418668|11023514|9843216|9495344|9005984|8692964|8266077|8128231|7964471|2317865|1634235	DNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_DNA_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS;DNA_RECOMBINATION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS	.	INTERLEUKIN_BINDING;ANTIGEN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_PRIMARY_IMMUNODEFICIENCY	.	BIOCARTA_IL7_PATHWAY	REACTOME_IL_7_SIGNALING;REACTOME_SIGNALING_BY_ILS;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	5	35876274	rs3194051	A	G	220.75	PASS	IL7R	interleukin 7 receptor	exonic	NM_002185	.	missense SNV	IL7R:NM_002185:exon8:c.A1066G:p.I356V	ENST00000343305.4,ENST00000303115.3	.	5p13.2	.	.	.	.	.	rs3194051	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000121222.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	Ulcerative colitis	0.0614618	0.0625	0.220847	0.2932	0.2445	0.0674	0.054364498928	0.0673076978365	0.226,T	0.024,B	0.044,B	1,P	0.019361,N	1.625,L	1.41,T	6.0166	0.408	0.577	.	3.23	AC=4;AN=8;BQB=0.740554;DP4=74,22,60,13;DP=220;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.792762;SF=1,4,6,20;SGB=-0.689466;VDB=0.773964	GT:DP:DV:PL	.	0/1:41:16:255,0,255	.	.	0/1:33:13:250,0,255	.	0/1:47:21:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	A	G	0	4	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)	21297633(4E-8)	Multiple sclerosis, association with(CM058270)	ATC-GTC|Ile356Val|c.1066A>G|p.I356V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15674389&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17660816&dopt=Abstract)	15674389|24728327|17660816|24094650|23791642|21892159|21536738|20062065|19494261|19029905|15504823|14625547|12872121|12433363|11418668|11023514|9843216|9495344|9005984|8692964|8266077|8128231|7964471|2317865|1634235	DNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_DNA_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS;DNA_RECOMBINATION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS	.	INTERLEUKIN_BINDING;ANTIGEN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_PRIMARY_IMMUNODEFICIENCY	.	BIOCARTA_IL7_PATHWAY	REACTOME_IL_7_SIGNALING;REACTOME_SIGNALING_BY_ILS;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	5	42719239	rs6180	A	C	218.25	PASS	GHR	growth hormone receptor	exonic	NM_000163,NM_001242399,NM_001242400,NM_001242401,NM_001242402,NM_001242403,NM_001242404,NM_001242405,NM_001242406,NM_001242460	.	missense SNV	GHR:NM_001242460:exon8:c.A1564C:p.I522L,GHR:NM_001242406:exon9:c.A1630C:p.I544L,GHR:NM_000163:exon10:c.A1630C:p.I544L,GHR:NM_001242399:exon10:c.A1651C:p.I551L,GHR:NM_001242402:exon10:c.A1630C:p.I544L,GHR:NM_001242403:exon10:c.A1630C:p.I544L,GHR:NM_001242404:exon10:c.A1630C:p.I544L,GHR:NM_001242405:exon10:c.A1630C:p.I544L,GHR:NM_001242400:exon11:c.A1630C:p.I544L,GHR:NM_001242401:exon11:c.A1630C:p.I544L	ENST00000357703.3,ENST00000537449.1,ENST00000230882.4	.	5p12	.	.	Score=727;Name=V$PAX4_04	.	.	rs6180	CLINSIG=other|Benign;CLNDBN=Familial_hypercholesterolemia|not_specified;CLNACC=RCV000009190.3|RCV000173652.1;CLNDSDB=MedGen:OMIM:SNOMED_CT:SNOMED_CT|MedGen;CLNDSDBID=C0020445:143890:397915002:398036000|CN169374	Height	0.568106	0.5694	0.444489	0.4363	0.4434	0.5955	0.591117528331	0.578124822115	0.003,D	0.897,P	0.933,P	0.999794,P	0.073576,N	3.415,M	1.3,T	5.4155	1.135	1.575	2.552335,19.80	3.43	AC=26;AN=40;BQB=0.318527;DP4=158,74,267,117;DP=786;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.876998;SF=1,2,3,4,5,6,8,9,10,11,13,15,16,17,18,19,20,21,22,24;SGB=-0.688148;VDB=0.607298	GT:DP:DV:PL	.	0/1:27:15:255,0,255	0/1:32:15:255,0,255	0/1:27:14:255,0,255	1/1:34:34:255,102,0	0/1:35:18:255,0,255	0/1:31:17:255,0,255	.	0/1:38:15:255,0,255	1/1:27:27:255,81,0	0/1:36:21:255,0,255	0/1:29:19:255,0,213	.	1/1:18:18:255,54,0	.	1/1:31:31:255,93,0	0/1:30:15:255,0,255	1/1:25:25:255,75,0	0/1:44:17:255,0,255	1/1:34:34:255,102,0	0/1:29:11:235,0,255	0/1:41:19:255,0,255	0/1:15:6:165,0,210	.	0/1:33:13:255,0,255	A	C	6	14	Laron dwarfism, 262500 (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3); Increased responsiveness to growth hormone (3); Growth hormone insensitivity, partial, 604271 (3)	.	Altered HDL cholesterol level in hypercholesterolaemia(CM032246)	ATC-CTC|Ile544Leu|c.1630A>C|p.I544L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12910492&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17547682&dopt=Abstract)	12910492|17547682|20220755|18611972|18445665|18397980|18029459|17925340|17711923|17671221|17426087|17405847|17148568|17090634|17003087|16804042|16572267|16291706|16291702|15690087|15536163|15208626|15001620|12910492|12679461|11836282|11836270|11468686|11158048|11134133|11013443|10976913|10946895|10764769|10720017|10404796|10084588|9851797|9814495|9661642|9661639|9661611|9626125|9467570|9360546|9360529|9259320|9140387|8901592|8626815|8488849|8450064|7565946|3372509|2825030|2813379|2800930|2779634|2776481|2369845|2233903|1999489|1719554|1372321|1284474	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;GROWTH;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_HES_HEYPATHWAY	BIOCARTA_AKT_PATHWAY;BIOCARTA_GH_PATHWAY;BIOCARTA_EIF4_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY;BIOCARTA_TFF_PATHWAY	REACTOME_GROWTH_HORMONE_RECEPTOR_SIGNALING;REACTOME_SIGNALING_BY_ERBB4;REACTOME_PROLACTIN_RECEPTOR_SIGNALING;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	5	73981270	rs820878	T	C	228	PASS	HEXB	hexosaminidase B (beta polypeptide)	exonic	NM_000521	.	missense SNV	HEXB:NM_000521:exon1:c.T185C:p.L62S	ENST00000511181.1,ENST00000261416.7	CpG: 65	5q13.3	.	.	.	.	.	rs820878	CLINSIG=Pathogenic\x2cBenign;CLNDBN=Sandhoff_disease\x2c_infantile_type\x2cnot_specified;CLNACC=RCV000004086.2,RCV000153357.2;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=C1849322\x2cCN169374	.	1	1	0.98143	0.9693	0.9708	0.9999	0.998468557427	0.997596057692	1.0,T	.	.	1,P	0.012864,N	.	-0.42,T	8.7571	0.476	0.963	.	3.99	AC=50;AN=50;DP4=0,0,2547,973;DP=5008;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.205792	GT:DP:DV:PL	1/1:97:97:255,255,0	1/1:118:118:255,255,0	1/1:156:156:255,255,0	1/1:118:118:255,255,0	1/1:127:127:255,255,0	1/1:244:244:255,255,0	1/1:145:145:255,255,0	1/1:181:181:255,255,0	1/1:119:119:255,255,0	1/1:90:90:255,255,0	1/1:133:133:255,255,0	1/1:100:100:255,255,0	1/1:102:102:255,255,0	1/1:179:179:255,255,0	1/1:130:130:255,255,0	1/1:88:88:255,255,0	1/1:128:128:255,255,0	1/1:120:120:255,255,0	1/1:119:119:255,255,0	1/1:130:130:255,255,0	1/1:138:138:255,255,0	1/1:286:286:255,255,0	1/1:41:41:255,123,0	1/1:216:216:255,255,0	1/1:215:215:255,255,0	T	C	25	0	Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)	.	Sandhoff disease(CM952225)	TCG-TTG|Ser62Leu|c.185C>T|p.S62L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7633435&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25333069&dopt=Abstract)	7633435|20981092|25333069|18758829|18180457|15459180|10982028|9888387|9694901|9401004|8950198|8663217|8357844|8106452|8076944|8045559|7633435|7557963|7177110|6951199|6323102|4812950|3156493|3014997|2977375|2973515|2971567|2964638|2948136|2921040|2579389|2525553|2522450|2170400|2147027|2139865|1975561|1720305|1531140|1487253|1386607|1054503|868875|808963|752513|747190|601683|571983|484551|62363|10724	.	.	PROTEIN_HOMODIMERIZATION_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS;IDENTICAL_PROTEIN_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_OTHER_GLYCAN_DEGRADATION;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM;KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES;KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GANGLIO_SERIES;KEGG_LYSOSOME	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_CS_DS_DEGRADATION;REACTOME_HYALURONAN_UPTAKE_AND_DEGRADATION;REACTOME_HYALURONAN_METABOLISM;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM;REACTOME_KERATAN_SULFATE_DEGRADATION;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	5	79950781	rs1650697	A	G	213.65	PASS	MSH3	mutS homolog 3	exonic	NM_002439	.	missense SNV	MSH3:NM_002439:exon1:c.A235G:p.I79V	ENST00000439211.2,ENST00000265081.6	CpG: 79	5q14.1	.	.	.	.	.	rs1650697	.	.	0.634551	0.6607	0.76857	.	0.9029	0.875	0.634551	0.641826685096	1.0,T	0.0,B	0.0,B	1,P	0.309797,N	-1.1,N	-2.04,D	3.0405	-1.742	-0.493	.	.	AC=29;AN=40;BQB=0.496044;DP4=12,223,64,558;DP=1037;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.944655;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,19,20,21,22;SGB=-0.693132;VDB=0.00511919	GT:DP:DV:PL	1/1:34:34:255,102,0	1/1:31:31:255,93,0	1/1:46:46:255,138,0	1/1:34:34:255,102,0	1/1:45:45:253,135,0	0/1:68:35:255,0,250	0/1:42:16:218,0,232	0/1:48:29:255,0,185	0/1:39:17:229,0,164	0/1:30:20:255,0,124	1/1:40:40:255,120,0	0/1:33:18:249,0,190	0/1:32:17:193,0,184	1/1:57:57:255,172,0	1/1:40:40:255,120,0	0/1:26:13:231,0,151	.	.	.	0/1:51:27:255,0,158	1/1:39:39:255,117,0	0/1:106:54:255,0,232	0/1:16:10:192,0,115	.	.	A	G	9	11	Endometrial carcinoma, somatic, 608089 (3)	.	Colon cancer, association with(CM003459)	GTA-ATA|Val79Ile|c.235G>A|p.V79I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10944853&dopt=Abstract)	10944853|10545954|9671718|9401011|9294177|9240418|8851770|8838312|8782829|7669036|2722860|2674679|2233729	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;DNA_REPLICATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;DNA_DEPENDENT_DNA_REPLICATION;BASE_EXCISION_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	ORGANELLE_PART;NUCLEAR_PART;NUCLEUS;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DAMAGED_DNA_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;IDENTICAL_PROTEIN_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;DNA_BINDING	KEGG_MISMATCH_REPAIR;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER	.	.	.	PS1,PS3,BA1
L	5	79966029	rs1805355	G	A	219.23	PASS	MSH3	mutS homolog 3	exonic	NM_002439	.	synonymous SNV	MSH3:NM_002439:exon4:c.G693A:p.P231P	ENST00000265081.6	.	5q14.1	.	.	.	.	.	rs1805355	.	.	0.317276	0.3383	0.182907	0.1016	0.1263	0.3260	0.343797825421	0.322115675481	.	.	.	.	.	.	.	.	-1.022	-1.020	0.973571,10.51	.	AC=16;AN=26;BQB=0.994047;DP4=85,66,164,83;DP=550;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.11585;SF=0,1,2,3,4,9,10,11,14,15,19,20,21;SGB=-0.693127;VDB=0.392892	GT:DP:DV:PL	1/1:33:33:255,99,0	1/1:21:21:255,63,0	0/1:33:14:255,0,255	0/1:40:21:255,0,255	0/1:37:15:255,0,255	.	.	.	.	0/1:25:18:255,0,215	0/1:28:17:255,0,255	0/1:28:12:255,0,255	.	.	0/1:18:6:202,0,255	0/1:31:16:255,0,255	.	.	.	0/1:31:16:255,0,255	1/1:39:39:255,117,0	0/1:34:19:255,0,255	.	.	.	G	A	3	10	Endometrial carcinoma, somatic, 608089 (3)	.	Colorectal cancer(CS108876)	IVS4 ds G-A -100|c.693G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21128252&dopt=Abstract)	21128252|10545954|9671718|9401011|9294177|9240418|8851770|8838312|8782829|7669036|2722860|2674679|2233729	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;DNA_REPLICATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;DNA_DEPENDENT_DNA_REPLICATION;BASE_EXCISION_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	ORGANELLE_PART;NUCLEAR_PART;NUCLEUS;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DAMAGED_DNA_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;IDENTICAL_PROTEIN_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;DNA_BINDING	KEGG_MISMATCH_REPAIR;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER	.	.	.	PS1,PS3,BA1
L	5	80149981	rs184967	A	G	200.91	PASS	MSH3	mutS homolog 3	exonic	NM_002439	.	missense SNV	MSH3:NM_002439:exon21:c.A2846G:p.Q949R	ENST00000265081.6	.	5q14.1	.	.	.	.	.	rs184967	.	.	1	1	0.902157	0.8552	0.8731	0.9993	0.998468557427	0.993990420673	1.0,T	0.001,B	0.0,B	0.999998,P	0.000305,N	-0.32,N	-1.93,D	12.4564	-0.255	0.403	.	.	AC=44;AN=44;DP4=0,0,183,19;DP=279;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,6,7,8,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.101769	GT:DP:DV:PL	1/1:9:9:216,27,0	.	1/1:6:6:201,18,0	1/1:11:11:255,33,0	1/1:11:11:255,33,0	1/1:8:8:208,24,0	1/1:11:11:222,33,0	1/1:9:9:202,27,0	1/1:11:11:218,33,0	.	.	1/1:7:7:201,21,0	1/1:9:9:247,27,0	1/1:10:10:215,30,0	1/1:8:8:201,24,0	1/1:7:7:220,21,0	1/1:8:8:243,24,0	1/1:10:10:255,30,0	1/1:10:10:246,30,0	1/1:5:5:172,15,0	1/1:10:10:225,30,0	1/1:13:13:255,39,0	1/1:8:8:248,24,0	1/1:11:11:255,33,0	1/1:10:10:255,30,0	A	G	22	0	Endometrial carcinoma, somatic, 608089 (3)	.	Proximal colon cancer, increased risk, association with(CM076322)	CGG-CAG|Arg949Gln|c.2846G>A|p.R949Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17205513&dopt=Abstract)	17205513|10545954|9671718|9401011|9294177|9240418|8851770|8838312|8782829|7669036|2722860|2674679|2233729	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;DNA_REPLICATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;DNA_DEPENDENT_DNA_REPLICATION;BASE_EXCISION_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	ORGANELLE_PART;NUCLEAR_PART;NUCLEUS;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DAMAGED_DNA_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;IDENTICAL_PROTEIN_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;DNA_BINDING	KEGG_MISMATCH_REPAIR;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER	.	.	.	PS1,PS3,BA1
L	5	80168937	rs26279	G	A	212.55	PASS	MSH3	mutS homolog 3	exonic	NM_002439	.	missense SNV	MSH3:NM_002439:exon23:c.G3133A:p.A1045T	ENST00000265081.6	.	5q14.1	.	.	.	.	.	rs26279	.	.	0.730897	0.753	0.720248	0.6947	0.7305	0.7438	0.738897588055	0.721153790865	0.551,T	0.035,B	0.075,B	1,P	0.570285,N	-0.245,N	-2.14,D	2.3626	-0.192	1.014	.	.	AC=31;AN=44;BQB=0.793923;DP4=156,29,346,86;DP=858;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.682853;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,19,20,21,22,24;SGB=-0.683931;VDB=0.299228	GT:DP:DV:PL	0/1:27:13:255,0,255	1/1:30:30:255,90,0	1/1:23:23:255,69,0	1/1:36:36:255,108,0	1/1:36:36:255,108,0	0/1:34:14:255,0,255	0/1:27:14:255,0,255	0/1:28:16:255,0,230	.	0/1:27:11:228,0,255	0/1:23:9:243,0,255	1/1:36:36:255,108,0	1/1:21:21:255,63,0	0/1:21:5:138,0,255	1/1:26:26:255,78,0	0/1:23:12:255,0,194	0/1:21:11:255,0,255	1/1:31:31:255,93,0	.	0/1:28:15:255,0,255	1/1:25:25:255,75,0	0/1:38:20:255,0,255	0/1:14:7:150,0,191	.	0/1:42:21:255,0,255	G	A	9	13	Endometrial carcinoma, somatic, 608089 (3)	.	Colorectal cancer, increased risk, association with(CM076321)	ACA-GCA|Thr1045Ala|c.3133A>G|p.T1045A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17205513&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20708344&dopt=Abstract)	17205513|20708344|10545954|9671718|9401011|9294177|9240418|8851770|8838312|8782829|7669036|2722860|2674679|2233729	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;DNA_REPLICATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;DNA_DEPENDENT_DNA_REPLICATION;BASE_EXCISION_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	ORGANELLE_PART;NUCLEAR_PART;NUCLEUS;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DAMAGED_DNA_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_HYDROLYZING_N_GLYCOSYL_COMPOUNDS;IDENTICAL_PROTEIN_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;DNA_BINDING	KEGG_MISMATCH_REPAIR;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER	.	.	.	PS1,PS3,BA1
L	5	95728898	rs6235	C	G	223.09	PASS	PCSK1	proprotein convertase subtilisin/kexin type 1	exonic	NM_000439,NM_001177875	.	missense SNV	PCSK1:NM_000439:exon14:c.G2069C:p.S690T,PCSK1:NM_001177875:exon14:c.G1928C:p.S643T	ENST00000502645.2,ENST00000508626.1,ENST00000311106.3,ENST00000513085.1	.	5q15	.	.	.	.	.	rs6235	.	Glycemic traits (pregnancy),Proinsulin levels	0.406977	0.3591	0.24381	0.2377	0.2653	0.3096	0.373659903522	0.389423189904	0.186,T	0.004,B	0.003,B	0.999696,P	0.001078,N	0.805,L	-0.05,T	9.5219	2.713	0.892	1.361603,12.59	3.95	AC=13;AN=22;BQB=0.99889;DP4=153,65,213,89;DP=721;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.697676;SF=0,1,6,9,10,11,13,19,20,21,24;SGB=-0.692067;VDB=0.462817	GT:DP:DV:PL	0/1:44:20:255,0,255	0/1:39:19:255,0,255	.	.	.	.	0/1:46:24:255,0,255	.	.	0/1:36:19:255,0,255	0/1:38:19:255,0,255	0/1:57:28:255,0,255	.	1/1:35:35:255,105,0	.	.	.	.	.	0/1:51:24:255,0,255	1/1:55:55:255,166,0	0/1:64:28:255,0,255	.	.	0/1:55:31:255,0,255	C	G	2	9	Obesity with impaired prohormone processing, 600955 (3); {Obesity, susceptibility to, BMIQ12}, 612362 (3)	23903356(5E-15);21873549(1E-26)	Obesity-related traits, association with(CM1311914)	AGT-ACT|Ser690Thr|c.2069G>C|p.S690T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24140494&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24932808&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25625282&dopt=Abstract)	24140494|24932808|25625282|18604207|17595246|14617756|12721373|12145326|9207799|9019408|8666140|7797529|7663508|7477119|1765368|1605851|1354647	CELL_CELL_SIGNALING;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	.	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_DIABETES_PATHWAYS;REACTOME_PEPTIDE_HORMONE_BIOSYNTHESIS;REACTOME_INSULIN_SYNTHESIS_AND_PROCESSING;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_SYNTHESIS_SECRETION_AND_DEACYLATION_OF_GHRELIN;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GIP;REACTOME_INCRETIN_SYNTHESIS_SECRETION_AND_INACTIVATION;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GLP1	PS1,PS3,BA1
L	5	95728974	rs6234	G	C	223	PASS	PCSK1	proprotein convertase subtilisin/kexin type 1	exonic	NM_000439,NM_001177875	.	missense SNV	PCSK1:NM_000439:exon14:c.C1993G:p.Q665E,PCSK1:NM_001177875:exon14:c.C1852G:p.Q618E	ENST00000502645.2,ENST00000508626.1,ENST00000311106.3,ENST00000513085.1	.	5q15	.	.	.	.	.	rs6234	.	.	0.406977	0.3591	0.259185	0.2496	0.2688	0.3085	0.371363009188	0.389423189904	1.0,T	0.0,B	0.0,B	1,P	0.463051,N	-0.695,N	-0.11,T	11.1807	-0.210	0.132	.	.	AC=13;AN=22;BQB=0.711573;DP4=119,83,147,101;DP=633;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.590165;SF=0,1,6,9,10,11,13,19,20,21,24;SGB=-0.686358;VDB=0.0153741	GT:DP:DV:PL	0/1:35:14:255,0,255	0/1:35:17:255,0,255	.	.	.	.	0/1:47:24:255,0,255	.	.	0/1:38:21:255,0,255	0/1:38:15:255,0,255	0/1:48:25:255,0,255	.	1/1:27:27:255,81,0	.	.	.	.	.	0/1:44:14:255,0,255	1/1:47:47:255,141,0	0/1:49:24:255,0,255	.	.	0/1:42:20:255,0,255	G	C	2	9	Obesity with impaired prohormone processing, 600955 (3); {Obesity, susceptibility to, BMIQ12}, 612362 (3)	.	Reduced specific activity(CM132638)	CAG-GAG|Gln665Glu|c.1993C>G|p.Q665E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23383060&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24932808&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25625282&dopt=Abstract)	23383060|24932808|25625282|18604207|17595246|14617756|12721373|12145326|9207799|9019408|8666140|7797529|7663508|7477119|1765368|1605851|1354647	CELL_CELL_SIGNALING;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	.	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_DIABETES_PATHWAYS;REACTOME_PEPTIDE_HORMONE_BIOSYNTHESIS;REACTOME_INSULIN_SYNTHESIS_AND_PROCESSING;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_SYNTHESIS_SECRETION_AND_DEACYLATION_OF_GHRELIN;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GIP;REACTOME_INCRETIN_SYNTHESIS_SECRETION_AND_INACTIVATION;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GLP1	PS1,PS3,BA1
L	5	110439509	rs11241095	A	G	167.08	PASS	WDR36	WD repeat domain 36	exonic	NM_139281	.	missense SNV	WDR36:NM_139281:exon7:c.A790G:p.I264V	ENST00000513710.2,ENST00000506538.2,ENST00000505303.1	.	5q22.1	.	.	Score=870;Name=V$SOX9_B1	.	.	rs11241095	.	.	0.259136	0.2728	0.257388	0.2385	0.3185	0.2465	0.265696784074	0.265624930288	.	0.0,B	0.0,B	0.243341,P	0.000482,N	-0.48,N	1.44,T	10.6201	-0.184	0.234	.	.	AC=12;AN=24;BQB=0.765017;DP4=100,26,68,26;DP=319;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999702;SF=0,1,4,5,6,9,12,14,15,16,20,23;SGB=-0.680642;VDB=0.253902	GT:DP:DV:PL	0/1:27:12:255,0,255	0/1:17:6:131,0,255	.	.	0/1:21:12:255,0,230	0/1:18:8:214,0,255	0/1:12:3:112,0,223	.	.	0/1:19:10:255,0,247	.	.	0/1:10:3:89,0,193	.	0/1:11:6:219,0,153	0/1:25:9:251,0,255	0/1:26:12:255,0,255	.	.	.	0/1:18:6:157,0,255	.	.	0/1:16:7:212,0,255	.	A	G	0	12	Glaucoma 1, open angle, G, 609887 (3)	.	Glaucoma, primary open angle, association with(CM075046)	ATT-GTT|Ile264Val|c.790A>G|p.I264V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17960130&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19150991&dopt=Abstract)	17960130|19150991|19150991|18469340|18172102|17353431|15677485|15590835|15177553	.	.	.	.	.	.	.	PS1,PS3,BA1
L	5	112162854	rs2229992	T	C	181.52	PASS	APC	adenomatous polyposis coli	exonic	NM_000038,NM_001127510,NM_001127511	.	synonymous SNV	APC:NM_001127511:exon10:c.T1404C:p.Y468Y,APC:NM_000038:exon12:c.T1458C:p.Y486Y,APC:NM_001127510:exon13:c.T1458C:p.Y486Y	ENST00000457016.1,ENST00000257430.4,ENST00000508376.2	.	5q22.2	.	.	.	.	.	rs2229992	CLINSIG=Benign|other|Benign;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000035064.7|RCV000074147.1|RCV000131423.2;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768|C0027672:699346009	.	0.647841	0.6647	0.509984	0.4622	0.5780	0.6791	0.671516099541	0.655048403846	.	.	.	.	.	.	.	.	0.135	1.301	.	.	AC=30;AN=44;BQB=0.959011;DP4=84,39,177,73;DP=537;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.921243;SF=0,1,2,3,4,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.69168;VDB=0.00978298	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:29:29:255,87,0	0/1:15:8:255,0,203	1/1:19:19:255,57,0	0/1:25:11:255,0,255	.	0/1:13:3:58,0,255	0/1:15:9:248,0,147	0/1:11:2:59,0,218	0/1:18:9:255,0,255	.	0/1:22:8:223,0,255	0/1:11:6:175,0,145	1/1:16:16:255,48,0	0/1:18:11:255,0,203	0/1:17:8:222,0,239	1/1:20:20:255,60,0	1/1:7:7:255,21,0	0/1:14:4:113,0,221	1/1:23:23:255,69,0	1/1:19:19:255,57,0	0/1:22:10:235,0,255	0/1:7:6:171,0,16	0/1:13:3:116,0,255	.	T	C	8	14	Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3)	.	Adenomatous polyposis coli(CM990152)	TAT-TAG|Tyr486Term|c.1458T>G|p.Y486*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7959691&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	7959691|25525159|25676610|24264992|20348907|20197553|18982352|18854359|18451862|18337602|18202290|17989230|17486639|17377531|17360473|17135589|16938888|16798748|16411234|16188939|16185824|15771908|15767571|15689459|15676281|15572129|15459959|15355978|15287021|15190067|14662741|14625550|14624392|14534590|14523376|14502292|12970569|12621137|12610628|12598901|12509771|12447373|12426568|12173321|12136240|12093899|12045208|12034871|11972058|11867715|11743581|11553046|11507063|11466687|11409872|11354631|11283620|11283619|11257105|11035805|11001924|10984057|10982189|10947987|10924409|10782927|10737795|10716720|10713886|10666372|10598803|10562580|10494086|10489374|10470088|10439961|10213492|10083733|10077730|10051640|10021369|9973276|9950370|9950360|9927046|9916927|9890479|9869620|9869603|9869602|9843214|9831355|9824584|9823329|9751605|9731533|9731522|9727977|9724771|9603437|9585611|9585599|9521420|9506763|9506519|9487968|9375853|9371501|9353177|9288102|9196441|9176082|9096389|9096341|9090536|8990002|8968744|8945508|8945503|8940264|8940262|8931709|8929955|8861899|8829653|8764128|8655134|8653697|8638126|8638125|8594558|8544194|8521479|8415640|8391580|8388766|8385345|8383094|8281160|8259519|8259518|8259511|8252631|8252630|8247073|8242739|8162051|8111410|8102685|8094372|8090754|8071957|8064829|8019566|7959691|7906810|7874118|7797123|7795585|7753829|7749328|7661930|7624136|7557972|7490101|7485167|2886919|2188735|2164769|1846539|1678319|1651563|1651562|1651174|1544113|1528264|1355210|1351034|1350108|1338904|1338764|1325652|1324223|1319838|1317264|1316610	NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_MOLECULAR_FUNCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_CYCLE;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_ARREST_GO_0007050;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE;MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;CHROMOSOMEPERICENTRIC_REGION;MICROTUBULE_ORGANIZING_CENTER;KINETOCHORE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CHROMOSOMAL_PART;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;CHROMOSOME	KINASE_BINDING;MICROTUBULE_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;TUBULIN_BINDING;PROTEIN_KINASE_REGULATOR_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	KEGG_WNT_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BETACATENIN_DEG_PATHWAY;PID_MET_PATHWAY;PID_PS1PATHWAY;PID_CDC42_PATHWAY;PID_CDC42_REG_PATHWAY;PID_WNT_CANONICAL_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_BETACATENIN_NUC_PATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_GSK3_PATHWAY;BIOCARTA_PITX2_PATHWAY;BIOCARTA_PS1_PATHWAY;BIOCARTA_TGFB_PATHWAY;BIOCARTA_WNT_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_SIGNALING_BY_WNT;REACTOME_CTNNB1_PHOSPHORYLATION_CASCADE;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	5	112175770	rs41115	G	A	221.04	PASS	APC	adenomatous polyposis coli	exonic	NM_000038,NM_001127510,NM_001127511	.	synonymous SNV	APC:NM_001127511:exon14:c.G4425A:p.T1475T,APC:NM_000038:exon16:c.G4479A:p.T1493T,APC:NM_001127510:exon17:c.G4479A:p.T1493T	ENST00000457016.1,ENST00000257430.4,ENST00000520401.1,ENST00000508376.2	.	5q22.2	.	.	.	.	.	rs41115	CLINSIG=Benign|other|Benign;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000035071.7|RCV000074234.1|RCV000162372.1;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768|C0027672:699346009	.	0.800664	0.8165	0.665535	0.5862	0.6486	0.8227	0.79938698928	0.801682413462	.	.	.	.	.	.	.	.	0.212	0.093	.	2.55	AC=43;AN=50;BQB=0.925321;DP4=69,31,326,143;DP=755;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.497317;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693054;VDB=0.653642	GT:DP:DV:PL	1/1:28:28:255,84,0	1/1:22:22:255,66,0	1/1:20:20:255,60,0	1/1:18:18:255,54,0	0/1:22:11:255,0,246	1/1:26:26:255,78,0	0/1:21:11:252,0,255	1/1:33:33:255,99,0	1/1:25:25:255,75,0	1/1:12:12:255,36,0	0/1:24:9:250,0,255	1/1:24:24:255,72,0	0/1:24:12:192,0,255	1/1:23:23:255,69,0	1/1:11:11:255,33,0	1/1:20:20:255,60,0	1/1:24:24:255,72,0	1/1:14:14:255,42,0	0/1:25:10:194,0,255	1/1:20:20:255,60,0	1/1:19:19:255,57,0	0/1:47:24:255,0,255	1/1:16:16:255,48,0	1/1:24:23:255,43,0	0/1:27:14:255,0,249	G	A	18	7	Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3)	.	Adenomatous polyposis coli(CD108356)	ATTTT^1492GCCACggAAAGTACTCC|c.4479_4480delGG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21059714&dopt=Abstract)	21059714|25676610|24264992|20348907|20197553|18982352|18854359|18451862|18337602|18202290|17989230|17486639|17377531|17360473|17135589|16938888|16798748|16411234|16188939|16185824|15771908|15767571|15689459|15676281|15572129|15459959|15355978|15287021|15190067|14662741|14625550|14624392|14534590|14523376|14502292|12970569|12621137|12610628|12598901|12509771|12447373|12426568|12173321|12136240|12093899|12045208|12034871|11972058|11867715|11743581|11553046|11507063|11466687|11409872|11354631|11283620|11283619|11257105|11035805|11001924|10984057|10982189|10947987|10924409|10782927|10737795|10716720|10713886|10666372|10598803|10562580|10494086|10489374|10470088|10439961|10213492|10083733|10077730|10051640|10021369|9973276|9950370|9950360|9927046|9916927|9890479|9869620|9869603|9869602|9843214|9831355|9824584|9823329|9751605|9731533|9731522|9727977|9724771|9603437|9585611|9585599|9521420|9506763|9506519|9487968|9375853|9371501|9353177|9288102|9196441|9176082|9096389|9096341|9090536|8990002|8968744|8945508|8945503|8940264|8940262|8931709|8929955|8861899|8829653|8764128|8655134|8653697|8638126|8638125|8594558|8544194|8521479|8415640|8391580|8388766|8385345|8383094|8281160|8259519|8259518|8259511|8252631|8252630|8247073|8242739|8162051|8111410|8102685|8094372|8090754|8071957|8064829|8019566|7959691|7906810|7874118|7797123|7795585|7753829|7749328|7661930|7624136|7557972|7490101|7485167|2886919|2188735|2164769|1846539|1678319|1651563|1651562|1651174|1544113|1528264|1355210|1351034|1350108|1338904|1338764|1325652|1324223|1319838|1317264|1316610	NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_MOLECULAR_FUNCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_CYCLE;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_ARREST_GO_0007050;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE;MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;CHROMOSOMEPERICENTRIC_REGION;MICROTUBULE_ORGANIZING_CENTER;KINETOCHORE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CHROMOSOMAL_PART;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;CHROMOSOME	KINASE_BINDING;MICROTUBULE_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;TUBULIN_BINDING;PROTEIN_KINASE_REGULATOR_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	KEGG_WNT_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BETACATENIN_DEG_PATHWAY;PID_MET_PATHWAY;PID_PS1PATHWAY;PID_CDC42_PATHWAY;PID_CDC42_REG_PATHWAY;PID_WNT_CANONICAL_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_BETACATENIN_NUC_PATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_GSK3_PATHWAY;BIOCARTA_PITX2_PATHWAY;BIOCARTA_PS1_PATHWAY;BIOCARTA_TGFB_PATHWAY;BIOCARTA_WNT_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_SIGNALING_BY_WNT;REACTOME_CTNNB1_PHOSPHORYLATION_CASCADE;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	5	112176756	rs459552	T	A	227	PASS	APC	adenomatous polyposis coli	exonic	NM_000038,NM_001127510,NM_001127511	.	missense SNV	APC:NM_001127511:exon14:c.T5411A:p.V1804D,APC:NM_000038:exon16:c.T5465A:p.V1822D,APC:NM_001127510:exon17:c.T5465A:p.V1822D	ENST00000457016.1,ENST00000257430.4,ENST00000520401.1,ENST00000508376.2	.	5q22.2	.	.	.	.	.	rs459552	CLINSIG=Benign|Benign|Benign|other|Benign;CLNDBN=Familial_adenomatous_polyposis_1|not_provided|not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000020089.2|RCV000034393.1|RCV000035078.8|RCV000074239.1|RCV000132160.2;CLNDSDB=MedGen:OMIM|MedGen|MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C2713442:175100|CN221809|CN169374|CN029768|C0027672:699346009	.	0.89701	0.9008	0.865415	0.8263	0.7981	0.9018	0.909648039816	0.895432620192	0.672,T	0.0,B	0.0,B	0.980951,P	0.000244,N	-0.895,N	-2.3,D	9.3995	0.139	3.653	1.485525,13.24	3.59	AC=46;AN=50;BQB=0.993869;DP4=44,25,562,203;DP=1087;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.879392;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.423873	GT:DP:DV:PL	1/1:47:47:255,141,0	1/1:39:39:255,117,0	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:39:39:255,117,0	1/1:29:29:255,87,0	1/1:17:17:255,51,0	1/1:38:38:255,114,0	1/1:40:40:255,120,0	1/1:28:28:255,84,0	0/1:36:17:255,0,255	1/1:42:42:255,126,0	0/1:26:18:255,0,196	1/1:19:19:255,57,0	1/1:28:28:255,84,0	1/1:43:43:255,129,0	1/1:34:34:255,102,0	1/1:30:30:255,90,0	0/1:47:23:255,0,255	1/1:40:40:255,120,0	1/1:44:44:255,132,0	1/1:36:36:255,108,0	1/1:18:18:255,54,0	1/1:27:27:255,81,0	0/1:34:16:255,0,255	T	A	21	4	Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic, 613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer, somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3)	.	Adenomatous polyposis coli, association with(CM990164)	GAC-GTC|Asp1822Val|c.5465A>T|p.D1822V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9950360&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18343606&dopt=Abstract)	9950360|24728327|18343606|25676610|24264992|20348907|20197553|18982352|18854359|18451862|18337602|18202290|17989230|17486639|17377531|17360473|17135589|16938888|16798748|16411234|16188939|16185824|15771908|15767571|15689459|15676281|15572129|15459959|15355978|15287021|15190067|14662741|14625550|14624392|14534590|14523376|14502292|12970569|12621137|12610628|12598901|12509771|12447373|12426568|12173321|12136240|12093899|12045208|12034871|11972058|11867715|11743581|11553046|11507063|11466687|11409872|11354631|11283620|11283619|11257105|11035805|11001924|10984057|10982189|10947987|10924409|10782927|10737795|10716720|10713886|10666372|10598803|10562580|10494086|10489374|10470088|10439961|10213492|10083733|10077730|10051640|10021369|9973276|9950370|9950360|9927046|9916927|9890479|9869620|9869603|9869602|9843214|9831355|9824584|9823329|9751605|9731533|9731522|9727977|9724771|9603437|9585611|9585599|9521420|9506763|9506519|9487968|9375853|9371501|9353177|9288102|9196441|9176082|9096389|9096341|9090536|8990002|8968744|8945508|8945503|8940264|8940262|8931709|8929955|8861899|8829653|8764128|8655134|8653697|8638126|8638125|8594558|8544194|8521479|8415640|8391580|8388766|8385345|8383094|8281160|8259519|8259518|8259511|8252631|8252630|8247073|8242739|8162051|8111410|8102685|8094372|8090754|8071957|8064829|8019566|7959691|7906810|7874118|7797123|7795585|7753829|7749328|7661930|7624136|7557972|7490101|7485167|2886919|2188735|2164769|1846539|1678319|1651563|1651562|1651174|1544113|1528264|1355210|1351034|1350108|1338904|1338764|1325652|1324223|1319838|1317264|1316610	NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_MOLECULAR_FUNCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_CYCLE;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_ARREST_GO_0007050;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE;MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;CHROMOSOMEPERICENTRIC_REGION;MICROTUBULE_ORGANIZING_CENTER;KINETOCHORE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CHROMOSOMAL_PART;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;CHROMOSOME	KINASE_BINDING;MICROTUBULE_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;TUBULIN_BINDING;PROTEIN_KINASE_REGULATOR_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	KEGG_WNT_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BETACATENIN_DEG_PATHWAY;PID_MET_PATHWAY;PID_PS1PATHWAY;PID_CDC42_PATHWAY;PID_CDC42_REG_PATHWAY;PID_WNT_CANONICAL_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_BETACATENIN_NUC_PATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_GSK3_PATHWAY;BIOCARTA_PITX2_PATHWAY;BIOCARTA_PS1_PATHWAY;BIOCARTA_TGFB_PATHWAY;BIOCARTA_WNT_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_SIGNALING_BY_WNT;REACTOME_CTNNB1_PHOSPHORYLATION_CASCADE;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	5	118811533	rs25640	G	A	199.19	PASS	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	exonic	NM_000414,NM_001199291,NM_001199292,NM_001292027	.	missense SNV	HSD17B4:NM_001199292:exon5:c.G263A:p.R88H,HSD17B4:NM_000414:exon6:c.G317A:p.R106H,HSD17B4:NM_001199291:exon7:c.G392A:p.R131H,HSD17B4:NM_001292027:exon7:c.G245A:p.R82H	ENST00000515320.1,ENST00000256216.6,ENST00000510025.1,ENST00000414835.2,ENST00000504811.1	.	5q23.1	.	.	Score=887;Name=V$HSF1_01	.	.	rs25640	CLINSIG=Benign\x2cPathogenic;CLNDBN=not_specified\x2cBifunctional_peroxisomal_enzyme_deficiency;CLNACC=RCV000179310.1,RCV000008096.2;CLNDSDB=MedGen\x2cMedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=CN169374\x2cC0342870:261515:300:238068007	.	0.524917	0.5069	0.36262	0.3638	0.4400	0.5166	0.51454836294	0.531250016827	0.008,D	0.687,P	0.996,D	3.75267e-09,P	0.000007,D	0.995,L	-2.29,D	19.3577	2.676	7.637	7.301034,34	5.67	AC=31;AN=42;BQB=0.760829;DP4=64,27,188,83;DP=512;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.467995;SF=0,1,2,3,4,6,8,9,10,11,12,13,14,16,17,18,19,20,21,22,24;SGB=-0.676189;VDB=0.518745	GT:DP:DV:PL	0/1:21:11:255,0,246	0/1:22:12:255,0,255	1/1:13:13:255,39,0	1/1:11:11:255,33,0	1/1:23:23:255,69,0	.	0/1:13:7:224,0,174	.	1/1:24:24:255,72,0	0/1:19:9:208,0,255	1/1:15:15:255,45,0	0/1:26:18:255,0,245	0/1:14:8:231,0,145	1/1:13:13:255,39,0	0/1:11:4:158,0,236	.	0/1:23:5:120,0,255	0/1:7:4:154,0,107	1/1:23:23:255,69,0	1/1:10:10:255,30,0	0/1:21:11:255,0,255	1/1:27:27:255,81,0	0/1:7:4:154,0,132	.	1/1:19:19:255,57,0	G	A	10	11	D-bifunctional protein deficiency, 261515 (3); Perrault syndrome 1, 233400 (3)	.	D-bifunctional protein deficiency(CM014711)	CGT-CCT|Arg106Pro|c.317G>C|p.R106P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11743515&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	11743515|25525159|24553428|23181892|20673864|16385454|15216544|11992265|11743515|10748062|10400999|10199776|9915948|9880674|9482850|9345094|9197465|9133619|9089413|8938456|8902629|8621399|8279468|7487879|4061497|2921319|2882519|2868085|180535	.	CYTOPLASMIC_PART;CYTOPLASM;MICROBODY;PEROXISOME	LIPID_BINDING;STEROID_DEHYDROGENASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_GO_0016616;STEROL_BINDING;STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORSNAD_OR_NADP_AS_ACCEPTOR;OXIDOREDUCTASE_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;STEROID_BINDING;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;LIPID_TRANSPORTER_ACTIVITY	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PEROXISOME	.	BIOCARTA_PPARA_PATHWAY	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_ALPHA_LINOLENIC_ACID_ALA_METABOLISM;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	5	127685135	rs154001	C	T	217.52	PASS	FBN2	fibrillin 2	exonic	NM_001999	.	missense SNV	FBN2:NM_001999:exon23:c.G2893A:p.V965I	ENST00000508989.1,ENST00000508053.1,ENST00000262464.4	.	5q23.3	.	.	Score=830;Name=V$ATF_01	.	.	rs154001	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000117020.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.915282	0.9167	0.73103	0.6622	0.7234	0.9366	0.920367402757	0.907451771635	0.331,T	0.073,B	0.118,B	0.0436354,P	0.000117,D	-0.39,N	-3.01,D	13.2288	1.365	3.887	3.008843,22.3	3.32	AC=46;AN=50;BQB=0.993592;DP4=25,16,309,137;DP=690;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.869358;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.240286	GT:DP:DV:PL	0/1:20:10:255,0,255	1/1:10:10:255,30,0	1/1:17:17:255,51,0	1/1:16:16:255,48,0	1/1:23:23:255,69,0	1/1:28:28:255,84,0	0/1:23:6:163,0,255	1/1:18:18:255,54,0	1/1:20:20:255,60,0	1/1:13:13:255,39,0	1/1:18:18:255,54,0	1/1:27:27:255,81,0	0/1:14:8:194,0,150	1/1:15:15:255,45,0	1/1:19:19:255,57,0	0/1:14:7:171,0,186	1/1:25:25:255,75,0	1/1:14:14:255,42,0	1/1:18:18:255,54,0	1/1:23:22:255,32,0	1/1:26:26:255,78,0	1/1:23:23:255,69,0	1/1:16:16:255,48,0	1/1:20:20:255,60,0	1/1:27:27:255,81,0	C	T	21	4	Contractural arachnodactyly, congenital, 121050 (3); Macular degeneration, early-onset, 616118 (3)	.	Macular degeneration, age related, association with(CM1413000)	ATT-GTT|Ile965Val|c.2893A>G|p.I965V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24899048&dopt=Abstract)	24899048|24899048|20799338|12524050|12399449|10797416|10359653|9737771|9199560|9106527|8900230|8307578|8120105|7744963|7633409|7493032|1852206	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	.	.	.	PS1,PS3,BA1
L	5	138856982	rs7380824	C	T	210.42	PASS	TMEM173	transmembrane protein 173	exonic	NM_198282	.	missense SNV	TMEM173:NM_198282:exon7:c.G878A:p.R293Q	ENST00000330794.4	.	5q31.2	.	.	.	.	.	rs7380824	.	.	0.41196	0.4048	0.27496	0.1835	0.2049	0.4205	0.37519136294	0.396634591346	0.0,D	0.999,D	1.0,D	4.52978e-06,P	0.000011,D	2.925,M	1.73,T	19.0483	2.617	3.438	6.135070,28.4	5.53	AC=23;AN=38;BQB=0.938346;DP4=328,77,459,98;DP=1317;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0856516;SF=0,1,3,4,5,9,10,11,12,13,14,15,17,18,19,20,21,22,24;SGB=-0.688148;VDB=0.187135	GT:DP:DV:PL	0/1:43:15:255,0,255	0/1:46:23:255,0,255	.	0/1:46:22:255,0,255	1/1:51:51:255,154,0	0/1:68:32:255,0,255	.	.	.	0/1:31:11:205,0,255	0/1:70:32:255,0,255	0/1:44:23:255,0,255	0/1:42:11:193,0,255	0/1:77:33:255,0,255	0/1:66:29:255,0,255	0/1:43:24:255,0,255	.	1/1:37:37:255,111,0	1/1:56:56:255,169,0	0/1:48:26:255,0,255	0/1:44:26:255,0,237	1/1:66:66:255,199,0	0/1:23:7:125,0,255	.	0/1:61:33:255,0,255	C	T	4	15	STING-associated vasculopathy, infantile-onset, 615934 (3)	.	Defective IFNbeta stimulation(CM114287)	CGG-CAG|Arg293Gln|c.878G>A|p.R293Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21248775&dopt=Abstract)	21248775|26229117|26229115|25642965|25636800|25401470|25320273|25029335|24560620|24185615|24077100|23258413|23258412|22000020|21947006|19776740|19433799|19416887|19285439|18724357|18559423	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY	.	.	.	PS1,PS3,BA1
L	5	138861078	rs11554776	C	T	223.26	PASS	TMEM173	transmembrane protein 173	exonic	NM_001301738,NM_198282	.	missense SNV	TMEM173:NM_001301738:exon2:c.G212A:p.R71H,TMEM173:NM_198282:exon3:c.G212A:p.R71H	ENST00000330794.4,ENST00000511850.1	.	5q31.2	.	.	.	.	.	rs11554776	.	.	0.405316	0.4008	0.203075	0.1048	0.1834	0.4172	0.372128814701	0.390625302885	0.232,T	0.002,B	0.008,B	1,P	0.121905,N	0.755,N	0.99,T	3.65	0.053	-0.120	1.455870,13.08	.	AC=23;AN=38;BQB=0.986089;DP4=347,182,518,292;DP=1685;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.747302;SF=0,1,3,4,5,9,10,11,12,13,14,15,17,18,19,20,21,22,24;SGB=-0.693144;VDB=0.747119	GT:DP:DV:PL	0/1:65:39:255,0,255	0/1:64:22:255,0,255	.	0/1:69:33:255,0,255	1/1:71:71:255,214,0	0/1:110:52:255,0,255	.	.	.	0/1:48:23:255,0,255	0/1:76:37:255,0,255	0/1:46:19:255,0,255	0/1:79:37:255,0,255	0/1:81:39:255,0,255	0/1:83:47:255,0,255	0/1:59:22:255,0,255	.	1/1:58:58:255,175,0	1/1:63:63:255,190,0	0/1:66:38:255,0,255	0/1:65:32:255,0,255	1/1:121:121:255,255,0	0/1:35:21:255,0,255	.	0/1:80:36:255,0,255	C	T	4	15	STING-associated vasculopathy, infantile-onset, 615934 (3)	.	Defective IFNbeta stimulation(CM114286)	CGC-CAC|Arg71His|c.212G>A|p.R71H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21248775&dopt=Abstract)	21248775|26229117|26229115|25642965|25636800|25401470|25320273|25029335|24560620|24185615|24077100|23258413|23258412|22000020|21947006|19776740|19433799|19416887|19285439|18724357|18559423	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY	.	.	.	PS1,PS3,BA1
L	5	142661490	rs6196	A	G	159.25	PASS	NR3C1	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	exonic	NM_000176,NM_001018074,NM_001018075,NM_001018076,NM_001018077,NM_001024094,NM_001204258,NM_001204259,NM_001204260,NM_001204261,NM_001204262,NM_001204263,NM_001204264	.	synonymous SNV	NR3C1:NM_000176:exon9:c.T2298C:p.N766N,NR3C1:NM_001018074:exon9:c.T2298C:p.N766N,NR3C1:NM_001018075:exon9:c.T2298C:p.N766N,NR3C1:NM_001018076:exon9:c.T2298C:p.N766N,NR3C1:NM_001018077:exon9:c.T2298C:p.N766N,NR3C1:NM_001024094:exon9:c.T2301C:p.N767N,NR3C1:NM_001204258:exon9:c.T2220C:p.N740N,NR3C1:NM_001204259:exon9:c.T2043C:p.N681N,NR3C1:NM_001204260:exon9:c.T2031C:p.N677N,NR3C1:NM_001204261:exon9:c.T2007C:p.N669N,NR3C1:NM_001204262:exon9:c.T1353C:p.N451N,NR3C1:NM_001204263:exon9:c.T1308C:p.N436N,NR3C1:NM_001204264:exon9:c.T1293C:p.N431N	ENST00000394464.2,ENST00000394466.2,ENST00000504572.1,ENST00000503201.1,ENST00000416954.2,ENST00000415690.2,ENST00000343796.2,ENST00000424646.2,ENST00000231509.3	.	5q31.3	.	.	Score=808;Name=V$OCT1_04	.	.	rs6196	.	.	0.0714286	0.0873	0.11881	0.1650	0.1299	0.0694	0.0650842447167	0.0781250278846	.	.	.	.	.	.	.	.	1.070	2.657	.	3.57	AC=5;AN=8;BQB=0.95494;DP4=17,2,33,2;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.760054;SF=4,13,14,20;SGB=-0.690438;VDB=0.0177054	GT:DP:DV:PL	.	.	.	.	1/1:17:17:255,51,0	.	.	.	.	.	.	.	.	0/1:12:7:189,0,184	0/1:6:3:135,0,130	.	.	.	.	.	0/1:19:8:184,0,249	.	.	.	.	A	G	1	3	Glucocorticoid resistance, 615962 (3)	.	Systemic lupus erythematosus, association with(CS044090)	IVS10 as T-C +117|c.2298T>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15212141&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21050724&dopt=Abstract)	15212141|21050724|25970251|23748442|23508108|23329051|23329050|22170608|19372434|17848410|17635946|17535992|17018659|16684836|16636127|16449337|16118334|16030164|15834420|15769988|15488991|15292341|15280545|15276593|15037546|14764810|14715855|12949501|12754700|12724519|12351458|12151000|12050230|11932321|11751688|11701741|11589680|11463861|11381138|11344238|11238589|10902803|10678832|10639135|10566686|10471508|9604929|9506748|9435432|9150737|9121489|8923462|8863343|8764121|8748120|8621628|8445027|8316249|7769088|7410540|6841559|6282933|3980675|3858847|3841189|3782421|3771797|3474612|3304776|2996089|2907873|2867473|2793174|2744768|2581314|2294753|2001394|1741058|1707881|1704018|186477	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	ORGANELLE_PART;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEUS;MITOCHONDRIAL_MATRIX;MITOCHONDRIAL_LUMEN;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_SMAD2_3NUCLEARPATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HNF3BPATHWAY;PID_REG_GR_PATHWAY;PID_AR_TF_PATHWAY;PID_AP1_PATHWAY	BIOCARTA_GCR_PATHWAY;BIOCARTA_NTHI_PATHWAY	REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY;REACTOME_CIRCADIAN_CLOCK	PS1,PS3,BA1
L	5	148206440	rs1042713	G	A	215.73	PASS	ADRB2	adrenoceptor beta 2, surface	exonic	NM_000024	.	missense SNV	ADRB2:NM_000024:exon1:c.G46A:p.G16R	ENST00000305988.4	CpG: 42	5q32	.	.	Score=825;Name=V$COMP1_01	.	.	rs1042713	CLINSIG=other|other;CLNDBN=Asthma\x2c_nocturnal\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to;CLNACC=RCV000019316.2|RCV000019317.2;CLNDSDB=.|.;CLNDSDBID=.|.	.	0.579734	0.5486	0.475639	0.4149	0.4204	0.5480	0.579734	0.550480598558	0.348,T	0.032,B	0.043,B	1,P	0.748967,N	0.895,L	-0.17,T	8.2137	2.583	1.132	.	3.73	AC=35;AN=44;BQB=0.379295;DP4=122,14,531,55;DP=1000;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.701715;SF=0,1,2,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23;SGB=-0.693054;VDB=0.207456	GT:DP:DV:PL	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:38:38:255,114,0	1/1:38:38:255,114,0	1/1:36:36:255,108,0	1/1:51:51:255,154,0	.	0/1:48:21:255,0,255	1/1:28:28:255,84,0	0/1:17:10:221,0,144	1/1:25:25:255,75,0	0/1:37:22:255,0,255	0/1:27:16:229,0,209	1/1:36:36:255,108,0	0/1:36:16:255,0,255	0/1:31:18:255,0,232	1/1:38:38:255,114,0	1/1:25:25:255,75,0	0/1:34:19:249,0,255	1/1:32:32:255,96,0	1/1:36:36:255,108,0	.	0/1:12:6:115,0,141	0/1:41:19:245,0,255	.	G	A	13	9	{Asthma, nocturnal, susceptibility to}, 600807 (3); {Obesity, susceptibility to}, 601665 (3); Beta-2-adrenoreceptor agonist, reduced response to (3)	.	Asthma, nocturnal, association with(CM950016)	AGA-GGA|Arg16Gly|c.46A>G|p.R16G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7706471&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18855131&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24499171&dopt=Abstract)	7706471|18855131|24499171|21956331|21772288|21228876|21228869|21183077|20215008|20185685|19576569|17962520|17962519|17952055|17115048|16596417|15867853|15724149|15500895|15284533|15105445|14557466|14500986|12571262|12161655|12030897|11739457|11588219|11441182|10984540|10393695|10358009|10323412|9924018|9700190|9522789|9399966|9399946|9275150|8383511|7706471|6296869|3041227|3025863|2840663|2823249|2154750|1676978|1334970	POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;REGULATION_OF_MAPKKK_CASCADE;REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;ACTIVATION_OF_MAPK_ACTIVITY;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;VACUOLAR_TRANSPORT;CELLULAR_COMPONENT_ASSEMBLY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;PROTEIN_KINASE_CASCADE;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;LYSOSOMAL_TRANSPORT;TRANSPORT;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_COMPLEX_ASSEMBLY;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;RECEPTOR_MEDIATED_ENDOCYTOSIS;NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_MAPKKK_CASCADE;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ADENYLATE_CYCLASE_ACTIVATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_BINDING;CAMP_MEDIATED_SIGNALING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;VACUOLE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;LYSOSOME;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_HOMODIMERIZATION_ACTIVITY;AMINE_RECEPTOR_ACTIVITY;HORMONE_BINDING;IDENTICAL_PROTEIN_BINDING;NEUROTRANSMITTER_BINDING;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;AMINE_BINDING	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS	PID_ARF6_TRAFFICKINGPATHWAY;PID_ARF6_PATHWAY	BIOCARTA_GCR_PATHWAY;BIOCARTA_CFTR_PATHWAY;BIOCARTA_PLCE_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	5	148206473	rs1042714	G	C	227.52	PASS	ADRB2	adrenoceptor beta 2, surface	exonic	NM_000024	.	missense SNV	ADRB2:NM_000024:exon1:c.G79C:p.E27Q	ENST00000305988.4	CpG: 42	5q32	.	.	Score=791;Name=V$PAX2_01	.	.	rs1042714	CLINSIG=other|other|other;CLNDBN=Asthma\x2c_childhood\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to|Obesity;CLNACC=RCV000019318.2|RCV000019319.2|RCV000033191.2;CLNDSDB=.|.|MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=.|.|C0028754:601665:71529:414916001	.	0.915282	0.9266	0.795727	0.6600	0.6834	0.9103	0.863705644717	0.877403598558	0.413,T	0.009,B	0.009,B	1,P	0.132808,N	1.04,L	1.19,T	11.1901	1.387	1.400	.	4.04	AC=48;AN=50;BQB=0.975242;DP4=41,5,931,180;DP=1559;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.939413;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.717179	GT:DP:DV:PL	1/1:45:45:255,135,0	1/1:39:39:255,117,0	1/1:54:54:255,163,0	1/1:46:46:255,138,0	1/1:45:45:255,135,0	1/1:73:73:255,220,0	0/1:44:24:255,0,255	1/1:54:54:255,163,0	1/1:45:45:255,135,0	1/1:26:26:255,78,0	1/1:42:42:255,126,0	1/1:55:55:255,166,0	1/1:32:32:255,96,0	1/1:49:49:255,148,0	1/1:45:45:255,135,0	1/1:38:38:255,114,0	1/1:45:45:255,135,0	1/1:30:30:255,90,0	1/1:42:42:255,126,0	1/1:47:47:255,141,0	1/1:43:43:255,129,0	1/1:71:71:255,214,0	1/1:19:19:255,57,0	0/1:55:29:255,0,255	1/1:73:73:255,220,0	G	C	23	2	{Asthma, nocturnal, susceptibility to}, 600807 (3); {Obesity, susceptibility to}, 601665 (3); Beta-2-adrenoreceptor agonist, reduced response to (3)	.	Obesity, association with(CM970061)	CAA-GAA|Gln27Glu|c.79C>G|p.Q27E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9399946&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16573811&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12563174&dopt=Abstract)	9399946|16573811|12563174|21956331|21772288|21228876|21228869|21183077|20215008|20185685|19576569|17962520|17962519|17952055|17115048|16596417|15867853|15724149|15500895|15284533|15105445|14557466|14500986|12571262|12161655|12030897|11739457|11588219|11441182|10984540|10393695|10358009|10323412|9924018|9700190|9522789|9399966|9399946|9275150|8383511|7706471|6296869|3041227|3025863|2840663|2823249|2154750|1676978|1334970	POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;REGULATION_OF_MAPKKK_CASCADE;REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;ACTIVATION_OF_MAPK_ACTIVITY;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;VACUOLAR_TRANSPORT;CELLULAR_COMPONENT_ASSEMBLY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;PROTEIN_KINASE_CASCADE;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;LYSOSOMAL_TRANSPORT;TRANSPORT;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_COMPLEX_ASSEMBLY;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;RECEPTOR_MEDIATED_ENDOCYTOSIS;NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_MAPKKK_CASCADE;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ADENYLATE_CYCLASE_ACTIVATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_BINDING;CAMP_MEDIATED_SIGNALING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;VACUOLE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;LYSOSOME;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_HOMODIMERIZATION_ACTIVITY;AMINE_RECEPTOR_ACTIVITY;HORMONE_BINDING;IDENTICAL_PROTEIN_BINDING;NEUROTRANSMITTER_BINDING;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;AMINE_BINDING	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS	PID_ARF6_TRAFFICKINGPATHWAY;PID_ARF6_PATHWAY	BIOCARTA_GCR_PATHWAY;BIOCARTA_CFTR_PATHWAY;BIOCARTA_PLCE_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
M	5	149360877	rs30832	T	C	228	PASS	SLC26A2	solute carrier family 26 (anion exchanger), member 2	exonic	NM_000112	.	missense SNV	SLC26A2:NM_000112:exon3:c.T1721C:p.I574T	ENST00000286298.4	.	5q32	.	.	.	.	.	rs30832	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000176982.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	0.9932	0.9928	1	1	1	1.0,T	0.0,B	0.0,B	1,P	0.002295,N	-1.555,N	-2.26,D	9.8988	0.476	1.640	.	4.37	AC=50;AN=50;DP4=0,0,515,361;DP=1177;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693139;VDB=0.672478	GT:DP:DV:PL	1/1:36:36:255,108,0	1/1:39:39:255,117,0	1/1:36:36:255,108,0	1/1:45:45:255,135,0	1/1:36:36:255,108,0	1/1:34:34:255,102,0	1/1:29:29:255,87,0	1/1:49:49:255,148,0	1/1:26:26:255,78,0	1/1:27:27:255,81,0	1/1:46:46:255,138,0	1/1:38:38:255,114,0	1/1:24:24:255,72,0	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:33:33:255,99,0	1/1:41:41:255,123,0	1/1:31:31:255,93,0	1/1:26:26:255,78,0	1/1:31:31:255,93,0	1/1:53:53:255,160,0	1/1:34:34:255,102,0	1/1:20:20:255,60,0	1/1:32:32:255,96,0	1/1:54:54:255,163,0	T	C	25	0	Diastrophic dysplasia, 222600 (3); Atelosteogenesis II, 256050 (3); Achondrogenesis Ib, 600972 (3); Epiphyseal dysplasia, multiple, 4, 226900 (3); Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3); De la Chapelle dysplasia, 256050 (3)	.	Diastrophic dysplasia(CM016008)	ACT-ATT|Thr574Ile|c.1721C>T|p.T574I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11241838&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	11241838|20981092|18925670|18708426|15703192|15316973|15294877|12966518|12220459|11565064|11448940|11303514|11241838|10482955|10466420|10465113|9637425|9575183|8931695|8723100|8723083|8571951|8528239|7923357|4644462|702237	INORGANIC_ANION_TRANSPORT;ESTABLISHMENT_OF_LOCALIZATION;ANION_TRANSPORT;TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	PS1,PS3,BA1
L	5	149457678	rs2228422	G	A	223.2	PASS	CSF1R	colony stimulating factor 1 receptor	exonic	NM_001288705,NM_005211	.	synonymous SNV	CSF1R:NM_001288705:exon4:c.C726T:p.T242T,CSF1R:NM_005211:exon5:c.C726T:p.T242T	ENST00000286301.3,ENST00000543093.1	.	5q32	.	.	Score=886;Name=V$RORA1_01	.	.	rs2228422	.	.	0.214286	0.2113	0.38738	0.4807	0.5153	0.2173	0.218223764165	0.229567454327	.	.	.	.	.	.	.	.	-0.060	0.019	.	.	AC=18;AN=30;BQB=0.995813;DP4=329,144,429,175;DP=1460;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.510077;SF=4,5,7,8,9,10,12,13,14,15,16,18,19,20,23;SGB=-0.692976;VDB=0.128584	GT:DP:DV:PL	.	.	.	.	0/1:59:26:255,0,255	0/1:105:46:255,0,255	.	0/1:83:36:255,0,255	0/1:72:33:255,0,255	0/1:55:25:255,0,255	0/1:71:33:255,0,255	.	1/1:62:62:255,187,0	0/1:80:37:255,0,255	1/1:75:75:255,226,0	1/1:71:71:255,214,0	0/1:70:29:255,0,255	.	0/1:49:29:255,0,255	0/1:69:30:255,0,255	0/1:58:23:255,0,255	.	.	0/1:98:49:255,0,255	.	G	A	3	12	Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)	.	Loss of enhancer activity(CM153945)	ACC-ACT|Thr242Thr|c.726C>T|p.T242T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25913741&dopt=Abstract)	25913741|24336230|23408870|20966214|20436485|20418886|19153373|16523341|12618529|11014194|8973913|8614507|8001978|6582485|3974576|3863666|3702936|3484837|3476856|3416066|3052279|2986142|2921036|2846185|2524025|2406720|1829836|1660841	SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_PATHWAYS_IN_CANCER	PID_PTP1BPATHWAY;PID_TCPTP_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_CMYB_PATHWAY	BIOCARTA_CBL_PATHWAY;BIOCARTA_ETS_PATHWAY	.	PS1,PS3,BA1
L	5	150227998	rs10065172	C	T	223.41	PASS	IRGM	immunity-related GTPase family, M	exonic	NM_001145805	.	synonymous SNV	IRGM:NM_001145805:exon2:c.C313T:p.L105L	ENST00000522154.1	.	5q33.1	.	.	.	.	.	rs10065172	CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_19;CLNACC=RCV000023694.1;CLNDSDB=Gene:MedGen:OMIM;CLNDSDBID=100190926:C2677079:612278	.	0.465116	0.4335	0.303714	0.1949	0.1913	0.3631	0.416193	0.442307574519	.	.	.	.	.	.	.	.	-0.573	0.281	.	.	AC=21;AN=34;BQB=0.477602;DP4=136,119,242,174;DP=897;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.80073;SF=0,2,3,4,5,9,10,12,13,14,15,16,17,18,19,20,21;SGB=-0.692562;VDB=0.333593	GT:DP:DV:PL	0/1:41:22:255,0,255	.	0/1:40:25:255,0,255	0/1:32:13:255,0,255	1/1:33:33:255,99,0	0/1:54:25:255,0,255	.	.	.	0/1:31:15:255,0,255	0/1:36:20:255,0,255	.	1/1:23:23:255,69,0	0/1:44:20:255,0,255	0/1:46:29:255,0,255	0/1:44:21:255,0,255	1/1:42:42:255,126,0	0/1:26:13:255,0,255	0/1:36:20:255,0,255	0/1:43:21:255,0,255	0/1:50:24:255,0,255	1/1:50:50:255,151,0	.	.	.	C	T	4	13	{Mycobacterium tuberculosis, protection against}, 607948 (3); Inflammatory bowel disease 19, 612278 (3)	.	Crohn's disease, susceptibility to, association(CM073146)	CTG-TTG|Leu105Leu|c.313C>T|p.L105L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17554261&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21278745&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21283700&dopt=Abstract)	17554261|21278745|21283700|21278745|20360734|20106866|19750224|19174780|19165925|18985712|17982087|17554300|17554261|16888103|16339555|16277747|14576437|11457893|7561525	.	.	.	.	.	.	.	PS1,PS3,BA1
L	5	167858371	rs3822660	G	T	218.58	PASS	WWC1	WW and C2 domain containing 1	exonic	NM_001161661,NM_001161662,NM_015238	.	missense SNV	WWC1:NM_001161661:exon15:c.G2202T:p.M734I,WWC1:NM_001161662:exon15:c.G2202T:p.M734I,WWC1:NM_015238:exon15:c.G2202T:p.M734I	ENST00000265293.4,ENST00000522140.1,ENST00000521089.1	.	5q34	.	.	Score=689;Name=V$PPARG_02	.	.	rs3822660	.	.	0.237542	0.2312	0.160743	.	0.0907	0.2343	0.218989497703	0.222356194712	.	.	.	0.989321,P	.	.	.	1.9532	0.200	-0.057	0.939074,10.31	.	AC=14;AN=24;BQB=0.762188;DP4=239,86,229,116;DP=927;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.952133;SF=1,3,7,9,10,11,14,15,19,20,22,23;SGB=-0.693079;VDB=0.177975	GT:DP:DV:PL	.	0/1:52:29:255,0,255	.	0/1:54:24:255,0,255	.	.	.	0/1:64:24:255,0,255	.	0/1:32:9:203,0,255	0/1:74:33:255,0,255	1/1:54:54:255,163,0	.	.	0/1:65:30:255,0,255	0/1:56:26:255,0,255	.	.	.	1/1:56:55:255,109,0	0/1:63:23:255,0,255	.	0/1:29:11:255,0,255	0/1:71:27:255,0,255	.	G	T	2	10	[Memory, enhanced, QTL], 615602 (3)	.	Improved memory performance, association with(CM135712)	ATG-ATT|Met734Ile|c.2202G>T|p.M734I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23778582&dopt=Abstract)	23778582|23926262|23065961|17353070|17053149|15081397|12559952|10048485	.	.	.	.	.	.	REACTOME_SIGNALING_BY_HIPPO	PS1,PS3,BA1
L	5	167858372	rs3822659	T	G	219.33	PASS	WWC1	WW and C2 domain containing 1	exonic	NM_001161661,NM_001161662,NM_015238	.	missense SNV	WWC1:NM_001161661:exon15:c.T2203G:p.S735A,WWC1:NM_001161662:exon15:c.T2203G:p.S735A,WWC1:NM_015238:exon15:c.T2203G:p.S735A	ENST00000265293.4,ENST00000522140.1,ENST00000521089.1	.	5q34	.	.	Score=689;Name=V$PPARG_02	.	.	rs3822659	.	.	0.237542	0.2312	0.160743	.	0.0907	0.2344	0.21745805513	0.222356194712	0.152,T	0.182,B	0.144,B	7.18787e-06,P	0.000000,D	2.79,M	1.73,T	10.3846	1.977	4.455	3.435021,23.0	5.24	AC=14;AN=24;BQB=0.973381;DP4=238,86,229,118;DP=927;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997449;SF=1,3,7,9,10,11,14,15,19,20,22,23;SGB=-0.693079;VDB=0.183496	GT:DP:DV:PL	.	0/1:53:29:255,0,255	.	0/1:53:23:255,0,255	.	.	.	0/1:64:24:255,0,255	.	0/1:31:9:212,0,255	0/1:73:33:255,0,255	1/1:54:54:255,163,0	.	.	0/1:66:31:255,0,255	0/1:56:26:255,0,255	.	.	.	1/1:57:56:255,112,0	0/1:63:23:255,0,255	.	0/1:30:12:255,0,255	0/1:71:27:255,0,255	.	T	G	2	10	[Memory, enhanced, QTL], 615602 (3)	.	Improved memory performance, association with(CM135713)	TCC-GCC|Ser735Ala|c.2203T>G|p.S735A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23778582&dopt=Abstract)	23778582|23926262|23065961|17353070|17053149|15081397|12559952|10048485	.	.	.	.	.	.	REACTOME_SIGNALING_BY_HIPPO	PS1,PS3,BA1
L	5	172662024	rs2277923	T	C	224.86	PASS	NKX2-5	NK2 homeobox 5	exonic	NM_001166175,NM_001166176,NM_004387	.	synonymous SNV	NKX2-5:NM_001166175:exon1:c.A63G:p.E21E,NKX2-5:NM_001166176:exon1:c.A63G:p.E21E,NKX2-5:NM_004387:exon1:c.A63G:p.E21E	ENST00000424406.2,ENST00000521848.1,ENST00000329198.4	CpG: 62	5q35.1	.	.	.	.	.	rs2277923	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000037967.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.63289	0.6339	0.535743	0.4042	0.4052	0.6318	0.63399667075	0.621393870192	.	.	.	.	.	.	.	.	0.543	0.534	.	2.94	AC=31;AN=42;BQB=0.364359;DP4=157,150,454,478;DP=1648;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999634;SF=0,1,2,3,4,6,7,9,10,11,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.00234472	GT:DP:DV:PL	1/1:53:53:255,160,0	0/1:64:36:255,0,255	1/1:77:77:255,232,0	0/1:63:36:255,0,255	0/1:69:36:255,0,255	.	0/1:60:33:255,0,255	0/1:76:36:255,0,255	.	0/1:39:17:255,0,255	0/1:73:32:255,0,255	1/1:56:56:255,169,0	1/1:78:78:255,235,0	.	1/1:73:73:255,220,0	0/1:52:30:255,0,255	1/1:66:66:255,199,0	1/1:46:46:255,138,0	1/1:70:70:255,211,0	.	0/1:62:29:255,0,255	1/1:53:53:255,160,0	0/1:29:16:255,0,255	1/1:44:44:255,132,0	0/1:36:15:255,0,255	T	C	10	11	Atrial septal defect 7, with or without AV conduction defects, 108900 (3); Tetrology of Fallot, 187500 (3); Hypothyroidism, congenital nongoitrous, 5, 225250 (3); Ventricular septal defect 3, 614432 (3); Hypoplastic left heart syndrome 2, 614435 (3); Conotruncal heart malformations, variable, 217095 (3)	.	Cardiac disease, modifier of(CM1312416)	GAA-GAG|Glu21Glu|c.63A>G|p.E21E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24376681&dopt=Abstract)	24376681|25830876|23579497|22560297|21165553|21110066|20846672|20807224|20659440|20456451|19948535|19483677|18084293|17823370|17604724|16896344|16418214|16329098|15917268|15810002|15342699|15109497|15085192|14607454|12644182|12414819|12360233|12023302|11714651|11431700|10943630|10903346|10587520|10398271|10077612|9651244|8900537|8786091|7915669|7894168|7690144|7665173|7628699|1260978	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	PID_SMAD2_3NUCLEARPATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_NFAT_PATHWAY	.	PS1,PS3,BA1
L	5	174156168	rs4242182	T	C	227.76	PASS	MSX2	msh homeobox 2	exonic	NM_002449	.	missense SNV	MSX2:NM_002449:exon2:c.T386C:p.M129T	ENST00000507785.1,ENST00000239243.6	.	5q35.2	.	.	Score=864;Name=V$GR_Q6	Score=0.927718;Name=chr17:56234746	.	rs4242182	.	.	0.981728	0.9821	0.765775	0.7553	0.8757	0.9832	0.983154866769	0.980769574519	0.108,T	0.001,B	0.0,B	1.19382e-27,P	0.004979,N	1.04,L	-3.71,D	15.3678	2.219	4.549	1.019154,10.77	5.28	AC=49;AN=50;BQB=1;DP4=21,4,1108,138;DP=1730;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.341157	GT:DP:DV:PL	1/1:49:49:255,148,0	1/1:54:54:255,163,0	1/1:50:50:255,151,0	1/1:53:53:255,160,0	1/1:39:39:255,117,0	1/1:63:63:255,190,0	1/1:48:48:255,144,0	1/1:56:56:255,169,0	1/1:49:49:255,148,0	1/1:42:42:255,126,0	1/1:43:43:255,129,0	1/1:52:51:255,120,0	1/1:40:40:255,120,0	0/1:58:34:255,0,255	1/1:49:49:255,148,0	1/1:41:41:255,123,0	1/1:48:48:255,144,0	1/1:49:49:255,148,0	1/1:55:55:255,166,0	1/1:65:65:255,196,0	1/1:57:57:255,172,0	1/1:84:84:255,253,0	1/1:22:22:255,66,0	1/1:56:56:255,169,0	1/1:49:49:255,148,0	T	C	24	1	Craniosynostosis, type 2, 604757 (3); Parietal foramina 1, 168500 (3); Parietal foramina with cleidocranial dysplasia, 168550 (3)	.	Neural tube defect, increased risk, association with(CM1111025)	ACG-ATG|Thr129Met|c.386C>T|p.T129M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21362336&dopt=Abstract)	21362336|18000908|16319823|16222674|15456894|15214020|14571277|12766037|10767351|10742104|10742103|9147639|8968743|8668339|8499900|8357019|8106171|7597092|7482767	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	.	.	.	PS1,PS3,BA1
L	6	5260936	rs2224391	A	C	166.5	PASS	LYRM4	LYR motif containing 4	exonic	NM_001164840,NM_001164841,NM_020408	.	missense SNV	LYRM4:NM_001164840:exon1:c.T31G:p.S11A,LYRM4:NM_001164841:exon1:c.T31G:p.S11A,LYRM4:NM_020408:exon1:c.T31G:p.S11A	ENST00000500576.2,ENST00000464010.1,ENST00000480566.1,ENST00000468929.1,ENST00000330636.4	CpG: 112	6p25.1	.	.	Score=804;Name=V$COMP1_01	.	.	rs2224391	.	Height	0.269103	0.256	0.402955	0.4143	0.3577	0.4089	0.25267974732	0.253605644231	0.179,T	0.082,B	0.052,B	0.999997,P	0.819095,N	.	0.55,T	6.484	0.551	1.218	3.065521,22.4	4.18	AC=10;AN=20;BQB=0.397295;DP4=74,21,67,17;DP=244;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.397295;SF=0,4,5,7,9,10,11,16,20,23;SGB=-0.556411;VDB=0.325692	GT:DP:DV:PL	0/1:12:4:84,0,248	.	.	.	0/1:11:6:143,0,121	0/1:24:9:225,0,255	.	0/1:18:6:146,0,255	.	0/1:15:6:154,0,226	0/1:20:11:255,0,220	0/1:20:11:229,0,242	.	.	.	.	0/1:17:9:251,0,209	.	.	.	0/1:16:10:255,0,151	.	.	0/1:26:12:255,0,255	.	A	C	0	10	?Combined oxidative phosphorylation deficiency 19, 615595 (3)	21998595(3E-6)	Cognitive deficit in schizophrenia, association with(CM1212003)	TCT-GCT|Ser11Ala|c.31T>G|p.S11A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21968932&dopt=Abstract)	21968932|23814038|19454487|17331979|16341090	.	.	.	.	.	.	.	PS1,PS3,BA1
L	6	5431340	rs11243011	A	G	201.57	PASS	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	exonic	NM_006567	.	missense SNV	FARS2:NM_006567:exon4:c.A839G:p.N280S	ENST00000324331.6,ENST00000274680.4	.	6p25.1	.	.	.	.	.	rs11243011	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000124983.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.5	0.4772	0.235224	0.1522	0.2188	0.4678	0.485451565084	0.485576899038	0.355,T	0.001,B	0.001,B	0.478581,P	0.010831,N	-1.405,N	0.01,T	8.9638	0.402	3.369	1.401829,12.80	3.13	AC=28;AN=46;BQB=0.253351;DP4=134,65,193,76;DP=653;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.896474;SF=1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.610267	GT:DP:DV:PL	.	0/1:12:5:186,0,211	1/1:24:24:255,72,0	0/1:23:14:255,0,199	0/1:17:11:255,0,138	0/1:27:7:172,0,255	1/1:18:18:255,54,0	0/1:24:10:218,0,255	0/1:30:10:255,0,255	.	0/1:22:12:255,0,255	0/1:26:10:244,0,255	0/1:18:6:157,0,255	0/1:10:8:255,0,44	0/1:16:8:172,0,255	0/1:18:9:255,0,225	0/1:30:14:255,0,255	0/1:23:12:255,0,242	0/1:17:6:164,0,234	0/1:24:13:255,0,255	0/1:12:7:234,0,113	1/1:22:22:255,66,0	1/1:14:14:255,42,0	0/1:22:10:255,0,255	1/1:19:19:255,57,0	A	G	5	18	Combined oxidative phosphorylation deficiency 14, 614946 (3)	.	Cognitive deficit in schizophrenia, association with(CM1212006)	AAC-AGC|Asn280Ser|c.839A>G|p.N280S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21968932&dopt=Abstract)	21968932|22833457|22499341|15779907|10329163	TRNA_PROCESSING;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;TRNA_METABOLIC_PROCESS;RNA_PROCESSING;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION	CELL_FRACTION;SOLUBLE_FRACTION	LIGASE_ACTIVITY;RNA_BINDING;LIGASE_ACTIVITY_FORMING_CARBON_OXYGEN_BONDS	KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_MITOCHONDRIAL_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	PS1,PS3,BA1
L	6	7580958	rs2076299	A	G	221.79	PASS	DSP	desmoplakin	exonic	NM_004415	.	missense SNV	DSP:NM_004415:exon23:c.A4535G:p.Y1512C	ENST00000418664.2,ENST00000379802.3	.	6p24.3	.	.	Score=924;Name=V$TCF11_01	.	.	rs2076299	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000038050.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.292359	0.2867	0.203275	0.1209	0.1156	0.2954	0.278713474732	0.290865658654	0.179,T	0.237,B	0.454,P	1.06505e-11,P	0.132315,N	1.1,L	-0.46,T	5.5709	0.431	0.828	.	.	AC=16;AN=28;BQB=0.513552;DP4=195,57,212,87;DP=724;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.141082;SF=0,1,3,5,8,9,10,11,16,17,18,20,21,24;SGB=-0.692831;VDB=0.173674	GT:DP:DV:PL	0/1:46:24:255,0,255	0/1:34:11:255,0,255	.	1/1:40:40:255,120,0	.	0/1:41:16:255,0,255	.	.	0/1:26:11:241,0,255	0/1:29:16:255,0,255	0/1:45:20:255,0,255	0/1:47:22:255,0,255	.	.	.	.	0/1:40:15:255,0,255	0/1:39:16:255,0,255	1/1:28:28:255,84,0	.	0/1:40:17:255,0,255	0/1:65:46:255,0,255	.	.	0/1:31:17:255,0,255	A	G	2	12	Keratosis palmoplantaris striata II, 612908 (3); Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome, 607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)	.	Arrhythmogenic right ventricular cardiomyopathy(CM150220)	TAT-TGT|Tyr1512Cys|c.4535A>G|p.Y1512C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25445213&dopt=Abstract)	25445213|23137101|22795705|20940358|20738328|20613772|20302578|16917092|16628197|16467215|16175511|12373648|12366696|11841538|11781569|11278896|11063735|9887343|9417921|9229116|8769422|7693716|2247105|1889810|1731325|1689290|1601988	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;KERATINOCYTE_DIFFERENTIATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;EPIDERMIS_DEVELOPMENT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;PROTEIN_BINDING_BRIDGING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_AJDISS_2PATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PS1,PS3,BA1
L	6	12296255	rs5370	G	T	222.5	PASS	EDN1	endothelin 1	exonic	NM_001168319,NM_001955	.	missense SNV	EDN1:NM_001168319:exon5:c.G591T:p.K197N,EDN1:NM_001955:exon5:c.G594T:p.K198N	ENST00000379375.5	.	6p24.1	.	.	.	.	.	rs5370	CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7;CLNACC=RCV000018132.2;CLNDSDB=MedGen;CLNDSDBID=CN071314	Circulating vasoactive peptide levels	0.295681	0.2857	0.247404	0.2062	0.2345	0.2804	0.290964846861	0.295672983173	0.117,T	0.071,B	0.454,P	0.998429,P	0.081852,N	1.32,L	-1.87,D	9.471	0.116	0.049	.	2.18	AC=13;AN=24;BQB=0.793727;DP4=156,42,192,45;DP=595;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.77828;SF=0,1,4,5,7,13,16,17,18,19,20,21;SGB=-0.692562;VDB=0.0322022	GT:DP:DV:PL	0/1:39:22:255,0,255	0/1:31:15:255,0,255	.	.	0/1:28:18:255,0,211	0/1:57:23:255,0,255	.	0/1:34:18:255,0,255	.	.	.	.	.	0/1:48:22:255,0,255	.	.	0/1:34:17:255,0,255	0/1:23:14:255,0,171	0/1:41:21:255,0,255	0/1:24:13:255,0,246	1/1:31:31:255,93,0	0/1:45:23:255,0,255	.	.	.	G	T	1	11	Auriculocondylar syndrome 3, 615706 (3); Question mark ears, isolated, 612798 (3); {High density lipoprotein cholesterol level QTL 7} (3)	23381795(1E-27)	Higher blood pressure in overweight people, association(CM993569)	AAG-AAT|Lys198Asn|c.594G>T|p.K198N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10334806&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19730395&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18580062&dopt=Abstract)	10334806|19730395|18580062|25403488|24268655|23315542|18288492|17357073|15314687|15148269|15067320|14764893|14718401|14691166|12941866|12847519|12244558|12189238|11755863|11415518|11274089|11274080|10852470|10770212|9649553|9449665|9449664|9284755|8824799|8490632|8450044|8152482|7717408|7615798|7614707|2678110|2670930|2659594|2649896|2558568|2018043|1347490	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;SIGNAL_TRANSDUCTION;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_PROLIFERATION	EXTRACELLULAR_REGION;CELL_FRACTION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;SOLUBLE_FRACTION	RECEPTOR_BINDING;HORMONE_ACTIVITY	KEGG_MELANOGENESIS	PID_ENDOTHELINPATHWAY;PID_AP1_PATHWAY;PID_HIF1_TFPATHWAY	BIOCARTA_HIF_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_CARDIACEGF_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	6	18122506	rs10949483	G	A	224	PASS	NHLRC1	NHL repeat containing E3 ubiquitin protein ligase 1	exonic	NM_198586	.	missense SNV	NHLRC1:NM_198586:exon1:c.C332T:p.P111L	ENST00000340650.3	CpG: 77	6p22.3	.	.	.	.	.	rs10949483	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000117782.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.39701	0.3869	0.342851	0.3370	0.4211	0.4314	0.399693932619	0.388221069712	0.032,D	0.04,B	0.164,B	0.930237,P	0.000640,D	1.59,L	-4.18,D	17.5815	2.418	1.491	2.415769,18.92	5.23	AC=20;AN=30;BQB=0.491401;DP4=97,168,232,299;DP=1046;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.939948;SF=0,1,2,3,4,5,6,12,13,14,15,16,18,20,21;SGB=-0.693147;VDB=0.10487	GT:DP:DV:PL	1/1:46:46:255,138,0	1/1:44:44:255,132,0	0/1:45:23:255,0,255	0/1:54:22:255,0,255	0/1:49:28:255,0,255	1/1:70:70:255,211,0	0/1:68:33:255,0,255	.	.	.	.	.	0/1:40:21:255,0,255	0/1:58:26:255,0,255	0/1:40:22:255,0,255	1/1:49:49:255,148,0	1/1:51:51:255,154,0	.	0/1:40:21:255,0,255	.	0/1:44:26:255,0,255	0/1:98:49:255,0,255	.	.	.	G	A	5	10	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)	.	Myoclonic epilepsy of Lafora(CM065338)	CCC-CTC|Pro111Leu|c.332C>T|p.P111L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16529633&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21228398&dopt=Abstract)	16529633|20981092|21228398|19036738|17908927|17337485|16950819|16134145|16115820|16021330|15930137|15781812|15637270|12958597	.	.	.	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	.	PS1,PS3,BA1
L	6	24291203	rs2274305	T	C	221.84	PASS	DCDC2	doublecortin domain containing 2	exonic	NM_001195610,NM_016356	.	missense SNV	DCDC2:NM_016356:exon5:c.A661G:p.S221G,DCDC2:NM_001195610:exon6:c.A661G:p.S221G	ENST00000378454.3	.	6p22.3	.	.	.	.	.	rs2274305	.	.	0.777409	0.7827	0.516973	0.4825	0.6393	0.7965	0.764931058193	0.788461716346	0.221,T	0.0,B	0.0,B	0.149799,P	0.004848,N	-0.65,N	-3.26,D	9.4015	0.136	1.220	.	.	AC=42;AN=50;BQB=0.0814015;DP4=87,25,419,163;DP=979;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.756762;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692717;VDB=0.659399	GT:DP:DV:PL	0/1:38:23:255,0,255	1/1:37:37:255,111,0	0/1:27:12:255,0,255	0/1:20:7:190,0,255	1/1:31:31:255,93,0	1/1:22:22:255,66,0	0/1:31:16:255,0,255	1/1:29:29:255,87,0	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:14:14:255,42,0	0/1:29:16:255,0,255	0/1:22:11:253,0,226	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:36:36:255,108,0	1/1:23:23:255,69,0	1/1:38:38:255,114,0	0/1:22:8:217,0,255	1/1:28:28:255,84,0	1/1:32:32:255,96,0	1/1:20:20:255,60,0	0/1:30:14:255,0,255	1/1:37:37:255,111,0	T	C	17	8	Nephronophthisis 19, 616217 (3); ?Deafness, autosomal recessive 66, 610212 (3)	.	Respiratory disease, aspirin-exacerbated(CM131324)	GGT-AGT|Gly221Ser|c.661G>A|p.G221S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23180272&dopt=Abstract)	23180272|25601850|25557784|21042874|16385449|16278297|16244493|10601354|10574461	DEFENSE_RESPONSE;CELLULAR_DEFENSE_RESPONSE	.	.	.	.	.	.	PS1,PS3,BA1
L	6	24503590	rs2760118	C	T	222	PASS	ALDH5A1	aldehyde dehydrogenase 5 family, member A1	exonic	NM_001080,NM_170740	.	missense SNV	ALDH5A1:NM_001080:exon3:c.C538T:p.H180Y,ALDH5A1:NM_170740:exon3:c.C538T:p.H180Y	ENST00000491546.1,ENST00000348925.2,ENST00000357578.3,ENST00000546278.1	.	6p22.3	.	.	.	.	.	rs2760118	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116307.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.167774	0.1667	0.314696	0.3712	0.3195	0.1857	0.183001638591	0.177884600962	0.062,T	0.0,B	0.0,B	1,P	0.599274,N	0.6,N	-0.98,T	1.8122	-0.423	0.812	.	.	AC=9;AN=18;BQB=0.862128;DP4=108,85,88,59;DP=479;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.725029;SF=2,4,8,10,14,17,20,21,24;SGB=-0.686358;VDB=0.00475133	GT:DP:DV:PL	.	.	0/1:38:14:255,0,255	.	0/1:42:19:255,0,255	.	.	.	0/1:37:18:255,0,255	.	0/1:45:16:255,0,255	.	.	.	0/1:29:12:255,0,255	.	.	0/1:28:13:255,0,255	.	.	0/1:38:18:255,0,255	0/1:43:17:255,0,255	.	.	0/1:40:20:255,0,255	C	T	0	9	Succinic semialdehyde dehydrogenase deficiency, 271980 (3)	.	Impaired cognitive function, association with(CM083577)	CAC-TAC|His180Tyr|c.538C>T|p.H180Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18505418&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12208142&dopt=Abstract)	18505418|12208142|16542398|16240371|14635103|11544478|9683595|9059628|7814412	PROTEIN_OLIGOMERIZATION;LIPID_CATABOLIC_PROCESS;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_DERIVATIVE_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ELECTRON_TRANSPORT_GO_0006118;CELLULAR_COMPONENT_ASSEMBLY;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;CELLULAR_LIPID_CATABOLIC_PROCESS;PROTEIN_COMPLEX_ASSEMBLY;CELLULAR_LIPID_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;AMINE_METABOLIC_PROCESS;PROTEIN_HOMOOLIGOMERIZATION;AROMATIC_COMPOUND_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;CATABOLIC_PROCESS;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASMIC_PART;CYTOPLASM;CELL_FRACTION;MITOCHONDRION;SOLUBLE_FRACTION	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORSNAD_OR_NADP_AS_ACCEPTOR	KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM;KEGG_BUTANOATE_METABOLISM	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_GABA_SYNTHESIS_RELEASE_REUPTAKE_AND_DEGRADATION	PS1,PS3,BA1
L	6	26091336	rs2071303	T	C	222	PASS	HFE	hemochromatosis	splicing	NM_000410,NM_001300749,NM_139003,NM_139004,NM_139006,NM_139009	NM_000410:exon2:c.340+4T>C;NM_001300749:exon2:c.340+4T>C;NM_139003:exon2:c.340+4T>C;NM_139004:exon2:c.340+4T>C;NM_139006:exon2:c.340+4T>C;NM_139009:exon2:c.271+4T>C	.	.	ENST00000397022.3,ENST00000349999.4,ENST00000470149.1,ENST00000461397.1,ENST00000357618.5,ENST00000488199.1,ENST00000336625.8,ENST00000309234.6,ENST00000317896.7,ENST00000352392.4,ENST00000353147.5	.	6p22.2	.	.	.	.	.	rs2071303	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000117221.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.636213	0.629	0.426717	0.3458	0.3686	0.6788	0.610260411945	0.645432903846	.	.	.	.	.	.	.	.	-2.407	-3.202	.	.	AC=34;AN=48;BQB=0.423364;DP4=146,166,361,338;DP=1326;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.423364;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693147;VDB=0.890517	GT:DP:DV:PL	1/1:45:45:255,135,0	1/1:42:42:255,126,0	0/1:34:16:255,0,255	1/1:43:43:255,129,0	0/1:34:19:255,0,255	1/1:49:49:255,148,0	0/1:43:29:255,0,255	0/1:45:17:255,0,255	0/1:46:21:255,0,255	0/1:18:10:251,0,199	0/1:43:21:255,0,255	0/1:44:22:255,0,255	0/1:41:20:255,0,255	1/1:33:33:255,99,0	0/1:33:14:255,0,255	0/1:43:11:200,0,255	1/1:51:51:255,154,0	1/1:31:31:255,93,0	1/1:45:45:255,135,0	1/1:35:35:255,105,0	0/1:54:23:255,0,255	0/1:66:34:255,0,255	.	0/1:44:19:255,0,255	1/1:49:49:255,148,0	T	C	10	14	Hemochromatosis, 235200 (3); {Microvascular complications of diabetes 7}, 612635 (3); {Porphyria variegata, susceptibility to}, 176200 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3); {Alzheimer disease, susceptibility to}, 104300 (3); [Transferrin serum level QTL2], 614193 (3)	.	Haemochromatosis, association with(CS991415)	IVS2 ds T-C +4|c.340+4T>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10401000&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25262004&dopt=Abstract)	10401000|25262004|24442307|19700664|19084217|18566337|18504828|18499578|18199861|16879202|16123136|16043695|15965644|15347835|15280838|15098034|15070663|15060098|14729817|14673107|14618419|12949720|12915468|12737937|12436244|12429850|12241803|11904676|11812557|11532995|11423500|11358905|11336458|10610176|10610176|10557317|10545944|10431233|10431233|10401000|10382697|10381492|10194428|10085150|9851897|9585606|9546397|9482913|9482831|9465039|9462220|9439654|9371823|9356458|9341868|9326341|9321765|9211748|9162021|9138148|9122230|9106528|9054933|9054932|9024376|9020055|8931958|8896550|8896549|8838313|8696333|8490624|8304342|8304341|7624800|678784	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;DI___TRI_VALENT_INORGANIC_CATION_TRANSPORT;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;CELLULAR_COMPONENT_ASSEMBLY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;PROTEIN_COMPLEX_ASSEMBLY;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;RECEPTOR_MEDIATED_ENDOCYTOSIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PS1,PS3,BA1
L	6	29634012	rs3130253	A	G	227.52	PASS	MOG	myelin oligodendrocyte glycoprotein	exonic	NM_001008228,NM_001008229,NM_001170418,NM_002433,NM_206809,NM_206810,NM_206811,NM_206812,NM_206814	.	missense SNV	MOG:NM_001170418:exon2:c.A172G:p.I58V,MOG:NM_206814:exon2:c.A172G:p.I58V,MOG:NM_001008228:exon3:c.A520G:p.I174V,MOG:NM_001008229:exon3:c.A520G:p.I174V,MOG:NM_002433:exon3:c.A520G:p.I174V,MOG:NM_206809:exon3:c.A520G:p.I174V,MOG:NM_206810:exon3:c.A520G:p.I174V,MOG:NM_206811:exon3:c.A520G:p.I174V,MOG:NM_206812:exon3:c.A520G:p.I174V	ENST00000376902.3,ENST00000376888.2,ENST00000376894.4,ENST00000416766.2,ENST00000376891.4,ENST00000431798.2,ENST00000396701.2,ENST00000376917.3,ENST00000533330.2,ENST00000490427.1,ENST00000376898.3,ENST00000396704.3,ENST00000494692.1,ENST00000483013.1	.	6p22.1	.	.	.	.	.	rs3130253	.	.	0.996678	0.998	0.973243	0.9363	0.9498	0.9981	0.982388848392	0.995192399038	1.0,T	0.003,B	0.002,B	1,P	0.175589,N	-0.895,N	1.64,T	1.3655	0.066	-0.336	.	.	AC=50;AN=50;DP4=0,0,241,382;DP=798;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693127;VDB=0.000160307	GT:DP:DV:PL	1/1:33:33:255,99,0	1/1:25:25:255,75,0	1/1:12:12:255,36,0	1/1:23:23:255,69,0	1/1:22:22:255,66,0	1/1:39:39:255,117,0	1/1:25:25:255,75,0	1/1:20:20:255,60,0	1/1:30:30:255,90,0	1/1:21:21:255,63,0	1/1:30:30:255,90,0	1/1:27:27:255,81,0	1/1:15:15:243,45,0	1/1:23:23:255,69,0	1/1:22:22:255,66,0	1/1:23:23:255,69,0	1/1:29:29:255,87,0	1/1:22:22:255,66,0	1/1:30:30:255,90,0	1/1:23:23:255,69,0	1/1:26:26:255,78,0	1/1:26:26:255,78,0	1/1:12:12:255,36,0	1/1:40:40:255,120,0	1/1:25:25:255,75,0	A	G	25	0	?Narcolepsy 7, 614250 (3)	.	Multiple sclerosis, association with(CM088201)	GTC-ATC|Val174Ile|c.520G>A|p.V174I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17971048&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20800907&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23348723&dopt=Abstract)	17971048|20800907|23348723|21907016|8666381|8530032|8367453|7790876|7590972	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	.	.	.	.	.	PS1,PS3,BA1
L	6	29911240	rs9260156	T	A	221.87	PASS	HLA-A	major histocompatibility complex, class I, A	exonic	NM_001242758,NM_002116	.	stopgain	HLA-A:NM_001242758:exon3:c.T539A:p.L180X,HLA-A:NM_002116:exon3:c.T539A:p.L180X	ENST00000376809.5,ENST00000396634.1,ENST00000376802.2,ENST00000376806.5	CpG: 114	6p22.1	.	.	.	Score=0.907724;Name=chr6:29842024	.	rs9260156	.	.	0.5	0.4732	0.228634	.	0.2286	0.4428	0.366002817764	0.453125060096	.	.	.	4.37596e-10,P	0.020372,U	.	.	6.7832	-3.712	-12.713	1.201203,11.75	.	AC=31,3;AN=46;BQB=0.846436;DP4=319,298,1162,1128;DP=3708;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=3.55503e-09;MQSB=0.925334;RPB=0.971133;SF=0,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.102305	GT:DP:DV:PL	0/1:101:60:255,0,255,.,.,.	.	0/1:148:97:255,0,255,.,.,.	1/2:144:144:255,255,255,255,0,255	0/1:106:53:255,0,255,.,.,.	0/1:161:95:255,0,255,.,.,.	1/1:138:138:255,255,0,.,.,.	0/1:130:73:255,0,255,.,.,.	0/1:124:86:255,0,255,.,.,.	.	1/1:148:148:255,255,0,.,.,.	1/1:129:129:255,255,0,.,.,.	0/1:112:70:255,0,255,.,.,.	0/1:154:78:255,0,255,.,.,.	1/1:128:127:255,255,0,.,.,.	0/2:96:51:255,.,.,0,.,255	1/1:112:112:255,255,0,.,.,.	1/2:89:89:255,255,255,255,0,255	0/1:120:71:255,0,255,.,.,.	0/1:129:90:255,0,255,.,.,.	1/1:131:131:255,255,0,.,.,.	1/1:167:167:255,255,0,.,.,.	1/1:53:53:255,160,0,.,.,.	0/1:137:78:255,0,255,.,.,.	1/1:150:150:255,255,0,.,.,.	T	A,G	9	14	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	.	HLA-A null allele(CM1412095)	TTG-TAG|Leu180Term|c.539T>A|p.L180*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24571476&dopt=Abstract)	24571476|24977435|23789883|21833088|21428769|19158813|18004301|17909631|17258541|16538176|15994556|15744304|15528444|14278475|14177432|14060982|12734695|12186979|12042807|11914421|11904676|11567627|11226280|10823757|10073943|8812418|8437597|8363724|8026859|7851878|7063041|7017931|6951171|6851213|6792704|6650505|6585830|6461010|6452579|6401863|6312559|6312451|6284368|6179086|6115401|6060307|5822911|5822910|5795218|5773111|5675623|5461672|5447964|5409969|5281183|4955436|4887739|4876470|4831531|4760577|4668408|4435793|4362641|4230384|4208749|4182701|4139102|4130127|4120631|4120274|4117674|4116477|4113158|3743756|3513484|3412487|3315094|3137477|3056890|3029868|2987942|2784196|2497062|2000147|1916822|1786080|1743075|1602142|1322246|1190732|1145185|885534|844885|761421|734744|730170|730169|719335|278998|265561|118453|113876|104386|84721|61393|54197	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	PID_IL12_2PATHWAY;PID_CD8TCRPATHWAY;PID_AP1_PATHWAY;PID_CD8TCRDOWNSTREAMPATHWAY	BIOCARTA_CTL_PATHWAY;BIOCARTA_NKCELLS_PATHWAY	REACTOME_NEF_MEDIATED_DOWNREGULATION_OF_MHC_CLASS_I_COMPLEX_CELL_SURFACE_EXPRESSION;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_NEF_MEDIATES_DOWN_MODULATION_OF_CELL_SURFACE_RECEPTORS_BY_RECRUITING_THEM_TO_CLATHRIN_ADAPTERS;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_THE_ROLE_OF_NEF_IN_HIV1_REPLICATION_AND_DISEASE_PATHOGENESIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	29911240	rs9260156	T	G	221.87	PASS	HLA-A	major histocompatibility complex, class I, A	exonic	NM_001242758,NM_002116	.	missense SNV	HLA-A:NM_001242758:exon3:c.T539G:p.L180W,HLA-A:NM_002116:exon3:c.T539G:p.L180W	ENST00000376809.5,ENST00000396634.1,ENST00000376802.2,ENST00000376806.5	CpG: 114	6p22.1	.	.	.	Score=0.907724;Name=chr6:29842024	.	rs9260156	.	.	0.106312	0.12	0.232827	0.2731	0.2310	0.1079	0.0758038419602	0.100961320913	.	0.009,B	0.011,B	1,N	0.020372,N	-0.655,N	9.41,T	6.7832	-3.712	-12.713	.	.	AC=31,3;AN=46;BQB=0.846436;DP4=319,298,1162,1128;DP=3708;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=3.55503e-09;MQSB=0.925334;RPB=0.971133;SF=0,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.102305	GT:DP:DV:PL	0/1:101:60:255,0,255,.,.,.	.	0/1:148:97:255,0,255,.,.,.	1/2:144:144:255,255,255,255,0,255	0/1:106:53:255,0,255,.,.,.	0/1:161:95:255,0,255,.,.,.	1/1:138:138:255,255,0,.,.,.	0/1:130:73:255,0,255,.,.,.	0/1:124:86:255,0,255,.,.,.	.	1/1:148:148:255,255,0,.,.,.	1/1:129:129:255,255,0,.,.,.	0/1:112:70:255,0,255,.,.,.	0/1:154:78:255,0,255,.,.,.	1/1:128:127:255,255,0,.,.,.	0/2:96:51:255,.,.,0,.,255	1/1:112:112:255,255,0,.,.,.	1/2:89:89:255,255,255,255,0,255	0/1:120:71:255,0,255,.,.,.	0/1:129:90:255,0,255,.,.,.	1/1:131:131:255,255,0,.,.,.	1/1:167:167:255,255,0,.,.,.	1/1:53:53:255,160,0,.,.,.	0/1:137:78:255,0,255,.,.,.	1/1:150:150:255,255,0,.,.,.	T	A,G	9	14	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	.	HLA-A null allele(CM1412095)	TTG-TAG|Leu180Term|c.539T>A|p.L180*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24571476&dopt=Abstract)	24571476|24977435|23789883|21833088|21428769|19158813|18004301|17909631|17258541|16538176|15994556|15744304|15528444|14278475|14177432|14060982|12734695|12186979|12042807|11914421|11904676|11567627|11226280|10823757|10073943|8812418|8437597|8363724|8026859|7851878|7063041|7017931|6951171|6851213|6792704|6650505|6585830|6461010|6452579|6401863|6312559|6312451|6284368|6179086|6115401|6060307|5822911|5822910|5795218|5773111|5675623|5461672|5447964|5409969|5281183|4955436|4887739|4876470|4831531|4760577|4668408|4435793|4362641|4230384|4208749|4182701|4139102|4130127|4120631|4120274|4117674|4116477|4113158|3743756|3513484|3412487|3315094|3137477|3056890|3029868|2987942|2784196|2497062|2000147|1916822|1786080|1743075|1602142|1322246|1190732|1145185|885534|844885|761421|734744|730170|730169|719335|278998|265561|118453|113876|104386|84721|61393|54197	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	PID_IL12_2PATHWAY;PID_CD8TCRPATHWAY;PID_AP1_PATHWAY;PID_CD8TCRDOWNSTREAMPATHWAY	BIOCARTA_CTL_PATHWAY;BIOCARTA_NKCELLS_PATHWAY	REACTOME_NEF_MEDIATED_DOWNREGULATION_OF_MHC_CLASS_I_COMPLEX_CELL_SURFACE_EXPRESSION;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_NEF_MEDIATES_DOWN_MODULATION_OF_CELL_SURFACE_RECEPTORS_BY_RECRUITING_THEM_TO_CLATHRIN_ADAPTERS;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_THE_ROLE_OF_NEF_IN_HIV1_REPLICATION_AND_DISEASE_PATHOGENESIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	29911260	rs543623321	A	C	223.58	PASS	HLA-A	major histocompatibility complex, class I, A	exonic	NM_001242758,NM_002116	.	missense SNV	HLA-A:NM_001242758:exon3:c.A559C:p.T187P,HLA-A:NM_002116:exon3:c.A559C:p.T187P	ENST00000376809.5,ENST00000396634.1,ENST00000376802.2,ENST00000376806.5	CpG: 114	6p22.1	.	.	.	Score=0.907724;Name=chr6:29842024	.	rs543623321	.	.	0.368771	0.3185	0.206669	.	0.2187	0.2762	0.368771	0.330529076923	.	0.44,B	0.72,P	1,P	0.000017,U	2.24,M	5.7,T	2.4271	-3.009	-4.309	.	.	AC=24;AN=38;BQB=0.906781;DP4=441,347,659,743;DP=2728;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=4.17107e-07;MQSB=0.316142;RPB=0.0956745;SF=0,3,4,5,6,8,10,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.00288274	GT:DP:DV:PL	0/1:89:39:255,0,255	.	.	0/1:142:74:255,0,255	0/1:102:48:255,0,255	0/1:142:73:255,0,255	0/1:127:70:255,0,255	.	0/1:112:67:255,0,255	.	1/1:136:136:255,255,0	1/1:114:114:255,255,0	0/1:100:60:255,0,255	.	0/1:115:61:255,0,255	0/1:96:42:255,0,255	0/1:106:64:255,0,255	.	0/1:110:57:255,0,255	0/1:120:68:255,0,255	1/1:110:110:255,255,0	0/1:153:77:255,0,255	1/1:49:49:255,148,0	0/1:134:60:255,0,255	1/1:133:133:255,255,0	A	C	5	14	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	.	HLA-A low expression allele(CX127926)	CCTGGAT^186GGCacgtgCGTGGAGTGG Ins: gagtt|c.559_563delACGTGinsGAGTT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22489943&dopt=Abstract)	22489943|24977435|23789883|21833088|21428769|19158813|18004301|17909631|17258541|16538176|15994556|15744304|15528444|14278475|14177432|14060982|12734695|12186979|12042807|11914421|11904676|11567627|11226280|10823757|10073943|8812418|8437597|8363724|8026859|7851878|7063041|7017931|6951171|6851213|6792704|6650505|6585830|6461010|6452579|6401863|6312559|6312451|6284368|6179086|6115401|6060307|5822911|5822910|5795218|5773111|5675623|5461672|5447964|5409969|5281183|4955436|4887739|4876470|4831531|4760577|4668408|4435793|4362641|4230384|4208749|4182701|4139102|4130127|4120631|4120274|4117674|4116477|4113158|3743756|3513484|3412487|3315094|3137477|3056890|3029868|2987942|2784196|2497062|2000147|1916822|1786080|1743075|1602142|1322246|1190732|1145185|885534|844885|761421|734744|730170|730169|719335|278998|265561|118453|113876|104386|84721|61393|54197	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	PID_IL12_2PATHWAY;PID_CD8TCRPATHWAY;PID_AP1_PATHWAY;PID_CD8TCRDOWNSTREAMPATHWAY	BIOCARTA_CTL_PATHWAY;BIOCARTA_NKCELLS_PATHWAY	REACTOME_NEF_MEDIATED_DOWNREGULATION_OF_MHC_CLASS_I_COMPLEX_CELL_SURFACE_EXPRESSION;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_NEF_MEDIATES_DOWN_MODULATION_OF_CELL_SURFACE_RECEPTORS_BY_RECRUITING_THEM_TO_CLATHRIN_ADAPTERS;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_THE_ROLE_OF_NEF_IN_HIV1_REPLICATION_AND_DISEASE_PATHOGENESIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	29911261	.	C	G	223.58	PASS	HLA-A	major histocompatibility complex, class I, A	exonic	NM_001242758,NM_002116	.	missense SNV	HLA-A:NM_001242758:exon3:c.C560G:p.T187R,HLA-A:NM_002116:exon3:c.C560G:p.T187R	ENST00000376809.5,ENST00000396634.1,ENST00000376802.2,ENST00000376806.5	CpG: 114	6p22.1	.	.	.	Score=0.907724;Name=chr6:29842024	.	.	.	.	0.368771	0.3185	0.207468	.	0.2197	0.2794	0.368771	0.330529076923	.	0.039,B	0.017,B	1,P	0.000017,N	1.235,L	5.72,T	2.6157	-8.487	-13.082	.	.	AC=24;AN=38;BQB=0.882603;DP4=436,354,665,739;DP=2738;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=1.03768e-06;MQSB=0.450192;RPB=0.0883474;SF=0,3,4,5,6,8,10,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.693145;VDB=0.00164889	GT:DP:DV:PL	0/1:91:40:255,0,255	.	.	0/1:142:74:255,0,255	0/1:101:47:255,0,255	0/1:142:73:255,0,255	0/1:126:69:255,0,255	.	0/1:112:67:255,0,255	.	1/1:135:135:255,255,0	1/1:114:114:255,255,0	0/1:103:60:255,0,255	.	0/1:115:61:255,0,255	0/1:96:47:255,0,255	0/1:106:64:255,0,255	.	0/1:113:57:255,0,255	0/1:120:67:255,0,255	1/1:111:111:255,255,0	0/1:151:76:255,0,255	1/1:49:49:255,148,0	0/1:134:60:255,0,255	1/1:133:133:255,255,0	C	G	5	14	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)	.	HLA-A null allele(CD068503)	CTGGAT^186GGCAcGTGCGTGGAG|c.560delC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16451203&dopt=Abstract)	16451203|24977435|23789883|21833088|21428769|19158813|18004301|17909631|17258541|16538176|15994556|15744304|15528444|14278475|14177432|14060982|12734695|12186979|12042807|11914421|11904676|11567627|11226280|10823757|10073943|8812418|8437597|8363724|8026859|7851878|7063041|7017931|6951171|6851213|6792704|6650505|6585830|6461010|6452579|6401863|6312559|6312451|6284368|6179086|6115401|6060307|5822911|5822910|5795218|5773111|5675623|5461672|5447964|5409969|5281183|4955436|4887739|4876470|4831531|4760577|4668408|4435793|4362641|4230384|4208749|4182701|4139102|4130127|4120631|4120274|4117674|4116477|4113158|3743756|3513484|3412487|3315094|3137477|3056890|3029868|2987942|2784196|2497062|2000147|1916822|1786080|1743075|1602142|1322246|1190732|1145185|885534|844885|761421|734744|730170|730169|719335|278998|265561|118453|113876|104386|84721|61393|54197	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	PID_IL12_2PATHWAY;PID_CD8TCRPATHWAY;PID_AP1_PATHWAY;PID_CD8TCRDOWNSTREAMPATHWAY	BIOCARTA_CTL_PATHWAY;BIOCARTA_NKCELLS_PATHWAY	REACTOME_NEF_MEDIATED_DOWNREGULATION_OF_MHC_CLASS_I_COMPLEX_CELL_SURFACE_EXPRESSION;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_NEF_MEDIATES_DOWN_MODULATION_OF_CELL_SURFACE_RECEPTORS_BY_RECRUITING_THEM_TO_CLATHRIN_ADAPTERS;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_THE_ROLE_OF_NEF_IN_HIV1_REPLICATION_AND_DISEASE_PATHOGENESIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	31084435	rs1062470	G	A	224.75	PASS	CDSN	corneodesmosin	exonic	NM_001264	.	synonymous SNV	CDSN:NM_001264:exon2:c.C957T:p.Y319Y	ENST00000259881.9,ENST00000376288.2,ENST00000467107.1	.	6p21.33	.	.	.	.	.	rs1062470	.	.	0.578073	0.506	0.451078	0.3743	0.3694	0.5019	0.552067584992	0.546874826923	.	.	.	.	.	.	.	.	1.095	2.102	.	3.19	AC=35;AN=48;BQB=0.584509;DP4=187,144,571,376;DP=1667;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.669973;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.0474912	GT:DP:DV:PL	1/1:42:42:255,126,0	0/1:51:25:255,0,255	1/1:37:37:255,111,0	0/1:60:23:255,0,255	0/1:49:25:255,0,255	0/1:70:40:255,0,255	1/1:57:57:255,172,0	1/1:57:57:255,172,0	1/1:46:46:255,138,0	0/1:45:25:255,0,255	1/1:59:59:255,178,0	1/1:40:40:255,120,0	0/1:63:36:255,0,255	0/1:73:49:255,0,255	.	0/1:43:23:255,0,255	1/1:49:49:255,148,0	1/1:53:52:255,123,0	0/1:54:24:255,0,255	0/1:51:29:255,0,255	0/1:60:31:255,0,255	1/1:71:71:255,214,0	0/1:26:13:255,0,255	1/1:64:64:255,193,0	0/1:58:30:255,0,255	G	A	11	13	Hypotrichosis 2, 146520 (3); Peeling skin syndrome 1, 270300 (3)	.	Psoriasis, susceptibility, association with(CM045963)	TAC-TAT|Tyr319Tyr|c.957C>T|p.Y319Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15333584&dopt=Abstract)	15333584|23957618|22146835|21191406|20691404|18436651|15529278|15333584|12930300|12754508|11556968|10888604|10793007|10332047|9395522|8415725|3652491|2434123|1748816	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;CELL_CELL_ADHESION;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	6	31084787	rs707913	A	G	223.78	PASS	CDSN	corneodesmosin	exonic	NM_001264	.	missense SNV	CDSN:NM_001264:exon2:c.T605C:p.F202S	ENST00000259881.9,ENST00000376288.2,ENST00000467107.1	.	6p21.33	.	.	.	.	.	rs707913	.	.	0.392027	0.3403	0.28095	0.2656	0.2313	0.3101	0.317764163859	0.358173322115	0.549,T	.	.	1,P	0.353243,N	.	3.82,T	6.0849	0.413	2.135	.	.	AC=30;AN=46;BQB=0.62894;DP4=434,255,669,474;DP=2491;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.858931;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,23,24;SGB=-0.693147;VDB=0.135816	GT:DP:DV:PL	0/1:89:48:255,0,255	0/1:82:36:255,0,255	1/1:65:65:255,196,0	0/1:69:30:255,0,255	0/1:87:43:255,0,255	0/1:106:50:255,0,255	0/1:54:23:255,0,255	1/1:92:92:255,255,0	1/1:75:75:255,226,0	0/1:63:26:255,0,255	1/1:82:82:255,247,0	1/1:69:69:255,208,0	0/1:63:31:255,0,255	0/1:112:33:255,0,255	.	0/1:81:30:255,0,255	0/1:83:42:255,0,255	1/1:74:74:255,223,0	0/1:72:38:255,0,255	0/1:73:39:255,0,255	0/1:91:42:255,0,255	1/1:104:104:255,255,0	.	0/1:69:38:255,0,255	0/1:77:33:255,0,255	A	G	7	16	Hypotrichosis 2, 146520 (3); Peeling skin syndrome 1, 270300 (3)	.	Reduced protease sensitivity(CM113087)	TTT-TCT|Phe202Ser|c.605T>C|p.F202S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21307873&dopt=Abstract)	21307873|23957618|22146835|21191406|20691404|18436651|15529278|15333584|12930300|12754508|11556968|10888604|10793007|10332047|9395522|8415725|3652491|2434123|1748816	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;CELL_CELL_ADHESION;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	6	31324143	rs12697944	G	T	150.82	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	stopgain	HLA-B:NM_005514:exon3:c.C420A:p.Y140X	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs12697944	.	.	0.142857	0.121	0.096845	.	0.0698	0.1335	0.121745624809	0.133413454327	.	.	.	1,A	0.481455,U	.	.	1.2996	-0.425	-5.038	6.384232,29.5	.	AC=12;AN=24;BQB=0.808311;DP4=439,366,233,89;DP=1518;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=4.83548e-05;MQSB=0.612055;RPB=0.163598;SF=0,2,3,7,8,10,11,14,16,17,20,24;SGB=-0.688148;VDB=0.599934	GT:DP:DV:PL	0/1:57:15:170,0,255	.	0/1:120:32:212,0,255	0/1:63:18:217,0,255	.	.	.	0/1:116:30:242,0,255	0/1:116:30:204,0,255	.	0/1:79:45:255,0,255	0/1:80:40:255,0,255	.	.	0/1:100:20:91,0,255	.	0/1:105:22:78,0,255	0/1:77:15:124,0,255	.	.	0/1:73:15:120,0,255	.	.	.	0/1:141:40:255,0,255	G	T	0	12	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	HLA-B null allele(CM109670)	TAC-TAG|Tyr140Term|c.420C>G|p.Y140*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20518835&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24637876&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	20518835|24637876|25525159|24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	31324194	rs3179865	G	A	200.45	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	synonymous SNV	HLA-B:NM_005514:exon3:c.C369T:p.Y123Y	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs3179865	.	.	0.5	0.506	0.568291	.	0.2391	0.2559	0.402756361409	0.471153798077	.	.	.	.	.	.	.	.	-2.981	-2.417	.	.	AC=22;AN=36;BQB=0.934063;DP4=377,242,417,326;DP=1802;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=1.45632e-05;MQSB=0.996576;RPB=0.984311;SF=0,1,2,3,5,6,7,8,9,10,11,14,16,18,20,22,23,24;SGB=-0.690438;VDB=0.319005	GT:DP:DV:PL	0/1:40:17:252,0,255	0/1:59:15:166,0,255	0/1:101:43:255,0,255	0/1:57:28:255,0,255	.	1/1:110:110:255,255,0	0/1:74:32:255,0,255	0/1:75:39:255,0,255	0/1:88:37:255,0,255	0/1:35:6:76,0,255	1/1:64:64:255,193,0	1/1:71:71:255,214,0	.	.	0/1:89:23:209,0,255	.	0/1:88:36:255,0,255	.	0/1:82:40:255,0,255	.	1/1:67:67:255,202,0	.	0/1:32:10:168,0,255	0/1:128:59:255,0,255	0/1:102:46:255,0,255	G	A	4	14	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	HLA-B null allele(CM973306)	TAC-TAA|Tyr123Term|c.369C>A|p.Y123*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9349618&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	9349618|25525159|24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	31324895	rs1131156	G	C	222.58	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	missense SNV	HLA-B:NM_005514:exon1:c.C41G:p.S14W	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs1131156	.	.	0.42691	0.4514	0.561502	0.2476	0.2756	0.2792	0.353751678407	0.421874879808	0.296,T	0.0,B	0.0,B	1,P	0.350773,N	.	6.04,T	4.1314	0.737	-0.046	4.034460,23.7	.	AC=21;AN=38;BQB=0.640244;DP4=472,211,482,255;DP=1861;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.902857;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,16,17,20,23,24;SGB=-0.693136;VDB=0.411788	GT:DP:DV:PL	0/1:78:35:255,0,255	0/1:70:33:255,0,255	0/1:88:44:255,0,255	0/1:60:27:255,0,255	0/1:68:37:255,0,255	0/1:104:46:255,0,255	0/1:70:35:255,0,255	0/1:69:23:255,0,255	0/1:62:29:255,0,255	0/1:62:31:255,0,255	1/1:79:79:255,238,0	1/1:67:67:255,202,0	.	0/1:94:39:255,0,255	0/1:88:43:255,0,255	.	0/1:84:38:255,0,255	0/1:68:28:255,0,255	.	.	0/1:53:23:255,0,255	.	.	0/1:88:51:255,0,255	0/1:68:29:255,0,255	G	C	2	17	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	HLA-B null allele(CM023937)	TCG-TAG|Ser14Term|c.41C>A|p.S14*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12135439&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12445310&dopt=Abstract)	12135439|12445310|24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	31525912	rs3130062	C	T	228	PASS	NFKBIL1	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	exonic	NM_001144961,NM_001144962,NM_001144963,NM_005007	.	missense SNV	NFKBIL1:NM_001144961:exon4:c.C625T:p.R209C,NFKBIL1:NM_001144962:exon4:c.C601T:p.R201C,NFKBIL1:NM_001144963:exon4:c.C556T:p.R186C,NFKBIL1:NM_005007:exon4:c.C670T:p.R224C	ENST00000376145.4,ENST00000376148.4	.	6p21.33	.	.	.	.	.	rs3130062	.	.	1	1	0.982029	0.9484	0.9566	1	1.0	0.998798028846	0.182,T	0.0,B	0.0,B	1,P	0.076195,N	.	1.03,T	16.2789	-2.060	-1.204	.	.	AC=50;AN=50;DP4=0,0,555,280;DP=1056;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69168;VDB=0.481104	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:31:31:255,93,0	1/1:42:42:255,126,0	1/1:34:34:255,102,0	1/1:27:27:255,81,0	1/1:40:40:255,120,0	1/1:34:34:255,102,0	1/1:38:38:255,114,0	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:38:38:255,114,0	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:48:48:255,144,0	1/1:31:31:255,93,0	1/1:43:43:255,129,0	1/1:36:36:255,108,0	1/1:25:25:255,75,0	1/1:36:36:255,108,0	1/1:37:37:255,111,0	1/1:30:30:255,90,0	1/1:44:44:255,132,0	1/1:17:17:255,51,0	1/1:34:34:255,102,0	1/1:39:39:255,117,0	C	T	25	0	{Rheumatoid arthritis, susceptibility to}, 180300 (3)	.	Systemic lupus erythematosus, increased risk, association with(CM085066)	TGT-CGT|Cys224Arg|c.670T>C|p.C224R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18295675&dopt=Abstract)	18295675|12509789|11220632|10369924|8081366|8065305	NUCLEAR_IMPORT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;NEGATIVE_REGULATION_OF_TRANSPORT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;MAINTENANCE_OF_CELLULAR_LOCALIZATION;PROTEIN_IMPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;PROTEIN_IMPORT_INTO_NUCLEUS;MAINTENANCE_OF_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;MAINTENANCE_OF_CELLULAR_PROTEIN_LOCALIZATION;REGULATION_OF_INTRACELLULAR_TRANSPORT;CELLULAR_LOCALIZATION;REGULATION_OF_TRANSPORT;PROTEIN_TRANSPORT;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS;MAINTENANCE_OF_PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	.	.	.	.	.	.	PS1,PS3,BA1
L	6	31540784	rs1041981	C	A	221.65	PASS	LTA	lymphotoxin alpha	exonic	NM_000595,NM_001159740	.	missense SNV	LTA:NM_000595:exon3:c.C179A:p.T60N,LTA:NM_001159740:exon3:c.C179A:p.T60N	ENST00000418386.2,ENST00000454783.1	.	6p21.33	.	.	.	.	.	rs1041981	CLINSIG=other;CLNDBN=Myocardial_infarction;CLNACC=RCV000015455.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027051:22298006	.	0.5	0.4692	0.389577	0.3953	0.3496	0.4833	0.5	0.481971262019	0.29,T	0.022,B	0.019,B	0.863624,P	0.029886,N	2.015,M	2.42,T	5.2294	0.641	0.848	1.526797,13.46	3.15	AC=35;AN=46;BQB=0.624016;DP4=128,90,370,276;DP=1311;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.966731;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,22,23,24;SGB=-0.688148;VDB=0.00845982	GT:DP:DV:PL	0/1:34:15:255,0,255	1/1:34:34:255,102,0	1/1:47:47:255,141,0	0/1:36:21:255,0,255	0/1:36:18:255,0,255	0/1:89:41:255,0,255	1/1:23:23:255,69,0	1/1:45:45:255,135,0	1/1:23:23:255,69,0	0/1:20:7:222,0,255	1/1:23:23:255,69,0	1/1:22:22:255,66,0	1/1:32:32:255,96,0	0/1:49:23:255,0,255	0/1:35:17:255,0,255	1/1:25:25:255,75,0	0/1:37:18:255,0,255	.	0/1:23:12:209,0,215	0/1:29:15:255,0,255	1/1:30:30:255,90,0	.	0/1:30:13:254,0,255	1/1:79:79:255,238,0	1/1:63:63:255,190,0	C	A	12	11	{Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic arthritis, susceptibility to}, 607507 (3); {Leprosy, susceptibility to, 4}, 610988 (3)	.	Myocardial infarction, susceptibility, association(CM024124)	ACC-AAC|Thr60Asn|c.179C>A|p.T60N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12426569&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21919778&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24312346&dopt=Abstract)	12426569|21919778|24312346|24311691|17431181|17353895|15266304|15052269|14681301|14517552|12920609|12746914|12627232|12577057|12426569|12391242|6334807|3001529|2911734|2567059|1946393	CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;REGULATION_OF_DEVELOPMENTAL_PROCESS;CELL_CELL_SIGNALING;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_TYPE_I_DIABETES_MELLITUS	PID_IL4_2PATHWAY;PID_IL2_STAT5PATHWAY	BIOCARTA_CYTOKINE_PATHWAY;BIOCARTA_INFLAM_PATHWAY;BIOCARTA_STRESS_PATHWAY;BIOCARTA_TNFR2_PATHWAY	.	PS1,PS3,BA1
L	6	32006337	rs6464	C	A	216.92	PASS	CYP21A2	cytochrome P450, family 21, subfamily A, polypeptide 2	exonic	NM_000500,NM_001128590	.	synonymous SNV	CYP21A2:NM_000500:exon1:c.C138A:p.P46P,CYP21A2:NM_001128590:exon1:c.C138A:p.P46P	ENST00000435122.2,ENST00000418967.2	.	6p21.33	.	.	.	Score=0.992383;Name=chr6:31967263	.	rs6464	.	.	.	.	.	.	0.6636	0.6035	0.00568182	0.208696	.	.	.	.	.	.	.	.	0.323	0.385	1.456417,13.08	.	AC=34;AN=48;BQB=0.97213;DP4=482,281,709,497;DP=2960;HOB=0.5;ICB=1;MQ0F=0;MQ=38;MQB=0.939305;MQSB=0.00136211;RPB=0.599332;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.146098	GT:DP:DV:PL	0/1:73:39:255,0,255	0/1:93:14:123,0,255	0/1:88:42:255,0,255	1/1:71:71:255,214,0	1/1:41:41:255,123,0	1/1:97:97:255,255,0	0/1:87:43:255,0,255	0/1:89:45:255,0,255	0/1:104:65:255,0,255	0/1:82:20:238,0,255	1/1:55:55:255,166,0	1/1:60:60:255,181,0	0/1:74:38:255,0,255	0/1:164:37:228,0,255	.	0/1:71:40:255,0,255	1/1:41:41:255,123,0	1/1:32:32:255,96,0	0/1:52:21:255,0,255	0/1:100:51:255,0,255	1/1:68:68:255,205,0	1/1:99:99:255,255,0	1/1:43:42:255,109,0	0/1:170:102:255,0,255	0/1:115:43:255,0,255	C	A	10	14	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3); Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)	.	Adrenal hyperplasia(CI060691)	CCCGAC^45CTCCcCCATCTATCT|c.138dupC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16487445&dopt=Abstract)	16487445|18445671|18381579|18319307|17666484|17164306|16046588|15623806|14715874|14671187|14221486|12915679|12788880|12384784|12354783|12220458|12213891|12050257|11836313|11739456|11600539|11093272|10902803|10443693|10229037|9863599|9661649|9215318|9067760|8989258|8968761|8731325|8518786|8485582|8325964|8227333|8175971|8081391|7635470|7629224|7479886|7096533|6334310|5804199|3871526|3500473|3500410|3497399|3490178|3487786|3487654|3486422|3295546|3295543|3276177|3267225|3260033|3260007|3257825|3038528|3030300|3018042|3017844|2983330|2913051|2845408|2827462|2788081|2613228|2325662|2315306|2303461|2249999|2072928|1985465|1979956|1971153|1937474|1924294|1864962|1644925|1644925|1550121|1496017|1406709|1406699	.	.	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	6	32796685	rs241448	A	G	222.93	PASS	TAP2	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	exonic	NM_000544,NM_001290043	.	stoploss	TAP2:NM_001290043:exon12:c.T2059C:p.X687Q	ENST00000374899.4,ENST00000374897.2,ENST00000452392.2	.	6p21.32	.	.	.	.	.	rs241448	CLINSIG=Benign;CLNDBN=PEPTIDE_TRANSPORTER_PSF2_POLYMORPHISM;CLNACC=RCV000014729.2;CLNDSDB=.;CLNDSDBID=.	.	0.355482	0.3681	0.311102	0.1802	0.3494	0.4094	0.347626416539	0.358173165865	.	.	.	.	.	.	.	7.4208	-2.749	-0.990	.	.	AC=19;AN=28;BQB=0.973601;DP4=142,23,288,31;DP=669;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.758991;SF=0,2,3,5,8,9,10,11,12,15,16,17,20,21;SGB=-0.692067;VDB=0.448017	GT:DP:DV:PL	0/1:43:20:255,0,255	.	0/1:36:17:255,0,255	0/1:30:16:255,0,255	.	0/1:52:29:255,0,255	.	.	0/1:39:17:244,0,255	0/1:23:10:249,0,255	1/1:38:37:255,77,0	0/1:34:16:255,0,255	1/1:22:22:255,66,0	.	.	1/1:24:24:255,72,0	0/1:23:10:255,0,255	1/1:34:34:255,102,0	.	.	0/1:38:19:255,0,255	1/1:48:48:255,144,0	.	.	.	A	G	5	9	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3); Wegener-like granulomatosis (3)	.	Diabetes, type 1, association with(CM920660)	CAG-TAG|Gln687Term|c.2059C>T|p.Q687*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1570316&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17192492&dopt=Abstract)	1570316|17192492|11381133|10749979|10560675|7762558|7517574|1741401|1570316	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;ENDOPLASMIC_RETICULUM;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_LUMEN;ENDOPLASMIC_RETICULUM_PART	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ABC_TRANSPORTERS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	32796751	rs241447	T	C	224.14	PASS	TAP2	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	exonic	NM_000544,NM_001290043	.	missense SNV	TAP2:NM_001290043:exon12:c.A1993G:p.T665A	ENST00000374899.4,ENST00000374897.2,ENST00000452392.2	.	6p21.32	.	.	.	.	.	rs241447	CLINSIG=Benign;CLNDBN=PEPTIDE_TRANSPORTER_PSF2_POLYMORPHISM;CLNACC=RCV000014728.2;CLNDSDB=.;CLNDSDBID=.	.	0.357143	0.369	0.301717	0.1942	0.3633	0.4343	0.348392053599	0.359374995192	0.037,D	0.036,B	0.193,B	.	0.097551,N	1.925,L	-1.5,D	8.6055	0.456	4.372	.	3.38	AC=19;AN=28;BQB=0.897681;DP4=166,67,292,130;DP=898;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.448872;SF=0,2,3,5,8,9,10,11,12,15,16,17,20,21;SGB=-0.692976;VDB=0.236259	GT:DP:DV:PL	0/1:57:26:255,0,255	.	0/1:52:24:255,0,255	0/1:38:16:255,0,255	.	0/1:75:41:255,0,255	.	.	0/1:50:23:255,0,255	0/1:38:14:255,0,255	1/1:49:48:255,110,0	0/1:49:25:255,0,255	1/1:25:25:255,75,0	.	.	1/1:41:41:255,123,0	0/1:35:18:255,0,255	1/1:36:36:255,108,0	.	.	0/1:48:23:255,0,255	1/1:62:62:255,187,0	.	.	.	T	C	5	9	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3); Wegener-like granulomatosis (3)	.	Diabetes, type 1, association with(CM920659)	GCA-ACA|Ala665Thr|c.1993G>A|p.A665T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1570316&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17192492&dopt=Abstract)	1570316|17192492|11381133|10749979|10560675|7762558|7517574|1741401|1570316	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;ENDOPLASMIC_RETICULUM;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_LUMEN;ENDOPLASMIC_RETICULUM_PART	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ABC_TRANSPORTERS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	32797773	rs2228391	T	C	222.75	PASS	TAP2	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	exonic	NM_000544,NM_001290043,NM_018833	.	missense SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V,TAP2:NM_018833:exon10:c.A1729G:p.M577V	ENST00000374899.4,ENST00000374897.2,ENST00000452392.2	.	6p21.32	.	.	Score=852;Name=V$SREBP1_01	.	.	rs2228391	.	.	0.109635	0.0962	0.0301518	0.0008	0.0135	0.0914	0.0865239629403	0.0961541802885	0.233,T	0.03,B	0.008,B	.	0.420975,N	-0.655,N	-2.56,D	11.1148	-0.720	-1.036	.	.	AC=9;AN=16;BQB=0.974907;DP4=86,43,100,69;DP=404;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.429186;SF=2,3,5,8,10,12,20,21;SGB=-0.69168;VDB=0.166994	GT:DP:DV:PL	.	.	0/1:34:19:255,0,255	0/1:46:21:255,0,255	.	0/1:39:26:255,0,255	.	.	0/1:38:21:255,0,255	.	0/1:33:19:255,0,255	.	1/1:24:24:255,72,0	.	.	.	.	.	.	.	0/1:41:18:255,0,255	0/1:43:21:255,0,255	.	.	.	T	C	1	7	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3); Wegener-like granulomatosis (3)	.	Sjogren's syndrome, association with(CM971435)	ATG-GTG|Met577Val|c.1729A>G|p.M577V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9324024&dopt=Abstract)	9324024|11381133|10749979|10560675|7762558|7517574|1741401|1570316	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;ENDOPLASMIC_RETICULUM;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_LUMEN;ENDOPLASMIC_RETICULUM_PART	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ABC_TRANSPORTERS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	6	32811629	rs2071543	G	T	207.33	PASS	PSMB8	proteasome subunit beta 8	exonic	NM_148919	.	missense SNV	PSMB8:NM_148919:exon1:c.C145A:p.Q49K	ENST00000374881.2,ENST00000395339.3,ENST00000374882.3	CpG: 31	6p21.32	.	.	Score=854;Name=V$OLF1_01	.	.	rs2071543	.	IgA nephropathy	0.166113	0.1677	0.151957	0.1271	0.1453	0.1782	0.166113	0.158653757212	0.206,T	0.092,B	0.226,B	5.80318e-31,P	0.000108,D	2.64,M	1.16,T	15.5538	2.817	4.247	2.977548,22.2	5.64	AC=12;AN=24;BQB=1;DP4=207,33,202,25;DP=665;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.802346;SF=1,2,5,6,8,9,10,12,13,14,16,20;SGB=-0.688148;VDB=0.0431812	GT:DP:DV:PL	.	0/1:30:15:255,0,255	0/1:41:18:240,0,255	.	.	0/1:64:31:255,0,255	0/1:26:15:255,0,255	.	0/1:42:19:255,0,248	0/1:15:6:138,0,231	0/1:32:12:255,0,255	.	0/1:31:11:211,0,255	0/1:61:32:255,0,255	0/1:42:24:255,0,255	.	0/1:45:23:255,0,255	.	.	.	0/1:38:21:255,0,255	.	.	.	.	G	T	0	12	Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)	.	Juvenile rheumatoid arthritis, association with(CM014742)	AAG-CAG|Lys49Gln|c.145A>C|p.K49Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11669176&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22037870&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22037870&dopt=Abstract)	11669176|22037870|21953331|21881205|21852578|21129723|20534754|20159315|19525961|10926487|8495043|8066463|7847389|1922342	.	.	.	KEGG_PROTEASOME	.	.	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	PS1,PS3,BA1
L	6	33048640	rs1042140	A	G	223.38	PASS	HLA-DPB1	major histocompatibility complex, class II, DP beta 1	exonic	NM_002121	.	missense SNV	HLA-DPB1:NM_002121:exon2:c.A292G:p.K98E	ENST00000418931.2,ENST00000471184.1,ENST00000535465.1	CpG: 35	6p21.32	.	.	.	.	.	rs1042140	CLINSIG=other;CLNDBN=Beryllium_disease\x2c_chronic\x2c_susceptibility_to;CLNACC=RCV000016033.2;CLNDSDB=.;CLNDSDBID=.	.	0.436877	0.4206	0.315495	0.2329	0.2525	0.3759	0.362940289433	0.39903840625	0.291,T	0.002,B	0.0,B	1,P	0.000108,N	0.76,N	8.09,T	8.8377	-2.124	-3.373	.	.	AC=16;AN=26;BQB=0.230352;DP4=171,182,343,309;DP=1335;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.116974;SF=2,3,4,6,12,13,14,17,19,20,21,22,24;SGB=-0.693147;VDB=0.0319194	GT:DP:DV:PL	.	.	1/1:93:93:255,255,0	0/1:77:35:255,0,255	0/1:69:39:255,0,255	.	0/1:80:32:255,0,255	.	.	.	.	.	0/1:64:40:255,0,255	1/1:105:105:255,255,0	0/1:84:44:255,0,255	.	.	0/1:63:34:255,0,255	.	0/1:77:38:255,0,255	0/1:84:47:255,0,255	0/1:95:46:255,0,255	0/1:28:13:255,0,255	.	1/1:86:86:255,255,0	A	G	3	10	{Beryllium disease, chronic, susceptibility to} (3)	.	Beryllium disease, chronic, association with(CM930400)	AAG-GAG|Lys98Glu|c.292A>G|p.K98E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8105536&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14617029&dopt=Abstract)	8105536|14617029|24214983|19349983|19165231|16465617|14508706|12075003|11050177|8105536|7885043|6310612	MULTI_ORGANISM_PROCESS	.	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_TCR_SIGNALING;REACTOME_DOWNSTREAM_TCR_SIGNALING;REACTOME_PHOSPHORYLATION_OF_CD3_AND_TCR_ZETA_CHAINS;REACTOME_TRANSLOCATION_OF_ZAP_70_TO_IMMUNOLOGICAL_SYNAPSE;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_PD1_SIGNALING;REACTOME_COSTIMULATION_BY_THE_CD28_FAMILY;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	6	33152835	rs1799907	A	T	213.15	PASS	COL11A2	collagen, type XI, alpha 2	splicing	NM_080680,NM_080681	NM_080680:exon7:c.877-4T>A;NM_080681:exon6:c.799-4T>A	.	.	ENST00000374712.1,ENST00000374708.4,ENST00000374714.1,ENST00000395197.1,ENST00000341947.2,ENST00000374713.1,ENST00000361917.1,ENST00000357486.1	.	6p21.32	.	.	.	.	.	rs1799907	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000039840.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.260797	0.2431	0.322085	0.2974	0.3471	0.2077	0.234303205207	0.252403658654	.	.	.	.	.	.	.	.	0.116	0.639	0.921485,10.20	.	AC=17;AN=26;BQB=0.400421;DP4=92,44,174,94;DP=567;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.551431;SF=3,4,6,12,13,16,17,19,20,21,22,23,24;SGB=-0.693021;VDB=0.0182105	GT:DP:DV:PL	.	.	.	1/1:27:27:255,81,0	0/1:29:15:255,0,255	.	1/1:29:29:255,87,0	.	.	.	.	.	1/1:30:30:255,90,0	0/1:39:17:255,0,255	.	.	0/1:37:20:255,0,255	0/1:13:4:117,0,255	.	1/1:31:30:255,56,0	0/1:37:24:255,0,255	0/1:36:18:255,0,255	0/1:22:12:255,0,235	0/1:36:23:255,0,255	0/1:38:19:255,0,255	A	T	4	9	Stickler syndrome, type III, 184840 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Weissenbacher-Zweymuller syndrome, 277610 (3); Deafness, autosomal dominant 13, 601868 (3); Deafness, autosomal recessive 53, 609706 (3); Fibrochondrogenesis 2, 614524 (3)	.	Ossification, protection against, association with(CS015310)	IVS6 as T-A -4|c.877-4T>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11341341&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25342930&dopt=Abstract)	11341341|25342930|25633957|22246659|16637051|16609882|16033917|15558753|15372529|14234962|11289713|10677296|10581026|9805126|9506662|9188673|8838804|8486632|8431643|7859284|7833911|7559422|2760050|2591970|2321911|1906426	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	PS1,PS3,BA1
L	6	33272855	rs2071888	G	C	224.63	PASS	TAPBP	TAP binding protein (tapasin)	exonic	NM_003190,NM_172208,NM_172209	.	missense SNV	TAPBP:NM_172209:exon3:c.C518G:p.T173R,TAPBP:NM_003190:exon4:c.C779G:p.T260R,TAPBP:NM_172208:exon4:c.C779G:p.T260R	ENST00000426633.2,ENST00000434618.2,ENST00000456592.2,ENST00000489157.1,ENST00000475304.1	.	6p21.32	.	.	.	.	.	rs2071888	.	.	0.428571	0.4157	0.591254	0.6076	0.5682	0.3724	0.41271051608	0.419470795673	.	0.154,B	0.61,P	1,P	0.023008,N	.	1.6,T	13.3405	0.593	0.940	.	3.82	AC=23;AN=32;BQB=0.589805;DP4=189,72,517,175;DP=1196;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.432166;SF=2,3,4,5,8,9,11,12,16,17,18,19,20,21,22,24;SGB=-0.693127;VDB=0.423392	GT:DP:DV:PL	.	.	0/1:61:33:255,0,255	1/1:40:40:255,120,0	1/1:59:59:255,178,0	0/1:108:44:255,0,255	.	.	0/1:57:28:255,0,255	1/1:47:47:255,141,0	.	0/1:48:28:255,0,255	1/1:48:47:255,107,0	.	.	.	1/1:57:57:255,172,0	0/1:58:29:255,0,255	0/1:46:25:255,0,255	0/1:57:31:255,0,255	0/1:49:24:255,0,255	1/1:99:99:255,255,0	0/1:34:16:255,0,255	.	1/1:85:85:255,255,0	G	C	7	9	Bare lymphocyte syndrome, type I, 604571 (3)	.	Rheumatoid arthritis, juvenile, association with(CM056992)	ACA-AGA|Thr260Arg|c.779C>G|p.T260R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15743475&dopt=Abstract)	15743475|17116884|12149238|11920573|11862402|10799891|9521053|9271576|8769474	MACROMOLECULAR_COMPLEX_ASSEMBLY;PEPTIDE_METABOLIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;IMMUNE_RESPONSE;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS	ORGANELLE_PART;GOLGI_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;GOLGI_APPARATUS_PART;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANTIGEN_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;PEPTIDE_BINDING;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;RECEPTOR_BINDING;ATPASE_ACTIVITY;UNFOLDED_PROTEIN_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION	.	.	.	PS1,PS3,BA1
L	6	42666061	rs434102	T	C	220.8	PASS	PRPH2	peripherin 2 (retinal degeneration, slow)	exonic	NM_000322	.	missense SNV	PRPH2:NM_000322:exon3:c.A1013G:p.D338G	ENST00000230381.5	.	6p21.1	.	.	Score=844;Name=V$CREB_Q2	.	.	rs434102	CLINSIG=other|Benign;CLNDBN=not_provided|not_specified;CLNACC=RCV000127756.3|RCV000153779.3;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374	.	0.858804	0.8462	0.757388	0.7768	0.7790	0.8602	0.858804	0.846153723558	0.249,T	.	.	0.38174,P	0.008995,N	.	4.07,T	7.5998	0.901	1.262	.	4.28	AC=45;AN=50;BQB=0.869292;DP4=115,5,847,36;DP=1197;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.246298;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.00929866	GT:DP:DV:PL	1/1:32:32:255,96,0	1/1:32:32:255,96,0	0/1:43:25:207,0,173	1/1:31:31:255,93,0	1/1:35:35:255,105,0	1/1:69:69:255,208,0	0/1:36:14:202,0,255	1/1:48:48:255,144,0	1/1:44:44:255,132,0	1/1:25:25:227,75,0	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:41:41:255,123,0	1/1:35:35:255,105,0	1/1:29:29:255,87,0	1/1:47:47:255,141,0	1/1:36:36:255,108,0	1/1:32:32:255,96,0	1/1:35:35:255,105,0	1/1:40:40:255,120,0	1/1:42:42:255,126,0	0/1:83:44:255,0,252	0/1:22:11:234,0,192	0/1:58:28:255,0,255	1/1:55:55:255,166,0	T	C	20	5	Retinitis pigmentosa 7 and digenic, 608133 (3); Leber congenital amaurosis 18, 608133 (3); Macular dystrophy, patterned, 1, 169150 (3); Retinitis punctata albescens, 136880 (3); Choriodal dystrophy, central areolar 2, 613105 (3); Macular dystrophy, vitelliform, 3, 608161 (3)	.	Retinitis pigmentosa(CM130718)	GAC-GGC|Asp338Gly|c.1013A>G|p.D338G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23105016&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11485765&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9331261&dopt=Abstract)	23105016|11485765|9331261|25447119|25001182|24463884|23847139|22466463|19262438|19243827|19050038|16639027|15370544|15254014|14557183|12766040|12566026|11978760|11689482|11427722|11297544|11256068|10888879|9443872|9338584|9279751|9010868|8956033|8644804|8530028|8485576|8485575|8485574|8485572|8302543|8251014|8240110|8202715|8111389|8020945|8019570|7880786|7862413|7710395|7519821|7493155|4142662|2918924|2004788|1992463|1986774|1749427|1684223|1679750|705766|419532	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PS1,PS3,BA1
L	6	46672943	rs1051931	A	G	213.2	PASS	PLA2G7	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	exonic	NM_001168357,NM_005084	.	missense SNV	PLA2G7:NM_001168357:exon11:c.T1136C:p.V379A,PLA2G7:NM_005084:exon11:c.T1136C:p.V379A	ENST00000274793.7,ENST00000537365.1	.	6p12.3	.	.	.	.	.	rs1051931	CLINSIG=other|not provided;CLNDBN=Asthma_and_atopy\x2c_susceptibility_to|not_provided;CLNACC=RCV000008378.2|RCV000049574.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN221809	.	0.908638	0.9087	0.810304	0.7849	0.8033	0.8777	0.889739966309	0.885817411058	0.321,T	0.814,P	0.99,D	0.999975,P	0.029152,N	2.54,M	0.63,T	11.8741	2.247	6.862	3.996538,23.6	5.87	AC=42;AN=50;BQB=0.999762;DP4=75,11,306,47;DP=607;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.630683;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.038012	GT:DP:DV:PL	0/1:29:14:255,0,255	1/1:30:30:255,90,0	1/1:13:13:255,39,0	1/1:18:18:255,54,0	1/1:17:17:255,51,0	0/1:23:9:231,0,255	0/1:16:11:255,0,149	0/1:25:10:202,0,255	0/1:18:7:178,0,255	0/1:16:5:151,0,255	1/1:16:16:255,48,0	1/1:14:14:255,42,0	1/1:9:9:255,27,0	1/1:11:11:255,33,0	1/1:7:7:225,21,0	1/1:26:26:255,78,0	1/1:17:17:255,51,0	0/1:23:14:255,0,255	1/1:18:18:255,54,0	1/1:12:12:255,36,0	1/1:21:21:255,63,0	1/1:22:22:255,66,0	1/1:14:14:255,42,0	0/1:16:10:222,0,187	1/1:8:8:255,24,0	A	G	17	8	Platelet-activating factor acetylhydrolase deficiency, 614278 (3); {Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3)	.	Asthma and atopy, association with(CM001309)	GCA-GTA|Ala379Val|c.1136C>T|p.A379V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10733466&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12801611&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21880383&dopt=Abstract)	10733466|12801611|21880383|18806801|16787988|15115767|12149490|11036120|10733466|10333435|10194471|9700192|9412624|8913710|8675689|8675676|7700381|3198761|2348301	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	EXTRACELLULAR_REGION	LIPID_BINDING;PHOSPHOLIPID_BINDING	KEGG_ETHER_LIPID_METABOLISM	PID_LIS1PATHWAY	.	REACTOME_DIABETES_PATHWAYS;REACTOME_SYNTHESIS_SECRETION_AND_DEACYLATION_OF_GHRELIN	PS1,PS3,BA1
L	6	46677098	rs76863441	C	A	173.67	PASS	PLA2G7	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	exonic	NM_001168357,NM_005084	.	missense SNV	PLA2G7:NM_001168357:exon9:c.G835T:p.V279F,PLA2G7:NM_005084:exon9:c.G835T:p.V279F	ENST00000274793.7,ENST00000537365.1	.	6p12.3	.	.	.	.	.	rs76863441	CLINSIG=Pathogenic;CLNDBN=Platelet-activating_factor_acetylhydrolase_deficiency;CLNACC=RCV000008376.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1866472:614278	.	0.0614618	0.0823	0.0165735	.	0.0048	0.0640	0.0551301663093	0.0564903997596	0.007,D	0.997,D	1.0,D	2.90777e-05,P	0.000001,D	2.94,M	0.82,T	14.8953	1.516	2.778	6.851974,33	5.06	AC=4;AN=6;BQB=0.758709;DP4=17,3,32,6;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.562066;SF=18,19,20;SGB=-0.676189;VDB=0.844505	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:11:255,0,195	0/1:16:4:105,0,255	1/1:23:23:255,69,0	.	.	.	.	C	A	1	2	Platelet-activating factor acetylhydrolase deficiency, 614278 (3); {Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3)	.	PAF acetylhydrolase deficiency, association with(CM961468)	GTT-TTT|Val279Phe|c.835G>T|p.V279F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8675689&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20185515&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19034521&dopt=Abstract)	8675689|20185515|19034521|18806801|16787988|15115767|12149490|11036120|10733466|10333435|10194471|9700192|9412624|8913710|8675689|8675676|7700381|3198761|2348301	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	EXTRACELLULAR_REGION	LIPID_BINDING;PHOSPHOLIPID_BINDING	KEGG_ETHER_LIPID_METABOLISM	PID_LIS1PATHWAY	.	REACTOME_DIABETES_PATHWAYS;REACTOME_SYNTHESIS_SECRETION_AND_DEACYLATION_OF_GHRELIN	PS1,PS3,BA1
L	6	46679303	rs1805018	A	G	223.2	PASS	PLA2G7	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	exonic	NM_001168357,NM_005084	.	missense SNV	PLA2G7:NM_001168357:exon7:c.T593C:p.I198T,PLA2G7:NM_005084:exon7:c.T593C:p.I198T	ENST00000274793.7,ENST00000537365.1,ENST00000541026.1,ENST00000538237.1	.	6p12.3	.	.	.	.	.	rs1805018	CLINSIG=other;CLNDBN=Asthma_and_atopy\x2c_susceptibility_to;CLNACC=RCV000008377.2;CLNDSDB=.;CLNDSDBID=.	.	0.116279	0.129	0.133187	0.1060	0.0731	0.1030	0.101071953139	0.103365329327	0.559,T	0.001,B	0.0,B	1,P	0.538317,N	-0.135,N	0.74,T	8.1166	-0.911	-1.094	.	.	AC=6;AN=10;BQB=0.84697;DP4=32,40,51,34;DP=210;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.472367;SF=1,15,18,19,20;SGB=-0.690438;VDB=0.0110626	GT:DP:DV:PL	.	0/1:33:17:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:11:255,0,255	.	.	0/1:39:17:255,0,255	0/1:23:10:255,0,255	1/1:30:30:255,90,0	.	.	.	.	A	G	1	4	Platelet-activating factor acetylhydrolase deficiency, 614278 (3); {Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3)	.	Asthma and atopy, association with(CM001308)	ATA-ACA|Ile198Thr|c.593T>C|p.I198T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10733466&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18983494&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19034521&dopt=Abstract)	10733466|18983494|19034521|18806801|16787988|15115767|12149490|11036120|10733466|10333435|10194471|9700192|9412624|8913710|8675689|8675676|7700381|3198761|2348301	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	EXTRACELLULAR_REGION	LIPID_BINDING;PHOSPHOLIPID_BINDING	KEGG_ETHER_LIPID_METABOLISM	PID_LIS1PATHWAY	.	REACTOME_DIABETES_PATHWAYS;REACTOME_SYNTHESIS_SECRETION_AND_DEACYLATION_OF_GHRELIN	PS1,PS3,BA1
L	6	51824680	rs1266923	G	A	222.86	PASS	PKHD1	polycystic kidney and hepatic disease 1 (autosomal recessive)	exonic	NM_138694,NM_170724	.	synonymous SNV	PKHD1:NM_138694:exon36:c.C5896T:p.L1966L,PKHD1:NM_170724:exon36:c.C5896T:p.L1966L	ENST00000340994.4,ENST00000371117.3	.	6p12.2	.	.	.	.	.	rs1266923	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000082564.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.11794	0.1071	0.0814696	0.0462	0.0324	0.1079	0.107197477489	0.104567158654	.	.	.	.	.	.	.	.	1.261	3.722	.	4.61	AC=8;AN=14;BQB=0.228759;DP4=146,36,179,47;DP=583;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.611143;SF=1,3,4,6,14,19,20;SGB=-0.692976;VDB=0.0153715	GT:DP:DV:PL	.	0/1:59:26:255,0,255	.	0/1:63:33:255,0,255	0/1:69:35:255,0,255	.	0/1:64:34:255,0,255	.	.	.	.	.	.	.	0/1:46:18:255,0,255	.	.	.	.	0/1:45:18:255,0,255	1/1:62:62:255,187,0	.	.	.	.	G	A	1	6	Polycystic kidney and hepatic disease, 263200 (3)	.	Polycystic kidney disease(CI020613)	CCTCAAC^1965TTAaCTGCACATTA|c.5895dupA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11919560&dopt=Abstract)	11919560|21685914|21274727|20554582|19021639|17470460|16959974|16523049|16133180|15706593|15108281|15108277|15067314|14983006|12925574|12506140|11919560|11898128|11337358|11135065|7726165	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;CELL_CELL_ADHESION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS	CELL_PROJECTION_PART;INTRINSIC_TO_PLASMA_MEMBRANE;EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;CELL_SURFACE;MICROTUBULE_CYTOSKELETON;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ANCHORED_TO_MEMBRANE;CELL_PROJECTION;APICAL_PART_OF_CELL;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;APICAL_PLASMA_MEMBRANE;ANCHORED_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PS1,PS3,BA1
L	6	64498055	rs66462731	T	A	218.73	PASS	EYS	eyes shut homolog (Drosophila)	exonic	NM_001142800,NM_001292009	.	missense SNV	EYS:NM_001142800:exon39:c.A7666T:p.S2556C,EYS:NM_001292009:exon39:c.A7666T:p.S2556C	ENST00000486069.1,ENST00000370616.2,ENST00000370621.3,ENST00000503581.1	.	6q12	.	.	.	.	.	rs66462731	CLINSIG=Benign|Benign;CLNDBN=not_provided|not_specified;CLNACC=RCV000124944.1|RCV000153207.3;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374	.	0.124585	0.1518	0.0898562	0.0769	0.0777	0.1592	0.200284	0.144230925481	0.073,T	0.819,P	0.99,D	0.999936,P	0.253275,U	2.395,M	-1.17,T	5.4837	0.462	2.436	5.101547,25.3	2.92	AC=14;AN=22;BQB=0.41613;DP4=108,21,153,48;DP=482;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.945118;SF=1,3,6,8,10,11,16,17,19,20,23;SGB=-0.689466;VDB=0.197212	GT:DP:DV:PL	.	0/1:31:16:255,0,255	.	0/1:38:21:255,0,255	.	.	1/1:31:31:255,93,0	.	0/1:27:13:255,0,255	.	1/1:29:29:255,87,0	0/1:32:13:255,0,255	.	.	.	.	0/1:40:21:255,0,255	0/1:21:12:255,0,207	.	0/1:27:10:229,0,255	1/1:26:26:255,78,0	.	.	0/1:28:9:228,0,255	.	T	A	3	8	Retinitis pigmentosa 25, 602772 (3)	.	Retinitis pigmentosa, autosomal recessive(CD121682)	TAGGT^2554GGCTAcaGTGAATACAC|c.7665_7666delCA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22302105&dopt=Abstract)	22302105|18976725|18836446	.	.	.	.	.	.	.	PS1,PS3,BA1
L	6	75797302	rs970547	C	T	222.91	PASS	COL12A1	collagen, type XII, alpha 1	exonic	NM_004370,NM_080645	.	missense SNV	COL12A1:NM_080645:exon50:c.G5680A:p.G1894S,COL12A1:NM_004370:exon65:c.G9172A:p.G3058S	ENST00000483888.2,ENST00000345356.6,ENST00000416123.2,ENST00000322507.8	.	6q13	.	.	.	.	.	rs970547	.	.	0.687708	0.6796	0.711861	0.7447	0.7451	0.6653	0.675344875957	0.671875319712	0.0,D	0.999,D	1.0,D	6.77172e-06,P	0.000000,D	2.005,M	-2.08,D	19.5476	2.719	7.462	5.995459,27.8	5.75	AC=38;AN=46;BQB=0.949699;DP4=119,27,604,137;DP=1140;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.46977;SF=0,1,2,3,4,5,6,7,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693139;VDB=0.98682	GT:DP:DV:PL	1/1:36:36:255,108,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	0/1:40:15:194,0,255	0/1:38:19:255,0,255	1/1:57:57:255,172,0	1/1:33:33:255,99,0	1/1:42:42:255,126,0	.	0/1:29:14:255,0,237	0/1:45:25:255,0,255	1/1:39:39:255,117,0	0/1:25:14:247,0,238	.	1/1:35:35:255,105,0	0/1:39:19:255,0,255	1/1:39:39:255,117,0	0/1:36:19:255,0,244	1/1:45:45:255,135,0	1/1:35:35:255,105,0	1/1:40:39:255,60,0	1/1:62:62:255,187,0	1/1:23:23:255,69,0	1/1:45:45:255,135,0	0/1:36:18:255,0,255	C	T	15	8	?Ullrich congenital muscular dystrophy 2, 616470 (3); Bethlem myopathy 2, 616471 (3)	.	Lung cancer, susceptibility to, association with(CM067364)	GGC-AGC|Gly3058Ser|c.9172G>A|p.G3058S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16741161&dopt=Abstract)	16741161|24334769|24334604|21670218|9143499|3476925|1427837	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	PS1,PS3,BA1
L	6	129807629	rs2229848	C	T	196.6	PASS	LAMA2	laminin, alpha 2	exonic	NM_000426,NM_001079823	.	missense SNV	LAMA2:NM_001079823:exon55:c.C7748T:p.A2583V,LAMA2:NM_000426:exon56:c.C7760T:p.A2587V	ENST00000421865.2	.	6q22.33	.	.	Score=886;Name=V$HLF_01	.	.	rs2229848	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153440.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.621262	0.6369	0.583866	0.6386	0.6678	0.6090	0.588054869832	0.611778646635	0.056,T	0.965,D	0.998,D	7.1045e-07,P	0.000000,D	2.395,M	-1.2,T	19.9737	2.793	4.499	7.378110,34	5.6	AC=26;AN=40;BQB=0.966012;DP4=88,25,167,55;DP=486;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;MQSB=1;RPB=0.948864;SF=0,1,2,3,4,5,7,8,11,12,13,14,15,16,17,19,20,21,23,24;SGB=-0.636426;VDB=0.878485	GT:DP:DV:PL	0/1:14:7:171,0,171	0/1:17:11:255,0,179	0/1:16:7:208,0,248	0/1:20:11:255,0,216	0/1:10:5:124,0,156	0/1:24:16:255,0,213	.	1/1:14:14:255,42,0	0/1:26:13:255,0,255	.	.	1/1:15:15:255,45,0	0/1:11:4:118,0,213	1/1:15:15:255,45,0	0/1:13:5:159,0,255	1/1:18:18:255,54,0	0/1:22:13:255,0,241	0/1:17:10:248,0,215	.	1/1:15:15:255,45,0	0/1:15:9:244,0,184	0/1:14:6:226,0,220	.	0/1:21:10:255,0,255	1/1:18:18:255,54,0	C	T	6	14	Muscular dystrophy, congenital merosin-deficient, 607855 (3); Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)	.	Tuberculoid leprosy, association with(CM023406)	GTA-GCA|Val2587Ala|c.7760T>C|p.V2587A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12100448&dopt=Abstract)	12100448|18700894|18345011|16216942|15757977|15213105|12601554|12552556|11591858|11081637|11071490|10702665|9541105|9158149|8910357|8294519|8102757|7550355|2185464	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY;KEGG_VIRAL_MYOCARDITIS	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN4_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	BIOCARTA_AGR_PATHWAY	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	6	133015271	rs2272996	T	C	223.13	PASS	VNN1	vanin 1	exonic	NM_004666	.	missense SNV	VNN1:NM_004666:exon3:c.A392G:p.N131S	ENST00000367928.4	.	6q23.2	.	.	Score=783;Name=V$MEF2_01	.	.	rs2272996	.	.	0.348837	0.3621	0.265974	0.2430	0.2724	0.3947	0.351454629403	0.367788225962	0.034,D	0.976,D	0.996,D	0.0283525,P	0.000007,D	2.75,M	-2.04,D	16.6277	2.330	3.910	3.585073,23.2	6.07	AC=19;AN=32;BQB=0.803664;DP4=160,86,207,127;DP=822;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.905976;SF=1,2,7,8,10,11,12,14,16,17,18,19,20,22,23,24;SGB=-0.69168;VDB=0.385327	GT:DP:DV:PL	.	0/1:47:19:255,0,255	0/1:38:18:255,0,255	.	.	.	.	1/1:43:43:255,129,0	0/1:26:16:255,0,232	.	1/1:31:31:255,93,0	0/1:43:20:255,0,255	0/1:32:13:255,0,255	.	0/1:29:12:255,0,255	.	0/1:41:17:255,0,255	0/1:24:13:255,0,255	0/1:34:18:255,0,255	0/1:34:21:255,0,255	0/1:56:31:255,0,255	.	1/1:21:21:255,63,0	0/1:40:20:255,0,255	0/1:41:21:255,0,255	T	C	3	13	[High density lipoprotein cholesterol level QTL 8] (3)	.	Hypertension, association with(CM078800)	AAC-AGC|Asn131Ser|c.392A>G|p.N131S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18043751&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25233454&dopt=Abstract)	18043751|25233454|24140347|17873875|17163446|17145956|15282320|14966568|11491533|11042271|10888606|10567687|9790769|8934567	.	.	.	KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS	.	.	.	PS1,PS3,BA1
L	6	146755324	rs6923492	T	C	224	PASS	GRM1	glutamate receptor, metabotropic 1	exonic	NM_001278064	.	missense SNV	GRM1:NM_001278064:exon8:c.T2977C:p.S993P	ENST00000355289.4,ENST00000492807.2,ENST00000282753.1,ENST00000392299.2,ENST00000361719.2,ENST00000507907.1	.	6q24.3	.	.	.	.	.	rs6923492	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000117205.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.531561	0.5466	0.604034	0.5928	0.5311	0.5091	0.493874359877	0.524038175481	0.825,T	0.0,B	0.0,B	1,P	0.145675,N	-0.895,N	-2.36,D	8.5533	0.607	0.443	.	3.42	AC=24;AN=36;BQB=0.491131;DP4=189,202,356,410;DP=1498;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.827315;SF=0,1,4,6,8,9,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.69311;VDB=0.00857651	GT:DP:DV:PL	0/1:58:31:255,0,255	1/1:63:63:255,190,0	.	.	1/1:56:56:255,169,0	.	0/1:50:26:255,0,255	.	0/1:56:25:255,0,255	0/1:53:29:255,0,255	.	.	0/1:44:21:255,0,255	0/1:58:26:255,0,255	0/1:52:25:255,0,255	1/1:49:49:255,148,0	1/1:58:58:255,175,0	0/1:40:20:255,0,255	0/1:62:29:255,0,255	1/1:63:62:255,153,0	0/1:67:32:255,0,255	0/1:124:61:255,0,255	.	0/1:105:54:255,0,255	1/1:99:99:255,255,0	T	C	6	12	Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)	.	Autism spectrum disorder, increased risk(CM146151)	CCC-TCC|Pro993Ser|c.2977C>T|p.P993S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24442360&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25062106&dopt=Abstract)	24442360|25062106|24603153|22901947|17934773|17609672|16229975|14614461|14528310|12704387|11418862|11069170|11020218|10846166|10828618|10620645|9582347|9376535|9076744|7969468|7954803|7954802|7798903	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	GLUTAMATE_RECEPTOR_ACTIVITY;METABOTROPIC_GLUTAMATEGABA_B_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_LONG_TERM_DEPRESSION	.	BIOCARTA_CK1_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	6	152265522	rs1801132	G	C	224.21	PASS	ESR1	estrogen receptor 1	exonic	NM_000125,NM_001122740,NM_001122741,NM_001122742,NM_001291230,NM_001291241	.	synonymous SNV	ESR1:NM_000125:exon4:c.G975C:p.P325P,ESR1:NM_001122740:exon5:c.G975C:p.P325P,ESR1:NM_001122741:exon5:c.G975C:p.P325P,ESR1:NM_001291230:exon5:c.G981C:p.P327P,ESR1:NM_001291241:exon5:c.G972C:p.P324P,ESR1:NM_001122742:exon6:c.G975C:p.P325P	ENST00000440973.1,ENST00000456483.2,ENST00000443427.1,ENST00000482101.1,ENST00000427531.2,ENST00000206249.3,ENST00000338799.5,ENST00000406599.1	.	6q25.1	.	.	.	.	.	rs1801132	.	.	0.490033	0.498	0.717652	0.8144	0.7362	0.5101	0.525268038285	0.484374778846	.	.	.	8.11337e-16,P	.	.	.	2.1439	-0.415	-1.169	.	.	AC=26;AN=38;BQB=0.971711;DP4=246,163,473,362;DP=1626;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.894237;SF=0,1,3,4,5,7,8,9,11,13,14,15,16,17,18,19,20,21,22;SGB=-0.693147;VDB=0.124366	GT:DP:DV:PL	1/1:69:69:255,208,0	0/1:67:37:255,0,255	.	1/1:77:77:255,232,0	0/1:57:26:255,0,255	1/1:88:87:255,228,0	.	0/1:79:40:255,0,255	0/1:82:40:255,0,255	1/1:54:54:255,163,0	.	0/1:61:25:255,0,255	.	0/1:58:23:255,0,255	1/1:45:44:255,102,0	0/1:69:36:255,0,255	1/1:67:67:255,202,0	0/1:57:29:255,0,255	0/1:70:31:255,0,255	1/1:48:48:255,144,0	0/1:61:31:255,0,255	0/1:105:55:255,0,255	0/1:30:16:255,0,255	.	.	G	C	7	12	Estrogen resistance, 615363 (3); {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1)	.	Lower femoral neck BMD, association with(CM016108)	CCC-CCG|Pro325Pro|c.975C>G|p.P325P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11530279&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18450649&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18837889&dopt=Abstract)	11530279|18450649|18837889|26430118|26153859|24739975|24288332|24185512|24185510|24152274|23841731|22431513|22031296|21245576|21151129|19890323|19005469|18583976|18583967|18583966|18583965|18583964|18505767|18445777|18187655|17953702|17803905|17609204|17470805|17417639|17284595|17105837|16427018|16014638|15886699|15744038|15479929|15213208|15133719|15070949|14764789|14745006|14675539|14600184|14570715|12930901|12915669|12879058|12858169|12837697|12774124|12736255|12682286|12667452|12376702|12167865|12147702|12082175|11923541|11919305|11894143|11818702|11731608|11710886|11344243|11344236|11156045|11134151|11070087|11070086|11061546|11029009|11018265|10970861|10942433|10911988|10770491|10647739|10600740|10599725|10577642|10334989|10199781|9875847|9814476|9731704|9628887|9396482|9195227|8961262|8923465|8636345|8440747|8406468|8207012|8090165|7985022|7951326|7581411|3865204|3822834|3802924|3754034|3753802|3290686|3285482|3145193|2989691|2922054|2881267|2496855|2040605|2035527|1975791|1864980|1779964|1577818|1525064	SIGNAL_TRANSDUCTION	.	PROTEIN_N_TERMINUS_BINDING	.	PID_SMAD2_3NUCLEARPATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_LKB1_PATHWAY;PID_TELOMERASEPATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_FOXM1PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY;PID_HNF3APATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_MTA3_PATHWAY;BIOCARTA_HER2_PATHWAY	REACTOME_SIGNALING_BY_ERBB4;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
L	6	152420095	rs2228480	G	A	224.25	PASS	ESR1	estrogen receptor 1	exonic	NM_000125,NM_001122740,NM_001122741,NM_001122742,NM_001291230,NM_001291241	.	synonymous SNV	ESR1:NM_000125:exon8:c.G1782A:p.T594T,ESR1:NM_001122740:exon9:c.G1782A:p.T594T,ESR1:NM_001122741:exon9:c.G1782A:p.T594T,ESR1:NM_001291230:exon9:c.G1788A:p.T596T,ESR1:NM_001291241:exon9:c.G1779A:p.T593T,ESR1:NM_001122742:exon10:c.G1782A:p.T594T	ENST00000440973.1,ENST00000456483.2,ENST00000443427.1,ENST00000427531.2,ENST00000206249.3,ENST00000338799.5,ENST00000406599.1	.	6q25.1	.	.	.	.	.	rs2228480	.	.	0.212625	0.2014	0.188698	0.1720	0.1893	0.2116	0.212863799387	0.211538858173	.	.	.	.	.	.	.	.	-3.007	-0.369	.	.	AC=11;AN=16;BQB=0.993164;DP4=69,57,187,104;DP=563;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965189;SF=6,7,8,10,15,17,20,23;SGB=-0.691153;VDB=0.121643	GT:DP:DV:PL	.	.	.	.	.	.	0/1:48:18:255,0,255	0/1:57:26:255,0,255	0/1:47:18:255,0,255	.	1/1:60:60:255,181,0	.	.	.	.	1/1:45:45:255,135,0	.	0/1:46:28:255,0,255	.	.	0/1:43:25:255,0,255	.	.	1/1:71:71:255,214,0	.	G	A	3	5	Estrogen resistance, 615363 (3); {HDL response to hormone replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction, susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1)	.	Systemic lupus erythematosus, risk, association with(CM056948)	ACA-ACG|Thr594Thr|c.1782A>G|p.T594T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15934440&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19636371&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19860576&dopt=Abstract)	15934440|19636371|19860576|26430118|26153859|24739975|24288332|24185512|24185510|24152274|23841731|22431513|22031296|21245576|21151129|19890323|19005469|18583976|18583967|18583966|18583965|18583964|18505767|18445777|18187655|17953702|17803905|17609204|17470805|17417639|17284595|17105837|16427018|16014638|15886699|15744038|15479929|15213208|15133719|15070949|14764789|14745006|14675539|14600184|14570715|12930901|12915669|12879058|12858169|12837697|12774124|12736255|12682286|12667452|12376702|12167865|12147702|12082175|11923541|11919305|11894143|11818702|11731608|11710886|11344243|11344236|11156045|11134151|11070087|11070086|11061546|11029009|11018265|10970861|10942433|10911988|10770491|10647739|10600740|10599725|10577642|10334989|10199781|9875847|9814476|9731704|9628887|9396482|9195227|8961262|8923465|8636345|8440747|8406468|8207012|8090165|7985022|7951326|7581411|3865204|3822834|3802924|3754034|3753802|3290686|3285482|3145193|2989691|2922054|2881267|2496855|2040605|2035527|1975791|1864980|1779964|1577818|1525064	SIGNAL_TRANSDUCTION	.	PROTEIN_N_TERMINUS_BINDING	.	PID_SMAD2_3NUCLEARPATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_LKB1_PATHWAY;PID_TELOMERASEPATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_FOXM1PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY;PID_HNF3APATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_MTA3_PATHWAY;BIOCARTA_HER2_PATHWAY	REACTOME_SIGNALING_BY_ERBB4;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
H	6	161085295	rs1853021	A	G	205.24	PASS	LPA	lipoprotein, Lp(a)	splicing	NM_005577	.	.	.	ENST00000447678.1	.	6q26	.	.	.	.	.	rs1853021	.	.	.	.	.	0.7885	0.6452	0.4006	.	0.695652	.	.	.	.	.	.	.	.	-0.884	0.027	.	.	AC=47;AN=50;BQB=0.829029;DP4=9,10,143,135;DP=421;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.0497871;MQSB=0.405132;RPB=0.994805;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.339906	GT:DP:DV:PL	1/1:7:7:219,21,0	1/1:7:7:204,21,0	0/1:11:8:201,0,63	1/1:13:13:255,39,0	1/1:15:15:255,45,0	0/1:14:6:169,0,214	1/1:19:19:255,57,0	1/1:16:16:255,48,0	1/1:13:13:255,39,0	1/1:8:8:206,24,0	1/1:7:7:202,21,0	1/1:13:13:255,39,0	1/1:7:7:200,21,0	1/1:11:11:255,33,0	1/1:10:10:255,30,0	1/1:14:14:255,42,0	1/1:12:12:255,36,0	1/1:10:10:239,30,0	1/1:10:10:248,30,0	1/1:7:7:149,21,0	1/1:16:16:255,48,0	1/1:14:14:255,42,0	1/1:9:9:242,27,0	1/1:15:15:255,45,0	0/1:19:11:232,0,211	A	G	22	3	{Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3)	.	Decreased translation(CR952231)	GGGTGCGTTTACTCTCATGTAAGTCAACAA(C-T)GTCCTGGGATTGGGACACACTTTCTGGGCA -49 relative to initiation codon(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7749816&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17603063&dopt=Abstract)	7749816|17603063|20032323|18560444|16840570|16267501|15523644|14645638|14645635|14106010|11698280|11285247|10484779|9770530|9577282|9164807|9077546|8541836|8466495|8395942|8313620|8047165|7726859|7726858|7479743|7296818|7166304|6889478|6228142|3670400|3410459|2977749|2976021|2972066|2966760|2956279|2828221|2556454|2530631|2521477|2143582|2026424|1968792|1928089|1783400|1670844|1465128|1454851|1386087|1261074|885549|230000	SYSTEM_PROCESS	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	6	166579270	rs2305089	C	T	223.89	PASS	T	T brachyury transcription factor	exonic	NM_001270484,NM_003181	.	missense SNV	T:NM_001270484:exon4:c.G530A:p.G177D,T:NM_003181:exon4:c.G530A:p.G177D	ENST00000366871.3,ENST00000296946.2	.	6q27	.	.	Score=839;Name=V$PAX4_01	.	.	rs2305089	.	.	0.332226	0.3423	0.391773	0.4283	0.4745	0.3341	0.331546796325	0.338942442308	0.021,D	0.201,B	0.168,B	4.04286e-09,P	0.000012,D	1.13,L	-1.31,T	14.4316	1.059	5.499	2.823159,21.5	4.06	AC=25;AN=38;BQB=0.909914;DP4=237,99,422,153;DP=1252;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999946;SF=1,2,3,4,5,6,8,9,10,12,13,15,16,17,18,19,20,21,22;SGB=-0.692976;VDB=0.968296	GT:DP:DV:PL	.	0/1:48:26:255,0,255	1/1:47:47:255,141,0	1/1:39:39:255,117,0	0/1:39:18:255,0,255	0/1:67:32:255,0,255	0/1:49:27:255,0,255	.	1/1:49:49:255,148,0	0/1:39:14:255,0,255	0/1:58:27:255,0,255	.	0/1:51:22:255,0,255	1/1:51:51:255,154,0	.	0/1:46:15:255,0,255	0/1:43:18:255,0,255	0/1:48:23:255,0,255	0/1:48:24:255,0,255	1/1:55:55:255,166,0	1/1:42:42:255,126,0	0/1:69:32:255,0,255	0/1:23:14:255,0,210	.	.	C	T	6	13	{Neural tube defects, susceptibility to}, 182940 (3); Sacral agenesis with vertebral anomalies, 615709 (3)	.	Chordoma, increased risk(CM129921)	GGT-GAT|Gly177Asp|c.530G>A|p.G177D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23064415&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24990759&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9202145&dopt=Abstract)	23064415|24990759|9202145|24253444|23064415|19801981|15577911|15449172|15254540|12116228|10817656|10723731|10332959|10204846|8963900|8733136|6276757	SYSTEM_DEVELOPMENT;PATTERN_SPECIFICATION_PROCESS;REGIONALIZATION;TISSUE_DEVELOPMENT;MESODERM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EMBRYONIC_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	PID_BETACATENIN_NUC_PATHWAY;PID_DELTANP63PATHWAY	.	.	PS1,PS3,BA1
L	6	169635010	rs9406328	G	A	205.63	PASS	THBS2	thrombospondin 2	splicing	NM_003247	NM_003247:exon11:c.1478-8C>T	.	.	ENST00000366787.3,ENST00000444188.1	.	6q27	.	.	.	.	.	rs9406328	.	.	0.451827	0.4772	0.355631	0.3010	0.3684	0.5004	0.451827	0.438701795673	.	.	.	.	.	.	.	.	-0.562	0.180	.	.	AC=24;AN=38;BQB=0.802432;DP4=59,189,84,249;DP=707;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997286;SF=0,1,2,3,4,5,8,9,10,11,13,14,15,16,17,18,19,20,22;SGB=-0.616816;VDB=0.031576	GT:DP:DV:PL	0/1:22:6:114,0,255	0/1:33:16:255,0,255	0/1:35:15:255,0,255	0/1:43:24:255,0,255	0/1:36:16:231,0,245	0/1:57:26:255,0,255	.	.	1/1:28:28:255,84,0	1/1:24:24:255,72,0	0/1:29:16:255,0,238	0/1:24:13:255,0,234	.	0/1:33:19:255,0,255	0/1:30:13:255,0,255	0/1:38:15:236,0,255	1/1:16:16:255,48,0	0/1:18:8:199,0,196	1/1:24:24:255,72,0	0/1:32:14:255,0,255	1/1:33:33:255,99,0	.	0/1:26:7:156,0,255	.	.	G	A	5	14	{Lumbar disc herniation, susceptibility to}, 603932 (3)	.	Lumbar-disc herniation, association with(CS082000)	IVS10 as C-T -8|c.1478-8C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18455130&dopt=Abstract)	18455130|18455130|15707899|10611308|9442117|5276296|1924325|1559694|1459996	.	.	CARBOHYDRATE_BINDING;HEPARIN_BINDING;POLYSACCHARIDE_BINDING;PATTERN_BINDING;GLYCOSAMINOGLYCAN_BINDING	KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY	.	REACTOME_SIGNALING_BY_PDGF	PS1,PS3,BA1
L	7	6026384	rs111905775	C	T	65	PASS	PMS2	PMS1 homolog 2, mismatch repair system component	splicing	NM_000535	NM_000535:exon11:c.2006+6G>A	.	.	ENST00000406569.3,ENST00000441476.2,ENST00000469652.1,ENST00000265849.7,ENST00000382321.4	.	7p22.1	.	.	.	Score=0.990725;Name=chr7:6775275	.	rs111905775	CLINSIG=Benign|Benign|Benign;CLNDBN=Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000076839.2|RCV000079106.5|RCV000130905.1;CLNDSDB=MedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C1333990:ORPHA144:315058005|CN169374|C0027672:699346009	.	0.320598	0.3284	0.110423	0.0311	0.0818	0.3474	0.320598	0.317307783654	.	.	.	.	.	.	.	.	0.031	0.287	1.121411,11.33	.	AC=5;AN=10;BQB=1;DP4=15,0,20,1;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.9;MQSB=1;RPB=0.4;SF=0,3,4,18,20;SGB=-0.590765;VDB=0.0478623	GT:DP:DV:PL	0/1:7:5:113,0,48	.	.	0/1:7:5:113,0,48	0/1:5:3:71,0,43	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:3:66,0,133	.	0/1:7:5:131,0,48	.	.	.	.	C	T	0	5	Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)	.	Colorectal cancer, non-polyposis(CS144052)	IVS11 ds G-A +6|c.2006+6G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24710284&dopt=Abstract)	24710284|25691505|23709753|20205264|20186689|20186688|19293170|19132747|18824584|18768816|18178629|18030674|18007577|17785530|17557300|17253626|16873062|16507833|16472587|15887124|15256438|15198993|15077197|14756672|14574005|12601175|11793469|10822375|10763829|9488480|9096356|8666379|8586419|8128251|8072530|7892206|7661930|7632227|7628019|2047873	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;DNA_REPLICATION;DNA_DEPENDENT_DNA_REPLICATION;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	SINGLE_STRANDED_DNA_BINDING;PROTEIN_COMPLEX_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	KEGG_MISMATCH_REPAIR	PID_P53DOWNSTREAMPATHWAY	.	.	PS1,PS3,BA1
L	7	6026775	rs2228006	T	C	226.56	PASS	PMS2	PMS1 homolog 2, mismatch repair system component	exonic	NM_000535	.	missense SNV	PMS2:NM_000535:exon11:c.A1621G:p.K541E	ENST00000406569.3,ENST00000441476.2,ENST00000469652.1,ENST00000265849.7,ENST00000382321.4	.	7p22.1	.	.	.	Score=0.990725;Name=chr7:6775275	.	rs2228006	CLINSIG=Benign|Benign\x2cBenign;CLNDBN=Lynch_syndrome|not_provided\x2cnot_specified;CLNACC=RCV000030365.3|RCV000034619.2,RCV000121840.3;CLNDSDB=MedGen:Orphanet:SNOMED_CT|MedGen\x2cMedGen;CLNDSDBID=C1333990:ORPHA144:315058005|CN221809\x2cCN169374	.	0.878738	0.878	0.883187	0.8704	0.8514	0.9238	0.878738	0.890625295673	1.0,T	0.0,B	0.0,B	1,P	0.496690,N	-1.87,N	-1.94,D	10.5689	0.737	1.443	.	4.66	AC=44;AN=50;BQB=0.228541;DP4=174,68,1306,369;DP=2458;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=1;MQSB=1;RPB=0.0676538;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.184426	GT:DP:DV:PL	1/1:65:65:255,196,0	0/1:72:37:255,0,255	1/1:68:68:255,205,0	1/1:78:78:255,235,0	1/1:93:93:255,255,0	1/1:88:88:255,255,0	1/1:78:78:255,235,0	0/1:104:47:255,0,255	1/1:68:68:255,205,0	1/1:56:56:255,169,0	1/1:83:83:255,250,0	0/1:47:23:255,0,255	0/1:63:26:255,0,255	0/1:89:47:255,0,255	1/1:58:56:255,137,0	1/1:88:88:255,255,0	1/1:69:69:255,208,0	1/1:61:61:255,184,0	1/1:85:84:255,219,0	1/1:104:104:255,255,0	1/1:92:92:255,255,0	1/1:117:117:255,255,0	1/1:40:40:255,120,0	0/1:86:42:255,0,255	1/1:65:65:255,196,0	T	C	19	6	Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)	.	Colorectal cancer, non-polyposis(BM1497492)	GAA-AAA|Lys541Glu|c.1621G>A|p.E541K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24072394&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24689082&dopt=Abstract)	24072394|24728327|24689082|25691505|23709753|20205264|20186689|20186688|19293170|19132747|18824584|18768816|18178629|18030674|18007577|17785530|17557300|17253626|16873062|16507833|16472587|15887124|15256438|15198993|15077197|14756672|14574005|12601175|11793469|10822375|10763829|9488480|9096356|8666379|8586419|8128251|8072530|7892206|7661930|7632227|7628019|2047873	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;DNA_REPLICATION;DNA_DEPENDENT_DNA_REPLICATION;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	SINGLE_STRANDED_DNA_BINDING;PROTEIN_COMPLEX_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	KEGG_MISMATCH_REPAIR	PID_P53DOWNSTREAMPATHWAY	.	.	PS1,PS3,BA1
L	7	6036980	rs1805319	G	C	219.72	PASS	PMS2	PMS1 homolog 2, mismatch repair system component	exonic	NM_000535	.	synonymous SNV	PMS2:NM_000535:exon7:c.C780G:p.S260S	ENST00000406569.3,ENST00000441476.2,ENST00000469652.1,ENST00000265849.7,ENST00000382321.4	.	7p22.1	.	.	.	.	.	rs1805319	CLINSIG=Benign\x2cBenign|Benign|Benign;CLNDBN=Hereditary_cancer-predisposing_syndrome\x2cLynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000162392.1,RCV000030372.3|RCV000079112.5|RCV000131484.2;CLNDSDB=MedGen:SNOMED_CT\x2cMedGen:Orphanet:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009\x2cC1333990:ORPHA144:315058005|CN169374|C0027672:699346009	.	0.880399	0.879	0.83127	0.8238	0.8109	0.9219	0.905053554364	0.885817545673	.	.	.	.	.	.	.	.	-5.634	-2.695	.	.	AC=44;AN=50;BQB=0.651439;DP4=61,8,332,86;DP=709;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.988166;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.72439	GT:DP:DV:PL	1/1:18:18:255,54,0	0/1:20:8:238,0,255	1/1:14:14:255,42,0	1/1:22:22:255,66,0	1/1:22:22:255,66,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	0/1:27:11:255,0,255	1/1:16:16:255,48,0	1/1:15:15:255,45,0	1/1:19:19:255,57,0	0/1:11:7:215,0,99	0/1:14:9:240,0,137	0/1:17:6:160,0,255	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:19:19:255,57,0	1/1:18:18:255,54,0	1/1:20:20:255,60,0	1/1:21:21:255,63,0	1/1:19:19:255,57,0	1/1:24:24:255,72,0	1/1:14:14:255,42,0	0/1:33:12:255,0,255	1/1:26:26:255,78,0	G	C	19	6	Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)	.	Colorectal cancer, non-polyposis(CD136761)	TGAGC^259TGTTCcGATGCTCTGC|c.780delC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23709753&dopt=Abstract)	23709753|25691505|23709753|20205264|20186689|20186688|19293170|19132747|18824584|18768816|18178629|18030674|18007577|17785530|17557300|17253626|16873062|16507833|16472587|15887124|15256438|15198993|15077197|14756672|14574005|12601175|11793469|10822375|10763829|9488480|9096356|8666379|8586419|8128251|8072530|7892206|7661930|7632227|7628019|2047873	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;DNA_REPLICATION;DNA_DEPENDENT_DNA_REPLICATION;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	SINGLE_STRANDED_DNA_BINDING;PROTEIN_COMPLEX_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	KEGG_MISMATCH_REPAIR	PID_P53DOWNSTREAMPATHWAY	.	.	PS1,PS3,BA1
L	7	27135314	rs10951154	C	T	228	PASS	HOXA1	homeobox A1	exonic	NM_005522,NM_153620	.	missense SNV	HOXA1:NM_005522:exon1:c.G218A:p.R73H,HOXA1:NM_153620:exon1:c.G218A:p.R73H	ENST00000355633.5,ENST00000343060.4,ENST00000495032.1	.	7p15.2	.	.	.	.	Score=249;Name="4272909:(TGG)n(Simple_repeat)"	rs10951154	.	.	0.993355	0.994	0.780751	0.7304	0.7660	0.9220	0.97320043951	0.9867784375	0.886,T	0.0,B	0.0,B	1,P	0.823224,N	.	1.56,T	4.9074	0.320	1.331	1.690066,14.35	2.53	AC=50;AN=50;BQB=1;DP4=1,1,1731,927;DP=3654;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.28573	GT:DP:DV:PL	1/1:92:92:255,255,0	1/1:97:97:255,255,0	1/1:111:111:255,255,0	1/1:113:113:255,255,0	1/1:117:117:255,255,0	1/1:141:141:255,255,0	1/1:99:99:255,255,0	1/1:135:134:255,255,0	1/1:95:95:255,255,0	1/1:86:86:255,255,0	1/1:120:120:255,255,0	1/1:96:96:255,255,0	1/1:94:94:255,255,0	1/1:143:143:255,255,0	1/1:120:120:255,255,0	1/1:96:96:255,255,0	1/1:122:122:255,255,0	1/1:88:88:255,255,0	1/1:99:99:255,255,0	1/1:124:124:255,255,0	1/1:118:118:255,255,0	1/1:124:124:255,255,0	1/1:32:32:255,96,0	1/1:120:120:255,255,0	1/1:78:77:255,216,0	C	T	25	0	Bosley-Salih-Alorainy syndrome, 601536 (3); Athabaskan brainstem dysgenesis syndrome, 601536 (3)	.	Autism spectrum disorder, association with(CM005531)	CAC-CGC|His73Arg|c.218A>G|p.H73R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11091361&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19018953&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14960295&dopt=Abstract)	11091361|19018953|14960295|25414315|21940751|18412118|16528738|16155570|15973411|11528388|11091361|8646877|8287791|7622051|1680563	MULTICELLULAR_ORGANISMAL_DEVELOPMENT	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	7	34818113	rs324981	A	T	206.52	PASS	NPSR1	neuropeptide S receptor 1	exonic	NM_001300933,NM_001300935,NM_207172,NM_207173	.	missense SNV	NPSR1:NM_001300933:exon3:c.A287T:p.N96I,NPSR1:NM_001300935:exon3:c.A320T:p.N107I,NPSR1:NM_207172:exon3:c.A320T:p.N107I,NPSR1:NM_207173:exon3:c.A320T:p.N107I	ENST00000360581.1,ENST00000359791.1,ENST00000381553.3,ENST00000381539.3,ENST00000381542.1,ENST00000531252.1	.	7p14.3	.	.	Score=858;Name=V$FOXJ2_02	.	.	rs324981	CLINSIG=other;CLNDBN=ASTHMA-RELATED_TRAITS\x2c_SUSCEPTIBILITY_TO\x2c_2;CLNACC=RCV000002276.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837811:608584	.	0.518272	0.5288	0.467452	0.4897	0.4465	0.5304	0.541347675345	0.520432396635	1.0,T	0.0,B	0.0,B	1,P	0.000009,N	-2.495,N	-0.55,T	8.6008	0.895	2.994	.	5.14	AC=27;AN=42;BQB=0.817544;DP4=102,50,193,76;DP=595;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.85106;SF=0,1,2,3,4,5,6,7,8,9,12,13,14,15,16,17,18,19,20,21,24;SGB=-0.636426;VDB=0.274147	GT:DP:DV:PL	0/1:23:7:173,0,255	1/1:21:21:255,63,0	0/1:16:10:225,0,192	0/1:23:12:255,0,255	0/1:21:11:252,0,255	1/1:18:18:255,54,0	0/1:27:11:255,0,255	0/1:24:11:255,0,255	0/1:19:9:205,0,255	0/1:18:11:255,0,184	.	.	0/1:13:9:253,0,99	1/1:17:17:255,51,0	0/1:20:10:255,0,255	0/1:25:11:255,0,255	1/1:20:20:255,60,0	0/1:12:6:196,0,182	1/1:21:21:255,63,0	1/1:23:23:255,69,0	0/1:15:9:233,0,180	0/1:27:17:255,0,236	.	.	0/1:18:5:146,0,255	A	T	6	15	{Asthma, susceptibility to, 2}, 608584 (3)	.	Panic disorder, in males, association with(CM073245)	AAT-ATT|Asn107Ile|c.320A>T|p.N107I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17669576&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22216302&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16790440&dopt=Abstract)	17669576|22216302|16790440|18305139|18285428|15312648|15073379|11326283	.	.	.	.	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	7	34874038	rs727162	C	G	217.12	PASS	NPSR1	neuropeptide S receptor 1	exonic	NM_001300933,NM_001300934,NM_001300935,NM_207172,NM_207173	.	missense SNV	NPSR1:NM_001300934:exon4:c.C525G:p.S175R,NPSR1:NM_001300933:exon6:c.C690G:p.S230R,NPSR1:NM_001300935:exon6:c.C723G:p.S241R,NPSR1:NM_207172:exon6:c.C723G:p.S241R,NPSR1:NM_207173:exon6:c.C723G:p.S241R	ENST00000360581.1,ENST00000359791.1,ENST00000381539.3,ENST00000381542.1,ENST00000531252.1	.	7p14.3	.	.	Score=863;Name=V$IRF1_01	.	.	rs727162	.	.	0.360465	0.3512	0.317692	0.2300	0.2777	0.3245	0.343032105666	0.348557524038	0.012,D	0.974,D	0.999,D	0.00234221,P	0.000142,D	1.475,L	1.22,T	10.1436	2.456	1.414	4.477457,24.2	4.75	AC=22;AN=34;BQB=0.821696;DP4=188,58,337,118;DP=991;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.916418;SF=0,1,2,4,5,8,9,11,14,15,16,17,18,19,20,22,24;SGB=-0.693144;VDB=0.106645	GT:DP:DV:PL	1/1:39:39:255,117,0	1/1:53:53:255,160,0	0/1:46:24:255,0,255	.	0/1:39:20:255,0,255	0/1:52:26:255,0,255	.	.	0/1:40:17:255,0,255	0/1:30:17:255,0,255	.	1/1:57:57:255,172,0	.	.	1/1:28:28:255,84,0	0/1:35:15:255,0,255	0/1:48:25:255,0,255	0/1:29:14:255,0,255	1/1:40:40:255,120,0	0/1:41:20:255,0,255	0/1:58:28:255,0,255	.	0/1:15:5:143,0,255	.	0/1:51:27:255,0,255	C	G	5	12	{Asthma, susceptibility to, 2}, 608584 (3)	.	Reduced signalling(CM1110386)	AGC-AGG|Ser241Arg|c.723C>G|p.S241R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22216302&dopt=Abstract)	22216302|18305139|18285428|15312648|15073379|11326283	.	.	.	.	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	7	42005678	rs929387	G	A	222.59	PASS	GLI3	GLI family zinc finger 3	exonic	NM_000168	.	missense SNV	GLI3:NM_000168:exon15:c.C2993T:p.P998L	ENST00000395925.3,ENST00000479210.1	CpG: 105	7p14.1	.	.	.	.	.	rs929387	.	.	0.77907	0.7688	0.421526	0.2564	0.4558	0.8137	0.78101058193	0.781250300481	0.422,T	0.001,B	0.001,B	0.0841409,P	0.005158,N	-0.445,N	2.44,T	5.4162	0.733	4.759	.	3.83	AC=38;AN=44;BQB=0.782784;DP4=64,61,400,369;DP=1075;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.273758;SF=0,1,2,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,24;SGB=-0.693079;VDB=0.558189	GT:DP:DV:PL	1/1:29:29:255,87,0	1/1:39:39:255,117,0	1/1:46:46:255,138,0	0/1:34:14:255,0,255	1/1:36:36:255,108,0	0/1:72:42:255,0,255	.	0/1:24:8:173,0,255	1/1:45:45:255,135,0	1/1:22:22:255,66,0	1/1:43:43:255,129,0	1/1:44:44:255,132,0	0/1:34:15:255,0,255	1/1:48:48:255,144,0	1/1:41:41:255,123,0	0/1:40:19:255,0,255	1/1:28:28:255,84,0	1/1:26:26:255,78,0	1/1:38:38:255,114,0	.	0/1:39:20:255,0,255	1/1:96:96:255,255,0	1/1:23:23:255,69,0	.	1/1:47:47:255,141,0	G	A	16	6	Greig cephalopolysyndactyly syndrome, 175700 (3); Pallister-Hall syndrome, 146510 (3); Polydactyly, preaxial, type IV, 174700 (3); Polydactyly, postaxial, types A1 and B, 174200 (3); {Hypothalamic hamartomas, somatic}, 241800 (3)	.	Talipes equinovarus, congential idiopathic, association with(CM068412)	CTG-CCG|Leu998Pro|c.2993T>C|p.L998P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17029207&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22984994&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24278334&dopt=Abstract)	17029207|22984994|24278334|24736735|23239739|22428873|20672375|20583172|20570969|18435847|18397875|18252217|18000979|16740916|16371461|16098019|16015334|15811011|15739154|12794692|12545275|12414818|12215652|12198547|12079285|12045142|11978771|11504863|10945658|10693759|10678662|10441570|10441342|10077605|9405711|9402960|9323126|9302279|9054938|9042919|8979460|8001967|6641002|3239571|2850480|2118997|1879832|1650914	NUCLEAR_IMPORT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_IMPORT;PROTEIN_IMPORT_INTO_NUCLEUS;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	CYTOPLASM;NUCLEUS	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_HEDGEHOG_GLIPATHWAY	BIOCARTA_SHH_PATHWAY	.	PS1,PS3,BA1
L	7	43810764	rs699512	G	A	219.91	PASS	BLVRA	biliverdin reductase A	exonic	NM_000712,NM_001253823	.	missense SNV	BLVRA:NM_000712:exon2:c.G7A:p.A3T,BLVRA:NM_001253823:exon3:c.G7A:p.A3T	ENST00000265523.4,ENST00000402924.1	.	7p13	.	.	.	.	.	rs699512	.	.	0.679402	0.6825	0.821086	0.8200	0.8011	0.6939	0.680704346095	0.664663478365	0.542,T	0.0,B	0.0,B	1,P	0.780983,N	-0.345,N	1.92,T	7.6037	0.068	-0.547	.	.	AC=40;AN=46;BQB=0.221735;DP4=87,11,487,86;DP=916;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.897248;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.680642;VDB=0.464301	GT:DP:DV:PL	0/1:30:12:222,0,255	.	1/1:23:23:255,69,0	1/1:20:20:255,60,0	1/1:25:25:255,75,0	1/1:44:44:255,132,0	1/1:38:38:255,114,0	1/1:31:31:255,93,0	1/1:32:32:255,96,0	1/1:22:22:255,66,0	0/1:38:14:223,0,255	1/1:23:23:255,69,0	1/1:31:31:255,93,0	1/1:34:34:255,102,0	0/1:26:12:255,0,255	0/1:35:20:255,0,255	1/1:31:31:255,93,0	0/1:18:8:203,0,206	.	1/1:35:35:255,105,0	1/1:34:34:255,102,0	1/1:24:24:255,72,0	1/1:18:18:255,54,0	1/1:30:30:255,90,0	0/1:29:12:222,0,255	G	A	17	6	Hyperbiliverdinemia, 614156 (3)	.	Essential hypertension, reduced risk, association with(CM1111303)	ACA-GCA|Thr3Ala|c.7A>G|p.T3A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21721974&dopt=Abstract)	21721974|21278388|19580635|18463290|15870194|14694903|12456881|8950184|8631357|6838484|6585176|2793182	COFACTOR_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;CELLULAR_CATABOLIC_PROCESS;COFACTOR_CATABOLIC_PROCESS;ELECTRON_TRANSPORT_GO_0006118;SECONDARY_METABOLIC_PROCESS;PIGMENT_METABOLIC_PROCESS;HETEROCYCLE_METABOLIC_PROCESS;CATABOLIC_PROCESS;HEME_METABOLIC_PROCESS	.	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS	KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM	.	BIOCARTA_IL10_PATHWAY	REACTOME_METABOLISM_OF_PORPHYRINS	PS1,PS3,BA1
L	7	45104131	rs11552377	G	A	222	PASS	CCM2	cerebral cavernous malformation 2	exonic	NM_001029835,NM_001167934,NM_001167935,NM_031443	.	missense SNV	CCM2:NM_001167934:exon3:c.G184A:p.V62I,CCM2:NM_001029835:exon4:c.G421A:p.V141I,CCM2:NM_001167935:exon4:c.G358A:p.V120I,CCM2:NM_031443:exon4:c.G358A:p.V120I	ENST00000475551.1,ENST00000541586.1,ENST00000381112.3,ENST00000258781.6,ENST00000474617.1,ENST00000544363.1,ENST00000461377.1	.	7p13	.	.	Score=805;Name=V$ER_Q6	.	.	rs11552377	.	.	0.104651	0.1091	0.108027	0.1352	0.1461	0.0884	0.0972434214395	0.0973556598558	0.767,T	0.099,B	0.699,P	0.999185,P	0.001340,N	1.3,L	0.59,T	9.6734	1.244	2.278	1.495931,13.29	3.15	AC=3;AN=6;BQB=0.725353;DP4=49,9,39,11;DP=139;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.82553;SF=4,13,20;SGB=-0.686358;VDB=0.444984	GT:DP:DV:PL	.	.	.	.	0/1:33:14:255,0,255	.	.	.	.	.	.	.	.	0/1:34:15:255,0,255	.	.	.	.	.	.	0/1:41:21:255,0,255	.	.	.	.	G	A	0	3	Cerebral cavernous malformations-2, 603284 (3)	.	Phenotype modifier, association with(CM105503)	GTC-ATC|Val120Ile|c.358G>A|p.V120I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20419355&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23485406&dopt=Abstract)	20419355|23485406|21859843|21543988|20181950|19318350|19151727|19088124|19088123|18469344|18060436|17657516|17211633|17160895|16037064|14740320|14634666|14624391|9811928	SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;PROTEIN_KINASE_CASCADE;VASCULATURE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;MAPKKK_CASCADE_GO_0000165;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_PATHWAY	CYTOPLASM	.	.	PID_P38_MKK3_6PATHWAY;PID_P38ALPHABETAPATHWAY	.	.	PS1,PS3,BA1
L	7	55229255	rs2227983	G	A	224.16	PASS	EGFR	epidermal growth factor receptor	exonic	NM_005228,NM_201282,NM_201284	.	missense SNV	EGFR:NM_005228:exon13:c.G1562A:p.R521K,EGFR:NM_201282:exon13:c.G1562A:p.R521K,EGFR:NM_201284:exon13:c.G1562A:p.R521K	ENST00000342916.3,ENST00000275493.2,ENST00000442591.1,ENST00000344576.2,ENST00000454757.2,ENST00000455089.1	.	7p11.2	.	.	.	.	.	rs2227983	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120690.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.488372	0.5238	0.292133	0.2027	0.2870	0.5359	0.501531301685	0.498798021635	0.605,T	0.001,B	0.0,B	1,P	0.821201,N	0.23,N	1.63,T	2.4933	-1.106	-0.792	.	.	AC=26;AN=38;BQB=0.981713;DP4=352,96,628,164;DP=1775;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.337023;SF=0,1,3,5,7,8,10,11,12,13,14,16,17,18,19,20,21,22,23;SGB=-0.693147;VDB=0.37578	GT:DP:DV:PL	1/1:62:62:255,187,0	1/1:60:60:255,181,0	.	0/1:72:33:255,0,255	.	0/1:71:40:255,0,255	.	0/1:108:44:255,0,255	0/1:63:33:255,0,255	.	0/1:74:32:255,0,255	1/1:55:55:255,166,0	0/1:60:19:255,0,255	1/1:79:79:255,238,0	0/1:72:33:255,0,255	.	0/1:80:30:255,0,255	1/1:45:45:255,135,0	0/1:59:28:255,0,255	1/1:67:67:255,202,0	0/1:69:31:255,0,255	1/1:68:68:255,205,0	0/1:26:13:255,0,255	0/1:50:20:255,0,255	.	G	A	7	12	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3); Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3); {Nonsmall cell lung cancer, susceptibility to}, 211980 (3); ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)	.	Altered transmembrane signaling(CM942312)	AGG-AAG|Arg521Lys|c.1562G>A|p.R521K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7937865&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18664296&dopt=Abstract)	7937865|24728327|18664296|25629630|24691054|24390343|23917401|23636329|22270724|22056988|21946538|21516087|21430781|20929848|20844536|20519437|20473307|20208517|20033049|19692684|19692680|19597153|18596266|18492751|18227510|18093943|18060032|18046415|17940036|17463250|17429853|16778986|16777603|16329133|16273093|16260720|16258541|16210539|16041383|16014883|15901872|15851741|15728811|15590694|15567848|15456762|15371587|15329413|15284455|15118125|15118073|12919676|12879076|12714603|11929848|11875501|11752569|11423618|11161793|11099046|11090353|10943841|10700187|9781061|8918811|8702388|6968072|6328312|6327062|6323162|6322166|6320011|6297856|6289330|6265789|6254014|3759084|3380099|3329716|2991750	POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;REGULATION_OF_HYDROLASE_ACTIVITY;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;G_PROTEIN_SIGNALING_COUPLED_TO_IP3_SECOND_MESSENGERPHOSPHOLIPASE_C_ACTIVATING;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;PHOSPHOLIPASE_C_ACTIVATION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_MIGRATION;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CALCIUM_MEDIATED_SIGNALING;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;REGULATION_OF_PHOSPHORYLATION;CELLULAR_BIOSYNTHETIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PHOSPHOINOSITIDE_MEDIATED_SIGNALING;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;EPIDERMAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;BIOPOLYMER_MODIFICATION;REGULATION_OF_MAP_KINASE_ACTIVITY;CELL_CELL_ADHESION;REGULATION_OF_CATALYTIC_ACTIVITY;PEPTIDYL_TYROSINE_PHOSPHORYLATION;PROTEIN_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;PEPTIDYL_AMINO_ACID_MODIFICATION;CELL_PROLIFERATION_GO_0008283;PEPTIDYL_TYROSINE_MODIFICATION;POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELL_MIGRATION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;NITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PHOSPHORYLATION;PROTEIN_LOCALIZATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;CELL_MIGRATION;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;CYTOPLASMIC_VESICLE_MEMBRANE;COATED_VESICLE;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;VESICLE_COAT;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;NUCLEUS;ORGANELLE_MEMBRANE;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;CYTOPLASMIC_VESICLE_PART;ENDOMEMBRANE_SYSTEM;ENDOSOME;CLATHRIN_COATED_VESICLE;COATED_VESICLE_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_COAT;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;COATED_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;VESICLE_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;ACTIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;ACTIN_FILAMENT_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_GAP_JUNCTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA;KEGG_BLADDER_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_PTP1BPATHWAY;PID_ARF6_PATHWAY;PID_TCPTP_PATHWAY;PID_TXA2PATHWAY;PID_SHP2_PATHWAY;PID_TELOMERASEPATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_AJDISS_2PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_ECADHERIN_KERATINOCYTE_PATHWAY;PID_ERBB_NETWORK_PATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_SYNDECAN_3_PATHWAY	BIOCARTA_AGR_PATHWAY;BIOCARTA_AT1R_PATHWAY;BIOCARTA_CBL_PATHWAY;BIOCARTA_EGF_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_KERATINOCYTE_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_CARDIACEGF_PATHWAY;BIOCARTA_HER2_PATHWAY;BIOCARTA_SPRY_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_TFF_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_CONSTITUTIVELY_ACTIVE_EGFR;REACTOME_GRB2_EVENTS_IN_ERBB2_SIGNALING;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_EGFR_DOWNREGULATION;REACTOME_GAB1_SIGNALOSOME;REACTOME_SHC1_EVENTS_IN_EGFR_SIGNALING;REACTOME_SIGNALING_BY_GPCR;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_SIGNAL_TRANSDUCTION_BY_L1	PS1,PS3,BA1
L	7	75615006	rs1057868	C	T	222.8	PASS	POR	P450 (cytochrome) oxidoreductase	exonic	NM_000941	.	missense SNV	POR:NM_000941:exon13:c.C1508T:p.A503V	ENST00000439269.1,ENST00000461988.1,ENST00000419840.1,ENST00000450476.1,ENST00000545601.1,ENST00000394893.1	.	7q11.23	.	.	.	.	.	rs1057868	.	.	0.36711	0.374	0.286142	0.2367	0.3639	0.4472	0.378254330781	0.387019375	0.179,T	0.0,B	0.001,B	1,P	0.002907,N	1.195,L	-1.64,D	8.3965	1.188	0.907	.	3.51	AC=17;AN=30;BQB=0.976049;DP4=264,129,389,157;DP=1279;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999976;SF=2,3,5,6,10,11,12,13,15,16,18,19,20,22,24;SGB=-0.693127;VDB=0.424231	GT:DP:DV:PL	.	.	0/1:63:33:255,0,255	0/1:47:26:255,0,255	.	0/1:119:59:255,0,255	0/1:41:23:255,0,255	.	.	.	0/1:72:34:255,0,255	0/1:51:27:255,0,255	0/1:69:31:255,0,255	1/1:65:65:255,196,0	.	0/1:39:23:255,0,255	0/1:45:17:255,0,255	.	0/1:49:21:255,0,255	0/1:70:37:255,0,255	0/1:69:35:255,0,255	.	0/1:49:24:255,0,255	.	1/1:91:91:255,255,0	C	T	2	13	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3); Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)	.	Altered enzyme activity(CM057356)	GCC-GTC|Ala503Val|c.1508C>T|p.A503V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16467261&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18551037&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20697309&dopt=Abstract)	16467261|18551037|20697309|18559916|16470797|15793702|15483095|15220035|14758361|14513299|12917333|12917333|12116245|11742006|10633130|9360545|3702935|2932643|2516426	GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118	CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH	.	.	.	.	PS1,PS3,BA1
L	7	82453708	rs2522833	A	C	208.04	PASS	PCLO	piccolo presynaptic cytomatrix protein	exonic	NM_014510,NM_033026	.	missense SNV	PCLO:NM_014510:exon19:c.T14440G:p.S4814A,PCLO:NM_033026:exon19:c.T14440G:p.S4814A	ENST00000426442.2,ENST00000423517.2,ENST00000333891.9	.	7q21.11	.	.	.	.	.	rs2522833	.	.	0.674419	0.6865	0.402556	0.3187	0.4431	0.6992	0.692955869832	0.677885033654	0.317,T	0.118,B	0.013,B	0.00602562,P	.	-0.235,N	1.01,T	15.9926	2.179	5.108	2.638050,20.4	5.72	AC=36;AN=48;BQB=0.909135;DP4=53,91,126,204;DP=621;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.520252;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.686358;VDB=0.263262	GT:DP:DV:PL	0/1:30:14:255,0,255	0/1:22:9:228,0,255	1/1:10:10:255,30,0	0/1:18:7:162,0,244	0/1:22:11:255,0,255	0/1:23:8:244,0,255	0/1:23:12:255,0,219	1/1:18:18:255,54,0	1/1:30:30:255,90,0	1/1:12:12:255,36,0	1/1:20:20:255,60,0	1/1:18:18:255,54,0	1/1:15:15:255,45,0	0/1:18:5:170,0,255	1/1:17:17:255,51,0	0/1:22:12:246,0,233	1/1:13:13:255,39,0	0/1:16:13:255,0,49	0/1:17:7:206,0,237	1/1:16:16:255,48,0	0/1:25:8:194,0,255	0/1:21:7:188,0,255	.	1/1:22:22:255,66,0	1/1:26:26:255,78,0	A	C	12	12	?Pontocerebellar hypoplasia, type 3, 608027 (3)	.	Major depressive disorder, association with(CM0911482)	TCT-GCT|Ser4814Ala|c.14440T>G|p.S4814A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19065144&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24278217&dopt=Abstract)	19065144|24278217|25832664|12771259|12401793|10707984|9628581	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	SYNAPSE	LIPID_BINDING;CATION_BINDING;CALCIUM_ION_BINDING;PHOSPHOLIPID_BINDING;ION_BINDING	.	.	.	.	PS1,PS3,BA1
L	7	87079406	rs2109505	T	A	222.5	PASS	ABCB4	ATP-binding cassette, sub-family B (MDR/TAP), member 4	exonic	NM_000443,NM_018849,NM_018850	.	synonymous SNV	ABCB4:NM_000443:exon8:c.A711T:p.I237I,ABCB4:NM_018849:exon8:c.A711T:p.I237I,ABCB4:NM_018850:exon8:c.A711T:p.I237I	ENST00000265723.4,ENST00000358400.3,ENST00000453593.1,ENST00000545634.1,ENST00000359206.3	.	7q21.12	.	.	.	.	.	rs2109505	.	.	0.260797	0.2708	0.261382	0.2249	0.2101	0.2739	0.263399535988	0.2512016875	.	.	.	.	.	.	.	.	0.013	-0.095	2.292981,18.12	.	AC=13;AN=24;BQB=0.404622;DP4=148,121,165,157;DP=796;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.730281;SF=1,4,6,10,11,14,15,19,20,21,23,24;SGB=-0.692914;VDB=0.483864	GT:DP:DV:PL	.	0/1:53:25:255,0,255	.	.	0/1:46:22:255,0,255	.	0/1:36:23:255,0,255	.	.	.	0/1:57:31:255,0,255	0/1:42:23:255,0,255	.	.	0/1:41:17:255,0,255	1/1:49:49:255,148,0	.	.	.	0/1:50:23:255,0,255	0/1:51:27:255,0,255	0/1:65:29:255,0,255	.	0/1:57:36:255,0,255	0/1:44:17:255,0,255	T	A	1	11	Cholestasis, progressive familial intrahepatic 3, 602347 (3); Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3); Gallbladder disease 1, 600803 (3)	.	Intrahepatic cholestasis of pregnancy, association(CM031116)	ATA-ATT|Ile237Ile|c.711A>T|p.I237I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12746424&dopt=Abstract)	12746424|21989363|19584064|19213920|18482588|17726488|15329734|11313316|10767346|9923886|9419367|8666348|8106172|7912658|3459187|2892668|2886574|2002063|1676410|990323	ESTABLISHMENT_OF_LOCALIZATION;LIPID_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_ABC_TRANSPORTERS	.	BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PS1,PS3,BA1
L	7	87138645	rs1045642	A	G	223.62	PASS	ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	exonic	NM_000927	.	synonymous SNV	ABCB1:NM_000927:exon27:c.T3435C:p.I1145I	ENST00000265724.3,ENST00000488737.2,ENST00000543898.1	.	7q21.12	.	.	.	.	.	rs1045642	.	.	0.63289	0.6022	0.604832	0.5767	0.5034	0.6245	0.609494667688	0.626201754808	.	.	.	.	.	.	.	.	-1.747	-1.754	.	.	AC=30;AN=42;BQB=0.241165;DP4=223,84,539,202;DP=1402;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.347136;SF=0,1,2,4,5,6,8,9,10,11,12,14,15,16,17,19,20,21,22,23,24;SGB=-0.693079;VDB=0.0342669	GT:DP:DV:PL	0/1:48:29:255,0,255	1/1:46:46:255,138,0	0/1:44:22:255,0,255	.	1/1:51:51:255,154,0	0/1:50:24:255,0,255	1/1:68:68:255,205,0	.	1/1:56:56:255,169,0	1/1:35:35:255,105,0	1/1:68:68:255,205,0	0/1:57:26:255,0,255	0/1:42:19:255,0,255	.	1/1:37:37:255,111,0	0/1:49:25:255,0,255	0/1:47:19:255,0,255	0/1:50:16:236,0,255	.	0/1:44:26:255,0,255	1/1:52:52:255,157,0	0/1:60:21:255,0,255	0/1:28:13:255,0,246	0/1:53:25:255,0,255	1/1:63:63:255,190,0	A	G	9	12	{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3)	.	Lower P-glycoprotein level, association with(CM000496)	ATC-ATT|Ile1145Ile|c.3435C>T|p.I1145I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10716719&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19625010&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19760622&dopt=Abstract)	10716719|19625010|19760622|24333728|22521303|19325113|17353904|17185560|16943773|16434479|16382445|15890883|15805193|15452306|15452305|15289602|14976162|14610718|12686700|11692082|11502320|11329060|10716719|10562306|9820555|9717696|9618515|9435299|9109439|8898203|7910522|7477118|3768958|3677098|3553950|3477522|3472246|3459187|3457471|3284909|3027054|3022150|3016920|2897240|2891692|2887402|2881619|2880583|2879621|2876781|2863759|2648129|2432605|2412130|2218502|1976255|1682809|1385112|1360207	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_HIF1_TFPATHWAY	BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	87160618	rs2032582	A	T	193.71	PASS	ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	exonic	NM_000927	.	missense SNV	ABCB1:NM_000927:exon22:c.T2677A:p.S893T	ENST00000265724.3,ENST00000488737.2,ENST00000543898.1	.	7q21.12	.	.	Score=959;Name=V$HSF2_01	.	.	rs2032582	CLINSIG=Benign\x2cBenign;CLNDBN=not_specified\x2cnot_specified;CLNACC=RCV000152717.3,RCV000152713.3;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN169374\x2cCN169374	.	0.13289	0.1339	0.048722	.	0.0371	0.1393	0.140122441041	0.122595896635	0.021,D	0.07,B	0.001,B	0.996997,N	0.000295,D	1.94,M	-2.58,D	14.5627	0.319	2.117	3.596581,23.2	3.72	AC=4,24;AN=42;BQB=0.982124;DP4=118,14,256,30;DP=563;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.749312;SF=0,1,2,3,4,5,6,8,9,10,11,12,14,15,16,17,19,20,22,23,24;SGB=-0.676189;VDB=0.280152	GT:DP:DV:PL	0/2:20:11:237,.,.,0,.,203	2/2:25:25:255,.,.,75,.,0	0/2:13:7:211,.,.,0,.,157	0/1:20:12:255,0,185,.,.,.	2/2:22:22:255,.,.,66,.,0	0/2:20:12:232,.,.,0,.,185	2/2:10:10:255,.,.,30,.,0	.	2/2:25:25:255,.,.,75,.,0	2/2:24:24:255,.,.,72,.,0	2/2:28:28:255,.,.,84,.,0	0/2:26:14:255,.,.,0,.,198	0/2:20:15:255,.,.,0,.,128	.	0/2:12:6:160,.,.,0,.,161	0/1:24:14:255,0,238,.,.,.	0/2:25:9:139,.,.,0,.,255	0/2:17:7:164,.,.,0,.,195	.	0/2:18:7:162,.,.,0,.,254	0/1:24:10:247,0,251,.,.,.	.	0/1:12:5:155,0,173,.,.,.	0/2:17:7:209,.,.,0,.,255	2/2:16:16:255,.,.,48,.,0	A	T,C	7	14	{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3)	.	Inflammatory bowel disease, association with(CM033585) || Lung cancer, lower risk, association with(CM065955)	TCT-GCT|Ser893Ala|c.2677T>G|p.S893A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14610718&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20938465&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19626470&dopt=Abstract) || TCT-ACT|Ser893Thr|c.2677T>A|p.S893T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17120199&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19415305&dopt=Abstract)	14610718|20938465|19626470|17120199|19415305|24333728|22521303|19325113|17353904|17185560|16943773|16434479|16382445|15890883|15805193|15452306|15452305|15289602|14976162|14610718|12686700|11692082|11502320|11329060|10716719|10562306|9820555|9717696|9618515|9435299|9109439|8898203|7910522|7477118|3768958|3677098|3553950|3477522|3472246|3459187|3457471|3284909|3027054|3022150|3016920|2897240|2891692|2887402|2881619|2880583|2879621|2876781|2863759|2648129|2432605|2412130|2218502|1976255|1682809|1385112|1360207	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_HIF1_TFPATHWAY	BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	87160618	rs2032582	A	C	193.71	PASS	ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	exonic	NM_000927	.	missense SNV	ABCB1:NM_000927:exon22:c.T2677G:p.S893A	ENST00000265724.3,ENST00000488737.2,ENST00000543898.1	.	7q21.12	.	.	Score=959;Name=V$HSF2_01	.	.	rs2032582	CLINSIG=Benign\x2cBenign;CLNDBN=not_specified\x2cnot_specified;CLNACC=RCV000152717.3,RCV000152713.3;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN169374\x2cCN169374	.	0.465116	0.4683	0.617013	0.6781	0.5432	0.4653	0.452526474732	0.469951805288	1.0,T	0.005,B	0.0,B	0.999143,P	0.000295,N	-1.02,N	-2.24,D	14.5627	0.319	2.117	.	3.72	AC=4,24;AN=42;BQB=0.982124;DP4=118,14,256,30;DP=563;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.749312;SF=0,1,2,3,4,5,6,8,9,10,11,12,14,15,16,17,19,20,22,23,24;SGB=-0.676189;VDB=0.280152	GT:DP:DV:PL	0/2:20:11:237,.,.,0,.,203	2/2:25:25:255,.,.,75,.,0	0/2:13:7:211,.,.,0,.,157	0/1:20:12:255,0,185,.,.,.	2/2:22:22:255,.,.,66,.,0	0/2:20:12:232,.,.,0,.,185	2/2:10:10:255,.,.,30,.,0	.	2/2:25:25:255,.,.,75,.,0	2/2:24:24:255,.,.,72,.,0	2/2:28:28:255,.,.,84,.,0	0/2:26:14:255,.,.,0,.,198	0/2:20:15:255,.,.,0,.,128	.	0/2:12:6:160,.,.,0,.,161	0/1:24:14:255,0,238,.,.,.	0/2:25:9:139,.,.,0,.,255	0/2:17:7:164,.,.,0,.,195	.	0/2:18:7:162,.,.,0,.,254	0/1:24:10:247,0,251,.,.,.	.	0/1:12:5:155,0,173,.,.,.	0/2:17:7:209,.,.,0,.,255	2/2:16:16:255,.,.,48,.,0	A	T,C	7	14	{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3)	.	Inflammatory bowel disease, association with(CM033585) || Lung cancer, lower risk, association with(CM065955)	TCT-GCT|Ser893Ala|c.2677T>G|p.S893A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14610718&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20938465&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19626470&dopt=Abstract) || TCT-ACT|Ser893Thr|c.2677T>A|p.S893T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17120199&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19415305&dopt=Abstract)	14610718|20938465|19626470|17120199|19415305|24333728|22521303|19325113|17353904|17185560|16943773|16434479|16382445|15890883|15805193|15452306|15452305|15289602|14976162|14610718|12686700|11692082|11502320|11329060|10716719|10562306|9820555|9717696|9618515|9435299|9109439|8898203|7910522|7477118|3768958|3677098|3553950|3477522|3472246|3459187|3457471|3284909|3027054|3022150|3016920|2897240|2891692|2887402|2881619|2880583|2879621|2876781|2863759|2648129|2432605|2412130|2218502|1976255|1682809|1385112|1360207	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_HIF1_TFPATHWAY	BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	87179601	rs1128503	A	G	216.44	PASS	ABCB1	ATP-binding cassette, sub-family B (MDR/TAP), member 1	exonic	NM_000927	.	synonymous SNV	ABCB1:NM_000927:exon13:c.T1236C:p.G412G	ENST00000265724.3,ENST00000543898.1	.	7q21.12	.	.	.	.	.	rs1128503	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000174498.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.347176	0.373	0.583866	0.6424	0.5419	0.3590	0.347176	0.342548079327	.	.	.	.	.	.	.	.	-0.036	-0.299	.	.	AC=10;AN=18;BQB=0.827878;DP4=40,70,59,94;DP=330;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.19515;SF=3,4,8,9,10,12,15,20,24;SGB=-0.688148;VDB=0.183307	GT:DP:DV:PL	.	.	.	0/1:33:15:255,0,255	0/1:27:14:255,0,255	.	.	.	0/1:28:12:255,0,255	0/1:35:20:255,0,255	0/1:33:14:255,0,255	.	0/1:20:14:255,0,152	.	.	0/1:19:7:200,0,255	.	.	.	.	0/1:26:15:255,0,255	.	.	.	1/1:42:42:255,126,0	A	G	1	8	{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13}, 612244 (3)	.	Parkinson disease, association with(CM084696)	GGT-GGC|Gly412Gly|c.1236T>C|p.G412G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19196542&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18334914&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24305879&dopt=Abstract)	19196542|18334914|24305879|24333728|22521303|19325113|17353904|17185560|16943773|16434479|16382445|15890883|15805193|15452306|15452305|15289602|14976162|14610718|12686700|11692082|11502320|11329060|10716719|10562306|9820555|9717696|9618515|9435299|9109439|8898203|7910522|7477118|3768958|3677098|3553950|3477522|3472246|3459187|3457471|3284909|3027054|3022150|3016920|2897240|2891692|2887402|2881619|2880583|2879621|2876781|2863759|2648129|2432605|2412130|2218502|1976255|1682809|1385112|1360207	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_HIF1_TFPATHWAY	BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_NUCLEARRS_PATHWAY	REACTOME_ABACAVIR_TRANSPORT_AND_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	91842554	rs11542682	T	C	194.5	PASS	KRIT1	KRIT1, ankyrin repeat containing	exonic	NM_001013406,NM_004912,NM_194454,NM_194455,NM_194456	.	synonymous SNV	KRIT1:NM_001013406:exon15:c.A1836G:p.V612V,KRIT1:NM_004912:exon17:c.A1980G:p.V660V,KRIT1:NM_194454:exon17:c.A1980G:p.V660V,KRIT1:NM_194455:exon17:c.A1980G:p.V660V,KRIT1:NM_194456:exon18:c.A1980G:p.V660V	ENST00000340022.2,ENST00000394505.2,ENST00000394503.2,ENST00000412043.2,ENST00000394507.1	.	7q21.2	.	.	.	.	.	rs11542682	.	.	0.363787	0.3403	0.180511	0.1023	0.1289	0.3649	0.363705603369	0.365384283654	.	.	.	.	.	.	.	.	-0.031	-0.065	.	.	AC=16;AN=28;BQB=0.829029;DP4=104,22,148,25;DP=406;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.281535;SF=0,2,5,6,8,9,12,13,15,18,19,20,22,24;SGB=-0.69168;VDB=0.62872	GT:DP:DV:PL	1/1:19:19:255,57,0	.	0/1:15:10:255,0,154	.	.	0/1:25:10:211,0,255	0/1:24:10:247,0,255	.	0/1:22:13:255,0,229	1/1:23:23:255,69,0	.	.	0/1:17:10:205,0,186	0/1:13:7:152,0,159	.	0/1:26:13:225,0,254	.	.	0/1:27:17:255,0,217	0/1:19:9:232,0,255	0/1:27:14:255,0,255	.	0/1:11:4:117,0,229	.	0/1:31:14:255,0,255	T	C	2	12	Cerebral cavernous malformations-1, 116860 (3); Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860 (3)	.	Phenotype modifier, association with(CM105502)	GTA-GTG|Val660Val|c.1980A>G|p.V660V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20419355&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23485406&dopt=Abstract)	20419355|23485406|24990152|23748444|21859843|20181950|19454328|19088124|19088123|18469344|18060436|17562932|17211633|16037064|15368504|15079030|14697511|12668602|12404106|12140362|11941540|11914398|11914398|11854171|11831930|11741838|11310633|11222804|11161805|11161791|10814716|10545614|10508515|9285558|7898703|3393196	SIGNAL_TRANSDUCTION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	.	GTPASE_REGULATOR_ACTIVITY;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	7	93055753	rs1801197	A	G	226.08	PASS	CALCR	calcitonin receptor	exonic	NM_001164737,NM_001164738,NM_001742	.	missense SNV	CALCR:NM_001164738:exon13:c.T1340C:p.L447P,CALCR:NM_001742:exon14:c.T1340C:p.L447P,CALCR:NM_001164737:exon16:c.T1442C:p.L481P	ENST00000394441.1,ENST00000426151.1,ENST00000360249.4,ENST00000421592.1,ENST00000359558.2	.	7q21.3	.	.	.	.	.	rs1801197	CLINSIG=other;CLNDBN=Bone_mineral_density_quantitative_trait_locus_15;CLNACC=RCV000019203.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677169:613418	.	0.848837	0.8611	0.54353	0.3275	0.3800	0.8668	0.859877294028	0.830528778846	0.799,T	0.0,B	0.0,B	0.999992,P	.	.	0.76,T	4.6969	-0.050	1.786	.	.	AC=42;AN=50;BQB=0.836993;DP4=141,26,681,198;DP=1432;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.947407;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=0.741683	GT:DP:DV:PL	1/1:37:37:255,111,0	0/1:43:20:255,0,255	1/1:44:44:255,132,0	1/1:46:46:255,138,0	1/1:37:37:255,111,0	1/1:63:63:255,190,0	1/1:37:37:255,111,0	1/1:42:42:255,126,0	1/1:36:36:255,108,0	1/1:41:41:255,123,0	1/1:35:35:255,105,0	0/1:42:21:255,0,255	0/1:30:13:255,0,255	0/1:37:20:255,0,255	0/1:30:15:255,0,255	0/1:43:22:255,0,255	1/1:29:28:255,27,0	1/1:33:33:255,99,0	1/1:41:41:255,123,0	0/1:42:20:255,0,255	0/1:51:21:255,0,255	1/1:72:72:255,217,0	1/1:17:17:255,51,0	1/1:60:60:255,181,0	1/1:58:58:255,175,0	A	G	17	8	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)	.	Lower lumbar bone mineral density, association(CM980299)	CCG-CTG|Pro447Leu|c.1340C>T|p.P447L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9675109&dopt=Abstract)	9675109|12730726|10385705|9817931|9675109|9571205|9003491|7789182|7769107|1331173	REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;RESPONSE_TO_STEROID_HORMONE_STIMULUS;RESPONSE_TO_CHEMICAL_STIMULUS;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REGULATION_OF_CATALYTIC_ACTIVITY;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;RESPONSE_TO_HORMONE_STIMULUS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;CAMP_MEDIATED_SIGNALING	.	HORMONE_BINDING;PEPTIDE_BINDING	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	PS1,PS3,BA1
L	7	94039032	rs42519	C	T	227.28	PASS	COL1A2	collagen, type I, alpha 2	splicing	NM_000089	NM_000089:exon19:c.937-3C>T	.	.	ENST00000297268.6	.	7q21.3	.	.	.	.	.	rs42519	.	.	0.89701	0.9018	0.824281	0.8041	0.7742	0.9151	0.866768725881	0.8978365625	.	.	.	.	.	.	.	.	0.131	0.214	.	2.72	AC=47;AN=50;BQB=0.987924;DP4=70,26,708,427;DP=1682;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.542006;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.324681	GT:DP:DV:PL	0/1:58:31:255,0,255	1/1:42:42:255,126,0	1/1:51:51:255,154,0	1/1:45:45:255,135,0	1/1:39:39:255,117,0	0/1:71:28:255,0,255	1/1:43:43:255,129,0	1/1:64:63:255,133,0	1/1:43:43:255,129,0	1/1:59:59:255,178,0	1/1:45:45:255,132,0	1/1:51:51:255,154,0	1/1:40:40:255,120,0	1/1:45:45:255,135,0	1/1:39:39:255,117,0	1/1:53:53:255,160,0	1/1:59:59:255,178,0	1/1:30:30:255,90,0	1/1:59:59:255,178,0	1/1:48:48:255,144,0	0/1:41:16:255,0,255	1/1:66:66:255,199,0	1/1:22:22:255,66,0	1/1:58:58:255,175,0	1/1:60:60:255,181,0	C	T	22	3	Ehlers-Danlos syndrome, type VIIB, 130060 (3); Osteogenesis imperfecta, type IV, 166220 (3); Osteogenesis imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type II, 166210 (3); {Osteoporosis, postmenopausal}, 166710 (3); Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)	.	Osteogenesis imperfecta(CS151749)	IVS18 as C-T -3|c.937-3C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25742658&dopt=Abstract)	25742658|20087402|19208385|18481852|18073209|17078022|16816023|15172002|15077201|11836364|11359465|11288717|10982177|10807697|9923651|9443882|9399846|9295084|9268111|9143923|9101290|9099837|9016532|8950681|8829655|8786074|8786065|8728690|8456807|8444468|8104634|8100856|8081394|8081389|8071956|7959683|7881420|7864655|7749416|6950413|6934545|6881137|6857446|6825474|6773953|6492090|6418743|6282119|6272119|6267597|6092353|6087329|4742738|4011429|3995789|3857213|3800425|3733683|3680255|3621666|3467899|3456166|3421913|3403536|3385745|3383844|3372533|3338795|3023615|3011649|3001313|2993307|2992938|2987104|2914942|2897363|2839839|2824475|2777808|2777764|2776477|2738906|2567784|2454224|2409282|2394758|2066103|2064612|2052622|1990839|1978725|1874719|1712342|1711048|1577745|1556139|1551666|1463018|1385413|1301191|458828|86915	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_SMAD2_3NUCLEARPATHWAY;PID_ENDOTHELINPATHWAY;PID_INTEGRIN1_PATHWAY;PID_IL4_2PATHWAY;PID_INTEGRIN3_PATHWAY;PID_FRA_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_AP1_PATHWAY;PID_CMYB_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_LYMPHANGIOGENESIS_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_COLLAGEN_FORMATION;REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_GPVI_MEDIATED_ACTIVATION_CASCADE;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	7	94043239	rs42524	C	G	223.16	PASS	COL1A2	collagen, type I, alpha 2	exonic	NM_000089	.	missense SNV	COL1A2:NM_000089:exon28:c.C1645G:p.P549A	ENST00000297268.6	.	7q21.3	.	.	.	.	.	rs42524	.	.	0.900332	0.9067	0.821685	0.7943	0.7693	0.9151	0.908881880551	0.902644163462	0.979,T	0.0,B	0.0,B	0.99961,P	0.000130,N	2.095,M	-4.05,D	17.2058	1.557	1.249	1.144383,11.45	5.66	AC=47;AN=50;BQB=0.2608;DP4=37,17,352,191;DP=809;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.949464;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.888012	GT:DP:DV:PL	0/1:24:10:220,0,255	1/1:21:21:255,63,0	1/1:33:33:255,99,0	1/1:25:25:255,75,0	1/1:27:27:255,81,0	0/1:31:12:255,0,255	1/1:22:22:255,66,0	1/1:26:26:255,78,0	1/1:23:23:255,69,0	1/1:17:17:255,51,0	1/1:22:22:255,66,0	1/1:19:19:255,57,0	1/1:18:18:255,54,0	1/1:24:24:255,72,0	1/1:19:19:255,57,0	1/1:28:28:255,84,0	1/1:25:25:255,75,0	1/1:20:20:255,60,0	1/1:23:23:255,69,0	1/1:23:23:255,69,0	0/1:30:9:209,0,255	1/1:41:41:255,123,0	1/1:9:9:234,27,0	1/1:20:20:255,60,0	1/1:27:27:255,81,0	C	G	22	3	Ehlers-Danlos syndrome, type VIIB, 130060 (3); Osteogenesis imperfecta, type IV, 166220 (3); Osteogenesis imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type II, 166210 (3); {Osteoporosis, postmenopausal}, 166710 (3); Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)	.	Intracranial aneurysm, susceptibility, association with(CM040403)	GCT-CCT|Ala549Pro|c.1645G>C|p.A549P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14739420&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19426706&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	14739420|19426706|25525159|20087402|19208385|18481852|18073209|17078022|16816023|15172002|15077201|11836364|11359465|11288717|10982177|10807697|9923651|9443882|9399846|9295084|9268111|9143923|9101290|9099837|9016532|8950681|8829655|8786074|8786065|8728690|8456807|8444468|8104634|8100856|8081394|8081389|8071956|7959683|7881420|7864655|7749416|6950413|6934545|6881137|6857446|6825474|6773953|6492090|6418743|6282119|6272119|6267597|6092353|6087329|4742738|4011429|3995789|3857213|3800425|3733683|3680255|3621666|3467899|3456166|3421913|3403536|3385745|3383844|3372533|3338795|3023615|3011649|3001313|2993307|2992938|2987104|2914942|2897363|2839839|2824475|2777808|2777764|2776477|2738906|2567784|2454224|2409282|2394758|2066103|2064612|2052622|1990839|1978725|1874719|1712342|1711048|1577745|1556139|1551666|1463018|1385413|1301191|458828|86915	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_SMAD2_3NUCLEARPATHWAY;PID_ENDOTHELINPATHWAY;PID_INTEGRIN1_PATHWAY;PID_IL4_2PATHWAY;PID_INTEGRIN3_PATHWAY;PID_FRA_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_AP1_PATHWAY;PID_CMYB_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_LYMPHANGIOGENESIS_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_COLLAGEN_FORMATION;REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_GPVI_MEDIATED_ACTIVATION_CASCADE;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	7	94937446	rs662	T	C	218.86	PASS	PON1	paraoxonase 1	exonic	NM_000446	.	missense SNV	PON1:NM_000446:exon6:c.A575G:p.Q192R	ENST00000542556.1,ENST00000222381.3	.	7q21.3	.	.	.	.	.	rs662	CLINSIG=other|other|other;CLNDBN=Coronary_artery_disease\x2c_susceptibility_to|Coronary_artery_spasm_2\x2c_susceptibility_to|Enzyme_activity_finding;CLNACC=RCV000014739.2|RCV000014740.2|RCV000133464.2;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C1840169|C3149706|C1827841:424017009	.	0.647841	0.6657	0.542931	0.4122	0.3770	0.6614	0.621746102603	0.63221178125	0.779,T	0.0,B	0.0,B	1,P	0.306026,N	-0.64,N	0.9,T	8.8215	-0.587	-1.303	.	.	AC=29;AN=44;BQB=0.999781;DP4=218,124,357,179;DP=1241;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.419372;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.383677	GT:DP:DV:PL	1/1:49:49:255,148,0	.	0/1:30:17:255,0,255	0/1:48:13:245,0,255	0/1:55:27:255,0,255	1/1:36:36:255,108,0	1/1:48:48:255,144,0	0/1:49:21:255,0,255	0/1:40:16:255,0,255	0/1:38:19:255,0,255	0/1:42:15:255,0,255	0/1:46:23:255,0,255	0/1:26:7:156,0,255	0/1:29:15:255,0,255	1/1:36:36:255,108,0	0/1:35:15:255,0,255	.	.	1/1:32:32:255,96,0	0/1:38:19:255,0,255	1/1:38:38:255,114,0	0/1:57:25:255,0,255	1/1:20:20:255,60,0	0/1:38:16:255,0,255	0/1:48:29:255,0,255	T	C	7	15	{Coronary artery disease, susceptibility to} (3); {Coronary artery spasm 2, susceptibility to (3); {Organophosphate poisoning, sensitivity to} (3); {Microvascular complications of diabetes 5}, 612633 (3)	.	Longevity, association with(CM930596)	CAA-CGA|Gln192Arg|c.575A>G|p.Q192R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15050299&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22750797&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22796398&dopt=Abstract)	15050299|22750797|22796398|21170047|16139510|15924216|15772423|15241482|14295494|13919743|12454802|12082503|11918623|11889198|11888590|11810302|11788650|11476678|11335891|11266077|11238489|9714608|9685159|9661650|9506841|9443884|9385372|9215303|9170151|9109446|9011577|8896566|8825627|8812495|8770857|8675673|8098250|7916578|6324579|6316781|6305189|6301268|5968902|5107117|4694515|3017612|3009059|2998653|2997931|2843045|2458038|1718413|1657140|1180483|1003443|870412	.	.	.	.	.	.	.	PS1,PS3,BA1
L	7	113518434	rs1799999	C	A	212.9	PASS	PPP1R3A	protein phosphatase 1, regulatory subunit 3A	exonic	NM_002711	.	missense SNV	PPP1R3A:NM_002711:exon4:c.G2713T:p.D905Y	ENST00000284601.3	.	7q31.1	.	.	.	.	.	rs1799999	CLINSIG=other;CLNDBN=Insulin_resistance\x2c_susceptibility_to;CLNACC=RCV000009243.2;CLNDSDB=MedGen;CLNDSDBID=C1852091	.	0.657807	0.6409	0.308706	0.1353	0.2191	0.6952	0.67075014242	0.653845858173	0.0,D	0.72,P	0.976,D	0.836062,P	0.024511,N	1.83,L	2.05,T	11.6403	2.646	3.209	4.737994,24.7	5.64	AC=32;AN=42;BQB=0.929077;DP4=85,49,264,144;DP=687;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.811004;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,18,20,21,22,23;SGB=-0.693139;VDB=0.771334	GT:DP:DV:PL	1/1:36:36:255,108,0	1/1:31:31:255,93,0	1/1:19:19:255,57,0	1/1:26:26:255,78,0	1/1:28:28:255,84,0	0/1:28:18:255,0,239	0/1:21:10:234,0,255	1/1:21:21:255,63,0	1/1:24:24:255,72,0	1/1:29:29:255,87,0	1/1:24:24:255,72,0	.	0/1:23:12:231,0,255	0/1:24:10:250,0,255	0/1:17:5:156,0,255	1/1:28:28:255,84,0	1/1:30:30:255,90,0	.	0/1:29:11:206,0,255	.	0/1:29:11:255,0,255	0/1:29:12:255,0,255	0/1:19:9:197,0,224	0/1:27:14:255,0,255	.	C	A	11	10	Insulin resistance, severe, digenic, 604367 (3)	.	Insulin resistance, association with(CM950973)	GAC-TAC|Asp905Tyr|c.2713G>T|p.D905Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7581368&dopt=Abstract)	7581368|15181086|12831406|12118251|9814479|7926294|7581368|1651919	.	.	.	KEGG_INSULIN_SIGNALING_PATHWAY	PID_INSULIN_GLUCOSE_PATHWAY	.	.	PS1,PS3,BA1
L	7	113518498	rs1800000	C	A	208	PASS	PPP1R3A	protein phosphatase 1, regulatory subunit 3A	exonic	NM_002711	.	missense SNV	PPP1R3A:NM_002711:exon4:c.G2649T:p.R883S	ENST00000284601.3	.	7q31.1	.	.	.	.	.	rs1800000	.	.	0.121262	0.126	0.0357428	0.0032	0.0283	0.1445	0.131699635528	0.127403442308	0.264,T	0.002,B	0.005,B	1,P	0.858650,N	0,N	2.46,T	4.5833	-0.199	-0.858	.	.	AC=7;AN=14;BQB=0.666078;DP4=81,29,78,32;DP=275;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.682939;SF=0,3,7,12,16,20,23;SGB=-0.691153;VDB=0.0170505	GT:DP:DV:PL	0/1:39:18:255,0,255	.	.	0/1:28:11:238,0,255	.	.	.	0/1:28:12:220,0,255	.	.	.	.	0/1:25:11:210,0,255	.	.	.	0/1:34:23:255,0,204	.	.	.	0/1:34:18:255,0,255	.	.	0/1:32:17:255,0,255	.	C	A	0	7	Insulin resistance, severe, digenic, 604367 (3)	.	Insulin resistance, association with(CM981621)	AGG-AGT|Arg883Ser|c.2649G>T|p.R883S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9726244&dopt=Abstract)	9726244|15181086|12831406|12118251|9814479|7926294|7581368|1651919	.	.	.	KEGG_INSULIN_SIGNALING_PATHWAY	PID_INSULIN_GLUCOSE_PATHWAY	.	.	PS1,PS3,BA1
L	7	117199533	rs213950	G	A	220.76	PASS	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	exonic	NM_000492	.	missense SNV	CFTR:NM_000492:exon11:c.G1408A:p.V470M	ENST00000003084.6,ENST00000454343.1	.	7q31.2	.	.	.	.	.	rs213950	CLINSIG=Benign\x2cBenign|other;CLNDBN=not_specified\x2cCystic_fibrosis|not_specified;CLNACC=RCV000152994.2,RCV000007550.2|RCV000036517.9;CLNDSDB=MedGen\x2cMedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=CN169374\x2cC0010674:219700:586:190905008|CN169374	.	0.390365	0.3869	0.582069	0.5976	0.4829	0.4267	0.414241704441	0.393028521635	0.598,T	0.002,B	0.0,B	0.999638,P	0.000000,N	0.14,N	-3.39,D	2.8388	0.103	2.609	1.457640,13.09	3.05	AC=26;AN=42;BQB=0.99886;DP4=226,69,344,81;DP=1019;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.672134;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,19,20,23,24;SGB=-0.692067;VDB=0.606083	GT:DP:DV:PL	0/1:36:20:255,0,255	0/1:34:13:255,0,255	1/1:24:24:255,72,0	0/1:46:22:255,0,255	0/1:39:23:255,0,246	0/1:38:15:240,0,255	1/1:30:30:255,90,0	1/1:40:40:255,120,0	0/1:33:15:255,0,255	.	0/1:22:12:255,0,242	0/1:35:20:255,0,255	0/1:24:9:224,0,248	1/1:33:33:255,99,0	0/1:25:11:252,0,255	0/1:41:17:255,0,255	0/1:36:11:249,0,255	0/1:34:17:255,0,255	.	0/1:34:15:255,0,255	0/1:37:22:255,0,255	.	.	1/1:39:39:255,117,0	0/1:40:17:255,0,255	G	A	5	16	Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas deferens, 277180 (3); Sweat chloride elevation without CF (3); {Pancreatitis, idiopathic}, 167800 (3); {Hypertrypsinemia, neonatal} (3); {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)	.	Respiratory/pancreatic disease, association with(CM034388)	ATG-GTG|Met470Val|c.1408A>G|p.M470V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12952861&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17981921&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9435322&dopt=Abstract)	12952861|17981921|9435322|25981758|24727426|22981120|22763554|22318583|22121115|22047557|21083385|20705837|20595578|20130090|19880712|18507830|18305154|17539902|17475917|17235394|17110338|16921366|16901789|16778595|16740913|16283068|16078047|15857421|15840711|15776432|15744523|15729345|15666307|15367919|15195661|15105504|15024729|14993613|14993601|14993601|14697202|14685937|14667816|14623323|14534336|14515130|12952861|12913074|12833420|12833419|12832418|12802335|12783301|12719375|12651871|12503104|12220181|12068373|12007216|11978765|11938439|11823443|11809721|11746017|11733566|11707463|11448937|11285240|11242048|11168024|11113843|11051556|10869121|10852925|10801389|10798353|10777364|10762539|10655503|10652362|10652351|10580502|10480369|10445036|10419506|10377174|10330420|10204861|9931011|9849891|9781011|9725922|9725921|9710435|9683582|9678705|9590693|9516408|9501909|9499426|9461128|9439669|9435322|9383031|9359706|9272738|9237625|9222597|9164051|9056552|9039981|9017943|9003498|9002674|8989333|8823295|8644755|8605891|8597960|8557666|8557264|8556303|8535440|8528204|8262525|8166795|8100293|8097485|8092189|8064813|7877651|7816853|7757078|7739684|7719346|7692448|7692051|7691345|7691344|7686820|7686423|7685107|7684646|7683954|7683952|7682984|7680769|7679367|7635469|7581390|7573058|7560099|7556083|7553864|7545869|7545494|7543567|7541313|7537148|7524910|7524909|7522211|7520798|7520022|7518829|7513695|7513292|7512993|7512981|7509564|7509310|7506096|7504970|7504969|7503838|6775274|6114241|3569303|2995924|2915972|2772657|2687159|2570460|2565038|2531931|2475911|2349952|2344617|2339696|2300168|2236053|2233965|2233932|2220803|2218515|2210769|2210768|2210767|2135388|2045102|1999830|1999342|1998343|1997384|1990834|1990833|1977306|1971393|1944451|1937486|1937479|1903761|1770535|1757965|1756602|1723056|1721624|1720926|1716244|1715308|1715308|1713921|1713683|1712898|1712752|1710601|1710599|1709778|1709095|1706309|1699669|1699126|1695717|1691449|1682496|1678049|1673094|1670678|1545465|1536179|1518030|1385049|1384328|1384321|1382232|1381442|1380943|1380723|1380673|1379414|1379413|1379211|1379210|1377276|1377165|1376017|1374361|1374052|1373935|1373934|1372586|1371265|1370875|1370653|1370365|1370353|1302005|1302004|1284639|1284540|1284539|1284468|1284466|1282491	RESPIRATORY_GASEOUS_EXCHANGE	MEMBRANE_PART;MEMBRANE;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_DOMAIN_SPECIFIC_BINDING;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;ADENYL_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;PDZ_DOMAIN_BINDING;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS;KEGG_VIBRIO_CHOLERAE_INFECTION	.	BIOCARTA_CFTR_PATHWAY	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	117235055	rs1042077	T	G	169.34	PASS	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	exonic	NM_000492	.	synonymous SNV	CFTR:NM_000492:exon15:c.T2562G:p.T854T	ENST00000003084.6,ENST00000454343.1	.	7q31.2	.	.	.	.	.	rs1042077	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000036519.9;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.398671	0.3919	0.479233	0.4028	0.3889	0.4290	0.413476022971	0.394230783654	.	.	.	.	.	.	.	.	0.079	0.279	.	.	AC=26;AN=42;BQB=0.763675;DP4=67,48,119,47;DP=424;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.964642;MQSB=0.950952;RPB=0.241161;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,19,20,23,24;SGB=-0.556411;VDB=0.23997	GT:DP:DV:PL	0/1:11:4:99,0,211	0/1:16:5:168,0,255	1/1:14:14:255,42,0	0/1:12:7:230,0,162	0/1:17:7:206,0,255	0/1:13:6:220,0,210	1/1:20:20:255,60,0	1/1:15:15:255,45,0	0/1:14:6:169,0,242	.	0/1:8:5:197,0,112	0/1:21:13:255,0,248	0/1:3:2:88,0,28	1/1:11:11:255,33,0	0/1:7:4:169,0,127	0/1:22:9:255,0,255	0/1:13:6:190,0,247	0/1:9:5:178,0,133	.	0/1:11:2:64,0,218	0/1:19:9:229,0,255	.	.	1/1:6:6:232,18,0	0/1:19:10:255,0,255	T	G	5	16	Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas deferens, 277180 (3); Sweat chloride elevation without CF (3); {Pancreatitis, idiopathic}, 167800 (3); {Hypertrypsinemia, neonatal} (3); {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)	.	Altered splicing(CS042144) || Cystic fibrosis(CD003291)	IVS14a ds T-G -58|c.2562T>G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15241793&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24129438&dopt=Abstract) || GATAT^853ATTACtGTCCACAAGA|c.2562delT(http://www.genet.sickkids.on.ca/cftr/)	15241793|24129438|25981758|24727426|22981120|22763554|22318583|22121115|22047557|21083385|20705837|20595578|20130090|19880712|18507830|18305154|17539902|17475917|17235394|17110338|16921366|16901789|16778595|16740913|16283068|16078047|15857421|15840711|15776432|15744523|15729345|15666307|15367919|15195661|15105504|15024729|14993613|14993601|14993601|14697202|14685937|14667816|14623323|14534336|14515130|12952861|12913074|12833420|12833419|12832418|12802335|12783301|12719375|12651871|12503104|12220181|12068373|12007216|11978765|11938439|11823443|11809721|11746017|11733566|11707463|11448937|11285240|11242048|11168024|11113843|11051556|10869121|10852925|10801389|10798353|10777364|10762539|10655503|10652362|10652351|10580502|10480369|10445036|10419506|10377174|10330420|10204861|9931011|9849891|9781011|9725922|9725921|9710435|9683582|9678705|9590693|9516408|9501909|9499426|9461128|9439669|9435322|9383031|9359706|9272738|9237625|9222597|9164051|9056552|9039981|9017943|9003498|9002674|8989333|8823295|8644755|8605891|8597960|8557666|8557264|8556303|8535440|8528204|8262525|8166795|8100293|8097485|8092189|8064813|7877651|7816853|7757078|7739684|7719346|7692448|7692051|7691345|7691344|7686820|7686423|7685107|7684646|7683954|7683952|7682984|7680769|7679367|7635469|7581390|7573058|7560099|7556083|7553864|7545869|7545494|7543567|7541313|7537148|7524910|7524909|7522211|7520798|7520022|7518829|7513695|7513292|7512993|7512981|7509564|7509310|7506096|7504970|7504969|7503838|6775274|6114241|3569303|2995924|2915972|2772657|2687159|2570460|2565038|2531931|2475911|2349952|2344617|2339696|2300168|2236053|2233965|2233932|2220803|2218515|2210769|2210768|2210767|2135388|2045102|1999830|1999342|1998343|1997384|1990834|1990833|1977306|1971393|1944451|1937486|1937479|1903761|1770535|1757965|1756602|1723056|1721624|1720926|1716244|1715308|1715308|1713921|1713683|1712898|1712752|1710601|1710599|1709778|1709095|1706309|1699669|1699126|1695717|1691449|1682496|1678049|1673094|1670678|1545465|1536179|1518030|1385049|1384328|1384321|1382232|1381442|1380943|1380723|1380673|1379414|1379413|1379211|1379210|1377276|1377165|1376017|1374361|1374052|1373935|1373934|1372586|1371265|1370875|1370653|1370365|1370353|1302005|1302004|1284639|1284540|1284539|1284468|1284466|1282491	RESPIRATORY_GASEOUS_EXCHANGE	MEMBRANE_PART;MEMBRANE;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_DOMAIN_SPECIFIC_BINDING;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;ADENYL_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;PDZ_DOMAIN_BINDING;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS;KEGG_VIBRIO_CHOLERAE_INFECTION	.	BIOCARTA_CFTR_PATHWAY	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	7	138417791	rs3807153	A	G	219.75	PASS	ATP6V0A4	ATPase, H+ transporting, lysosomal V0 subunit a4	exonic	NM_020632,NM_130840,NM_130841	.	missense SNV	ATP6V0A4:NM_130840:exon16:c.T1739C:p.M580T,ATP6V0A4:NM_130841:exon16:c.T1739C:p.M580T,ATP6V0A4:NM_020632:exon17:c.T1739C:p.M580T	ENST00000353492.4,ENST00000393054.1,ENST00000310018.2	.	7q34	.	.	.	.	.	rs3807153	CLINSIG=Pathogenic;CLNDBN=Renal_tubular_acidosis\x2c_distal\x2c_autosomal_recessive;CLNACC=RCV000005461.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864498:602722	.	0.0415282	0.0516	0.10603	0.0945	0.0691	0.0533	0.0436446741194	0.0348557396635	0.032,D	0.243,B	0.772,P	1.70251e-06,P	0.000180,D	3.015,M	-2.12,D	16.0707	2.194	9.337	4.356619,24.1	5.75	AC=4;AN=8;BQB=0.915545;DP4=29,19,31,22;DP=143;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.894337;SF=2,6,20,23;SGB=-0.651104;VDB=0.585032	GT:DP:DV:PL	.	.	0/1:16:8:246,0,255	.	.	.	0/1:31:17:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:13:255,0,255	.	.	0/1:28:15:255,0,255	.	A	G	0	4	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)	.	Distal renal tubular acidosis, autosomal recessive(CM002227)	ATG-ACG|Met580Thr|c.1739T>C|p.M580T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10973252&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24252324&dopt=Abstract)	10973252|20981092|24252324|12414817|10973252|10577919	SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;EXCRETION;NEUROLOGICAL_SYSTEM_PROCESS;SECRETION;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	CELL_PROJECTION_PART;BRUSH_BORDER;MEMBRANE_PART;MEMBRANE;CELL_PROJECTION;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_LYSOSOME;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	.	.	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT;REACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR	PS1,PS3,BA1
L	7	138455988	rs10258719	A	G	193.15	PASS	ATP6V0A4	ATPase, H+ transporting, lysosomal V0 subunit a4	exonic	NM_020632,NM_130840,NM_130841	.	missense SNV	ATP6V0A4:NM_130840:exon2:c.T5C:p.V2A,ATP6V0A4:NM_130841:exon2:c.T5C:p.V2A,ATP6V0A4:NM_020632:exon3:c.T5C:p.V2A	ENST00000353492.4,ENST00000393054.1,ENST00000483139.1,ENST00000310018.2	.	7q34	.	.	Score=777;Name=V$YY1_02	.	.	rs10258719	.	.	0.51495	0.5327	0.679513	0.7322	0.7040	0.4883	0.521439629403	0.516826766827	0.121,T	0.0,B	0.0,B	0.999995,P	0.000075,N	-1.555,N	-1.79,D	6.3994	-0.008	1.246	.	.	AC=25;AN=44;BQB=0.301194;DP4=110,111,106,141;DP=625;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.853271;SF=0,1,2,3,4,5,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.670168;VDB=0.237602	GT:DP:DV:PL	0/1:21:10:255,0,255	0/1:22:10:253,0,255	0/1:19:8:231,0,222	1/1:28:28:255,84,0	0/1:27:15:255,0,255	0/1:12:3:70,0,255	.	.	0/1:18:8:207,0,255	0/1:23:13:255,0,255	0/1:18:8:238,0,255	1/1:18:18:255,54,0	0/1:22:6:186,0,255	0/1:30:16:255,0,255	0/1:20:14:255,0,130	0/1:30:14:255,0,255	0/1:18:7:220,0,255	0/1:14:5:137,0,223	0/1:18:6:180,0,244	0/1:23:14:255,0,249	0/1:21:13:255,0,211	0/1:33:16:255,0,255	1/1:9:9:255,27,0	.	0/1:24:6:180,0,255	A	G	3	19	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)	.	Distal renal tubular acidosis, with sensorineural hearing loss(CM143112)	GTG-GCG|Val2Ala|c.5T>C|p.V2A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24564331&dopt=Abstract)	24564331|12414817|10973252|10577919	SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SENSORY_PERCEPTION;EXCRETION;NEUROLOGICAL_SYSTEM_PROCESS;SECRETION;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	CELL_PROJECTION_PART;BRUSH_BORDER;MEMBRANE_PART;MEMBRANE;CELL_PROJECTION;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_LYSOSOME;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	.	.	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT;REACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR	PS1,PS3,BA1
L	7	141672604	rs10246939	T	C	223.91	PASS	TAS2R38	taste receptor, type 2, member 38	exonic	NM_176817	.	missense SNV	TAS2R38:NM_176817:exon1:c.A886G:p.I296V	ENST00000547270.1	.	7q34	.	.	Score=775;Name=V$MYOGNF1_01	.	.	rs10246939	CLINSIG=drug response;CLNDBN=Phenylthiocarbamide_tasting;CLNACC=RCV000003040.1;CLNDSDB=MedGen;CLNDSDBID=C1868398	Bitter taste perception	0.69103	0.6766	0.520567	0.4632	0.4761	0.6719	0.676876150077	0.698317295673	0.235,T	0.759,P	0.747,P	1,P	0.000713,N	2.175,M	0.68,T	8.7971	-0.099	-2.380	.	.	AC=29;AN=44;BQB=0.393225;DP4=349,143,651,239;DP=1904;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.503715;SF=1,2,3,4,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.3494	GT:DP:DV:PL	.	1/1:62:62:255,187,0	0/1:72:29:255,0,255	0/1:67:32:255,0,255	0/1:57:32:255,0,255	.	0/1:72:42:255,0,255	0/1:84:36:255,0,255	0/1:62:27:255,0,255	1/1:62:62:255,187,0	0/1:67:37:255,0,255	0/1:76:42:255,0,255	1/1:44:44:255,132,0	.	0/1:47:27:255,0,255	0/1:66:26:255,0,255	0/1:58:27:255,0,255	0/1:47:22:255,0,255	1/1:59:59:255,178,0	0/1:54:28:255,0,255	1/1:68:68:255,205,0	0/1:83:44:255,0,255	1/1:35:35:255,105,0	1/1:64:64:255,193,0	0/1:76:45:255,0,255	T	C	7	15	[Phenylthiocarbamide tasting], 171200 (3)	23966204(2E-62)	Phenylthiocarbamide taste sensitivity, association(CM031370)	ATC-GTC|Ile296Val|c.886A>G|p.I296V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12595690&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15723792&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22130969&dopt=Abstract)	12595690|15723792|22130969|19628819|18524836|17250611|16612383|12595690|12584440	.	.	.	KEGG_TASTE_TRANSDUCTION	.	.	.	PS1,PS3,BA1
L	7	141673345	rs713598	C	G	223.91	PASS	TAS2R38	taste receptor, type 2, member 38	exonic	NM_176817	.	missense SNV	TAS2R38:NM_176817:exon1:c.G145C:p.A49P	ENST00000547270.1	.	7q34	.	.	.	.	.	rs713598	CLINSIG=drug response;CLNDBN=Phenylthiocarbamide_tasting;CLNACC=RCV000003038.1;CLNDSDB=MedGen;CLNDSDBID=C1868398	Bitter taste response	0.689369	0.6756	0.504792	0.4306	0.4459	0.6698	0.676110513017	0.697115466346	0.31,T	0.005,B	0.001,B	1,P	0.005260,N	-1.5,N	5.72,T	11.663	1.402	2.469	1.736257,14.61	5.1	AC=29;AN=44;BQB=0.996123;DP4=185,181,326,295;DP=1262;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.793593;SF=1,2,3,4,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.938976	GT:DP:DV:PL	.	1/1:44:44:255,132,0	0/1:42:20:255,0,255	0/1:46:23:255,0,255	0/1:43:20:255,0,255	.	0/1:46:24:255,0,255	0/1:55:31:255,0,255	0/1:45:23:255,0,255	1/1:39:39:255,117,0	0/1:42:22:255,0,255	0/1:38:22:255,0,255	1/1:21:21:255,63,0	.	0/1:44:25:255,0,255	0/1:56:28:255,0,255	0/1:62:27:255,0,255	0/1:44:19:255,0,255	1/1:46:46:255,138,0	0/1:50:29:255,0,255	1/1:36:36:255,108,0	0/1:74:32:255,0,255	1/1:15:15:255,45,0	1/1:51:51:255,154,0	0/1:48:24:255,0,255	C	G	7	15	[Phenylthiocarbamide tasting], 171200 (3)	20675712(2E-104)	Phenylthiocarbamide taste sensitivity, association(CM031368)	GCA-CCA|Ala49Pro|c.145G>C|p.A49P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12595690&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15723792&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22130969&dopt=Abstract)	12595690|15723792|22130969|19628819|18524836|17250611|16612383|12595690|12584440	.	.	.	KEGG_TASTE_TRANSDUCTION	.	.	.	PS1,PS3,BA1
L	7	143017807	rs10282312	G	T	228	PASS	CLCN1	chloride channel, voltage-sensitive 1	exonic	NM_000083	.	missense SNV	CLCN1:NM_000083:exon3:c.G352T:p.G118W	ENST00000343257.2	.	7q34	.	.	.	.	.	rs10282312	.	.	1	1	0.99361	0.9819	0.9861	1	1.0	1.0	1.0,T	0.0,B	0.0,B	0.975973,P	0.000000,N	-3.055,N	-2.92,D	9.9701	0.769	5.973	2.400849,18.83	4.99	AC=50;AN=50;DP4=0,0,469,117;DP=816;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=0.306469	GT:DP:DV:PL	1/1:21:21:255,63,0	1/1:24:24:255,72,0	1/1:18:18:255,54,0	1/1:22:22:255,66,0	1/1:22:22:255,66,0	1/1:32:32:255,96,0	1/1:25:25:255,75,0	1/1:20:20:255,60,0	1/1:23:23:255,69,0	1/1:26:26:255,78,0	1/1:18:18:255,54,0	1/1:25:25:255,75,0	1/1:17:17:255,51,0	1/1:33:33:255,99,0	1/1:27:27:255,81,0	1/1:21:21:255,63,0	1/1:29:29:255,87,0	1/1:25:25:255,75,0	1/1:22:22:255,66,0	1/1:25:25:255,75,0	1/1:23:23:255,69,0	1/1:24:24:255,72,0	1/1:13:13:255,39,0	1/1:24:24:255,72,0	1/1:27:27:255,81,0	G	T	25	0	Myotonia congenita, recessive, 255700 (3); Myotonia congenita, dominant, 160800 (3); Myotonia levior, recessive (3)	.	Myotonia(CM127929)	TGG-GGG|Trp118Gly|c.352T>G|p.W118G(oops.php|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23152584&dopt=Abstract)	23152584|23408874|22649220|18337100|15162127|12691663|12661046|12456816|12150906|12150905|12021248|11933197|11840191|11796999|11196649|11113225|10737121|10644771|9736777|9158157|9122265|8855341|8845168|8571958|8533761|8301644|8112288|7981750|7951242|7951215|7581380|5971035|4420758|1688667|1659665|1379744|561337	SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ANION_CHANNEL_ACTIVITY;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	7	150648198	rs1137617	A	G	226.17	PASS	KCNH2	potassium channel, voltage gated eag related subfamily H, member 2	exonic	NM_000238,NM_001204798,NM_172056,NM_172057	.	synonymous SNV	KCNH2:NM_001204798:exon4:c.T936C:p.Y312Y,KCNH2:NM_172057:exon4:c.T936C:p.Y312Y,KCNH2:NM_000238:exon8:c.T1956C:p.Y652Y,KCNH2:NM_172056:exon8:c.T1956C:p.Y652Y	ENST00000262186.5,ENST00000430723.3,ENST00000392968.2,ENST00000330883.4	CpG: 62	7q36.1	.	.	.	.	.	rs1137617	CLINSIG=Benign\x2cPathogenic;CLNDBN=Cardiac_arrhythmia\x2cCardiac_arrhythmia;CLNACC=RCV000181727.1,RCV000181832.1;CLNDSDB=MedGen:OMIM\x2cMedGen:OMIM;CLNDSDBID=CN029864:115000\x2cCN029864:115000	.	0.868771	0.8819	0.772165	0.6905	0.6658	0.9048	0.882848304747	0.873798379808	.	.	.	.	.	.	.	.	-1.069	-0.296	.	.	AC=39;AN=46;BQB=0.862553;DP4=146,94,581,507;DP=1873;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951437;SF=0,1,2,3,4,5,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.0159917	GT:DP:DV:PL	0/1:64:32:255,0,255	1/1:53:53:255,160,0	1/1:68:68:255,205,0	1/1:60:60:255,181,0	1/1:42:42:255,126,0	0/1:72:33:255,0,255	.	1/1:69:69:255,208,0	1/1:59:59:255,178,0	0/1:36:21:255,0,255	1/1:73:73:255,220,0	0/1:58:30:255,0,255	1/1:51:51:255,154,0	0/1:104:42:255,0,255	1/1:67:67:255,202,0	1/1:46:46:255,138,0	.	1/1:56:56:255,169,0	1/1:55:55:255,166,0	1/1:59:59:255,178,0	0/1:62:22:255,0,255	1/1:60:60:255,181,0	1/1:24:24:255,72,0	0/1:54:30:255,0,255	1/1:36:36:255,108,0	A	G	16	7	Long QT syndrome 2, 613688 (3); {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3); Short QT syndrome 1, 609620 (3)	.	Long QT syndrome(CD097476)	CCCTC^651ATGTAtGCTAGCATCT|c.1956delT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19716085&dopt=Abstract)	19716085|21536673|21240260|20075256|19412172|19306396|19070294|18551196|17344217|17060380|16922724|16361248|15840476|15828882|15760896|15051636|14676148|12925462|12775586|12621127|12612061|12354768|12021266|11997281|11854117|11173780|11170080|10996323|10973849|10753933|10735633|10220144|10086971|10086971|9927399|9753711|9694858|9693036|9600240|9544837|9024139|8995352|8914737|8635257|8587608|8587597|8578588|8159766|7889573|7736582|7604285	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;REGULATION_OF_HEART_CONTRACTION;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ION_TRANSPORT;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;DELAYED_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	PS1,PS3,BA1
L	7	150696111	rs1799983	T	G	227.52	PASS	NOS3	nitric oxide synthase 3 (endothelial cell)	exonic	NM_000603,NM_001160109,NM_001160110,NM_001160111	.	missense SNV	NOS3:NM_001160109:exon7:c.T894G:p.D298E,NOS3:NM_001160110:exon7:c.T894G:p.D298E,NOS3:NM_001160111:exon7:c.T894G:p.D298E,NOS3:NM_000603:exon8:c.T894G:p.D298E	ENST00000461406.1,ENST00000467517.1,ENST00000297494.3,ENST00000484524.1	.	7q36.1	.	.	Score=929;Name=V$ZIC3_01	.	.	rs1799983	CLINSIG=other|other|other|Pathogenic|other|other;CLNDBN=Coronary_artery_spasm_1\x2c_susceptibility_to|Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to|Hypertension\x2c_pregnancy-induced\x2c_susceptibility_to|Hypertension_resistant_to_conventional_therapy|Ischemic_heart_disease\x2c_susceptibility_to|Ischemic_stroke\x2c_susceptibility_to;CLNACC=RCV000015053.3|RCV000015054.3|RCV000015055.3|RCV000015056.26|RCV000015057.3|RCV000015058.3;CLNDSDB=MedGen|MedGen|MedGen|MedGen|.|.;CLNDSDBID=C3149657|C1834153|C1834154|C1834155|.|.	.	0.862126	0.87	0.823682	0.7466	0.7530	0.8966	0.87442551608	0.872595975962	1.0,T	0.001,B	0.0,B	0.999969,P	0.000676,N	.	2.12,T	0.7114	0.032	-0.369	.	.	AC=48;AN=50;BQB=0.468359;DP4=80,21,1422,513;DP=2788;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.350247;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.328617	GT:DP:DV:PL	1/1:71:71:255,214,0	0/1:54:25:255,0,255	1/1:87:87:255,255,0	1/1:61:61:255,184,0	1/1:52:52:255,157,0	1/1:155:155:255,255,0	1/1:76:75:255,193,0	1/1:62:62:255,187,0	1/1:73:73:255,220,0	1/1:50:50:255,151,0	1/1:87:87:255,255,0	1/1:59:59:255,178,0	1/1:80:80:255,241,0	1/1:90:90:255,255,0	1/1:97:97:255,255,0	1/1:60:60:255,181,0	1/1:87:87:255,255,0	1/1:51:51:255,154,0	1/1:57:57:255,172,0	1/1:73:72:255,160,0	1/1:81:81:255,244,0	0/1:154:84:255,0,255	1/1:51:51:255,154,0	1/1:141:141:255,255,0	1/1:127:127:255,255,0	T	G	23	2	{Coronary artery spasm 1, susceptibility to} (3); {Alzheimer disease, late-onset, susceptibility to}, 104300 (3); {Hypertension, susceptibility to}, 145500 (3); {Hypertension, pregnancy-induced}, 189800 (3); {Placental abruption} (3); {Ischemic stroke, susceptibility to}, 601367 (3)	.	Coronary spasm, association with(CM981388)	GAG-GAT|Glu298Asp|c.894G>T|p.E298D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9737779&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19435423&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21706163&dopt=Abstract)	9737779|19435423|21706163|23123858|21179168|18344980|17502619|17403686|17165044|16813604|16224023|16142243|16059745|15845030|15775780|15647265|15626780|15356068|15234981|15184671|15007011|14645200|14556003|12574632|12121349|11907582|11823442|11745998|11692081|11473956|11394896|11354626|11063722|11026457|10852470|10514107|10510054|10500231|10475066|10376603|10376602|10359729|9915975|9894802|9875848|9854041|9737779|9616218|9316519|9311740|9084930|9060792|8564837|8238200|7688726|7545787|7545786|7539311|7528648|7514568|7200405|6297832|6253831|1379542|1378832	.	CYTOPLASM	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_VEGF_SIGNALING_PATHWAY	PID_ER_NONGENOMIC_PATHWAY;PID_FRA_PATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_TXA2PATHWAY;PID_SHP2_PATHWAY;PID_VEGFR1_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_THROMBIN_PAR1_PATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_HIF_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_TETRAHYDROBIOPTERIN_BH4_SYNTHESIS_RECYCLING_SALVAGE_AND_REGULATION;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_ENOS_ACTIVATION_AND_REGULATION;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	8	1833801	rs9657362	G	C	187.55	PASS	ARHGEF10	Rho guanine nucleotide exchange factor (GEF) 10	exonic	NM_001308152,NM_001308153,NM_014629	.	missense SNV	ARHGEF10:NM_001308152:exon10:c.G996C:p.L332F,ARHGEF10:NM_014629:exon11:c.G1110C:p.L370F,ARHGEF10:NM_001308153:exon12:c.G1185C:p.L395F	ENST00000518288.1,ENST00000520359.1,ENST00000262112.6,ENST00000398560.1,ENST00000349830.3,ENST00000398564.1	.	8p23.3	.	.	.	.	.	rs9657362	.	.	0.295681	0.2907	0.168331	0.1081	0.1594	0.2911	0.281776191424	0.300480591346	0.024,D	0.894,P	0.979,D	0.917514,P	0.070730,N	2.47,M	-0.17,T	8.8816	-1.240	0.684	.	.	AC=13;AN=22;BQB=0.636257;DP4=100,12,120,18;DP=342;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.690645;SF=1,2,5,8,10,12,13,16,17,18,20;SGB=-0.636426;VDB=0.111073	GT:DP:DV:PL	.	0/1:18:7:156,0,255	1/1:18:18:255,54,0	.	.	0/1:32:14:255,0,255	.	.	0/1:19:12:197,0,160	.	1/1:22:22:255,66,0	.	0/1:18:8:189,0,230	0/1:21:11:255,0,234	.	.	0/1:27:15:255,0,241	0/1:20:11:194,0,221	0/1:31:14:255,0,255	.	0/1:24:6:149,0,255	.	.	.	.	G	C	2	9	?Slowed nerve conduction velocity, AD, 608236 (3)	.	Peripheral neuropathy, chemotherapy-induced, protection against, association with(CM1411248)	TTG-TTC|Leu370Phe|c.1110G>C|p.L370F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25164601&dopt=Abstract)	25164601|25025039|21719701|14508709|9678704|9205841	.	.	.	.	PID_RHOA_REG_PATHWAY	BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_PAR1_PATHWAY	.	PS1,PS3,BA1
L	8	6479042	rs1057090	C	T	225.75	PASS	MCPH1	microcephalin 1	exonic	NM_024596	.	missense SNV	MCPH1:NM_024596:exon13:c.C2282T:p.A761V	ENST00000344683.5,ENST00000521175.1,ENST00000522897.1,ENST00000515608.1	.	8p23.1	.	.	.	.	.	rs1057090	CLINSIG=Benign\x2cBenign\x2cBenign|Benign;CLNDBN=not_specified\x2cnot_specified\x2cPrimary_autosomal_recessive_microcephaly_1|not_specified;CLNACC=RCV000146303.1,RCV000146304.1,RCV000020900.1|RCV000146305.4;CLNDSDB=MedGen\x2cMedGen\x2cMedGen:OMIM:ORPHA|MedGen;CLNDSDBID=CN169374\x2cCN169374\x2cC1855081:251200:52183|CN169374	.	0.656146	0.6716	0.482029	0.4098	0.4362	0.6661	0.577335194487	0.6430288125	1.0,T	.	.	1,P	0.016817,N	.	-2.34,D	8.9087	-1.782	-0.677	.	.	AC=39;AN=48;BQB=0.33197;DP4=312,99,1282,368;DP=2846;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.739627;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.300123	GT:DP:DV:PL	1/1:82:82:255,247,0	0/1:87:39:255,0,255	1/1:90:90:255,255,0	1/1:77:77:255,232,0	0/1:82:30:255,0,255	1/1:148:148:255,255,0	1/1:65:65:255,196,0	0/1:80:34:255,0,255	.	0/1:45:24:255,0,255	0/1:78:39:255,0,255	1/1:67:67:255,202,0	1/1:78:78:255,235,0	1/1:92:92:255,255,0	0/1:69:33:255,0,255	1/1:72:72:255,217,0	1/1:84:84:255,253,0	1/1:53:53:255,160,0	1/1:59:59:255,178,0	0/1:88:33:255,0,255	0/1:96:46:255,0,255	1/1:152:152:255,255,0	1/1:37:37:255,111,0	1/1:135:135:255,255,0	0/1:145:81:255,0,255	C	T	15	9	Microcephaly 1, primary, autosomal recessive, 251200 (3)	.	Cranial volume, association with(CM081694)	GCG-GTG|Ala761Val|c.2282C>T|p.A761V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18204051&dopt=Abstract)	18204051|20978018|20101680|19267414|17220170|16840683|16840683|16783362|16311745|16217032|16151009|15620360|15220350|15199523|15056608|15056607|12046007|11857108|7693575	.	.	.	.	.	.	.	PS1,PS3,BA1
L	8	17500119	rs17633132	C	T	87.31	PASS	PDGFRL	platelet-derived growth factor receptor-like	splicing	NM_006207	NM_006207:exon7:c.940-3C>T	.	.	ENST00000398074.3,ENST00000523248.1,ENST00000541323.1,ENST00000251630.6	.	8p22	.	.	.	.	.	rs17633132	.	.	0.119601	0.131	0.1248	0.0821	0.1030	0.1316	0.119601	0.114182454327	.	.	.	.	.	.	.	.	2.579	3.101	1.918026,15.70	5.16	AC=10;AN=20;BQB=0.716531;DP4=56,2,46,2;DP=123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994805;SF=0,3,4,9,13,14,15,18,20,21;SGB=-0.511536;VDB=0.154358	GT:DP:DV:PL	0/1:11:3:66,0,141	.	.	0/1:10:5:130,0,107	0/1:10:3:66,0,133	.	.	.	.	0/1:6:4:121,0,50	.	.	.	0/1:9:5:109,0,114	0/1:8:5:134,0,71	0/1:16:7:166,0,191	.	.	0/1:13:6:135,0,152	.	0/1:13:7:171,0,159	0/1:10:3:108,0,156	.	.	.	C	T	0	10	Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer, somatic, 114500 (3)	.	Behcet disease, association with(CR130135)	CTTGCTTCAGTCTTTGTGGGTGTCGTTAAA(C-T)AGGATGAAAGGCCTGTGACGATCCAAGACA 65358 relative to initiation codon(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22926996&dopt=Abstract)	22926996|7898930|7519877	.	.	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	PS1,PS3,BA1
L	8	18257795	rs1041983	C	T	221.55	PASS	NAT2	N-acetyltransferase 2 (arylamine N-acetyltransferase)	exonic	NM_000015	.	synonymous SNV	NAT2:NM_000015:exon2:c.C282T:p.Y94Y	ENST00000520116.1,ENST00000286479.3	.	8p22	.	.	.	.	.	rs1041983	.	.	0.435216	0.4395	0.397364	0.3574	0.3449	0.4112	0.416538977029	0.413461649038	.	.	.	.	.	.	.	.	0.448	-0.005	.	.	AC=26;AN=40;BQB=0.64118;DP4=232,127,449,211;DP=1327;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.94327;SF=0,1,3,4,5,6,8,10,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.692067;VDB=0.811963	GT:DP:DV:PL	0/1:44:20:255,0,255	0/1:49:20:255,0,255	.	0/1:56:29:255,0,255	1/1:64:64:255,190,0	1/1:57:56:255,112,0	0/1:46:21:255,0,255	.	0/1:64:33:255,0,255	.	1/1:48:48:255,144,0	.	0/1:33:14:255,0,255	0/1:48:29:255,0,255	0/1:36:16:255,0,255	0/1:60:26:255,0,255	1/1:58:58:255,175,0	0/1:58:23:255,0,255	1/1:60:60:255,181,0	0/1:56:30:255,0,255	1/1:46:46:255,138,0	0/1:51:25:255,0,255	0/1:29:9:211,0,255	.	0/1:56:33:255,0,255	C	T	6	14	[Acetylation, slow], 243400 (3)	.	Slow acetylation(CM001251)	TAC-TAT|Tyr94Tyr|c.282C>T|p.Y94Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9110365&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23278115&dopt=Abstract)	9110365|23278115|18334921|18160997|18043717|16416399|14082046|12888564|12654968|12540910|12351146|10667461|9918135|9156695|8807666|8460648|8110178|8102908|8102597|7920692|7773298|7668286|6976963|6970808|6951172|6721992|3815349|3802387|3778197|3209851|2594784|2340091|2068113|1968463|1427770	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	8	18258103	rs1799930	G	A	217.83	PASS	NAT2	N-acetyltransferase 2 (arylamine N-acetyltransferase)	exonic	NM_000015	.	missense SNV	NAT2:NM_000015:exon2:c.G590A:p.R197Q	ENST00000520116.1,ENST00000286479.3	.	8p22	.	.	.	.	.	rs1799930	CLINSIG=drug response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNACC=RCV000000758.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005	.	0.225914	0.256	0.264976	0.2820	0.2773	0.2501	0.234303243492	0.224759853365	0.054,T	0.991,D	1.0,D	0.00156181,P	0.000041,D	3.08,M	4.43,T	8.6215	1.706	1.292	5.196621,25.5	2.51	AC=15;AN=24;BQB=0.668516;DP4=70,52,137,86;DP=445;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994754;SF=1,5,12,13,14,15,16,18,20,21,22,24;SGB=-0.683931;VDB=0.323571	GT:DP:DV:PL	.	0/1:26:13:255,0,255	.	.	.	0/1:27:12:255,0,255	.	.	.	.	.	.	0/1:19:11:255,0,158	0/1:18:11:255,0,176	0/1:19:10:255,0,252	0/1:41:20:255,0,255	1/1:36:36:255,108,0	.	1/1:24:24:255,72,0	.	1/1:40:40:255,120,0	0/1:46:25:255,0,255	0/1:14:6:187,0,255	.	0/1:35:15:255,0,255	G	A	3	9	[Acetylation, slow], 243400 (3)	.	Atopic asthma, association with(CM910270)	CGA-CAA|Arg197Gln|c.590G>A|p.R197Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19608015&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16570281&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20871037&dopt=Abstract)	19608015|16570281|20871037|18334921|18160997|18043717|16416399|14082046|12888564|12654968|12540910|12351146|10667461|9918135|9156695|8807666|8460648|8110178|8102908|8102597|7920692|7773298|7668286|6976963|6970808|6951172|6721992|3815349|3802387|3778197|3209851|2594784|2340091|2068113|1968463|1427770	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	8	18258316	rs1208	G	A	225.08	PASS	NAT2	N-acetyltransferase 2 (arylamine N-acetyltransferase)	exonic	NM_000015	.	missense SNV	NAT2:NM_000015:exon2:c.G803A:p.R268K	ENST00000520116.1,ENST00000286479.3	.	8p22	.	.	.	.	.	rs1208	CLINSIG=drug response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNACC=RCV000000760.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005	Insulin resistance/response	0.960133	0.9603	0.677117	0.5842	0.6172	0.9598	0.959418218989	0.957932795673	1.0,T	0.002,B	0.0,B	1,P	0.105043,N	.	4.7,T	4.6966	0.047	0.589	.	.	AC=49;AN=50;BQB=0.999167;DP4=4,5,150,227;DP=491;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959989;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=0.174806	GT:DP:DV:PL	1/1:21:21:255,63,0	1/1:15:15:255,45,0	1/1:9:9:255,27,0	1/1:15:15:255,45,0	1/1:19:19:255,57,0	1/1:11:11:255,33,0	1/1:17:17:255,51,0	1/1:14:14:255,42,0	1/1:17:17:255,51,0	1/1:14:14:255,42,0	1/1:24:24:255,72,0	1/1:15:15:255,45,0	1/1:7:7:220,21,0	1/1:14:14:255,42,0	1/1:14:14:255,42,0	1/1:9:9:255,27,0	1/1:27:27:255,81,0	1/1:10:10:255,30,0	1/1:19:19:255,57,0	1/1:14:14:255,42,0	1/1:12:12:255,36,0	0/1:19:10:223,0,222	1/1:11:11:255,33,0	1/1:14:14:255,42,0	1/1:25:25:255,75,0	G	A	24	1	[Acetylation, slow], 243400 (3)	.	Atopic asthma, association with(CM910271)	AAA-AGA|Lys268Arg|c.803A>G|p.K268R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19608015&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25798622&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2068113&dopt=Abstract)	19608015|25798622|2068113|18334921|18160997|18043717|16416399|14082046|12888564|12654968|12540910|12351146|10667461|9918135|9156695|8807666|8460648|8110178|8102908|8102597|7920692|7773298|7668286|6976963|6970808|6951172|6721992|3815349|3802387|3778197|3209851|2594784|2340091|2068113|1968463|1427770	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	8	22021037	rs4715	C	A	212.07	PASS	SFTPC	surfactant protein C	exonic	NM_001172357,NM_001172410,NM_003018	.	missense SNV	SFTPC:NM_001172357:exon4:c.C413A:p.T138N,SFTPC:NM_001172410:exon4:c.C413A:p.T138N,SFTPC:NM_003018:exon4:c.C413A:p.T138N	ENST00000520605.1,ENST00000437090.2,ENST00000521315.1,ENST00000522109.1,ENST00000318561.3,ENST00000524255.1	.	8p21.3	.	.	.	.	.	rs4715	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000151856.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.289037	0.2688	0.197484	0.2068	0.2523	0.2825	0.307044522205	0.294471579327	0.03,D	0.761,P	0.949,P	0.999982,P	0.148061,N	.	-1.3,T	7.5391	0.200	0.920	3.781487,23.4	2.47	AC=16;AN=28;BQB=0.974658;DP4=179,92,201,101;DP=817;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960687;SF=0,1,2,3,5,7,8,9,10,13,16,20,22,24;SGB=-0.688148;VDB=0.269663	GT:DP:DV:PL	0/1:32:15:255,0,255	1/1:31:31:255,93,0	0/1:34:17:255,0,255	0/1:48:29:255,0,255	.	0/1:71:41:255,0,255	.	0/1:41:20:255,0,255	1/1:34:34:255,102,0	0/1:31:15:255,0,255	0/1:39:13:255,0,255	.	.	0/1:56:22:255,0,255	.	.	0/1:40:14:255,0,255	.	.	.	0/1:45:25:255,0,255	.	0/1:16:4:106,0,255	.	0/1:55:22:255,0,255	C	A	2	12	Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)	.	Perinatal respiratory disease, association with(CM040798)	AAT-ACT|Asn138Thr|c.413A>C|p.N138T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14735158&dopt=Abstract)	14735158|19443464|15927881|15647591|15572558|15557112|15293602|15039969|14735158|13817571|12538769|12519727|12501227|11991887|11893657|11344267|11207353|7713515|5942662|3479771|3335510|2839484|1346779	.	.	.	.	.	.	.	PS1,PS3,BA1
L	8	22021517	rs1124	G	A	192.19	PASS	SFTPC	surfactant protein C	exonic	NM_001172357,NM_001172410,NM_003018	.	missense SNV	SFTPC:NM_001172357:exon5:c.G539A:p.S180N,SFTPC:NM_001172410:exon5:c.G557A:p.S186N,SFTPC:NM_003018:exon5:c.G557A:p.S186N	ENST00000520605.1,ENST00000437090.2,ENST00000521315.1,ENST00000522109.1,ENST00000318561.3,ENST00000524255.1	.	8p21.3	.	.	.	.	.	rs1124	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000151858.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.313953	0.3006	0.236022	0.2594	0.3001	0.3265	0.313953	0.324518901442	0.416,T	0.004,B	0.004,B	8.12255e-13,P	0.245165,N	.	-1.24,T	5.3591	0.695	0.610	1.183812,11.66	2.33	AC=18;AN=32;BQB=0.809155;DP4=42,105,54,129;DP=389;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986852;SF=0,1,2,3,5,7,8,9,10,11,13,16,20,21,22,24;SGB=-0.670168;VDB=0.0015167	GT:DP:DV:PL	0/1:16:10:255,0,110	1/1:12:12:255,36,0	0/1:19:6:157,0,255	0/1:29:16:223,0,203	.	0/1:19:9:255,0,255	.	0/1:24:8:179,0,255	1/1:17:17:255,51,0	0/1:15:7:149,0,163	0/1:17:11:245,0,148	0/1:12:7:175,0,170	.	0/1:27:15:255,0,255	.	.	0/1:29:13:244,0,255	.	.	.	0/1:20:13:255,0,132	0/1:37:20:255,0,255	0/1:15:10:240,0,120	.	0/1:22:9:198,0,255	G	A	2	14	Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)	.	Perinatal respiratory disease, association with(CM040800)	AAC-AGC|Asn186Ser|c.557A>G|p.N186S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14735158&dopt=Abstract)	14735158|19443464|15927881|15647591|15572558|15557112|15293602|15039969|14735158|13817571|12538769|12519727|12501227|11991887|11893657|11344267|11207353|7713515|5942662|3479771|3335510|2839484|1346779	.	.	.	.	.	.	.	PS1,PS3,BA1
L	8	27324822	rs891398	T	C	224.25	PASS	CHRNA2	cholinergic receptor, nicotinic, alpha 2 (neuronal)	exonic	NM_000742,NM_001282455	.	missense SNV	CHRNA2:NM_000742:exon5:c.A373G:p.T125A,CHRNA2:NM_001282455:exon5:c.A328G:p.T110A	ENST00000407991.1,ENST00000520933.2,ENST00000240132.2	.	8p21.2	.	.	.	.	.	rs891398	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000116712.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.642857	0.6498	0.610224	0.5801	0.5311	0.6506	0.641653839204	0.616586411058	0.808,T	0.0,B	0.0,B	1,P	0.001824,N	-1.09,N	-1.17,T	5.715	1.342	0.599	.	3.46	AC=33;AN=48;BQB=0.988223;DP4=221,155,411,333;DP=1515;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.646156;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.254772	GT:DP:DV:PL	1/1:39:39:255,117,0	1/1:41:41:255,123,0	0/1:46:22:255,0,255	1/1:39:39:255,117,0	0/1:48:29:255,0,255	1/1:51:51:255,154,0	0/1:50:18:255,0,255	0/1:61:24:255,0,255	0/1:55:32:255,0,255	.	1/1:52:52:255,157,0	1/1:29:29:255,87,0	1/1:32:31:255,59,0	0/1:63:28:255,0,255	0/1:55:32:255,0,255	0/1:35:21:255,0,255	0/1:48:23:255,0,255	0/1:45:24:255,0,255	0/1:41:18:255,0,255	0/1:47:31:255,0,255	0/1:45:19:255,0,255	1/1:61:61:255,184,0	1/1:30:30:255,90,0	0/1:58:24:255,0,255	0/1:49:26:255,0,255	T	C	9	15	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)	.	Nicotine dependence, association with(CM144682)	ACT-GCT|Thr125Ala|c.373A>G|p.T125A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24253422&dopt=Abstract)	24253422|16826524|15620360|8906617|2338144|1505988	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;NICOTINIC_ACETYLCHOLINE_GATED_RECEPTOR_CHANNEL_COMPLEX;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;EXCITATORY_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;ACETYLCHOLINE_BINDING;EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;AMINE_BINDING;NICOTINIC_ACETYLCHOLINE_ACTIVATED_CATION_SELECTIVE_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_ACETYLCHOLINE_BINDING_AND_DOWNSTREAM_EVENTS;REACTOME_HIGHLY_CALCIUM_PERMEABLE_POSTSYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS;REACTOME_PRESYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS	PS1,PS3,BA1
L	8	27328511	rs2472553	G	A	223.5	PASS	CHRNA2	cholinergic receptor, nicotinic, alpha 2 (neuronal)	exonic	NM_000742,NM_001282455	.	missense SNV	CHRNA2:NM_000742:exon2:c.C65T:p.T22I,CHRNA2:NM_001282455:exon2:c.C65T:p.T22I	ENST00000407991.1,ENST00000520933.2,ENST00000240132.2	.	8p21.2	.	.	.	.	.	rs2472553	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000116713.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.425249	0.4325	0.221046	0.1488	0.1647	0.4493	0.453292565084	0.421874745192	0.788,T	0.0,B	0.0,B	1,P	0.000552,N	0,N	0.51,T	5.1178	-0.388	0.305	.	.	AC=25;AN=40;BQB=0.997017;DP4=358,150,555,220;DP=1825;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.596908;SF=0,1,2,3,4,5,6,7,8,10,11,14,16,17,18,20,21,22,23,24;SGB=-0.693143;VDB=0.07822	GT:DP:DV:PL	0/1:73:38:255,0,255	0/1:59:20:255,0,255	0/1:66:33:255,0,255	0/1:69:31:255,0,255	0/1:53:25:255,0,255	1/1:68:68:255,205,0	0/1:64:28:255,0,255	0/1:65:35:255,0,255	0/1:60:29:255,0,255	.	1/1:64:64:255,193,0	1/1:64:64:255,193,0	.	.	0/1:64:32:255,0,255	.	0/1:64:32:255,0,255	0/1:51:25:255,0,255	0/1:47:25:255,0,255	.	0/1:59:27:255,0,255	1/1:84:84:255,253,0	1/1:32:32:255,96,0	0/1:96:42:255,0,255	0/1:81:41:255,0,255	G	A	5	15	Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)	.	Nicotine dependence, association with(CM0911425)	ACC-ATC|Thr22Ile|c.65C>T|p.T22I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19307444&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24467848&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24253422&dopt=Abstract)	19307444|24467848|24253422|16826524|15620360|8906617|2338144|1505988	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;NICOTINIC_ACETYLCHOLINE_GATED_RECEPTOR_CHANNEL_COMPLEX;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;EXCITATORY_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;ACETYLCHOLINE_BINDING;EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;AMINE_BINDING;NICOTINIC_ACETYLCHOLINE_ACTIVATED_CATION_SELECTIVE_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_ACETYLCHOLINE_BINDING_AND_DOWNSTREAM_EVENTS;REACTOME_HIGHLY_CALCIUM_PERMEABLE_POSTSYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS;REACTOME_PRESYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS	PS1,PS3,BA1
L	8	30999280	rs1801195	G	T	193.59	PASS	WRN	Werner syndrome, RecQ helicase-like	exonic	NM_000553	.	missense SNV	WRN:NM_000553:exon26:c.G3222T:p.L1074F	ENST00000298139.5	.	8p12	.	.	.	.	.	rs1801195	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000118877.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.636213	0.6419	0.496006	0.4669	0.4492	0.6322	0.625574298622	0.637019382212	0.764,T	0.0,B	0.0,B	1,P	0.578231,N	-1.24,N	1.48,T	1.7751	0.093	0.032	.	.	AC=32;AN=44;BQB=0.393241;DP4=36,87,103,158;DP=495;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989343;SF=1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.686358;VDB=0.27967	GT:DP:DV:PL	.	1/1:14:14:255,42,0	.	1/1:18:18:255,54,0	0/1:17:10:255,0,132	0/1:29:13:255,0,255	1/1:5:5:219,15,0	1/1:17:17:255,51,0	1/1:19:19:255,57,0	1/1:24:24:255,72,0	1/1:18:18:255,54,0	0/1:19:8:219,0,255	0/1:18:9:225,0,237	1/1:13:13:255,39,0	0/1:14:3:87,0,247	0/1:14:7:194,0,237	0/1:17:7:235,0,252	0/1:15:4:111,0,255	0/1:22:11:255,0,237	.	1/1:10:10:255,30,0	0/1:31:19:255,0,255	0/1:16:5:119,0,255	1/1:20:20:255,60,0	0/1:14:7:205,0,127	G	T	10	12	Werner syndrome, 277700 (3)	.	Coronary stenosis, reduced risk, association with(CM004850)	TTT-TTG|Phe1074Leu|c.3222T>G|p.F1074L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11186893&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18312663&dopt=Abstract)	11186893|24728327|18312663|25931448|18806779|18337721|17563354|16723399|16673358|16339893|16195394|15591207|15282207|15235603|12827497|12351580|12181313|11919194|11027336|10835635|10783163|10781066|10757812|10678659|10628995|10615119|10535732|10440702|10220139|10189141|9789047|9771700|9697700|9671747|9618508|9450180|9428525|9288107|9271578|9241267|9225981|9143515|9048918|9012406|8968742|8602509|8037212|7569932	CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	DNA_HELICASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;HELICASE_ACTIVITY;3_5_EXONUCLEASE_ACTIVITY;EXONUCLEASE_ACTIVITY;NUCLEASE_ACTIVITY;DNA_BINDING	.	PID_TELOMERASEPATHWAY	.	.	PS1,PS3,BA1
L	8	53586706	rs17337252	A	G	224.75	PASS	RB1CC1	RB1-inducible coiled-coil 1	exonic	NM_001083617,NM_014781	.	missense SNV	RB1CC1:NM_001083617:exon7:c.T701C:p.M234T,RB1CC1:NM_014781:exon7:c.T701C:p.M234T	ENST00000025008.5,ENST00000521611.1,ENST00000435644.2,ENST00000539297.1	.	8q11.23	.	.	Score=872;Name=V$EVI1_04	.	.	rs17337252	.	.	0.835548	0.8393	0.502995	0.4100	0.5110	0.8329	0.827718290965	0.836538216346	0.575,T	0.0,B	0.0,B	0.962678,P	0.310238,N	-0.145,N	2.63,T	3.6785	0.976	2.354	.	2.99	AC=37;AN=48;BQB=0.943893;DP4=101,58,357,227;DP=994;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.904286;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.948293	GT:DP:DV:PL	0/1:40:18:255,0,255	1/1:29:29:255,87,0	0/1:33:17:255,0,255	1/1:43:43:255,129,0	1/1:20:20:255,60,0	0/1:28:15:255,0,240	0/1:30:11:243,0,255	1/1:26:26:255,78,0	0/1:40:24:255,0,255	.	1/1:28:28:255,84,0	1/1:38:38:255,114,0	1/1:21:21:255,63,0	0/1:24:14:255,0,231	0/1:28:14:255,0,255	1/1:36:36:255,108,0	1/1:36:36:255,108,0	1/1:32:32:255,96,0	0/1:28:16:255,0,253	0/1:35:17:255,0,255	1/1:34:34:255,102,0	1/1:33:33:255,99,0	0/1:16:10:255,0,182	0/1:36:23:255,0,255	1/1:29:29:255,87,0	A	G	13	11	Breast cancer, somatic, 114480 (3)	.	Leukemia, risk, association with(CM063091)	ATG-ACG|Met234Thr|c.701T>C|p.M234T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16574953&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16741161&dopt=Abstract)	16574953|16741161|22049074|20716775|19940130|17015619|16043512|12095676|12068296|11850849|7724523	.	.	.	.	PID_MTOR_4PATHWAY	.	.	PS1,PS3,BA1
L	8	55539057	rs444772	G	A	219.15	PASS	RP1	retinitis pigmentosa 1 (autosomal dominant)	exonic	NM_006269	.	missense SNV	RP1:NM_006269:exon4:c.G2615A:p.R872H	ENST00000220676.1	.	8q12.1	.	.	.	.	.	rs444772	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153847.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.445183	0.4415	0.272165	0.2366	0.2713	0.4381	0.428790473201	0.447115608173	0.031,D	0.042,B	0.239,B	0.999998,P	0.881013,N	0.345,N	0.95,T	8.4605	0.327	1.804	3.368350,22.9	.	AC=15;AN=26;BQB=0.998952;DP4=123,75,165,107;DP=626;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.675654;SF=0,2,3,7,9,12,14,18,19,20,21,23,24;SGB=-0.693127;VDB=0.815447	GT:DP:DV:PL	0/1:59:33:255,0,255	.	0/1:28:14:255,0,255	0/1:44:20:255,0,255	.	.	.	1/1:44:44:255,132,0	.	0/1:29:16:255,0,255	.	.	0/1:23:15:255,0,172	.	0/1:23:12:255,0,255	.	.	.	0/1:45:22:255,0,255	0/1:35:21:255,0,255	0/1:46:19:255,0,255	0/1:46:20:255,0,255	.	0/1:18:6:207,0,255	1/1:30:30:255,90,0	G	A	2	11	Retinitis pigmentosa 1, 180100 (3)	.	Retinitis pigmentosa(CM1312235)	CGT-CAT|Arg872His|c.2615G>A|p.R872H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24123792&dopt=Abstract)	24123792|20664799|16126734|15863674|12764676|11773008|10484783|10465120|10401003|10391212|10391211|9205110|8931712|1783394	DETECTION_OF_ABIOTIC_STIMULUS;DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;PHOTOTRANSDUCTION;RESPONSE_TO_LIGHT_STIMULUS;DETECTION_OF_STIMULUS;SENSORY_PERCEPTION;RESPONSE_TO_ABIOTIC_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_RADIATION;SYSTEM_PROCESS;DETECTION_OF_EXTERNAL_STIMULUS	.	.	.	.	.	.	PS1,PS3,BA1
L	8	55541450	rs446227	G	A	222.92	PASS	RP1	retinitis pigmentosa 1 (autosomal dominant)	exonic	NM_006269	.	missense SNV	RP1:NM_006269:exon4:c.G5008A:p.A1670T	ENST00000220676.1	.	8q12.1	.	.	.	.	.	rs446227	CLINSIG=Benign|Likely benign;CLNDBN=not_specified|not_provided;CLNACC=RCV000081371.4|RCV000132660.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.445183	0.4415	0.248203	0.2055	0.2532	0.4385	0.427259030628	0.445913637019	0.566,T	0.003,B	0.011,B	1,P	0.603645,N	1.5,L	2.15,T	1.8554	-0.379	0.010	.	.	AC=15;AN=26;BQB=0.97197;DP4=135,76,164,95;DP=623;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.883119;SF=0,2,3,7,9,12,14,18,19,20,21,23,24;SGB=-0.69168;VDB=0.285092	GT:DP:DV:PL	0/1:47:19:255,0,255	.	0/1:33:17:255,0,255	0/1:38:16:255,0,255	.	.	.	1/1:37:37:255,111,0	.	0/1:40:16:255,0,255	.	.	0/1:22:10:255,0,255	.	0/1:26:12:255,0,255	.	.	.	0/1:43:21:255,0,255	0/1:44:19:255,0,255	0/1:30:14:255,0,255	0/1:46:28:255,0,255	.	0/1:28:14:255,0,255	1/1:36:36:255,108,0	G	A	2	11	Retinitis pigmentosa 1, 180100 (3)	.	Retinitis pigmentosa(CM130735)	GCA-ACA|Ala1670Thr|c.5008G>A|p.A1670T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23105016&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11527933&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23991373&dopt=Abstract)	23105016|11527933|23991373|20664799|16126734|15863674|12764676|11773008|10484783|10465120|10401003|10391212|10391211|9205110|8931712|1783394	DETECTION_OF_ABIOTIC_STIMULUS;DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;PHOTOTRANSDUCTION;RESPONSE_TO_LIGHT_STIMULUS;DETECTION_OF_STIMULUS;SENSORY_PERCEPTION;RESPONSE_TO_ABIOTIC_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_RADIATION;SYSTEM_PROCESS;DETECTION_OF_EXTERNAL_STIMULUS	.	.	.	.	.	.	PS1,PS3,BA1
L	8	72111599	rs10103397	A	G	224.62	PASS	EYA1	EYA transcriptional coactivator and phosphatase 1	exonic	NM_000503,NM_001288574,NM_001288575,NM_172058,NM_172059,NM_172060	.	synonymous SNV	EYA1:NM_172059:exon16:c.T1650C:p.H550H,EYA1:NM_172060:exon16:c.T1656C:p.H552H,EYA1:NM_172058:exon17:c.T1755C:p.H585H,EYA1:NM_000503:exon18:c.T1755C:p.H585H,EYA1:NM_001288574:exon18:c.T1737C:p.H579H,EYA1:NM_001288575:exon18:c.T1389C:p.H463H	ENST00000419131.1,ENST00000388741.2,ENST00000340726.3,ENST00000388743.2,ENST00000303824.7,ENST00000388740.3,ENST00000521685.1,ENST00000388742.4	.	8q13.3	.	.	.	.	.	rs10103397	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000041393.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.760797	0.7688	0.476637	0.3196	0.3958	0.7836	0.751913986217	0.759615209135	.	.	.	.	.	.	.	.	-4.022	-0.437	.	.	AC=40;AN=48;BQB=0.265164;DP4=157,21,634,103;DP=1191;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.476071;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.690438;VDB=0.196638	GT:DP:DV:PL	0/1:38:17:225,0,255	0/1:34:16:255,0,255	1/1:34:34:255,102,0	1/1:32:32:255,96,0	0/1:35:17:252,0,255	1/1:49:49:255,148,0	1/1:43:43:255,129,0	1/1:33:33:255,96,0	1/1:32:32:255,96,0	0/1:40:17:255,0,255	1/1:33:33:255,99,0	0/1:39:18:255,0,255	.	0/1:40:16:255,0,255	0/1:36:14:255,0,255	1/1:45:45:255,135,0	1/1:41:41:255,123,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	1/1:48:48:255,144,0	1/1:28:28:255,84,0	0/1:58:27:255,0,255	1/1:18:18:255,54,0	1/1:44:44:255,132,0	1/1:47:47:255,141,0	A	G	16	8	Branchiootorenal syndrome 1, with or without cataracts, 113650 (3); Anterior segment anomalies with or without cataract, 113650 (3); Branchiootic syndrome 1, 602588 (3); ?Otofaciocervical syndrome, 166780 (3)	.	Branchio-oto-renal syndrome(CI111896)	CCCTG^584CACCAaTGCCTTGGAA|c.1754dupA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21280147&dopt=Abstract)	21280147|21280147|19234442|19206155|18220287|18177466|16990542|16691597|16441263|15493068|15479196|15226428|15146463|14628053|14628052|14628042|14517553|12404110|11734542|11703923|11409867|10991693|10655545|10471511|10072433|9603436|9361030|9359046|9342347|9020840|9006082|5365063|2773990	ANATOMICAL_STRUCTURE_MORPHOGENESIS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	8	87679303	rs6471482	A	C	224	PASS	CNGB3	cyclic nucleotide gated channel beta 3	exonic	NM_019098	.	missense SNV	CNGB3:NM_019098:exon6:c.T702G:p.C234W	ENST00000320005.5	.	8q21.3	.	.	.	.	.	rs6471482	.	.	1	0.999	0.957468	0.8786	0.8946	0.9999	0.996937114855	0.998798028846	1.0,T	0.0,B	0.0,B	0.00152526,P	0.000000,N	-3.35,N	2.98,T	15.9847	1.359	4.935	1.842083,15.24	5.55	AC=50;AN=50;DP4=0,0,243,117;DP=510;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.107119	GT:DP:DV:PL	1/1:15:15:255,45,0	1/1:9:9:255,27,0	1/1:7:7:237,21,0	1/1:17:17:255,51,0	1/1:17:17:255,51,0	1/1:21:21:255,63,0	1/1:20:20:255,60,0	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:16:16:255,48,0	1/1:15:15:255,45,0	1/1:13:13:255,39,0	1/1:12:12:255,36,0	1/1:16:16:255,48,0	1/1:6:6:227,18,0	1/1:13:13:255,39,0	1/1:14:14:255,42,0	1/1:16:16:255,48,0	1/1:16:16:255,48,0	1/1:20:20:255,60,0	1/1:16:16:255,48,0	1/1:13:13:255,39,0	1/1:6:6:202,18,0	1/1:17:17:255,51,0	1/1:12:12:255,36,0	A	C	25	0	Achromatopsia-3, 262300 (3); Macular degeneration, juvenile, 248200 (3)	.	Decreased ligand sensitivity(CM157070)	TGG-TGT|Trp234Cys|c.702G>T|p.W234C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26106334&dopt=Abstract)	26106334|19767295|17265047|15712225|15657609|12432397|12357335|12140185|10958649|10888875|1347967	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	.	.	PID_CONE_PATHWAY	.	.	PS1,PS3,BA1
L	8	118184783	rs13266634	C	T	199.35	PASS	SLC30A8	solute carrier family 30 (zinc transporter), member 8	exonic	NM_001172811,NM_001172813,NM_001172814,NM_001172815,NM_173851	.	missense SNV	SLC30A8:NM_173851:exon8:c.C973T:p.R325W,SLC30A8:NM_001172814:exon9:c.C826T:p.R276W,SLC30A8:NM_001172811:exon10:c.C826T:p.R276W,SLC30A8:NM_001172813:exon11:c.C826T:p.R276W,SLC30A8:NM_001172815:exon11:c.C826T:p.R276W	ENST00000456015.2,ENST00000521243.1,ENST00000427715.2,ENST00000519688.1	.	8q24.11	.	.	.	.	.	rs13266634	CLINSIG=other;CLNDBN=DIABETES_MELLITUS\x2c_TYPE_2\x2c_SUSCEPTIBILITY_TO;CLNACC=RCV000001055.3;CLNDSDB=.;CLNDSDBID=.	Glycated hemoglobin levels,Type 2 diabetes and other traits,Type 2 diabetes	0.458472	0.4573	0.255192	0.2299	0.2849	0.4348	0.458472	0.445913502404	0.044,D	0.001,B	0.002,B	0.999988,P	0.733902,N	1.7,L	-0.14,T	0.8731	-0.224	-0.404	3.639843,23.2	.	AC=27;AN=40;BQB=0.685489;DP4=140,16,296,36;DP=613;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.135657;SF=0,3,4,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.0473016	GT:DP:DV:PL	1/1:24:24:255,72,0	.	.	0/1:24:11:226,0,243	0/1:32:13:255,0,218	.	0/1:21:11:190,0,211	0/1:17:10:234,0,201	0/1:32:20:255,0,185	.	0/1:26:11:183,0,233	1/1:26:26:255,78,0	1/1:17:17:255,48,0	1/1:31:31:255,93,0	0/1:16:9:202,0,147	0/1:24:11:244,0,255	.	0/1:32:16:228,0,255	1/1:26:26:255,78,0	0/1:15:7:169,0,244	0/1:24:13:255,0,222	1/1:31:31:255,93,0	0/1:14:6:167,0,203	0/1:29:12:212,0,255	1/1:27:27:255,81,0	C	T	7	13	{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)	24647736(2E-7);23945395(5E-7);19734900(8E-8);19401414(2E-14);19096518(5E-8);19056611(7E-6);17463249(5E-8);17463248(5E-8);17463246(5E-8);17460697(3E-6);17293876(6E-8)	Diabetes, type 2, association with(CM072050)	TGG-CGG|Trp325Arg|c.973T>C|p.W325R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17293876&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20138556&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20424228&dopt=Abstract)	17293876|20138556|20424228|24584071|17942684|17463249|17463248|17463246|17460697|17293876|15331542|15154973	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_ZINC_TRANSPORTERS;REACTOME_METAL_ION_SLC_TRANSPORTERS	PS1,PS3,BA1
L	8	119964052	rs2073618	G	C	226.09	PASS	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	exonic	NM_002546	.	missense SNV	TNFRSF11B:NM_002546:exon1:c.C9G:p.N3K	ENST00000297350.4	CpG: 24	8q24.12	.	.	.	.	.	rs2073618	.	.	0.754153	0.7609	0.666733	0.5889	0.6024	0.7680	0.737365888208	0.746394370192	1.0,T	0.0,B	0.0,B	0.999999,P	0.199355,N	-1.87,N	-0.58,T	11.9629	1.474	0.645	1.964036,15.99	5.26	AC=37;AN=44;BQB=0.998089;DP4=237,82,1013,353;DP=2347;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.721317;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0172057	GT:DP:DV:PL	1/1:65:65:255,196,0	1/1:83:83:255,250,0	1/1:70:70:255,211,0	1/1:69:69:255,208,0	1/1:64:64:255,193,0	0/1:138:65:255,0,255	0/1:66:37:255,0,255	1/1:59:59:255,178,0	0/1:53:25:255,0,255	1/1:28:28:255,84,0	.	1/1:73:73:255,220,0	1/1:52:52:255,157,0	1/1:65:65:255,196,0	1/1:79:79:255,238,0	.	1/1:72:72:255,217,0	1/1:52:52:255,157,0	.	0/1:82:36:255,0,255	1/1:64:64:255,193,0	1/1:160:160:255,255,0	0/1:37:17:255,0,255	0/1:115:71:255,0,255	0/1:139:60:255,0,255	G	C	15	7	Paget disease of bone 5, juvenile-onset, 239000 (3)	.	Osteoporotic fractures, association with(CM045665)	AAC-AAG|Asn3Lys|c.9C>G|p.N3K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12096838&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22965192&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15312251&dopt=Abstract)	12096838|22965192|15312251|25108083|22664871|18445777|16135836|15292302|15117849|14672344|12970288|12915674|12213850|12189164|12181640|12124412|12124406|12054556|11739154|10580503|9688283|9647741|9573043|9492069|9434163|9168977|9108485	SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION	RECEPTOR_BINDING;RECEPTOR_ACTIVITY;CYTOKINE_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION	.	.	.	PS1,PS3,BA1
L	8	133984058	rs2076740	C	T	210.6	PASS	TG	thyroglobulin	exonic	NM_003235	.	missense SNV	TG:NM_003235:exon33:c.C5995T:p.R1999W	ENST00000519543.1,ENST00000377869.1,ENST00000220616.4,ENST00000542445.1	.	8q24.22	.	.	.	.	.	rs2076740	CLINSIG=other;CLNDBN=Autoimmune_thyroid_disease_3;CLNACC=RCV000013533.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1842444:608175	.	0.169435	0.1627	0.332468	0.3917	0.3226	0.1707	0.184532727412	0.171874879808	0.051,T	0.006,B	0.025,B	1,P	0.694711,N	1.295,L	-0.05,T	4.5318	0.036	0.049	2.255584,17.87	.	AC=6;AN=10;BQB=0.835029;DP4=56,14,74,10;DP=195;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998199;SF=10,11,18,20,22;SGB=-0.683931;VDB=0.107775	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:31:13:242,0,255	0/1:27:11:205,0,255	.	.	.	.	.	.	0/1:45:23:255,0,255	.	0/1:32:18:255,0,255	.	1/1:19:19:255,57,0	.	.	C	T	1	4	Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	.	Autoimmune thyroid disease, association with(CM035973)	CGG-TGG|Arg1999Trp|c.5995C>T|p.R1999W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14657345&dopt=Abstract)	14657345|21757724|17550957|17244789|16720658|16477365|16403815|16187918|16187910|15863666|15769978|15579800|14764776|14657345|12915634|11484898|11117525|10487692|10404833|10199792|9707574|9588493|8325944|8094490|7593451|6088387|4043966|4006519|3967888|3839907|3803305|3680925|3661566|3595599|3472203|3016640|2988933|2982724|2882514|2584351|2063865|1752952|1696305	.	.	.	KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	.	PS1,PS3,BA1
L	8	134125682	rs1133076	G	A	224	PASS	TG	thyroglobulin	exonic	NM_003235	.	missense SNV	TG:NM_003235:exon44:c.G7589A:p.R2530Q	ENST00000519543.1,ENST00000377869.1,ENST00000220616.4,ENST00000542445.1	.	8q24.22	.	.	.	.	.	rs1133076	.	.	0.395349	0.4028	0.53734	0.5742	0.4976	0.3900	0.386676754977	0.397836704327	1.0,T	0.001,B	0.004,B	0.99982,P	0.403510,N	-1.615,N	-0.21,T	10.0443	0.797	5.138	2.540110,19.72	4.83	AC=28;AN=36;BQB=0.980326;DP4=127,51,475,104;DP=1062;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.521497;SF=3,5,6,7,8,9,10,11,12,13,14,16,17,20,21,22,23,24;SGB=-0.693147;VDB=0.495328	GT:DP:DV:PL	.	.	.	1/1:47:47:255,141,0	.	0/1:63:32:255,0,255	1/1:41:41:255,123,0	0/1:53:28:255,0,255	1/1:31:31:255,93,0	1/1:28:28:255,84,0	1/1:36:36:255,108,0	1/1:31:30:255,56,0	0/1:33:14:255,0,255	1/1:46:46:255,138,0	0/1:38:16:255,0,255	.	1/1:50:50:255,151,0	0/1:34:10:232,0,255	.	.	0/1:37:17:255,0,255	0/1:49:21:255,0,255	0/1:19:11:255,0,210	1/1:52:52:255,157,0	1/1:69:69:255,208,0	G	A	10	8	Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	.	Thyroid cancer, increased risk, association with(CM045980)	CAA-CGA|Gln2530Arg|c.7589A>G|p.Q2530R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14633662&dopt=Abstract)	14633662|21757724|17550957|17244789|16720658|16477365|16403815|16187918|16187910|15863666|15769978|15579800|14764776|14657345|12915634|11484898|11117525|10487692|10404833|10199792|9707574|9588493|8325944|8094490|7593451|6088387|4043966|4006519|3967888|3839907|3803305|3680925|3661566|3595599|3472203|3016640|2988933|2982724|2882514|2584351|2063865|1752952|1696305	.	.	.	KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	.	PS1,PS3,BA1
L	8	143956693	rs4541	G	A	223.29	PASS	CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	exonic	NM_000497,NM_001026213	.	missense SNV	CYP11B1:NM_000497:exon7:c.C1157T:p.A386V,CYP11B1:NM_001026213:exon7:c.C1157T:p.A386V	ENST00000292427.4,ENST00000517471.1,ENST00000377675.3	.	8q24.3	.	.	.	Score=0.927097;Name=chr8:143992179	.	rs4541	.	.	.	.	.	0.0245	0.0739	0.3965	0.252841	0.391304	0.965,T	0.01,B	0.009,B	1,P	0.074568,N	-2.14,N	-0.47,T	5.0232	0.577	0.876	.	.	AC=17;AN=28;BQB=0.972288;DP4=227,184,219,321;DP=1116;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=1.50951e-05;MQSB=0.0501804;RPB=0.0874078;SF=0,3,4,11,12,14,15,16,18,19,20,21,22,24;SGB=-0.693054;VDB=0.303638	GT:DP:DV:PL	0/1:60:28:255,0,255	.	.	1/1:79:79:255,238,0	0/1:65:31:255,0,255	.	.	.	.	.	.	0/1:71:36:255,0,255	0/1:65:28:255,0,255	.	0/1:55:26:255,0,255	0/1:71:32:255,0,255	0/1:62:34:255,0,255	.	0/1:71:30:255,0,255	0/1:70:39:255,0,255	1/1:75:75:255,226,0	0/1:121:54:255,0,255	1/1:23:23:255,69,0	.	0/1:63:25:255,0,255	G	A	3	11	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3)	.	Adrenal hyperplasia(HM972177)	GCG-GTG|Ala386Val|c.1157C>T|p.A386V(http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0340-6717|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	20981092|19029289|16984984|16670167|16030166|15522937|15507509|15324322|11549691|11095433|10902803|10599751|9302260|8964882|8768848|8506298|7981756|7903314|7049883|6243663|3875277|3829886|3521459|3499608|3295546|2022736|1741400|1731223|1472060|1430088	.	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	8	143961102	rs4534	C	T	223.29	PASS	CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	exonic	NM_000497,NM_001026213	.	missense SNV	CYP11B1:NM_000497:exon1:c.G128A:p.R43Q,CYP11B1:NM_001026213:exon1:c.G128A:p.R43Q	ENST00000292427.4,ENST00000517471.1,ENST00000377675.3	.	8q24.3	.	.	.	Score=0.927097;Name=chr8:143992179	.	rs4534	.	.	0.456811	0.4425	0.147165	0.0208	0.0804	0.4589	0.434150393568	0.451923223558	1.0,T	0.001,B	0.0,B	1,P	0.651646,N	-0.835,N	-0.32,T	6.461	-0.469	-0.028	.	.	AC=17;AN=28;BQB=0.467314;DP4=335,207,401,237;DP=1642;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.671044;SF=0,3,4,11,12,14,15,16,18,19,20,21,22,24;SGB=-0.693146;VDB=0.0116818	GT:DP:DV:PL	0/1:81:42:255,0,255	.	.	1/1:73:73:255,220,0	0/1:60:27:255,0,255	.	.	.	.	.	.	0/1:78:39:255,0,255	0/1:69:25:255,0,255	.	0/1:81:32:255,0,255	0/1:71:42:255,0,255	0/1:99:39:255,0,255	.	0/1:70:35:255,0,255	0/1:72:37:255,0,255	1/1:77:77:255,232,0	0/1:178:74:255,0,255	1/1:29:29:255,87,0	.	0/1:142:67:255,0,255	C	T	3	11	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3)	.	Reduced expression(CM1211858)	CGG-CAG|Arg43Gln|c.128G>A|p.R43Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17121536&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23291679&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=&dopt=Abstract)	17121536|23291679|19029289|16984984|16670167|16030166|15522937|15507509|15324322|11549691|11095433|10902803|10599751|9302260|8964882|8768848|8506298|7981756|7903314|7049883|6243663|3875277|3829886|3521459|3499608|3295546|2022736|1741400|1731223|1472060|1430088	.	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	8	143994041	rs4545	C	T	222.75	PASS	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	exonic	NM_000498	.	missense SNV	CYP11B2:NM_000498:exon8:c.G1303A:p.G435S	ENST00000323110.2	.	8q24.3	.	.	.	Score=0.927097;Name=chr8:143954579	.	rs4545	.	.	0.503322	0.496	0.16254	0.0224	0.0871	0.5065	0.500765822358	0.507211266827	0.43,T	0.036,B	0.104,B	1,P	0.145573,N	0.235,N	-0.32,T	7.4483	-2.274	-0.484	.	.	AC=18;AN=32;BQB=0.459988;DP4=426,85,488,105;DP=1475;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996757;SF=0,3,4,6,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.244703	GT:DP:DV:PL	0/1:68:39:255,0,255	.	.	1/1:69:69:255,208,0	0/1:69:38:255,0,255	.	0/1:74:34:255,0,255	.	.	.	.	0/1:73:38:255,0,255	0/1:62:33:255,0,255	.	0/1:78:42:255,0,255	0/1:76:35:255,0,255	0/1:62:31:255,0,255	.	0/1:60:26:255,0,255	0/1:77:40:255,0,255	0/1:75:29:255,0,255	0/1:87:41:255,0,255	1/1:30:30:255,90,0	0/1:75:33:255,0,255	0/1:69:35:255,0,255	C	T	2	14	Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3)	.	Corticosterone methyl oxidase deficiency(CM033362)	GGC-AGC|Gly435Ser|c.1303G>A|p.G435S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14614232&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21237269&dopt=Abstract)	14614232|20981092|21237269|17003099|15507509|15240589|14993121|14250395|12788848|12788845|12213905|12193581|11368052|11238478|10902803|10323392|9814506|9625333|9506770|9360501|9177280|9139807|8954040|8439335|4121586|3262827|2592361|2256920|2044581|1775135|1741400|1731223|1594605|1472060|1346492|838841|830445|171276	REGULATION_OF_BIOLOGICAL_QUALITY;BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;REGULATION_OF_BLOOD_PRESSURE;HORMONE_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	8	143994702	rs4538	G	T	191.29	PASS	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	exonic	NM_000498	.	synonymous SNV	CYP11B2:NM_000498:exon6:c.C1120A:p.R374R	ENST00000323110.2	.	8q24.3	.	.	.	Score=0.927097;Name=chr8:143954579	.	rs4538	.	.	0.792359	0.8065	0.607628	0.5342	0.5922	0.8016	0.792359	0.807692425481	.	.	.	.	.	.	.	.	-0.176	0.571	.	.	AC=38;AN=48;BQB=0.864177;DP4=226,9,563,29;DP=951;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.864177;MQSB=0.0228227;RPB=0.917776;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.182582	GT:DP:DV:PL	1/1:24:24:255,72,0	1/1:26:26:247,78,0	0/1:33:17:191,0,206	1/1:30:29:211,63,0	0/1:30:14:157,0,200	0/1:43:20:212,0,164	1/1:26:26:226,78,0	0/1:44:16:202,0,255	0/1:49:21:184,0,228	0/1:35:15:191,0,188	1/1:37:37:255,111,0	1/1:30:30:255,90,0	1/1:37:37:255,111,0	0/1:42:24:213,0,206	1/1:32:32:236,96,0	0/1:32:12:162,0,195	0/1:29:12:143,0,183	.	1/1:24:24:246,72,0	1/1:34:34:255,102,0	1/1:27:27:255,81,0	0/1:79:31:186,0,255	1/1:11:11:252,33,0	1/1:38:38:255,114,0	1/1:35:35:255,105,0	G	T	14	10	Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3)	.	Aldosterone synthase deficiency, type 1(CM104297)	CGG-TGG|Arg374Trp|c.1120C>T|p.R374W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20494601&dopt=Abstract)	20494601|17003099|15507509|15240589|14993121|14250395|12788848|12788845|12213905|12193581|11368052|11238478|10902803|10323392|9814506|9625333|9506770|9360501|9177280|9139807|8954040|8439335|4121586|3262827|2592361|2256920|2044581|1775135|1741400|1731223|1594605|1472060|1346492|838841|830445|171276	REGULATION_OF_BIOLOGICAL_QUALITY;BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;REGULATION_OF_BLOOD_PRESSURE;HORMONE_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	8	143996539	rs4539	T	C	222.67	PASS	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	exonic	NM_000498	.	missense SNV	CYP11B2:NM_000498:exon3:c.A518G:p.K173R	ENST00000323110.2	.	8q24.3	.	.	.	Score=0.927097;Name=chr8:143954579	.	rs4539	.	.	0.262458	0.2867	0.346446	0.3766	0.4189	0.2930	0.264165173047	0.269230560096	0.619,T	0.001,B	0.0,B	1,P	0.894271,N	0.33,N	-0.24,T	6.5262	-1.541	-0.667	.	.	AC=20;AN=36;BQB=0.984449;DP4=765,430,966,500;DP=3643;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.766978;MQSB=0.514667;RPB=0.965996;SF=0,1,2,5,6,7,8,9,10,11,12,13,14,18,19,20,23,24;SGB=-0.693147;VDB=0.170265	GT:DP:DV:PL	0/1:123:61:255,0,255	1/1:150:150:255,255,0	0/1:150:71:255,0,255	.	.	0/1:226:120:255,0,255	0/1:112:56:255,0,255	0/1:153:66:255,0,255	0/1:130:68:255,0,255	0/1:105:50:255,0,255	1/1:144:144:255,255,0	0/1:144:65:255,0,255	0/1:121:64:255,0,255	0/1:198:103:255,0,255	0/1:142:65:255,0,255	.	.	.	0/1:98:48:255,0,255	0/1:155:78:255,0,255	0/1:124:55:255,0,255	.	.	0/1:186:100:255,0,255	0/1:200:102:255,0,255	T	C	2	16	Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3); Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio raised (3)	.	Low renin hypertension, association with(CM962423)	AAG-AGG|Lys173Arg|c.518A>G|p.K173R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8954040&dopt=Abstract)	8954040|17003099|15507509|15240589|14993121|14250395|12788848|12788845|12213905|12193581|11368052|11238478|10902803|10323392|9814506|9625333|9506770|9360501|9177280|9139807|8954040|8439335|4121586|3262827|2592361|2256920|2044581|1775135|1741400|1731223|1594605|1472060|1346492|838841|830445|171276	REGULATION_OF_BIOLOGICAL_QUALITY;BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;REGULATION_OF_BLOOD_PRESSURE;HORMONE_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	8	144295183	rs11538389	G	T	223.38	PASS	GPIHBP1	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	exonic	NM_001301772,NM_178172	.	missense SNV	GPIHBP1:NM_001301772:exon1:c.G41T:p.C14F,GPIHBP1:NM_178172:exon1:c.G41T:p.C14F	ENST00000330824.2	.	8q24.3	.	.	.	.	.	rs11538389	.	.	0.313953	0.2946	0.158746	0.0893	0.1509	0.3461	0.322357875957	0.324518901442	0.305,T	0.026,B	0.03,B	1,P	.	2.085,M	-1.26,T	7.7451	0.307	0.409	3.029784,22.3	.	AC=16;AN=26;BQB=0.673129;DP4=173,111,242,167;DP=978;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.969644;SF=1,4,5,6,7,8,9,14,17,19,20,21,23;SGB=-0.692562;VDB=0.0336448	GT:DP:DV:PL	.	0/1:48:22:255,0,255	.	.	1/1:28:28:255,84,0	1/1:87:87:255,255,0	0/1:46:22:255,0,255	0/1:67:37:255,0,255	0/1:33:17:255,0,255	0/1:35:19:255,0,255	.	.	.	.	0/1:66:29:255,0,255	.	.	1/1:35:35:255,105,0	.	0/1:61:25:255,0,255	0/1:57:24:255,0,255	0/1:60:27:255,0,255	.	0/1:70:37:255,0,255	.	G	T	3	10	Hyperlipoproteinemia, type 1D, 615947 (3)	.	Reduced expression(CM118147)	TGC-TTC|Cys14Phe|c.41G>T|p.C14F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21816778&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23831619&dopt=Abstract)	21816778|23831619|24847059|24614124|23008484|22239554|21816778|20124439|20026666|19304573|17997385|17883852|17403372|12496272	.	.	.	.	.	.	.	PS1,PS3,BA1
L	8	145640411	rs2977838	A	G	228	PASS	SLC39A4	solute carrier family 39 (zinc transporter), member 4	exonic	NM_017767,NM_130849	.	missense SNV	SLC39A4:NM_017767:exon3:c.T676C:p.W226R,SLC39A4:NM_130849:exon4:c.T751C:p.W251R	ENST00000276833.5,ENST00000301305.3	.	8q24.3	.	.	.	.	.	rs2977838	.	.	1	1	0.984625	0.9665	0.9678	0.9997	1.0	1.0	0.354,T	0.0,B	0.0,B	1,P	0.000000,N	.	0.73,T	1.6542	-0.103	-0.228	.	.	AC=50;AN=50;BQB=1;DP4=1,0,1021,813;DP=2373;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.350647	GT:DP:DV:PL	1/1:61:61:255,184,0	1/1:68:68:255,205,0	1/1:68:68:255,205,0	1/1:76:76:255,229,0	1/1:58:58:255,175,0	1/1:114:114:255,255,0	1/1:70:70:255,211,0	1/1:71:71:255,214,0	1/1:65:65:255,196,0	1/1:49:49:255,148,0	1/1:81:81:255,244,0	1/1:53:53:255,160,0	1/1:62:62:255,187,0	1/1:104:104:255,255,0	1/1:98:98:255,255,0	1/1:60:60:255,181,0	1/1:62:62:255,187,0	1/1:68:68:255,205,0	1/1:57:57:255,172,0	1/1:83:83:255,250,0	1/1:73:73:255,220,0	1/1:106:106:255,255,0	1/1:39:38:255,81,0	1/1:96:96:255,255,0	1/1:93:93:255,255,0	A	G	25	0	Acrodermatitis enteropathica, 201100 (3)	.	Acrodermatitis enteropathica(CM021685)	CGG-TGG|Arg251Trp|c.751C>T|p.R251W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12032886&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	12032886|20981092|19370757|18003899|17483098|16714095|14709598|12787121|12068297|12032886|11254458|11035780	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_ZINC_TRANSPORTERS;REACTOME_METAL_ION_SLC_TRANSPORTERS	PS1,PS3,BA1
L	9	2718534	rs12237048	C	G	225.5	PASS	KCNV2	potassium channel, voltage gated modifier subfamily V, member 2	exonic	NM_133497	.	synonymous SNV	KCNV2:NM_133497:exon1:c.C795G:p.A265A	ENST00000382082.3	CpG: 104	9p24.2	.	.	Score=957;Name=V$ZIC1_01	.	.	rs12237048	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000082511.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.699336	0.7173	0.480032	0.4356	0.4896	0.7209	0.712864012251	0.698317586538	.	.	.	.	.	.	.	.	2.279	-0.775	.	4.94	AC=38;AN=48;BQB=0.690908;DP4=154,76,535,272;DP=1430;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.184973;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693145;VDB=0.101797	GT:DP:DV:PL	1/1:40:40:255,120,0	0/1:50:22:255,0,255	1/1:46:46:255,138,0	.	1/1:29:29:255,87,0	0/1:62:26:255,0,255	0/1:36:17:255,0,255	1/1:36:36:255,108,0	1/1:34:34:255,102,0	1/1:29:29:255,87,0	1/1:46:46:255,138,0	0/1:46:24:255,0,255	0/1:27:13:255,0,255	1/1:49:49:255,148,0	0/1:49:27:255,0,255	1/1:41:41:255,123,0	1/1:45:45:255,135,0	1/1:33:33:255,99,0	0/1:37:19:255,0,255	1/1:51:51:255,154,0	0/1:51:25:255,0,255	1/1:65:65:255,196,0	0/1:21:11:255,0,252	0/1:70:35:255,0,255	1/1:44:44:255,132,0	C	G	14	10	Retinal cone dystrophy 3B, 610356 (3)	.	Cone dystrophy with supernormal rod ERG(CI1110048)	CGGGGTG^265GCCccTCCAGCACCT|c.794_795dupCC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21882291&dopt=Abstract)	21882291|21882291|18235024|16909397|12060745	.	.	.	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	PS1,PS3,BA1
L	9	32526146	rs10813831	G	A	223.2	PASS	DDX58	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	exonic	NM_014314	.	missense SNV	DDX58:NM_014314:exon1:c.C19T:p.R7C	ENST00000379883.2,ENST00000545044.1,ENST00000379868.1,ENST00000379882.1	CpG: 27	9p21.1	.	.	.	.	.	rs10813831	.	.	0.124585	0.1052	0.184105	0.2484	0.2228	0.0993	0.0987749908116	0.117788665865	0.002,D	0.736,P	0.998,D	1,P	0.560359,N	2.3,M	3.31,T	8.0968	-0.381	-0.144	4.021891,23.6	.	AC=6;AN=10;BQB=0.710339;DP4=20,33,35,54;DP=189;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.36261;SF=1,3,6,7,20;SGB=-0.686358;VDB=0.081048	GT:DP:DV:PL	.	0/1:28:14:255,0,255	.	0/1:22:12:255,0,190	.	.	0/1:34:16:255,0,255	0/1:28:17:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	1/1:30:30:255,90,0	.	.	.	.	G	A	1	4	Singleton-Merten syndrome 2, 616298 (3)	.	Reduced activity, association with(CM091752)	CGC-TGC|Arg7Cys|c.19C>T|p.R7C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19324880&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20511549&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19902255&dopt=Abstract)	19324880|20511549|19902255|25620203|25119032|24590070|21947008|21939710|21501829|21147464|19119185|18650396|17460044|17392790|17190814|17038590|17038589|16625202|16039576|15767399|15737993|15370293|15219805|15208624|15181474|11890704	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_INTERFERON_SIGNALING;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	9	97365720	rs1769257	T	C	224.44	PASS	FBP1	fructose-1,6-bisphosphatase 1	exonic	NM_000507,NM_001127628	.	synonymous SNV	FBP1:NM_000507:exon7:c.A960G:p.G320G,FBP1:NM_001127628:exon8:c.A960G:p.G320G	ENST00000415431.1,ENST00000375326.4	.	9q22.32	.	.	.	.	.	rs1769257	.	.	0.958472	0.9563	0.907149	0.8853	0.8637	0.9563	0.866003271057	0.953125052885	.	.	.	.	.	.	.	.	-0.184	-0.413	.	.	AC=47;AN=50;BQB=0.77715;DP4=33,14,625,166;DP=1055;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.599643;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693054;VDB=0.295814	GT:DP:DV:PL	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:46:46:255,138,0	1/1:31:31:255,93,0	1/1:24:24:255,72,0	1/1:54:54:255,163,0	1/1:38:38:255,114,0	1/1:25:25:255,75,0	1/1:29:29:255,87,0	1/1:17:17:255,51,0	1/1:45:45:255,135,0	1/1:27:27:255,81,0	0/1:30:11:212,0,255	1/1:33:33:255,99,0	1/1:28:28:255,84,0	0/1:29:13:255,0,255	1/1:26:26:255,78,0	0/1:23:11:227,0,255	1/1:34:34:255,102,0	1/1:25:25:255,75,0	1/1:36:36:255,108,0	1/1:46:46:255,138,0	1/1:19:19:255,57,0	1/1:71:71:255,214,0	1/1:46:46:255,138,0	T	C	22	3	Fructose-1,6-bisphosphatase deficiency, 229700 (3)	.	Fructose-1,6-bisphosphatase deficiency(CI951932)	GTGATC^319TTGGgGATCCCCCGA|c.959dupG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7763253&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23585210&dopt=Abstract)	7763253|23585210|25043030|12126934|9678974|9382095|8530070|7763253|7558035|4307819	CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS	.	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;IDENTICAL_PROTEIN_BINDING;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	PS1,PS3,BA1
L	9	98209594	rs357564	G	A	224	PASS	PTCH1	patched 1	exonic	NM_000264,NM_001083602,NM_001083603,NM_001083604,NM_001083605,NM_001083606,NM_001083607	.	missense SNV	PTCH1:NM_000264:exon23:c.C3944T:p.P1315L,PTCH1:NM_001083602:exon23:c.C3746T:p.P1249L,PTCH1:NM_001083603:exon23:c.C3941T:p.P1314L,PTCH1:NM_001083604:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083605:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083606:exon23:c.C3491T:p.P1164L,PTCH1:NM_001083607:exon23:c.C3491T:p.P1164L	ENST00000418258.1,ENST00000430669.2,ENST00000375274.2,ENST00000437951.1,ENST00000421141.1,ENST00000429896.2,ENST00000331920.6	.	9q22.32	.	.	.	.	.	rs357564	CLINSIG=Benign|Benign;CLNDBN=not_provided|not_specified;CLNACC=RCV000034575.1|RCV000078463.5;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374	.	0.546512	0.5863	0.396765	0.2993	0.3855	0.5667	0.485452128637	0.533654115385	0.023,D	0.714,P	0.944,P	4.46896e-11,P	0.000001,D	2.295,M	-2.73,D	18.1026	2.506	9.409	6.218399,28.8	4.83	AC=28;AN=42;BQB=0.412255;DP4=289,194,547,418;DP=2036;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.70271;SF=0,2,3,4,5,6,7,8,9,11,12,13,14,16,17,18,19,20,21,23,24;SGB=-0.693146;VDB=0.78884	GT:DP:DV:PL	0/1:79:42:255,0,255	.	0/1:76:36:255,0,255	0/1:85:43:255,0,255	0/1:63:34:255,0,255	0/1:70:32:255,0,255	0/1:72:34:255,0,255	1/1:76:76:255,229,0	0/1:68:36:255,0,255	1/1:44:44:255,132,0	.	0/1:68:40:255,0,255	1/1:61:61:255,184,0	1/1:102:102:255,255,0	1/1:70:70:255,211,0	.	0/1:61:28:255,0,255	0/1:58:23:255,0,255	0/1:58:28:255,0,255	1/1:79:79:255,238,0	0/1:70:35:255,0,255	0/1:83:44:255,0,255	.	0/1:61:34:255,0,255	1/1:44:44:255,132,0	G	A	7	14	Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly-7, 610828 (3)	.	Skin cancer, association with(CM056376)	CTC-CCC|Leu1315Pro|c.3944T>C|p.L1315P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15888139&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22703879&dopt=Abstract)	15888139|24728327|22703879|24990743|24990742|24311692|22572734|19557015|19252479|18830227|18794898|18477452|18477451|17985375|17641202|17230190|17096318|17001668|16419085|15618519|15598212|15300262|14570707|12907805|12900905|12192414|11941477|11257109|10984056|10815860|10220428|9620294|9415689|9341860|9262482|9231911|8981943|8981940|8906794|8906787|8898207|8782823|8755929|8681379|8658145	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;PATTERN_SPECIFICATION_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGIONALIZATION;REGULATION_OF_GROWTH;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_GROWTH;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;GROWTH;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;EMBRYONIC_MORPHOGENESIS;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;EMBRYONIC_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_HEDGEHOG_2PATHWAY;PID_HEDGEHOG_GLIPATHWAY	BIOCARTA_SHH_PATHWAY;BIOCARTA_PTC1_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	9	98997810	rs2066479	C	T	217.5	PASS	HSD17B3	hydroxysteroid (17-beta) dehydrogenase 3	exonic	NM_000197	.	missense SNV	HSD17B3:NM_000197:exon11:c.G865A:p.G289S	ENST00000375263.3,ENST00000375262.2,ENST00000464104.1	.	9q22.32	.	.	.	.	.	rs2066479	.	.	0.260797	0.255	0.11901	0.0695	0.0731	0.2209	0.220520761103	0.249999716346	0.812,T	0.001,B	0.006,B	1,P	0.904483,N	-1.935,N	-1.89,D	6.4486	-0.786	-0.397	.	.	AC=10;AN=20;BQB=0.99615;DP4=182,54,154,51;DP=639;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.267107;SF=2,3,4,7,14,18,19,20,23,24;SGB=-0.692914;VDB=0.263921	GT:DP:DV:PL	.	.	0/1:39:25:255,0,255	0/1:58:25:255,0,255	0/1:37:23:255,0,255	.	.	0/1:38:15:255,0,255	.	.	.	.	.	.	0/1:37:14:255,0,255	.	.	.	0/1:35:10:211,0,255	0/1:53:24:255,0,255	0/1:33:12:255,0,255	.	.	0/1:58:26:255,0,255	0/1:53:31:255,0,255	C	T	0	10	Pseudohermaphroditism, male, with gynecomastia, 264300 (3)	.	Prostate cancer, susceptibility, association with(CM023631)	GGT-AGT|Gly289Ser|c.865G>A|p.G289S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12210481&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23295294&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20059664&dopt=Abstract)	12210481|23295294|20059664|11158067|9758445|9709959|9467575|8626842|8550739|8075637|2918056|598011	SYSTEM_DEVELOPMENT;REPRODUCTIVE_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;REPRODUCTION	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_ANDROGEN_BIOSYNTHESIS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	9	107586753	rs2066714	T	C	215.33	PASS	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	exonic	NM_005502	.	missense SNV	ABCA1:NM_005502:exon18:c.A2649G:p.I883M	ENST00000374736.3	.	9q31.1	.	.	.	.	.	rs2066714	.	.	0.709302	0.6865	0.356829	0.2460	0.2133	0.7204	0.650076517611	0.695913346154	0.148,T	0.002,B	0.002,B	1,P	0.015505,N	0,N	-2.4,D	3.2794	-0.081	-1.117	.	.	AC=36;AN=42;BQB=0.914584;DP4=36,21,219,141;DP=558;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.944459;SF=0,1,2,4,5,6,7,8,9,10,11,12,14,15,16,17,18,20,21,22,24;SGB=-0.692831;VDB=0.945064	GT:DP:DV:PL	1/1:24:24:255,72,0	1/1:22:22:255,66,0	1/1:17:17:255,51,0	.	1/1:21:21:255,63,0	1/1:25:25:255,75,0	0/1:19:7:193,0,255	0/1:19:9:236,0,235	1/1:22:22:255,66,0	1/1:9:9:255,27,0	1/1:24:24:255,72,0	1/1:26:26:255,78,0	1/1:14:14:255,42,0	.	0/1:16:8:216,0,203	0/1:27:20:255,0,159	1/1:26:26:255,78,0	0/1:11:4:147,0,220	1/1:17:17:255,51,0	.	1/1:17:17:255,51,0	1/1:22:22:255,66,0	1/1:12:12:255,36,0	.	0/1:27:14:255,0,255	T	C	15	6	Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)	.	Tangier disease(CM990005)	ATA-ATG|Ile883Met|c.2649A>G|p.I883M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10431237&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11238261&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17951323&dopt=Abstract)	10431237|11238261|17951323|22012398|21480869|20686565|20488992|20466885|20466882|18354102|17322896|16543947|16372134|15790791|15297675|15269218|15269217|15163665|14747463|12702168|12624133|12511593|12509412|12111381|12111371|12084722|12009425|11940086|11896206|11700048|11476965|11476961|11423537|11355874|11162504|11030331|10970803|10968783|10884428|10799318|10760292|10655069|10535983|10525055|10431238|10431237|10431236|10431227|10092505|9888879|9020838|9006906|8209894|8088782|7627690|4000967|3005356|1571556	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;LIPID_TRANSPORT;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;INTERLEUKIN_1_SECRETION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;NUCLEOTIDE_BIOSYNTHETIC_PROCESS;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;INTEGRAL_TO_MEMBRANE;LIPID_RAFT;INTEGRAL_TO_PLASMA_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	PID_RXR_VDR_PATHWAY	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	9	107588033	rs2066715	C	T	215	PASS	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	exonic	NM_005502	.	missense SNV	ABCA1:NM_005502:exon17:c.G2473A:p.V825I	ENST00000374736.3,ENST00000494467.1	.	9q31.1	.	.	.	.	.	rs2066715	.	.	0.418605	0.4196	0.113219	0.0472	0.0805	0.4242	0.358346157734	0.385817560096	0.863,T	0.001,B	0.0,B	0.996878,P	0.054474,N	-1.685,N	-1.99,D	11.1605	1.391	2.148	.	3.14	AC=22;AN=34;BQB=0.994207;DP4=118,73,162,139;DP=667;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994207;SF=1,2,4,5,6,7,8,9,10,11,14,16,17,18,20,21,22;SGB=-0.662043;VDB=0.880537	GT:DP:DV:PL	.	0/1:26:9:234,0,255	0/1:23:9:243,0,255	.	1/1:30:30:255,90,0	1/1:36:36:255,108,0	0/1:30:14:255,0,255	0/1:39:23:255,0,255	1/1:21:21:255,63,0	0/1:21:10:255,0,255	0/1:36:19:255,0,255	0/1:35:13:255,0,255	.	.	0/1:29:12:255,0,255	.	0/1:36:16:255,0,255	0/1:19:12:255,0,232	1/1:27:27:255,81,0	.	0/1:36:13:255,0,255	1/1:32:32:255,96,0	0/1:16:5:140,0,255	.	.	C	T	5	12	Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)	.	Increased plasma HDL cholesterol(CM031605)	GTC-ATC|Val825Ile|c.2473G>A|p.V825I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12709788&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25961151&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21247457&dopt=Abstract)	12709788|25961151|21247457|22012398|21480869|20686565|20488992|20466885|20466882|18354102|17322896|16543947|16372134|15790791|15297675|15269218|15269217|15163665|14747463|12702168|12624133|12511593|12509412|12111381|12111371|12084722|12009425|11940086|11896206|11700048|11476965|11476961|11423537|11355874|11162504|11030331|10970803|10968783|10884428|10799318|10760292|10655069|10535983|10525055|10431238|10431237|10431236|10431227|10092505|9888879|9020838|9006906|8209894|8088782|7627690|4000967|3005356|1571556	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;LIPID_TRANSPORT;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;INTERLEUKIN_1_SECRETION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;NUCLEOTIDE_BIOSYNTHETIC_PROCESS;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;INTEGRAL_TO_MEMBRANE;LIPID_RAFT;INTEGRAL_TO_PLASMA_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	PID_RXR_VDR_PATHWAY	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	9	107620867	rs2230806	C	T	161.25	PASS	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	exonic	NM_005502	.	missense SNV	ABCA1:NM_005502:exon7:c.G656A:p.R219K	ENST00000423487.2,ENST00000374736.3	.	9q31.1	.	.	.	.	.	rs2230806	CLINSIG=other;CLNDBN=Coronary_heart_disease_in_familial_hypercholesterolemia\x2c_protection_against;CLNACC=RCV000010114.2;CLNDSDB=MedGen;CLNDSDBID=C1838721	.	0.425249	0.4147	0.439696	0.3915	0.3299	0.4458	0.413476136294	0.431490237981	0.308,T	0.0,B	0.0,B	0.999975,P	0.126712,N	-0.11,N	-2.23,D	8.2419	0.083	0.318	.	.	AC=21;AN=36;BQB=0.76338;DP4=114,19,153,19;DP=405;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.544711;SF=0,1,2,5,6,8,10,11,12,13,15,16,17,20,21,22,23,24;SGB=-0.680642;VDB=0.441617	GT:DP:DV:PL	1/1:12:12:255,36,0	0/1:15:10:246,0,154	0/1:14:4:133,0,244	.	.	0/1:18:12:245,0,162	0/1:19:5:130,0,255	.	0/1:22:14:248,0,187	.	1/1:15:15:255,45,0	0/1:17:11:255,0,107	0/1:15:5:142,0,247	0/1:14:5:137,0,226	.	1/1:21:21:255,63,0	0/1:22:12:245,0,200	0/1:8:3:63,0,188	.	.	0/1:18:9:223,0,230	0/1:27:9:168,0,255	0/1:9:3:69,0,144	0/1:23:14:216,0,245	0/1:16:8:200,0,206	C	T	3	15	Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)	.	Increased plasma HDL cholesterol(CM030397)	AGG-AAG|Arg219Lys|c.656G>A|p.R219K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11238261&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20170916&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19304534&dopt=Abstract)	11238261|20170916|19304534|22012398|21480869|20686565|20488992|20466885|20466882|18354102|17322896|16543947|16372134|15790791|15297675|15269218|15269217|15163665|14747463|12702168|12624133|12511593|12509412|12111381|12111371|12084722|12009425|11940086|11896206|11700048|11476965|11476961|11423537|11355874|11162504|11030331|10970803|10968783|10884428|10799318|10760292|10655069|10535983|10525055|10431238|10431237|10431236|10431227|10092505|9888879|9020838|9006906|8209894|8088782|7627690|4000967|3005356|1571556	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;LIPID_TRANSPORT;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;INTERLEUKIN_1_SECRETION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;NUCLEOTIDE_BIOSYNTHETIC_PROCESS;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;INTEGRAL_TO_MEMBRANE;LIPID_RAFT;INTEGRAL_TO_PLASMA_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	PID_RXR_VDR_PATHWAY	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	9	117803271	rs2274750	C	T	197	PASS	TNC	tenascin C	exonic	NM_002160	.	missense SNV	TNC:NM_002160:exon19:c.G5341A:p.A1781T	ENST00000340094.3,ENST00000423613.2,ENST00000350763.4,ENST00000345230.3,ENST00000341037.4,ENST00000346706.3,ENST00000542877.1,ENST00000537320.1,ENST00000535648.1	.	9q33.1	.	.	.	.	.	rs2274750	.	.	0.114618	0.1151	0.0820687	0.0512	0.0516	0.1022	0.0957121500766	0.0997596682692	0.005,D	0.884,P	0.99,D	0.999987,P	0.000227,D	2.485,M	-0.27,T	12.6089	1.556	2.473	6.870372,33	4.08	AC=7;AN=14;BQB=0.997918;DP4=94,26,74,23;DP=291;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996303;SF=0,1,4,15,18,20,21;SGB=-0.69168;VDB=0.0046668	GT:DP:DV:PL	0/1:30:19:255,0,255	0/1:35:16:255,0,255	.	.	0/1:30:9:178,0,255	.	.	.	.	.	.	.	.	.	.	0/1:25:7:170,0,255	.	.	0/1:24:12:244,0,255	.	0/1:43:20:255,0,255	0/1:30:14:255,0,255	.	.	.	C	T	0	7	Deafness, autosomal dominant 56, 615629 (3)	.	Lung cancer, susceptibility to, association with(CM067722)	GCC-ACC|Ala1781Thr|c.5341G>A|p.A1781T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16741161&dopt=Abstract)	16741161|23936043|21294718|19561617|18305139|18185580|14722076|9174161|8692862|8614825|8600304|7534342|2460335|1719530|1709136|1704365|1692804|1385416	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_INTEGRIN_A9B1_PATHWAY;PID_SYNDECAN_4_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	9	117808785	rs2104772	T	A	223.72	PASS	TNC	tenascin C	exonic	NM_002160	.	missense SNV	TNC:NM_002160:exon17:c.A5029T:p.I1677L	ENST00000340094.3,ENST00000423613.2,ENST00000350763.4,ENST00000345230.3,ENST00000341037.4,ENST00000346706.3,ENST00000542877.1,ENST00000537320.1,ENST00000535648.1	.	9q33.1	.	.	.	.	.	rs2104772	.	.	0.431894	0.4514	0.48103	0.4757	0.4385	0.4377	0.377488707504	0.419471512019	0.417,T	0.032,B	0.004,B	3.90064e-17,P	0.000014,D	1.78,L	0.64,T	8.6288	0.435	0.632	2.154882,17.21	3.42	AC=27;AN=36;BQB=0.492749;DP4=110,71,317,220;DP=962;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974464;SF=0,1,4,5,6,8,9,10,12,13,15,16,17,18,20,21,23,24;SGB=-0.693144;VDB=0.383243	GT:DP:DV:PL	1/1:39:39:255,117,0	0/1:34:14:255,0,255	.	.	0/1:38:23:255,0,255	0/1:53:24:255,0,255	1/1:29:29:255,87,0	.	1/1:39:39:255,117,0	0/1:42:19:255,0,255	1/1:45:45:255,135,0	.	1/1:31:31:255,93,0	0/1:31:19:255,0,255	.	0/1:36:18:255,0,255	0/1:35:12:233,0,255	1/1:35:35:255,105,0	1/1:44:44:255,132,0	.	1/1:43:43:255,129,0	0/1:64:35:255,0,255	.	0/1:33:21:255,0,255	1/1:47:47:255,141,0	T	A	9	9	Deafness, autosomal dominant 56, 615629 (3)	.	Adult asthma, association with(CM053428)	TTA-ATA|Leu1677Ile|c.5029T>A|p.L1677I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16115819&dopt=Abstract)	16115819|23936043|21294718|19561617|18305139|18185580|14722076|9174161|8692862|8614825|8600304|7534342|2460335|1719530|1709136|1704365|1692804|1385416	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_INTEGRIN_A9B1_PATHWAY;PID_SYNDECAN_4_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	9	123769200	rs17611	C	T	202.29	PASS	C5	complement component 5	exonic	NM_001317163,NM_001317164,NM_001735	.	missense SNV	C5:NM_001317163:exon19:c.G2422A:p.V808I,C5:NM_001317164:exon19:c.G2404A:p.V802I,C5:NM_001735:exon19:c.G2404A:p.V802I	ENST00000223642.1,ENST00000466280.1	.	9q33.2	.	.	.	.	.	rs17611	.	.	0.576412	0.5685	0.404752	0.3249	0.4586	0.5539	0.502296863706	0.599759764423	0.136,T	0.03,B	0.127,B	0.945357,P	0.064536,N	0.99,L	1.75,T	5.6286	0.277	0.100	2.409872,18.88	.	AC=20;AN=34;BQB=0.993528;DP4=113,44,153,48;DP=503;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.352802;SF=0,1,2,3,4,5,6,7,9,10,12,13,15,19,20,21,23;SGB=-0.676189;VDB=0.407641	GT:DP:DV:PL	0/1:20:11:224,0,238	0/1:23:12:255,0,255	0/1:24:11:255,0,255	0/1:19:12:238,0,175	0/1:28:11:255,0,255	0/1:16:8:200,0,203	0/1:28:10:255,0,255	1/1:24:24:255,72,0	.	0/1:16:9:215,0,232	0/1:19:13:255,0,155	.	1/1:11:11:255,33,0	0/1:20:11:253,0,252	.	0/1:29:16:255,0,255	.	.	.	1/1:16:16:255,48,0	0/1:21:7:209,0,255	0/1:25:15:255,0,255	.	0/1:19:4:97,0,255	.	C	T	3	14	C5 deficiency, 609536 (3); [Eculizumab, poor response to], 615749 (3)	.	Ischemic stroke, association with(CM093430)	GTT-ATT|Val802Ile|c.2404G>A|p.V802I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19028820&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20022638&dopt=Abstract)	19028820|20022638|24521109|18644651|17804836|16769899|15995705|15902311|15778377|15488949|12454860|10973279|10333435|9700192|9090385|7730648|7595222|3365401|3248005|2303408|1984448|1917999|106884	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;DEFENSE_RESPONSE;BEHAVIOR;LOCOMOTORY_BEHAVIOR;ACTIVATION_OF_MAPK_ACTIVITY;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;PROTEIN_KINASE_CASCADE;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;RESPONSE_TO_EXTERNAL_STIMULUS;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;RESPONSE_TO_WOUNDING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INTRACELLULAR_SIGNALING_CASCADE	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	G_PROTEIN_COUPLED_RECEPTOR_BINDING;CHEMOKINE_ACTIVITY;CHEMOKINE_RECEPTOR_BINDING;RECEPTOR_BINDING;CYTOKINE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_PRION_DISEASES;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	BIOCARTA_GRANULOCYTES_PATHWAY;BIOCARTA_LAIR_PATHWAY;BIOCARTA_CLASSIC_PATHWAY;BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PS1,PS3,BA1
L	9	127262802	rs1110061	C	G	223	PASS	NR5A1	nuclear receptor subfamily 5, group A, member 1	exonic	NM_004959	.	missense SNV	NR5A1:NM_004959:exon4:c.G437C:p.G146A	ENST00000373588.4	.	9q33.3	.	.	.	.	.	rs1110061	.	.	0.322259	0.3234	0.325479	0.2449	0.1183	0.3516	0.295558748851	0.305288483173	0.681,T	0.0,B	0.0,B	1,P	0.546019,N	-1.175,N	-3.2,D	5.4501	-0.390	0.007	.	.	AC=20;AN=34;BQB=0.29026;DP4=248,203,276,240;DP=1231;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.279054;SF=0,1,2,4,6,7,10,12,13,14,15,19,20,21,22,23,24;SGB=-0.692831;VDB=0.564412	GT:DP:DV:PL	0/1:56:24:255,0,255	1/1:55:55:255,166,0	0/1:66:41:255,0,255	.	0/1:61:21:255,0,255	.	0/1:53:22:255,0,255	0/1:63:27:255,0,255	.	.	0/1:53:17:255,0,255	.	0/1:85:44:255,0,255	0/1:102:38:255,0,255	0/1:61:28:255,0,255	1/1:48:48:255,144,0	.	.	.	0/1:48:21:255,0,255	0/1:55:25:255,0,255	0/1:52:24:255,0,255	0/1:25:12:255,0,255	1/1:42:42:255,126,0	0/1:42:27:255,0,255	C	G	3	14	46XY sex reversal 3, 612965 (3); Premature ovarian failure 7, 612964 (3); Adrenocortical insufficiency (3); Spermatogenic failure 8, 613957 (3)	.	Adrenal disease, association with(CM067706)	GGG-GCG|Gly146Ala|c.437G>C|p.G146A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14623279&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23154282&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24434652&dopt=Abstract)	14623279|23154282|24434652|20887963|19246354|18454134|17694559|17519303|17200175|16684822|15579739|15546904|15472171|15070943|12907682|12130543|12101186|11932325|11297612|11121051|11038323|10370224|10369247|10230405|10230404|9605934|9590178|8806624|8205615|8187173|7789992|7490110|1406703	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REPRODUCTIVE_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;STEROID_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CELLULAR_LIPID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;MALE_GONAD_DEVELOPMENT;STEROID_BIOSYNTHETIC_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;REPRODUCTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
L	9	130984755	rs3003609	C	T	224.75	PASS	DNM1	dynamin 1	exonic	NM_001005336,NM_001288737,NM_001288738,NM_001288739,NM_004408	.	unknown	UNKNOWN	ENST00000475805.1,ENST00000372923.3,ENST00000393594.3,ENST00000486160.1,ENST00000341179.7	.	9q34.11	.	.	.	.	.	rs3003609	.	.	0.621262	0.6121	0.454673	0.4043	0.5325	0.6009	0.526799323124	0.610576675481	.	.	.	.	.	.	.	.	-1.375	0.577	2.046935,16.51	.	AC=35;AN=48;BQB=0.639264;DP4=406,239,1133,693;DP=3345;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987511;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.69311;VDB=0.761666	GT:DP:DV:PL	0/1:76:31:255,0,255	1/1:87:87:255,255,0	1/1:106:106:255,255,0	1/1:100:100:255,255,0	0/1:84:45:255,0,255	0/1:159:83:255,0,255	1/1:87:87:255,255,0	0/1:114:54:255,0,255	1/1:81:81:255,244,0	0/1:80:47:255,0,255	0/1:98:51:255,0,255	1/1:87:87:255,255,0	0/1:91:52:255,0,255	1/1:141:141:255,255,0	0/1:107:48:255,0,255	0/1:84:36:255,0,255	0/1:78:42:255,0,255	0/1:74:35:255,0,255	1/1:91:91:255,255,0	1/1:113:111:255,243,0	0/1:96:46:255,0,255	1/1:157:157:255,255,0	.	1/1:151:151:255,255,0	0/1:129:57:255,0,255	C	T	11	13	Epileptic encephalopathy, early infantile, 31, 616346 (3)	.	Nicotine dependence, association with(CM091891)	TTC-TTT|Phe336Phe|c.1008C>T|p.F336F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18987626&dopt=Abstract)	18987626|25533962|25262651|21927001|21927000|20700442|18806795|17463283|15637282|14731821|11242086|9635431|9143510|9143509|8308025|8101525	ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;RECEPTOR_MEDIATED_ENDOCYTOSIS	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	KEGG_ENDOCYTOSIS;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS	PID_NOTCH_PATHWAY;PID_EPHBFWDPATHWAY;PID_TXA2PATHWAY;PID_CXCR4_PATHWAY;PID_TRKRPATHWAY;PID_IL8CXCR2_PATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_CXCR3PATHWAY;PID_THROMBIN_PAR1_PATHWAY;PID_IL8CXCR1_PATHWAY;PID_EPHRINBREVPATHWAY	BIOCARTA_NDKDYNAMIN_PATHWAY;BIOCARTA_GABA_PATHWAY;BIOCARTA_BARR_MAPK_PATHWAY;BIOCARTA_BARRESTIN_SRC_PATHWAY;BIOCARTA_BARRESTIN_PATHWAY	REACTOME_GAP_JUNCTION_DEGRADATION;REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_RETROGRADE_NEUROTROPHIN_SIGNALLING;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_RECYCLING_PATHWAY_OF_L1;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_GAP_JUNCTION_TRAFFICKING	PS1,PS3,BA1
L	9	131285955	rs2275260	A	G	223.13	PASS	GLE1	GLE1 RNA export mediator	exonic	NM_001003722,NM_001499	.	missense SNV	GLE1:NM_001003722:exon6:c.A727G:p.I243V,GLE1:NM_001499:exon6:c.A727G:p.I243V	ENST00000494417.1,ENST00000539582.1,ENST00000309971.4,ENST00000372770.4	.	9q34.11	.	.	.	.	.	rs2275260	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000179351.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.45515	0.4782	0.347444	0.2647	0.2679	0.4420	0.408882214395	0.441106177885	0.111,T	0.001,B	0.0,B	1,P	0.558290,N	-1.01,N	0.05,T	7.9436	-1.235	1.745	.	.	AC=19;AN=32;BQB=0.930741;DP4=245,70,273,106;DP=954;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.544757;SF=0,2,3,5,7,8,9,11,14,15,16,17,18,19,20,22;SGB=-0.690438;VDB=0.593184	GT:DP:DV:PL	0/1:34:17:255,0,255	.	0/1:49:24:255,0,255	0/1:44:24:255,0,255	.	0/1:73:32:255,0,255	.	0/1:64:29:255,0,255	0/1:43:25:255,0,255	1/1:38:38:255,114,0	.	0/1:42:18:255,0,255	.	.	0/1:38:16:255,0,255	1/1:33:33:255,99,0	0/1:52:21:255,0,255	0/1:29:17:255,0,255	0/1:41:26:255,0,255	0/1:48:19:255,0,255	0/1:51:25:255,0,255	.	1/1:15:15:255,45,0	.	.	A	G	3	13	Lethal congenital contracture syndrome 1, 253310 (3); Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)	.	Arthrogryposis & hypoplasia(CM1310812)	ATC-GTC|Ile243Val|c.727A>G|p.I243V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23421748&dopt=Abstract)	23421748|18724935|18204449|9618489	.	ORGANELLE_PART;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;PORE_COMPLEX;NUCLEUS;ORGANELLE_MEMBRANE;ENVELOPE;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;NUCLEAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;NUCLEAR_PORE;NUCLEAR_MEMBRANE_PART;PROTEIN_COMPLEX	.	.	.	.	.	PS1,PS3,BA1
L	9	135203409	rs1185193	A	C	188.77	PASS	SETX	senataxin	exonic	NM_015046	.	missense SNV	SETX:NM_015046:exon10:c.T3576G:p.D1192E	ENST00000393220.1,ENST00000224140.5,ENST00000372169.2	.	9q34.13	.	.	.	.	.	rs1185193	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000081694.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.370432	0.3681	0.640575	0.7929	0.7635	0.3062	0.323123846861	0.358173165865	0.348,T	0.006,B	0.004,B	1,P	0.000000,N	0.895,L	-1.79,D	16.3793	-2.073	-0.994	.	.	AC=16;AN=26;BQB=0.720273;DP4=52,38,67,64;DP=267;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,3,4,5,6,10,14,15,16,18,20,24;SGB=-0.651104;VDB=0.689769	GT:DP:DV:PL	0/1:15:8:233,0,170	1/1:12:12:255,36,0	.	1/1:16:16:255,48,0	0/1:18:12:255,0,146	0/1:23:10:230,0,255	0/1:15:6:134,0,196	.	.	.	0/1:16:6:194,0,234	.	.	.	0/1:14:9:245,0,146	0/1:21:11:253,0,216	0/1:25:16:255,0,182	.	0/1:23:10:202,0,255	.	1/1:11:11:255,33,0	.	.	.	0/1:12:4:101,0,204	A	C	3	10	Amyotrophic lateral sclerosis 4, juvenile, 602433 (3); Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)	.	Ataxia-ocular apraxia 2(CD148349)	AATAAG^1191AGAGatCTTGTGGGAA|c.3575_3576delAT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24760770&dopt=Abstract)	24760770|24760770|19593598|19515850|18663494|18625865|17159128|17096168|16717225|15732101|15106121|14770181|9883726|9497266	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;RNA_PROCESSING;DOUBLE_STRAND_BREAK_REPAIR;RESPONSE_TO_DNA_DAMAGE_STIMULUS	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART	DNA_HELICASE_ACTIVITY;HELICASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	9	136304497	rs3124768	A	G	225.75	PASS	ADAMTS13	ADAM metallopeptidase with thrombospondin type 1 motif, 13	exonic	NM_139025,NM_139026,NM_139027	.	synonymous SNV	ADAMTS13:NM_139025:exon15:c.A1716G:p.T572T,ADAMTS13:NM_139026:exon15:c.A1623G:p.T541T,ADAMTS13:NM_139027:exon15:c.A1716G:p.T572T	ENST00000536611.1,ENST00000371929.3,ENST00000485925.1,ENST00000356589.2,ENST00000355699.2,ENST00000371916.1	.	9q34.2	.	.	.	.	.	rs3124768	.	.	0.813953	0.8115	0.515974	0.4154	0.4718	0.8224	0.745788442573	0.817307350962	.	.	.	.	.	.	.	.	-3.511	-5.655	.	.	AC=44;AN=48;BQB=0.909714;DP4=53,28,619,272;DP=1382;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.360853;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.994573	GT:DP:DV:PL	1/1:32:32:255,96,0	.	1/1:40:40:255,120,0	0/1:46:19:255,0,255	1/1:38:38:255,114,0	1/1:42:42:255,126,0	1/1:44:44:255,132,0	1/1:47:47:255,141,0	1/1:45:45:255,135,0	1/1:25:25:255,75,0	1/1:38:38:255,114,0	1/1:23:23:255,69,0	1/1:48:48:255,144,0	1/1:55:55:255,166,0	1/1:42:42:255,126,0	1/1:37:37:255,111,0	1/1:49:48:255,110,0	1/1:28:28:255,84,0	0/1:38:23:255,0,255	0/1:46:24:255,0,255	1/1:40:40:255,120,0	1/1:49:49:255,148,0	0/1:27:11:225,0,255	1/1:49:49:255,148,0	1/1:44:44:255,132,0	A	G	20	4	Thrombotic thrombocytopenic purpura, familial, 274150 (3)	.	Reduced expression(CM1213383)	ACA-ACG|Thr572Thr|c.1716A>G|p.T572T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22768050&dopt=Abstract)	22768050|23878316|19109562|19047683|18492805|17121983|16200209|15521921|15126318|14563640|14512317|14512308|12640381|12576319|12393505|12393399|12181489|12130486|12091372|11586351|11535495|11535494|9828246|9828245|9129011|8639782|8639781|7094941|6433703	BIOPOLYMER_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;PEPTIDE_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CATABOLIC_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	INTEGRIN_BINDING;CATION_BINDING;ZINC_ION_BINDING;CALCIUM_ION_BINDING;PROTEIN_COMPLEX_BINDING;ION_BINDING;RECEPTOR_BINDING;TRANSITION_METAL_ION_BINDING	.	.	.	.	PS1,PS3,BA1
L	9	136505114	rs1108580	A	G	223.2	PASS	DBH	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	exonic	NM_000787	.	synonymous SNV	DBH:NM_000787:exon2:c.A486G:p.E162E	ENST00000393056.2	.	9q34.2	.	.	.	.	.	rs1108580	CLINSIG=Benign;CLNDBN=Dopamine_beta_hydroxylase_deficiency;CLNACC=RCV000201821.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1857209:223360	.	0.111296	0.122	0.429912	0.5732	0.4599	0.1283	0.148545470138	0.117788800481	.	.	.	.	.	.	.	.	1.057	7.397	1.428325,12.94	4.89	AC=12;AN=20;BQB=0.983548;DP4=178,74,236,110;DP=843;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.560791;SF=1,3,5,7,8,10,15,20,21,23;SGB=-0.693079;VDB=0.106981	GT:DP:DV:PL	.	0/1:54:29:255,0,255	.	0/1:47:20:255,0,255	.	0/1:95:41:255,0,255	.	0/1:59:27:255,0,255	0/1:59:32:255,0,255	.	1/1:40:40:255,120,0	.	.	.	.	0/1:34:15:255,0,255	.	.	.	.	0/1:46:22:255,0,255	1/1:74:74:255,223,0	.	0/1:90:46:255,0,255	.	A	G	2	8	[Dopamine-beta-hydroxylase activity levels, plasma] (3); Dopamine beta-hydroxylase deficiency, 223360 (3)	.	Angina pectoris, reduced risk(CM1413389)	GAG-GAA|Glu162Glu|c.486G>A|p.E162E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25326128&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25326128&dopt=Abstract)	25326128|21509519|18049838|17503507|16484499|15505174|15148402|15066288|14991826|14598346|12370425|11857564|11170900|11085595|10975602|10673769|9393852|9139828|7715704|6572968|6149647|3443096|3180847|3010116|2922261|2300263|1677923|1315305	CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	CYTOPLASM;CELL_FRACTION;MEMBRANE_FRACTION;SOLUBLE_FRACTION	.	KEGG_TYROSINE_METABOLISM	.	BIOCARTA_NEUROTRANSMITTERS_PATHWAY	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	9	139266496	rs4077515	C	T	221.14	PASS	CARD9	caspase recruitment domain family, member 9	exonic	NM_052813,NM_052814	.	missense SNV	CARD9:NM_052813:exon2:c.G35A:p.S12N,CARD9:NM_052814:exon2:c.G35A:p.S12N	ENST00000315908.7,ENST00000371734.3,ENST00000371732.5	.	9q34.3	.	.	Score=773;Name=V$AHRARNT_02	.	.	rs4077515	.	IgA nephropathy,Crohn's disease,Ulcerative colitis	0.327243	0.3214	0.366613	0.3731	0.4019	0.2912	0.266462895865	0.319711882212	0.16,T	0.003,B	0.002,B	0.999986,P	0.144278,N	-0.69,N	2.07,T	4.5111	0.013	-0.134	.	.	AC=14;AN=28;BQB=0.871039;DP4=134,211,189,174;DP=957;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998297;SF=1,2,4,5,8,9,10,12,14,16,17,19,20,21;SGB=-0.692067;VDB=0.0200151	GT:DP:DV:PL	.	0/1:32:20:255,0,255	0/1:48:27:255,0,255	.	0/1:43:20:255,0,255	0/1:122:62:255,0,255	.	.	0/1:36:16:255,0,255	0/1:30:12:255,0,255	0/1:42:20:255,0,255	.	0/1:46:27:255,0,255	.	0/1:42:23:255,0,255	.	0/1:34:24:255,0,224	0/1:29:14:244,0,255	.	0/1:56:25:255,0,255	0/1:52:24:255,0,255	0/1:96:49:255,0,255	.	.	.	C	T	0	14	Candidiasis, familial, 2, autosomal recessive, 212050 (3)	22936669(4E-6);21102463(1E-36);20228799(5E-8)	Ankylosing spondylitis, association with(CM1010097)	AGC-AAC|Ser12Asn|c.35G>A|p.S12N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20463747&dopt=Abstract)	20463747|24131138|23335372|19864672|17936701|17187069|16862125|11278692|11053425|9835960	POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;SIGNAL_TRANSDUCTION;REGULATION_OF_MAPKKK_CASCADE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;REGULATION_OF_SIGNAL_TRANSDUCTION;JNK_CASCADE;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;REGULATION_OF_JNK_CASCADE;PROTEIN_KINASE_CASCADE;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;MAPKKK_CASCADE_GO_0000165;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;POSITIVE_REGULATION_OF_MAPKKK_CASCADE;INTRACELLULAR_SIGNALING_CASCADE;STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_PATHWAY;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	CYTOPLASM	PROTEIN_DOMAIN_SPECIFIC_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_NOD_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_NOD1_2_SIGNALING_PATHWAY;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	PS1,PS3,BA1
L	9	140128085	rs28407527	T	C	225.6	PASS	SLC34A3	solute carrier family 34 (type II sodium/phosphate cotransporter), member 3	exonic	NM_001177316,NM_001177317,NM_080877	.	synonymous SNV	SLC34A3:NM_001177316:exon8:c.T757C:p.L253L,SLC34A3:NM_001177317:exon8:c.T757C:p.L253L,SLC34A3:NM_080877:exon8:c.T757C:p.L253L	ENST00000361134.2,ENST00000538474.1	.	9q34.3	.	.	.	.	.	rs28407527	.	.	0.436877	0.4673	0.455671	0.4137	0.4445	0.4903	0.405819064319	0.430288274038	.	.	.	.	.	.	.	.	0.662	1.539	.	2.26	AC=32;AN=40;BQB=0.110042;DP4=152,65,430,158;DP=1155;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991416;SF=0,1,2,4,6,7,8,9,10,11,13,14,15,16,17,20,21,22,23,24;SGB=-0.692717;VDB=0.744062	GT:DP:DV:PL	1/1:23:23:255,69,0	1/1:38:38:255,114,0	0/1:47:18:255,0,255	.	1/1:24:23:255,12,0	.	0/1:43:21:255,0,255	0/1:35:13:255,0,255	1/1:19:19:255,57,0	0/1:24:13:255,0,255	1/1:36:36:255,108,0	1/1:38:38:255,114,0	.	1/1:62:62:255,187,0	0/1:59:27:255,0,255	0/1:26:13:255,0,255	1/1:28:28:255,84,0	1/1:31:31:255,93,0	.	.	1/1:45:45:255,135,0	0/1:64:28:255,0,255	1/1:32:32:255,96,0	0/1:85:34:255,0,255	1/1:46:46:255,138,0	T	C	12	8	Hypophosphatemic rickets with hypercalciuria, 241530 (3)	.	Hereditary hypophosphataemic rickets with hypercalciuria, modifier of(CS100321)	IVS7 as T-C +1|c.757T>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20074341&dopt=Abstract)	20074341|16849419|16358215|16358214|11880379|2983203	REGULATION_OF_BIOLOGICAL_QUALITY;INORGANIC_ANION_TRANSPORT;ESTABLISHMENT_OF_LOCALIZATION;ANION_TRANSPORT;METAL_ION_TRANSPORT;TRANSPORT;HOMEOSTATIC_PROCESS;SODIUM_ION_TRANSPORT;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT	MEMBRANE_PART;MEMBRANE;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SYMPORTER_ACTIVITY;PHOSPHATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_CATION_SYMPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	PS1,PS3,BA1
L	10	13158262	rs2244380	C	T	182.14	PASS	OPTN	optineurin	splicing	NM_001008211,NM_001008212,NM_001008213,NM_021980	NM_001008211:exon7:c.553-5C>T;NM_001008212:exon6:c.553-5C>T;NM_001008213:exon7:c.553-5C>T;NM_021980:exon5:c.553-5C>T	.	.	ENST00000378748.3,ENST00000378752.3,ENST00000263036.5,ENST00000378747.3,ENST00000482140.1,ENST00000378757.2,ENST00000378764.2	.	10p13	.	.	.	.	.	rs2244380	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000178981.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.757475	0.745	0.803914	0.8189	0.8156	0.7315	0.633231398162	0.752403665865	.	.	.	.	.	.	.	.	-0.605	-0.127	.	.	AC=29;AN=42;BQB=1;DP4=106,21,212,36;DP=486;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.756987;SF=0,1,2,3,4,5,6,7,9,11,12,13,14,15,17,18,19,20,21,23,24;SGB=-0.691153;VDB=0.823967	GT:DP:DV:PL	1/1:18:18:255,54,0	0/1:21:12:227,0,247	0/1:18:9:191,0,249	0/1:18:9:237,0,207	0/1:15:4:88,0,178	1/1:19:19:255,57,0	0/1:16:8:197,0,233	0/1:26:13:255,0,244	.	0/1:16:9:169,0,167	.	0/1:15:8:245,0,231	0/1:13:5:94,0,236	1/1:10:10:252,30,0	0/1:20:7:159,0,255	0/1:20:8:207,0,255	.	1/1:17:17:255,51,0	1/1:24:24:255,72,0	1/1:19:19:255,57,0	0/1:18:6:146,0,200	0/1:20:11:221,0,233	.	1/1:18:18:255,54,0	1/1:14:14:255,42,0	C	T	8	13	Glaucoma 1, open angle, E, 137760 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Amyotrophic lateral sclerosis 12, 613435 (3)	.	Glaucoma 1, open angle, association with(CS045331)	IVS6 as C-T -5|c.553-5C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15312511&dopt=Abstract)	15312511|26266977|25943890|22854040|21825243|21617041|20428114|20388642|18552856|18307994|17663725|17389490|15557444|12811537|12379221|11834836|11137014|10807909|10756201|9700202|9497264|9488477	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SIGNAL_TRANSDUCTION;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;MACROMOLECULE_LOCALIZATION;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	PS1,PS3,BA1
L	10	13166076	rs523747	A	G	224.76	PASS	OPTN	optineurin	exonic	NM_001008211,NM_001008212,NM_001008213,NM_021980	.	missense SNV	OPTN:NM_021980:exon8:c.A964G:p.K322E,OPTN:NM_001008212:exon9:c.A964G:p.K322E,OPTN:NM_001008211:exon10:c.A964G:p.K322E,OPTN:NM_001008213:exon10:c.A964G:p.K322E	ENST00000378748.3,ENST00000378752.3,ENST00000263036.5,ENST00000378747.3,ENST00000378757.2,ENST00000378764.2	.	10p13	.	.	.	.	.	rs523747	.	.	1	1	0.993411	0.9906	0.9973	1	0.908116140888	0.992788449519	1.0,T	0.0,B	0.0,B	0.999999,P	0.000004,N	-2.135,N	-1.92,D	14.7871	1.644	6.047	1.295201,12.24	6.17	AC=50;AN=50;DP4=0,0,165,177;DP=481;MQ0F=0;MQ=60;MQSB=1.00775;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.0561217	GT:DP:DV:PL	1/1:10:10:255,30,0	1/1:17:17:255,51,0	1/1:7:7:237,21,0	1/1:15:15:255,45,0	1/1:10:10:255,30,0	1/1:23:23:255,69,0	1/1:19:19:255,57,0	1/1:10:10:255,30,0	1/1:16:16:255,48,0	1/1:13:13:255,39,0	1/1:15:15:255,45,0	1/1:11:11:255,33,0	1/1:17:17:255,51,0	1/1:7:7:201,21,0	1/1:11:11:255,33,0	1/1:9:9:255,27,0	1/1:19:19:255,57,0	1/1:12:12:255,36,0	1/1:16:16:255,48,0	1/1:14:14:255,42,0	1/1:13:13:255,39,0	1/1:14:14:255,42,0	1/1:7:7:246,21,0	1/1:19:19:255,57,0	1/1:18:18:255,54,0	A	G	25	0	Glaucoma 1, open angle, E, 137760 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Amyotrophic lateral sclerosis 12, 613435 (3)	.	Glaucoma 1, open angle(CM095002)	GAA-AAA|Glu322Lys|c.964G>A|p.E322K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19710941&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	19710941|20981092|26266977|25943890|22854040|21825243|21617041|20428114|20388642|18552856|18307994|17663725|17389490|15557444|12811537|12379221|11834836|11137014|10807909|10756201|9700202|9497264|9488477	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SIGNAL_TRANSDUCTION;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;MACROMOLECULE_LOCALIZATION;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	PS1,PS3,BA1
L	10	16982061	rs2271462	C	T	108.84	PASS	CUBN	cubilin (intrinsic factor-cobalamin receptor)	exonic	NM_001081	.	missense SNV	CUBN:NM_001081:exon37:c.G5518A:p.G1840S	ENST00000377833.4	.	10p13	.	.	.	.	.	rs2271462	.	.	0.169435	0.1627	0.117612	0.0573	0.0693	0.1730	0.146247741194	0.185096009615	0.083,T	0.43,B	0.962,D	0.00989009,P	0.031636,N	1.62,L	2.33,T	15.8846	1.635	1.546	2.557620,19.84	5.27	AC=15;AN=26;BQB=0.649731;DP4=58,6,53,14;DP=179;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.974597;MQSB=0.924584;RPB=0.730948;SF=3,7,8,10,15,16,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.220638	GT:DP:DV:PL	.	.	.	0/1:9:4:94,0,132	.	.	.	0/1:6:2:56,0,121	0/1:4:3:81,0,48	.	1/1:9:9:255,27,0	.	.	.	.	0/1:14:5:109,0,244	0/1:15:5:154,0,250	.	0/1:10:7:156,0,76	0/1:14:6:173,0,227	0/1:10:5:183,0,165	1/1:8:8:173,24,0	0/1:4:3:123,0,48	0/1:16:4:85,0,255	0/1:12:6:197,0,210	C	T	2	11	Megaloblastic anemia-1, Finnish type, 261100 (3)	.	Nephrotic syndrome, steroid resistant(CM156562)	GGC-AGC|Gly1840Ser|c.5518G>A|p.G1840S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25349199&dopt=Abstract)	25349199|21208123|20237569|14576052|11717447|10887099|10552972|10371504|10080186|9572993|9478979|9334227|9153271|8510165|7573042|1848001	ESTABLISHMENT_OF_LOCALIZATION;VITAMIN_TRANSPORT;TRANSPORT	MEMBRANE	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;RECEPTOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	10	43606687	rs1800860	A	G	225.75	PASS	RET	ret proto-oncogene	exonic	NM_020630,NM_020975	.	synonymous SNV	RET:NM_020630:exon7:c.A1296G:p.A432A,RET:NM_020975:exon7:c.A1296G:p.A432A	ENST00000355710.3,ENST00000340058.5	.	10q11.21	.	.	.	.	.	rs1800860	CLINSIG=Benign|Benign;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000082048.5|RCV000131068.2;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009	.	0.810631	0.8006	0.77516	0.7486	0.7061	0.8075	0.749616947933	0.807692141827	.	.	.	.	.	.	.	.	0.030	0.281	.	.	AC=39;AN=48;BQB=0.312899;DP4=233,68,1174,298;DP=2398;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.471696;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.13504	GT:DP:DV:PL	1/1:67:67:255,202,0	1/1:76:76:255,229,0	1/1:76:76:255,229,0	1/1:63:63:255,190,0	0/1:47:25:255,0,255	1/1:115:114:255,255,0	1/1:71:71:255,214,0	1/1:69:69:255,208,0	1/1:70:70:255,211,0	0/1:44:22:255,0,255	0/1:72:38:255,0,255	1/1:67:67:255,202,0	0/1:56:22:255,0,255	1/1:110:110:255,255,0	1/1:64:64:255,193,0	1/1:52:52:255,157,0	0/1:82:39:255,0,255	.	0/1:58:31:255,0,255	1/1:67:66:255,165,0	0/1:78:40:255,0,255	0/1:133:71:255,0,255	0/1:35:18:255,0,255	1/1:91:91:255,255,0	1/1:110:110:255,255,0	A	G	15	9	Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)	.	Hirschsprung disease, association with(CM033447)	GCA-GCG|Ala432Ala|c.1296A>G|p.A432A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14627689&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15933516&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21349203&dopt=Abstract)	14627689|15933516|21349203|25079320|24429398|24152999|21490379|20598273|20442138|20089534|18273880|18252215|18073307|17898100|17895320|17322904|17108762|16986122|16979782|16556802|16443855|16118333|16091499|15956201|15870131|15829955|15827097|15805159|15759212|15741265|15569713|15548547|15340065|15292360|15240649|15240641|15138456|14602786|14600022|14561800|14557473|12920301|12915470|12788868|12694233|12640453|12519890|12474140|12466368|12355085|12214285|12195422|12116277|12063395|12000816|11953745|11932334|11932300|11788682|11753660|11589684|11562352|11502806|11454140|11436122|11390647|11318605|11238493|11138002|11103773|11061555|10982477|10980580|10922382|10921886|10777380|10675330|10528857|10522989|10521317|10439047|10337992|10323403|10090908|10024437|9880212|9760196|9727738|9700200|9621513|9620546|9506763|9506724|9502784|9497256|9443391|9398735|9384613|9353177|9111993|9111992|9097963|9090527|9067749|8894691|8872055|8826440|8825918|8782503|8757765|8413267|8306871|8114940|8114939|8114938|8103403|8099202|8093642|8084609|8001158|7977365|7915165|7914213|7911697|7907913|7906866|7906865|7906417|7904208|7849700|7845675|7824936|7784092|7633441|7607068|7581377|7536460|7478601|3697657|3078962|2992805|2904651|2687772|2660074|2406025|2216455|1569189|1542652	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ORGAN_DEVELOPMENT	.	RECEPTOR_ACTIVITY	KEGG_ENDOCYTOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_THYROID_CANCER	PID_RET_PATHWAY;PID_AJDISS_2PATHWAY	.	.	PS1,PS3,BA1
L	10	43610119	rs1799939	G	A	221.88	PASS	RET	ret proto-oncogene	exonic	NM_020630,NM_020975	.	missense SNV	RET:NM_020630:exon11:c.G2071A:p.G691S,RET:NM_020975:exon11:c.G2071A:p.G691S	ENST00000355710.3,ENST00000340058.5	.	10q11.21	.	.	.	.	.	rs1799939	CLINSIG=Benign|Benign|Benign|Benign;CLNDBN=No_MEN2_disease|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000021841.1|RCV000034769.2|RCV000039052.7|RCV000162947.1;CLNDSDB=.|MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=.|CN221809|CN169374|C0027672:699346009	.	0.127907	0.121	0.169129	0.1570	0.2033	0.1094	0.11408897856	0.116586549279	0.178,T	0.016,B	0.103,B	1,P	0.003826,N	0.55,N	-1.05,T	9.2584	-0.060	4.398	0.955444,10.40	.	AC=8;AN=16;BQB=0.541104;DP4=162,173,158,165;DP=909;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.493258;SF=4,9,10,12,16,17,20,21;SGB=-0.693127;VDB=0.0138436	GT:DP:DV:PL	.	.	.	.	0/1:64:33:255,0,255	.	.	.	.	0/1:54:15:255,0,255	0/1:81:44:255,0,255	.	0/1:71:40:255,0,255	.	.	.	0/1:62:31:255,0,255	0/1:54:30:255,0,255	.	.	0/1:89:38:255,0,255	0/1:183:92:255,0,255	.	.	.	G	A	0	8	Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)	.	Hirschsprung disease, association with(CM023821)	GGT-AGT|Gly691Ser|c.2071G>A|p.G691S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10528857&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16118333&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	10528857|16118333|24728327|25079320|24429398|24152999|21490379|20598273|20442138|20089534|18273880|18252215|18073307|17898100|17895320|17322904|17108762|16986122|16979782|16556802|16443855|16118333|16091499|15956201|15870131|15829955|15827097|15805159|15759212|15741265|15569713|15548547|15340065|15292360|15240649|15240641|15138456|14602786|14600022|14561800|14557473|12920301|12915470|12788868|12694233|12640453|12519890|12474140|12466368|12355085|12214285|12195422|12116277|12063395|12000816|11953745|11932334|11932300|11788682|11753660|11589684|11562352|11502806|11454140|11436122|11390647|11318605|11238493|11138002|11103773|11061555|10982477|10980580|10922382|10921886|10777380|10675330|10528857|10522989|10521317|10439047|10337992|10323403|10090908|10024437|9880212|9760196|9727738|9700200|9621513|9620546|9506763|9506724|9502784|9497256|9443391|9398735|9384613|9353177|9111993|9111992|9097963|9090527|9067749|8894691|8872055|8826440|8825918|8782503|8757765|8413267|8306871|8114940|8114939|8114938|8103403|8099202|8093642|8084609|8001158|7977365|7915165|7914213|7911697|7907913|7906866|7906865|7906417|7904208|7849700|7845675|7824936|7784092|7633441|7607068|7581377|7536460|7478601|3697657|3078962|2992805|2904651|2687772|2660074|2406025|2216455|1569189|1542652	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ORGAN_DEVELOPMENT	.	RECEPTOR_ACTIVITY	KEGG_ENDOCYTOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_THYROID_CANCER	PID_RET_PATHWAY;PID_AJDISS_2PATHWAY	.	.	PS1,PS3,BA1
L	10	43613843	rs1800861	G	T	224.16	PASS	RET	ret proto-oncogene	exonic	NM_020630,NM_020975	.	synonymous SNV	RET:NM_020630:exon13:c.G2307T:p.L769L,RET:NM_020975:exon13:c.G2307T:p.L769L	ENST00000355710.3,ENST00000340058.5	.	10q11.21	.	.	.	.	.	rs1800861	CLINSIG=Benign|Benign|Benign|Benign\x2cBenign;CLNDBN=No_MEN2_disease|not_provided|not_specified|Multiple_endocrine_neoplasia\x2c_type_2\x2cnot_specified;CLNACC=RCV000021844.1|RCV000127779.1|RCV000154625.1|RCV000203706.1,RCV000153835.3;CLNDSDB=.|MedGen|MedGen|MedGen:Orphanet:SNOMED_CT\x2cMedGen;CLNDSDBID=.|CN221809|CN169374|CN073359:ORPHA653:61808009\x2cCN169374	.	0.486711	0.4742	0.71246	0.8026	0.7419	0.4999	0.460949235835	0.489182670673	.	.	.	.	.	.	.	.	1.339	1.230	1.071907,11.06	3.66	AC=26;AN=38;BQB=0.967472;DP4=185,73,328,118;DP=977;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.280505;SF=1,2,3,4,6,9,10,11,12,13,15,16,17,18,19,20,21,22,23;SGB=-0.686358;VDB=0.563998	GT:DP:DV:PL	.	0/1:26:14:255,0,255	1/1:37:37:255,111,0	0/1:43:15:255,0,255	0/1:42:22:255,0,255	.	1/1:35:35:255,105,0	.	.	0/1:21:12:255,0,255	0/1:29:15:255,0,255	1/1:29:29:255,87,0	0/1:55:20:255,0,255	0/1:53:29:255,0,255	.	0/1:37:15:255,0,255	1/1:46:46:255,138,0	1/1:24:24:255,72,0	1/1:27:27:255,81,0	0/1:29:13:255,0,255	0/1:40:18:255,0,255	0/1:47:21:255,0,255	1/1:21:21:255,63,0	0/1:63:33:255,0,255	.	G	T	7	12	Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)	.	Hirschsprung disease, association with(CM014825)	CTT-CTG|Leu769Leu|c.2307T>G|p.L769L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10528857&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16118333&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23059849&dopt=Abstract)	10528857|16118333|23059849|25079320|24429398|24152999|21490379|20598273|20442138|20089534|18273880|18252215|18073307|17898100|17895320|17322904|17108762|16986122|16979782|16556802|16443855|16118333|16091499|15956201|15870131|15829955|15827097|15805159|15759212|15741265|15569713|15548547|15340065|15292360|15240649|15240641|15138456|14602786|14600022|14561800|14557473|12920301|12915470|12788868|12694233|12640453|12519890|12474140|12466368|12355085|12214285|12195422|12116277|12063395|12000816|11953745|11932334|11932300|11788682|11753660|11589684|11562352|11502806|11454140|11436122|11390647|11318605|11238493|11138002|11103773|11061555|10982477|10980580|10922382|10921886|10777380|10675330|10528857|10522989|10521317|10439047|10337992|10323403|10090908|10024437|9880212|9760196|9727738|9700200|9621513|9620546|9506763|9506724|9502784|9497256|9443391|9398735|9384613|9353177|9111993|9111992|9097963|9090527|9067749|8894691|8872055|8826440|8825918|8782503|8757765|8413267|8306871|8114940|8114939|8114938|8103403|8099202|8093642|8084609|8001158|7977365|7915165|7914213|7911697|7907913|7906866|7906865|7906417|7904208|7849700|7845675|7824936|7784092|7633441|7607068|7581377|7536460|7478601|3697657|3078962|2992805|2904651|2687772|2660074|2406025|2216455|1569189|1542652	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ORGAN_DEVELOPMENT	.	RECEPTOR_ACTIVITY	KEGG_ENDOCYTOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_THYROID_CANCER	PID_RET_PATHWAY;PID_AJDISS_2PATHWAY	.	.	PS1,PS3,BA1
L	10	43615633	rs1800863	C	G	207.75	PASS	RET	ret proto-oncogene	exonic	NM_020630,NM_020975	.	synonymous SNV	RET:NM_020630:exon15:c.C2712G:p.S904S,RET:NM_020975:exon15:c.C2712G:p.S904S	ENST00000355710.3,ENST00000340058.5	.	10q11.21	.	.	Score=938;Name=V$HSF2_01	.	.	rs1800863	CLINSIG=Benign|Benign|Benign;CLNDBN=No_MEN2_disease|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000021879.1|RCV000039053.7|RCV000162948.1;CLNDSDB=.|MedGen|MedGen:SNOMED_CT;CLNDSDBID=.|CN169374|C0027672:699346009	.	0.127907	0.121	0.172524	0.1610	0.2057	0.1097	0.114854430322	0.115384633413	.	.	.	.	.	.	.	.	0.731	-0.564	1.779737,14.87	3.74	AC=8;AN=16;BQB=0.468665;DP4=60,51,49,60;DP=293;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.018525;SF=4,9,10,12,16,17,20,21;SGB=-0.651104;VDB=0.149607	GT:DP:DV:PL	.	.	.	.	0/1:21:8:166,0,255	.	.	.	.	0/1:24:11:255,0,255	0/1:20:9:255,0,255	.	0/1:22:14:255,0,212	.	.	.	0/1:27:19:255,0,216	0/1:27:11:231,0,255	.	.	0/1:37:19:255,0,255	0/1:42:18:255,0,255	.	.	.	C	G	0	8	Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3); Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)	.	Hirschsprung disease, association with(CM023822)	TCC-TCG|Ser904Ser|c.2712C>G|p.S904S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10528857&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16118333&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23059849&dopt=Abstract)	10528857|16118333|23059849|25079320|24429398|24152999|21490379|20598273|20442138|20089534|18273880|18252215|18073307|17898100|17895320|17322904|17108762|16986122|16979782|16556802|16443855|16118333|16091499|15956201|15870131|15829955|15827097|15805159|15759212|15741265|15569713|15548547|15340065|15292360|15240649|15240641|15138456|14602786|14600022|14561800|14557473|12920301|12915470|12788868|12694233|12640453|12519890|12474140|12466368|12355085|12214285|12195422|12116277|12063395|12000816|11953745|11932334|11932300|11788682|11753660|11589684|11562352|11502806|11454140|11436122|11390647|11318605|11238493|11138002|11103773|11061555|10982477|10980580|10922382|10921886|10777380|10675330|10528857|10522989|10521317|10439047|10337992|10323403|10090908|10024437|9880212|9760196|9727738|9700200|9621513|9620546|9506763|9506724|9502784|9497256|9443391|9398735|9384613|9353177|9111993|9111992|9097963|9090527|9067749|8894691|8872055|8826440|8825918|8782503|8757765|8413267|8306871|8114940|8114939|8114938|8103403|8099202|8093642|8084609|8001158|7977365|7915165|7914213|7911697|7907913|7906866|7906865|7906417|7904208|7849700|7845675|7824936|7784092|7633441|7607068|7581377|7536460|7478601|3697657|3078962|2992805|2904651|2687772|2660074|2406025|2216455|1569189|1542652	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ORGAN_DEVELOPMENT	.	RECEPTOR_ACTIVITY	KEGG_ENDOCYTOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_THYROID_CANCER	PID_RET_PATHWAY;PID_AJDISS_2PATHWAY	.	.	PS1,PS3,BA1
L	10	54528266	rs930507	G	C	224.36	PASS	MBL2	mannose-binding lectin (protein C) 2, soluble	exonic	NM_000242	.	synonymous SNV	MBL2:NM_000242:exon4:c.C378G:p.L126L	ENST00000373968.3	.	10q21.1	.	.	.	.	.	rs930507	.	.	0.729236	0.7302	0.738818	0.7706	0.8041	0.7616	0.60413476876	0.700721252404	.	.	.	.	.	.	.	.	-1.613	-1.293	.	.	AC=37;AN=44;BQB=0.91051;DP4=64,55,307,249;DP=924;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.661373;SF=0,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.693143;VDB=0.00425326	GT:DP:DV:PL	1/1:38:38:255,114,0	.	1/1:31:31:255,93,0	1/1:31:31:255,93,0	1/1:27:27:255,81,0	0/1:39:15:255,0,255	1/1:24:24:255,72,0	1/1:33:33:255,99,0	0/1:30:22:255,0,127	.	1/1:29:29:255,87,0	0/1:27:13:255,0,255	1/1:25:25:255,75,0	1/1:42:42:255,126,0	1/1:23:23:255,69,0	0/1:44:18:255,0,255	0/1:37:16:255,0,255	1/1:25:25:255,75,0	1/1:28:28:255,84,0	.	1/1:20:20:255,60,0	0/1:43:21:255,0,255	0/1:11:7:220,0,99	1/1:37:37:255,111,0	1/1:31:31:255,93,0	G	C	15	7	{Chronic infections, due to MBL deficiency}, 614372 (3)	.	Increased serum MBL level(CM068190)	CTG-CTC|Leu126Leu|c.378G>C|p.L126L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16750996&dopt=Abstract)	16750996|21091907|18292811|17158822|16912583|15994813|15749852|15472209|15286159|15254284|12934195|12100727|11333866|10888598|10866448|10449435|10199352|9752823|9501312|9014910|8990007|8206524|7894166|7707811|7564730|6433145|3679285|2590164|2477486|2450948|1675710|1672848|1458688|1304173|1303250	POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;DEFENSE_RESPONSE;POSITIVE_REGULATION_OF_IMMUNE_RESPONSE;POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;IMMUNE_EFFECTOR_PROCESS;INFLAMMATORY_RESPONSE;ACTIVATION_OF_IMMUNE_RESPONSE;RESPONSE_TO_STRESS;IMMUNE_RESPONSE;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_RESPONSE_TO_STIMULUS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;ACUTE_INFLAMMATORY_RESPONSE;INNATE_IMMUNE_RESPONSE;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;HUMORAL_IMMUNE_RESPONSE;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_IMMUNE_SYSTEM_PROCESS;REGULATION_OF_IMMUNE_RESPONSE	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	RECEPTOR_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_CREATION_OF_C4_AND_C2_ACTIVATORS;REACTOME_INITIAL_TRIGGERING_OF_COMPLEMENT	PS1,PS3,BA1
L	10	64415184	rs7076156	A	G	225.33	PASS	ZNF365	zinc finger protein 365	exonic	NM_199452	.	missense SNV	ZNF365:NM_199452:exon4:c.A184G:p.T62A	ENST00000395249.1,ENST00000395251.1,ENST00000410046.3	.	10q21.2	.	.	.	.	.	rs7076156	CLINSIG=other;CLNDBN=Uric_acid_nephrolithiasis\x2c_susceptibility_to;CLNACC=RCV000002951.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2700426:605990	Crohn's disease	0.89701	0.8968	0.871206	0.8056	0.7939	0.9113	0.816232738132	0.903846141827	0.847,T	0.001,B	0.0,B	1,P	.	0,N	0.71,T	10.4398	-2.089	-2.262	.	.	AC=42;AN=48;BQB=0.606149;DP4=195,39,1087,259;DP=2141;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.290472;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.137141	GT:DP:DV:PL	0/1:78:31:255,0,255	1/1:51:51:255,154,0	0/1:72:27:255,0,255	1/1:53:53:255,160,0	1/1:72:72:255,217,0	1/1:82:82:255,247,0	1/1:71:71:255,214,0	1/1:53:53:255,160,0	1/1:75:75:255,226,0	1/1:52:52:255,157,0	1/1:63:63:255,190,0	0/1:79:29:255,0,255	1/1:45:45:255,135,0	.	1/1:51:51:255,154,0	1/1:68:68:255,205,0	1/1:73:73:255,220,0	0/1:64:31:255,0,255	1/1:68:68:255,205,0	1/1:68:68:255,205,0	0/1:70:28:255,0,255	1/1:91:91:255,255,0	0/1:29:12:227,0,255	1/1:63:63:255,190,0	1/1:89:89:255,255,0	A	G	18	6	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)	22412388(7E-9)	Uric acid nephrolithiasis, association with(CM033482)	GCC-ACC|Ala62Thr|c.184G>A|p.A62T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12740763&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21257989&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24476815&dopt=Abstract)	12740763|21257989|24476815|26073781|16617106|12740763|10048485	.	.	.	.	.	.	.	PS1,PS3,BA1
L	10	70641860	rs1341667	T	C	226.72	PASS	STOX1	storkhead box 1	exonic	NM_001130159,NM_001130160,NM_001130161,NM_152709	.	missense SNV	STOX1:NM_001130159:exon2:c.T457C:p.Y153H,STOX1:NM_001130160:exon2:c.T457C:p.Y153H,STOX1:NM_001130161:exon2:c.T457C:p.Y153H,STOX1:NM_152709:exon2:c.T457C:p.Y153H	ENST00000399165.4,ENST00000298596.6,ENST00000399162.2,ENST00000399169.4,ENST00000421961.2	.	10q22.1	.	.	Score=820;Name=V$HNF1_C	.	.	rs1341667	CLINSIG=other;CLNDBN=Preeclampsia/eclampsia_4;CLNACC=RCV000001789.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1836255:609404	.	0.928571	0.9008	0.61242	0.5717	0.6231	0.9041	0.834609101072	0.917067129808	0.186,T	0.231,B	0.687,P	0.0761196,P	0.000056,U	0.605,N	-1.03,T	11.6046	1.055	3.026	3.799486,23.4	4.44	AC=45;AN=50;BQB=0.999287;DP4=31,34,238,362;DP=865;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982333;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692976;VDB=0.0814777	GT:DP:DV:PL	1/1:26:26:255,78,0	1/1:27:27:255,81,0	1/1:29:29:255,87,0	1/1:29:29:255,87,0	1/1:29:29:255,87,0	1/1:27:27:255,81,0	1/1:31:31:255,93,0	0/1:32:17:255,0,255	0/1:28:17:255,0,255	1/1:26:26:255,78,0	0/1:25:13:255,0,255	1/1:30:30:255,90,0	1/1:22:22:255,66,0	1/1:26:26:255,78,0	1/1:15:15:255,45,0	1/1:25:25:255,75,0	0/1:38:23:255,0,255	1/1:17:17:255,51,0	0/1:35:23:255,0,255	1/1:22:22:255,66,0	1/1:26:26:255,78,0	1/1:40:40:255,120,0	1/1:9:9:253,27,0	1/1:24:24:255,72,0	1/1:27:27:255,81,0	T	C	20	5	Preeclampsia/eclampsia 4, 609404 (3)	.	Preeclampsia(CM057373)	TAC-CAC|Tyr153His|c.457T>C|p.Y153H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15806103&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20400461&dopt=Abstract)	15806103|20981092|20400461|20400461|17325670|17290274|17024365|15806103	.	.	.	.	.	.	.	PS1,PS3,BA1
L	10	71332204	rs4536103	A	G	218.91	PASS	NEUROG3	neurogenin 3	exonic	NM_020999	.	missense SNV	NEUROG3:NM_020999:exon2:c.T596C:p.F199S	ENST00000242462.4	CpG: 133	10q22.1	.	.	.	.	.	rs4536103	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000117780.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.310631	0.3125	0.429912	0.5878	0.5860	0.3655	0.280244721286	0.307692141827	1.0,T	0.0,B	0.0,B	1,P	0.023369,N	-1.1,N	-3.14,D	9.496	0.643	1.496	.	2.94	AC=11;AN=22;BQB=0.62768;DP4=160,73,138,72;DP=575;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979427;SF=3,4,5,6,11,13,15,18,19,20,22;SGB=-0.692562;VDB=0.0213061	GT:DP:DV:PL	.	.	.	0/1:40:22:255,0,255	0/1:31:16:255,0,255	0/1:59:26:255,0,255	0/1:43:27:255,0,255	.	.	.	.	0/1:33:12:254,0,255	.	0/1:46:22:255,0,255	.	0/1:27:9:222,0,255	.	.	0/1:44:21:255,0,255	0/1:47:22:255,0,255	0/1:42:20:255,0,255	.	0/1:31:13:255,0,255	.	.	A	G	0	11	Diarrhea 4, malabsorptive, congenital, 610370 (3)	.	Diabetes, type 2, association with(CM068025)	TTT-TCT|Phe199Ser|c.596T>C|p.F199S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17146417&dopt=Abstract)	17146417|22406641|21151107|18754011|16855267|12080087|11344245|10677506|9000438|9000438	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	.	KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	PID_HES_HEYPATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT	PS1,PS3,BA1
L	10	72195439	rs1904589	T	C	228	PASS	NODAL	nodal growth differentiation factor	exonic	NM_018055	.	missense SNV	NODAL:NM_018055:exon2:c.A494G:p.H165R	ENST00000287139.3,ENST00000420338.2	.	10q22.1	.	.	Score=767;Name=V$ROAZ_01	.	.	rs1904589	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000081930.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.958472	0.9563	0.665735	0.5386	0.6171	0.9487	0.864471828484	0.937500257212	0.569,T	0.0,B	0.0,B	1,P	0.728419,N	2.075,M	-0.07,T	4.0111	-0.447	0.050	.	.	AC=50;AN=50;BQB=1;DP4=0,1,988,605;DP=2091;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.906289	GT:DP:DV:PL	1/1:57:57:255,172,0	1/1:49:49:255,148,0	1/1:76:76:255,229,0	1/1:79:79:255,238,0	1/1:65:65:255,196,0	1/1:105:105:255,255,0	1/1:57:57:255,172,0	1/1:80:80:255,241,0	1/1:53:53:255,160,0	1/1:49:49:255,148,0	1/1:72:72:255,217,0	1/1:44:44:255,132,0	1/1:43:42:255,93,0	1/1:64:64:255,193,0	1/1:53:53:255,160,0	1/1:64:64:255,193,0	1/1:69:69:255,208,0	1/1:48:48:255,144,0	1/1:62:62:255,187,0	1/1:55:55:255,166,0	1/1:57:57:255,172,0	1/1:107:107:255,255,0	1/1:30:30:255,90,0	1/1:78:78:255,235,0	1/1:78:78:255,235,0	T	C	25	0	Heterotaxy, visceral, 5, 270100 (3)	.	Reduced activity(CM0911335)	CAC-CGC|His165Arg|c.494A>G|p.H165R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19553149&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25765999&dopt=Abstract)	19553149|25765999|22499809|20508035|19064609|16496285|12730124|12730123|12471260|11703930|11418863|9354794|8614825|8610013|8610012|8429908	.	.	.	KEGG_TGF_BETA_SIGNALING_PATHWAY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_NODAL	PS1,PS3,BA1
L	10	75673101	rs2227564	T	C	224	PASS	PLAU	plasminogen activator, urokinase	exonic	NM_001145031,NM_002658	.	missense SNV	PLAU:NM_001145031:exon5:c.T371C:p.L124P,PLAU:NM_002658:exon6:c.T422C:p.L141P	ENST00000372762.4,ENST00000409178.1,ENST00000412307.2,ENST00000372764.3,ENST00000494287.1,ENST00000446342.1	.	10q22.2	.	.	.	.	.	rs2227564	CLINSIG=other;CLNDBN=Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to;CLNACC=RCV000013052.2;CLNDSDB=MedGen;CLNDSDBID=C1834153	Inflammatory bowel disease	0.599668	0.6349	0.775359	0.8387	0.7546	0.6450	0.575804232772	0.617788516827	0.104,T	0.797,P	0.723,P	1,P	0.021549,N	.	-0.07,T	6.4544	0.045	0.568	.	3.07	AC=24;AN=36;BQB=0.915835;DP4=232,153,456,248;DP=1493;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.312973;SF=0,1,3,4,5,6,7,11,12,14,16,17,18,19,20,21,22,24;SGB=-0.693143;VDB=0.0180956	GT:DP:DV:PL	0/1:65:38:255,0,255	1/1:68:68:255,205,0	.	0/1:58:25:255,0,255	1/1:66:66:255,199,0	0/1:93:39:255,0,255	0/1:64:22:255,0,255	0/1:59:29:255,0,255	.	.	.	0/1:56:34:255,0,255	0/1:52:24:255,0,255	.	0/1:56:26:255,0,255	.	1/1:61:61:255,184,0	0/1:43:19:255,0,255	0/1:45:24:255,0,255	0/1:55:29:255,0,255	1/1:68:68:255,205,0	0/1:90:42:255,0,255	1/1:34:34:255,102,0	.	1/1:56:56:255,169,0	T	C	6	12	{Alzheimer disease, late-onset, susceptibility to}, 104300 (3); Quebec platelet disorder, 601709 (3)	23128233(7E-10)	Alzheimer disease, late onset, protection against(CM035594)	CCG-CTG|Pro141Leu|c.422C>T|p.P141L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12898287&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15616835&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21627387&dopt=Abstract)	12898287|15616835|21627387|20007542|18988861|16763560|16456079|16341549|15616835|15615772|12898287|12719789|12149463|11907112|11398101|6364130|3840278|3106341|2989821|2987867|2894309|2821634|2415429	SIGNAL_TRANSDUCTION;BEHAVIOR;LOCOMOTORY_BEHAVIOR;RESPONSE_TO_CHEMICAL_STIMULUS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_INTEGRIN1_PATHWAY;PID_E2F_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_INTEGRIN2_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_INTEGRIN5_PATHWAY;PID_FGF_PATHWAY	BIOCARTA_FIBRINOLYSIS_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY	REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	10	81318663	rs17886395	C	G	223.07	PASS	SFTPA2	surfactant protein A2	exonic	NM_001098668	.	missense SNV	SFTPA2:NM_001098668:exon4:c.G271C:p.A91P	ENST00000372325.2,ENST00000372327.5	.	10q22.3	.	.	.	.	.	rs17886395	.	.	0.312292	0.2986	0.223243	0.1492	0.1857	0.2975	0.27718202144	0.304086362981	1.0,T	0.0,B	0.0,B	1,P	0.015463,N	-0.02,N	-0.35,T	4.2333	0.336	0.884	.	.	AC=18;AN=30;BQB=0.792055;DP4=218,111,312,138;DP=1049;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.97443;MQSB=0.988694;RPB=0.855509;SF=1,4,5,6,7,8,9,10,12,13,15,16,17,20,22;SGB=-0.692976;VDB=0.469024	GT:DP:DV:PL	.	0/1:48:26:255,0,255	.	.	1/1:42:42:255,126,0	1/1:93:93:255,255,0	0/1:48:19:255,0,255	0/1:58:27:255,0,255	0/1:44:21:255,0,255	0/1:46:17:255,0,255	0/1:55:27:255,0,255	.	0/1:47:22:255,0,255	0/1:63:23:255,0,255	.	1/1:49:49:255,148,0	0/1:57:28:255,0,255	0/1:38:18:255,0,255	.	.	0/1:51:26:255,0,255	.	0/1:40:12:255,0,255	.	.	C	G	3	12	Pulmonary fibrosis, idiopathic, 178500 (3)	.	Tuberculosis, association with(CM067028)	GCT-CCT|Ala91Pro|c.271G>C|p.A91P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16292672&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20466729&dopt=Abstract)	16292672|20466729|19100526|11174628|8406480|1372511	.	.	.	.	PID_HNF3APATHWAY	.	.	PS1,PS3,BA1
M	10	81371729	rs1136450	C	G	214.12	PASS	SFTPA1	surfactant protein A1	exonic	NM_001093770,NM_001164644,NM_001164647,NM_005411	.	missense SNV	SFTPA1:NM_001164647:exon2:c.C148G:p.L50V,SFTPA1:NM_001093770:exon3:c.C193G:p.L65V,SFTPA1:NM_001164644:exon3:c.C148G:p.L50V,SFTPA1:NM_005411:exon3:c.C148G:p.L50V	ENST00000372308.3,ENST00000428376.2,ENST00000372313.5,ENST00000419470.2,ENST00000398636.3	.	10q22.3	.	.	.	.	.	rs1136450	.	.	.	.	.	.	0.4942	0.2657	0.130682	0.191304	1.0,T	0.0,B	0.0,B	1,P	0.402827,N	0.605,N	2.53,T	4.469	-0.788	-0.414	.	.	AC=17;AN=32;BQB=0.251063;DP4=434,397,215,543;DP=2021;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=3.79119e-09;MQSB=0.416215;RPB=0.893657;SF=0,3,4,6,10,11,13,15,16,17,18,19,20,21,23,24;SGB=-0.693021;VDB=0.0229514	GT:DP:DV:PL	0/1:73:27:255,0,255	.	.	0/1:84:36:255,0,255	0/1:95:47:255,0,255	.	0/1:96:34:227,0,255	.	.	.	0/1:104:46:255,0,255	0/1:90:41:255,0,255	.	0/1:108:44:218,0,255	.	0/1:87:32:211,0,255	0/1:84:39:255,0,255	0/1:78:35:250,0,255	0/1:72:38:255,0,255	0/1:99:41:244,0,255	0/1:97:39:255,0,255	1/1:155:155:255,255,0	.	0/1:131:50:255,0,255	0/1:136:54:255,0,255	C	G	1	15	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)	.	Idiopathic pulmonary fibrosis, association with(CM033024)	CTC-GTC|Leu50Val|c.148C>G|p.L50V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=13680361&dopt=Abstract)	13680361|24312669|22884059|16292672|14531999|13680361|11174628|11063734|11023470|10762543|9813381|8879183|8406480|3035561|3032770|2995821|2884868|1346779	.	.	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIPID_TRANSPORTER_ACTIVITY	.	PID_TOLL_ENDOGENOUS_PATHWAY;PID_HNF3APATHWAY	.	.	PS1,PS3,BA1
L	10	90771829	rs2234978	T	C	228	PASS	FAS	Fas cell surface death receptor	exonic	NM_000043,NM_152871,NM_152872	.	synonymous SNV	FAS:NM_152871:exon6:c.T579C:p.T193T,FAS:NM_000043:exon7:c.T642C:p.T214T,FAS:NM_152872:exon7:c.T642C:p.T214T	ENST00000313771.5,ENST00000355279.2,ENST00000355740.2,ENST00000352159.4,ENST00000357339.2	.	10q23.31	.	.	.	.	.	rs2234978	.	Immunoglobulin A	0.953488	0.9573	0.775359	0.6952	0.7561	0.9831	0.871362572741	0.956730391827	.	.	.	.	.	.	.	.	-0.415	-0.716	.	.	AC=50;AN=50;DP4=0,0,273,240;DP=732;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.122864	GT:DP:DV:PL	1/1:15:15:255,45,0	1/1:24:24:255,72,0	1/1:12:12:255,36,0	1/1:17:17:255,51,0	1/1:24:24:255,72,0	1/1:17:17:255,51,0	1/1:26:26:255,78,0	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:14:14:255,42,0	1/1:27:27:255,81,0	1/1:20:20:255,60,0	1/1:13:13:255,39,0	1/1:28:28:255,84,0	1/1:16:16:255,48,0	1/1:31:31:255,93,0	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:24:24:255,72,0	1/1:20:20:255,60,0	1/1:23:23:255,69,0	1/1:18:18:255,54,0	1/1:9:9:255,27,0	1/1:19:19:255,57,0	1/1:14:14:255,42,0	T	C	25	0	{Autoimmune lymphoproliferative syndrome}, 601859 (3); Squamous cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)	20694011(6E-6)	Thyroid carcinoma, association with(CM045201)	ACC-ACT|Thr214Thr|c.642C>T|p.T214T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15350189&dopt=Abstract)	15350189|20505730|20360470|19626005|19118384|18275832|18275831|17704785|16581901|16129703|15937082|15829500|15459303|15459302|15004557|12579197|12545171|12525697|12497631|12354397|11927940|11129341|11039936|10875918|10709732|10655597|10575548|10570152|10566680|10515860|10325233|10213689|10200300|10090885|9927496|9821419|9774279|9360929|9028321|8929361|8274195|7945465|7688023|7630409|7540117|7539157|7530337|7530336|7530335|4852259|4561027|4165068|2642571|1713127|1386609|1385309|1385299|1375228|1372394|1371136	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;ANTI_APOPTOSIS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	CELL_FRACTION;SOLUBLE_FRACTION	IDENTICAL_PROTEIN_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_P53_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_ALZHEIMERS_DISEASE;KEGG_PATHWAYS_IN_CANCER;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE	PID_P73PATHWAY;PID_FASPATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_HIVNEFPATHWAY;PID_TAP63PATHWAY	BIOCARTA_ASBCELL_PATHWAY;BIOCARTA_CTL_PATHWAY;BIOCARTA_FAS_PATHWAY;BIOCARTA_TCAPOPTOSIS_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_IL2RB_PATHWAY;BIOCARTA_KERATINOCYTE_PATHWAY;BIOCARTA_PML_PATHWAY;BIOCARTA_HSP27_PATHWAY	REACTOME_EXTRINSIC_PATHWAY_FOR_APOPTOSIS;REACTOME_APOPTOSIS	PS1,PS3,BA1
L	10	96039597	rs2274224	G	C	205.76	PASS	PLCE1	phospholipase C, epsilon 1	exonic	NM_001165979,NM_001288989,NM_016341	.	missense SNV	PLCE1:NM_001165979:exon19:c.G3800C:p.R1267P,PLCE1:NM_001288989:exon20:c.G4676C:p.R1559P,PLCE1:NM_016341:exon20:c.G4724C:p.R1575P	ENST00000371385.3,ENST00000371375.1,ENST00000371380.3,ENST00000596633.1,ENST00000260766.3,ENST00000425267.3	.	10q23.33	.	.	Score=805;Name=V$IRF7_01	.	.	rs2274224	.	.	0.536545	0.5377	0.486222	0.4759	0.4378	0.5496	0.491577404288	0.543269459135	0.437,T	0.0,B	0.0,B	1,P	0.164757,N	-0.55,N	1.9,T	6.471	0.920	0.796	1.510398,13.37	4.64	AC=27;AN=42;BQB=0.989565;DP4=118,52,175,79;DP=602;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.936543;SF=0,1,2,3,4,5,7,8,9,10,12,13,14,16,17,18,19,20,21,23,24;SGB=-0.692976;VDB=0.556139	GT:DP:DV:PL	1/1:26:26:255,78,0	0/1:21:8:234,0,255	0/1:19:7:196,0,255	0/1:21:8:236,0,255	0/1:12:5:151,0,209	0/1:30:10:255,0,255	.	0/1:21:9:255,0,250	0/1:16:10:255,0,187	0/1:13:5:159,0,237	1/1:22:22:255,66,0	.	1/1:17:17:255,51,0	1/1:12:12:255,36,0	0/1:25:7:188,0,255	.	0/1:26:13:255,0,255	1/1:14:14:255,42,0	0/1:28:15:255,0,234	0/1:15:9:245,0,184	0/1:23:13:255,0,255	0/1:22:14:255,0,233	.	0/1:20:9:255,0,235	1/1:21:21:255,63,0	G	C	6	15	Nephrotic syndrome, type 3, 610725 (3)	.	Oesophageal squamous cell carcinoma, reduced risk(CM1314035)	CCA-CGA|Pro1575Arg|c.4724C>G|p.P1575R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23688607&dopt=Abstract)	23688607|20591883|17086182|16483931|12444546|11877431|11022048|11022047|10819331	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_GROWTH;REGULATION_OF_MUSCLE_CONTRACTION;REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CALCIUM_MEDIATED_SIGNALING;REGULATION_OF_SIGNAL_TRANSDUCTION;ACTIVATION_OF_MAPK_ACTIVITY;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;LIPID_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;CELLULAR_CATION_HOMEOSTASIS;PHOSPHOINOSITIDE_MEDIATED_SIGNALING;GROWTH;PROTEIN_KINASE_CASCADE;REGULATION_OF_MAP_KINASE_ACTIVITY;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_LIPID_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;SMOOTH_MUSCLE_CONTRACTION_GO_0006939;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;HEART_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;SYSTEM_PROCESS;REGULATION_OF_CELL_GROWTH	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;CELL_FRACTION;CYTOSOL;MEMBRANE_FRACTION;PLASMA_MEMBRANE	LIPASE_ACTIVITY;RAS_GTPASE_BINDING;GTPASE_REGULATOR_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;ENZYME_REGULATOR_ACTIVITY;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;SMALL_GTPASE_BINDING;PHOSPHOLIPASE_ACTIVITY;GTPASE_BINDING;ENZYME_BINDING;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	PID_RAS_PATHWAY	BIOCARTA_PLCE_PATHWAY	.	PS1,PS3,BA1
L	10	101604207	rs3740066	C	T	219	PASS	ABCC2	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	exonic	NM_000392	.	synonymous SNV	ABCC2:NM_000392:exon28:c.C3972T:p.I1324I	ENST00000370449.4	.	10q24.2	.	.	.	.	.	rs3740066	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000176843.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.245847	0.247	0.288139	0.3335	0.3420	0.2422	0.209035238897	0.2512016875	.	.	.	.	.	.	.	.	0.211	0.037	2.295280,18.14	.	AC=12;AN=20;BQB=0.994657;DP4=92,73,110,83;DP=487;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.70974;SF=1,4,5,7,10,12,17,19,20,22;SGB=-0.691153;VDB=0.231556	GT:DP:DV:PL	.	0/1:34:18:255,0,255	.	.	1/1:45:45:255,135,0	0/1:45:17:250,0,255	.	0/1:40:19:255,0,255	.	.	0/1:51:18:255,0,255	.	0/1:28:13:255,0,255	.	.	.	.	0/1:36:15:255,0,255	.	0/1:39:15:255,0,255	1/1:26:26:255,78,0	.	0/1:14:7:220,0,213	.	.	C	T	2	8	Dubin-Johnson syndrome, 237500 (3)	.	Intrahepatic cholestasis of pregnancy, association with(CM080009)	ATC-ATT|Ile1324Ile|c.3972C>T|p.I1324I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17997497&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21541183&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25087612&dopt=Abstract)	17997497|21541183|25087612|22676135|21044052|12942343|11477083|10053008|9878557|9525973|9434955|9425227|9284939|9038871|8797578|8599091|8235715|5532959	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	10	103991381	rs2281983	G	A	215.33	PASS	PITX3	paired-like homeodomain 3	exonic	NM_005029	.	synonymous SNV	PITX3:NM_005029:exon3:c.C285T:p.I95I	ENST00000539804.1,ENST00000370002.3	CpG: 151	10q24.32	.	.	.	.	.	rs2281983	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000177223.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.770764	0.7718	0.664137	0.6632	0.6470	0.7828	0.770764	0.758413387019	.	.	.	.	.	.	.	.	1.008	-0.229	2.500478,19.47	2.52	AC=39;AN=48;BQB=0.564718;DP4=145,12,554,47;DP=1020;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.821;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.69168;VDB=0.34786	GT:DP:DV:PL	1/1:19:19:255,57,0	1/1:27:27:255,81,0	1/1:49:49:255,148,0	0/1:41:16:255,0,255	1/1:25:25:255,75,0	1/1:42:42:255,126,0	1/1:35:35:255,105,0	0/1:29:10:201,0,255	0/1:31:14:190,0,255	1/1:23:23:255,69,0	0/1:32:14:255,0,255	1/1:38:38:255,114,0	0/1:28:8:126,0,255	0/1:35:24:255,0,222	1/1:29:29:255,87,0	0/1:31:18:255,0,206	1/1:26:26:255,78,0	1/1:30:30:255,90,0	1/1:26:26:255,78,0	1/1:26:26:255,78,0	0/1:29:17:255,0,229	0/1:44:22:255,0,255	1/1:19:19:255,57,0	1/1:44:44:255,132,0	.	G	A	15	9	Anterior segment mesenchymal dysgenesis, 107250 (3); Cataract 11, multiple types, 610623 (3); Cataract 11, syndromic, 610623 (3)	.	Parkinson disease, association with(CM116542)	ATC-ATT|Ile95Ile|c.285C>T|p.I95I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21469209&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22411443&dopt=Abstract)	21469209|22411443|18989383|17761882|16565358|16477036|15286169|10861284|10372733|10361984|9620774|9328475|6801987	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	.	.	.	PS1,PS3,BA1
L	10	105801253	rs4918079	G	A	224	PASS	COL17A1	collagen, type XVII, alpha 1	exonic	NM_000494	.	synonymous SNV	COL17A1:NM_000494:exon37:c.C2595T:p.R865R	ENST00000369733.3,ENST00000353479.5	.	10q25.1	.	.	Score=873;Name=V$NMYC_01	.	.	rs4918079	.	.	0.780731	0.7589	0.673922	0.7181	0.7725	0.7881	0.730474779479	0.793269317308	.	.	.	.	.	.	.	.	-0.267	-0.910	1.740200,14.64	.	AC=44;AN=48;BQB=0.969632;DP4=53,35,486,413;DP=1419;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993307;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.556742	GT:DP:DV:PL	1/1:46:46:255,138,0	0/1:35:16:255,0,255	1/1:40:40:255,120,0	1/1:37:37:255,111,0	.	1/1:67:67:255,202,0	1/1:35:35:255,105,0	1/1:48:48:255,144,0	1/1:26:26:255,78,0	1/1:19:19:255,57,0	1/1:44:44:255,132,0	1/1:34:34:255,102,0	1/1:41:41:255,123,0	1/1:47:47:255,141,0	0/1:51:24:255,0,255	1/1:35:35:255,105,0	0/1:48:21:255,0,255	1/1:34:34:255,102,0	1/1:33:33:255,99,0	1/1:39:39:255,117,0	1/1:38:38:255,111,0	1/1:52:52:255,157,0	0/1:22:7:184,0,255	1/1:55:55:255,166,0	1/1:61:61:255,184,0	G	A	20	4	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa, junctional, localisata variant, 226650 (3); Epithelial recurrent erosion dystrophy, 122400 (3)	.	Ossification of posterior longitudinal ligament, association with(CM144867)	CGC-CGT|Arg865Arg|c.2595C>T|p.R865R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24668667&dopt=Abstract)	24668667|25676728|16252234|15289135|14562173|12356719|10951237|10652291|10577906|10398261|10330419|9748270|9740252|9727841|9457914|9457913|9204958|9199555|9038345|9012408|8673116|8629821|8473327|8432531|7883981|7550320|7092249|2663347|2045679|1748679|1698819|1497743	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_SUBSTRATE_ADHESION;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_JUNCTION;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_CELL_JUNCTION_ORGANIZATION	PS1,PS3,BA1
L	10	105816916	rs805698	C	T	225.16	PASS	COL17A1	collagen, type XVII, alpha 1	exonic	NM_000494	.	missense SNV	COL17A1:NM_000494:exon17:c.G1282A:p.G428S	ENST00000369733.3,ENST00000353479.5	.	10q25.1	.	.	.	.	.	rs805698	.	.	0.89701	0.8829	0.81849	0.8489	0.9357	0.8875	0.817764180704	0.896634591346	0.356,T	0.001,B	0.001,B	1,P	0.939522,N	0.345,N	-2.67,D	8.3843	0.065	0.881	.	.	AC=46;AN=50;BQB=0.604224;DP4=46,32,500,201;DP=1195;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.262033;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693079;VDB=0.143948	GT:DP:DV:PL	1/1:29:29:255,87,0	1/1:25:25:255,75,0	1/1:26:26:255,78,0	1/1:34:34:255,102,0	0/1:29:14:255,0,255	1/1:64:64:255,193,0	1/1:23:23:255,69,0	1/1:28:28:255,84,0	1/1:28:28:255,84,0	1/1:16:16:255,48,0	1/1:27:27:255,81,0	1/1:31:31:255,93,0	1/1:24:24:255,72,0	1/1:41:41:255,123,0	0/1:32:15:255,0,255	1/1:17:17:255,51,0	1/1:33:33:255,99,0	1/1:21:21:255,63,0	1/1:23:23:255,69,0	1/1:37:37:255,111,0	1/1:27:27:255,81,0	0/1:44:14:255,0,255	0/1:25:9:209,0,255	1/1:53:53:255,160,0	1/1:42:42:255,126,0	C	T	21	4	Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa, junctional, localisata variant, 226650 (3); Epithelial recurrent erosion dystrophy, 122400 (3)	.	Ossification of posterior longitudinal ligament, association with(CM144866)	GGC-AGC|Gly428Ser|c.1282G>A|p.G428S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24668667&dopt=Abstract)	24668667|25676728|16252234|15289135|14562173|12356719|10951237|10652291|10577906|10398261|10330419|9748270|9740252|9727841|9457914|9457913|9204958|9199555|9038345|9012408|8673116|8629821|8473327|8432531|7883981|7550320|7092249|2663347|2045679|1748679|1698819|1497743	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_SUBSTRATE_ADHESION;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_JUNCTION;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_CELL_JUNCTION_ORGANIZATION	PS1,PS3,BA1
L	10	115805056	rs1801253	G	C	224.5	PASS	ADRB1	adrenoceptor beta 1	exonic	NM_000684	.	missense SNV	ADRB1:NM_000684:exon1:c.G1165C:p.G389R	ENST00000369295.2	CpG: 223	10q25.3	.	.	Score=679;Name=V$P53_01	.	.	rs1801253	CLINSIG=drug response;CLNDBN=Congestive_heart_failure_and_beta-blocker_response\x2c_modifier_of;CLNACC=RCV000019322.2;CLNDSDB=MedGen;CLNDSDBID=C2676080	Birth weight	0.780731	0.7877	0.701677	0.6997	0.7360	0.7537	0.671516127106	0.75600959375	1.0,T	.	.	0.999504,P	0.000000,N	.	1.43,T	6.9998	0.214	1.478	.	.	AC=34;AN=48;BQB=0.740019;DP4=362,215,918,533;DP=2882;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=1;MQSB=0.991843;RPB=0.916598;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000766886	GT:DP:DV:PL	1/1:77:77:255,232,0	0/1:66:27:255,0,255	1/1:89:89:255,255,0	.	0/1:60:28:255,0,255	0/1:155:86:255,0,255	1/1:70:70:255,211,0	0/1:71:31:255,0,255	1/1:65:65:255,196,0	1/1:47:47:255,141,0	0/1:92:45:255,0,255	0/1:69:32:255,0,255	0/1:64:32:255,0,255	1/1:97:97:255,255,0	0/1:77:32:255,0,255	0/1:59:36:255,0,255	1/1:74:74:255,223,0	0/1:63:38:255,0,255	0/1:62:29:255,0,255	0/1:67:33:255,0,255	0/1:75:36:255,0,255	1/1:180:180:255,255,0	1/1:38:38:255,114,0	0/1:153:71:255,0,255	1/1:158:158:255,255,0	G	C	10	14	[Resting heart rate], 607276 (3); {Congestive heart failure and beta-blocker response, modifier of} (3)	23202124(4E-9)	Gain of function(CM994344)	GGA-CGA|Gly389Arg|c.1165G>C|p.G389R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10212248&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15212839&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21954455&dopt=Abstract)	10212248|15212839|21954455|21228877|20185685|19576569|17496726|16844790|15146239|14502278|12529373|12374873|12197595|12161655|11854867|10358009|10329424|10212248|3591616|2825170|2465637|2154750|1700798|1676978	REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REGULATION_OF_CATALYTIC_ACTIVITY;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ADENYLATE_CYCLASE_ACTIVATION;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;CAMP_MEDIATED_SIGNALING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_GAP_JUNCTION;KEGG_DILATED_CARDIOMYOPATHY	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	10	121436286	rs3858340	C	T	222.67	PASS	BAG3	BCL2-associated athanogene 3	exonic	NM_004281	.	missense SNV	BAG3:NM_004281:exon4:c.C1220T:p.P407L	ENST00000369085.3	.	10q26.11	.	.	.	.	.	rs3858340	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000037885.8;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.249169	0.253	0.155551	0.1157	0.1141	0.2691	0.21822318683	0.234374637019	0.016,D	0.1,B	0.191,B	0.225798,P	0.279224,N	2.25,M	-0.21,T	20.2602	2.861	4.449	3.244447,22.8	5.73	AC=15;AN=24;BQB=0.113656;DP4=149,85,201,129;DP=726;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.939898;SF=0,3,4,8,9,10,15,17,19,20,21,24;SGB=-0.69168;VDB=0.967106	GT:DP:DV:PL	0/1:40:19:255,0,255	.	.	0/1:51:21:255,0,255	1/1:43:43:255,129,0	.	.	.	0/1:41:23:255,0,255	0/1:39:16:255,0,255	0/1:48:23:255,0,255	.	.	.	.	0/1:44:14:246,0,255	.	1/1:37:37:255,111,0	.	0/1:46:21:255,0,255	1/1:49:49:255,148,0	0/1:79:39:255,0,255	.	.	0/1:47:25:255,0,255	C	T	3	9	Myopathy, myofibrillar, 6, 612954 (3); Cardiomyopathy, dilated, 1HH, 613881 (3)	.	Cardiomyopathy, dilated, increased risk(CM1111345)	CCT-CTT|Pro407Leu|c.1220C>T|p.P407L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21459883&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23582692&dopt=Abstract)	21459883|23582692|25208129|22734908|21898660|21361913|21353195|20605452|19085932|16936253|12706811|11513873|9915703|9873016	.	CYTOPLASMIC_PART;CYTOPLASM;CYTOSOL	.	.	.	.	.	PS1,PS3,BA1
L	10	124214448	rs10490924	G	T	223	PASS	ARMS2	age-related maculopathy susceptibility 2	exonic	NM_001099667	.	missense SNV	ARMS2:NM_001099667:exon1:c.G205T:p.A69S	ENST00000528446.1	.	10q26.13	.	.	.	.	.	rs10490924	CLINSIG=other|not provided;CLNDBN=Age-related_macular_degeneration_8|not_provided;CLNACC=RCV000001030.3|RCV000190307.1;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C3151070:613778|CN221809	Age-related macular degeneration (CNV),Age-related macular degeneration,Age-related macular degeneration (GA),Exudative age-related macular degeneration,Age-related macular degeneration (CNV vs. GA)	0.403654	0.4038	0.286542	0.2055	0.2550	0.4160	0.363636	0.407451487981	0.0,D	0.957,D	0.994,D	1,P	.	0,N	1.14,T	6.1676	0.370	0.208	1.372156,12.64	.	AC=21;AN=36;BQB=0.979775;DP4=382,208,423,283;DP=1734;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994433;SF=5,6,7,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24;SGB=-0.693139;VDB=0.746279	GT:DP:DV:PL	.	.	.	.	.	0/1:83:36:255,0,255	0/1:85:39:255,0,255	0/1:85:39:255,0,255	.	0/1:51:24:255,0,255	0/1:59:32:255,0,255	0/1:73:34:255,0,255	0/1:70:31:255,0,255	0/1:67:40:255,0,255	0/1:79:37:255,0,255	.	0/1:75:33:255,0,255	0/1:55:26:255,0,255	0/1:70:35:255,0,255	0/1:90:41:255,0,255	1/1:69:69:255,208,0	1/1:89:89:255,255,0	1/1:18:18:255,54,0	0/1:90:41:255,0,255	0/1:88:42:255,0,255	G	T	3	15	{Macular degeneration, age-related, 8}, 613778 (3)	23577725(8E-27);23455636(4E-540);22705344(7E-47);22705344(2E-138);22705344(7E-14);22694956(3E-72);21665990(4E-322);20861866(1E-60);20385826(5E-119)	Macular degeneration, age-related, in smokers, association with(CM066533)	GCT-TCT|Ala69Ser|c.205G>T|p.A69S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16642439&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21106043&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23112567&dopt=Abstract)	16642439|21106043|23112567|23455636|21670343|19259132|18535016|18511946|17884985|17210852|17053108|17000705|16936732|16642439|16174643|16080115|15987700|15168325|14758336|12945014|12900797	.	.	.	.	.	.	.	PS1,PS3,BA1
L	10	124221270	rs1049331	C	T	100.34	PASS	HTRA1	HtrA serine peptidase 1	exonic	NM_002775	.	synonymous SNV	HTRA1:NM_002775:exon1:c.C102T:p.A34A	ENST00000368984.3	CpG: 197	10q26.13	.	.	.	.	.	rs1049331	CLINSIG=Benign;CLNDBN=Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy;CLNACC=RCV000020489.1;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C1838577:600142:199354	.	0.416944	0.4107	0.293131	.	0.4159	0.4655	0.416944	0.417067569712	.	.	.	.	.	.	.	.	1.227	0.571	2.016645,16.32	2.52	AC=17;AN=28;BQB=0.9375;DP4=23,21,29,35;DP=145;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.952347;RPB=0.75;SF=5,6,9,10,11,14,17,18,19,20,21,22,23,24;SGB=-0.453602;VDB=0.48	GT:DP:DV:PL	.	.	.	.	.	0/1:10:2:55,0,223	0/1:5:3:113,0,59	.	.	0/1:5:3:101,0,47	0/1:7:3:107,0,158	0/1:8:5:143,0,94	.	.	0/1:13:8:203,0,148	.	.	0/1:9:6:142,0,101	0/1:6:3:77,0,87	0/1:3:2:64,0,51	1/1:7:7:196,21,0	1/1:9:9:255,27,0	1/1:6:6:193,18,0	0/1:11:3:84,0,255	0/1:9:4:119,0,195	C	T	3	11	{Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3)	.	Macular degeneration, age related, neovascular, association with(CM088461)	GCC-GCT|Ala34Ala|c.102C>T|p.A34A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18164066&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23478260&dopt=Abstract)	18164066|23478260|24500651|23673665|22556410|22049084|21115960|19387015|19259132|18535016|18511946|17884985|17568988|17053109|17053108|16767218|16377621|14716297|9852107|9344681|8977104	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	10	124221276	rs2293870	G	T	93.04	PASS	HTRA1	HtrA serine peptidase 1	exonic	NM_002775	.	synonymous SNV	HTRA1:NM_002775:exon1:c.G108T:p.G36G	ENST00000368984.3	CpG: 197	10q26.13	.	.	.	.	.	rs2293870	CLINSIG=Benign\x2cBenign;CLNDBN=Cerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy\x2cCerebral_autosomal_recessive_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy;CLNACC=RCV000020490.1,RCV000020491.1;CLNDSDB=MedGen:OMIM:ORPHA\x2cMedGen:OMIM:ORPHA;CLNDSDBID=C1838577:600142:199354\x2cC1838577:600142:199354	.	0.415282	0.4127	0.291334	.	0.4104	0.4286	0.415282	0.413461350962	.	.	.	.	.	.	.	.	-0.189	-0.235	.	.	AC=16;AN=26;BQB=0.5625;DP4=17,19,24,32;DP=124;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.952347;RPB=0.75;SF=5,6,10,11,13,14,17,18,19,20,21,22,24;SGB=-0.453602;VDB=0.48	GT:DP:DV:PL	.	.	.	.	.	0/1:10:2:67,0,215	0/1:4:3:104,0,25	.	.	.	0/1:7:3:107,0,158	0/1:8:5:153,0,94	.	0/1:7:3:85,0,111	0/1:11:6:168,0,123	.	.	0/1:8:5:105,0,104	0/1:6:3:77,0,87	0/1:3:2:76,0,51	1/1:6:6:179,18,0	1/1:10:10:247,30,0	1/1:5:5:148,15,0	.	0/1:7:3:107,0,158	G	T	3	10	{Macular degeneration, age-related, 7}, 610149 (3); {Macular degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3)	.	Macular degeneration, age related, neovascular, association with(CM088460) || Macular degeneration, age related, neovascular, association with(CM088459)	GGG-GGC|Gly36Gly|c.108G>C|p.G36G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18164066&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23478260&dopt=Abstract) || GGG-GGT|Gly36Gly|c.108G>T|p.G36G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18164066&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23478260&dopt=Abstract)	18164066|23478260|24500651|23673665|22556410|22049084|21115960|19387015|19259132|18535016|18511946|17884985|17568988|17053109|17053108|16767218|16377621|14716297|9852107|9344681|8977104	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	11	320772	rs12252	A	G	224.82	PASS	IFITM3	interferon induced transmembrane protein 3	exonic	NM_021034	.	synonymous SNV	IFITM3:NM_021034:exon1:c.T42C:p.S14S	ENST00000602735.1,ENST00000602756.1,ENST00000526811.1,ENST00000399808.4,ENST00000602429.1	.	11p15.5	.	.	.	Score=0.970805;Name=chr11:307675	.	rs12252	CLINSIG=other;CLNDBN=Influenza;CLNACC=RCV000024238.2;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0021400:614680:6142004	.	0.508306	0.5278	0.236422	0.1005	0.1247	0.5622	0.508306	0.453125350962	.	.	.	.	.	.	.	.	-3.754	-5.313	.	.	AC=25;AN=34;BQB=0.892194;DP4=311,141,835,387;DP=2272;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997944;SF=0,1,3,4,5,7,8,9,10,12,14,19,20,21,22,23,24;SGB=-0.693147;VDB=0.730629	GT:DP:DV:PL	0/1:98:45:255,0,255	1/1:70:70:255,211,0	.	0/1:114:57:255,0,255	1/1:102:102:255,255,0	1/1:146:146:255,255,0	.	0/1:80:49:255,0,255	0/1:96:47:255,0,255	0/1:75:35:255,0,255	0/1:87:49:255,0,255	.	1/1:80:80:255,241,0	.	0/1:98:55:255,0,255	.	.	.	.	1/1:78:78:255,235,0	1/1:96:96:255,255,0	0/1:172:93:255,0,255	1/1:46:46:255,138,0	0/1:121:60:255,0,255	1/1:115:114:255,255,0	A	G	8	9	{Influenza, severe, susceptibility to}, 614680 (3)	.	Influenza, severe, increased risk(CM122376)	AGTg-AGC|Ser14Ser|c.42T>C|p.S14S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22446628&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23361009&dopt=Abstract)	22446628|23361009|22446628|20943977|18505827|16326387|12659663|1906403	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	MEMBRANE;PLASMA_MEMBRANE	.	.	.	.	REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	11	824789	rs1138693	T	C	224.75	PASS	PNPLA2	patatin-like phospholipase domain containing 2	exonic	NM_020376	.	missense SNV	PNPLA2:NM_020376:exon10:c.T1442C:p.L481P	ENST00000336615.4,ENST00000532946.1	CpG: 108	11p15.5	.	.	.	.	.	rs1138693	.	.	0.607973	0.6002	0.654353	0.7068	0.5924	0.6723	0.486983107198	0.551682435096	0.0,D	0.766,P	0.943,P	1,P	.	0,N	1.46,T	.	0.000	0.000	.	.	AC=35;AN=48;BQB=0.858072;DP4=467,85,1329,247;DP=2821;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875893;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0165443	GT:DP:DV:PL	1/1:66:66:255,199,0	0/1:80:40:255,0,255	0/1:120:52:255,0,255	0/1:66:39:255,0,255	1/1:78:78:255,235,0	1/1:140:140:255,255,0	0/1:75:37:255,0,255	1/1:86:86:255,255,0	1/1:84:84:255,253,0	1/1:46:46:255,138,0	0/1:93:42:255,0,255	0/1:65:38:255,0,255	.	0/1:122:61:255,0,255	1/1:98:98:255,255,0	0/1:61:37:255,0,255	0/1:81:45:255,0,255	1/1:65:65:255,196,0	1/1:50:50:255,151,0	0/1:93:46:255,0,255	0/1:85:47:255,0,255	1/1:166:166:255,255,0	0/1:42:22:255,0,255	1/1:129:128:255,255,0	0/1:137:63:255,0,255	T	C	11	13	Neutral lipid storage disease with myopathy, 610717 (3)	.	Reduced activity(CM108999)	CCG-CTG|Pro481Leu|c.1442C>T|p.P481L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21170305&dopt=Abstract)	21170305|22832386|21857651|21680814|21544567|21393244|17657808|17187067|15550674|15364929|15337759	.	.	.	.	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	11	2190951	rs6356	C	T	226.32	PASS	TH	tyrosine hydroxylase	exonic	NM_000360,NM_199292,NM_199293	.	missense SNV	TH:NM_000360:exon2:c.G241A:p.V81M,TH:NM_199292:exon3:c.G334A:p.V112M,TH:NM_199293:exon3:c.G322A:p.V108M	ENST00000381175.1,ENST00000352909.3,ENST00000381178.1,ENST00000333684.5	.	11p15.5	.	.	.	.	.	rs6356	CLINSIG=Benign;CLNDBN=Segawa_syndrome\x2c_autosomal_recessive;CLNACC=RCV000021078.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1854299:605407	.	0.813953	0.7877	0.430511	0.288	0.4249	0.7934	0.650076246554	0.7331726875	0.18,T	0.033,B	0.106,B	1,P	0.170143,N	0.695,N	-4.92,D	4.7289	-0.189	-0.327	1.687222,14.34	.	AC=43;AN=50;BQB=0.954602;DP4=118,70,701,417;DP=1960;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.838458;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.634553	GT:DP:DV:PL	0/1:36:15:255,0,255	1/1:47:47:255,141,0	1/1:52:52:255,157,0	1/1:38:38:255,114,0	1/1:38:38:255,114,0	1/1:110:110:255,255,0	1/1:49:49:255,148,0	0/1:53:23:255,0,255	1/1:35:35:255,105,0	1/1:42:42:255,126,0	1/1:41:41:255,123,0	1/1:53:53:255,160,0	0/1:46:23:255,0,255	1/1:79:79:255,238,0	0/1:53:25:255,0,255	1/1:39:39:255,117,0	0/1:46:25:255,0,255	1/1:25:25:255,75,0	1/1:40:40:255,120,0	1/1:57:57:255,172,0	1/1:42:42:255,126,0	1/1:77:77:255,232,0	0/1:36:17:255,0,255	0/1:94:48:255,0,255	1/1:78:78:255,235,0	C	T	18	7	Segawa syndrome, recessive, 605407 (3)	.	Alcoholism, association with(CM1213128)	cATG-GTG|Met81Val|c.241A>G|p.M81V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22560290&dopt=Abstract)	22560290|22483314|21937992|17696123|16341013|14749349|11935324|11532988|11281275|11246459|10802666|10585338|10407773|9920892|9887369|9732974|9703425|9466999|9235905|9228951|8817341|8548806|8528210|7814018|7786965|7715704|7715703|6179090|2906039|2902075|2898127|2892528|2889817|2887169|2882428|2880337|2872999|2857492|2565377|1969123|1355073	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_TYROSINE_METABOLISM;KEGG_PARKINSONS_DISEASE	PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_P38_MK2PATHWAY;PID_ALPHASYNUCLEIN_PATHWAY	BIOCARTA_NEUROTRANSMITTERS_PATHWAY	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	11	6411935	rs1050228	T	C	207.96	PASS	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	exonic	NM_000543,NM_001007593	.	missense SNV	SMPD1:NM_000543:exon1:c.T107C:p.V36A,SMPD1:NM_001007593:exon1:c.T107C:p.V36A	ENST00000533196.1,ENST00000527275.1,ENST00000299397.3,ENST00000356761.2,ENST00000342245.4	.	11p15.4	.	.	Score=876;Name=V$CP2_01	.	.	rs1050228	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000079189.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.802326	0.8075	0.561302	0.4546	0.5580	0.7827	0.580398355283	0.703125230769	0.287,T	0.0,B	0.0,B	1,P	0.915970,N	0,N	2.99,T	7.0836	0.243	0.501	.	.	AC=42;AN=48;BQB=0.217951;DP4=228,82,1256,363;DP=2593;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.39382;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693136;VDB=0.547225	GT:DP:DV:PL	0/1:76:35:255,0,255	1/1:69:69:255,208,0	1/1:84:84:255,253,0	1/1:65:65:255,196,0	0/1:71:32:255,0,255	0/1:87:14:135,0,255	1/1:77:77:255,232,0	1/1:88:88:255,255,0	1/1:70:70:255,211,0	1/1:43:43:255,129,0	1/1:67:67:255,202,0	1/1:54:54:255,163,0	1/1:62:62:255,187,0	1/1:138:138:255,255,0	1/1:92:92:255,255,0	1/1:69:69:255,208,0	1/1:75:75:255,226,0	1/1:60:60:255,181,0	1/1:46:46:255,138,0	0/1:51:9:95,0,255	0/1:85:41:255,0,255	1/1:165:165:255,255,0	.	1/1:152:152:255,255,0	0/1:83:12:99,0,255	T	C	18	6	Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3)	.	Sphingomyelinase deficiency(CI128391)	TGGGC^35CTGGTctggcGCTGGCGCTG|c.107_108insCTGGC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23430949&dopt=Abstract)	23430949|20111001|19405096|17259995|16642440|15877209|15067322|12750523|12694237|12607113|12531875|12369017|11932991|11310411|11173664|9393854|9266408|8706124|8664904|8401540|8288255|8225311|8051942|7762557|7670466|7600574|2555181|2023926|2004772|1885770|1840600|1740330|1718266|1618760|1565614|1391960|1301192	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	KEGG_SPHINGOLIPID_METABOLISM;KEGG_LYSOSOME	PID_TRAIL_PATHWAY;PID_FASPATHWAY;PID_TNFPATHWAY;PID_IL2_PI3KPATHWAY;PID_CERAMIDE_PATHWAY	BIOCARTA_CERAMIDE_PATHWAY;BIOCARTA_EDG1_PATHWAY	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	11	13514053	rs6256	G	T	216.83	PASS	PTH	parathyroid hormone	exonic	NM_000315,NM_001316352	.	synonymous SNV	PTH:NM_000315:exon3:c.C247A:p.R83R,PTH:NM_001316352:exon3:c.C343A:p.R115R	ENST00000529816.1,ENST00000282091.1	.	11p15.2	.	.	.	.	.	rs6256	CLINSIG=Pathogenic;CLNDBN=Primary_hyperparathyroidism;CLNACC=RCV000014767.25;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0221002:36348003	.	0.126246	0.121	0.151358	0.1235	0.1611	0.1208	0.103369126493	0.1213944375	.	.	.	.	.	.	.	.	-0.132	1.170	.	.	AC=6;AN=12;BQB=0.792889;DP4=82,25,75,16;DP=274;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.834235;SF=0,2,6,15,20,23;SGB=-0.690438;VDB=0.66434	GT:DP:DV:PL	0/1:36:17:255,0,255	.	0/1:32:14:255,0,255	.	.	.	0/1:25:12:255,0,255	.	.	.	.	.	.	.	.	0/1:34:16:255,0,255	.	.	.	.	0/1:34:13:224,0,255	.	.	0/1:37:19:255,0,255	.	G	T	0	6	Hypoparathyroidism, autosomal dominant, 146200 (3); Hypoparathyroidism, autosomal recessive, 146200 (3)	.	Hypoparathyroidism(CM088150)	cCGA-TGA|Arg83Term|c.247C>T|p.R83*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18784115&dopt=Abstract)	18784115|18784115|18056632|15843402|15769857|15472173|12351573|11994406|10523031|10523026|9817594|9108031|7721880|6885073|6314332|6220408|6092261|3899525|3885418|3344017|3005800|2991119|2985490|2882956|2723071|2574460|2298446|2215618|2212001|1672845|1425431|1348047|1302009|388425|96437	NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;PROGRAMMED_CELL_DEATH;INDUCTION_OF_APOPTOSIS_BY_EXTRACELLULAR_SIGNALS;SKELETAL_DEVELOPMENT;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;APOPTOSIS_GO	.	RECEPTOR_BINDING;HORMONE_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	11	17408630	rs5215	C	T	224.7	PASS	KCNJ11	potassium channel, inwardly rectifying subfamily J, member 11	exonic	NM_000525,NM_001166290	.	missense SNV	KCNJ11:NM_000525:exon1:c.G1009A:p.V337I,KCNJ11:NM_001166290:exon2:c.G748A:p.V250I	ENST00000528731.1,ENST00000339994.4	.	11p15.1	.	.	.	.	.	rs5215	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000146099.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	Type 2 diabetes	0.662791	0.6617	0.730631	0.7320	0.6448	0.6396	0.519908108729	0.594952057692	0.152,T	0.009,B	0.004,B	0.999999,P	0.105135,N	.	-3.36,D	21.9712	-1.420	-0.139	1.317186,12.36	.	AC=29;AN=40;BQB=0.994176;DP4=303,148,719,303;DP=1981;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979032;SF=0,1,5,6,7,8,9,10,11,12,14,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0808883	GT:DP:DV:PL	1/1:64:64:255,193,0	0/1:77:33:255,0,255	.	.	.	0/1:101:46:255,0,255	1/1:68:68:255,205,0	0/1:98:38:255,0,255	1/1:64:64:255,193,0	0/1:69:30:255,0,255	0/1:85:32:255,0,255	1/1:54:54:255,163,0	1/1:59:59:255,178,0	.	0/1:82:42:255,0,255	0/1:72:33:255,0,255	0/1:61:34:255,0,255	0/1:70:34:255,0,255	.	1/1:77:77:255,232,0	1/1:67:67:255,202,0	0/1:105:59:255,0,255	0/1:29:17:255,0,255	1/1:95:95:255,255,0	1/1:76:76:255,229,0	C	T	9	11	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, 606176 (3); Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3)	24509480(3E-11);18372903(4E-7);17463249(5E-11)	Diabetes mellitus 2, association with(CM078157)	cATC-GTC|Ile337Val|c.1009A>G|p.I337V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17257281&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22958899&dopt=Abstract)	17257281|22958899|22701567|20595581|20022885|19685080|19357197|19065048|18596924|18250167|18073297|17652641|17463249|17463248|17463246|16670688|16636122|16416420|16205880|16087682|15998776|15797964|15784703|15761495|15718250|15583126|15580558|15579791|15579781|15562009|15292329|15115830|12524280|11375491|10761930|9867219|9356020|9342346|9259578|8923010|8630239|8122319|7847376|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	17409069	rs5218	G	A	224.33	PASS	KCNJ11	potassium channel, inwardly rectifying subfamily J, member 11	exonic	NM_000525,NM_001166290	.	synonymous SNV	KCNJ11:NM_000525:exon1:c.C570T:p.A190A,KCNJ11:NM_001166290:exon2:c.C309T:p.A103A	ENST00000528731.1,ENST00000339994.4	.	11p15.1	.	.	Score=872;Name=V$GATA1_03	.	.	rs5218	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000146111.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.518272	0.5129	0.227436	0.2229	0.2582	0.4879	0.394333500766	0.455528442308	.	.	.	.	.	.	.	.	-0.297	0.250	.	.	AC=25;AN=36;BQB=0.77294;DP4=271,227,611,435;DP=1910;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.984501;SF=0,1,5,6,7,8,9,10,11,12,15,16,19,20,21,22,23,24;SGB=-0.693147;VDB=0.482548	GT:DP:DV:PL	1/1:69:69:255,208,0	0/1:75:43:255,0,255	.	.	.	0/1:112:51:255,0,255	1/1:80:80:255,241,0	0/1:90:47:255,0,255	1/1:63:63:255,190,0	0/1:68:35:255,0,255	0/1:90:36:255,0,255	1/1:75:75:255,226,0	0/1:100:50:255,0,255	.	.	0/1:77:34:255,0,255	0/1:69:32:255,0,255	.	.	0/1:91:43:255,0,255	1/1:82:82:255,247,0	0/1:157:85:255,0,255	0/1:47:22:255,0,255	1/1:105:105:255,255,0	1/1:94:94:255,255,0	G	A	7	11	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, 606176 (3); Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3)	.	Diabetes, type 2, association with(CM035697)	GCTc-GCC|Ala190Ala|c.570T>C|p.A190A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14551916&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18290324&dopt=Abstract)	14551916|18290324|22701567|20595581|20022885|19685080|19357197|19065048|18596924|18250167|18073297|17652641|17463249|17463248|17463246|16670688|16636122|16416420|16205880|16087682|15998776|15797964|15784703|15761495|15718250|15583126|15580558|15579791|15579781|15562009|15292329|15115830|12524280|11375491|10761930|9867219|9356020|9342346|9259578|8923010|8630239|8122319|7847376|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	17409572	rs5219	T	C	224.7	PASS	KCNJ11	potassium channel, inwardly rectifying subfamily J, member 11	exonic	NM_000525	.	missense SNV	KCNJ11:NM_000525:exon1:c.A67G:p.K23E	ENST00000528731.1,ENST00000339994.4	CpG: 17	11p15.1	.	.	Score=820;Name=V$PPARG_03	.	.	rs5219	CLINSIG=other|drug response|Benign|Benign;CLNDBN=Diabetes_mellitus_type_2|Exercise_stress_response\x2c_impaired\x2c_association_with|Permanent_neonatal_diabetes_mellitus|not_specified;CLNACC=RCV000009214.3|RCV000009215.3|RCV000020356.1|RCV000146116.2;CLNDSDB=MedGen:OMIM:SNOMED_CT|.|MedGen:OMIM|MedGen;CLNDSDBID=C0011860:125853:44054006|.|C1833104:606176|CN169374	Type 2 diabetes	0.662791	0.6617	0.737021	0.7381	0.6471	0.6401	0.519908108729	0.594952057692	0.322,T	0.001,B	0.0,B	1,P	0.000700,N	.	-2.18,D	8.4706	0.810	2.066	.	4.3	AC=29;AN=40;BQB=0.915386;DP4=359,226,1036,625;DP=3131;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.432769;SF=0,1,5,6,7,8,9,10,11,12,14,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0148155	GT:DP:DV:PL	1/1:90:90:255,255,0	0/1:117:62:255,0,255	.	.	.	0/1:155:76:255,0,255	1/1:121:121:255,255,0	0/1:142:67:255,0,255	1/1:104:104:255,255,0	0/1:85:47:255,0,255	0/1:113:52:255,0,255	1/1:118:118:255,255,0	1/1:116:116:255,255,0	.	0/1:121:60:255,0,255	0/1:98:55:255,0,255	0/1:108:65:255,0,255	0/1:89:45:255,0,255	.	1/1:135:134:255,255,0	1/1:108:108:255,255,0	0/1:133:67:255,0,255	0/1:35:16:255,0,255	1/1:135:135:255,255,0	1/1:123:123:255,255,0	T	C	9	11	Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, 606176 (3); Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3)	19056611(5E-7);19056611(1E-9);17463248(7E-11);17463246(1E-7)	Diabetes mellitus 2, association with(CM981121)	cGAG-AAG|Glu23Lys|c.67G>A|p.E23K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9867219&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12196481&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15855351&dopt=Abstract)	9867219|12196481|15855351|22701567|20595581|20022885|19685080|19357197|19065048|18596924|18250167|18073297|17652641|17463249|17463248|17463246|16670688|16636122|16416420|16205880|16087682|15998776|15797964|15784703|15761495|15718250|15583126|15580558|15579791|15579781|15562009|15292329|15115830|12524280|11375491|10761930|9867219|9356020|9342346|9259578|8923010|8630239|8122319|7847376|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	17418477	rs757110	C	A	224.7	PASS	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	exonic	NM_000352,NM_001287174	.	missense SNV	ABCC8:NM_000352:exon33:c.G4105T:p.A1369S,ABCC8:NM_001287174:exon33:c.G4108T:p.A1370S	ENST00000302539.4,ENST00000389817.3	.	11p15.1	.	.	Score=860;Name=V$GATA1_03	.	.	rs757110	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000144996.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.644518	0.6389	0.726438	0.7386	0.6431	0.6206	0.504593957121	0.579326822115	0.41,T	0.0,B	0.0,B	0.999989,P	0.018744,N	0.76,N	-3.18,D	8.3081	-0.033	0.171	0.928607,10.25	2.37	AC=29;AN=40;BQB=0.995865;DP4=309,32,704,77;DP=1480;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0377313;SF=0,1,5,6,7,8,9,10,11,12,14,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.280943	GT:DP:DV:PL	1/1:69:69:255,208,0	0/1:46:17:255,0,255	.	.	.	0/1:97:45:255,0,255	1/1:44:44:255,132,0	0/1:68:32:255,0,255	1/1:49:49:255,148,0	0/1:37:16:255,0,255	0/1:57:30:255,0,255	1/1:43:43:255,129,0	1/1:37:37:255,111,0	.	0/1:59:26:255,0,255	0/1:44:19:255,0,255	0/1:53:21:255,0,255	0/1:46:25:255,0,255	.	1/1:64:64:255,193,0	1/1:54:54:255,163,0	0/1:96:46:255,0,255	0/1:30:15:255,0,255	1/1:62:62:255,187,0	1/1:67:67:255,202,0	C	A	9	11	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3)	.	Enhanced insulin secretion in pregnancy, association(CM004821)	cTCC-GCC|Ser1369Ala|c.4105T>G|p.S1369A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11117432&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17823772&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19587354&dopt=Abstract)	11117432|17823772|19587354|23273570|21978130|21378087|18596924|18025464|17668386|16885549|16882742|16613899|16550187|15846348|15579791|15579781|15562009|15356046|12941782|12559865|12524541|11343328|11030411|11018078|10993895|10447255|10426386|10334322|10193261|9799081|9769320|9618169|9469993|9259578|9135131|9041101|8923011|8751851|8635661|7920639|7847376|7789978|7716548|7716547|7716539|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS;KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	17448704	rs1799854	G	A	217.21	PASS	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	splicing	NM_000352,NM_001287174	NM_000352:exon16:c.2117-3C>T;NM_001287174:exon16:c.2117-3C>T	.	.	ENST00000302539.4,ENST00000389817.3	.	11p15.1	.	.	.	.	.	rs1799854	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000144983.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.57309	0.5506	0.368411	0.3536	0.4346	0.5996	0.57309	0.524038629808	.	.	.	.	.	.	.	.	1.187	3.524	2.019975,16.34	4.35	AC=32;AN=48;BQB=0.851779;DP4=105,181,198,321;DP=1085;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.606098;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.690438;VDB=0.0068168	GT:DP:DV:PL	0/1:32:17:255,0,255	1/1:28:28:255,84,0	0/1:28:13:255,0,255	0/1:42:21:255,0,255	1/1:23:23:255,69,0	.	0/1:29:14:255,0,255	1/1:32:32:255,96,0	0/1:27:11:242,0,255	1/1:31:31:255,93,0	0/1:47:19:255,0,255	0/1:30:13:255,0,255	0/1:35:20:255,0,255	0/1:47:23:255,0,255	0/1:43:25:255,0,255	1/1:27:27:255,81,0	1/1:44:44:255,132,0	0/1:27:11:242,0,255	0/1:25:14:255,0,255	1/1:32:30:255,26,0	0/1:25:15:255,0,255	0/1:57:28:255,0,255	0/1:12:5:119,0,154	1/1:44:44:255,132,0	0/1:38:11:255,0,255	G	A	8	16	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3)	.	Diabetes mellitus 2, association with(CS991507)	IVS15 as C-T -3|c.2117-3C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8635661&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10333056&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10857971&dopt=Abstract)	8635661|10333056|10857971|23273570|21978130|21378087|18596924|18025464|17668386|16885549|16882742|16613899|16550187|15846348|15579791|15579781|15562009|15356046|12941782|12559865|12524541|11343328|11030411|11018078|10993895|10447255|10426386|10334322|10193261|9799081|9769320|9618169|9469993|9259578|9135131|9041101|8923011|8751851|8635661|7920639|7847376|7789978|7716548|7716547|7716539|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS;KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	17496516	rs1048099	A	G	222.86	PASS	ABCC8	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	exonic	NM_000352,NM_001287174	.	synonymous SNV	ABCC8:NM_000352:exon2:c.T207C:p.P69P,ABCC8:NM_001287174:exon2:c.T207C:p.P69P	ENST00000302539.4,ENST00000389817.3	.	11p15.1	.	.	.	.	.	rs1048099	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000144982.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.360465	0.3611	0.439297	0.4768	0.4740	0.3640	0.292496117917	0.329326814904	.	.	.	.	.	.	.	.	-1.677	-2.596	.	.	AC=16;AN=28;BQB=0.673547;DP4=225,208,315,241;DP=1389;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.913257;SF=2,3,4,5,6,7,10,11,12,13,15,16,20,24;SGB=-0.692562;VDB=0.131046	GT:DP:DV:PL	.	.	0/1:52:22:255,0,255	0/1:72:38:255,0,255	0/1:60:24:255,0,255	0/1:100:48:255,0,255	0/1:71:44:255,0,255	0/1:74:41:255,0,255	.	.	0/1:72:27:255,0,255	0/1:67:34:255,0,255	0/1:55:28:255,0,255	1/1:78:78:255,235,0	.	0/1:54:28:255,0,255	1/1:64:64:255,193,0	.	.	.	0/1:80:37:255,0,255	.	.	.	0/1:90:43:255,0,255	A	G	2	12	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3); Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2, 610374 (3); Diabetes mellitus, noninsulin-dependent, 125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3)	.	Diabetes mellitus, protection against(CM129527)	CCTg-CCC|Pro69Pro|c.207T>C|p.P69P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21671119&dopt=Abstract)	21671119|23273570|21978130|21378087|18596924|18025464|17668386|16885549|16882742|16613899|16550187|15846348|15579791|15579781|15562009|15356046|12941782|12559865|12524541|11343328|11030411|11018078|10993895|10447255|10426386|10334322|10193261|9799081|9769320|9618169|9469993|9259578|9135131|9041101|8923011|8751851|8635661|7920639|7847376|7789978|7716548|7716547|7716539|7502040	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;MONOVALENT_INORGANIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	KEGG_ABC_TRANSPORTERS;KEGG_TYPE_II_DIABETES_MELLITUS	PID_HNF3BPATHWAY	.	REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	11	36595600	rs3740955	A	G	226.32	PASS	RAG1	recombination activating gene 1	exonic	NM_000448	.	missense SNV	RAG1:NM_000448:exon2:c.A746G:p.H249R	ENST00000299440.5	.	11p12	.	.	.	.	.	rs3740955	CLINSIG=Benign;CLNDBN=not_provided;CLNACC=RCV000127709.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.760797	0.756	0.613419	0.4683	0.4470	0.7808	0.617151352221	0.669470966346	0.176,T	0.0,B	0.0,B	1,P	0.234553,N	-0.29,N	1.23,T	10.2304	-0.541	0.169	.	.	AC=43;AN=50;BQB=0.638632;DP4=114,67,677,348;DP=1531;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.314219;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.334451	GT:DP:DV:PL	1/1:51:51:255,154,0	0/1:47:24:255,0,255	1/1:37:37:255,111,0	1/1:66:65:255,139,0	1/1:37:37:255,111,0	0/1:60:32:255,0,255	1/1:62:62:255,187,0	0/1:65:33:255,0,255	1/1:45:45:255,135,0	1/1:41:41:255,123,0	1/1:52:52:255,157,0	1/1:50:50:255,151,0	0/1:35:17:255,0,255	1/1:34:34:255,102,0	1/1:42:42:255,126,0	1/1:51:51:255,154,0	1/1:51:51:255,154,0	1/1:36:36:255,108,0	1/1:56:56:255,169,0	0/1:56:21:255,0,255	1/1:45:45:255,135,0	1/1:72:72:255,217,0	1/1:26:26:255,78,0	0/1:37:18:255,0,255	0/1:52:27:255,0,255	A	G	18	7	Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3)	.	Immunodeficiency, severe combined(CM122460)	CAC-CGC|His249Arg|c.746A>G|p.H249R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22424479&dopt=Abstract)	22424479|24413735|24406074|20489056|20398922|19126872|18701881|18463379|18056378|17898768|17476359|16276422|15025726|12098699|11971977|11390983|11313270|11172712|11133745|11121059|10892649|10601033|10601032|10446057|9727489|9723614|9630231|8810255|8637873|8521468|2598259|2360047|2215662|1735560|1612612|1547488|1428003|1283330	DNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;IMMUNE_RESPONSE;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;DNA_RECOMBINATION;ORGAN_DEVELOPMENT	.	DNA_BINDING	KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	.	PS1,PS3,BA1
L	11	36597313	rs2227973	A	G	224.86	PASS	RAG1	recombination activating gene 1	exonic	NM_000448	.	missense SNV	RAG1:NM_000448:exon2:c.A2459G:p.K820R	ENST00000299440.5	.	11p12	.	.	Score=761;Name=V$HTF_01	.	.	rs2227973	.	.	0.571429	0.5665	0.257987	0.1119	0.1866	0.5994	0.454058292496	0.493990598558	0.001,D	0.006,B	0.001,B	0.357351,P	0.025575,N	1.665,L	-2.14,D	9.8233	0.204	2.868	.	2.58	AC=32;AN=42;BQB=0.594128;DP4=104,108,324,285;DP=1088;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.799943;SF=0,1,2,3,5,6,7,8,9,11,12,13,14,16,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.962406	GT:DP:DV:PL	1/1:43:43:255,129,0	0/1:43:22:255,0,255	1/1:35:35:255,105,0	1/1:48:48:255,144,0	.	0/1:60:24:255,0,255	1/1:34:34:255,102,0	0/1:41:19:255,0,255	0/1:35:17:255,0,255	1/1:35:35:255,105,0	.	0/1:50:25:255,0,255	0/1:25:13:249,0,255	1/1:33:33:255,99,0	1/1:38:38:255,114,0	.	1/1:35:35:255,105,0	.	1/1:49:49:255,148,0	0/1:35:15:255,0,255	1/1:43:43:255,129,0	0/1:44:19:255,0,255	1/1:24:24:255,72,0	0/1:37:20:255,0,255	0/1:34:18:255,0,255	A	G	11	10	Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3)	.	Non-Hodgkin lymphoma, increased risk, association with(CM068079)	AAG-AGG|Lys820Arg|c.2459A>G|p.K820R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16857995&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21625022&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22424479&dopt=Abstract)	16857995|21625022|22424479|24413735|24406074|20489056|20398922|19126872|18701881|18463379|18056378|17898768|17476359|16276422|15025726|12098699|11971977|11390983|11313270|11172712|11133745|11121059|10892649|10601033|10601032|10446057|9727489|9723614|9630231|8810255|8637873|8521468|2598259|2360047|2215662|1735560|1612612|1547488|1428003|1283330	DNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;IMMUNE_RESPONSE;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;DNA_RECOMBINATION;ORGAN_DEVELOPMENT	.	DNA_BINDING	KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	.	PS1,PS3,BA1
L	11	46745003	rs5896	C	T	225.25	PASS	F2	coagulation factor II (thrombin)	exonic	NM_000506,NM_001311257	.	missense SNV	F2:NM_000506:exon6:c.C494T:p.T165M,F2:NM_001311257:exon6:c.C446T:p.T149M	ENST00000530231.1,ENST00000311907.5	.	11p11.2	.	.	.	.	.	rs5896	.	.	0.60299	0.6002	0.219249	0.096	0.1976	0.6074	0.466309424196	0.536057788462	0.039,D	0.08,B	0.253,B	1,P	0.106682,N	2.175,M	-0.25,T	6.3465	0.667	0.245	1.547558,13.57	3.02	AC=37;AN=48;BQB=0.34106;DP4=289,202,902,508;DP=2758;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.574962;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0253539	GT:DP:DV:PL	1/1:78:78:255,235,0	1/1:68:68:255,205,0	1/1:94:94:255,255,0	1/1:67:67:255,202,0	1/1:70:70:255,211,0	1/1:88:88:255,255,0	1/1:65:65:255,196,0	0/1:102:40:255,0,255	0/1:67:27:255,0,255	.	0/1:91:39:255,0,255	0/1:53:24:255,0,255	0/1:74:39:255,0,255	0/1:101:47:255,0,255	0/1:84:36:255,0,255	1/1:85:85:255,255,0	0/1:86:45:255,0,255	0/1:71:34:255,0,255	0/1:80:35:255,0,255	1/1:77:77:255,232,0	1/1:98:98:255,255,0	1/1:112:112:255,255,0	1/1:18:18:255,54,0	0/1:92:44:255,0,255	1/1:80:80:255,241,0	C	T	13	11	Hypoprothrombinemia, 613679 (3); Dysprothrombinemia, 613679 (3); Thrombophilia due to thrombin defect, 188050 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)	.	Warfarin sensitivity, association with(CM043760)	ACG-ATG|Thr165Met|c.494C>T|p.T165M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14656880&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23029076&dopt=Abstract)	14656880|23029076|22716977|19598065|19531787|19416890|19141155|16493002|16487178|15534175|14489469|12855811|12855810|12149217|11796466|11570053|11506076|11443298|11380448|11167765|11154146|10651742|10544935|10477778|10406905|10348712|10348711|10348710|10336270|10233439|10233438|10027711|9869612|9863703|9694698|9636195|9632453|9632445|9569177|9531249|9493607|9292507|8916933|7740448|7103409|6405779|6305407|6085205|3801671|3771562|3567158|3558361|3474786|3242619|2825773|2719946|2222810|1557383|1421398|1349838|1334372|625142|444582	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEAR_IMPORT;REGULATION_OF_HYDROLASE_ACTIVITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;HEMOSTASIS;JAK_STAT_CASCADE;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;CELL_ACTIVATION;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_IMPORT;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;POSITIVE_REGULATION_OF_CASPASE_ACTIVITY;RESPONSE_TO_STRESS;PROTEIN_IMPORT_INTO_NUCLEUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;MACROMOLECULE_LOCALIZATION;BIOPOLYMER_MODIFICATION;TRANSPORT;REGULATION_OF_CATALYTIC_ACTIVITY;PEPTIDYL_TYROSINE_PHOSPHORYLATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;PEPTIDYL_TYROSINE_MODIFICATION;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;CELLULAR_LOCALIZATION;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;APOPTOTIC_PROGRAM;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_TRANSPORT;PHOSPHORYLATION;PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;INTRACELLULAR_SIGNALING_CASCADE;APOPTOSIS_GO;NUCLEOCYTOPLASMIC_TRANSPORT;CASPASE_ACTIVATION	EXTRACELLULAR_REGION;CELL_FRACTION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;SOLUBLE_FRACTION	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;RECEPTOR_BINDING;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_HNF3BPATHWAY;PID_THROMBIN_PAR4_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_THROMBIN_PAR1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_SPPA_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_FIBRINOLYSIS_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_PAR1_PATHWAY	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GAMMA_CARBOXYLATION_TRANSPORT_AND_AMINO_TERMINAL_CLEAVAGE_OF_PROTEINS;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_COMMON_PATHWAY;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_GPCR_LIGAND_BINDING;REACTOME_THROMBIN_SIGNALLING_THROUGH_PROTEINASE_ACTIVATED_RECEPTORS_PARS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	11	48145375	rs1566734	A	C	208.82	PASS	PTPRJ	protein tyrosine phosphatase, receptor type, J	exonic	NM_001098503,NM_002843	.	missense SNV	PTPRJ:NM_001098503:exon5:c.A827C:p.Q276P,PTPRJ:NM_002843:exon5:c.A827C:p.Q276P	ENST00000418331.2,ENST00000440289.2	.	11p11.2	.	.	.	.	.	rs1566734	CLINSIG=Pathogenic;CLNDBN=Carcinoma_of_colon;CLNACC=RCV000009227.4;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0699790:114500:269533000	.	0.325581	0.3185	0.189896	0.1475	0.1694	0.2655	0.223583474732	0.265624810096	0.221,T	0.149,B	0.597,P	1,P	.	0.895,L	1.28,T	3.8559	0.062	0.077	.	.	AC=13;AN=22;BQB=0.75425;DP4=61,53,77,72;DP=332;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987578;SF=0,3,4,6,9,12,13,14,19,20,23;SGB=-0.689466;VDB=0.554049	GT:DP:DV:PL	0/1:31:16:255,0,255	.	.	1/1:16:16:255,48,0	0/1:33:18:255,0,255	.	1/1:25:25:255,75,0	.	.	0/1:23:8:226,0,255	.	.	0/1:22:10:213,0,255	0/1:25:13:255,0,255	0/1:15:6:205,0,255	.	.	.	.	0/1:26:17:255,0,177	0/1:25:11:255,0,255	.	.	0/1:22:9:219,0,255	.	A	C	2	9	Colon cancer, somatic, 114500 (3)	.	Thyroid cancer, risk, association with(CM043071)	CAA-CCA|Gln276Pro|c.827A>C|p.Q276P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15378013&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22677127&dopt=Abstract)	15378013|22677127|16000320|12089527|8575779|7994032|7937872	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;DEPHOSPHORYLATION;CELL_CELL_SIGNALING;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_ADHERENS_JUNCTION	PID_MET_PATHWAY;PID_PDGFRBPATHWAY;PID_VEGFR1_2_PATHWAY	.	.	PS1,PS3,BA1
L	11	48146622	rs1503185	G	A	223.09	PASS	PTPRJ	protein tyrosine phosphatase, receptor type, J	exonic	NM_001098503,NM_002843	.	missense SNV	PTPRJ:NM_001098503:exon6:c.G977A:p.R326Q,PTPRJ:NM_002843:exon6:c.G977A:p.R326Q	ENST00000418331.2,ENST00000440289.2	.	11p11.2	.	.	.	.	.	rs1503185	.	.	0.32392	0.3165	0.242812	0.1922	0.1807	0.2646	0.222817837672	0.264422980769	0.491,T	0.001,B	0.008,B	1,P	.	0.315,N	3.64,T	5.7499	-5.127	-4.800	.	.	AC=13;AN=22;BQB=0.899605;DP4=158,41,208,67;DP=662;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.731945;SF=0,3,4,6,9,12,13,14,19,20,23;SGB=-0.692831;VDB=0.538306	GT:DP:DV:PL	0/1:49:24:255,0,255	.	.	1/1:38:38:255,114,0	0/1:44:24:255,0,255	.	1/1:36:36:255,108,0	.	.	0/1:46:24:255,0,255	.	.	0/1:37:18:255,0,255	0/1:41:18:255,0,255	0/1:34:16:255,0,255	.	.	.	.	0/1:44:25:255,0,255	0/1:38:20:255,0,255	.	.	0/1:67:32:255,0,255	.	G	A	2	9	Colon cancer, somatic, 114500 (3)	.	Thyroid cancer, risk, association with(CM043072)	CGA-CAA|Arg326Gln|c.977G>A|p.R326Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15378013&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19672627&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22677127&dopt=Abstract)	15378013|19672627|22677127|16000320|12089527|8575779|7994032|7937872	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;DEPHOSPHORYLATION;CELL_CELL_SIGNALING;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_ADHERENS_JUNCTION	PID_MET_PATHWAY;PID_PDGFRBPATHWAY;PID_VEGFR1_2_PATHWAY	.	.	PS1,PS3,BA1
L	11	59863104	rs569108	A	G	175.62	PASS	MS4A2	membrane-spanning 4-domains, subfamily A, member 2	exonic	NM_000139,NM_001256916	.	missense SNV	MS4A2:NM_001256916:exon6:c.A575G:p.E192G,MS4A2:NM_000139:exon7:c.A710G:p.E237G	ENST00000278888.3	.	11q12.1	.	.	.	.	.	rs569108	CLINSIG=other;CLNDBN=Atopic_asthma\x2c_susceptibility_to;CLNACC=RCV000015930.2;CLNDSDB=.;CLNDSDBID=.	.	0.184385	0.1786	0.111621	0.0731	0.0485	0.1716	0.142419376723	0.15865355649	0.002,D	0.726,P	0.954,P	1,P	0.169617,N	1.545,L	1.88,T	11.0179	2.371	3.613	4.106425,23.7	4.79	AC=8;AN=16;BQB=0.332192;DP4=74,14,69,19;DP=233;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.637737;SF=2,4,6,10,14,15,20,23;SGB=-0.616816;VDB=0.164385	GT:DP:DV:PL	.	.	0/1:20:6:129,0,255	.	0/1:30:17:255,0,247	.	0/1:26:9:152,0,255	.	.	.	0/1:23:20:255,0,37	.	.	.	0/1:16:6:170,0,255	0/1:26:14:255,0,255	.	.	.	.	0/1:18:8:218,0,232	.	.	0/1:17:8:241,0,234	.	A	G	0	8	{Atopy, susceptibility to}, 147050 (3)	.	Asthma, atopic, association with(CM960639)	GAA-GGA|Glu237Gly|c.710A>G|p.E237G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8817330&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10941841&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11702205&dopt=Abstract)	8817330|10941841|11702205|23643722|20554927|12944417|12753743|11702205|9521597|8842731|8817330|8188278|8094113|7920628|7616543|2531187|1535625	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;IMMUNE_RESPONSE;CELL_PROLIFERATION_GO_0008283;IMMUNE_SYSTEM_PROCESS;HUMORAL_IMMUNE_RESPONSE;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_ASTHMA	PID_FCER1PATHWAY	.	.	PS1,PS3,BA1
L	11	64572018	rs2959656	T	C	223.89	PASS	MEN1	multiple endocrine neoplasia I	exonic	NM_000244,NM_130799,NM_130800,NM_130801,NM_130802,NM_130803,NM_130804	.	missense SNV	MEN1:NM_000244:exon10:c.A1636G:p.T546A,MEN1:NM_130799:exon10:c.A1621G:p.T541A,MEN1:NM_130800:exon10:c.A1636G:p.T546A,MEN1:NM_130801:exon10:c.A1636G:p.T546A,MEN1:NM_130802:exon10:c.A1636G:p.T546A,MEN1:NM_130803:exon10:c.A1636G:p.T546A,MEN1:NM_130804:exon11:c.A1636G:p.T546A	ENST00000377326.3,ENST00000377321.1,ENST00000443283.1,ENST00000337652.1,ENST00000377313.1,ENST00000377316.2,ENST00000394374.2,ENST00000312049.6,ENST00000315422.4,ENST00000478548.1,ENST00000394376.1	.	11q13.1	.	.	Score=713;Name=V$NRSF_01	.	.	rs2959656	CLINSIG=Benign|Benign|Benign\x2cBenign;CLNDBN=not_provided|not_specified|Multiple_endocrine_neoplasia\x2c_type_1\x2cnot_specified;CLNACC=RCV000034785.3|RCV000082334.5|RCV000204881.1,RCV000121334.3;CLNDSDB=MedGen|MedGen|MedGen:OMIM:ORPHA:SNOMED_CT\x2cMedGen;CLNDSDBID=CN221809|CN169374|C0025267:131100:652:30664006\x2cCN169374	.	0.687708	0.6964	0.834465	0.9084	0.9378	0.7002	0.568147130168	0.631009959135	0.866,T	0.0,B	0.0,B	1,P	0.230928,N	-0.69,N	-5.71,D	5.4999	0.982	0.131	.	3.35	AC=25;AN=38;BQB=0.997848;DP4=329,168,475,352;DP=1830;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.11574;SF=0,1,2,4,5,8,9,10,11,13,14,15,16,17,18,19,20,22,24;SGB=-0.693147;VDB=0.112838	GT:DP:DV:PL	0/1:71:45:255,0,255	1/1:71:70:255,177,0	0/1:94:37:255,0,255	.	1/1:52:52:255,157,0	0/1:107:51:255,0,255	.	.	0/1:73:33:255,0,255	0/1:44:22:255,0,255	1/1:62:62:255,187,0	0/1:65:31:255,0,255	.	0/1:93:49:255,0,255	0/1:85:42:255,0,255	1/1:68:68:255,205,0	0/1:75:30:255,0,255	1/1:50:50:255,151,0	0/1:53:26:255,0,255	1/1:64:64:255,193,0	0/1:61:27:255,0,255	.	0/1:29:15:255,0,255	.	0/1:107:53:255,0,255	T	C	6	13	Multiple endocrine neoplasia 1, 131100 (3); Carcinoid tumor of lung (3); Parathyroid adenoma, somatic (3); Lipoma, somatic (3); Angiofibroma, somatic (3); Adrenal adenoma, somatic (3)	.	Impaired sensitisation to apoptosis(CM085535)	cGCA-ACA|Ala541Thr|c.1621G>A|p.A541T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18775714&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21819486&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22026581&dopt=Abstract)	18775714|21819486|22026581|22327296|22275377|21252315|16415155|16239140|15870131|15333582|15292357|15240620|15205994|12915678|12837246|12791038|12417605|12112656|12050235|11701736|11579199|11549677|11274402|11158604|11134142|11095441|10647896|10439966|10393837|10022445|9989505|9920087|9843042|9740255|9709976|9709922|9709921|9683585|9554741|9543172|9498491|9465067|9463336|9361035|9241276|9236523|9215690|9215689|9103196|6108714|2857681	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;CYTOPLASMIC_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;CYTOSOL;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	.	.	.	REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PS1,PS3,BA1
L	11	66288733	rs10896125	G	C	202	PASS	BBS1	Bardet-Biedl syndrome 1	splicing	NM_024649	NM_024649:exon9:c.724-8G>C	.	.	ENST00000393994.2,ENST00000455748.2,ENST00000529766.1,ENST00000318312.7,ENST00000526986.1,ENST00000419755.3,ENST00000537537.1	.	11q13.2	.	.	Score=806;Name=V$OCT_C	.	.	rs10896125	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000082204.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.284053	0.3036	0.242612	0.2296	0.2321	0.2643	0.222051946401	0.264422831731	.	.	.	.	.	.	.	.	0.305	0.944	.	2.53	AC=15;AN=28;BQB=0.838046;DP4=145,22,158,27;DP=470;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.878264;SF=0,1,5,6,7,8,10,17,18,19,20,21,22,24;SGB=-0.689466;VDB=0.0577274	GT:DP:DV:PL	0/1:25:16:251,0,209	0/1:19:10:255,0,244	.	.	.	0/1:36:16:255,0,255	0/1:28:16:243,0,255	0/1:39:18:255,0,255	0/1:21:10:243,0,249	.	0/1:19:10:230,0,222	.	.	.	.	.	.	0/1:23:9:232,0,255	0/1:22:12:255,0,228	0/1:19:9:240,0,234	1/1:27:27:255,81,0	0/1:30:12:168,0,255	0/1:15:5:147,0,219	.	0/1:29:15:255,0,255	G	C	1	13	Bardet-Biedl syndrome 1, 209900 (3)	.	Bardet-Biedl syndrome(CD104190)	TGCGCTTCTTgtttgcag_I8E9_atg^243AGCCTTCCCA|c.724-8_726del11(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20472660&dopt=Abstract)	20472660|23847139|22072986|21471969|20603001|19081074|18299575|18032602|17959775|17574030|15314642|12837689|12677556|12567324|12524598|12118255	.	.	.	.	.	.	.	PS1,PS3,BA1
L	11	68855363	rs3829241	G	A	167.22	PASS	TPCN2	two pore segment channel 2	exonic	NM_139075	.	missense SNV	TPCN2:NM_139075:exon25:c.G2201A:p.G734E	ENST00000294309.3,ENST00000542467.1,ENST00000442692.2	.	11q13.3	.	.	.	.	.	rs3829241	CLINSIG=other;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_10;CLNACC=RCV000000764.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677088:612267	.	0.210963	0.2063	0.176318	0.2893	0.3025	0.2381	0.178407042879	0.183893769231	1.0,T	0.001,B	0.001,B	1,P	0.228770,N	0,N	-4.07,D	3.6019	-0.426	1.094	.	.	AC=10;AN=18;BQB=0.955854;DP4=34,42,40,45;DP=222;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.867016;SF=1,3,5,8,9,13,14,16,20;SGB=-0.662043;VDB=0.119269	GT:DP:DV:PL	.	0/1:22:9:245,0,255	.	0/1:17:10:196,0,219	.	0/1:23:12:255,0,255	.	.	0/1:15:7:178,0,245	0/1:13:7:215,0,137	.	.	.	1/1:23:23:255,69,0	0/1:13:4:123,0,255	.	0/1:14:4:85,0,255	.	.	.	0/1:21:9:246,0,255	.	.	.	.	G	A	1	8	[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)	.	Hair colour, association with(CM083200)	GGG-GAG|Gly734Glu|c.2201G>A|p.G734E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18488028&dopt=Abstract)	18488028|20720007|19387438|18488028|16382101	.	.	.	.	.	.	.	PS1,PS3,BA1
L	11	69462910	rs9344	G	A	225	PASS	CCND1	cyclin D1	exonic	NM_053056	.	synonymous SNV	CCND1:NM_053056:exon4:c.G723A:p.P241P	ENST00000536559.1,ENST00000227507.2	.	11q13.3	.	.	Score=816;Name=V$PAX2_01	.	.	rs9344	CLINSIG=other|other|other;CLNDBN=Colorectal_cancer\x2c_susceptibility_to|Multiple_myeloma\x2c_translocation_11\x2c14_type|VON_HIPPEL-LINDAU_SYNDROME\x2c_MODIFIER_OF;CLNACC=RCV000014762.4|RCV000083293.4|RCV000087019.4;CLNDSDB=.|MedGen|.;CLNDSDBID=.|CN186214|.	.	0.586379	0.5714	0.413538	0.3867	0.4551	0.5695	0.460184035222	0.527644408654	.	.	.	.	.	.	.	.	0.141	4.930	1.518362,13.41	2.04	AC=30;AN=40;BQB=1;DP4=693,851,2075,2502;DP=8429;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=1,2,3,4,5,6,7,8,10,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.693147;VDB=5.7405e-06	GT:DP:DV:PL	.	1/1:297:297:255,255,0	1/1:301:301:255,255,0	1/1:314:314:255,255,0	1/1:312:312:255,255,0	1/1:357:356:255,255,0	0/1:308:136:255,0,255	1/1:341:341:255,255,0	0/1:302:155:255,0,255	.	1/1:369:369:255,255,0	.	.	0/1:430:207:255,0,255	0/1:321:147:255,0,255	1/1:231:231:255,255,0	0/1:333:187:255,0,255	0/1:251:110:255,0,255	1/1:253:253:255,255,0	0/1:322:163:255,0,255	0/1:365:193:255,0,255	.	0/1:53:23:255,0,255	1/1:289:289:255,255,0	0/1:372:193:255,0,255	G	A	10	10	{Colorectal cancer, susceptibility to}, 114500 (3); {von Hippel-Lindau syndrome, modifier of}, 193300 (3); {Multiple myeloma, susceptibility to}, 254500 (3)	.	HNPCC, early onset, association with(CS004528)	IVS4 ds G-A -1|c.723G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10667569&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17308274&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17960397&dopt=Abstract)	10667569|17308274|17960397|24870244|23540573|23502783|22406644|21654808|21131975|20090754|19412162|18509338|18239128|16864783|16291983|16099835|15331580|15315760|14657069|12917338|12914697|12852854|12808455|12479812|12097293|11459873|11429595|11134518|10839359|10667569|10380928|10201372|9707579|9671416|9207791|8943038|8695815|8499640|8325649|8290586|8208295|8204893|8159685|8049438|7675441|7664341|6610211|3923362|2723071|2011400|1827756|1826542|1684084|1682919|1572647|1386335	POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_MOLECULAR_FUNCTION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PHOSPHORYLATION;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;CELL_CYCLE_GO_0007049;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;POSITIVE_REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELL_CYCLE	.	.	KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_WNT_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_THYROID_CANCER;KEGG_MELANOMA;KEGG_BLADDER_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER;KEGG_VIRAL_MYOCARDITIS	PID_NOTCH_PATHWAY;PID_AR_PATHWAY;PID_FRA_PATHWAY;PID_PS1PATHWAY;PID_ILK_PATHWAY;PID_TELOMERASEPATHWAY;PID_ECADHERIN_NASCENTAJ_PATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_FOXM1PATHWAY;PID_TRKRPATHWAY;PID_CMYB_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_P38GAMMADELTAPATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_PI3KPLCTRKPATHWAY;PID_RB_1PATHWAY;PID_FAK_PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G1_PATHWAY;BIOCARTA_CELLCYCLE_PATHWAY;BIOCARTA_GSK3_PATHWAY;BIOCARTA_RACCYCD_PATHWAY;BIOCARTA_P53_PATHWAY;BIOCARTA_WNT_PATHWAY	REACTOME_CELL_CYCLE;REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_SIGNALING_BY_NOTCH;REACTOME_S_PHASE	PS1,PS3,BA1
L	11	71152461	rs949177	A	G	227.25	PASS	DHCR7	7-dehydrocholesterol reductase	exonic	NM_001163817,NM_001360	.	synonymous SNV	DHCR7:NM_001163817:exon6:c.T438C:p.N146N,DHCR7:NM_001360:exon6:c.T438C:p.N146N	ENST00000355527.3,ENST00000407721.2	.	11q13.4	.	.	.	.	.	rs949177	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000079654.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.835548	0.8274	0.807308	0.9100	0.8747	0.8501	0.674578885145	0.754807495192	.	.	.	.	.	.	.	.	-1.757	-0.057	.	.	AC=45;AN=48;BQB=0.979599;DP4=37,41,729,728;DP=2046;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.962534;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000815839	GT:DP:DV:PL	1/1:59:59:255,178,0	1/1:72:72:255,217,0	1/1:62:62:255,187,0	1/1:57:57:255,172,0	1/1:65:65:255,196,0	1/1:99:99:255,255,0	1/1:69:69:255,208,0	1/1:63:63:255,190,0	1/1:57:57:255,172,0	1/1:54:54:255,163,0	1/1:61:61:255,184,0	1/1:64:64:255,193,0	.	1/1:93:93:255,255,0	0/1:72:38:255,0,255	1/1:59:59:255,178,0	0/1:47:27:255,0,255	0/1:50:26:255,0,255	1/1:56:56:255,169,0	1/1:60:60:255,181,0	1/1:61:61:255,184,0	1/1:91:91:255,255,0	1/1:32:32:255,96,0	1/1:70:70:255,211,0	1/1:62:62:255,187,0	A	G	21	3	Smith-Lemli-Opitz syndrome, 270400 (3)	.	Smith-Lemli-Opitz syndrome(CM107539)	AATg-AAG|Asn146Lys|c.438T>G|p.N146K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20556518&dopt=Abstract)	20556518|22211794|20635399|17965227|16906538|16618793|16044199|15952211|15521979|14556255|12949967|12794707|11857552|11562938|11298379|11230174|11175299|11078571|10995508|10814720|10807690|10710236|10677299|10602371|9714007|9683613|9653161|9634533|9465114|8824192|7560069	BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;NUCLEUS;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;OUTER_MEMBRANE;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_OUTER_MEMBRANE;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;NUCLEAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;NUCLEAR_MEMBRANE_PART	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS	KEGG_STEROID_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_CHOLESTEROL_BIOSYNTHESIS	PS1,PS3,BA1
L	11	73689104	rs660339	G	A	222.95	PASS	UCP2	uncoupling protein 2 (mitochondrial, proton carrier)	exonic	NM_003355	.	missense SNV	UCP2:NM_003355:exon4:c.C164T:p.A55V	ENST00000536983.1,ENST00000310473.3	.	11q13.4	.	.	Score=762;Name=V$NRSF_01	.	.	rs660339	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000118811.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.403654	0.4177	0.416134	0.4178	0.4113	0.4029	0.334609173047	0.366586127404	0.127,T	0.003,B	0.0,B	0.992103,P	0.000126,D	1.43,L	-1.37,T	9.5193	1.533	1.936	0.908754,10.13	5.14	AC=22;AN=38;BQB=0.971976;DP4=315,182,440,285;DP=1566;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.89589;SF=0,1,2,3,4,6,7,8,9,11,15,16,17,18,19,20,21,22,23;SGB=-0.693136;VDB=0.897701	GT:DP:DV:PL	0/1:58:35:255,0,255	0/1:63:34:255,0,255	1/1:79:79:255,238,0	0/1:72:36:255,0,255	0/1:74:40:255,0,255	.	0/1:55:27:255,0,255	0/1:77:39:255,0,255	0/1:51:26:255,0,255	0/1:50:27:255,0,255	.	0/1:43:19:255,0,255	.	.	.	1/1:52:52:255,157,0	0/1:68:39:255,0,255	0/1:62:26:255,0,255	0/1:68:32:255,0,255	0/1:72:29:255,0,255	0/1:74:42:255,0,255	0/1:80:35:255,0,255	0/1:33:17:255,0,255	1/1:91:91:255,255,0	.	G	A	3	16	{Obesity, susceptibility to, BMIQ4}, 607447 (3)	.	Enhanced metabolic efficiency(CM994639)	GCC-GTC|Ala55Val|c.164C>T|p.A55V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10557023&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10071761&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18956255&dopt=Abstract)	10557023|10071761|18956255|21857682|18701716|18668043|18006654|17728716|17082459|15662013|15562023|14679178|12858170|12783416|11780125|11440717|11381268|11228274|11101840|10082652|9700198|9389729|9302267|9139827|9054939|9054925	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT	.	.	.	PID_HNF3BPATHWAY	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	PS1,PS3,BA1
L	11	76912636	rs2276288	A	T	221.13	PASS	MYO7A	myosin VIIA	exonic	NM_000260,NM_001127180	.	missense SNV	MYO7A:NM_000260:exon36:c.A4996T:p.S1666C,MYO7A:NM_001127180:exon36:c.A4882T:p.S1628C	ENST00000409709.3,ENST00000458637.2,ENST00000409619.2	.	11q13.5	.	.	.	.	.	rs2276288	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000036174.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.443522	0.4524	0.551717	0.5891	0.5440	0.4930	0.374425963247	0.41225996875	0.907,T	0.0,B	0.0,B	0.995923,P	0.000153,N	-1.62,N	1.59,T	9.0084	0.791	2.920	.	3.46	AC=19;AN=30;BQB=0.417431;DP4=109,121,194,198;DP=882;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965112;SF=1,2,5,6,7,8,9,11,16,17,18,19,20,22,23;SGB=-0.692562;VDB=0.00853643	GT:DP:DV:PL	.	0/1:47:22:255,0,255	0/1:49:29:255,0,255	.	.	1/1:69:69:255,208,0	0/1:37:19:255,0,255	1/1:54:54:255,163,0	0/1:35:16:255,0,255	0/1:34:16:255,0,255	.	1/1:30:30:255,90,0	.	.	.	.	0/1:39:22:255,0,255	0/1:32:10:219,0,255	0/1:30:13:255,0,255	0/1:40:20:255,0,255	0/1:46:17:255,0,255	.	1/1:29:29:255,87,0	0/1:51:26:255,0,255	.	A	T	4	11	Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2, 600060 (3); Deafness, autosomal dominant 11, 601317 (3)	.	Malignant melanoma, association with(CM097878)	cAGT-TGT|Ser1666Cys|c.4996A>T|p.S1666C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19320733&dopt=Abstract)	19320733|21901789|21311020|21150918|20639393|20132242|18181211|15660226|15221449|12966030|12743369|12485990|12080385|11468276|11391666|10958658|10414956|10364543|10094549|9843659|9718342|9620764|9382091|9354784|9286457|9171833|9171832|9070921|9002678|8900236|8884267|8842737|8622919|7951250|7870172|7870171	LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;SENSORY_PERCEPTION;VACUOLE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;VACUOLE;CYTOSOL;ORGANELLE_MEMBRANE;VACUOLAR_PART;LYSOSOMAL_MEMBRANE;CELL_PROJECTION;VACUOLAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;LYSOSOME;SYNAPSE	CALMODULIN_BINDING	.	.	.	.	PS1,PS3,BA1
L	11	88045583	rs217086	A	G	228	PASS	CTSC	cathepsin C	exonic	NM_001814	.	missense SNV	CTSC:NM_001814:exon3:c.T458C:p.I153T	ENST00000227266.5	.	11q14.2	.	.	.	.	.	rs217086	.	.	0.998339	0.999	0.930911	0.8641	0.8861	0.9995	0.794027526799	0.90024040625	0.725,T	0.0,B	0.0,B	1,P	0.019517,N	-2.3,N	-0.42,T	12.5115	-2.143	-0.616	.	.	AC=50;AN=50;DP4=0,0,583,119;DP=968;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.0479884	GT:DP:DV:PL	1/1:31:31:255,93,0	1/1:23:23:255,69,0	1/1:18:18:255,54,0	1/1:20:20:255,60,0	1/1:31:31:255,93,0	1/1:33:33:255,99,0	1/1:25:25:255,75,0	1/1:28:28:255,84,0	1/1:37:37:255,111,0	1/1:26:26:255,78,0	1/1:26:26:255,78,0	1/1:38:38:255,114,0	1/1:22:22:255,66,0	1/1:25:25:255,75,0	1/1:19:19:255,57,0	1/1:38:38:255,114,0	1/1:31:31:255,93,0	1/1:21:21:255,63,0	1/1:29:29:255,87,0	1/1:30:30:255,90,0	1/1:38:38:255,114,0	1/1:31:31:255,93,0	1/1:17:17:255,51,0	1/1:24:24:255,72,0	1/1:41:41:255,123,0	A	G	25	0	Papillon-Lefevre syndrome, 245000 (3); Haim-Munk syndrome, 245010 (3); Periodontitis 1, juvenile, 170650 (3)	.	Papillon-Lefevre syndrome(CM002936)	ACA-ATA|Thr153Ile|c.458C>T|p.T153I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11106356&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23311634&dopt=Abstract)	11106356|20981092|23311634|17301245|15585850|14974080|11886537|11279033|11180012|11158173|11106356|11015218|10662808|10662807|10593994|10581027|10411926|9624139|9099719|9092576|7649281	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VACUOLE;LYSOSOME	.	KEGG_LYSOSOME	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PS1,PS3,BA1
L	11	102713620	rs679620	T	C	204.11	PASS	MMP3	matrix metallopeptidase 3	exonic	NM_002422	.	missense SNV	MMP3:NM_002422:exon2:c.A133G:p.K45E	ENST00000299855.5	.	11q22.2	.	.	.	.	.	rs679620	.	.	0.652824	0.6657	0.652157	0.5472	0.5891	0.6765	0.521439595712	0.587740358173	1.0,T	0.001,B	0.0,B	1,P	0.064238,N	-0.09,N	1.34,T	6.9869	-0.250	-1.578	.	.	AC=36;AN=48;BQB=0.537242;DP4=69,103,134,275;DP=746;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.918304;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.692914;VDB=0.000186569	GT:DP:DV:PL	1/1:25:25:255,75,0	1/1:21:21:255,63,0	0/1:19:8:232,0,203	0/1:27:10:200,0,255	0/1:32:15:255,0,255	0/1:33:11:194,0,255	1/1:31:31:255,93,0	0/1:26:10:252,0,255	1/1:15:15:255,45,0	0/1:11:3:63,0,236	1/1:28:28:255,84,0	0/1:31:14:227,0,255	1/1:23:23:255,66,0	1/1:25:25:255,75,0	1/1:14:14:255,42,0	0/1:25:10:255,0,255	0/1:25:13:255,0,255	0/1:16:9:144,0,203	1/1:29:29:255,87,0	1/1:14:14:255,42,0	1/1:27:27:255,81,0	1/1:25:25:255,75,0	.	0/1:22:9:229,0,255	0/1:37:20:255,0,255	T	C	12	12	{Coronary heart disease, susceptibility to, 6}, 614466 (3)	.	Blood pressure, association with(CM087504)	cAAA-GAA|Lys45Glu|c.133A>G|p.K45E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19008710&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19406964&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19551141&dopt=Abstract)	19008710|19406964|19551141|16001073|15470062|12952836|12750310|12485468|12477941|11830584|10428026|10351963|10190398|9888422|9699891|9662124|8921407|8662692|8486377|8092999|8040294|7896811|7727178|6175596|4214815|3477804|3360803|3030290|2900807|2785989|2571862|2462278|2039471|1430217	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	METALLOPEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;METALLOENDOPEPTIDASE_ACTIVITY	.	PID_AJDISS_2PATHWAY;PID_P75NTRPATHWAY;PID_UPA_UPAR_PATHWAY	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR	PS1,PS3,BA1
L	11	104763117	rs497116	G	A	228	PASS	CASP12	caspase 12 (gene/pseudogene)	exonic	NM_001191016	.	stopgain	CASP12:NM_001191016:exon3:c.C373T:p.R125X	ENST00000375726.2,ENST00000448103.1,ENST00000422698.2,ENST00000446862.1,ENST00000494737.1,ENST00000447913.1,ENST00000508062.1,ENST00000441710.1,ENST00000433738.1	.	11q22.3	.	.	.	.	.	rs497116	CLINSIG=other;CLNDBN=Sepsis\x2c_susceptibility_to;CLNACC=RCV000002255.2;CLNDSDB=.;CLNDSDBID=.	.	0.996678	0.998	0.948482	.	0.9856	1	0.619318	0.899038576923	.	.	.	8.09104e-15,P	0.600669,N	.	.	9.1469	-0.764	-1.545	5.846765,27.3	.	AC=50;AN=50;DP4=0,0,626,150;DP=1023;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.336649	GT:DP:DV:PL	1/1:30:30:255,90,0	1/1:34:34:255,102,0	1/1:13:13:255,39,0	1/1:41:41:255,123,0	1/1:39:39:255,117,0	1/1:43:43:255,129,0	1/1:27:27:255,81,0	1/1:43:43:255,129,0	1/1:38:38:255,114,0	1/1:34:34:255,102,0	1/1:30:30:255,90,0	1/1:39:39:255,117,0	1/1:23:23:255,69,0	1/1:27:27:255,81,0	1/1:33:33:255,99,0	1/1:34:34:255,102,0	1/1:25:25:255,75,0	1/1:24:24:255,72,0	1/1:32:32:255,96,0	1/1:33:33:255,99,0	1/1:27:27:255,81,0	1/1:37:37:255,111,0	1/1:21:21:255,63,0	1/1:25:25:255,75,0	1/1:24:24:255,72,0	G	A	25	0	{Sepsis, susceptibility to} (3)	.	Sepsis, susceptibility, association with(CM042005)	gTGA-CGA|Term125Arg|c.373T>C|p.*125R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15129283&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16464126&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22471600&dopt=Abstract)	15129283|16464126|22471600|19447924|17088543|16625199|16532395|15129283|12054529|9915938	.	.	.	.	.	.	.	PS1,PS3,BA1
L	11	113270160	rs2734849	A	G	222	PASS	ANKK1	ankyrin repeat and kinase domain containing 1	exonic	NM_178510	.	missense SNV	ANKK1:NM_178510:exon8:c.A1469G:p.H490R	ENST00000303941.3	.	11q23.2	.	.	.	.	.	rs2734849	.	.	0.051495	0.0625	0.245008	0.3919	0.4502	0.0842	0.0467074765697	0.0480769014423	0.774,T	0.003,B	0.0,B	1,P	0.721278,N	-1.785,N	2.47,T	17.9493	-2.467	-0.113	.	.	AC=2;AN=4;BQB=0.98974;DP4=43,42,42,24;DP=195;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.519898;SF=19,20;SGB=-0.693132;VDB=0.818136	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:34:255,0,255	0/1:74:32:255,0,255	.	.	.	.	A	G	0	2	Dopamine receptor D2, reduced brain density of (3)	.	Nicotine dependence, association with(CM085118)	CAT-CGT|His490Arg|c.1469A>G|p.H490R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18354387&dopt=Abstract)	18354387|18927395|18621654|18621654|18063800|15479180|15146457|12471243|11105655|10395223|9672902|9672901|9650634|9429233	.	.	.	.	.	.	.	PS1,PS3,BA1
L	11	116701535	rs4520	T	C	216.35	PASS	APOC3	apolipoprotein C-III	exonic	NM_000040	.	synonymous SNV	APOC3:NM_000040:exon3:c.T102C:p.G34G	ENST00000375345.1,ENST00000227667.3,ENST00000470144.1	.	11q23.3	.	.	.	.	.	rs4520	.	.	0.400332	0.3958	0.597045	0.7406	0.6542	0.3968	0.315467117917	0.362980497596	.	.	.	.	.	.	.	.	-0.797	-0.483	.	.	AC=22;AN=40;BQB=0.980423;DP4=207,183,206,201;DP=1061;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968481;SF=0,2,3,4,5,6,7,8,9,10,11,12,15,16,17,19,20,21,22,23;SGB=-0.688148;VDB=0.534261	GT:DP:DV:PL	0/1:33:15:255,0,255	.	0/1:43:19:255,0,255	0/1:47:23:255,0,255	0/1:44:21:255,0,255	0/1:78:36:255,0,255	0/1:33:22:255,0,249	1/1:37:37:255,111,0	0/1:29:20:255,0,196	0/1:23:7:132,0,255	0/1:41:20:255,0,255	0/1:27:13:255,0,255	0/1:46:28:255,0,255	.	.	0/1:28:16:255,0,255	0/1:25:11:255,0,255	1/1:20:20:255,60,0	.	0/1:39:19:255,0,255	0/1:43:15:255,0,255	0/1:77:28:255,0,255	0/1:24:11:255,0,255	0/1:60:26:255,0,255	.	T	C	2	18	Apolipoprotein C-III deficiency, 614028 (3)	.	Low triglyceride levels(CM942309)	GGTt-GGC|Gly34Gly|c.102T>C|p.G34G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7889654&dopt=Abstract)	7889654|25470695|25225788|24941082|24941081|19074352|15546000|15044382|12697301|12417525|12021280|9691099|8675624|8099442|7295752|6308458|3931073|3123586|3118360|3016655|2879788|2862468|2022742	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;LIPID_TRANSPORT;LIPID_METABOLIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;TRANSPORT;CELLULAR_LIPID_METABOLIC_PROCESS;TRIACYLGLYCEROL_METABOLIC_PROCESS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	.	.	KEGG_PPAR_SIGNALING_PATHWAY	.	.	REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	11	117869670	rs2229113	A	G	228	PASS	IL10RA	interleukin 10 receptor, alpha	exonic	NM_001558	.	missense SNV	IL10RA:NM_001558:exon7:c.A1051G:p.R351G	ENST00000541785.1,ENST00000227752.3,ENST00000533700.1,ENST00000545409.1	.	11q23.3	.	.	.	.	.	rs2229113	.	.	0.993355	0.9931	0.811102	0.7284	0.7381	0.9956	0.79096470291	0.895432223558	0.601,T	0.0,B	0.0,B	1,P	0.077009,N	-1.74,N	1.77,T	5.621	0.073	0.039	.	.	AC=50;AN=50;DP4=0,0,735,668;DP=1804;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0018345	GT:DP:DV:PL	1/1:51:51:255,154,0	1/1:46:46:255,138,0	1/1:56:56:255,169,0	1/1:61:61:255,184,0	1/1:52:52:255,157,0	1/1:103:103:255,255,0	1/1:36:36:255,108,0	1/1:60:60:255,181,0	1/1:43:43:255,129,0	1/1:43:43:255,129,0	1/1:59:59:255,178,0	1/1:48:48:255,144,0	1/1:55:55:255,166,0	1/1:63:63:255,190,0	1/1:54:54:255,163,0	1/1:45:45:255,135,0	1/1:54:54:255,163,0	1/1:39:39:255,117,0	1/1:65:65:255,196,0	1/1:40:40:255,120,0	1/1:43:43:255,129,0	1/1:100:100:255,255,0	1/1:40:40:255,120,0	1/1:80:80:255,241,0	1/1:67:67:255,202,0	A	G	25	0	Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)	.	Diminished inhibitory effect on TNF-alpha production, association(CM035836)	cGGG-AGG|Gly351Arg|c.1051G>A|p.G351R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12759436&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17066477&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18800073&dopt=Abstract)	12759436|17066477|18800073|24792913|22476154|21519361|19890111|12759436|8407942|8248239|8120391|7814035	.	MEMBRANE;PLASMA_MEMBRANE	INTERLEUKIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	.	BIOCARTA_IL10_PATHWAY;BIOCARTA_IL22BP_PATHWAY	.	PS1,PS3,BA1
L	11	121448090	rs2070045	T	G	225.22	PASS	SORL1	sortilin-related receptor, L(DLR class) A repeats containing	exonic	NM_003105	.	synonymous SNV	SORL1:NM_003105:exon25:c.T3561G:p.S1187S	ENST00000534286.1,ENST00000532694.1,ENST00000525532.1,ENST00000260197.7	.	11q24.1	.	.	.	.	.	rs2070045	.	.	0.583056	0.5685	0.340855	0.1876	0.3127	0.5789	0.458652300153	0.52764396875	.	.	.	.	.	.	.	.	-0.253	-1.271	.	.	AC=29;AN=36;BQB=0.910296;DP4=131,56,584,217;DP=1385;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998331;SF=1,3,4,5,8,9,10,11,12,13,14,16,17,19,20,21,22,24;SGB=-0.693147;VDB=0.0513211	GT:DP:DV:PL	.	1/1:61:61:255,184,0	.	1/1:55:55:255,166,0	1/1:50:50:255,151,0	0/1:80:42:255,0,255	.	.	1/1:55:55:255,166,0	0/1:33:16:255,0,255	1/1:54:54:255,163,0	0/1:38:14:247,0,255	0/1:42:21:255,0,255	1/1:73:73:255,220,0	1/1:60:60:255,181,0	.	1/1:57:57:255,172,0	0/1:50:24:255,0,255	.	1/1:44:44:255,132,0	1/1:64:64:255,193,0	1/1:72:72:255,217,0	0/1:27:10:255,0,255	.	0/1:73:29:255,0,255	T	G	11	7	{Alzheimer disease, pathogenesis, association with}, 104300 (3)	.	Alzheimer disease, association with(CM123835)	TCTg-TCG|Ser1187Ser|c.3561T>G|p.S1187S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22410445&dopt=Abstract)	22410445|21220680|19822782|17721864|17564960|17420311|17220890|15313836|14764453|12530537|11294867|8940146	ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;RECEPTOR_MEDIATED_ENDOCYTOSIS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	.	.	.	.	PS1,PS3,BA1
L	11	126162862	rs7932766	C	T	222	PASS	TIRAP	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	exonic	NM_001039661,NM_148910	.	synonymous SNV	TIRAP:NM_001039661:exon5:c.C558T:p.A186A,TIRAP:NM_148910:exon5:c.C558T:p.A186A	ENST00000533378.1,ENST00000392679.1,ENST00000392678.3,ENST00000392680.2	.	11q24.2	.	.	.	.	.	rs7932766	.	.	0.0265781	0.0397	0.133986	0.2037	0.1835	0.0306	0.0252679915773	0.0228365639423	.	.	.	.	.	.	.	.	1.377	-0.272	1.306675,12.30	3.45	AC=3;AN=6;BQB=0.846318;DP4=73,27,77,41;DP=306;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.810402;SF=1,17,20;SGB=-0.693143;VDB=0.315653	GT:DP:DV:PL	.	0/1:70:38:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:32:255,0,255	.	.	0/1:86:48:255,0,255	.	.	.	.	C	T	0	3	{Pneumococcal disease, invasive, protection against}, 610799 (3); {Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3)	.	Meningeal tuberculosis, susceptibility, association with(CM068475)	GCCt-GCT|Ala186Ala|c.558C>T|p.A186A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16991088&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19693265&dopt=Abstract)	16991088|19693265|20164415|18305471|17360653|17322885|16991088|16751103|12447442|12447441|12083783|11544529|11526399	.	.	.	KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY	PID_TOLL_ENDOGENOUS_PATHWAY	BIOCARTA_GSK3_PATHWAY;BIOCARTA_TOLL_PATHWAY	REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PS1,PS3,BA1
L	12	990912	rs956868	A	C	193.25	PASS	WNK1	WNK lysine deficient protein kinase 1	exonic	NM_001184985,NM_014823,NM_018979,NM_213655	.	missense SNV	WNK1:NM_014823:exon11:c.A2425C:p.T809P,WNK1:NM_001184985:exon13:c.A3946C:p.T1316P,WNK1:NM_018979:exon13:c.A3166C:p.T1056P,WNK1:NM_213655:exon13:c.A3922C:p.T1308P	ENST00000530271.2,ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000535572.1	.	12p13.33	.	.	.	.	.	rs956868	.	.	0.80897	0.8175	0.852835	0.8526	0.8314	0.7978	0.65007676876	0.723557620192	.	.	.	0.999992,P	.	.	.	1.8534	-0.088	0.010	.	.	AC=39;AN=48;BQB=0.974693;DP4=60,17,266,65;DP=587;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951002;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.689466;VDB=0.00235182	GT:DP:DV:PL	1/1:16:16:255,48,0	0/1:18:7:212,0,254	0/1:10:3:89,0,241	0/1:12:7:227,0,135	1/1:26:26:255,78,0	1/1:18:18:255,54,0	1/1:9:9:255,27,0	1/1:23:23:255,69,0	0/1:18:8:212,0,216	1/1:28:28:255,84,0	.	1/1:16:16:255,48,0	0/1:10:3:76,0,202	1/1:15:15:255,45,0	0/1:12:7:175,0,178	1/1:20:20:255,60,0	0/1:22:9:247,0,255	1/1:12:12:255,36,0	0/1:15:4:99,0,255	1/1:17:17:255,51,0	0/1:22:14:255,0,167	1/1:25:25:255,75,0	1/1:5:5:182,15,0	1/1:17:17:255,51,0	1/1:22:22:255,66,0	A	C	15	9	Pseudohypoaldosteronism, type IIC, 614492 (3); Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)	.	Colorectal cancer, increased risk, association with(CM065520)	CCC-ACC|Pro1056Thr|c.3166C>A|p.P1056T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17000706&dopt=Abstract)	17000706|22934535|18580052|18521183|17975670|17380208|17194447|16946995|16832045|16709664|16636245|16534117|16006511|15911806|15883153|15841204|15455397|15350218|15060842|15060842|14645531|14610273|12671053|12522152|12374799|11498583|10869238|10828064|10660600|9205841|8528245	ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;TRANSPORT;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ION_TRANSPORT;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASM	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	.	.	.	PS1,PS3,BA1
L	12	4479549	rs7955866	G	A	222.43	PASS	FGF23	fibroblast growth factor 23	exonic	NM_020638	.	missense SNV	FGF23:NM_020638:exon3:c.C716T:p.T239M	ENST00000237837.1	CpG: 38	12p13.32	.	.	Score=761;Name=V$PAX5_01	.	.	rs7955866	.	.	0.252492	0.2302	0.147364	0.1053	0.1239	0.1984	0.175344704441	0.212740701923	0.305,T	0.0,B	0.001,B	1,P	0.033867,N	-0.205,N	-1.21,T	8.2635	-2.065	-0.405	.	.	AC=15;AN=28;BQB=0.707729;DP4=235,82,297,89;DP=905;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.791006;SF=0,1,2,3,4,8,10,13,14,15,18,20,21,24;SGB=-0.692831;VDB=0.883174	GT:DP:DV:PL	0/1:43:24:255,0,255	0/1:46:23:255,0,255	0/1:54:30:255,0,255	1/1:55:55:255,166,0	0/1:59:26:255,0,255	.	.	.	0/1:48:27:255,0,255	.	0/1:54:29:255,0,255	.	.	0/1:43:24:255,0,255	0/1:43:22:255,0,255	0/1:44:20:255,0,255	.	.	0/1:47:26:255,0,255	.	0/1:43:21:255,0,255	0/1:66:31:255,0,255	.	.	0/1:58:28:255,0,255	G	A	1	13	Hypophosphatemic rickets, autosomal dominant, 193100 (3); Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)	.	Calcium nephrolithiasis with renal phosphate leak, association with(CM123510)	ACG-ATG|Thr239Met|c.716C>T|p.T239M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22419710&dopt=Abstract)	22419710|17086194|16638743|16151858|16030159|15590700|14966565|12711740|12414858|12130585|11409890|11371627|11344269|11157998|11062477|11032749|9024275|1353055	.	.	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_MELANOMA	PID_FGF_PATHWAY	.	REACTOME_NEGATIVE_REGULATION_OF_FGFR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_ACTIVATED_POINT_MUTANTS_OF_FGFR2;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_ACTIVATED_POINT_MUTANTS_OF_FGFR1;REACTOME_SIGNALING_BY_FGFR3_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS;REACTOME_FRS2_MEDIATED_CASCADE;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION;REACTOME_FGFR2C_LIGAND_BINDING_AND_ACTIVATION;REACTOME_FGFR4_LIGAND_BINDING_AND_ACTIVATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_FGFR1_LIGAND_BINDING_AND_ACTIVATION;REACTOME_PI3K_CASCADE	PS1,PS3,BA1
L	12	6127891	rs1800385	C	A	217.75	PASS	VWF	von Willebrand factor	exonic	NM_000552	.	missense SNV	VWF:NM_000552:exon28:c.G4693T:p.V1565L	ENST00000261405.5	.	12p13.31	.	.	Score=822;Name=V$HMX1_01	Score=0.967774;Name=chr22:17161396	.	rs1800385	.	.	0.348837	0.37	0.175719	0.0610	0.1434	0.3823	0.348837	0.311297793269	0.382,T	0.002,B	0.0,B	0.998133,P	0.392094,N	1.23,L	-1.14,T	6.7102	0.671	0.966	.	.	AC=22;AN=32;BQB=0.757602;DP4=123,55,230,107;DP=613;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.106213;MQSB=0.357386;RPB=0.925985;SF=2,3,4,5,6,8,10,11,12,13,14,15,16,19,20,24;SGB=-0.69168;VDB=0.748243	GT:DP:DV:PL	.	.	0/1:41:19:255,0,255	1/1:39:39:255,117,0	0/1:35:20:255,0,255	0/1:47:19:255,0,255	0/1:31:15:255,0,255	.	0/1:36:22:255,0,255	.	1/1:22:22:255,66,0	0/1:31:20:255,0,217	0/1:32:12:213,0,255	0/1:34:22:255,0,253	1/1:14:14:255,42,0	1/1:25:25:255,75,0	0/1:29:8:194,0,255	.	.	1/1:32:32:255,96,0	0/1:36:17:255,0,255	.	.	.	1/1:31:31:255,93,0	C	A	6	10	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)	.	Proteolysis by ADAMTS13, susceptibility to(CM921044)	GTG-TTG|Val1565Leu|c.4693G>T|p.V1565L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17296575&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1586703&dopt=Abstract)	17296575|1586703|20409624|20371742|20351307|20335223|20231421|20200350|19687512|19372260|19060241|18492805|17121983|17080221|16925796|16889557|16643449|16459301|15755288|15461624|14525793|14512308|12649144|12588351|12406074|12183630|12043692|11756169|11698279|10494765|9689113|9569179|9569178|9253800|9045854|8865541|8839833|8622978|8500791|8486782|8456432|8456431|8456430|8435341|8367445|8318738|8134377|7789955|6982737|6982283|6773982|6767976|6696046|6426499|6165414|6161373|3926021|3877913|3875078|3874428|3524673|3496594|3491324|3489923|3489483|3488775|3486471|3259690|3258663|3257148|3132965|3105624|3033024|2898953|2864688|2786201|2584182|2557900|2385594|2297569|2124499|2104761|2018834|2011604|2010538|1988154|1988024|1967540|1906179|1832934|1761120|1729889|1673047|1672694|1587530|1581215|1487245|1439770|1419804|1419803|1415226|1409710|1302613|1301136|310584	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;HEMOSTASIS;CELL_ACTIVATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;PROTEIN_HOMOOLIGOMERIZATION;RESPONSE_TO_WOUNDING	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE	INTEGRIN_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;CHAPERONE_BINDING;PROTEIN_N_TERMINUS_BINDING;PROTEIN_COMPLEX_BINDING;COLLAGEN_BINDING;RECEPTOR_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6128170	rs1800383	C	G	222.86	PASS	VWF	von Willebrand factor	exonic	NM_000552	.	missense SNV	VWF:NM_000552:exon28:c.G4414C:p.D1472H	ENST00000261405.5	.	12p13.31	.	.	Score=774;Name=V$HTF_01	Score=0.967774;Name=chr22:17161396	.	rs1800383	.	.	0.129568	0.1081	0.233227	0.1761	0.1273	0.1153	0.0895864600306	0.1129806875	0.149,T	0.001,B	0.0,B	1,P	0.094083,N	-1.085,N	-1.11,T	10.0439	-0.533	-0.228	.	.	AC=8;AN=14;BQB=0.660973;DP4=223,110,283,181;DP=1020;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0507464;MQSB=0.693464;RPB=0.686486;SF=7,9,13,18,20,21,22;SGB=-0.693147;VDB=0.0173479	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:124:57:255,0,255	.	0/1:87:44:255,0,255	.	.	.	0/1:149:74:255,0,255	.	.	.	.	0/1:120:55:255,0,255	.	0/1:117:53:255,0,255	1/1:156:156:255,255,0	0/1:44:25:255,0,255	.	.	C	G	1	6	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)	.	Altered ristocetin-induced platelet aggregation(HM070121) || Von Willebrand disease 3(CI034194)	GAC-CAC|Asp1472His|c.4414G>C|p.D1472H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20231421&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23520336&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23690449&dopt=Abstract) || ACTCTG^1470CCCCcCCGACATGGC|c.4413dupC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12737944&dopt=Abstract)	20231421|23520336|23690449|12737944|20409624|20371742|20351307|20335223|20231421|20200350|19687512|19372260|19060241|18492805|17121983|17080221|16925796|16889557|16643449|16459301|15755288|15461624|14525793|14512308|12649144|12588351|12406074|12183630|12043692|11756169|11698279|10494765|9689113|9569179|9569178|9253800|9045854|8865541|8839833|8622978|8500791|8486782|8456432|8456431|8456430|8435341|8367445|8318738|8134377|7789955|6982737|6982283|6773982|6767976|6696046|6426499|6165414|6161373|3926021|3877913|3875078|3874428|3524673|3496594|3491324|3489923|3489483|3488775|3486471|3259690|3258663|3257148|3132965|3105624|3033024|2898953|2864688|2786201|2584182|2557900|2385594|2297569|2124499|2104761|2018834|2011604|2010538|1988154|1988024|1967540|1906179|1832934|1761120|1729889|1673047|1672694|1587530|1581215|1487245|1439770|1419804|1419803|1415226|1409710|1302613|1301136|310584	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;HEMOSTASIS;CELL_ACTIVATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;PROTEIN_HOMOOLIGOMERIZATION;RESPONSE_TO_WOUNDING	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE	INTEGRIN_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;CHAPERONE_BINDING;PROTEIN_N_TERMINUS_BINDING;PROTEIN_COMPLEX_BINDING;COLLAGEN_BINDING;RECEPTOR_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6128443	rs216311	T	C	226.75	PASS	VWF	von Willebrand factor	exonic	NM_000552	.	missense SNV	VWF:NM_000552:exon28:c.A4141G:p.T1381A	ENST00000261405.5	.	12p13.31	.	.	.	Score=0.967774;Name=chr22:17161396	.	rs216311	.	.	0.760797	0.746	0.775559	0.7087	0.6798	0.7615	0.602603456355	0.687499704327	1.0,T	0.001,B	0.0,B	1,P	0.738955,N	-2.085,N	-1.57,D	9.5333	-0.389	1.834	.	.	AC=43;AN=48;BQB=0.914941;DP4=197,173,1483,1303;DP=4225;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=4.02019e-08;MQSB=0.0250729;RPB=0.883313;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.174012	GT:DP:DV:PL	1/1:110:110:255,255,0	0/1:151:70:255,0,255	0/1:119:55:255,0,255	1/1:141:141:255,255,0	0/1:137:66:255,0,255	0/1:172:79:255,0,255	1/1:118:118:255,255,0	1/1:152:152:255,255,0	1/1:134:134:255,255,0	1/1:96:96:255,255,0	1/1:147:147:255,255,0	1/1:105:105:255,255,0	0/1:116:57:255,0,255	1/1:172:172:255,255,0	1/1:130:130:255,255,0	1/1:110:109:255,255,0	1/1:119:119:255,255,0	.	1/1:134:134:255,255,0	1/1:120:119:255,255,0	1/1:109:109:255,255,0	1/1:210:210:255,255,0	1/1:48:48:255,144,0	1/1:144:144:255,255,0	1/1:162:162:255,255,0	T	C	19	5	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)	.	Increased affinity for GPIb alpha(CM074634)	GCC-ACC|Ala1381Thr|c.4141G>A|p.A1381T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17598011&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23358615&dopt=Abstract)	17598011|23358615|20409624|20371742|20351307|20335223|20231421|20200350|19687512|19372260|19060241|18492805|17121983|17080221|16925796|16889557|16643449|16459301|15755288|15461624|14525793|14512308|12649144|12588351|12406074|12183630|12043692|11756169|11698279|10494765|9689113|9569179|9569178|9253800|9045854|8865541|8839833|8622978|8500791|8486782|8456432|8456431|8456430|8435341|8367445|8318738|8134377|7789955|6982737|6982283|6773982|6767976|6696046|6426499|6165414|6161373|3926021|3877913|3875078|3874428|3524673|3496594|3491324|3489923|3489483|3488775|3486471|3259690|3258663|3257148|3132965|3105624|3033024|2898953|2864688|2786201|2584182|2557900|2385594|2297569|2124499|2104761|2018834|2011604|2010538|1988154|1988024|1967540|1906179|1832934|1761120|1729889|1673047|1672694|1587530|1581215|1487245|1439770|1419804|1419803|1415226|1409710|1302613|1301136|310584	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;HEMOSTASIS;CELL_ACTIVATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;PROTEIN_HOMOOLIGOMERIZATION;RESPONSE_TO_WOUNDING	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE	INTEGRIN_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;CHAPERONE_BINDING;PROTEIN_N_TERMINUS_BINDING;PROTEIN_COMPLEX_BINDING;COLLAGEN_BINDING;RECEPTOR_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6143984	rs216321	T	C	226.5	PASS	VWF	von Willebrand factor	exonic	NM_000552	.	missense SNV	VWF:NM_000552:exon20:c.A2555G:p.Q852R	ENST00000261405.5	.	12p13.31	.	.	.	.	.	rs216321	.	.	0.780731	0.7907	0.896965	0.9239	0.8992	0.7982	0.629402803982	0.706730711538	1.0,T	0.0,B	0.0,B	1,P	0.182460,N	-0.425,N	-0.09,T	10.0409	-0.099	-0.542	.	.	AC=42;AN=48;BQB=0.98262;DP4=138,50,937,388;DP=2124;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999135;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0027369	GT:DP:DV:PL	1/1:51:51:255,154,0	1/1:45:45:255,135,0	.	1/1:61:61:255,184,0	1/1:43:43:255,129,0	0/1:76:40:255,0,255	1/1:73:73:255,220,0	1/1:74:74:255,223,0	0/1:55:25:255,0,255	0/1:51:26:255,0,255	0/1:67:36:255,0,255	1/1:49:49:255,148,0	0/1:55:24:255,0,255	1/1:87:87:255,255,0	1/1:70:70:255,211,0	1/1:59:59:255,178,0	0/1:65:31:255,0,255	1/1:55:55:255,166,0	1/1:52:52:255,157,0	1/1:80:79:255,181,0	1/1:70:70:255,211,0	1/1:77:77:255,232,0	1/1:39:39:255,117,0	1/1:76:76:255,229,0	1/1:83:83:255,250,0	T	C	18	6	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)	.	Reduced vWF plasma protein levels(CM108222)	CGG-CAG|Arg852Gln|c.2555G>A|p.R852Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20941784&dopt=Abstract)	20941784|20409624|20371742|20351307|20335223|20231421|20200350|19687512|19372260|19060241|18492805|17121983|17080221|16925796|16889557|16643449|16459301|15755288|15461624|14525793|14512308|12649144|12588351|12406074|12183630|12043692|11756169|11698279|10494765|9689113|9569179|9569178|9253800|9045854|8865541|8839833|8622978|8500791|8486782|8456432|8456431|8456430|8435341|8367445|8318738|8134377|7789955|6982737|6982283|6773982|6767976|6696046|6426499|6165414|6161373|3926021|3877913|3875078|3874428|3524673|3496594|3491324|3489923|3489483|3488775|3486471|3259690|3258663|3257148|3132965|3105624|3033024|2898953|2864688|2786201|2584182|2557900|2385594|2297569|2124499|2104761|2018834|2011604|2010538|1988154|1988024|1967540|1906179|1832934|1761120|1729889|1673047|1672694|1587530|1581215|1487245|1439770|1419804|1419803|1415226|1409710|1302613|1301136|310584	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;HEMOSTASIS;CELL_ACTIVATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;PROTEIN_HOMOOLIGOMERIZATION;RESPONSE_TO_WOUNDING	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE	INTEGRIN_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;CHAPERONE_BINDING;PROTEIN_N_TERMINUS_BINDING;PROTEIN_COMPLEX_BINDING;COLLAGEN_BINDING;RECEPTOR_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6153534	rs1063856	T	C	222.6	PASS	VWF	von Willebrand factor	exonic	NM_000552	.	missense SNV	VWF:NM_000552:exon18:c.A2365G:p.T789A	ENST00000261405.5	.	12p13.31	.	.	.	.	.	rs1063856	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000086605.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	Coagulation factor levels	0.10299	0.0913	0.336262	0.4289	0.3232	0.0740	0.0712097905054	0.0865384483173	1.0,T	0.0,B	0.0,B	0.999986,P	0.040287,N	-1.025,N	-2.64,D	9.2439	0.446	0.890	.	2.17	AC=6;AN=10;BQB=0.783012;DP4=97,34,127,51;DP=439;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.907037;SF=7,9,20,21,23;SGB=-0.693147;VDB=0.234348	GT:DP:DV:PL	.	.	.	.	.	.	.	1/1:55:55:255,166,0	.	0/1:34:11:253,0,255	.	.	.	.	.	.	.	.	.	.	0/1:55:29:255,0,255	0/1:87:42:255,0,255	.	0/1:78:41:255,0,255	.	T	C	1	4	von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)	23267103(6E-7);23267103(5E-16)	Von Willebrand disease, quantitative type, association with(CM093840) || Von Willebrand disease 2n(CM107283)	ACC-GCC|Thr789Ala|c.2365A>G|p.T789A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18923835&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23690449&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23636243&dopt=Abstract) || ACC-CCC|Thr789Pro|c.2365A>C|p.T789P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20491956&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22133274&dopt=Abstract)	18923835|23690449|23636243|20491956|22133274|20409624|20371742|20351307|20335223|20231421|20200350|19687512|19372260|19060241|18492805|17121983|17080221|16925796|16889557|16643449|16459301|15755288|15461624|14525793|14512308|12649144|12588351|12406074|12183630|12043692|11756169|11698279|10494765|9689113|9569179|9569178|9253800|9045854|8865541|8839833|8622978|8500791|8486782|8456432|8456431|8456430|8435341|8367445|8318738|8134377|7789955|6982737|6982283|6773982|6767976|6696046|6426499|6165414|6161373|3926021|3877913|3875078|3874428|3524673|3496594|3491324|3489923|3489483|3488775|3486471|3259690|3258663|3257148|3132965|3105624|3033024|2898953|2864688|2786201|2584182|2557900|2385594|2297569|2124499|2104761|2018834|2011604|2010538|1988154|1988024|1967540|1906179|1832934|1761120|1729889|1673047|1672694|1587530|1581215|1487245|1439770|1419804|1419803|1415226|1409710|1302613|1301136|310584	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;HEMOSTASIS;CELL_ACTIVATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;PROTEIN_HOMOOLIGOMERIZATION;RESPONSE_TO_WOUNDING	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE	INTEGRIN_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;CHAPERONE_BINDING;PROTEIN_N_TERMINUS_BINDING;PROTEIN_COMPLEX_BINDING;COLLAGEN_BINDING;RECEPTOR_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6440009	rs1800693	T	C	196.89	PASS	TNFRSF1A	tumor necrosis factor receptor superfamily, member 1A	splicing	NM_001065	NM_001065:exon6:c.625+10A>G	.	.	ENST00000540022.1,ENST00000162749.2	.	12p13.31	.	.	.	.	.	rs1800693	CLINSIG=other;CLNDBN=Multiple_sclerosis\x2c_susceptibility_to\x2c_5;CLNACC=RCV000030698.5;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3553728:614810	Multiple sclerosis,Primary biliary cirrhosis	0.101329	0.123	0.29972	0.3876	0.3621	0.1478	0.0857580940276	0.0841346754808	.	.	.	.	.	.	.	.	0.235	-0.070	.	2.53	AC=9;AN=18;BQB=0.153235;DP4=40,43,59,53;DP=245;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.867289;SF=5,8,9,10,15,16,17,20,22;SGB=-0.689466;VDB=0.22877	GT:DP:DV:PL	.	.	.	.	.	0/1:31:16:255,0,255	.	.	0/1:33:21:255,0,232	0/1:17:8:187,0,255	0/1:25:13:254,0,255	.	.	.	.	0/1:16:10:236,0,123	0/1:23:13:255,0,248	0/1:12:5:119,0,198	.	.	0/1:18:11:255,0,196	.	0/1:20:15:255,0,91	.	.	T	C	0	9	Periodic fever, familial, 142680 (3); {Multiple sclerosis, susceptibility to, 5}, 614810 (3)	21833088(4E-14);21399635(2E-9);19525953(2E-11)	Multiple sclerosis, association with(CS128048)	IVS6 ds A-G +10|c.625+10A>G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22801493&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23624563&dopt=Abstract)	22801493|23624563|24211183|24025841|23955153|23376950|22801493|21393509|20421368|19641494|19029521|17431682|17360963|16780563|15856221|15841213|15586174|14724177|14694358|13130484|12887920|11443543|11175303|11115261|10902757|10875917|10199409|9585614|9529351|9115275|9038203|8673925|8397073|8395024|7540941|7156325|3001529|2848815|2549042|2170974|2160731|2158863|2158862|2158104|2153136|1698610|1662415|1655358|1648547|1402641|1315717	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;REGULATION_OF_DEFENSE_RESPONSE;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;DEFENSE_RESPONSE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;REGULATION_OF_SIGNAL_TRANSDUCTION;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;REGULATION_OF_RESPONSE_TO_STIMULUS;ICOSANOID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_METABOLIC_PROCESS;CYTOKINE_AND_CHEMOKINE_MEDIATED_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;RESPONSE_TO_WOUNDING;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;CYTOKINE_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_APOPTOSIS;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE;KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	PID_NFKAPPABCANONICALPATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_TNFPATHWAY;PID_CERAMIDE_PATHWAY;PID_HIVNEFPATHWAY;PID_CASPASE_PATHWAY	BIOCARTA_RELA_PATHWAY;BIOCARTA_CERAMIDE_PATHWAY;BIOCARTA_TID_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_KERATINOCYTE_PATHWAY;BIOCARTA_NFKB_PATHWAY;BIOCARTA_PML_PATHWAY;BIOCARTA_SODD_PATHWAY;BIOCARTA_STRESS_PATHWAY;BIOCARTA_TNFR1_PATHWAY	REACTOME_EXTRINSIC_PATHWAY_FOR_APOPTOSIS;REACTOME_APOPTOSIS	PS1,PS3,BA1
L	12	6457062	rs2228576	T	C	160.45	PASS	SCNN1A	sodium channel, non voltage gated 1 alpha subunit	exonic	NM_001038,NM_001159575,NM_001159576	.	missense SNV	SCNN1A:NM_001159576:exon12:c.A2164G:p.T722A,SCNN1A:NM_001038:exon13:c.A1987G:p.T663A,SCNN1A:NM_001159575:exon13:c.A2056G:p.T686A	ENST00000228916.2,ENST00000543768.1,ENST00000360168.3,ENST00000540037.1,ENST00000396966.2,ENST00000358945.3	.	12p13.31	.	.	.	.	.	rs2228576	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000151811.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.475083	0.496	0.740615	0.7629	0.7133	0.5443	0.475083	0.420673072115	1.0,T	0.0,B	0.0,B	1,P	0.520473,N	-1.59,N	-0.08,T	3.4713	0.425	-0.586	.	.	AC=27;AN=40;BQB=0.999702;DP4=146,5,272,7;DP=525;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.943335;SF=0,1,2,4,5,7,8,9,10,11,14,15,16,17,18,19,20,21,22,24;SGB=-0.69168;VDB=0.0103866	GT:DP:DV:PL	1/1:19:19:249,57,0	1/1:27:27:255,81,0	0/1:27:12:146,0,211	.	1/1:24:24:196,72,0	1/1:16:16:222,48,0	.	0/1:19:11:176,0,140	0/1:24:9:153,0,217	0/1:20:9:179,0,208	1/1:25:25:255,75,0	0/1:17:10:167,0,128	.	.	0/1:20:11:201,0,131	0/1:26:10:158,0,161	1/1:29:29:255,87,0	0/1:19:8:187,0,169	0/1:26:13:226,0,225	0/1:17:5:95,0,241	0/1:25:11:165,0,178	0/1:23:10:165,0,192	1/1:6:6:143,18,0	.	0/1:21:14:237,0,113	T	C	7	13	Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)	.	Hypertension, reduced risk, association with(CM994637)	ACC-GCC|Thr663Ala|c.1987A>G|p.T663A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10523338&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15069064&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16249274&dopt=Abstract)	10523338|15069064|16249274|20107438|19462466|15077107|12581520|11756432|11752024|11470165|11244092|10586178|10580502|10510337|10074483|9654209|9654208|9189867|9063411|8902878|8617496|8589728|8589714|8530100|8278374|8107805|7896277	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;EXCRETION;TRANSPORT;SODIUM_ION_TRANSPORT;SECRETION;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	.	.	KEGG_TASTE_TRANSDUCTION;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	.	.	.	PS1,PS3,BA1
L	12	6954875	rs5443	C	T	224.53	PASS	GNB3	guanine nucleotide binding protein (G protein), beta polypeptide 3	exonic	NM_001297571,NM_002075	.	synonymous SNV	GNB3:NM_001297571:exon9:c.C822T:p.S274S,GNB3:NM_002075:exon9:c.C825T:p.S275S	ENST00000435982.2,ENST00000229264.3,ENST00000422785.3,ENST00000604599.1	.	12p13.31	.	.	Score=703;Name=V$HOX13_01	.	.	rs5443	.	.	0.511628	0.503	0.492212	0.4498	0.3598	0.5256	0.402756502297	0.454327038462	.	.	.	.	.	.	.	.	-2.212	-4.718	1.677612,14.28	.	AC=27;AN=38;BQB=0.772568;DP4=207,110,663,252;DP=1748;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.732632;SF=1,3,4,5,7,8,10,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.368192	GT:DP:DV:PL	.	0/1:62:30:255,0,255	.	1/1:68:68:255,205,0	0/1:49:26:255,0,255	1/1:102:102:255,255,0	.	0/1:56:33:255,0,255	0/1:49:24:255,0,255	.	1/1:75:75:255,226,0	.	0/1:51:26:255,0,255	1/1:88:88:255,255,0	0/1:56:26:255,0,255	0/1:49:21:255,0,255	0/1:61:34:255,0,255	.	0/1:52:26:255,0,255	1/1:74:74:255,223,0	0/1:58:26:255,0,255	1/1:87:87:255,255,0	1/1:21:21:255,63,0	0/1:101:55:255,0,255	1/1:73:73:255,220,0	C	T	8	11	{Hypertension, essential, susceptibility to}, 145500 (3)	.	Hypertension, association with(CS983412)	IVS10 ds C-T -92|c.825C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9425898&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15212839&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18656447&dopt=Abstract)	9425898|15212839|18656447|12697327|12668921|12454992|11322952|10770310|10770309|10770297|10523525|10477144|9425898|9241263|8901592|8888689|8878424|7635969|2107550|1979057|1572642	REGULATION_OF_BIOLOGICAL_QUALITY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_BLOOD_PRESSURE;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SYSTEM_PROCESS	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_TASTE_TRANSDUCTION	PID_CONE_PATHWAY	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_G_PROTEIN_ACTIVATION;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_INHIBITION_OF_INSULIN_SECRETION_BY_ADRENALINE_NORADRENALINE;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PLC_BETA;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_THROMBOXANE_SIGNALLING_THROUGH_TP_RECEPTOR;REACTOME_ADP_SIGNALLING_THROUGH_P2RY12;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_GPCR_LIGAND_BINDING;REACTOME_THROMBIN_SIGNALLING_THROUGH_PROTEINASE_ACTIVATED_RECEPTORS_PARS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_PROSTACYCLIN_SIGNALLING_THROUGH_PROSTACYCLIN_RECEPTOR;REACTOME_INCRETIN_SYNTHESIS_SECRETION_AND_INACTIVATION;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GLP1;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_HEMOSTASIS;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	6976688	rs1800200	A	G	215.17	PASS	TPI1	triosephosphate isomerase 1	exonic	NM_001159287	.	synonymous SNV	TPI1:NM_001159287:exon1:c.A69G:p.R23R	ENST00000229270.4	CpG: 89	12p13.31	.	.	.	.	.	rs1800200	.	.	0.282392	0.2629	0.154553	0.0778	0.1107	0.3786	.	0.24038465625	.	.	.	.	.	.	.	.	0.601	0.597	1.744594,14.66	3.4	AC=13;AN=24;BQB=0.958388;DP4=237,39,270,29;DP=763;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.718031;SF=1,3,4,5,10,11,13,14,16,20,22,24;SGB=-0.692562;VDB=0.142408	GT:DP:DV:PL	.	0/1:43:22:255,0,255	.	0/1:47:23:255,0,255	0/1:32:10:229,0,255	0/1:55:31:255,0,255	.	.	.	.	0/1:47:24:255,0,255	0/1:51:26:255,0,255	.	0/1:75:29:255,0,255	0/1:54:26:255,0,255	.	0/1:56:31:255,0,255	.	.	.	0/1:61:31:255,0,255	.	0/1:15:7:194,0,199	.	1/1:39:39:255,117,0	A	G	1	11	Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)	.	Triosephosphate isomerase deficiency(CR962730)	GGCGCTCTATATAAGTGGGCAGTGGCCGCG(A-G)CTGCGCGCAGACACTGACCTTCAGCGCCTC -43 relative to initiation codon(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8571957&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10575546&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10910933&dopt=Abstract)	8571957|10575546|10910933|20374271|18562316|17008404|16097649|11698297|10209987|9763583|9338582|8571957|8503454|8244340|8023140|7667320|7667319|7628118|6825466|6500570|5488105|5343881|4716662|4714420|4097939|4022011|3861565|2925688|2876430|2579079|2243103|1339398|1085604|858628|684558|507849|318158|113220	.	.	INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;ISOMERASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_INOSITOL_PHOSPHATE_METABOLISM	.	BIOCARTA_FEEDER_PATHWAY;BIOCARTA_GLYCOLYSIS_PATHWAY	REACTOME_GLYCOLYSIS;REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	PS1,PS3,BA1
L	12	9242623	rs11609582	A	T	215	PASS	A2M	alpha-2-macroglobulin	splicing	NM_000014	NM_000014:exon21:c.2597-4T>A	.	.	ENST00000318602.7	.	12p13.31	.	.	.	.	.	rs11609582	.	.	0.0365449	0.0456	0.147364	0.1713	0.1415	0.0351	0.0290965153139	0.03004811875	.	.	.	.	.	.	.	.	-3.986	-2.410	.	.	AC=2;AN=4;BQB=0.153355;DP4=25,9,21,11;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961107;SF=12,20;SGB=-0.676189;VDB=0.63143	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:11:241,0,255	.	.	.	.	.	.	.	0/1:45:21:255,0,255	.	.	.	.	A	T	0	2	Alpha-2-macroglobulin deficiency, 614036 (1); {Alzheimer disease, susceptibility to}, 104300 (3)	.	Alzheimer disease, association with(CS033097)	IVS20 as T-A -4|c.2597-4T>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12966032&dopt=Abstract)	12966032|19639019|19380872|18499670|16040006|15023809|12966032|10319855|10319854|10319853|10319845|9811940|9697696|8798779|7544347|7528166|4622731|2581245|2578664|2478422|2475424|2460294|2434923|2415929|2408344|1717945|1379499|1374237|1370808|94459	.	.	INTERLEUKIN_BINDING;GROWTH_FACTOR_BINDING;ENZYME_BINDING;CYTOKINE_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_IL6_7PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_INTRINSIC_PATHWAY;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	12	12301898	rs2302685	C	T	216.92	PASS	LRP6	low density lipoprotein receptor-related protein 6	exonic	NM_002336	.	missense SNV	LRP6:NM_002336:exon14:c.G3184A:p.V1062I	ENST00000543091.1,ENST00000261349.4	.	12p13.2	.	.	.	.	.	rs2302685	.	.	0.923588	0.9196	0.885583	0.8400	0.8474	0.9296	0.923588	0.834134586538	1.0,T	0.0,B	0.0,B	0.998013,P	0.000027,N	-2.195,N	-2.67,D	11.4445	0.901	5.988	2.257520,17.89	5.45	AC=42;AN=48;BQB=0.434501;DP4=57,9,411,31;DP=660;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968257;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692914;VDB=0.0197209	GT:DP:DV:PL	1/1:25:25:255,75,0	1/1:26:26:255,78,0	1/1:21:21:255,63,0	1/1:24:24:255,72,0	1/1:23:23:255,69,0	1/1:28:28:255,84,0	1/1:18:18:255,54,0	.	1/1:23:23:255,69,0	1/1:13:13:255,39,0	1/1:22:22:255,66,0	1/1:7:7:218,21,0	1/1:17:17:255,51,0	1/1:16:16:255,48,0	1/1:18:18:255,54,0	0/1:30:18:238,0,243	0/1:19:12:229,0,159	1/1:21:21:255,63,0	1/1:29:29:255,87,0	1/1:15:15:255,45,0	1/1:14:14:221,42,0	0/1:35:21:255,0,213	0/1:16:9:186,0,189	0/1:24:11:234,0,255	0/1:24:11:229,0,246	C	T	18	6	{Coronary artery disease, autosomal dominant, 2}, 610947 (3); Tooth agenesis, selective, 7, 616724 (3)	.	Fragility fractures, increased risk, association with(CM073185)	ATT-GTT|Ile1062Val|c.3184A>G|p.I1062V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16355283&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17517621&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22393312&dopt=Abstract)	16355283|17517621|22393312|26387593|23703864|23579495|18981475|18772438|17569865|17332414|16890161|16564009|16341017|16126904|15908424|15469977|11357136|11029008|11029007|11029006|10545599|9704021	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	KEGG_WNT_SIGNALING_PATHWAY	PID_BETACATENIN_DEG_PATHWAY;PID_PS1PATHWAY;PID_WNT_SIGNALING_PATHWAY;PID_WNT_CANONICAL_PATHWAY	.	.	PS1,PS3,BA1
L	12	13717508	rs1806201	G	A	222.71	PASS	GRIN2B	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	exonic	NM_000834	.	synonymous SNV	GRIN2B:NM_000834:exon13:c.C2664T:p.T888T	ENST00000609686.1	.	12p13.1	.	.	.	.	.	rs1806201	CLINSIG=not provided|Likely benign;CLNDBN=not_provided|not_specified;CLNACC=RCV000084728.1|RCV000117194.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374	.	0.51495	0.5208	0.303315	0.2178	0.3102	0.5179	0.41194498928	0.445913233173	.	.	.	.	.	.	.	.	-1.427	-1.853	.	.	AC=19;AN=34;BQB=0.839286;DP4=341,294,424,383;DP=1908;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.797523;SF=0,1,2,3,5,6,8,10,11,12,13,14,16,18,20,21,23;SGB=-0.693097;VDB=0.00589606	GT:DP:DV:PL	0/1:64:30:255,0,255	0/1:79:38:255,0,255	0/1:91:50:255,0,255	1/1:87:87:255,255,0	.	0/1:85:39:255,0,255	0/1:87:36:255,0,255	.	0/1:89:35:255,0,255	.	0/1:77:36:255,0,255	0/1:87:47:255,0,255	0/1:70:35:255,0,255	0/1:83:48:255,0,255	0/1:71:35:255,0,255	.	0/1:70:41:255,0,255	.	0/1:82:40:255,0,255	.	1/1:102:102:255,255,0	0/1:131:66:255,0,255	.	0/1:87:42:255,0,255	.	G	A	2	15	Mental retardation, autosomal dominant 6, 613970 (3); Epileptic encephalopathy, early infantile, 27, 616139 (3)	.	Huntington disease, earlier onset in females, association with(CM074898)	ACC-ACT|Thr888Thr|c.2664C>T|p.T888T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17569088&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24292895&dopt=Abstract)	17569088|24292895|24272827|23934111|23160955|23033978|21677647|21677641|21521618|20890276|20724638|20141836|19404260|16537520|16407105|15448254|15448254|15143284|12738868|12399596|11953750|11689882|11459059|10846156|10485705|10456090|10436042|9458051|8789948|8768735|8180471|7959773	GLUTAMATE_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	GLUTAMATE_RECEPTOR_ACTIVITY;IONOTROPIC_GLUTAMATE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_ALZHEIMERS_DISEASE;KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS;KEGG_HUNTINGTONS_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	PID_ERBB4_PATHWAY;PID_REELINPATHWAY	BIOCARTA_NOS1_PATHWAY	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_UNBLOCKING_OF_NMDA_RECEPTOR_GLUTAMATE_BINDING_AND_ACTIVATION;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII	PS1,PS3,BA1
L	12	14018777	rs7301328	G	C	225.75	PASS	GRIN2B	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	exonic	NM_000834	.	synonymous SNV	GRIN2B:NM_000834:exon2:c.C366G:p.P122P	ENST00000609686.1	.	12p13.1	.	.	Score=946;Name=V$GATA2_01	.	.	rs7301328	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000117198.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.495017	0.4931	0.441494	0.4310	0.4172	0.4824	0.396631113323	0.449519572115	.	.	.	.	.	.	.	.	-0.166	2.856	.	.	AC=26;AN=32;BQB=0.268736;DP4=93,33,351,111;DP=764;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0519974;SF=0,2,3,4,5,6,7,10,12,14,15,18,19,20,22,23;SGB=-0.693136;VDB=0.356069	GT:DP:DV:PL	1/1:35:35:255,105,0	.	0/1:33:13:255,0,255	0/1:57:28:255,0,255	0/1:42:25:255,0,255	1/1:40:40:255,120,0	1/1:32:32:255,96,0	1/1:31:31:255,93,0	.	.	0/1:35:18:255,0,255	.	1/1:23:23:255,69,0	.	1/1:35:35:255,105,0	1/1:33:33:255,99,0	.	.	1/1:36:36:255,108,0	0/1:42:19:255,0,255	0/1:43:23:255,0,255	.	1/1:24:24:255,72,0	1/1:47:47:255,141,0	.	G	C	10	6	Mental retardation, autosomal dominant 6, 613970 (3); Epileptic encephalopathy, early infantile, 27, 616139 (3)	.	Schizophrenia, association with(CM014358)	CCC-CCG|Pro122Pro|c.366C>G|p.P122P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11317224&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18583979&dopt=Abstract)	11317224|18583979|24272827|23934111|23160955|23033978|21677647|21677641|21521618|20890276|20724638|20141836|19404260|16537520|16407105|15448254|15448254|15143284|12738868|12399596|11953750|11689882|11459059|10846156|10485705|10456090|10436042|9458051|8789948|8768735|8180471|7959773	GLUTAMATE_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	GLUTAMATE_RECEPTOR_ACTIVITY;IONOTROPIC_GLUTAMATE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_ALZHEIMERS_DISEASE;KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS;KEGG_HUNTINGTONS_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	PID_ERBB4_PATHWAY;PID_REELINPATHWAY	BIOCARTA_NOS1_PATHWAY	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_UNBLOCKING_OF_NMDA_RECEPTOR_GLUTAMATE_BINDING_AND_ACTIVATION;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII	PS1,PS3,BA1
L	12	14993439	rs11276	C	T	187.17	PASS	ART4	ADP-ribosyltransferase 4 (Dombrock blood group)	exonic	NM_021071	.	missense SNV	ART4:NM_021071:exon2:c.G793A:p.D265N	ENST00000228936.4,ENST00000527783.1	.	12p12.3	.	.	.	.	.	rs11276	CLINSIG=other;CLNDBN=Blood_group\x2c_Dombrock_system;CLNACC=RCV000019304.29;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN220464:616060	.	0.0996678	0.0982	0.292732	0.3560	0.3490	0.0960	0.0796324774885	0.0841346449519	1.0,T	0.001,B	0.0,B	0.999993,P	0.010520,N	.	3.22,T	0.5532	-0.052	0.311	.	.	AC=6;AN=12;BQB=0.0889216;DP4=58,12,51,8;DP=175;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.726149;SF=0,3,10,11,20,21;SGB=-0.556411;VDB=0.0922732	GT:DP:DV:PL	0/1:19:4:136,0,255	.	.	0/1:21:9:200,0,255	.	.	.	.	.	.	0/1:22:11:230,0,255	0/1:24:12:255,0,242	.	.	.	.	.	.	.	.	0/1:22:13:255,0,217	0/1:21:10:246,0,255	.	.	.	C	T	0	6	[Blood group, Dombrock], 616060 (3)	.	Dombrock blood group variation(CM003671)	AAC-GAC|Asn265Asp|c.793A>G|p.N265D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11001920&dopt=Abstract)	11001920|12130524|12028057|11724986|11552072|11001920|9119374	.	.	.	.	.	.	.	PS1,PS3,BA1
L	12	15035081	rs4236	T	C	221.86	PASS	MGP	matrix Gla protein	exonic	NM_000900,NM_001190839	.	missense SNV	MGP:NM_000900:exon4:c.A304G:p.T102A,MGP:NM_001190839:exon5:c.A379G:p.T127A	ENST00000228938.5,ENST00000539261.1,ENST00000527783.1	.	12p12.3	.	.	.	.	.	rs4236	.	.	0.129568	0.129	0.385383	0.4373	0.3800	0.1216	0.0987748459418	0.10937491226	1.0,T	0.0,B	0.0,B	1,P	0.329063,N	-0.29,N	1.57,T	5.0532	-0.068	-0.553	.	.	AC=7;AN=14;BQB=0.4187;DP4=107,34,119,39;DP=373;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996835;SF=0,3,4,10,11,20,21;SGB=-0.692831;VDB=0.867446	GT:DP:DV:PL	0/1:45:24:255,0,255	.	.	0/1:41:18:255,0,255	0/1:35:24:255,0,183	.	.	.	.	.	0/1:42:20:255,0,255	0/1:40:24:255,0,242	.	.	.	.	.	.	.	.	0/1:38:19:255,0,255	0/1:58:29:255,0,255	.	.	.	T	C	0	7	Keutel syndrome, 245150 (3)	.	Plaque calcification, increased risk, association with(CM004848)	ACC-GCC|Thr102Ala|c.304A>G|p.T102A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11073842&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23046575&dopt=Abstract)	11073842|23046575|15849363|15810001|12721790|12391016|9916809|9610006|9052783|2394711|1774075	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_ADHESION;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	PID_FRA_PATHWAY	.	.	PS1,PS3,BA1
L	12	21329738	rs2306283	A	G	202.3	PASS	SLCO1B1	solute carrier organic anion transporter family, member 1B1	exonic	NM_006446	.	missense SNV	SLCO1B1:NM_006446:exon5:c.A388G:p.N130D	ENST00000256958.2	.	12p12.1	.	.	.	.	.	rs2306283	.	.	0.792359	0.7619	0.622404	0.5263	0.4795	0.7499	0.590352506891	0.694711560096	0.45,T	0.003,B	0.0,B	1,P	0.189390,N	0.6,N	1.12,T	9.285	-0.797	-0.302	.	.	AC=35;AN=44;BQB=0.352802;DP4=67,13,264,52;DP=550;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.455794;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,23,24;SGB=-0.676189;VDB=0.0732064	GT:DP:DV:PL	0/1:20:11:251,0,197	1/1:13:13:255,39,0	1/1:11:11:244,33,0	1/1:14:14:255,42,0	0/1:27:15:249,0,196	1/1:18:18:255,54,0	1/1:20:20:255,60,0	0/1:14:4:78,0,255	0/1:23:15:238,0,217	1/1:21:21:255,63,0	.	1/1:21:21:255,63,0	0/1:16:8:242,0,185	0/1:11:5:153,0,174	0/1:14:6:206,0,210	1/1:18:18:255,54,0	1/1:16:16:255,48,0	1/1:21:21:255,63,0	1/1:19:19:255,57,0	0/1:14:8:246,0,179	1/1:24:24:255,72,0	.	.	0/1:18:5:134,0,255	1/1:23:23:255,69,0	A	G	13	9	Hyperbilirubinemia, Rotor type, digenic, 237450 (3)	.	Altered transport activity(CM043776)	AAT-GAT|Asn130Asp|c.388A>G|p.N130D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15564882&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21500146&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16255851&dopt=Abstract)	15564882|21500146|16255851|22232210|20660695|18650507|16917677|12670950|12196548|10873595|10644574|10358072	ESTABLISHMENT_OF_LOCALIZATION;ANION_TRANSPORT;TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_RECYCLING_OF_BILE_ACIDS_AND_SALTS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_TRANSPORT_OF_VITAMINS_NUCLEOSIDES_AND_RELATED_MOLECULES;REACTOME_TRANSPORT_OF_ORGANIC_ANIONS	PS1,PS3,BA1
L	12	40713901	rs11564148	T	A	222.31	PASS	LRRK2	leucine-rich repeat kinase 2	exonic	NM_198578	.	missense SNV	LRRK2:NM_198578:exon34:c.T4939A:p.S1647T	ENST00000298910.7	.	12q12	.	.	.	.	.	rs11564148	CLINSIG=Uncertain significance;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNACC=RCV000032475.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1846862:607060	.	0.360465	0.3373	0.285942	0.2577	0.2983	0.3341	0.245023015314	0.294471033654	0.953,T	0.0,B	0.0,B	0.095852,P	0.208778,N	0.39,N	-0.61,T	2.5413	-0.154	0.833	.	.	AC=17;AN=26;BQB=0.549141;DP4=53,45,93,76;DP=371;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.681393;SF=1,3,4,6,8,9,10,11,13,17,19,20,21;SGB=-0.676189;VDB=0.105308	GT:DP:DV:PL	.	0/1:25:11:255,0,255	.	1/1:21:21:255,63,0	0/1:25:11:255,0,255	.	0/1:23:11:255,0,255	.	0/1:19:11:255,0,222	0/1:20:10:255,0,255	1/1:22:22:255,66,0	0/1:21:9:255,0,255	.	1/1:12:12:255,36,0	.	.	.	0/1:18:12:255,0,145	.	1/1:21:21:255,63,0	0/1:14:8:236,0,191	0/1:26:10:255,0,255	.	.	.	T	A	4	9	{Parkinson disease 8}, 607060 (3)	.	Parkinson disease, association with(CM104616)	TCA-ACA|Ser1647Thr|c.4939T>A|p.S1647T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20186690&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20721913&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23842774&dopt=Abstract)	20186690|20721913|23842774|23396536|23075850|22228096|21850687|21115957|20921534|20729864|20671708|20624856|20457952|20186690|20064389|20008657|19915575|19692353|19667187|19640926|19625296|19545277|19308469|19283415|19020907|18981379|18781329|18716801|18704525|18688798|18591067|18412265|18258746|18230735|18214993|18213618|17938369|17659642|17353388|17215492|17200152|17120249|17114044|17060595|17050822|17019612|16966502|16960813|16728648|16633828|16533964|16532471|16436782|16436781|16401756|16352719|16321986|16311269|16269541|16269443|16254973|16240353|16172858|16157909|16157908|16157901|16145815|16003110|15929036|15880653|15852371|15811455|15732108|15726496|15680457|15680456|15680455|15541309|15541308|9276200|8446173|7898705	.	.	.	KEGG_PARKINSONS_DISEASE	.	.	.	PS1,PS3,BA1
L	12	40758652	rs3761863	T	C	136.44	PASS	LRRK2	leucine-rich repeat kinase 2	exonic	NM_198578	.	missense SNV	LRRK2:NM_198578:exon49:c.T7190C:p.M2397T	ENST00000298910.7	.	12q12	.	.	.	.	.	rs3761863	CLINSIG=Uncertain significance;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNACC=RCV000032513.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1846862:607060	.	0.480066	0.4603	0.551717	0.6123	0.6240	0.4731	0.35758024196	0.419470951923	0.466,T	0.0,B	0.0,B	1,P	0.043310,N	1.735,L	-0.53,T	10.427	0.378	0.376	.	3.03	AC=23;AN=36;BQB=0.861511;DP4=60,5,116,15;DP=250;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.861511;MQSB=1;RPB=0.861511;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,17,19,20,21,22;SGB=-0.511536;VDB=0.672523	GT:DP:DV:PL	.	0/1:6:3:100,0,77	0/1:9:3:84,0,197	1/1:18:18:255,54,0	0/1:17:12:238,0,114	0/1:11:7:170,0,128	0/1:11:6:138,0,147	0/1:10:4:125,0,180	0/1:18:10:169,0,131	0/1:5:2:96,0,102	1/1:10:10:246,30,0	1/1:11:11:255,33,0	0/1:8:4:127,0,116	1/1:6:6:214,18,0	.	.	.	0/1:9:6:138,0,101	.	1/1:13:13:255,39,0	0/1:10:4:145,0,164	0/1:18:8:154,0,216	0/1:6:4:114,0,50	.	.	T	C	5	13	{Parkinson disease 8}, 607060 (3)	.	Multiple system atrophy, reduced risk(CM1413562)	ATG-ACG|Met2397Thr|c.7190T>C|p.M2397T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25378673&dopt=Abstract)	25378673|23396536|23075850|22228096|21850687|21115957|20921534|20729864|20671708|20624856|20457952|20186690|20064389|20008657|19915575|19692353|19667187|19640926|19625296|19545277|19308469|19283415|19020907|18981379|18781329|18716801|18704525|18688798|18591067|18412265|18258746|18230735|18214993|18213618|17938369|17659642|17353388|17215492|17200152|17120249|17114044|17060595|17050822|17019612|16966502|16960813|16728648|16633828|16533964|16532471|16436782|16436781|16401756|16352719|16321986|16311269|16269541|16269443|16254973|16240353|16172858|16157909|16157908|16157901|16145815|16003110|15929036|15880653|15852371|15811455|15732108|15726496|15680457|15680456|15680455|15541309|15541308|9276200|8446173|7898705	.	.	.	KEGG_PARKINSONS_DISEASE	.	.	.	PS1,PS3,BA1
L	12	44180295	rs4251545	G	A	210	PASS	IRAK4	interleukin-1 receptor-associated kinase 4	exonic	NM_001114182,NM_001145256,NM_001145257,NM_001145258,NM_016123	.	missense SNV	IRAK4:NM_001145258:exon9:c.G910A:p.A304T,IRAK4:NM_001145257:exon10:c.G910A:p.A304T,IRAK4:NM_001145256:exon11:c.G910A:p.A304T,IRAK4:NM_016123:exon11:c.G1282A:p.A428T,IRAK4:NM_001114182:exon12:c.G1282A:p.A428T	ENST00000440781.2,ENST00000431837.1,ENST00000448290.2,ENST00000551736.1	.	12q12	.	.	.	.	.	rs4251545	.	.	0.124585	0.127	0.170527	0.1575	0.1155	0.1097	0.0949465460949	0.103365592548	0.61,T	0.001,B	0.0,B	0.999988,P	0.143300,N	1.165,L	-0.13,T	7.4103	-0.274	0.757	.	.	AC=9;AN=14;BQB=0.850431;DP4=75,19,125,25;DP=339;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.905266;SF=7,8,9,13,20,23,24;SGB=-0.683931;VDB=0.739426	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:38:13:255,0,255	0/1:32:17:255,0,255	1/1:32:32:255,96,0	.	.	.	0/1:27:17:255,0,214	.	.	.	.	.	.	0/1:22:7:168,0,255	.	.	0/1:42:14:247,0,255	1/1:51:50:255,94,0	G	A	2	5	IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)	.	Gram-positive infection, increased risk(CM116927)	GCT-ACT|Ala428Thr|c.1282G>A|p.A428T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21576904&dopt=Abstract)	21576904|20485341|19414794|17893200|17878374|17114497|16950813|16574867|16286015|15069404|12925671|12637671|11960013|11923871|10508479|9789052	.	.	.	KEGG_APOPTOSIS;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_LEISHMANIA_INFECTION	PID_IL1PATHWAY;PID_TOLL_ENDOGENOUS_PATHWAY	.	REACTOME_SIGNALING_BY_ILS;REACTOME_IL1_SIGNALING;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION_IN_TLR7_8_OR_9_SIGNALING;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	12	48272895	rs2228570	A	G	199.55	PASS	VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor	exonic	NM_000376,NM_001017535,NM_001017536	.	missense SNV	VDR:NM_000376:exon3:c.T2C:p.M1T,VDR:NM_001017536:exon3:c.T152C:p.M51T,VDR:NM_001017535:exon4:c.T2C:p.M1T	ENST00000229022.3,ENST00000549336.1,ENST00000535672.1,ENST00000395324.2,ENST00000550325.1	.	12q13.11	.	.	Score=734;Name=V$MYOGNF1_01	.	.	rs2228570	.	.	0.559801	0.5823	0.671526	0.6732	0.6376	0.5448	0.559801	0.500000170673	0.0,D	0.848,P	0.993,D	9.74163e-25,P	0.000031,D	.	-2.88,D	9.9501	0.944	4.300	3.383802,23.0	2.89	AC=27;AN=40;BQB=0.865341;DP4=53,94,98,176;DP=565;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.543691;SF=2,3,4,5,6,7,10,11,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.689466;VDB=0.0231221	GT:DP:DV:PL	.	.	0/1:25:16:255,0,255	0/1:15:6:153,0,231	1/1:13:13:255,39,0	0/1:39:24:255,0,255	0/1:14:7:187,0,166	1/1:25:25:255,75,0	.	.	0/1:26:12:255,0,255	0/1:18:11:255,0,115	0/1:23:13:255,0,255	0/1:24:11:255,0,255	0/1:16:7:201,0,253	1/1:14:14:255,42,0	1/1:27:27:255,81,0	0/1:15:6:112,0,255	1/1:16:16:255,48,0	0/1:18:8:131,0,235	1/1:18:18:255,54,0	.	1/1:13:13:255,39,0	0/1:26:12:255,0,255	0/1:36:15:255,0,255	A	G	7	13	Rickets, vitamin D-resistant, type IIA, 277440 (3); ?Osteoporosis, involutional, 166710 (1)	.	Higher bone mineral density, association with(CM972826)	ATG-ACG|Met1Thr|c.2T>C|p.M1T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9169350&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21283672&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21814771&dopt=Abstract)	9169350|21283672|21814771|22464333|19136944|18495944|18364394|17970811|17426122|17099775|17071612|16908916|16543149|16497887|16476050|16252240|16210379|16203744|15976027|15886235|15769857|15744036|15478069|15322538|15322208|15315818|15175274|15032981|12915669|12843155|12840015|12837248|12716975|12193585|12016314|11564167|11204438|11134121|10770213|10707958|10491209|10372708|10323401|10210992|9886274|9661591|9506753|9495519|9360557|9284728|9241280|9218501|9212063|9211684|9211676|9177380|9070272|9005998|8961271|8862631|8725180|8703580|8675579|8530619|8392085|8161378|8001964|7962559|3624485|3024987|2849209|2835767|2564666|2558018|2557627|2177843|2174914|2005205|1662663|1652893|1353882	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	.	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY	.	PID_SMAD2_3NUCLEARPATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_RXR_VDR_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_DELTANP63PATHWAY;PID_TAP63PATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
L	12	48526712	rs2228500	G	A	222.38	PASS	PFKM	phosphofructokinase, muscle	exonic	NM_000289,NM_001166686,NM_001166687,NM_001166688	.	missense SNV	PFKM:NM_001166688:exon4:c.G299A:p.R100Q,PFKM:NM_000289:exon5:c.G299A:p.R100Q,PFKM:NM_001166687:exon5:c.G299A:p.R100Q,PFKM:NM_001166686:exon7:c.G512A:p.R171Q	ENST00000551804.1,ENST00000312352.7,ENST00000395233.2,ENST00000359794.5,ENST00000547587.1,ENST00000340802.6	.	12q13.11	.	.	.	.	.	rs2228500	.	.	0.202658	0.1935	0.147764	0.1719	0.1778	0.2546	0.197549957121	0.197115608173	0.163,T	0.004,B	0.052,B	0.102468,P	0.005511,N	0.465,N	-1.38,T	6.7518	0.413	1.054	3.119091,22.6	.	AC=14;AN=26;BQB=0.753712;DP4=270,132,306,172;DP=1202;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.868591;SF=0,1,2,3,5,7,10,13,15,17,18,20,22;SGB=-0.693132;VDB=0.551901	GT:DP:DV:PL	0/1:73:34:255,0,255	0/1:73:44:255,0,255	0/1:73:39:255,0,255	0/1:61:32:255,0,255	.	0/1:90:45:255,0,255	.	0/1:81:47:255,0,255	.	.	0/1:54:25:255,0,255	.	.	0/1:71:40:255,0,255	.	0/1:60:20:255,0,255	.	0/1:53:26:255,0,255	1/1:69:69:255,208,0	.	0/1:87:41:255,0,255	.	0/1:35:16:255,0,255	.	.	G	A	1	12	Glycogen storage disease VII, 232800 (3)	.	Glycogen storage disease 7(CM950928)	CGA-CAA|Arg100Gln|c.299G>A|p.R100Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7825568&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	7825568|20981092|25985179|22923583|14339001|9443500|9389749|8889589|8880699|8661033|8444874|8037209|7550225|7513946|7479776|6444721|6213050|4241008|4228297|2822475|2140573|2137340|1833270	GLUCOSE_METABOLIC_PROCESS;GLUCOSE_CATABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_CATABOLIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;CATABOLIC_PROCESS;CARBOHYDRATE_CATABOLIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;CYTOSOLIC_PART;CYTOSOL;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;CARBOHYDRATE_KINASE_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_GALACTOSE_METABOLISM	PID_MYC_ACTIVPATHWAY	BIOCARTA_PTDINS_PATHWAY	REACTOME_GLYCOLYSIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	PS1,PS3,BA1
L	12	49434074	rs10747559	C	A	221.7	PASS	KMT2D	lysine (K)-specific methyltransferase 2D	exonic	NM_003482	.	synonymous SNV	KMT2D:NM_003482:exon31:c.G7479T:p.G2493G	ENST00000301067.7	.	12q13.12	.	.	.	.	.	rs10747559	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000080211.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.436877	0.4514	0.435503	0.4165	0.4197	0.4376	0.337672295559	0.381009668269	.	.	.	.	.	.	.	.	-0.307	-0.014	.	.	AC=23;AN=40;BQB=0.89689;DP4=328,211,478,281;DP=1668;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977848;SF=2,3,4,5,6,7,8,9,10,11,14,15,16,17,19,20,21,22,23,24;SGB=-0.693146;VDB=0.410463	GT:DP:DV:PL	.	.	0/1:86:42:255,0,255	1/1:68:68:255,205,0	1/1:62:62:255,187,0	0/1:55:36:255,0,255	1/1:82:82:255,247,0	0/1:58:34:255,0,255	0/1:59:25:255,0,255	0/1:43:19:255,0,255	0/1:70:36:255,0,255	0/1:61:31:255,0,255	.	.	0/1:74:36:255,0,255	0/1:71:41:255,0,255	0/1:63:36:255,0,255	0/1:50:24:255,0,255	.	0/1:72:38:255,0,255	0/1:81:38:255,0,255	0/1:89:40:255,0,255	0/1:27:10:231,0,255	0/1:77:34:255,0,255	0/1:50:27:255,0,255	C	A	3	17	Kabuki syndrome 1, 147920 (3)	.	Kabuki syndrome(CD1312975)	GGGCT^2492GGGGGgTTCCCAGCAG|c.7479delG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23320472&dopt=Abstract)	23320472|26331536|24633898|23913813|22126750|21796119|21671394|21607748|21163964|20711175|12473749|11782551|9247308	.	.	.	.	.	.	.	PS1,PS3,BA1
L	12	50344976	rs3741559	G	A	222.73	PASS	AQP2	aquaporin 2 (collecting duct)	splicing	NM_000486	NM_000486:exon1:c.360+3G>A	.	.	ENST00000199280.3	.	12q13.12	.	.	.	.	.	rs3741559	.	.	0.328904	0.3234	0.210863	0.1524	0.2218	0.3864	0.261102762634	0.320913711538	.	.	.	.	.	.	.	.	0.158	1.905	.	.	AC=17;AN=30;BQB=0.593119;DP4=149,150,156,186;DP=852;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982488;SF=0,1,2,5,6,10,11,14,16,18,19,20,21,23,24;SGB=-0.692352;VDB=0.831349	GT:DP:DV:PL	0/1:44:21:255,0,255	0/1:33:21:255,0,255	0/1:43:27:255,0,255	.	.	0/1:59:25:255,0,255	0/1:45:21:255,0,255	.	.	.	0/1:35:25:255,0,212	1/1:30:30:255,90,0	.	.	1/1:28:28:255,84,0	.	0/1:38:14:255,0,255	.	0/1:38:20:255,0,255	0/1:39:17:255,0,255	0/1:41:20:255,0,255	0/1:73:33:255,0,255	.	0/1:51:22:255,0,255	0/1:44:18:255,0,255	G	A	2	13	Diabetes insipidus, nephrogenic, 125800 (3)	.	Diabetes insipidus, nephrogenic(CS106948)	IVS1 ds G-A +3|c.360+3G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20814834&dopt=Abstract)	20814834|16845277|16641094|16581908|15509592|12050236|11929850|11536078|11297601|11067864|11035038|10372737|9745427|9649557|9302264|9177390|9048343|8429910|8140421|7537863|7537761|7532304|7524315|7512890|7510718	ESTABLISHMENT_OF_LOCALIZATION;EXCRETION;TRANSPORT;SECRETION;SYSTEM_PROCESS	MEMBRANE_PART;MEMBRANE;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_PASSIVE_TRANSPORT_BY_AQUAPORINS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS	PS1,PS3,BA1
L	12	50348078	rs426496	T	C	224.61	PASS	AQP2	aquaporin 2 (collecting duct)	exonic	NM_000486	.	synonymous SNV	AQP2:NM_000486:exon2:c.T501C:p.S167S	ENST00000552379.1,ENST00000550530.1,ENST00000199280.3	.	12q13.12	.	.	Score=787;Name=V$CDPCR3_01	.	.	rs426496	.	.	0.674419	0.6796	0.667133	0.6933	0.7593	0.6330	0.512251575804	0.581730935096	.	.	.	.	.	.	.	.	-1.572	-4.277	.	.	AC=33;AN=46;BQB=0.83547;DP4=433,93,1072,251;DP=2433;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961435;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.628865	GT:DP:DV:PL	0/1:80:44:255,0,255	0/1:68:43:255,0,255	0/1:77:47:255,0,255	1/1:66:66:255,199,0	1/1:66:66:255,199,0	0/1:138:68:255,0,255	0/1:83:53:255,0,255	1/1:74:74:255,223,0	1/1:70:70:255,211,0	1/1:72:72:255,217,0	0/1:78:39:255,0,255	.	1/1:58:58:255,175,0	1/1:106:106:255,255,0	.	1/1:81:81:255,244,0	0/1:81:47:255,0,255	1/1:54:54:255,163,0	0/1:72:40:255,0,255	0/1:77:42:255,0,255	0/1:83:45:255,0,255	0/1:128:65:255,0,255	1/1:38:38:255,114,0	0/1:103:49:255,0,255	0/1:96:56:255,0,255	T	C	10	13	Diabetes insipidus, nephrogenic, 125800 (3)	.	Diabetes insipidus, nephrogenic(CI156810)	AGGCTTC^167TCTcGTGGCCCTGG|c.501_502insC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=26064258&dopt=Abstract)	26064258|16845277|16641094|16581908|15509592|12050236|11929850|11536078|11297601|11067864|11035038|10372737|9745427|9649557|9302264|9177390|9048343|8429910|8140421|7537863|7537761|7532304|7524315|7512890|7510718	ESTABLISHMENT_OF_LOCALIZATION;EXCRETION;TRANSPORT;SECRETION;SYSTEM_PROCESS	MEMBRANE_PART;MEMBRANE;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_PASSIVE_TRANSPORT_BY_AQUAPORINS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS	PS1,PS3,BA1
L	12	52685096	rs2071588	C	G	142.35	PASS	KRT81	keratin 81, type II	exonic	NM_002281	.	missense SNV	KRT81:NM_002281:exon1:c.G154C:p.G52R	ENST00000544024.1,ENST00000423955.2,ENST00000327741.5	CpG: 34	12q13.13	.	.	.	Score=0.975868;Name=chr12:52695720	.	rs2071588	.	.	0.428571	0.4216	0.278754	.	0.3856	0.5114	0.428571	0.354567117788	0.004,D	0.928,D	0.99,D	7.70963e-31,P	0.003435,U	2.44,M	-3.22,D	9.9564	2.399	4.601	5.140917,25.4	5.17	AC=19;AN=34;BQB=0.825812;DP4=226,11,292,10;DP=609;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.79328;MQSB=1;RPB=0.957737;SF=0,1,3,4,5,6,7,9,10,11,12,15,16,19,20,22,24;SGB=-0.693132;VDB=0.00912681	GT:DP:DV:PL	1/1:34:34:255,102,0	0/1:37:22:167,0,180	.	1/1:31:31:244,93,0	0/1:34:19:169,0,153	0/1:34:13:132,0,217	0/1:32:19:192,0,164	0/1:33:13:171,0,224	.	0/1:24:12:149,0,166	0/1:34:16:158,0,174	0/1:30:15:157,0,183	0/1:34:18:237,0,179	.	.	0/1:27:9:128,0,163	0/1:29:18:167,0,135	.	.	0/1:39:17:154,0,192	0/1:31:20:185,0,151	.	0/1:18:8:147,0,171	.	0/1:38:18:158,0,228	C	G	2	15	Monilethrix, 158000 (3)	.	Monilethrix(CM124731)	GGA-CGA|Gly52Arg|c.154G>C|p.G52R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22628999&dopt=Abstract)	22628999|9665406|9457912|9402962|9084137|7556444	.	.	.	.	.	.	.	PS1,PS3,BA1
L	12	52827818	rs298109	T	C	225.5	PASS	KRT75	keratin 75, type II	exonic	NM_004693	.	missense SNV	KRT75:NM_004693:exon1:c.A271G:p.R91G	ENST00000252245.5	.	12q13.13	.	.	.	.	.	rs298109	.	.	0.681063	0.6825	0.612819	0.6051	0.5913	0.6957	0.549770234303	0.627403889423	1.0,T	0.0,B	0.0,B	0.999998,P	0.001302,N	-2.215,N	-0.89,T	11.6068	0.313	0.973	.	3.77	AC=38;AN=48;BQB=0.920586;DP4=199,185,970,674;DP=2677;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.955024;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693132;VDB=0.601395	GT:DP:DV:PL	0/1:63:34:255,0,255	0/1:72:32:255,0,255	0/1:86:39:255,0,255	1/1:85:85:255,255,0	.	1/1:152:152:255,255,0	0/1:84:43:255,0,255	0/1:90:56:255,0,255	0/1:60:31:255,0,255	1/1:53:53:255,160,0	0/1:85:33:255,0,255	1/1:84:84:255,253,0	1/1:78:78:255,235,0	1/1:107:107:255,255,0	1/1:72:72:255,217,0	0/1:76:38:255,0,255	1/1:65:65:255,196,0	1/1:68:68:255,205,0	1/1:70:70:255,211,0	1/1:89:88:255,231,0	1/1:77:77:255,232,0	1/1:144:144:255,255,0	0/1:42:20:255,0,255	1/1:127:127:255,255,0	0/1:99:48:255,0,255	T	C	14	10	{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)	.	Respiratory disease, aspirin-exacerbated, reduced risk(CM131325)	AGG-GGG|Arg91Gly|c.271A>G|p.R91G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23180272&dopt=Abstract)	23180272|15086549|11489919|10692104|9856802	.	.	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	12	52912909	rs641615	G	T	222.86	PASS	KRT5	keratin 5, type II	exonic	NM_000424	.	missense SNV	KRT5:NM_000424:exon2:c.C591A:p.D197E	ENST00000252242.4	.	12q13.13	.	.	Score=708;Name=V$PPARG_02	.	.	rs641615	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000056634.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.305648	0.3393	0.215056	.	0.2412	0.3328	0.231240698315	0.288461581731	1.0,T	0.012,B	0.03,B	0.942634,P	0.000015,D	-1.88,N	-0.64,T	7.4373	0.792	0.484	.	2.41	AC=16;AN=28;BQB=0.198446;DP4=349,275,419,334;DP=1925;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.0424661;MQSB=0.977447;RPB=0.900036;SF=1,3,5,6,7,11,12,14,16,18,19,20,23,24;SGB=-0.693127;VDB=0.643895	GT:DP:DV:PL	.	0/1:75:33:255,0,255	.	0/1:92:42:255,0,255	.	0/1:146:63:255,0,255	0/1:74:40:255,0,255	0/1:101:44:255,0,255	.	.	.	0/1:94:38:255,0,255	0/1:67:29:255,0,255	.	0/1:93:46:255,0,255	.	0/1:102:48:255,0,255	.	0/1:76:35:255,0,255	1/1:108:107:255,255,0	0/1:90:41:255,0,255	.	.	1/1:136:134:255,255,0	0/1:123:53:255,0,255	G	T	2	12	Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3); Epidermolysis bullosa simplex-MP, 131960 (3); Dowling-Degos disease 1, 179850 (3); Epidermylysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3)	.	Basal cell carcinoma, reduced risk, association with(CM094566)	GAC-GAA|Asp197Glu|c.591C>A|p.D197E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19578363&dopt=Abstract)	19578363|20929848|20923750|20222933|19267394|16465624|16098032|15324323|14674915|12925204|12648226|11973334|11408584|11407989|11167681|10730767|10494094|10383750|10234505|9740251|9129237|8807337|8799157|8757772|7688477|7686424|7537780|7534039|7520042|2476664|2456903|2447486|1720261|1718160|1713141|1690428|1689954|1377166|1372711	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	PID_REG_GR_PATHWAY;PID_DELTANP63PATHWAY	.	.	PS1,PS3,BA1
L	12	56089357	rs1800974	C	T	220.6	PASS	ITGA7	integrin, alpha 7	exonic	NM_001144996,NM_001144997,NM_002206	.	missense SNV	ITGA7:NM_001144996:exon14:c.G1964A:p.R655H,ITGA7:NM_001144997:exon14:c.G1673A:p.R558H,ITGA7:NM_002206:exon14:c.G1952A:p.R651H	ENST00000553804.1,ENST00000257879.6,ENST00000452168.2,ENST00000257880.7,ENST00000555728.1,ENST00000347027.6,ENST00000394229.2,ENST00000394230.2	.	12q13.2	.	.	.	.	.	rs1800974	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000079979.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.923588	0.9306	0.599441	0.4513	0.5854	0.9394	0.736600532925	0.830528949519	0.192,T	0.002,B	0.001,B	1,P	0.572722,N	0.345,N	0.84,T	9.2195	-0.033	0.204	2.354567,18.52	.	AC=45;AN=50;BQB=0.550519;DP4=66,20,454,227;DP=1032;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.174694;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692067;VDB=0.279301	GT:DP:DV:PL	1/1:20:20:255,60,0	1/1:28:28:255,84,0	1/1:35:35:255,105,0	1/1:43:43:255,129,0	1/1:33:33:255,99,0	1/1:38:38:255,111,0	1/1:28:28:255,84,0	1/1:29:29:255,87,0	0/1:22:7:161,0,255	0/1:19:11:255,0,190	0/1:30:10:226,0,255	1/1:27:27:255,81,0	1/1:23:23:255,69,0	0/1:34:13:224,0,255	1/1:29:29:255,87,0	1/1:24:24:255,72,0	1/1:37:37:255,111,0	1/1:27:27:255,81,0	1/1:23:23:255,66,0	0/1:47:25:255,0,255	1/1:35:35:255,102,0	1/1:40:40:255,120,0	1/1:18:18:255,54,0	1/1:44:44:255,132,0	1/1:34:34:255,102,0	C	T	20	5	Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)	.	Lung cancer, susceptibility to, association with(CM067685)	CGC-CAC|Arg651His|c.1952G>A|p.R651H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16741161&dopt=Abstract)	16741161|16476707|12588796|9590299|9354797	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_SUBSTRATE_ADHESION;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;ORGAN_DEVELOPMENT	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN_CS_PATHWAY;PID_ARF6_TRAFFICKINGPATHWAY;PID_CXCR4_PATHWAY	.	.	PS1,PS3,BA1
L	12	72372862	rs7305115	A	G	222.05	PASS	TPH2	tryptophan hydroxylase 2	exonic	NM_173353	.	synonymous SNV	TPH2:NM_173353:exon7:c.A936G:p.P312P	ENST00000333850.3	.	12q21.1	.	.	.	.	.	rs7305115	.	.	0.433555	0.4494	0.541733	0.5819	0.5647	0.4751	0.373660016845	0.403846298077	.	.	.	.	.	.	.	.	-3.578	-3.880	.	.	AC=24;AN=38;BQB=0.88901;DP4=196,183,274,239;DP=1230;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.862796;SF=0,1,2,4,5,8,9,10,11,13,14,15,17,18,19,20,21,22,24;SGB=-0.692914;VDB=0.0602915	GT:DP:DV:PL	0/1:50:25:255,0,255	0/1:45:33:255,0,232	1/1:38:38:255,114,0	.	0/1:47:19:255,0,255	1/1:52:52:255,157,0	.	.	0/1:46:22:255,0,255	0/1:40:15:255,0,255	0/1:37:13:255,0,255	0/1:45:17:255,0,255	.	0/1:55:31:255,0,255	1/1:49:49:255,148,0	0/1:41:14:255,0,255	.	1/1:30:30:255,90,0	0/1:60:30:255,0,255	0/1:57:19:255,0,255	1/1:42:42:255,126,0	0/1:67:29:255,0,255	0/1:22:8:228,0,255	.	0/1:69:27:255,0,255	A	G	5	14	{Unipolar depression, susceptibility to}, 608516 (3); {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)	.	Increased mRNA expression(CM077900)	CCG-CCA|Pro312Pro|c.936G>A|p.P312P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17453063&dopt=Abstract)	17453063|21441904|19520831|19319927|18347598|18212115|17905754|16116490|16044172|16027738|15820718|15629698|15247473|12511643	.	.	.	KEGG_TRYPTOPHAN_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	12	72416235	rs4290270	A	T	223.06	PASS	TPH2	tryptophan hydroxylase 2	exonic	NM_173353	.	synonymous SNV	TPH2:NM_173353:exon9:c.A1125T:p.A375A	ENST00000333850.3	.	12q21.1	.	.	Score=838;Name=V$AP4_01	.	.	rs4290270	.	.	0.440199	0.4663	0.48722	0.5662	0.5732	0.4860	0.378254007657	0.409855586538	.	.	.	.	.	.	.	.	-1.671	-0.957	.	.	AC=20;AN=34;BQB=0.617844;DP4=182,102,280,157;DP=992;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.888972;SF=0,1,2,3,4,5,6,9,14,15,16,18,19,20,21,22,24;SGB=-0.692914;VDB=0.460957	GT:DP:DV:PL	0/1:46:25:255,0,255	0/1:44:21:255,0,255	1/1:34:34:255,102,0	0/1:47:28:255,0,255	1/1:38:38:255,114,0	0/1:50:32:255,0,255	0/1:35:18:255,0,255	.	.	0/1:39:20:255,0,255	.	.	.	.	0/1:31:17:255,0,255	0/1:38:22:255,0,255	0/1:53:27:255,0,255	.	0/1:38:21:255,0,255	0/1:32:14:255,0,255	1/1:43:43:255,129,0	0/1:62:28:255,0,255	0/1:18:9:255,0,255	.	0/1:73:40:255,0,255	A	T	3	14	{Unipolar depression, susceptibility to}, 608516 (3); {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)	.	Suicide, association with(CM100837)	GCT-GCA|Ala375Ala|c.1125T>A|p.A375A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20126463&dopt=Abstract)	20126463|21441904|19520831|19319927|18347598|18212115|17905754|16116490|16044172|16027738|15820718|15629698|15247473|12511643	.	.	.	KEGG_TRYPTOPHAN_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	PS1,PS3,BA1
L	12	96384249	rs36014288	T	C	221.93	PASS	HAL	histidine ammonia-lyase	exonic	NM_001258333,NM_001258334,NM_002108	.	synonymous SNV	HAL:NM_001258333:exon9:c.A153G:p.P51P,HAL:NM_001258334:exon10:c.A777G:p.P259P,HAL:NM_002108:exon10:c.A777G:p.P259P	ENST00000538703.1,ENST00000551562.1,ENST00000261208.3,ENST00000541929.1	.	12q23.1	.	.	Score=956;Name=V$CEBPB_01	.	.	rs36014288	.	.	0.387043	0.3661	0.192692	0.1144	0.1462	0.3553	0.291730240429	0.344951894231	.	.	.	.	.	.	.	.	0.071	-1.126	.	.	AC=18;AN=30;BQB=0.999822;DP4=160,112,197,140;DP=832;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999822;SF=0,2,4,5,6,9,12,13,14,16,17,18,19,20,23;SGB=-0.693145;VDB=5.43149e-07	GT:DP:DV:PL	1/1:40:40:255,120,0	.	0/1:51:27:255,0,255	.	0/1:42:14:238,0,255	0/1:47:19:255,0,255	0/1:43:17:255,0,255	.	.	0/1:38:21:255,0,255	.	.	0/1:35:13:255,0,255	0/1:49:23:255,0,255	1/1:41:41:255,123,0	.	0/1:36:16:255,0,255	0/1:31:14:255,0,255	0/1:29:15:255,0,255	1/1:49:47:255,50,0	0/1:36:11:255,0,255	.	.	0/1:42:19:255,0,255	.	T	C	3	12	[Histidinemia], 235800 (3)	.	Histidinaemia(CP052802)	GACCTT^258GCCCcaCTCTCTCATC Ins: tg|c.776_777delCAinsTG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15806399&dopt=Abstract)	15806399|15806399|8530107|8486363|7916645|4583487|2055114	.	.	.	KEGG_HISTIDINE_METABOLISM;KEGG_NITROGEN_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	12	102158763	rs10778148	T	C	227	PASS	GNPTAB	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	exonic	NM_024312	.	synonymous SNV	GNPTAB:NM_024312:exon13:c.A1932G:p.T644T	ENST00000299314.7	.	12q23.2	.	.	.	.	.	rs10778148	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000082189.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.910299	0.8978	0.651358	0.5625	0.5885	0.9014	0.700612653905	0.807692185096	.	.	.	.	.	.	.	.	-3.595	-3.402	.	.	AC=46;AN=50;BQB=0.634616;DP4=60,32,509,216;DP=1095;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.114364;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693136;VDB=0.954441	GT:DP:DV:PL	1/1:35:35:255,105,0	1/1:29:29:255,87,0	0/1:32:12:255,0,255	0/1:42:21:255,0,255	1/1:41:41:255,123,0	0/1:35:15:255,0,255	1/1:29:29:255,87,0	1/1:47:47:255,141,0	1/1:40:40:255,120,0	1/1:14:14:255,42,0	1/1:28:28:255,84,0	1/1:22:22:255,66,0	1/1:37:37:255,111,0	1/1:22:22:255,66,0	1/1:20:20:255,60,0	1/1:41:41:255,123,0	1/1:46:46:255,138,0	1/1:21:21:255,63,0	0/1:44:13:255,0,255	1/1:27:27:255,81,0	1/1:27:27:255,81,0	1/1:40:40:255,120,0	1/1:23:23:255,69,0	1/1:33:33:255,99,0	1/1:42:42:255,126,0	T	C	21	4	Mucolipidosis III alpha/beta, 252600 (3); Mucolipidosis II alpha/beta, 252500 (3)	.	Mucolipidosis IIIA/B(CX154670)	CTGAAT^643TCTAcaGCCCAGAAGG Ins: tg|c.1931_1932delCAinsTG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25788519&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25788519&dopt=Abstract)	25788519|21719679|20944643|20880125|20147709|19659762|19617216|19197337|18190596|16630736|16465621|16200072|16120602|16116615|16094673|15633164|8940156|8940155	.	.	.	KEGG_LYSOSOME	.	.	.	PS1,PS3,BA1
L	12	103246700	rs1042503	C	T	226.08	PASS	PAH	phenylalanine hydroxylase	exonic	NM_000277	.	synonymous SNV	PAH:NM_000277:exon7:c.G735A:p.V245V	ENST00000307000.2,ENST00000553106.1	.	12q23.2	.	.	.	.	.	rs1042503	CLINSIG=Benign|not provided;CLNDBN=not_specified|not_provided;CLNACC=RCV000078529.4|RCV000089066.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.770764	0.7629	0.314896	0.1815	0.2906	0.7541	0.59418074732	0.695913375	.	.	.	.	.	.	.	.	0.325	-0.274	1.909390,15.65	2.95	AC=42;AN=50;BQB=0.340521;DP4=122,97,622,420;DP=1699;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.952683;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692976;VDB=0.224661	GT:DP:DV:PL	0/1:53:26:255,0,255	1/1:51:51:255,154,0	0/1:51:20:255,0,255	1/1:60:60:255,181,0	1/1:45:45:255,135,0	0/1:65:31:255,0,255	1/1:44:44:255,132,0	1/1:56:56:255,169,0	1/1:48:48:255,144,0	1/1:41:41:255,123,0	1/1:49:49:255,148,0	1/1:48:48:255,144,0	0/1:33:14:255,0,255	0/1:53:19:255,0,255	1/1:47:46:255,93,0	1/1:57:57:255,172,0	0/1:65:38:255,0,255	1/1:33:33:255,99,0	0/1:48:24:255,0,255	1/1:52:52:255,157,0	1/1:68:68:255,205,0	0/1:55:33:255,0,255	1/1:29:29:255,87,0	1/1:54:54:255,163,0	1/1:56:56:255,169,0	C	T	17	8	Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild], 261600 (3)	.	Phenylketonuria(CX056901)	ACTGGT^240TTCCgcctccgacctgtgGCTGGCCTGC Ins: cctccgacctgta|c.722_735delins14(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16256386&dopt=Abstract)	16256386|20179079|18538294|17935162|17924342|17630668|17443661|16879198|15459954|12655548|12501224|12501224|11999982|11935335|11405341|11326337|11214902|11005872|10720436|10479481|10472529|10444341|10429004|10077654|9950317|9860305|9634518|9450182|9119379|9101291|9016524|8990013|8829656|8807331|8594560|8487271|8445621|8401510|8370573|8364546|8116675|8098245|8097261|8095248|8088845|7981714|7860062|7807961|7668259|7581408|6547271|5456147|4257648|3862128|3856322|3615198|3455778|3093157|3018584|3008810|2986678|2884570|2878116|2840952|2816939|2606484|2574002|2573272|2565120|2564729|2323773|2309142|2308957|2246858|2071149|2063869|2044609|2035532|2014802|2006152|1998345|1997387|1978553|1975791|1975559|1975096|1971147|1971144|1968617|1967207|1915502|1769645|1709636|1682495|1682235|1682234|1679030|1679029|1672294|1672290|1671881|1671810|1671770|1671768|1639423|1609797|1601425|1363838|1363837|1363786|1360590|1359872|1358789|1358783|1355066|1349576|1321825|1312992|1301947|1301202|1301201|1301200|1301193|1301187|1153238	BIOSYNTHETIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_BIOSYNTHETIC_PROCESS;AMINE_METABOLIC_PROCESS;NITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_PHENYLALANINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	12	111353556	rs2301610	A	G	222.86	PASS	MYL2	myosin, light chain 2, regulatory, cardiac, slow	exonic	NM_000432	.	synonymous SNV	MYL2:NM_000432:exon3:c.T132C:p.I44I	ENST00000228841.8,ENST00000548438.1	.	12q24.11	.	.	.	.	.	rs2301610	CLINSIG=not provided|Benign|Benign;CLNDBN=not_provided|not_specified|Cardiomyopathy;CLNACC=RCV000024462.3|RCV000036380.2|RCV000157715.1;CLNDSDB=MedGen|MedGen|Human_Phenotype_Ontology:MedGen;CLNDSDBID=CN221809|CN169374|HP:0001638:CN001491	.	0.214286	0.2024	0.115216	0.0764	0.1025	0.2256	0.172282104135	0.185096456731	.	.	.	.	.	.	.	.	-0.352	-0.859	0.906455,10.11	.	AC=8;AN=14;BQB=0.999428;DP4=130,75,147,97;DP=616;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9869;SF=1,5,8,9,10,13,20;SGB=-0.693054;VDB=0.172289	GT:DP:DV:PL	.	0/1:64:28:255,0,255	.	.	.	0/1:81:40:255,0,255	.	.	1/1:58:58:255,175,0	0/1:50:23:255,0,255	0/1:63:31:255,0,255	.	.	0/1:67:26:255,0,255	.	.	.	.	.	.	0/1:66:38:255,0,255	.	.	.	.	A	G	1	6	Cardiomyopathy, hypertrophic, 10, 608758 (3)	.	Cardiomyopathy, hypertrophic(CM122404)	ATT-ATG|Ile44Met|c.132T>G|p.I44M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22429680&dopt=Abstract)	22429680|16076902|15829506|12404107|11733062|11102452|9535554|8673105|2704627|1386340	REGULATION_OF_MUSCLE_CONTRACTION;STRIATED_MUSCLE_CONTRACTION_GO_0006941;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_FOCAL_ADHESION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_DILATED_CARDIOMYOPATHY	PID_RHOA_PATHWAY;PID_CDC42_PATHWAY;PID_THROMBIN_PAR4_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_THROMBIN_PAR1_PATHWAY;PID_NCADHERINPATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_CCR3_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_RAC1_PATHWAY;BIOCARTA_RHO_PATHWAY	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	PS1,PS3,BA1
L	12	111884608	rs3184504	T	C	228	PASS	SH2B3	SH2B adaptor protein 3	exonic	NM_001291424,NM_005475	.	missense SNV	SH2B3:NM_001291424:exon2:c.T178C:p.W60R,SH2B3:NM_005475:exon3:c.T784C:p.W262R	ENST00000538307.1,ENST00000341259.2	.	12q24.12	.	.	.	.	.	rs3184504	.	Eosinophil counts,Rheumatoid arthritis,Coronary artery disease,Blood metabolite levels,Diastolic blood pressure,Coronary heart disease,Platelet count,Red blood cell traits,Beta-2 microglubulin plasma levels,Autoimmune hepatitis type-1,Systolic blood pressure,Type 1 diabetes,Type 1 diabetes autoantibodies,Hypothyroidism	0.995017	0.997	0.852636	0.6340	0.6625	0.9991	0.787901924962	0.897836747596	0.636,T	0.0,B	0.0,B	1,P	0.000011,N	-2.25,N	-0.83,T	8.173	0.533	0.339	.	2.97	AC=50;AN=50;BQB=1;DP4=1,0,1448,401;DP=2492;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.548529	GT:DP:DV:PL	1/1:77:77:255,232,0	1/1:66:65:255,139,0	1/1:79:79:255,238,0	1/1:61:61:255,184,0	1/1:66:66:255,199,0	1/1:107:107:255,255,0	1/1:72:72:255,217,0	1/1:82:82:255,247,0	1/1:68:68:255,205,0	1/1:55:55:255,166,0	1/1:88:88:255,255,0	1/1:65:65:255,196,0	1/1:61:61:255,184,0	1/1:87:87:255,255,0	1/1:72:72:255,217,0	1/1:72:72:255,217,0	1/1:62:62:255,187,0	1/1:48:48:255,144,0	1/1:85:85:255,255,0	1/1:72:72:255,217,0	1/1:65:65:255,196,0	1/1:121:121:255,255,0	1/1:30:30:255,90,0	1/1:95:95:255,255,0	1/1:94:94:255,255,0	T	C	25	0	Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic, 187950 (3); Erythrocytosis, somatic, 133100 (3)	24768677(8E-8);24262325(9E-7);24026423(5E-11);23417110(3E-8);23222517(4E-19);22493691(3E-12);22139419(1E-26);21909115(4E-25);21829393(2E-38);21378990(6E-6);20453842(6E-6);19430480(3E-27);19430479(5E-9);19430479(3E-14);19198610(7E-19)	Celiac disease, association with(CM084630)	CGG-TGG|Arg262Trp|c.784C>T|p.R262W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18311140&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24777453&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19198610&dopt=Abstract)	18311140|24777453|19198610|20843259|20404132|18618018|17554300|16882979|12070287|11114373|10799879	.	.	.	KEGG_NEUROTROPHIN_SIGNALING_PATHWAY	PID_KITPATHWAY;PID_EPOPATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_REGULATION_OF_KIT_SIGNALING;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	12	111993712	rs7969300	C	T	171.41	PASS	ATXN2	ataxin 2	exonic	NM_002973	.	missense SNV	ATXN2:NM_002973:exon2:c.G743A:p.S248N	ENST00000389153.4,ENST00000608853.1,ENST00000549455.1,ENST00000550104.1,ENST00000542287.2,ENST00000377617.3,ENST00000535949.1	.	12q24.12	.	.	.	.	.	rs7969300	.	.	0.51495	0.5228	0.179513	0.0431	0.0905	0.5838	0.41730476876	0.439903653846	0.128,T	0.002,B	0.0,B	1.99931e-12,P	0.000016,N	0,N	0.61,T	8.2379	0.285	1.672	2.280725,18.04	2.48	AC=27;AN=40;BQB=0.71154;DP4=52,34,118,64;DP=368;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=0.95494;RPB=0.71154;SF=0,1,2,4,5,6,7,8,10,11,12,13,14,15,17,18,20,21,23,24;SGB=-0.616816;VDB=0.622148	GT:DP:DV:PL	0/1:12:6:168,0,196	1/1:20:20:255,60,0	1/1:12:12:255,36,0	.	0/1:14:8:227,0,218	0/1:7:3:130,0,133	0/1:10:6:156,0,103	1/1:18:18:255,54,0	0/1:22:11:255,0,255	.	0/1:14:12:255,0,69	1/1:7:7:212,21,0	0/1:15:6:165,0,254	1/1:14:14:255,42,0	0/1:12:4:120,0,230	0/1:18:8:207,0,255	.	0/1:13:8:205,0,148	1/1:10:10:250,30,0	.	1/1:12:12:255,36,0	0/1:17:11:255,0,159	.	0/1:8:3:82,0,203	0/1:13:3:90,0,255	C	T	7	13	Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3)	.	Schizophrenia, association with(CM143605)	AGT-AAT|Ser248Asn|c.743G>A|p.S248N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24333172&dopt=Abstract)	24333172|23687048|23687047|23172909|23087021|21670397|21610160|21562247|21537950|20740007|18250099|17568014|16713569|16293225|16115810|12812977|11761482|11689490|11311558|10993999|10915763|10814712|9989626|9668173|9480749|9158145|8896557|8896556|8896555|8696339|7477379	MACROMOLECULAR_COMPLEX_ASSEMBLY;RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS_AND_ASSEMBLY;PROTEIN_RNA_COMPLEX_ASSEMBLY;CELLULAR_COMPONENT_ASSEMBLY	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;GOLGI_APPARATUS_PART;PERINUCLEAR_REGION_OF_CYTOPLASM;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANS_GOLGI_NETWORK	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	PS1,PS3,BA1
L	12	121437382	rs1169305	A	G	228	PASS	HNF1A	HNF1 homeobox A	exonic	NM_000545,NM_001306179	.	missense SNV	HNF1A:NM_000545:exon9:c.A1720G:p.S574G,HNF1A:NM_001306179:exon9:c.A1741G:p.S581G	ENST00000257555.6,ENST00000541395.1,ENST00000544413.1	.	12q24.31	.	.	.	.	.	rs1169305	CLINSIG=Pathogenic\x2cnot provided|not provided;CLNDBN=Maturity-onset_diabetes_of_the_young\x2c_type_3\x2cMaturity-onset_diabetes_of_the_young\x2c_type_3|not_specified;CLNACC=RCV000016077.25,RCV000030490.2|RCV000121200.1;CLNDSDB=MedGen:OMIM\x2cMedGen:OMIM|MedGen;CLNDSDBID=C1838100:600496\x2cC1838100:600496|CN169374	.	1	1	0.985224	0.9869	0.9958	0.9998	1	0.901442235577	0.514,T	0.0,B	0.0,B	1,P	0.042775,N	.	-2.86,D	8.1641	-0.004	0.318	.	2.58	AC=50;AN=50;DP4=0,0,233,449;DP=879;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.690438;VDB=0.00237216	GT:DP:DV:PL	1/1:17:17:255,51,0	1/1:24:24:255,72,0	1/1:25:25:255,75,0	1/1:16:16:255,48,0	1/1:22:22:255,66,0	1/1:71:71:255,214,0	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:22:22:255,66,0	1/1:16:16:255,48,0	1/1:27:27:255,81,0	1/1:18:18:255,54,0	1/1:22:22:255,66,0	1/1:27:27:255,81,0	1/1:24:24:255,72,0	1/1:20:20:255,60,0	1/1:20:20:255,60,0	1/1:14:14:255,42,0	1/1:25:25:255,75,0	1/1:33:33:255,99,0	1/1:26:26:255,78,0	1/1:58:58:255,175,0	1/1:16:16:255,48,0	1/1:58:58:255,175,0	1/1:48:48:255,144,0	A	G	25	0	MODY, type III, 600496 (3); {Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3); Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes mellitus, insulin-dependent, 20, 612520 (3)	.	Diabetes, type 2, association with(CM020516)	GGC-AGC|Gly574Ser|c.1720G>A|p.G574S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10096793&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11938027&dopt=Abstract)	10096793|24728327|11938027|21562492|18439552|18439548|17529977|15928245|15649945|14988562|12788852|12574234|12453420|12355088|12107757|12011060|11938027|11904371|11668618|11575290|11279518|11232004|11162430|11121425|11058894|10852449|10843190|10696112|10649494|10482964|10084598|9851800|9814481|9754819|9439666|9313764|9313763|9112026|9097962|9075819|9075818|9032114|8945470|8866553|8598044|3499668|2264930|2263635|2044952|1763325|1707031|1673926|1673925|1535333|207987	REGULATION_OF_BIOLOGICAL_QUALITY;RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;HOMEOSTATIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	PID_PS1PATHWAY;PID_HNF3BPATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_GH_PATHWAY;BIOCARTA_PS1_PATHWAY;BIOCARTA_MAL_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT;REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS	PS1,PS3,BA1
L	12	122295335	rs1154510	T	C	226.76	PASS	HPD	4-hydroxyphenylpyruvate dioxygenase	exonic	NM_002150	.	missense SNV	HPD:NM_002150:exon4:c.A97G:p.T33A	ENST00000289004.4,ENST00000543163.1	.	12q24.31	.	.	.	.	.	rs1154510	CLINSIG=Pathogenic;CLNDBN=4-Alpha-hydroxyphenylpyruvate_hydroxylase_deficiency;CLNACC=RCV000001643.2;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C2931042:140350:2118	.	0.86711	0.871	0.876398	0.9009	0.8502	0.8520	0.672282042879	0.784855973558	1.0,T	.	.	1e-37,P	0.000000,N	.	-0.38,T	12.8675	1.471	3.896	.	5.48	AC=45;AN=50;BQB=0.655406;DP4=85,78,691,668;DP=2080;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993846;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00774206	GT:DP:DV:PL	1/1:59:59:255,178,0	0/1:49:21:255,0,255	1/1:66:66:255,199,0	1/1:56:56:255,169,0	1/1:54:54:255,163,0	1/1:88:88:255,255,0	0/1:59:29:255,0,255	1/1:61:61:255,184,0	1/1:54:54:255,163,0	1/1:69:69:255,208,0	1/1:55:55:255,166,0	1/1:50:50:255,151,0	1/1:54:54:255,163,0	1/1:71:71:255,214,0	1/1:65:65:255,196,0	1/1:40:40:255,120,0	0/1:51:15:255,0,255	1/1:44:44:255,129,0	0/1:59:22:255,0,255	1/1:53:53:255,160,0	0/1:65:33:255,0,255	1/1:107:107:255,255,0	1/1:27:27:255,81,0	1/1:89:89:255,255,0	1/1:77:77:255,232,0	T	C	20	5	Tyrosinemia, type III, 276710 (3); Hawkinsinuria, 140350 (3)	.	Hawkinsinuria(CM003889)	GCG-ACG|Ala33Thr|c.97G>A|p.A33T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11073718&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10942115&dopt=Abstract)	11073718|20981092|10942115|13416295|11073718|10942115|9343288|9325050|8521727|8504803|7851880|7278885|1519651|1130176|858207	CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_CATABOLIC_PROCESS;AMINE_CATABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;AROMATIC_COMPOUND_METABOLIC_PROCESS;CATABOLIC_PROCESS;NITROGEN_COMPOUND_CATABOLIC_PROCESS	.	.	KEGG_TYROSINE_METABOLISM;KEGG_PHENYLALANINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	12	125284748	rs5888	A	G	226.43	PASS	SCARB1	scavenger receptor class B, member 1	exonic	NM_001082959,NM_005505	.	synonymous SNV	SCARB1:NM_001082959:exon8:c.T1050C:p.A350A,SCARB1:NM_005505:exon8:c.T1050C:p.A350A	ENST00000261693.6,ENST00000535005.1,ENST00000376788.1,ENST00000541205.1,ENST00000415380.2,ENST00000339570.5,ENST00000540495.1,ENST00000544327.1,ENST00000546215.1	.	12q24.31	.	.	.	.	.	rs5888	.	.	0.752492	0.7599	0.677117	0.6184	0.5852	0.7465	0.609494830015	0.677884920673	.	.	.	.	.	.	.	.	-4.588	-6.335	.	.	AC=40;AN=46;BQB=0.720039;DP4=89,32,491,178;DP=1089;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.88059;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.692067;VDB=0.109837	GT:DP:DV:PL	1/1:20:20:255,60,0	1/1:29:29:255,87,0	0/1:33:16:255,0,255	1/1:36:36:255,108,0	0/1:27:14:255,0,247	0/1:53:25:255,0,255	1/1:34:34:255,102,0	0/1:46:20:255,0,255	1/1:22:22:255,66,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	1/1:28:28:255,84,0	1/1:25:25:255,75,0	.	1/1:34:34:255,102,0	1/1:29:29:255,87,0	1/1:35:35:255,105,0	1/1:26:26:255,78,0	1/1:32:32:255,96,0	1/1:44:44:255,132,0	0/1:31:14:255,0,255	1/1:47:47:255,141,0	.	1/1:51:51:255,154,0	0/1:40:20:255,0,255	A	G	17	6	[High density lipoprotein cholesterol level QTL6], 610762 (3)	.	Lipoprotein levels, association with(CM994636)	GCC-GCT|Ala350Ala|c.1050C>T|p.A350A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12519372&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10397692&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20060115&dopt=Abstract)	12519372|10397692|20060115|25701869|24162852|23459944|21480869|21470031|21470028|21226579|20686565|17071747|16020694|15671101|14730480|12807968|12788901|12519372|12356718|11919305|11733567|10829064|10397692|9539787|9539689|9407090|9211901|8560269|7689561|7539776	ESTABLISHMENT_OF_LOCALIZATION;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;TRANSPORT;CELLULAR_LIPID_METABOLIC_PROCESS	MEMBRANE;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	.	.	.	REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	13	20763612	rs72474224	C	T	220.86	PASS	GJB2	gap junction protein, beta 2, 26kDa	exonic	NM_004004	.	missense SNV	GJB2:NM_004004:exon2:c.G109A:p.V37I	ENST00000382848.4,ENST00000382844.1	.	13q12.11	.	.	.	.	.	rs72474224	CLINSIG=Likely pathogenic\x2cother|Pathogenic|Pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A\x2cDeafness\x2c_autosomal_recessive_1A|not_provided|Hearing_impairment;CLNACC=RCV000156043.1,RCV000018550.30|RCV000080365.3|RCV000146005.1;CLNDSDB=MedGen:OMIM\x2cMedGen:OMIM|MedGen|Human_Phenotype_Ontology:Human_Phenotype_Ontology:Human_Phenotype_Ontology:Human_Phenotype_Ontology:Human_Phenotype_Ontology:Human_Phenotype_Ontology:Human_Phenotype_Ontology:MedGen;CLNDSDBID=C2673759:220290\x2cC2673759:220290|CN221809|HP:0000365:HP:0000404:HP:0001728:HP:0001729:HP:0001754:HP:0008560:HP:0008563:CN000341	.	0.089701	0.0734	0.0153754	0.0013	0.0066	0.0724	0.0551301797856	0.0769230901442	0.717,T	0.996,D	1.0,D	1,A	0.000028,D	2.095,M	-5.46,D	19.1211	2.571	5.984	0.981206,10.55	5.21	AC=7;AN=14;BQB=0.884794;DP4=105,91,90,66;DP=477;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.92034;SF=7,8,10,16,20,22,23;SGB=-0.692914;VDB=0.50899	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:50:25:255,0,255	0/1:65:29:255,0,255	.	0/1:56:21:255,0,255	.	.	.	.	.	0/1:54:27:255,0,255	.	.	.	0/1:39:11:248,0,255	.	0/1:27:15:255,0,255	0/1:61:28:255,0,255	.	C	T	0	7	Deafness, autosomal recessive 1A, 220290 (3); Deafness, autosomal dominant 3A, 601544 (3); Vohwinkel syndrome, 124500 (3); Keratoderma, palmoplantar, with deafness, 148350 (3); Keratitis-ichthyosis-deafness syndrome, 148210 (3); Hystrix-like ichthyosis with deafness, 602540 (3); Bart-Pumphrey syndrome, 149200 (3)	.	Deafness, autosomal recessive 1(CM000016) || Sensorineural hearing loss(CM077559)	GTT-ATT|Val37Ile|c.109G>A|p.V37I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10633133&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22106692&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22995991&dopt=Abstract) || GTT-CTT|Val37Leu|c.109G>C|p.V37L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17666888&dopt=Abstract)	10633133|22106692|22995991|17666888|25262649|22981120|22031297|21776002|20815033|20442751|20412116|20236118|19375528|19340074|19050930|18985073|18941476|18925674|18843290|17993581|17935238|17713529|17660464|17505205|17426645|17330861|17256794|17041943|17036313|16868655|16840571|16773579|16650079|16628254|16380907|16222667|16088916|16059934|15996214|15952212|15700112|15666300|15633193|15592461|15482471|15365987|15253766|15241677|15235031|15151513|15150777|14986832|14985372|14735592|14700667|14694360|14505035|14070830|12920081|12865758|12833397|12786762|12786758|12752120|12700168|12684873|12668604|12560944|12548749|12522556|12484567|12457154|12384781|12384501|12372058|12239718|12189493|12189487|12176036|12172394|12172392|12121617|12121355|12111646|12107817|12081719|12080392|12072059|11977173|11935342|11912510|11807148|11746015|11556849|11483639|11354642|11313763|11313751|11298683|11179004|11134236|10982182|10982180|10981905|10980526|10903123|10874298|10830906|10807696|10782932|10757647|10713883|10633135|10633133|10607953|10544226|10422812|10376574|10369869|10218527|9856479|9819448|9716127|9620796|9529365|9482297|9482292|9471561|9422505|9358053|9336442|9328482|9326398|9285800|9139825|8978770|8789457|2956987|2706105|1964417|1849321|1370487|1324944	ESTABLISHMENT_OF_LOCALIZATION;CELL_CELL_SIGNALING;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SYSTEM_PROCESS	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;INTERCALATED_DISC;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_GAP_JUNCTION_TRAFFICKING;REACTOME_GAP_JUNCTION_ASSEMBLY	PS1,PS3,BA1
L	13	23898664	rs1800354	A	G	213.8	PASS	SGCG	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	exonic	NM_000231	.	missense SNV	SGCG:NM_000231:exon8:c.A860G:p.N287S	ENST00000537476.1,ENST00000545013.1,ENST00000218867.3	.	13q12.12	.	.	.	.	.	rs1800354	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000153942.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	1	0.999	0.877796	0.8211	0.8817	0.9992	1	0.900240264423	1.0,T	0.0,B	0.0,B	0.999998,P	0.000629,N	-2.215,N	-1.82,D	14.4221	1.305	4.018	.	5.41	AC=50;AN=50;DP4=0,0,87,327;DP=491;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.242693	GT:DP:DV:PL	1/1:14:14:255,42,0	1/1:16:16:255,48,0	1/1:14:14:238,42,0	1/1:29:29:255,87,0	1/1:18:18:192,54,0	1/1:19:19:255,57,0	1/1:17:17:255,51,0	1/1:22:22:255,66,0	1/1:13:13:255,39,0	1/1:5:5:129,15,0	1/1:13:13:255,39,0	1/1:13:13:255,39,0	1/1:14:14:232,42,0	1/1:22:22:255,66,0	1/1:14:14:255,42,0	1/1:17:17:255,51,0	1/1:15:15:243,45,0	1/1:14:14:255,42,0	1/1:18:18:255,54,0	1/1:22:22:255,66,0	1/1:21:21:255,63,0	1/1:19:19:255,57,0	1/1:4:4:143,12,0	1/1:22:22:255,66,0	1/1:19:19:255,57,0	A	G	25	0	Muscular dystrophy, limb-girdle, type 2C, 253700 (3)	.	Muscular dystrophy, limb girdle 2C(CM1414776)	AGC-AAC|Ser287Asn|c.860G>A|p.S287N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24638197&dopt=Abstract)	24638197|18285821|16832103|15479193|15322984|10942431|10874299|10447257|9781048|8968757|8923014|7481775|1303286	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;MEMBRANE_PART;BASEMENT_MEMBRANE;MEMBRANE;CYTOPLASM;BASAL_LAMINA;DYSTROPHIN_ASSOCIATED_GLYCOPROTEIN_COMPLEX;EXTRACELLULAR_REGION_PART;MACROMOLECULAR_COMPLEX;EXTRACELLULAR_MATRIX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY;KEGG_VIRAL_MYOCARDITIS	.	.	.	PS1,PS3,BA1
L	13	32929387	rs169547	T	C	228	PASS	BRCA2	breast cancer 2, early onset	exonic	NM_000059	.	missense SNV	BRCA2:NM_000059:exon14:c.T7397C:p.V2466A	ENST00000380152.3,ENST00000544455.1	.	13q13.1	.	.	.	.	.	rs169547	CLINSIG=Benign|Benign|Benign|Benign\x2cBenign|Uncertain significance;CLNDBN=Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_2|not_specified|Hereditary_breast_and_ovarian_cancer_syndrome\x2cnot_specified|Ductal_breast_carcinoma;CLNACC=RCV000045197.4|RCV000113751.2|RCV000168597.1|RCV000203672.1,RCV000120357.4|RCV000207137.1;CLNDSDB=MedGen:OMIM:SNOMED_CT|MedGen:OMIM|MedGen|MedGen:Orphanet\x2cMedGen|MedGen;CLNDSDBID=C0346153:114480:254843006|C2675520:612555|CN169374|C0677776:ORPHA145\x2cCN169374|C1527349	.	1	1	0.975839	0.9777	0.9937	0.9999	0.796324606432	0.901442235577	1.0,T	.	.	1,P	0.193508,N	.	5.95,T	12.0918	1.274	2.352	.	5.07	AC=50;AN=50;BQB=1;DP4=0,1,318,309;DP=836;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693132;VDB=0.0313596	GT:DP:DV:PL	1/1:34:34:255,102,0	1/1:23:23:255,69,0	1/1:17:17:255,51,0	1/1:27:27:255,81,0	1/1:28:28:255,84,0	1/1:32:32:255,96,0	1/1:25:25:255,75,0	1/1:24:24:255,72,0	1/1:30:30:255,90,0	1/1:22:22:255,66,0	1/1:25:25:255,75,0	1/1:36:36:255,108,0	1/1:23:23:255,69,0	1/1:24:24:255,72,0	1/1:17:17:255,51,0	1/1:26:26:255,78,0	1/1:36:36:255,108,0	1/1:23:23:255,69,0	1/1:30:30:255,90,0	1/1:18:18:255,54,0	1/1:22:22:255,66,0	1/1:33:32:255,62,0	1/1:9:9:255,27,0	1/1:17:17:255,51,0	1/1:27:27:255,81,0	T	C	25	0	{Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia, complementation group D1, 605724 (3); {Prostate cancer}, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3); {Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pancreatic cancer 2}, 613347 (3)	.	Breast cancer(CM960194)	GCA-GTA|Ala2466Val|c.7397C>T|p.A2466V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8665505&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	8665505|20981092|24728327|24776801|21654808|20729832|20418484|19656774|18264088|18212739|17924331|16950820|16914443|16909395|16825431|16793542|16141007|15829967|15829966|15800615|15703751|15689453|15645491|15375219|15235023|15115758|15070707|14681210|14670928|14636569|14569130|14559878|12955716|12928478|12736286|12474142|12442171|12228710|12145750|12097290|12093742|12065746|11929857|11694875|11447276|11359068|11257103|11239456|11239455|11239454|11179017|11170890|11170288|11158174|11062481|11039575|10807692|10570174|10445022|10433620|10417300|10398279|9774970|9758598|9660919|9634522|9585617|9585613|9171369|9171368|9150155|9145678|9140390|9126738|9126734|9126728|9063750|9012404|8988179|8917547|8896551|8841192|8841191|8812419|8808615|8781411|8673092|8673090|8640237|8640236|8640235|8589730|8589722|8524414|8193701|8091231|8075631|7597059	DNA_METABOLIC_PROCESS;DNA_REPAIR;CYTOKINESIS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;CENTROSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;CELL_DIVISION;MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NUCLEOTIDE_EXCISION_REPAIR;CELL_CYCLE_GO_0007049;CENTROSOME_CYCLE;RESPONSE_TO_HORMONE_STIMULUS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;RESPONSE_TO_ORGANIC_SUBSTANCE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MEMBRANE_BOUND_VESICLE;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;VESICLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;CYTOPLASMIC_VESICLE;MICROTUBULE_ORGANIZING_CENTER;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;HISTONE_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_HOMOLOGOUS_RECOMBINATION;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER	PID_FANCONI_PATHWAY;PID_P73PATHWAY;PID_ATR_PATHWAY;PID_FOXM1PATHWAY;PID_DELTANP63PATHWAY	BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_MEIOTIC_RECOMBINATION	PS1,PS3,BA1
L	13	47469940	rs6313	G	A	222	PASS	HTR2A	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	exonic	NM_000621	.	synonymous SNV	HTR2A:NM_000621:exon2:c.C102T:p.S34S	ENST00000378688.4,ENST00000542664.1,ENST00000543956.1	.	13q14.2	.	.	.	.	.	rs6313	.	.	0.593023	0.5883	0.441294	0.4007	0.4071	0.5827	0.434149713629	0.521634538462	.	.	.	.	.	.	.	.	-1.570	-1.376	1.663875,14.20	.	AC=33;AN=46;BQB=0.995129;DP4=74,113,205,236;DP=835;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.460614;SF=0,1,2,3,4,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.689466;VDB=0.265944	GT:DP:DV:PL	0/1:31:16:255,0,255	0/1:18:8:255,0,255	0/1:33:14:255,0,255	1/1:29:29:255,87,0	1/1:22:22:255,66,0	.	0/1:39:19:255,0,255	1/1:27:27:255,81,0	.	0/1:23:13:255,0,255	0/1:26:12:255,0,255	0/1:23:10:241,0,255	0/1:25:11:211,0,255	1/1:20:20:255,60,0	0/1:23:10:255,0,255	0/1:33:16:255,0,255	1/1:24:24:255,72,0	0/1:21:9:253,0,255	1/1:32:32:255,96,0	1/1:25:25:255,75,0	0/1:28:13:255,0,255	1/1:43:43:255,129,0	1/1:18:18:255,54,0	1/1:29:29:255,87,0	0/1:36:21:255,0,255	G	A	10	13	{Schizophrenia, susceptibility to}, 181500 (3); {Obsessive-compulsive disorder, susceptibility to}, 164230 (3); {Seasonal affective disorder, susceptibility to}, 608516 (3); {Alcohol dependence, susceptibility to}, 103780 (3); {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3)	.	Schizophrenia, association with(CM960851)	TCT-TCC|Ser34Ser|c.102T>C|p.S34S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8622505&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19352591&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24178752&dopt=Abstract)	8622505|19352591|24178752|18297054|17005723|16873667|16642436|16601191|15550673|15364038|15313842|14566344|12563180|12524541|12476319|10918541|10089016|10089015|9729300|9700207|9635956|9491814|9482450|9361029|9357428|9259661|9130948|8966556|8900237|8678105|8622505|3284448|2032718|1980030|1765383|1323014	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SEROTONIN_RECEPTOR_ACTIVITY;AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_SEROTONIN_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	13	52515354	rs1801249	A	G	223.45	PASS	ATP7B	ATPase, Cu++ transporting, beta polypeptide	exonic	NM_000053,NM_001005918,NM_001243182	.	missense SNV	ATP7B:NM_001005918:exon12:c.T2798C:p.V933A,ATP7B:NM_000053:exon16:c.T3419C:p.V1140A,ATP7B:NM_001243182:exon17:c.T3086C:p.V1029A	ENST00000482841.1,ENST00000448424.2,ENST00000400366.3,ENST00000418097.2,ENST00000344297.5,ENST00000242839.4,ENST00000400370.3,ENST00000417240.2	.	13q14.3	.	.	Score=785;Name=V$PPARG_03	.	.	rs1801249	CLINSIG=Benign|other;CLNDBN=Wilson's_disease|not_specified;CLNACC=RCV000029369.1|RCV000078051.6;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0019202:277900:905:88518009|CN169374	.	0.416944	0.4008	0.540535	0.5776	0.5653	0.3938	0.332312526799	0.376202209135	0.387,T	0.038,B	0.001,B	1,P	0.057420,N	0.155,N	-3.78,D	1.6572	-0.133	0.111	.	.	AC=25;AN=40;BQB=0.540601;DP4=155,116,257,192;DP=959;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.632483;SF=2,3,4,5,6,7,8,9,10,11,12,13,15,17,18,19,20,21,23,24;SGB=-0.693097;VDB=0.451225	GT:DP:DV:PL	.	.	1/1:30:30:255,90,0	0/1:37:18:255,0,255	0/1:36:15:255,0,255	1/1:36:35:255,87,0	0/1:41:22:255,0,255	0/1:41:20:255,0,255	0/1:41:16:255,0,255	0/1:35:17:255,0,255	0/1:26:14:255,0,255	0/1:36:21:255,0,255	1/1:28:28:255,84,0	0/1:39:17:255,0,255	.	0/1:41:21:255,0,255	.	1/1:27:27:255,78,0	0/1:33:23:255,0,205	0/1:33:18:255,0,255	0/1:39:24:255,0,255	0/1:45:24:255,0,255	.	1/1:40:40:255,120,0	0/1:36:19:255,0,255	A	G	5	15	Wilson disease, 277900 (3)	.	Wilson disease(CM044579) || Wilson disease(CD056134)	GTC-GCC|Val1140Ala|c.3419T>C|p.V1140A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14966923&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21228398&dopt=Abstract) || ATAG_I15E16_AT^1139GCAGtCCCCCAGACC|c.3419delT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15811015&dopt=Abstract)	14966923|20981092|21228398|15811015|21796144|21716286|20333758|19419418|17718866|17587212|16554302|16283883|16207219|16133174|15952988|15845031|15557537|15523622|14986826|14616767|12544487|12376745|12325021|11857545|11405812|11216666|11157799|11093740|11060541|10942420|10940336|10790207|10721669|10502776|9887381|9724794|9671269|9554743|9430732|9311736|9307043|8533760|8298641|8298639|8037756|7833924|7814642|7762553|7726170|7666402|7626145|7490097	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;MAINTENANCE_OF_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;LATE_ENDOSOME;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;BASOLATERAL_PLASMA_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;ION_BINDING;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PS1,PS3,BA1
L	13	52523808	rs732774	C	T	150.1	PASS	ATP7B	ATPase, Cu++ transporting, beta polypeptide	exonic	NM_000053,NM_001243182	.	missense SNV	ATP7B:NM_000053:exon12:c.G2855A:p.R952K,ATP7B:NM_001243182:exon13:c.G2522A:p.R841K	ENST00000482841.1,ENST00000448424.2,ENST00000400366.3,ENST00000418097.2,ENST00000344297.5,ENST00000242839.4,ENST00000400370.3,ENST00000417240.2	.	13q14.3	.	.	.	.	.	rs732774	CLINSIG=Benign|other;CLNDBN=Wilson's_disease|not_specified;CLNACC=RCV000029357.1|RCV000078044.6;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0019202:277900:905:88518009|CN169374	.	0.416944	0.4018	0.53095	0.5717	0.5627	0.3935	0.416944	0.373798543269	1.0,T	0.03,B	0.04,B	1.72792e-29,P	0.000000,N	-0.405,N	-3.73,D	12.3556	1.111	2.782	2.121684,17.00	6.06	AC=24;AN=38;BQB=0.94394;DP4=79,7,140,9;DP=313;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996401;SF=2,3,5,6,7,8,9,10,11,12,13,15,17,18,19,20,21,23,24;SGB=-0.683931;VDB=0.18952	GT:DP:DV:PL	.	.	1/1:13:13:255,39,0	0/1:12:8:223,0,107	.	1/1:11:11:250,33,0	0/1:6:4:156,0,61	0/1:13:6:111,0,210	0/1:15:8:195,0,168	0/1:14:5:140,0,229	0/1:13:5:139,0,211	0/1:17:8:172,0,235	1/1:15:15:255,45,0	0/1:10:6:164,0,112	.	0/1:19:12:255,0,175	.	1/1:11:11:220,33,0	0/1:11:7:192,0,122	0/1:12:6:160,0,155	0/1:11:3:78,0,183	0/1:11:5:122,0,120	.	1/1:12:12:242,36,0	0/1:9:4:123,0,151	C	T	5	14	Wilson disease, 277900 (3)	.	Alzheimer disease, association with(CM127927)	AGA-AAA|Arg952Lys|c.2855G>A|p.R952K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22356903&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22692182&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23760784&dopt=Abstract)	22356903|22692182|23760784|21796144|21716286|20333758|19419418|17718866|17587212|16554302|16283883|16207219|16133174|15952988|15845031|15557537|15523622|14986826|14616767|12544487|12376745|12325021|11857545|11405812|11216666|11157799|11093740|11060541|10942420|10940336|10790207|10721669|10502776|9887381|9724794|9671269|9554743|9430732|9311736|9307043|8533760|8298641|8298639|8037756|7833924|7814642|7762553|7726170|7666402|7626145|7490097	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;MAINTENANCE_OF_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;LATE_ENDOSOME;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;BASOLATERAL_PLASMA_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;ION_BINDING;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PS1,PS3,BA1
L	13	52524488	rs1061472	T	C	222.9	PASS	ATP7B	ATPase, Cu++ transporting, beta polypeptide	exonic	NM_000053,NM_001005918,NM_001243182	.	missense SNV	ATP7B:NM_001005918:exon7:c.A2009G:p.K670R,ATP7B:NM_000053:exon10:c.A2495G:p.K832R,ATP7B:NM_001243182:exon11:c.A2162G:p.K721R	ENST00000482841.1,ENST00000448424.2,ENST00000400366.3,ENST00000418097.2,ENST00000344297.5,ENST00000242839.4,ENST00000400370.3,ENST00000417240.2	.	13q14.3	.	.	.	.	.	rs1061472	CLINSIG=Benign|Benign;CLNDBN=Wilson's_disease|not_specified;CLNACC=RCV000029356.1|RCV000078043.5;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0019202:277900:905:88518009|CN169374	.	0.416944	0.4008	0.502396	0.5522	0.5384	0.3936	0.416944	0.372596572115	0.065,T	0.789,P	0.954,P	8.29391e-31,P	0.000000,D	0.41,N	-2.64,D	15.6572	2.107	6.209	2.981011,22.2	5.54	AC=25;AN=40;BQB=0.457304;DP4=57,181,135,298;DP=831;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.907783;SF=2,3,4,5,6,7,8,9,10,11,12,13,15,17,18,19,20,21,23,24;SGB=-0.69311;VDB=0.152428	GT:DP:DV:PL	.	.	1/1:31:31:255,93,0	0/1:41:27:255,0,231	0/1:36:16:255,0,255	1/1:50:50:255,151,0	0/1:29:13:255,0,228	0/1:28:17:255,0,184	0/1:29:12:255,0,255	0/1:33:17:255,0,235	0/1:34:18:255,0,248	0/1:31:17:255,0,255	1/1:28:28:255,84,0	0/1:25:13:255,0,255	.	0/1:28:13:244,0,255	.	1/1:25:25:255,75,0	0/1:27:15:255,0,218	0/1:42:21:255,0,255	0/1:34:20:255,0,226	0/1:49:21:255,0,255	.	1/1:49:49:255,148,0	0/1:22:10:255,0,255	T	C	5	15	Wilson disease, 277900 (3)	.	Alzheimer disease, association with(CM116966)	AAG-AGG|Lys832Arg|c.2495A>G|p.K832R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21760992&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22356903&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24897373&dopt=Abstract)	21760992|22356903|24897373|21796144|21716286|20333758|19419418|17718866|17587212|16554302|16283883|16207219|16133174|15952988|15845031|15557537|15523622|14986826|14616767|12544487|12376745|12325021|11857545|11405812|11216666|11157799|11093740|11060541|10942420|10940336|10790207|10721669|10502776|9887381|9724794|9671269|9554743|9430732|9311736|9307043|8533760|8298641|8298639|8037756|7833924|7814642|7762553|7726170|7666402|7626145|7490097	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;MAINTENANCE_OF_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;LATE_ENDOSOME;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;BASOLATERAL_PLASMA_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;ION_BINDING;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PS1,PS3,BA1
L	13	52544805	rs1801244	C	G	224.21	PASS	ATP7B	ATPase, Cu++ transporting, beta polypeptide	exonic	NM_000053,NM_001005918,NM_001243182	.	missense SNV	ATP7B:NM_000053:exon3:c.G1366C:p.V456L,ATP7B:NM_001005918:exon3:c.G1366C:p.V456L,ATP7B:NM_001243182:exon4:c.G1033C:p.V345L	ENST00000482841.1,ENST00000448424.2,ENST00000400366.3,ENST00000418097.2,ENST00000542656.1,ENST00000344297.5,ENST00000242839.4,ENST00000400370.3	.	13q14.3	.	.	.	.	.	rs1801244	CLINSIG=Benign|Benign;CLNDBN=Wilson's_disease|not_specified;CLNACC=RCV000029351.1|RCV000078039.5;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0019202:277900:905:88518009|CN169374	.	0.493355	0.4841	0.376997	0.4052	0.4346	0.4835	0.382848022971	0.438701526442	0.414,T	0.039,B	0.042,B	1,P	0.761497,N	0.695,N	-1.94,D	2.1644	0.214	-1.004	.	.	AC=26;AN=38;BQB=0.955854;DP4=182,157,328,318;DP=1402;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.940395;SF=0,1,4,5,6,8,9,10,11,12,13,15,17,18,19,20,21,23,24;SGB=-0.692717;VDB=0.00495325	GT:DP:DV:PL	0/1:49:23:255,0,255	0/1:48:25:255,0,255	.	.	0/1:51:28:255,0,255	0/1:73:34:255,0,255	1/1:54:54:255,163,0	.	0/1:47:19:255,0,255	1/1:53:53:255,160,0	0/1:51:22:255,0,255	1/1:46:46:255,138,0	1/1:40:40:255,120,0	1/1:47:47:255,141,0	.	1/1:51:51:255,154,0	.	1/1:39:39:255,117,0	0/1:52:27:255,0,255	0/1:46:26:255,0,255	0/1:46:23:255,0,255	0/1:64:32:255,0,255	.	0/1:64:29:255,0,255	0/1:64:28:255,0,255	C	G	7	12	Wilson disease, 277900 (3)	.	Alzheimer disease, association with(CM1212621)	GTG-CTG|Val456Leu|c.1366G>C|p.V456L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23830383&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22240481&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25704634&dopt=Abstract)	23830383|22240481|25704634|21796144|21716286|20333758|19419418|17718866|17587212|16554302|16283883|16207219|16133174|15952988|15845031|15557537|15523622|14986826|14616767|12544487|12376745|12325021|11857545|11405812|11216666|11157799|11093740|11060541|10942420|10940336|10790207|10721669|10502776|9887381|9724794|9671269|9554743|9430732|9311736|9307043|8533760|8298641|8298639|8037756|7833924|7814642|7762553|7726170|7666402|7626145|7490097	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;MAINTENANCE_OF_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;LATE_ENDOSOME;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;BASOLATERAL_PLASMA_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;ION_BINDING;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PS1,PS3,BA1
L	13	52548140	rs1801243	A	C	224.53	PASS	ATP7B	ATPase, Cu++ transporting, beta polypeptide	exonic	NM_000053,NM_001005918,NM_001243182	.	missense SNV	ATP7B:NM_000053:exon2:c.T1216G:p.S406A,ATP7B:NM_001005918:exon2:c.T1216G:p.S406A,ATP7B:NM_001243182:exon3:c.T883G:p.S295A	ENST00000482841.1,ENST00000448424.2,ENST00000400366.3,ENST00000418097.2,ENST00000542656.1,ENST00000344297.5,ENST00000242839.4,ENST00000400370.3	.	13q14.3	.	.	.	.	.	rs1801243	CLINSIG=Benign|Benign;CLNDBN=Wilson's_disease|not_specified;CLNACC=RCV000029350.1|RCV000078038.5;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0019202:277900:905:88518009|CN169374	.	0.549834	0.5367	0.376198	0.4012	0.4388	0.5337	0.433384529862	0.485576920673	0.375,T	0.078,B	0.113,B	1,P	0.665665,N	0.695,N	-2.09,D	4.4207	0.055	-0.668	.	.	AC=27;AN=38;BQB=0.872566;DP4=290,66,636,138;DP=1523;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.521176;SF=0,1,4,5,6,8,9,10,11,12,13,15,17,18,19,20,21,23,24;SGB=-0.693139;VDB=0.0274103	GT:DP:DV:PL	0/1:55:36:255,0,255	0/1:56:26:255,0,255	.	.	0/1:59:30:255,0,255	0/1:92:49:255,0,255	1/1:63:63:255,190,0	.	0/1:55:29:255,0,255	1/1:34:34:255,102,0	0/1:80:40:255,0,255	1/1:49:49:255,148,0	1/1:55:55:255,166,0	1/1:55:55:255,166,0	.	1/1:55:55:255,166,0	.	1/1:41:41:255,123,0	0/1:47:23:255,0,255	0/1:59:23:255,0,255	1/1:59:59:255,178,0	0/1:75:37:255,0,255	.	0/1:65:32:255,0,255	0/1:76:38:255,0,255	A	C	8	11	Wilson disease, 277900 (3)	.	Wilson disease(CM129458)	TCT-GCT|Ser406Ala|c.1216T>G|p.S406A(oops.php|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22240481&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23333878&dopt=Abstract)	22240481|23333878|21796144|21716286|20333758|19419418|17718866|17587212|16554302|16283883|16207219|16133174|15952988|15845031|15557537|15523622|14986826|14616767|12544487|12376745|12325021|11857545|11405812|11216666|11157799|11093740|11060541|10942420|10940336|10790207|10721669|10502776|9887381|9724794|9671269|9554743|9430732|9311736|9307043|8533760|8298641|8298639|8037756|7833924|7814642|7762553|7726170|7666402|7626145|7490097	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;MAINTENANCE_OF_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;TRANSITION_METAL_ION_TRANSPORT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;ION_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;LATE_ENDOSOME;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;PERINUCLEAR_REGION_OF_CYTOPLASM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;ENDOSOME;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;BASOLATERAL_PLASMA_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;PURINE_NUCLEOTIDE_BINDING;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS_PHOSPHORYLATIVE_MECHANISM;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_TRANSMEMBRANE_MOVEMENT_OF_IONS;ATPASE_ACTIVITY_COUPLED;ION_BINDING;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATP_BINDING	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PS1,PS3,BA1
L	13	108863591	rs1805388	G	A	191	PASS	LIG4	ligase IV, DNA, ATP-dependent	exonic	NM_001098268,NM_002312,NM_206937	.	missense SNV	LIG4:NM_001098268:exon2:c.C26T:p.T9I,LIG4:NM_002312:exon2:c.C26T:p.T9I,LIG4:NM_206937:exon3:c.C26T:p.T9I	ENST00000356922.4,ENST00000405925.1,ENST00000442234.1	.	13q33.3	.	.	.	.	.	rs1805388	CLINSIG=other|Benign;CLNDBN=Multiple_myeloma\x2c_resistance_to|not_provided;CLNACC=RCV000008116.3|RCV000126631.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN221809	.	0.224252	0.2103	0.145767	0.1370	0.1730	0.2206	0.166155828484	0.199518983173	0.003,D	0.144,B	0.52,P	0.189619,P	0.041916,N	2.045,M	2.13,T	10.8846	0.814	4.883	2.612235,20.3	4.09	AC=10;AN=16;BQB=0.961166;DP4=22,32,30,45;DP=176;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=1;RPB=0.961166;SF=0,2,8,9,10,15,16,20;SGB=-0.616816;VDB=0.182083	GT:DP:DV:PL	0/1:13:6:206,0,239	.	0/1:14:5:173,0,255	.	.	.	.	.	1/1:13:13:255,39,0	0/1:12:7:162,0,170	1/1:12:12:255,36,0	.	.	.	.	0/1:24:11:255,0,248	0/1:17:11:240,0,148	.	.	.	0/1:24:10:234,0,255	.	.	.	.	G	A	2	6	LIG4 syndrome, 606593 (3); {Multiple myeloma, resistance to}, 254500 (3)	.	Reduced risk of multiple myeloma, association(CM023643)	ACT-ATT|Thr9Ile|c.26C>T|p.T9I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12471202&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22466227&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15333585&dopt=Abstract)	12471202|22466227|15333585|20133615|19451691|17713479|17554302|16357942|16088910|15333585|15175260|12471202|12023982|11779495|11779494|11349135|11040211|10911993|10395545|9823897|9809069|8798671|7760816	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;RESPONSE_TO_ABIOTIC_STIMULUS;DOUBLE_STRAND_BREAK_REPAIR;NUCLEOTIDE_EXCISION_REPAIR;RESPONSE_TO_IONIZING_RADIATION;RESPONSE_TO_RADIATION;RESPONSE_TO_DNA_DAMAGE_STIMULUS	ORGANELLE_PART;NUCLEAR_PART;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CONDENSED_CHROMOSOME;PROTEIN_COMPLEX;CHROMOSOME	LIGASE_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;DNA_BINDING	KEGG_NON_HOMOLOGOUS_END_JOINING	PID_DNAPK_PATHWAY	.	REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_EARLY_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_INTEGRATION_OF_PROVIRUS	PS1,PS3,BA1
L	14	37135753	rs4904210	G	C	215.72	PASS	PAX9	paired box 9	exonic	NM_006194	.	missense SNV	PAX9:NM_006194:exon4:c.G718C:p.A240P	ENST00000554201.1,ENST00000402703.2,ENST00000361487.6,ENST00000557107.1	CpG: 76	14q13.3	.	.	.	.	.	rs4904210	.	.	0.435216	0.4315	0.331669	0.3167	0.4325	0.5204	0.353751987749	0.394230939904	0.035,D	0.0,B	0.0,B	0.970841,P	0.005950,N	2.125,M	-5.28,D	12.5398	1.266	1.971	3.171949,22.7	3.38	AC=21;AN=36;BQB=0.960728;DP4=212,76,288,97;DP=916;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968069;SF=0,1,2,3,4,5,8,10,12,14,15,17,18,19,20,21,22,24;SGB=-0.662043;VDB=0.116373	GT:DP:DV:PL	0/1:25:9:240,0,255	1/1:41:41:255,123,0	0/1:54:28:255,0,255	0/1:43:21:255,0,255	0/1:33:12:255,0,255	0/1:35:16:255,0,255	.	.	0/1:36:22:255,0,255	.	0/1:49:28:255,0,255	.	0/1:40:22:255,0,255	.	0/1:38:18:255,0,255	0/1:33:15:255,0,255	.	0/1:25:7:145,0,255	1/1:32:32:255,96,0	0/1:41:19:255,0,255	0/1:50:24:255,0,255	1/1:47:47:255,141,0	0/1:19:9:250,0,255	.	0/1:32:15:255,0,255	G	C	3	15	Tooth agenesis, selective, 3, 604625 (3)	.	Oligodontia(CM0910170)	GCG-CCG|Ala240Pro|c.718G>C|p.A240P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20077892&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24238416&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19641755&dopt=Abstract)	20077892|24238416|19641755|19429910|17910065|16479262|16333316|16236760|15615874|14689302|14607846|14571272|12786960|12605438|11941488|11827258|11781684|11252173|10615120|9732271|8358169|7981748	.	.	.	.	.	.	.	PS1,PS3,BA1
L	14	54417522	rs17563	A	G	212.2	PASS	BMP4	bone morphogenetic protein 4	exonic	NM_001202,NM_130850,NM_130851	.	missense SNV	BMP4:NM_001202:exon4:c.T455C:p.V152A,BMP4:NM_130850:exon4:c.T455C:p.V152A,BMP4:NM_130851:exon4:c.T455C:p.V152A	ENST00000245451.4,ENST00000558984.1,ENST00000559087.1,ENST00000417573.1	.	14q22.2	.	.	.	.	.	rs17563	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000178157.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	Primary tooth development (time to first tooth eruption)	0.305648	0.2857	0.325679	0.4500	0.4570	0.2717	0.240428814701	0.27043284375	0.4,T	0.007,B	0.002,B	0.00133448,P	0.000032,N	1.2,L	-0.08,T	9.1323	0.993	5.066	.	4.05	AC=12;AN=20;BQB=0.709106;DP4=89,49,100,51;DP=389;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.917652;SF=2,7,12,14,15,16,17,19,20,22;SGB=-0.689466;VDB=0.399873	GT:DP:DV:PL	.	.	0/1:32:16:255,0,255	.	.	.	.	0/1:32:16:255,0,255	.	.	.	.	0/1:27:8:230,0,255	.	0/1:21:10:218,0,255	0/1:24:8:228,0,255	1/1:32:32:255,96,0	0/1:37:17:255,0,255	.	0/1:40:14:236,0,255	0/1:28:14:255,0,255	.	1/1:16:16:255,48,0	.	.	A	G	2	8	Microphthalmia, syndromic 6, 607932 (3); Orofacial cleft 11, 600625 (3)	23704328(9E-17)	Cutaneous melanoma, susceptibility to, association with(CM096386)	GTG-GCG|Val152Ala|c.455T>C|p.V152A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19557432&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23227324&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23079991&dopt=Abstract)	19557432|23227324|23079991|21340693|19759357|19556507|19249007|19229034|18701888|18252212|18202659|17696121|17425602|17325163|17151667|16916928|15716346|15466378|15210946|15017003|14960358|12975322|12925636|12552124|12379229|11336702|10999829|10603340|9851982|9804553|9701626|8678940|8678932|8645259|8339498|7558046|1970330	MUSCLE_DEVELOPMENT;POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;STRIATED_MUSCLE_DEVELOPMENT;MYOBLAST_DIFFERENTIATION;NEGATIVE_REGULATION_OF_CELL_CYCLE;SKELETAL_DEVELOPMENT;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;TISSUE_DEVELOPMENT;MUSCLE_CELL_DIFFERENTIATION;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_PHOSPHORYLATION;POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_CELL_DIFFERENTIATION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;SKELETAL_MUSCLE_DEVELOPMENT;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TISSUE_REMODELING;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_CELL_CYCLE	.	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BMPPATHWAY	BIOCARTA_ALK_PATHWAY	.	PS1,PS3,BA1
L	14	61924239	rs2230500	G	A	187.43	PASS	PRKCH	protein kinase C, eta	exonic	NM_006255	.	missense SNV	PRKCH:NM_006255:exon9:c.G1120A:p.V374I	ENST00000555082.1,ENST00000332981.5	.	14q23.1	.	.	.	.	.	rs2230500	CLINSIG=other;CLNDBN=Cerebral_infarction\x2c_susceptibility_to;CLNACC=RCV000005279.2;CLNDSDB=.;CLNDSDBID=.	.	0.265781	0.2688	0.0605032	0.0062	0.0295	0.2611	0.1937212634	0.230769305288	0.217,T	0.0,B	0.0,B	1,P	0.001891,N	0.465,N	-0.14,T	5.4941	0.458	2.112	1.417921,12.88	4.6	AC=16;AN=28;BQB=0.839185;DP4=113,29,157,20;DP=409;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999696;SF=2,6,7,9,11,12,13,16,17,20,21,22,23,24;SGB=-0.689466;VDB=0.593111	GT:DP:DV:PL	.	.	0/1:27:16:255,0,208	.	.	.	1/1:24:24:255,72,0	0/1:22:8:181,0,255	.	0/1:16:9:227,0,217	.	0/1:35:15:243,0,255	0/1:19:13:234,0,163	0/1:16:7:182,0,229	.	.	0/1:24:9:175,0,255	0/1:25:12:193,0,255	.	.	0/1:23:11:245,0,255	0/1:43:22:255,0,255	0/1:10:7:174,0,76	1/1:15:15:255,45,0	0/1:20:9:201,0,255	G	A	2	12	{Cerebral infarction, susceptibility to}, 601367 (3)	.	Cerebral infarction, association with(CM070246)	GTA-ATA|Val374Ile|c.1120G>A|p.V374I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17206144&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20602195&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18164711&dopt=Abstract)	17206144|20602195|18164711|17206144|12958323|10497222|1986216	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_TIGHT_JUNCTION	PID_ENDOTHELINPATHWAY;PID_TXA2PATHWAY;PID_NFAT_3PATHWAY	BIOCARTA_KERATINOCYTE_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	14	64560092	rs2781377	G	A	141.5	PASS	SYNE2	spectrin repeat containing, nuclear envelope 2	exonic	NM_015180,NM_182914	.	stopgain	SYNE2:NM_015180:exon61:c.G12002A:p.W4001X,SYNE2:NM_182914:exon61:c.G12002A:p.W4001X	ENST00000357395.3,ENST00000554584.1,ENST00000358025.3,ENST00000542956.1,ENST00000394768.2,ENST00000555002.1,ENST00000344113.4	.	14q23.2	.	.	.	.	.	rs2781377	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000118503.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.124585	0.123	0.122404	0.0767	0.0868	0.1139	0.0949465460949	0.114182890625	.	.	.	2.77834e-10,P	0.003031,N	.	.	8.1581	0.078	1.301	11.574502,37	.	AC=4;AN=8;BQB=0.976248;DP4=36,5,28,4;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.805456;SF=7,12,20,21;SGB=-0.616816;VDB=0.0389458	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:19:6:151,0,255	.	.	.	.	0/1:17:7:142,0,218	.	.	.	.	.	.	.	0/1:19:9:186,0,231	0/1:18:10:220,0,153	.	.	.	G	A	0	4	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)	.	Psoriasis, association with(CM152574)	TGG-TAG|Trp4001Term|c.12002G>A|p.W4001*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25854761&dopt=Abstract)	25854761|26066746|19874786|17761684|15843432|12408964|12118075|11792814|10878022	.	.	.	.	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	14	64882380	rs1950902	A	G	215.04	PASS	MTHFD1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	exonic	NM_005956	.	missense SNV	MTHFD1:NM_005956:exon6:c.A401G:p.K134R	ENST00000216605.8,ENST00000545908.1	.	14q23.3	.	.	Score=908;Name=V$STAT_01	.	Score=230;Name="1400704:Charlie24(DNA)"	rs1950902	.	.	0.649502	0.6448	0.823482	0.8315	0.8331	0.6744	0.519908321593	0.585336699519	0.564,T	0.017,B	0.009,B	6.39595e-07,P	0.000000,D	.	0.48,T	15.1283	2.032	8.821	3.343279,22.9	5.06	AC=38;AN=50;BQB=0.745495;DP4=78,60,262,224;DP=829;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.96323;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.586996	GT:DP:DV:PL	1/1:38:38:255,114,0	0/1:25:14:255,0,255	0/1:22:7:173,0,255	0/1:26:15:255,0,255	1/1:39:39:255,117,0	1/1:19:19:255,57,0	0/1:30:15:255,0,255	1/1:29:29:255,87,0	0/1:18:6:161,0,252	0/1:26:15:255,0,255	0/1:35:15:255,0,255	0/1:19:11:255,0,238	1/1:23:23:255,69,0	0/1:20:9:239,0,255	1/1:18:18:255,54,0	1/1:18:18:255,54,0	0/1:25:18:255,0,145	1/1:22:22:255,66,0	1/1:35:35:255,105,0	1/1:25:25:255,75,0	0/1:24:15:255,0,206	1/1:38:38:255,114,0	1/1:15:15:255,45,0	0/1:15:7:197,0,255	1/1:20:20:255,60,0	A	G	13	12	{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3); {Abruptio placentae, susceptibility to} (3)	.	Colorectal cancer, increased risk, association with(CM065321)	AGA-AAA|Arg134Lys|c.401G>A|p.R134K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17000706&dopt=Abstract)	17000706|18277167|17894836|16552426|16315005|15633187|12384833|9611072|7197058|5954919|5425237|4508320|3080748|3053686|2786332|2183217|2004782|1916813	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_CYCLIC_AMIDINES	KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	PS1,PS3,BA1
L	14	64908845	rs2236225	G	A	222.43	PASS	MTHFD1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	exonic	NM_005956	.	missense SNV	MTHFD1:NM_005956:exon20:c.G1958A:p.R653Q	ENST00000556640.1,ENST00000216605.8,ENST00000545908.1,ENST00000609125.1	.	14q23.3	.	.	Score=869;Name=V$CHOP_01	.	.	rs2236225	CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to;CLNACC=RCV000014603.2;CLNDSDB=.;CLNDSDBID=.	.	0.199336	0.1984	0.341853	0.3750	0.4354	0.2233	0.176110468606	0.187500399038	0.174,T	0.026,B	0.33,B	0.029394,P	0.000000,D	0.725,N	1.98,T	5.9329	2.941	5.251	3.547129,23.1	4.97	AC=15;AN=28;BQB=0.999864;DP4=227,159,261,170;DP=1076;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.985137;SF=0,2,5,6,7,8,9,11,12,17,18,20,21,23;SGB=-0.69311;VDB=0.209677	GT:DP:DV:PL	0/1:56:31:255,0,255	.	1/1:49:49:255,148,0	.	.	0/1:61:36:255,0,255	0/1:61:28:255,0,255	0/1:72:39:255,0,255	0/1:47:24:255,0,255	0/1:49:22:255,0,255	.	0/1:53:29:255,0,255	0/1:40:15:255,0,255	.	.	.	.	0/1:42:23:255,0,255	0/1:61:25:255,0,255	.	0/1:62:29:255,0,255	0/1:90:42:255,0,255	.	0/1:74:39:255,0,255	.	G	A	1	13	{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3); {Abruptio placentae, susceptibility to} (3)	.	Neural tube defect, association with(CM022820)	CGG-CAG|Arg653Gln|c.1958G>A|p.R653Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12384833&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21615938&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18767138&dopt=Abstract)	12384833|21615938|18767138|18277167|17894836|16552426|16315005|15633187|12384833|9611072|7197058|5954919|5425237|4508320|3080748|3053686|2786332|2183217|2004782|1916813	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_CYCLIC_AMIDINES	KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	PS1,PS3,BA1
L	14	81610583	rs1991517	G	C	227	PASS	TSHR	thyroid stimulating hormone receptor	exonic	NM_000369	.	missense SNV	TSHR:NM_000369:exon10:c.G2181C:p.E727D	ENST00000541158.2,ENST00000298171.2,ENST00000557775.1	.	14q31.1	.	.	.	.	.	rs1991517	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000122254.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.835548	0.8472	0.896765	0.9233	0.9004	0.8252	0.679938664625	0.749999887019	1.0,T	0.0,B	0.0,B	1,P	0.025179,N	.	-0.92,T	2.8773	0.675	-0.125	.	2.08	AC=44;AN=48;BQB=0.548064;DP4=58,38,453,406;DP=1308;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999962;SF=0,1,2,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693097;VDB=0.0400391	GT:DP:DV:PL	0/1:54:30:255,0,255	0/1:46:19:255,0,255	1/1:31:31:255,93,0	1/1:36:36:255,108,0	1/1:32:32:255,96,0	0/1:50:26:255,0,255	.	1/1:39:39:255,117,0	1/1:45:45:255,135,0	1/1:35:35:255,105,0	1/1:37:37:255,111,0	1/1:44:44:255,132,0	1/1:44:44:255,132,0	1/1:31:31:255,93,0	1/1:37:37:255,111,0	1/1:47:47:255,141,0	1/1:36:36:255,108,0	1/1:34:34:255,102,0	1/1:34:34:255,102,0	1/1:38:38:255,114,0	1/1:37:37:255,108,0	1/1:63:63:255,190,0	1/1:16:16:255,48,0	0/1:45:24:255,0,255	1/1:44:44:255,132,0	G	C	20	4	Hypothyroidism, congenital, nongoitrous, 1 275200 (3); Thyroid adenoma, hyperfunctioning, somatic (3); Hyperthyroidism, nonautoimmune, 609152 (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, familial gestational, 603373 (3)	.	Toxic multinodular goitre, association with(CM994612)	GAC-GAG|Asp727Glu|c.2181C>G|p.D727E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10487707&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17408423&dopt=Abstract)	10487707|24728327|17408423|20220755|17118994|16908863|16135555|16106256|15741259|14567913|12813025|12629076|12081236|12050212|11549687|11095460|10946859|10852462|10720030|10487707|10487692|10411112|10372728|10199795|10037069|9854118|9589691|9589634|9398746|9385128|9360556|9360555|9329388|9294132|9253356|9185526|9100579|9086566|9062474|8964822|8954020|8923467|8413627|8288218|8101586|7920658|7800007|7673398|7528344|7508946|7124278|2917966|2610690|2558651|2302212|2249847|2249482|2169649|1955520|1697467|1696008|1570295	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_AUTOIMMUNE_THYROID_DISEASE	PID_ARF6_TRAFFICKINGPATHWAY;PID_ARF6_PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_HORMONE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	14	88401213	rs421262	T	C	219.12	PASS	GALC	galactosylceramidase	exonic	NM_000153,NM_001201401,NM_001201402	.	missense SNV	GALC:NM_001201401:exon16:c.A1852G:p.T618A,GALC:NM_000153:exon17:c.A1921G:p.T641A,GALC:NM_001201402:exon17:c.A1843G:p.T615A	ENST00000261304.2,ENST00000393568.4,ENST00000393569.2,ENST00000544807.2	.	14q31.3	.	.	.	.	.	rs421262	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000078197.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.933555	0.9306	0.940695	0.9595	0.9828	0.9375	0.715160831547	0.840144314904	1.0,T	0.0,B	0.0,B	1,P	0.001643,N	.	-2.78,D	10.7809	-0.659	0.519	.	.	AC=48;AN=50;BQB=0.58787;DP4=12,15,236,291;DP=731;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992674;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=0.374041	GT:DP:DV:PL	1/1:21:21:255,63,0	1/1:24:24:255,72,0	1/1:15:15:255,45,0	1/1:20:20:255,60,0	1/1:20:20:255,60,0	1/1:32:32:255,96,0	1/1:26:26:255,78,0	1/1:24:24:255,72,0	1/1:23:23:255,69,0	1/1:23:23:255,69,0	1/1:20:20:255,60,0	1/1:22:22:255,66,0	1/1:16:16:255,48,0	1/1:17:17:255,51,0	0/1:16:4:93,0,255	1/1:19:19:255,57,0	0/1:22:7:209,0,255	1/1:18:18:255,54,0	1/1:23:23:255,69,0	1/1:26:26:255,78,0	1/1:30:30:255,90,0	1/1:36:36:255,108,0	1/1:11:11:255,33,0	1/1:27:27:255,81,0	1/1:23:23:255,69,0	T	C	23	2	Krabbe disease, 245200 (3)	.	Krabbe disease(CM950521)	GCC-ACC|Ala641Thr|c.1921G>A|p.A641T(oops.php|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24078576&dopt=Abstract)	20981092|24078576|21070211|20886637|16607461|9272171|9266397|9192853|8940268|8786069|8661004|8634707|8399327|8297359|8281145|8162701|7601472|7581365|7417782|6811701|4025402|2912067|1971996|414740	.	CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VACUOLE;LYSOSOME	.	KEGG_SPHINGOLIPID_METABOLISM;KEGG_LYSOSOME	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	14	88431969	rs74887188	T	C	199.29	PASS	GALC	galactosylceramidase	exonic	NM_000153,NM_001201401,NM_001201402	.	missense SNV	GALC:NM_001201401:exon8:c.A844G:p.I282V,GALC:NM_000153:exon9:c.A913G:p.I305V,GALC:NM_001201402:exon9:c.A835G:p.I279V	ENST00000261304.2,ENST00000393568.4,ENST00000393569.2,ENST00000544807.2	.	14q31.3	.	.	.	.	.	rs74887188	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000180466.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.089701	0.0883	0.0181709	0.0006	0.0080	0.0985	0.0742725650842	0.0889423040865	.	0.983,D	0.999,D	1,D	0.000000,D	3.135,M	-3.33,D	15.3757	2.326	7.661	5.186450,25.5	5.77	AC=7;AN=14;BQB=0.923099;DP4=18,47,31,54;DP=187;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.653027;SF=1,2,17,18,20,21,22;SGB=-0.676189;VDB=0.284215	GT:DP:DV:PL	.	0/1:23:11:255,0,232	0/1:25:18:255,0,193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:11:241,0,115	0/1:28:17:255,0,165	.	0/1:27:12:255,0,255	0/1:22:12:255,0,203	0/1:7:4:111,0,106	.	.	T	C	0	7	Krabbe disease, 245200 (3)	.	Krabbe disease, association with(CM973399)	ATC-GTC|Ile305Val|c.913A>G|p.I305V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9272171&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21228398&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24252386&dopt=Abstract)	9272171|21228398|24252386|21070211|20886637|16607461|9272171|9266397|9192853|8940268|8786069|8661004|8634707|8399327|8297359|8281145|8162701|7601472|7581365|7417782|6811701|4025402|2912067|1971996|414740	.	CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VACUOLE;LYSOSOME	.	KEGG_SPHINGOLIPID_METABOLISM;KEGG_LYSOSOME	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	14	94776221	rs2228541	A	C	227.24	PASS	SERPINA6	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	exonic	NM_001756	.	missense SNV	SERPINA6:NM_001756:exon3:c.T736G:p.S246A	ENST00000341584.3	.	14q32.13	.	.	Score=853;Name=V$RFX1_02	.	.	rs2228541	.	.	0.935216	0.9325	0.598043	0.4306	0.5247	0.9322	0.74042901072	0.836538536058	0.061,T	0.01,B	0.001,B	1,P	0.630684,N	1.38,L	-2.32,D	0.3477	-1.670	-4.327	.	.	AC=47;AN=50;BQB=0.59016;DP4=59,42,996,443;DP=2147;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.918496;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0111268	GT:DP:DV:PL	1/1:58:58:255,175,0	1/1:50:50:255,151,0	0/1:58:30:255,0,255	1/1:68:68:255,205,0	1/1:57:57:255,172,0	1/1:86:86:255,255,0	1/1:53:53:255,160,0	1/1:75:75:255,226,0	1/1:63:63:255,190,0	1/1:45:45:255,135,0	1/1:67:67:255,202,0	1/1:67:67:255,202,0	1/1:55:55:255,166,0	1/1:64:64:255,193,0	1/1:52:52:255,157,0	1/1:50:50:255,151,0	0/1:72:46:255,0,255	1/1:40:40:255,120,0	1/1:65:65:255,196,0	1/1:54:54:255,163,0	1/1:70:70:255,211,0	0/1:92:45:255,0,255	1/1:32:32:255,96,0	1/1:68:68:255,205,0	1/1:79:79:255,238,0	A	C	22	3	Corticosteroid-binding globulin deficiency, 611489 (3)	.	Higher CBG levels(CM045664)	GCG-TCG|Ala246Ser|c.736G>T|p.A246S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15554358&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1504007&dopt=Abstract)	15554358|1504007|17245537|12780753|11502797|10634411|9383284|8212073|7912884|7061486|3299377|2608068|2253941	.	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	14	94849201	rs709932	C	T	222	PASS	SERPINA1	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	exonic	NM_000295,NM_001002235,NM_001002236,NM_001127700,NM_001127701,NM_001127702,NM_001127703,NM_001127704,NM_001127705,NM_001127706,NM_001127707	.	missense SNV	SERPINA1:NM_000295:exon2:c.G374A:p.R125H,SERPINA1:NM_001002235:exon2:c.G374A:p.R125H,SERPINA1:NM_001127700:exon2:c.G374A:p.R125H,SERPINA1:NM_001127702:exon3:c.G374A:p.R125H,SERPINA1:NM_001127706:exon3:c.G374A:p.R125H,SERPINA1:NM_001127707:exon3:c.G374A:p.R125H,SERPINA1:NM_001002236:exon4:c.G374A:p.R125H,SERPINA1:NM_001127701:exon4:c.G374A:p.R125H,SERPINA1:NM_001127703:exon4:c.G374A:p.R125H,SERPINA1:NM_001127704:exon4:c.G374A:p.R125H,SERPINA1:NM_001127705:exon4:c.G374A:p.R125H	ENST00000440909.1,ENST00000402629.1,ENST00000448921.1,ENST00000404814.4,ENST00000437397.1,ENST00000393087.4,ENST00000355814.4,ENST00000449399.3,ENST00000393088.4	.	14q32.13	.	.	.	.	.	rs709932	CLINSIG=other|other|Benign;CLNDBN=PI_M2|PI_M4|not_specified;CLNACC=RCV000019557.1|RCV000019559.1|RCV000155576.1;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|CN169374	.	0.215947	0.2282	0.160543	0.1216	0.1631	0.2041	0.1477795317	0.192307865385	0.848,T	0.001,B	0.0,B	1,P	0.624379,N	-1.17,N	-1.77,D	7.3598	-0.129	-0.755	.	.	AC=11;AN=22;BQB=0.999976;DP4=233,143,216,138;DP=952;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.665031;SF=0,4,5,7,9,13,16,18,20,22,23;SGB=-0.693079;VDB=0.91314	GT:DP:DV:PL	0/1:63:29:255,0,255	.	.	.	0/1:68:33:255,0,255	0/1:101:47:255,0,255	.	0/1:74:33:255,0,255	.	0/1:51:28:255,0,255	.	.	.	0/1:74:35:255,0,255	.	.	0/1:63:35:255,0,255	.	0/1:64:31:255,0,255	.	0/1:65:29:255,0,255	.	0/1:41:20:255,0,255	0/1:66:34:255,0,255	.	C	T	0	11	Emphysema due to AAT deficiency, 613490 (3); Emphysema-cirrhosis, due to AAT deficiency, 613490 (3); Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, 613490 (3); {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)	.	Antitrypsin M2 variant(CM900182)	CGT-CAT|Arg125His|c.374G>A|p.R125H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2339709&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14551891&dopt=Abstract)	2339709|20981092|14551891|20522742|19738092|19398551|18294358|17948551|17448989|16432201|16365039|16278826|14229909|12933574|12588861|12220457|11884757|11846735|11149899|9692092|8499914|8441253|8381582|8364590|8364536|8358043|8182727|7977369|7706910|7227484|7045697|7031661|6982619|6982218|6976926|6973024|6972696|6971248|6967446|6965658|6804874|6801664|6797346|6792288|6604220|6602546|6600583|6335371|6247908|6168185|6093867|6080804|5827347|5699691|5681806|5366282|5073686|4911922|4166396|4158556|3876766|3875547|3537008|3527273|3500042|3491072|3490426|3485249|3484756|3484755|3484754|3264419|3262617|3259232|3257661|3257351|3040726|3038256|2989709|2904702|2901833|2901226|2890296|2807278|2788166|2787118|2786335|2784123|2696185|2606478|2575668|2567291|2543620|2539391|2394452|2390072|2382967|2339709|2316526|2309708|2254451|2240842|2227940|2185272|2035534|1975477|1969347|1967187|1783408|1673114|1601424|1569192|1556183|1552539|1504305|1087161|1083527|1082356|1079112|810069|412531|315709|315708|314754|313312|311585|311584|310370|309724|301355|112033	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_P73PATHWAY;PID_HNF3APATHWAY	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	14	95080803	rs4934	G	A	218.46	PASS	SERPINA3	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	exonic	NM_001085	.	missense SNV	SERPINA3:NM_001085:exon2:c.G25A:p.A9T	ENST00000553947.1,ENST00000467132.1,ENST00000393078.3,ENST00000393080.4	.	14q32.13	.	.	.	.	.	rs4934	CLINSIG=Benign;CLNDBN=ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM;CLNACC=RCV000019667.2;CLNDSDB=.;CLNDSDBID=.	.	0.641196	0.62	0.399361	0.4022	0.4480	0.6102	0.490045690658	0.574519221154	0.068,T	0.135,B	0.297,B	1,P	0.441646,N	1.4,L	-2.26,D	0.7578	-0.020	-0.060	.	.	AC=33;AN=48;BQB=0.915014;DP4=286,54,576,99;DP=1317;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.909523;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23,24;SGB=-0.69168;VDB=0.402629	GT:DP:DV:PL	0/1:39:19:232,0,255	0/1:29:10:255,0,236	1/1:28:28:255,84,0	1/1:32:32:255,96,0	1/1:44:44:255,132,0	0/1:54:21:255,0,255	1/1:39:39:255,117,0	0/1:47:20:255,0,255	0/1:39:16:209,0,255	0/1:33:21:255,0,225	0/1:44:19:255,0,255	0/1:38:23:255,0,255	0/1:31:9:186,0,255	1/1:64:64:255,193,0	0/1:44:24:255,0,255	.	1/1:40:40:255,120,0	0/1:30:17:255,0,255	1/1:37:37:255,111,0	0/1:61:31:255,0,255	1/1:42:42:255,126,0	0/1:65:40:255,0,255	1/1:31:31:255,93,0	0/1:59:27:255,0,255	0/1:45:21:255,0,255	G	A	9	15	Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular disease, occlusive (3)	.	Alzheimer disease, association with(CM950001)	GCT-ACT|Ala9Thr|c.25G>A|p.A9T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7670501&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22246292&dopt=Abstract)	7670501|22246292|16278826|14668352|11941486|11702211|11289720|9932947|9219874|9040504|9003488|8617509|8244391|8102759|7670501|6606438|3492865|3485824|3260956|1973140|1618300|1351206|1339400	.	NUCLEUS	DNA_BINDING	.	.	.	.	PS1,PS3,BA1
L	14	100625902	rs7157599	C	T	226.17	PASS	DEGS2	delta(4)-desaturase, sphingolipid 2	exonic	NM_206918	.	missense SNV	DEGS2:NM_206918:exon1:c.G23A:p.S8N	ENST00000553834.1,ENST00000305631.5	CpG: 133	14q32.2	.	.	Score=709;Name=V$LUN1_01	.	.	rs7157599	.	Sudden cardiac arrest	0.712625	0.7282	0.767173	0.7916	0.7375	0.7943	0.554364614089	0.655048425481	0.259,T	0.001,B	0.0,B	0.999991,P	0.594331,N	0.28,N	1.03,T	5.1779	-0.209	-0.317	1.070297,11.05	.	AC=39;AN=46;BQB=0.803082;DP4=144,98,611,450;DP=1894;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.752954;SF=0,1,2,3,4,5,6,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.0114029	GT:DP:DV:PL	1/1:42:42:255,123,0	0/1:56:24:255,0,255	1/1:65:65:255,196,0	0/1:60:23:255,0,255	1/1:46:46:255,138,0	1/1:100:100:255,255,0	0/1:33:16:255,0,255	.	1/1:33:33:255,99,0	1/1:33:33:255,99,0	1/1:56:56:255,169,0	1/1:44:44:255,132,0	.	0/1:103:46:255,0,255	1/1:69:69:255,208,0	1/1:46:46:255,135,0	0/1:54:29:255,0,255	1/1:41:41:255,123,0	1/1:45:45:255,132,0	0/1:69:34:255,0,255	1/1:55:55:255,166,0	1/1:83:83:255,250,0	1/1:29:29:255,87,0	0/1:78:39:255,0,255	1/1:63:63:255,190,0	C	T	16	7	Delta(4)-desaturase, sphingolipid, 2	21658281(1E-7)	Sudden cardiac arrest, in coronary artery disease, association with(CM1111817)	AGC-AAC|Ser8Asn|c.23G>A|p.S8N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21658281&dopt=Abstract)	21658281|15063729	.	.	.	KEGG_SPHINGOLIPID_METABOLISM	.	.	REACTOME_SPHINGOLIPID_DE_NOVO_BIOSYNTHESIS;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	14	105239894	rs1130233	C	T	209.72	PASS	AKT1	v-akt murine thymoma viral oncogene homolog 1	exonic	NM_001014431,NM_001014432,NM_005163	.	synonymous SNV	AKT1:NM_001014431:exon9:c.G726A:p.E242E,AKT1:NM_005163:exon9:c.G726A:p.E242E,AKT1:NM_001014432:exon10:c.G726A:p.E242E	ENST00000554848.1,ENST00000554581.1,ENST00000555528.1,ENST00000407796.2,ENST00000402615.2,ENST00000544168.1,ENST00000349310.3	.	14q32.33	.	.	.	.	.	rs1130233	.	.	0.61794	0.6002	0.322484	0.2016	0.3141	0.5872	0.61794	0.556490192308	.	.	.	.	.	.	.	.	2.198	1.117	1.420865,12.90	4.78	AC=22;AN=36;BQB=0.109983;DP4=89,184,135,247;DP=882;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.808185;SF=0,1,2,3,4,5,6,7,8,9,10,11,15,16,17,20,21,23;SGB=-0.692831;VDB=0.0699764	GT:DP:DV:PL	1/1:24:24:255,72,0	0/1:36:20:255,0,255	0/1:26:9:145,0,255	0/1:41:18:255,0,255	0/1:33:17:255,0,255	0/1:69:32:255,0,255	0/1:32:17:255,0,246	0/1:43:21:255,0,255	1/1:26:26:255,78,0	0/1:20:6:123,0,240	0/1:45:25:255,0,255	0/1:32:17:255,0,255	.	.	.	1/1:30:30:255,90,0	1/1:39:39:255,117,0	0/1:24:13:254,0,234	.	.	0/1:38:16:255,0,255	0/1:55:31:255,0,255	.	0/1:42:21:255,0,255	.	C	T	4	14	Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic, 114500 (3); Ovarian cancer, somatic, 167000 (3); {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920 (3); Cowden syndrome 6, 615109 (3)	.	Schizophrenia, familial, association with(CM081515)	GAG-GAA|Glu242Glu|c.726G>A|p.E242E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18497887&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20520724&dopt=Abstract)	18497887|20520724|25339666|24670654|23246288|23112296|21793738|19713527|18046412|17611497|17077150|16962653|16778075|16680151|16227992|16224021|16142243|16075056|16026766|15718470|15136501|15084260|15029198|14985374|14745448|14730361|13129932|12910262|12782654|12244303|12244302|12244301|12237475|12172554|12172553|12086620|12062094|11956222|11598301|11583630|11544177|11257494|11159942|10802656|10698680|10485711|10485710|10376603|10376602|10102273|9931326|9823298|9019819|9005852|9005851|8437858|7774014|3384441|3037531|3033033|1851997	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEAR_IMPORT;PROTEIN_AUTOPROCESSING;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CELL_DEVELOPMENT;INSULIN_RECEPTOR_SIGNALING_PATHWAY;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;PROTEIN_IMPORT;RESPONSE_TO_HEAT;CELLULAR_BIOSYNTHETIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;RESPONSE_TO_STRESS;PROTEIN_IMPORT_INTO_NUCLEUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;RESPONSE_TO_TEMPERATURE_STIMULUS;CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;HOMEOSTASIS_OF_NUMBER_OF_CELLS;MACROMOLECULE_LOCALIZATION;BIOPOLYMER_MODIFICATION;TRANSPORT;HOMEOSTATIC_PROCESS;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;IMMUNE_SYSTEM_PROCESS;CELLULAR_LOCALIZATION;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;NITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_TRANSPORT;PHOSPHORYLATION;PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;PROTEIN_LOCALIZATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;INTRACELLULAR_SIGNALING_CASCADE;APOPTOSIS_GO;NUCLEOCYTOPLASMIC_TRANSPORT	MEMBRANE;CYTOPLASM;PLASMA_MEMBRANE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_MTOR_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_TIGHT_JUNCTION;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_FCER1PATHWAY;PID_ENDOTHELINPATHWAY;PID_BCR_5PATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_INSULIN_PATHWAY;PID_IL4_2PATHWAY;PID_TCR_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_CD40_PATHWAY;PID_MET_PATHWAY;PID_PTP1BPATHWAY;PID_S1P_S1P3_PATHWAY;PID_AR_PATHWAY;PID_REELINPATHWAY;PID_ILK_PATHWAY;PID_CD8TCRPATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_FASPATHWAY;PID_TXA2PATHWAY;PID_TELOMERASEPATHWAY;PID_HNF3BPATHWAY;PID_REG_GR_PATHWAY;PID_MTOR_4PATHWAY;PID_CXCR4_PATHWAY;PID_IGF1_PATHWAY;PID_FOXOPATHWAY;PID_IL2_PI3KPATHWAY;PID_CERAMIDE_PATHWAY;PID_P75NTRPATHWAY;PID_ECADHERIN_NASCENTAJ_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_IFNGPATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_ERBB2ERBB3PATHWAY;PID_IL6_7PATHWAY;PID_ECADHERIN_KERATINOCYTE_PATHWAY;PID_NEPHRIN_NEPH1_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_IL8CXCR2_PATHWAY;PID_HEDGEHOG_2PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_HEDGEHOG_GLIPATHWAY;PID_CXCR3PATHWAY;PID_VEGFR1_PATHWAY;PID_KITPATHWAY;PID_VEGFR1_2_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_AURORA_A_PATHWAY;PID_INSULIN_GLUCOSE_PATHWAY;PID_PI3KCIAKTPATHWAY;PID_IL8CXCR1_PATHWAY;PID_HIF1_TFPATHWAY;PID_P53REGULATIONPATHWAY;PID_PI3KPLCTRKPATHWAY;PID_LYMPHANGIOGENESIS_PATHWAY;PID_FGF_PATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_AKT_PATHWAY;BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_BCELLSURVIVAL_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_HCMV_PATHWAY;BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_IL4_PATHWAY;BIOCARTA_IL2RB_PATHWAY;BIOCARTA_GSK3_PATHWAY;BIOCARTA_RACCYCD_PATHWAY;BIOCARTA_GLEEVEC_PATHWAY;BIOCARTA_MTOR_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_PTDINS_PATHWAY;BIOCARTA_EDG1_PATHWAY;BIOCARTA_PTEN_PATHWAY;BIOCARTA_RAS_PATHWAY;BIOCARTA_BAD_PATHWAY;BIOCARTA_EIF4_PATHWAY;BIOCARTA_ERK5_PATHWAY;BIOCARTA_ACH_PATHWAY;BIOCARTA_IGF1MTOR_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY;BIOCARTA_CREB_PATHWAY;BIOCARTA_TFF_PATHWAY;BIOCARTA_TRKA_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TETRAHYDROBIOPTERIN_BH4_SYNTHESIS_RECYCLING_SALVAGE_AND_REGULATION;REACTOME_SIGNALING_BY_ERBB4;REACTOME_DOWNREGULATION_OF_ERBB2_ERBB3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_ENOS_ACTIVATION_AND_REGULATION;REACTOME_NEGATIVE_REGULATION_OF_THE_PI3K_AKT_NETWORK;REACTOME_PI3K_AKT_ACTIVATION;REACTOME_AKT_PHOSPHORYLATES_TARGETS_IN_THE_CYTOSOL;REACTOME_GAB1_SIGNALOSOME;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT;REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_SIGNALING_BY_PDGF;REACTOME_GPVI_MEDIATED_ACTIVATION_CASCADE;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_CD28_CO_STIMULATION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA;REACTOME_COSTIMULATION_BY_THE_CD28_FAMILY;REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING;REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING;REACTOME_CTLA4_INHIBITORY_SIGNALING;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_DESTABILIZATION_OF_MRNA_BY_BRF1;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_KSRP;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_APOPTOSIS;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ACTIVATION_OF_BH3_ONLY_PROTEINS;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PIP3_ACTIVATES_AKT_SIGNALING;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_INTRINSIC_PATHWAY_FOR_APOPTOSIS	PS1,PS3,BA1
L	15	45392075	rs269868	G	A	227.28	PASS	DUOX2	dual oxidase 2	exonic	NM_014080	.	missense SNV	DUOX2:NM_014080:exon25:c.C3200T:p.S1067L	ENST00000389039.6,ENST00000603300.1	.	15q21.1	.	.	.	.	.	rs269868	.	.	0.953488	0.9514	0.720248	0.7027	0.8644	0.9425	0.746554045942	0.850961353365	0.043,D	0.02,B	0.025,B	1.54671e-07,P	0.000001,D	2.365,M	.	18.6061	2.653	7.938	3.385501,23.0	5.6	AC=47;AN=50;BQB=0.39337;DP4=74,45,746,631;DP=1957;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.891661;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.148298	GT:DP:DV:PL	1/1:44:44:255,132,0	1/1:56:56:255,169,0	1/1:60:60:255,181,0	1/1:58:58:255,175,0	1/1:67:67:255,202,0	1/1:81:81:255,244,0	1/1:53:53:255,160,0	1/1:71:71:255,214,0	1/1:47:47:255,141,0	1/1:52:52:255,157,0	1/1:50:50:255,151,0	0/1:58:25:255,0,255	1/1:54:54:255,163,0	1/1:79:79:255,238,0	1/1:55:55:255,166,0	1/1:59:59:255,178,0	0/1:60:23:255,0,255	1/1:40:40:255,120,0	1/1:63:63:255,190,0	1/1:73:73:255,220,0	1/1:58:58:255,175,0	0/1:110:61:255,0,255	1/1:32:32:255,96,0	1/1:51:51:255,154,0	1/1:65:65:255,196,0	G	A	22	3	Thryoid dyshormonogenesis 6, 607200 (3)	.	Hypothyroidism, transient(CM085371)	TTG-TCG|Leu1067Ser|c.3200T>C|p.L1067S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18765513&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24423310&dopt=Abstract)	18765513|20981092|24423310|19494811|16651268|16134168|12110737|11762710|11443211|10806195|10601291	RESPONSE_TO_VIRUS;MULTI_ORGANISM_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOKINE_AND_CHEMOKINE_MEDIATED_SIGNALING_PATHWAY;RESPONSE_TO_ORGANIC_SUBSTANCE	.	CATION_BINDING;CALCIUM_ION_BINDING;OXIDOREDUCTASE_ACTIVITY;ION_BINDING;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH	.	.	.	.	PS1,PS3,BA1
L	15	48426484	rs1426654	A	G	227.72	PASS	SLC24A5	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	exonic	NM_205850	.	missense SNV	SLC24A5:NM_205850:exon3:c.A331G:p.T111A	ENST00000449382.2,ENST00000341459.3	.	15q21.1	.	.	.	.	.	rs1426654	CLINSIG=other;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_4;CLNACC=RCV000001552.3;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C2676042:113750:370097	Body mass index	0.983389	0.9881	0.5623	0.2640	0.2283	0.9917	0.776416773354	0.885817581731	1.0,T	0.0,B	0.0,B	0.997928,P	0.000000,N	-3.6,N	0.1,T	14.8111	1.604	7.461	1.066558,11.03	5.55	AC=49;AN=50;BQB=1;DP4=13,14,558,236;DP=1134;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693145;VDB=0.898567	GT:DP:DV:PL	1/1:40:40:255,120,0	1/1:28:28:255,84,0	1/1:35:35:255,105,0	1/1:32:31:255,59,0	1/1:34:34:255,102,0	0/1:37:12:255,0,255	1/1:37:37:255,111,0	1/1:25:25:255,75,0	1/1:30:30:255,90,0	1/1:33:33:255,99,0	1/1:31:31:255,93,0	1/1:42:42:255,126,0	1/1:19:19:255,57,0	1/1:28:27:255,47,0	1/1:26:26:255,78,0	1/1:37:37:255,111,0	1/1:37:37:255,111,0	1/1:16:16:255,48,0	1/1:35:35:255,105,0	1/1:29:29:255,87,0	1/1:40:40:255,120,0	1/1:52:52:255,157,0	1/1:16:16:255,48,0	1/1:34:34:255,102,0	1/1:48:48:255,144,0	A	G	24	1	[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3); Albinism, oculocutaneous, type VI, 113750 (3)	.	Increased skin pigmentation, association with(CM054862)	ACA-GCA|Thr111Ala|c.331A>G|p.T111A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16357253&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24244186&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18650849&dopt=Abstract)	16357253|24244186|18650849|23364476|23010199|22726845|17999355|17943131|16357253|14770312	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	PS1,PS3,BA1
L	15	48779402	rs11853943	C	T	221.27	PASS	FBN1	fibrillin 1	splicing	NM_000138	NM_000138:exon29:c.3464-5G>A	.	.	ENST00000316623.5	.	15q21.1	.	.	.	.	.	rs11853943	CLINSIG=Benign|Benign;CLNDBN=Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified;CLNACC=RCV000125004.2|RCV000154234.2;CLNDSDB=MedGen:Orphanet|MedGen;CLNDSDBID=CN118826:ORPHA91387|CN169374	.	0.33887	0.3512	0.196486	0.1487	0.1709	0.3522	0.260336805513	0.318509194712	.	.	.	.	.	.	.	.	-0.617	-0.471	.	.	AC=16;AN=30;BQB=0.0928505;DP4=191,89,190,80;DP=760;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.303723;SF=2,3,4,5,6,7,8,9,10,11,12,20,22,23,24;SGB=-0.692352;VDB=0.0475013	GT:DP:DV:PL	.	.	0/1:40:21:255,0,255	0/1:37:16:255,0,255	0/1:40:19:255,0,255	0/1:56:24:255,0,255	0/1:32:15:255,0,255	0/1:37:16:255,0,255	0/1:45:21:255,0,255	0/1:32:17:255,0,255	0/1:39:17:255,0,255	0/1:35:16:255,0,255	0/1:30:14:255,0,255	.	.	.	.	.	.	.	1/1:29:29:255,87,0	.	0/1:18:9:238,0,225	0/1:29:17:255,0,255	0/1:51:19:255,0,255	C	T	1	14	Marfan syndrome, 154700 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Aortic aneurysm, ascending, and dissection (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3)	.	Marfan syndrome features(CS145757)	IVS27 as G-A -5|c.3464-5G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24793577&dopt=Abstract)	24793577|24531548|24107997|23278365|23023332|22539873|21683322|21594993|21594992|21063442|20979188|20564469|20375004|20082464|19940141|19353630|19293843|19059503|19002209|18435798|18412115|17701892|17657824|17568394|17523150|17492313|17366579|17324963|16617303|16596670|16333834|16220557|15598221|15546004|15517394|15287423|15254584|15254580|15241795|15054843|15032979|12938084|12915484|12610545|12598898|12525539|12524050|12446365|12399449|12384286|12203992|12203987|12130535|12130534|12068374|12045259|11933199|11826022|11702223|11700157|11278305|11175294|11170092|10942427|10931876|10766875|10756346|10721679|10633129|10486319|10441597|10425041|10359653|10036187|9837823|9817919|9490728|9401003|9399842|9338588|9338581|9326947|9241263|9150726|9101298|9097954|9016526|8988160|8968747|8941093|8894692|8750301|8723723|8723076|8653794|8594563|8563763|8541880|8504310|8430317|8428751|8406497|8364578|8339542|8307578|8281141|8188302|8136837|8114867|8111131|8101042|8071963|8058758|8040326|8040255|7959775|7911051|7902327|7860770|7842017|7802039|7762551|7744963|7738200|7691719|7633409|7611299|7585183|7359004|3536967|2739055|2427016|2194127|1860873|1852208|1852207|1852206|1769651|1729284|1718459|1631074|1569206|1301946|1301195|176891	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;HEART_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_INTEGRIN5_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	15	48779530	rs140598	G	C	214	PASS	FBN1	fibrillin 1	exonic	NM_000138	.	missense SNV	FBN1:NM_000138:exon28:c.C3442G:p.P1148A	ENST00000316623.5	.	15q21.1	.	.	.	.	.	rs140598	CLINSIG=Benign|Benign|Benign|Benign;CLNDBN=Marfan_syndrome|FNB1_POLYMORPHISM|not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNACC=RCV000029726.1|RCV000030812.2|RCV000035172.3|RCV000126384.2;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT|.|MedGen|MedGen:Orphanet;CLNDSDBID=C0024796:154700:ORPHA558:19346006|.|CN169374|CN118826:ORPHA91387	.	0.227575	0.2292	0.0597045	0.0036	0.0288	0.2427	0.193721548239	0.222356045673	0.3,T	0.011,B	0.002,B	6.74796e-05,P	0.000000,D	0.8,N	-2.89,D	19.2077	2.639	1.994	3.171250,22.7	5.6	AC=13;AN=24;BQB=0.462352;DP4=125,78,152,81;DP=590;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999851;SF=2,3,4,5,6,8,9,10,12,20,22,23;SGB=-0.689466;VDB=0.0922111	GT:DP:DV:PL	.	.	0/1:34:16:255,0,255	0/1:42:17:255,0,255	0/1:45:17:255,0,255	0/1:54:26:255,0,255	0/1:22:12:255,0,220	.	0/1:50:25:255,0,255	0/1:34:20:255,0,255	0/1:51:30:255,0,255	.	0/1:24:14:255,0,225	.	.	.	.	.	.	.	1/1:31:31:255,93,0	.	0/1:11:5:153,0,182	0/1:38:20:255,0,255	.	G	C	1	11	Marfan syndrome, 154700 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Aortic aneurysm, ascending, and dissection (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3)	.	Bicuspid aortic valve(HM0656)	CCC-GCC|Pro1148Ala|c.3442C>G|p.P1148A(http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0340-6717|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11875032&dopt=Abstract)	20981092|11875032|24531548|24107997|23278365|23023332|22539873|21683322|21594993|21594992|21063442|20979188|20564469|20375004|20082464|19940141|19353630|19293843|19059503|19002209|18435798|18412115|17701892|17657824|17568394|17523150|17492313|17366579|17324963|16617303|16596670|16333834|16220557|15598221|15546004|15517394|15287423|15254584|15254580|15241795|15054843|15032979|12938084|12915484|12610545|12598898|12525539|12524050|12446365|12399449|12384286|12203992|12203987|12130535|12130534|12068374|12045259|11933199|11826022|11702223|11700157|11278305|11175294|11170092|10942427|10931876|10766875|10756346|10721679|10633129|10486319|10441597|10425041|10359653|10036187|9837823|9817919|9490728|9401003|9399842|9338588|9338581|9326947|9241263|9150726|9101298|9097954|9016526|8988160|8968747|8941093|8894692|8750301|8723723|8723076|8653794|8594563|8563763|8541880|8504310|8430317|8428751|8406497|8364578|8339542|8307578|8281141|8188302|8136837|8114867|8111131|8101042|8071963|8058758|8040326|8040255|7959775|7911051|7902327|7860770|7842017|7802039|7762551|7744963|7738200|7691719|7633409|7611299|7585183|7359004|3536967|2739055|2427016|2194127|1860873|1852208|1852207|1852206|1769651|1729284|1718459|1631074|1569206|1301946|1301195|176891	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;HEART_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_INTEGRIN5_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	15	48797307	rs25458	A	G	209.33	PASS	FBN1	fibrillin 1	exonic	NM_000138	.	synonymous SNV	FBN1:NM_000138:exon16:c.T1875C:p.N625N	ENST00000316623.5	.	15q21.1	.	.	Score=820;Name=V$OCT1_04	.	.	rs25458	CLINSIG=Benign|Benign;CLNDBN=not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection;CLNACC=RCV000035131.3|RCV000124994.2;CLNDSDB=MedGen|MedGen:Orphanet;CLNDSDBID=CN169374|CN118826:ORPHA91387	.	0.340532	0.3522	0.296925	0.2444	0.2006	0.3527	0.279479675345	0.317308081731	.	.	.	.	.	.	.	.	-0.559	-0.103	.	.	AC=16;AN=30;BQB=0.780561;DP4=125,103,106,99;DP=589;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.16022;SF=2,3,4,5,6,7,8,9,10,11,12,20,22,23,24;SGB=-0.670168;VDB=0.602433	GT:DP:DV:PL	.	.	0/1:30:10:212,0,255	0/1:30:11:255,0,255	0/1:31:16:255,0,255	0/1:33:15:255,0,255	0/1:36:14:255,0,255	0/1:30:12:195,0,255	0/1:25:15:255,0,253	0/1:22:8:212,0,255	0/1:26:11:255,0,255	0/1:27:13:255,0,255	0/1:22:11:255,0,251	.	.	.	.	.	.	.	1/1:24:24:255,72,0	.	0/1:24:8:207,0,255	0/1:35:16:255,0,255	0/1:38:21:255,0,255	A	G	1	14	Marfan syndrome, 154700 (3); Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Aortic aneurysm, ascending, and dissection (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3)	.	Tall stature, association with(CM070116)	AAT-AAC|Asn625Asn|c.1875T>C|p.N625N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17024364&dopt=Abstract)	17024364|24531548|24107997|23278365|23023332|22539873|21683322|21594993|21594992|21063442|20979188|20564469|20375004|20082464|19940141|19353630|19293843|19059503|19002209|18435798|18412115|17701892|17657824|17568394|17523150|17492313|17366579|17324963|16617303|16596670|16333834|16220557|15598221|15546004|15517394|15287423|15254584|15254580|15241795|15054843|15032979|12938084|12915484|12610545|12598898|12525539|12524050|12446365|12399449|12384286|12203992|12203987|12130535|12130534|12068374|12045259|11933199|11826022|11702223|11700157|11278305|11175294|11170092|10942427|10931876|10766875|10756346|10721679|10633129|10486319|10441597|10425041|10359653|10036187|9837823|9817919|9490728|9401003|9399842|9338588|9338581|9326947|9241263|9150726|9101298|9097954|9016526|8988160|8968747|8941093|8894692|8750301|8723723|8723076|8653794|8594563|8563763|8541880|8504310|8430317|8428751|8406497|8364578|8339542|8307578|8281141|8188302|8136837|8114867|8111131|8101042|8071963|8058758|8040326|8040255|7959775|7911051|7902327|7860770|7842017|7802039|7762551|7744963|7738200|7691719|7633409|7611299|7585183|7359004|3536967|2739055|2427016|2194127|1860873|1852208|1852207|1852206|1769651|1729284|1718459|1631074|1569206|1301946|1301195|176891	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;HEART_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_INTEGRIN5_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	PS1,PS3,BA1
L	15	51529112	rs700518	T	C	202.06	PASS	CYP19A1	cytochrome P450, family 19, subfamily A, polypeptide 1	exonic	NM_000103,NM_031226	.	synonymous SNV	CYP19A1:NM_000103:exon3:c.A240G:p.V80V,CYP19A1:NM_031226:exon4:c.A240G:p.V80V	ENST00000557858.1,ENST00000396402.1,ENST00000405913.3,ENST00000260433.2,ENST00000559878.1,ENST00000559909.1,ENST00000396404.4	.	15q21.2	.	.	Score=810;Name=V$CDPCR3_01	.	.	rs700518	.	.	0.458472	0.4385	0.325879	0.4046	0.4253	0.4349	0.374425935681	0.414663634615	.	.	.	.	.	.	.	.	0.417	0.208	.	4.07	AC=24;AN=36;BQB=0.854821;DP4=130,35,235,82;DP=679;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.782628;SF=0,1,3,4,5,6,7,9,12,13,15,16,17,19,20,21,22,23;SGB=-0.616816;VDB=0.831298	GT:DP:DV:PL	0/1:23:6:152,0,255	0/1:25:15:255,0,255	.	0/1:25:16:255,0,217	0/1:31:8:147,0,255	1/1:36:36:255,108,0	0/1:25:17:255,0,166	1/1:29:29:255,87,0	.	0/1:21:9:228,0,255	.	.	1/1:17:17:255,51,0	0/1:33:11:255,0,255	.	0/1:29:12:255,0,255	0/1:29:17:255,0,250	0/1:17:7:173,0,255	.	1/1:25:25:255,75,0	1/1:28:28:255,84,0	0/1:39:22:255,0,255	0/1:14:7:185,0,148	1/1:36:35:255,71,0	.	T	C	6	12	Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300 (3)	.	Increased cortical bone mass density, association with(CM068495)	GTA-GTG|Val80Val|c.240A>G|p.V80V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16418790&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19419293&dopt=Abstract)	16418790|20981092|19419293|19129847|18182446|17341559|17325027|17164303|17118999|16895991|16365303|15811932|15687328|15181061|14715870|14715828|12944421|12843146|12736278|12466340|12351690|12107254|12050211|11994385|11889205|11600509|11549641|11427738|11341336|11070087|11070086|10566648|10393934|10027313|9718379|9618522|9211678|9177373|9034163|8989235|8530621|8265607|7400309|7344234|7217085|3964273|3390233|3018730|2973313|2848247|2338489|2171939|1988941|1825497|1496995|1478630|1371509|162557	BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;CELL_FRACTION;MEMBRANE_FRACTION	OXIDOREDUCTASE_ACTIVITY_GO_0016705;ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ENDOGENOUS_STEROLS;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	15	58838010	rs6083	A	G	225.39	PASS	LIPC	lipase, hepatic	exonic	NM_000236	.	missense SNV	LIPC:NM_000236:exon5:c.A644G:p.N215S	ENST00000414170.3,ENST00000299022.5,ENST00000356113.6,ENST00000433326.2	.	15q21.3	.	.	Score=791;Name=V$CART1_01	.	.	rs6083	.	.	0.762458	0.7917	0.608626	0.4697	0.4703	0.8312	0.618682980092	0.685095896635	0.055,T	0.014,B	0.028,B	1,P	0.109222,N	1.44,L	-2.61,D	2.8406	0.025	2.060	.	.	AC=36;AN=46;BQB=0.737822;DP4=283,114,1035,405;DP=2513;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.568761;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693127;VDB=0.640697	GT:DP:DV:PL	0/1:72:33:255,0,255	1/1:84:84:255,253,0	1/1:62:62:255,187,0	1/1:85:85:255,255,0	.	1/1:101:101:255,255,0	1/1:81:81:255,244,0	0/1:79:37:255,0,255	0/1:83:43:255,0,255	0/1:63:33:255,0,255	1/1:79:79:255,238,0	0/1:84:47:255,0,255	0/1:63:39:255,0,255	1/1:82:82:255,247,0	0/1:83:37:255,0,255	0/1:86:39:255,0,255	1/1:76:76:255,229,0	.	1/1:75:74:255,166,0	1/1:85:85:255,255,0	1/1:92:92:255,255,0	0/1:109:59:255,0,255	1/1:38:38:255,114,0	1/1:94:94:255,255,0	0/1:81:40:255,0,255	A	G	13	10	[High density lipoprotein cholesterol level QTL 12], 612797 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3)	.	Increased BMI, association with(CM910256)	AAT-AGT|Asn215Ser|c.644A>G|p.N215S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18364377&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1883393&dopt=Abstract)	18364377|20981092|1883393|18364377|18160998|15304509|15292318|15292235|15126514|12777476|3692485|2839510|2605236|2454457|2447084|2324091|2211673|1883393|1671786	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	KEGG_GLYCEROLIPID_METABOLISM	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	15	58853079	rs3829462	C	A	215.48	PASS	LIPC	lipase, hepatic	exonic	NM_000236	.	missense SNV	LIPC:NM_000236:exon7:c.C1068A:p.F356L	ENST00000414170.3,ENST00000299022.5,ENST00000356113.6,ENST00000433326.2	.	15q21.3	.	.	Score=769;Name=V$PAX6_01	.	.	rs3829462	.	.	0.953488	0.9405	0.936102	0.9453	0.9687	0.9375	0.691424269525	0.828124730769	0.386,T	0.132,B	0.127,B	5.738e-07,P	0.000000,D	1.245,L	0.04,T	12.0576	0.789	3.448	3.291144,22.8	3.91	AC=48;AN=50;BQB=0.828064;DP4=25,0,349,37;DP=572;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.86151;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.0105501	GT:DP:DV:PL	1/1:13:13:245,39,0	0/1:22:8:178,0,255	1/1:7:7:203,21,0	1/1:22:22:255,66,0	1/1:15:15:255,45,0	1/1:18:18:255,54,0	1/1:17:17:255,51,0	1/1:20:20:255,60,0	1/1:14:14:255,42,0	1/1:14:14:255,42,0	1/1:15:15:255,45,0	1/1:18:18:255,54,0	1/1:18:18:255,54,0	0/1:15:5:118,0,243	1/1:16:16:255,48,0	1/1:17:17:255,51,0	1/1:18:18:255,54,0	1/1:15:15:255,45,0	1/1:14:14:255,42,0	1/1:21:20:255,26,0	1/1:23:23:255,69,0	1/1:21:21:255,63,0	1/1:8:8:231,24,0	1/1:17:17:255,51,0	1/1:13:13:255,39,0	C	A	23	2	[High density lipoprotein cholesterol level QTL 12], 612797 (3); {Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3)	.	Hepatic lipase deficiency(CM962679)	TTA-TTC|Leu356Phe|c.1068A>C|p.L356F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8732782&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19428034&dopt=Abstract)	8732782|20981092|19428034|18364377|18160998|15304509|15292318|15292235|15126514|12777476|3692485|2839510|2605236|2454457|2447084|2324091|2211673|1883393|1671786	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	KEGG_GLYCEROLIPID_METABOLISM	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	15	65494212	rs2073711	A	G	117.69	PASS	CILP	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	exonic	NM_003613	.	missense SNV	CILP:NM_003613:exon8:c.T1184C:p.I395T	ENST00000261883.4	.	15q22.31	.	.	.	.	.	rs2073711	CLINSIG=other;CLNDBN=Lumbar_disc_disease\x2c_susceptibility_to;CLNACC=RCV000006692.2;CLNDSDB=.;CLNDSDBID=.	.	0.114618	0.1429	0.496605	0.6362	0.5682	0.1521	0.114618	0.104567359375	0.259,T	0.001,B	0.0,B	0.00643731,P	0.000073,N	2.165,M	1.19,T	9.4938	0.523	4.095	1.789713,14.93	3.4	AC=10;AN=20;BQB=0.931779;DP4=57,2,57,1;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.813189;SF=0,1,6,8,10,11,13,16,20,23;SGB=-0.616816;VDB=0.348672	GT:DP:DV:PL	0/1:12:6:147,0,161	0/1:10:4:147,0,132	.	.	.	.	0/1:13:7:201,0,159	.	0/1:9:6:146,0,69	.	0/1:12:5:126,0,200	0/1:5:3:71,0,53	.	0/1:12:6:177,0,161	.	.	0/1:16:8:200,0,193	.	.	.	0/1:10:3:89,0,140	.	.	0/1:18:10:204,0,181	.	A	G	0	10	{Lumbar disc disease, susceptibility to}, 603932 (3)	.	Lumbar disc disease, association with(CM051412)	ATA-ACA|Ile395Thr|c.1184T>C|p.I395T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15864306&dopt=Abstract)	15864306|17220213|15864306|12746903|10319588|9722584|9722583	NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS	.	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	15	74219546	rs1048661	G	T	217.68	PASS	LOXL1	lysyl oxidase-like 1	exonic	NM_005576	.	missense SNV	LOXL1:NM_005576:exon1:c.G422T:p.R141L	ENST00000568087.1,ENST00000565756.1,ENST00000565416.1,ENST00000564194.1,ENST00000566675.1,ENST00000261921.7,ENST00000562965.1,ENST00000567257.1,ENST00000564963.1,ENST00000562739.1	CpG: 166	15q24.1	.	.	Score=835;Name=V$AHRARNT_01	.	.	rs1048661	CLINSIG=other;CLNDBN=Exfoliation_syndrome\x2c_susceptibility_to;CLNACC=RCV000015434.2;CLNDSDB=.;CLNDSDBID=.	.	0.521595	0.5179	0.311302	0.2592	0.3374	0.5539	0.424962105666	0.474759867788	0.0,D	0.325,B	0.914,P	0.291754,P	0.366174,N	1.87,L	1.6,T	13.8238	1.818	2.792	6.444091,29.8	4.1	AC=26;AN=38;BQB=0.873738;DP4=241,41,409,101;DP=1041;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.282565;SF=0,1,2,5,6,7,8,9,11,12,15,16,17,18,19,20,21,22,23;SGB=-0.692831;VDB=0.860764	GT:DP:DV:PL	1/1:24:24:255,72,0	0/1:48:21:255,0,255	1/1:54:54:255,163,0	.	.	0/1:110:52:255,0,255	0/1:34:22:255,0,218	1/1:37:37:255,111,0	0/1:33:9:201,0,255	0/1:22:11:203,0,248	.	0/1:23:12:255,0,230	1/1:42:42:255,126,0	.	.	0/1:28:11:239,0,255	0/1:38:27:255,0,255	1/1:26:26:255,78,0	1/1:23:23:255,69,0	0/1:41:20:255,0,255	1/1:33:33:255,99,0	0/1:67:23:255,0,255	0/1:28:15:255,0,255	0/1:81:48:255,0,255	.	G	T	7	12	{Exfoliation syndrome, susceptibility to}, 177650 (3)	.	Exfoliation glaucoma, association with(CM074329)	CTG-CGG|Leu141Arg|c.422T>G|p.L141R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17690259&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21197115&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22065931&dopt=Abstract)	17690259|21197115|22065931|19343041|18037624|17690259|14745449|10773658|9119402|8608421|7706256|7689553	BIOPOLYMER_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	EXTRACELLULAR_REGION	.	.	.	.	.	PS1,PS3,BA1
L	15	90213229	rs6496589	G	C	224.62	PASS	PLIN1	perilipin 1	exonic	NM_001145311,NM_002666	.	missense SNV	PLIN1:NM_001145311:exon5:c.C580G:p.P194A,PLIN1:NM_002666:exon5:c.C580G:p.P194A	ENST00000430628.2,ENST00000300055.5	.	15q26.1	.	.	.	.	.	rs6496589	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000117994.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.780731	0.7619	0.895767	0.9894	0.9382	0.7375	0.600306473201	0.698317466346	0.71,T	0.019,B	0.002,B	1,P	0.120586,N	1.935,L	3.37,T	9.6387	1.134	0.529	.	3.11	AC=35;AN=48;BQB=0.793593;DP4=246,48,619,161;DP=1361;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.922024;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.692067;VDB=0.854934	GT:DP:DV:PL	0/1:42:20:255,0,255	0/1:45:27:255,0,255	0/1:54:27:255,0,255	1/1:39:39:255,117,0	0/1:36:17:252,0,249	0/1:79:44:255,0,255	0/1:35:19:255,0,255	0/1:42:22:255,0,255	1/1:42:42:255,126,0	1/1:23:23:255,69,0	1/1:31:31:255,93,0	1/1:43:43:255,129,0	1/1:48:48:255,144,0	0/1:61:34:255,0,255	0/1:53:28:255,0,255	0/1:40:14:255,0,255	0/1:48:28:255,0,255	1/1:46:46:255,138,0	0/1:43:21:255,0,255	1/1:49:49:255,148,0	0/1:38:21:255,0,255	1/1:54:54:255,163,0	1/1:26:26:255,78,0	.	1/1:57:57:255,172,0	G	C	11	13	Lipodystrophy, familial partial, type 4, 613877 (3)	.	Obesity, reduced risk(CM150776)	CCA-GCA|Pro194Ala|c.580C>G|p.P194A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25529448&dopt=Abstract)	25529448|21345103|19054096|11641724|11371650|11101849|9521880|7505452	.	.	.	KEGG_PPAR_SIGNALING_PATHWAY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_HORMONE_SENSITIVE_LIPASE_HSL_MEDIATED_TRIACYLGLYCEROL_HYDROLYSIS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT	PS1,PS3,BA1
L	15	99465473	rs3743262	C	T	224.25	PASS	IGF1R	insulin-like growth factor 1 receptor	exonic	NM_000875,NM_001291858	.	synonymous SNV	IGF1R:NM_000875:exon11:c.C2298T:p.T766T,IGF1R:NM_001291858:exon11:c.C2298T:p.T766T	ENST00000558762.1,ENST00000268035.6	.	15q26.3	.	.	.	.	.	rs3743262	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000174019.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.392027	0.3661	0.134185	0.0346	0.0901	0.3744	0.287902381317	0.35576965625	.	.	.	.	.	.	.	.	0.060	-0.377	1.240982,11.96	.	AC=22;AN=32;BQB=0.134754;DP4=192,64,380,135;DP=1119;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.488941;SF=1,3,4,5,6,7,8,9,10,11,13,15,17,20,21,24;SGB=-0.692562;VDB=0.181496	GT:DP:DV:PL	.	0/1:42:22:255,0,255	.	1/1:36:36:255,108,0	0/1:44:24:255,0,255	0/1:61:26:255,0,255	0/1:48:25:255,0,255	0/1:53:28:255,0,255	0/1:40:20:255,0,255	0/1:36:20:255,0,255	1/1:34:34:255,102,0	1/1:58:58:255,175,0	.	0/1:62:22:255,0,255	.	0/1:47:25:255,0,255	.	1/1:39:39:255,117,0	.	.	1/1:59:59:255,178,0	0/1:64:29:255,0,255	.	.	1/1:48:48:255,144,0	C	T	6	10	Insulin-like growth factor I, resistance to, 270450 (3)	.	Pacreatic cancer, clinical outcome, association with(CM105034)	ACC-ACT|Thr766Thr|c.2298C>T|p.T766T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20416304&dopt=Abstract)	20416304|18349070|18316725|17625568|17264177|16990549|16894147|16642022|16569742|15928254|15565107|14671200|14657428|14628051|12843179|12813019|12771153|12714661|12483226|12065745|11923875|11773005|11485987|11423532|11292875|10770205|10720440|9745438|9524259|8710868|8402901|8111387|8111378|3107886|3003744|2877871|2442619|1849352|1711844|1676559|1430235|1316909	PROTEIN_OLIGOMERIZATION;PROTEIN_AUTOPROCESSING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_DEVELOPMENT;INSULIN_RECEPTOR_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROGRAMMED_CELL_DEATH;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;ANTI_APOPTOSIS;PROTEIN_PROCESSING;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO;REGULATION_OF_CELL_PROLIFERATION	.	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;KINASE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GROWTH_FACTOR_BINDING;ENZYME_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_ENDOCYTOSIS;KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_LONG_TERM_DEPRESSION;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_PATHWAYS_IN_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA	PID_ER_NONGENOMIC_PATHWAY;PID_SHP2_PATHWAY;PID_IGF1_PATHWAY;PID_AJDISS_2PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_IGF1_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_BAD_PATHWAY;BIOCARTA_IGF1MTOR_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY	.	PS1,PS3,BA1
L	15	99478225	rs2229765	G	A	224.25	PASS	IGF1R	insulin-like growth factor 1 receptor	exonic	NM_000875,NM_001291858	.	synonymous SNV	IGF1R:NM_000875:exon16:c.G3129A:p.E1043E,IGF1R:NM_001291858:exon16:c.G3126A:p.E1042E	ENST00000558762.1,ENST00000268035.6	.	15q26.3	.	.	Score=803;Name=V$AHR_01	.	.	rs2229765	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000175020.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.368771	0.3462	0.335663	0.4027	0.3972	0.3527	0.291730436447	0.331731048077	.	.	.	.	.	.	.	.	-2.511	-0.162	.	.	AC=22;AN=32;BQB=0.568107;DP4=102,109,247,209;DP=878;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.714482;SF=0,1,2,3,4,5,7,8,10,11,13,15,17,20,21,24;SGB=-0.690438;VDB=0.379052	GT:DP:DV:PL	0/1:42:17:255,0,255	0/1:38:23:255,0,255	1/1:38:38:255,114,0	1/1:39:39:255,117,0	0/1:35:14:255,0,255	0/1:43:18:255,0,255	.	0/1:35:14:255,0,255	0/1:28:16:255,0,255	.	1/1:43:43:255,129,0	1/1:46:46:255,138,0	.	0/1:55:25:255,0,255	.	0/1:35:15:255,0,255	.	1/1:44:44:255,132,0	.	.	0/1:36:21:255,0,255	0/1:50:23:255,0,255	.	.	1/1:60:60:255,181,0	G	A	6	10	Insulin-like growth factor I, resistance to, 270450 (3)	.	Increased longevity(CM031698)	GAG-GAA|Glu1043Glu|c.3129G>A|p.E1043E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12843179&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18477064&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22909219&dopt=Abstract)	12843179|18477064|22909219|18349070|18316725|17625568|17264177|16990549|16894147|16642022|16569742|15928254|15565107|14671200|14657428|14628051|12843179|12813019|12771153|12714661|12483226|12065745|11923875|11773005|11485987|11423532|11292875|10770205|10720440|9745438|9524259|8710868|8402901|8111387|8111378|3107886|3003744|2877871|2442619|1849352|1711844|1676559|1430235|1316909	PROTEIN_OLIGOMERIZATION;PROTEIN_AUTOPROCESSING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_DEVELOPMENT;INSULIN_RECEPTOR_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROGRAMMED_CELL_DEATH;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;ANTI_APOPTOSIS;PROTEIN_PROCESSING;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO;REGULATION_OF_CELL_PROLIFERATION	.	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;KINASE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GROWTH_FACTOR_BINDING;ENZYME_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_ENDOCYTOSIS;KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_LONG_TERM_DEPRESSION;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_PATHWAYS_IN_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA	PID_ER_NONGENOMIC_PATHWAY;PID_SHP2_PATHWAY;PID_IGF1_PATHWAY;PID_AJDISS_2PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_IGF1_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_BAD_PATHWAY;BIOCARTA_IGF1MTOR_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY	.	PS1,PS3,BA1
L	16	1129872	rs169068	C	T	226.75	PASS	SSTR5	somatostatin receptor 5	exonic	NM_001053,NM_001172560	.	missense SNV	SSTR5:NM_001053:exon1:c.C1004T:p.P335L,SSTR5:NM_001172560:exon2:c.C1004T:p.P335L	ENST00000562758.1,ENST00000397547.2,ENST00000293897.4	CpG: 167	16p13.3	.	.	Score=864;Name=V$ZID_01	.	.	rs169068	.	.	0.802326	0.8085	0.518171	0.4866	0.5386	0.8062	0.634762679939	0.728365795673	0.169,T	0.011,B	0.055,B	1,P	0.233745,N	1.65,L	-0.59,T	6.5926	0.883	0.489	.	2.24	AC=43;AN=48;BQB=0.369964;DP4=63,114,676,1193;DP=2736;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.967663;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693139;VDB=0.0946038	GT:DP:DV:PL	0/1:58:36:255,0,255	1/1:74:74:255,223,0	0/1:89:45:255,0,255	1/1:66:66:255,199,0	1/1:58:58:255,175,0	1/1:151:151:255,255,0	1/1:81:81:255,244,0	1/1:97:97:255,255,0	1/1:58:58:255,175,0	1/1:46:46:255,138,0	1/1:90:90:255,255,0	0/1:65:29:255,0,255	1/1:92:92:255,255,0	1/1:103:103:255,255,0	1/1:103:103:255,255,0	1/1:73:73:255,220,0	1/1:58:58:255,175,0	0/1:63:23:255,0,255	0/1:76:42:255,0,255	1/1:93:93:255,255,0	1/1:95:94:255,249,0	1/1:140:140:255,255,0	.	1/1:114:114:255,255,0	1/1:103:103:255,255,0	C	T	19	5	Somatostatin analog, resistance to (3)	.	Increased cellular proliferation and PDX-1 overexpression(CM1111107)	CCG-CTG|Pro335Leu|c.1004C>T|p.P335L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21249361&dopt=Abstract)	21249361|21820437|14602773|12970293|12601018|11502816|11344221|10766637|10753124|9695740|9226367|8954784|8373420|8244401|7607700	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;CELL_PROLIFERATION_GO_0008283;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	NEUROPEPTIDE_BINDING;NEUROPEPTIDE_RECEPTOR_ACTIVITY;PEPTIDE_BINDING;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;PEPTIDE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	16	3304626	rs3743930	C	G	222.92	PASS	MEFV	Mediterranean fever	exonic	NM_000243	.	missense SNV	MEFV:NM_000243:exon2:c.G442C:p.E148Q	ENST00000219596.1,ENST00000541159.1,ENST00000536379.1,ENST00000339854.4	CpG: 34	16p13.3	.	.	.	.	.	rs3743930	CLINSIG=other|Pathogenic;CLNDBN=Familial_Mediterranean_fever|Familial_mediterranean_fever\x2c_autosomal_dominant;CLNACC=RCV000002651.6|RCV000002664.2;CLNDSDB=MedGen:OMIM:SNOMED_CT|MedGen:OMIM;CLNDSDBID=C0031069:249100:12579009|C1851347:134610	.	0.300664	0.2887	0.126398	0.0112	0.0900	0.3150	0.21975467075	0.266826632212	0.005,D	0.851,P	0.995,D	1,P	0.003372,N	1.83,L	-1.07,T	8.7109	1.441	1.142	3.680421,23.3	3.44	AC=14;AN=24;BQB=0.99715;DP4=159,32,337,103;DP=785;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.786765;SF=1,2,3,5,6,8,10,15,16,20,21,24;SGB=-0.692067;VDB=0.591045	GT:DP:DV:PL	.	0/1:42:20:255,0,255	0/1:38:24:255,0,255	0/1:55:30:255,0,255	.	1/1:78:78:255,235,0	0/1:37:18:255,0,255	.	0/1:30:14:255,0,255	.	0/1:52:34:255,0,239	.	.	.	.	0/1:39:27:255,0,216	0/1:43:23:255,0,250	.	.	.	0/1:43:25:255,0,255	1/1:107:107:255,255,0	.	.	0/1:67:40:255,0,255	C	G	2	10	Familial Mediterranean fever, AR, 249100 (3); Familial Mediterranean fever, AD, 134610 (3)	.	Mediterranean fever, familial, association with(CM981240)	GAG-CAG|Glu148Gln|c.442G>C|p.E148Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9668175&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11588211&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21995303&dopt=Abstract)	9668175|11588211|21995303|24919149|22995991|21290976|19863562|19755381|18177465|17964261|17711558|16785446|16564365|14679589|14595024|12687559|12667444|11977178|11938447|11903360|11781702|11528510|11484206|11468188|11464248|11464238|11313758|11256068|11242116|11175300|11115844|11017802|10818206|10807793|10787449|10364520|10090880|10036584|9781020|9668175|9603438|9288758|9288094|7677151	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	ORGANELLE_PART;MICROTUBULE_ASSOCIATED_COMPLEX;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	KEGG_NOD_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_THE_NLRP3_INFLAMMASOME;REACTOME_INFLAMMASOMES;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	PS1,PS3,BA1
L	16	4833970	rs759991	C	T	223.38	PASS	SEPT12	septin 12	exonic	NM_144605	.	synonymous SNV	SEPT12:NM_144605:exon5:c.G474A:p.V158V	ENST00000396693.5,ENST00000268231.8	.	16p13.3	.	.	Score=813;Name=V$PAX6_01	.	.	rs759991	.	.	0.284053	0.2966	0.313099	0.2458	0.2885	0.3054	0.248851382848	0.264422831731	.	.	.	.	.	.	.	.	0.162	0.151	1.234414,11.93	.	AC=16;AN=26;BQB=0.512947;DP4=205,35,346,65;DP=924;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.014488;SF=1,3,6,8,9,10,11,13,14,15,16,20,23;SGB=-0.693147;VDB=0.57848	GT:DP:DV:PL	.	1/1:52:52:255,157,0	.	0/1:47:21:255,0,255	.	.	0/1:49:31:255,0,253	.	1/1:37:37:255,111,0	0/1:34:16:255,0,234	0/1:54:31:255,0,255	0/1:38:21:255,0,255	.	0/1:70:38:255,0,255	0/1:40:20:255,0,255	0/1:38:18:255,0,255	1/1:55:55:255,166,0	.	.	.	0/1:47:25:255,0,255	.	.	0/1:90:46:255,0,255	.	C	T	3	10	Spermatogenic failure 10, 614822 (3)	.	Male infertility, association with(CS122595)	IVS5 ds G-A -39|c.474G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22479503&dopt=Abstract)	22479503|22479503|22275165|20801438|17685441|17074343|15915442	.	.	.	.	.	.	.	PS1,PS3,BA1
L	16	27356203	rs1805010	A	G	220.94	PASS	IL4R	interleukin 4 receptor	exonic	NM_000418,NM_001257406,NM_001257407	.	missense SNV	IL4R:NM_001257406:exon4:c.A223G:p.I75V,IL4R:NM_000418:exon5:c.A223G:p.I75V,IL4R:NM_001257407:exon5:c.A178G:p.I60V	ENST00000380922.3,ENST00000543915.2,ENST00000449195.1,ENST00000170630.2,ENST00000395762.2	.	16p12.1	.	.	Score=770;Name=V$ARNT_02	.	.	rs1805010	CLINSIG=other|Pathogenic;CLNDBN=Atopy\x2c_resistance_to|Acquired_immunodeficiency_syndrome\x2c_slow_progression_to;CLNACC=RCV000015776.4|RCV000015777.4;CLNDSDB=.|.;CLNDSDBID=.|.	.	0.475083	0.5159	0.45647	0.4650	0.4512	0.5138	0.404287875957	0.427884622596	1.0,T	0.001,B	0.0,B	1,P	0.380973,N	.	2.19,T	6.3201	-0.161	-0.173	.	.	AC=21;AN=34;BQB=0.298294;DP4=240,50,346,77;DP=1035;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978724;SF=0,1,3,4,6,7,12,13,14,15,17,19,20,21,22,23,24;SGB=-0.688148;VDB=0.524758	GT:DP:DV:PL	0/1:30:15:255,0,255	0/1:38:15:255,0,255	.	0/1:38:17:255,0,255	0/1:34:19:255,0,255	.	1/1:54:54:255,163,0	0/1:46:17:234,0,255	.	.	.	.	0/1:36:16:255,0,255	1/1:48:48:255,144,0	0/1:60:22:255,0,255	1/1:36:36:255,108,0	.	0/1:29:16:255,0,255	.	0/1:43:24:255,0,255	1/1:41:41:255,123,0	0/1:55:23:255,0,255	0/1:22:10:235,0,255	0/1:55:30:255,0,255	0/1:48:20:255,0,255	A	G	4	13	{Atopy, susceptibility to}, 147050 (3); {AIDS, slow progression to}, 609423 (3)	.	Asthma, atopic, association with(CM983400)	ATC-GTC|Ile75Val|c.223A>G|p.I75V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9620765&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19796199&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19592641&dopt=Abstract)	9620765|19796199|19592641|22245779|18243101|16917945|16189667|15712015|15386021|14557412|12791978|12757709|11709756|11258628|10905893|10677312|10641559|10590262|10233717|9620765|9537881|9515586|9392697|8810328|8101483|7716810|2307934|2278997|1680807|1679753	SIGNAL_TRANSDUCTION;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	INTERLEUKIN_BINDING;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE	PID_P73PATHWAY;PID_IL4_2PATHWAY	BIOCARTA_IL4_PATHWAY;BIOCARTA_NKT_PATHWAY;BIOCARTA_TH1TH2_PATHWAY	.	PS1,PS3,BA1
L	16	29824787	rs79182085	C	G	222	PASS	PRRT2	proline-rich transmembrane protein 2	exonic	NM_001256442,NM_001256443,NM_145239	.	missense SNV	PRRT2:NM_001256442:exon2:c.C412G:p.P138A,PRRT2:NM_001256443:exon2:c.C412G:p.P138A,PRRT2:NM_145239:exon2:c.C412G:p.P138A	ENST00000358758.7,ENST00000567551.1,ENST00000300797.6,ENST00000569039.1,ENST00000567659.1	.	16p11.2	.	.	.	.	.	rs79182085	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000118065.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0730897	0.1002	0.0295527	0.0014	0.0174	0.0979	0.0497702660031	0.0697115473558	0.022,D	0.013,B	0.019,B	0.994714,N	0.787771,N	1.445,L	-0.63,T	3.9955	0.197	-0.071	.	.	AC=3;AN=6;BQB=0.618765;DP4=34,38,38,39;DP=195;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.845852;SF=1,20,22;SGB=-0.693136;VDB=0.0216328	GT:DP:DV:PL	.	0/1:59:35:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:28:255,0,255	.	0/1:33:14:255,0,255	.	.	C	G	0	3	Episodic kinesigenic dyskinesia 1, 128200 (3); Seizures, benign familial infantile, 2, 605751 (3); Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)	.	Febrile seizures in epilepsy(CM1413789)	CCT-GCT|Pro138Ala|c.412C>G|p.P138A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25522171&dopt=Abstract)	25522171|24928127|23343561|22744660|22623405|22543779|22399141|22243967|22120146|22101681|16822249|15144424|12953268|9579893	.	.	.	.	.	.	.	PS1,PS3,BA1
L	16	31336888	rs1143683	C	T	222	PASS	ITGAM	integrin, alpha M (complement component 3 receptor 3 subunit)	exonic	NM_000632,NM_001145808	.	missense SNV	ITGAM:NM_000632:exon21:c.C2573T:p.A858V,ITGAM:NM_001145808:exon21:c.C2576T:p.A859V	ENST00000544665.3,ENST00000287497.8	.	16p11.2	.	.	.	.	.	rs1143683	.	.	0.0265781	0.0278	0.16254	0.1648	0.1627	0.0132	0.0145482493415	0.0204327128606	0.143,T	0.015,B	0.006,B	1,P	.	1.275,L	0.62,T	10.8691	0.007	-0.193	.	.	AC=1;AN=2;BQB=0.637982;DP4=21,20,24,22;DP=122;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.351769;SF=20;SGB=-0.693147;VDB=0.0105886	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:87:46:255,0,255	.	.	.	.	C	T	0	1	{Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)	.	Systemic lupus erythematosus, association with(CM0911102)	GCC-GTC|Ala858Val|c.2573C>T|p.A858V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19286673&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20629846&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24886912&dopt=Abstract)	19286673|20629846|24886912|21676865|16601674|10675355|3887182|3539202|3284962|2833753|2457584|2454931	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;INTEGRIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_LEISHMANIA_INFECTION	PID_INTEGRIN_CS_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_INTEGRIN2_PATHWAY;PID_UPA_UPAR_PATHWAY	BIOCARTA_GRANULOCYTES_PATHWAY;BIOCARTA_MONOCYTE_PATHWAY	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	16	31343005	rs1143678	C	T	222	PASS	ITGAM	integrin, alpha M (complement component 3 receptor 3 subunit)	exonic	NM_000632,NM_001145808	.	missense SNV	ITGAM:NM_000632:exon30:c.C3436T:p.P1146S,ITGAM:NM_001145808:exon30:c.C3439T:p.P1147S	ENST00000544665.3,ENST00000287497.8	CpG: 51	16p11.2	.	.	.	.	.	rs1143678	.	.	0.0265781	0.0278	0.169529	0.1660	0.1989	0.0168	0.0153139490658	0.0204327128606	0.018,D	0.231,B	0.722,P	1,P	.	1.845,L	0.29,T	7.0467	1.075	1.951	2.805510,21.4	3.25	AC=1;AN=2;BQB=0.800415;DP4=18,9,29,6;DP=88;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.699919;SF=20;SGB=-0.693136;VDB=0.100583	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:35:255,0,255	.	.	.	.	C	T	0	1	{Systemic lupus erythematous, association with susceptibility to, 6}, 609939 (3)	.	Systemic lupus erythematosus, association with(CM114649)	CCC-TCC|Pro1146Ser|c.3436C>T|p.P1146S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20629846&dopt=Abstract)	20629846|21676865|16601674|10675355|3887182|3539202|3284962|2833753|2457584|2454931	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;INTEGRIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_LEISHMANIA_INFECTION	PID_INTEGRIN_CS_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_INTEGRIN2_PATHWAY;PID_UPA_UPAR_PATHWAY	BIOCARTA_GRANULOCYTES_PATHWAY;BIOCARTA_MONOCYTE_PATHWAY	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	16	48258198	rs17822931	C	T	196.35	PASS	ABCC11	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	exonic	NM_032583,NM_033151,NM_145186	.	missense SNV	ABCC11:NM_033151:exon4:c.G538A:p.G180R,ABCC11:NM_032583:exon5:c.G538A:p.G180R,ABCC11:NM_145186:exon5:c.G538A:p.G180R	ENST00000394748.1,ENST00000356608.2,ENST00000353782.5,ENST00000537808.1,ENST00000394747.1	.	16q12.1	.	.	.	.	.	rs17822931	CLINSIG=Benign|Benign|Benign;CLNDBN=Apocrine_gland_secretion\x2c_variation_in|Axillary_odor|Colostrum_secretion;CLNACC=RCV000003737.3|RCV000003738.2|RCV000003739.2;CLNDSDB=MedGen:OMIM|.|.;CLNDSDBID=C1861696:117800|.|.	.	0.792359	0.7798	0.300919	0.098	0.2251	0.8820	0.792359	0.734375225962	0.001,D	1.0,D	1.0,D	0.000203893,P	0.000000,D	2.935,M	-2.89,D	12.9103	2.161	4.117	5.917286,27.5	4.45	AC=46;AN=50;BQB=0.824834;DP4=32,0,262,23;DP=430;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.916482;MQSB=1;RPB=0.733186;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.0956229	GT:DP:DV:PL	1/1:10:10:255,30,0	1/1:14:14:255,42,0	0/1:10:3:108,0,191	0/1:13:7:150,0,159	1/1:17:17:255,51,0	1/1:12:12:235,36,0	1/1:8:8:205,24,0	1/1:13:13:255,39,0	1/1:13:13:255,39,0	1/1:11:11:250,33,0	1/1:10:10:255,30,0	1/1:16:16:255,48,0	0/1:14:10:170,0,78	1/1:16:16:255,48,0	1/1:12:12:255,36,0	1/1:11:11:249,33,0	1/1:14:14:255,42,0	1/1:6:6:188,18,0	1/1:13:13:255,39,0	1/1:7:7:167,21,0	1/1:17:17:255,51,0	0/1:19:4:65,0,243	1/1:11:11:255,33,0	1/1:13:13:255,39,0	1/1:17:17:255,51,0	C	T	21	4	[Earwax, wet/dry], 117800 (3); [Axillary odor, variation in], 117800 (3); [Colostrum secretion, variation in], 117800 (3)	.	Earwax type, association with(CM062373)	GGG-AGG|Gly180Arg|c.538G>A|p.G180R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16444273&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24076068&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19625231&dopt=Abstract)	16444273|24076068|19625231|19710689|19557017|17394018|16444273|14471313|12076558|11688999|11591886|11483364	.	.	.	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	PS1,PS3,BA1
L	16	56545175	rs11373	T	C	197.06	PASS	BBS2	Bardet-Biedl syndrome 2	exonic	NM_031885	.	missense SNV	BBS2:NM_031885:exon3:c.A367G:p.I123V	ENST00000568104.1,ENST00000245157.5,ENST00000561951.1	.	16q12.2	.	.	.	.	.	rs11373	.	.	0.41196	0.4127	0.263578	0.1954	0.2092	0.4101	0.334609482389	0.368990360577	0.575,T	0.003,B	0.0,B	0.726341,P	0.006774,N	0.85,L	-1.58,D	5.865	-0.180	0.402	.	.	AC=21;AN=32;BQB=0.144538;DP4=54,24,111,67;DP=373;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.85394;SF=2,4,5,6,7,9,11,13,14,15,16,17,19,20,23,24;SGB=-0.680642;VDB=0.207866	GT:DP:DV:PL	.	.	0/1:18:12:255,0,188	.	1/1:18:18:255,54,0	1/1:15:15:255,45,0	0/1:11:6:211,0,134	0/1:17:6:198,0,255	.	0/1:15:5:162,0,255	.	1/1:15:15:255,45,0	.	1/1:17:17:255,51,0	0/1:13:7:184,0,202	0/1:19:13:255,0,159	0/1:23:11:255,0,255	0/1:14:8:231,0,187	.	0/1:15:11:255,0,115	0/1:15:8:240,0,192	.	.	0/1:9:4:133,0,192	1/1:22:22:255,66,0	T	C	5	11	Bardet-Biedl syndrome 2, 615981 (3); Retinitis pigmentosa 74, 616562 (3)	.	Bardet-Biedl syndrome(CM144738)	ATT-GTT|Ile123Val|c.367A>G|p.I123V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24746959&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24400638&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20498079&dopt=Abstract)	24746959|24400638|20498079|25541840|22981120|22072986|20618352|20603001|19150989|19081074|18334641|18317593|18299575|17574030|16823392|16582908|15539463|11567139|11285252|8298649	.	.	.	.	.	.	.	PS1,PS3,BA1
L	16	56548501	rs4784677	C	T	228	PASS	BBS2	Bardet-Biedl syndrome 2	exonic	NM_031885	.	missense SNV	BBS2:NM_031885:exon2:c.G209A:p.S70N	ENST00000568104.1,ENST00000245157.5	.	16q12.2	.	.	Score=821;Name=V$HNF1_01	.	.	rs4784677	CLINSIG=Pathogenic;CLNDBN=BARDET-BIEDL_SYNDROME_2/6\x2c_DIGENIC;CLNACC=RCV000004838.3;CLNDSDB=.;CLNDSDBID=.	.	1	1	0.996406	0.9945	0.9938	0.9999	0.796324606432	0.901442235577	1.0,T	.	.	0.999674,P	0.000000,N	.	-1.16,T	10.2501	0.950	5.013	1.357664,12.57	5.54	AC=50;AN=50;DP4=0,0,298,215;DP=741;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692562;VDB=0.0119446	GT:DP:DV:PL	1/1:22:22:255,66,0	1/1:20:20:255,60,0	1/1:14:14:255,42,0	1/1:28:28:255,84,0	1/1:23:23:255,69,0	1/1:29:29:255,87,0	1/1:22:22:255,66,0	1/1:17:17:255,51,0	1/1:21:21:255,63,0	1/1:16:16:255,48,0	1/1:19:19:255,57,0	1/1:17:17:255,51,0	1/1:18:18:255,54,0	1/1:16:16:255,48,0	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:26:26:255,78,0	1/1:16:16:255,48,0	1/1:24:24:255,72,0	1/1:16:16:255,48,0	1/1:16:16:255,48,0	1/1:28:28:255,84,0	1/1:9:9:255,27,0	1/1:21:21:255,63,0	1/1:29:29:255,87,0	C	T	25	0	Bardet-Biedl syndrome 2, 615981 (3); Retinitis pigmentosa 74, 616562 (3)	.	Bardet-Biedl syndrome(CM012900)	AAC-AGC|Asn70Ser|c.209A>G|p.N70S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11567139&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24400638&dopt=Abstract)	11567139|20981092|24400638|25541840|22981120|22072986|20618352|20603001|19150989|19081074|18334641|18317593|18299575|17574030|16823392|16582908|15539463|11567139|11285252|8298649	.	.	.	.	.	.	.	PS1,PS3,BA1
L	16	56904587	rs1529927	C	G	228	PASS	SLC12A3	solute carrier family 12 (sodium/chloride transporter), member 3	exonic	NM_000339,NM_001126107,NM_001126108	.	missense SNV	SLC12A3:NM_000339:exon6:c.C791G:p.A264G,SLC12A3:NM_001126107:exon6:c.C788G:p.A263G,SLC12A3:NM_001126108:exon6:c.C791G:p.A264G	ENST00000563236.1,ENST00000262502.5,ENST00000438926.2,ENST00000566786.1	.	16q13	.	.	.	.	.	rs1529927	.	.	1	1	0.990615	0.9732	0.9756	0.9997	0.796324606432	0.901442235577	.	0.0,B	0.0,B	0.97672,P	0.000000,N	-2.035,N	.	15.4513	1.075	7.973	.	4.94	AC=50;AN=50;DP4=0,0,1487,606;DP=2842;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.638312	GT:DP:DV:PL	1/1:72:72:255,217,0	1/1:68:68:255,205,0	1/1:85:85:255,255,0	1/1:79:79:255,238,0	1/1:70:70:255,211,0	1/1:131:131:255,255,0	1/1:73:73:255,220,0	1/1:94:94:255,255,0	1/1:80:80:255,241,0	1/1:46:46:255,138,0	1/1:102:102:255,255,0	1/1:59:59:255,178,0	1/1:68:68:255,205,0	1/1:128:128:255,255,0	1/1:99:99:255,255,0	1/1:63:63:255,190,0	1/1:78:78:255,235,0	1/1:54:54:255,163,0	1/1:69:69:255,208,0	1/1:102:102:255,255,0	1/1:75:75:255,226,0	1/1:122:122:255,255,0	1/1:47:47:255,141,0	1/1:116:116:255,255,0	1/1:113:113:255,255,0	C	G	25	0	Gitelman syndrome, 263800 (3)	.	Gitelman syndrome(CM022671)	GGC-GCC|Gly264Ala|c.791G>C|p.G264A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11940055&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22245519&dopt=Abstract)	11940055|20981092|22245519|23833262|22009145|20848653|17000984|14766743|11313351|8954067|8900229|8812482|8670281|8617496|8528245|8464884|8021284	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SYMPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_CATION_SYMPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	16	57016092	rs5882	G	A	219.16	PASS	CETP	cholesteryl ester transfer protein, plasma	exonic	NM_000078,NM_001286085	.	missense SNV	CETP:NM_001286085:exon13:c.G1084A:p.V362I,CETP:NM_000078:exon14:c.G1264A:p.V422I	ENST00000379780.2,ENST00000566128.1,ENST00000200676.3	.	16q13	.	.	.	.	.	rs5882	CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10;CLNACC=RCV000019077.2;CLNDSDB=MedGen;CLNDSDBID=C3149463	.	0.578073	0.5635	0.533946	0.5912	0.6165	0.5481	0.452526513017	0.514422987981	1.0,T	0.003,B	0.001,B	1,P	0.775724,N	-0.57,N	3.35,T	8.142	-1.419	-2.553	.	.	AC=27;AN=38;BQB=0.590386;DP4=164,82,361,221;DP=1176;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.888481;SF=0,1,3,4,5,7,8,10,11,13,14,15,16,19,20,21,22,23,24;SGB=-0.689466;VDB=0.829843	GT:DP:DV:PL	0/1:33:16:255,0,255	0/1:48:19:255,0,255	.	1/1:33:33:255,99,0	0/1:37:19:255,0,255	1/1:62:62:255,187,0	.	1/1:41:41:255,123,0	0/1:42:18:255,0,255	.	1/1:44:44:255,132,0	1/1:41:41:255,123,0	.	0/1:64:31:255,0,255	1/1:51:51:255,154,0	0/1:29:17:255,0,255	0/1:49:21:255,0,255	.	.	0/1:35:19:255,0,255	1/1:36:36:255,108,0	1/1:58:58:255,175,0	0/1:15:5:154,0,255	0/1:63:31:255,0,255	0/1:47:20:255,0,255	G	A	8	11	Hyperalphalipoproteinemia, 143470 (3); [High density lipoprotein cholesterol level QTL 10], 143470 (3)	.	Higher HDL cholesterol level, association with(CM994290)	ATC-GTC|Ile422Val|c.1264A>G|p.I422V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10092998&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14559957&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19242900&dopt=Abstract)	10092998|14559957|19242900|20068209|17952847|17190939|14559957|12070157|10910363|10581080|9420339|8943225|8408659|8132678|7989465|7962532|7605382|6738363|3600759|3446583|2884631|2586614|2390095|2215607	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_LIPID_METABOLIC_PROCESS;LIPID_TRANSPORT;LIPOPROTEIN_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;CHEMICAL_HOMEOSTASIS;TRIACYLGLYCEROL_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	EXTRACELLULAR_REGION;VESICLE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	LIPID_BINDING;STEROL_BINDING;PHOSPHOLIPID_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;STEROID_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PS1,PS3,BA1
L	16	69745145	rs1800566	G	A	166.22	PASS	NQO1	NAD(P)H dehydrogenase, quinone 1	exonic	NM_000903,NM_001025433,NM_001025434,NM_001286137	.	missense SNV	NQO1:NM_001286137:exon4:c.C343T:p.P115S,NQO1:NM_001025433:exon5:c.C457T:p.P153S,NQO1:NM_001025434:exon5:c.C445T:p.P149S,NQO1:NM_000903:exon6:c.C559T:p.P187S	ENST00000439109.2,ENST00000320623.5,ENST00000379047.3,ENST00000564043.1,ENST00000561500.1,ENST00000379046.2	.	16q22.1	.	.	.	.	.	rs1800566	CLINSIG=other|other|Pathogenic;CLNDBN=Benzene_toxicity\x2c_susceptibility_to|Leukemia\x2c_post-chemotherapy\x2c_susceptibility_to|Breast_cancer\x2c_post-chemotherapy_poor_survival_in;CLNACC=RCV000018300.2|RCV000018301.2|RCV000018302.23;CLNDSDB=MedGen|MedGen|.;CLNDSDBID=C2675718|C2675719|.	.	0.428571	0.4187	0.288938	0.1974	0.2452	0.4502	0.326186436447	0.393028536058	0.032,D	0.999,D	1.0,D	7.31124e-11,P	0.000000,D	1.66,L	2.95,T	18.3313	2.696	9.224	6.610938,32	5.41	AC=21;AN=36;BQB=0.470358;DP4=60,60,68,66;DP=353;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=0.961166;RPB=0.623736;SF=0,2,3,4,5,7,9,10,11,12,14,16,18,19,20,21,22,24;SGB=-0.616816;VDB=0.132453	GT:DP:DV:PL	0/1:13:6:158,0,224	.	1/1:17:17:255,51,0	0/1:13:5:139,0,246	0/1:19:9:255,0,255	0/1:17:7:187,0,255	.	0/1:10:4:130,0,178	.	0/1:7:3:74,0,96	0/1:11:4:86,0,220	0/1:13:4:152,0,233	0/1:13:8:244,0,139	.	1/1:10:10:255,30,0	.	0/1:20:9:255,0,255	.	0/1:22:10:255,0,255	1/1:9:9:255,27,0	0/1:17:7:213,0,255	0/1:16:7:201,0,201	0/1:9:6:201,0,101	.	0/1:18:9:255,0,255	G	A	3	15	{Benzene toxicity, susceptibility to} (3); {Leukemia, post-chemotherapy, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3)	.	Lung cancer, smoking induced, association with(CM950861)	CCT-TCT|Pro187Ser|c.559C>T|p.P187S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8528266&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16702380&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22306249&dopt=Abstract)	8528266|16702380|22306249|18511948|16385446|10393963|10393869|9855009|9516435|9328142|9230185|9000600|6933553|6928411|6893112|6309068|2843525|2071140|1737339|1657151	BIOSYNTHETIC_PROCESS;RESPONSE_TO_TOXIN;RESPONSE_TO_XENOBIOTIC_STIMULUS;CELLULAR_BIOSYNTHETIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELL_CELL_SIGNALING;RESPONSE_TO_CHEMICAL_STIMULUS;SYNAPTIC_TRANSMISSION;XENOBIOTIC_METABOLIC_PROCESS;NEUROLOGICAL_SYSTEM_PROCESS;NITROGEN_COMPOUND_BIOSYNTHETIC_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	CYTOPLASM	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH	.	PID_TAP63PATHWAY	BIOCARTA_P53HYPOXIA_PATHWAY	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC	PS1,PS3,BA1
L	16	70303580	rs2070203	G	A	220.67	PASS	AARS	alanyl-tRNA synthetase	exonic	NM_001605	.	synonymous SNV	AARS:NM_001605:exon7:c.C903T:p.H301H	ENST00000261772.8	.	16q22.1	.	.	Score=888;Name=V$ZIC2_01	.	.	rs2070203	.	.	0.403654	0.4256	0.425319	0.4908	0.4659	0.4142	0.336906606432	0.364182461538	.	.	.	.	.	.	.	.	-2.828	-1.173	0.896784,10.06	.	AC=22;AN=36;BQB=0.78713;DP4=267,103,416,151;DP=1360;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.160064;SF=1,2,3,4,5,6,7,9,11,12,13,15,16,18,20,22,23,24;SGB=-0.693147;VDB=0.0329751	GT:DP:DV:PL	.	1/1:49:49:255,148,0	0/1:46:16:255,0,255	1/1:42:42:255,126,0	0/1:58:28:255,0,255	1/1:76:75:255,169,0	0/1:47:20:255,0,255	0/1:48:23:255,0,255	.	0/1:42:19:255,0,255	.	0/1:40:21:255,0,255	0/1:51:25:255,0,255	1/1:77:77:255,232,0	.	0/1:44:19:255,0,255	0/1:49:31:255,0,255	.	0/1:54:25:255,0,255	.	0/1:48:19:255,0,255	.	0/1:18:7:208,0,255	0/1:70:37:255,0,255	0/1:78:34:255,0,255	G	A	4	14	Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3); Epileptic encephalopathy, early infantile, 29, 616339 (3)	.	Altered mRNA folding(CM995271)	CAC-CAT|His301His|c.903C>T|p.H301H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10393914&dopt=Abstract)	10393914|25817015|25035493|22573628|22206013|22009580|20045102|20010690|19661429|16906134|11331948|11035802|10393914|8595897|7654687	TRNA_PROCESSING;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;TRNA_METABOLIC_PROCESS;RNA_PROCESSING;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION	CYTOPLASM;CELL_FRACTION;SOLUBLE_FRACTION	RNA_BINDING	KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_CYTOSOLIC_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	PS1,PS3,BA1
L	16	88713236	rs4673	A	G	227.28	PASS	CYBA	cytochrome b-245, alpha polypeptide	exonic	NM_000101	.	missense SNV	CYBA:NM_000101:exon4:c.T214C:p.Y72H	ENST00000569359.1,ENST00000261623.3,ENST00000567174.1	.	16q24.3	.	.	.	.	.	rs4673	CLINSIG=Benign;CLNDBN=CYBA_POLYMORPHISM;CLNACC=RCV000002351.2;CLNDSDB=.;CLNDSDBID=.	.	0.918605	0.9157	0.664337	0.6216	0.6908	0.9123	0.726646408882	0.830529098558	0.311,T	0.999,D	1.0,D	0.0462374,P	0.000050,N	2.515,M	-2.1,D	8.0663	0.616	4.416	1.188223,11.69	3.46	AC=47;AN=50;BQB=0.788321;DP4=116,60,1404,920;DP=3422;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.613722;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.333801	GT:DP:DV:PL	1/1:91:91:255,255,0	1/1:97:97:255,255,0	0/1:105:39:255,0,255	1/1:92:92:255,255,0	1/1:88:88:255,255,0	1/1:174:174:255,255,0	1/1:86:86:255,255,0	1/1:101:101:255,255,0	1/1:83:83:255,250,0	1/1:61:61:255,184,0	1/1:102:102:255,255,0	1/1:83:83:255,250,0	1/1:92:91:255,240,0	1/1:155:155:255,255,0	1/1:98:98:255,255,0	1/1:83:83:255,250,0	1/1:89:89:255,255,0	1/1:47:47:255,141,0	1/1:86:86:255,255,0	1/1:99:99:255,255,0	0/1:110:57:255,0,255	1/1:166:166:255,255,0	1/1:56:56:255,169,0	1/1:144:144:255,255,0	0/1:112:56:255,0,255	A	G	22	3	Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)	.	Coronary artery disease, lower risk, association(CM983302)	CAC-TAC|His72Tyr|c.214C>T|p.H72Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9445163&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25095657&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22396743&dopt=Abstract)	9445163|25095657|22396743|19641494|19388116|18422995|18292807|12213200|12073015|10759707|10440830|9445163|8798532|7843763|7578211|4384563|3571224|3368442|3305576|2286377|2243141|1763037|1719419|1415254	.	.	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_LEISHMANIA_INFECTION	PID_RAC1_PATHWAY	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PS1,PS3,BA1
L	16	88884435	rs78127134	C	T	222	PASS	GALNS	galactosamine (N-acetyl)-6-sulfatase	exonic	NM_000512	.	missense SNV	GALNS:NM_000512:exon13:c.G1462A:p.V488M	ENST00000542788.1,ENST00000268695.5	CpG: 29	16q24.3	.	.	.	.	.	rs78127134	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000174484.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0614618	0.0605	0.0131789	7.7e-05	0.0058	0.0796	0.036753448392	0.0504807651442	0.32,T	0.013,B	0.05,B	0.990985,D	0.000000,D	0.855,L	-2.53,D	10.8101	0.560	2.179	2.385353,18.72	3.15	AC=2;AN=4;BQB=0.996532;DP4=52,21,41,20;DP=180;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.887663;SF=20,22;SGB=-0.693147;VDB=0.178617	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:91:46:255,0,255	.	0/1:43:15:255,0,255	.	.	C	T	0	2	Mucopolysaccharidosis IVA, 253000 (3)	.	Mucopolysaccharidosis IVa(CM950544)	GTG-ATG|Val488Met|c.1462G>A|p.V488M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7795586&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25287660&dopt=Abstract)	7795586|20981092|25287660|25545067|20574428|16287098|15309681|14583446|12721840|10814710|9660054|9521421|9385378|9375852|9298823|8829629|8651279|8434612|8020961|8001980|7668283|7607677|7581409|3435483|1755850|1522213	.	.	HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;SULFURIC_ESTER_HYDROLASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	.	PS1,PS3,BA1
L	16	89836323	rs7195066	C	T	227.52	PASS	FANCA	Fanconi anemia, complementation group A	exonic	NM_000135,NM_001286167	.	missense SNV	FANCA:NM_000135:exon26:c.G2426A:p.G809D,FANCA:NM_001286167:exon26:c.G2426A:p.G809D	ENST00000568369.1,ENST00000389301.3	.	16q24.3	.	.	.	.	.	rs7195066	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120927.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.986711	0.9881	0.666733	0.4307	0.4690	0.9854	0.783307826953	0.883413355769	0.528,T	0.0,B	0.0,B	1,P	0.250384,N	-0.345,N	-1.85,D	2.3692	-0.200	0.305	.	.	AC=48;AN=50;BQB=0.987261;DP4=50,10,1017,376;DP=1976;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.581778;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0355314	GT:DP:DV:PL	1/1:50:50:255,151,0	0/1:53:27:255,0,255	1/1:55:55:255,166,0	1/1:37:37:255,111,0	0/1:71:37:255,0,255	1/1:93:93:255,255,0	1/1:58:58:255,175,0	1/1:73:73:255,220,0	1/1:58:58:255,175,0	1/1:45:45:255,135,0	1/1:45:45:255,135,0	1/1:42:42:255,126,0	1/1:58:58:255,175,0	1/1:52:52:255,157,0	1/1:50:50:255,151,0	1/1:42:42:255,126,0	1/1:59:59:255,178,0	1/1:40:40:255,120,0	1/1:50:50:255,151,0	1/1:61:61:255,184,0	1/1:48:48:255,144,0	1/1:109:109:255,255,0	1/1:33:33:255,99,0	1/1:85:85:255,255,0	1/1:86:86:255,255,0	C	T	23	2	Fanconi anemia, complementation group A, 227650 (3)	.	Fanconi anaemia A(CM137288)	GGT-GAT|Gly809Asp|c.2426G>A|p.G809D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23898106&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	23898106|24728327|19423727|18550849|16116422|15790592|15643609|15523645|15383454|15299030|12913077|12827451|12724401|12697994|12361951|12354784|11854506|11726552|11673408|11389461|11344308|11226273|11091222|10936049|10600472|10521298|10431244|10397750|10373536|10094191|9711872|9398857|9371798|9169126|9126728|9003502|8896564|8896563|8789444|8755924|7581462|3425596|2004784|1303209	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	CYTOPLASM;NUCLEUS	.	.	PID_FANCONI_PATHWAY;PID_BARD1PATHWAY	.	REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DNA_REPAIR	PS1,PS3,BA1
L	16	89849480	rs2239359	C	T	215.37	PASS	FANCA	Fanconi anemia, complementation group A	exonic	NM_000135,NM_001286167	.	missense SNV	FANCA:NM_000135:exon16:c.G1501A:p.G501S,FANCA:NM_001286167:exon16:c.G1501A:p.G501S	ENST00000568369.1,ENST00000389301.3	.	16q24.3	.	.	.	.	.	rs2239359	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120917.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.855482	0.8671	0.624002	0.4823	0.4995	0.8551	0.670750459418	0.772836807692	1.0,T	0.0,B	0.0,B	1,P	0.309285,N	-1.245,N	-1.65,D	14.5434	-1.689	-0.038	.	.	AC=43;AN=48;BQB=0.91428;DP4=24,25,188,235;DP=621;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.193988;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692067;VDB=0.0225533	GT:DP:DV:PL	1/1:20:20:255,60,0	1/1:26:26:255,78,0	1/1:17:17:255,51,0	1/1:16:16:255,48,0	1/1:19:19:255,57,0	0/1:28:17:255,0,255	1/1:20:20:255,60,0	1/1:18:18:255,54,0	.	0/1:14:6:135,0,212	0/1:19:7:177,0,255	1/1:10:10:255,30,0	1/1:18:18:255,54,0	1/1:24:24:255,72,0	0/1:16:7:180,0,255	1/1:16:16:255,48,0	1/1:24:24:255,72,0	1/1:15:15:255,45,0	1/1:20:20:255,60,0	0/1:22:13:255,0,255	1/1:21:21:255,63,0	1/1:30:30:255,90,0	1/1:12:12:255,36,0	1/1:23:23:255,69,0	1/1:24:24:255,72,0	C	T	19	5	Fanconi anemia, complementation group A, 227650 (3)	.	Breast cancer, association with(CM137880)	GGC-AGC|Gly501Ser|c.1501G>A|p.G501S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23021409&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24286411&dopt=Abstract)	23021409|24728327|24286411|19423727|18550849|16116422|15790592|15643609|15523645|15383454|15299030|12913077|12827451|12724401|12697994|12361951|12354784|11854506|11726552|11673408|11389461|11344308|11226273|11091222|10936049|10600472|10521298|10431244|10397750|10373536|10094191|9711872|9398857|9371798|9169126|9126728|9003502|8896564|8896563|8789444|8755924|7581462|3425596|2004784|1303209	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	CYTOPLASM;NUCLEUS	.	.	PID_FANCONI_PATHWAY;PID_BARD1PATHWAY	.	REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DNA_REPAIR	PS1,PS3,BA1
L	16	89866043	rs7190823	T	C	222.16	PASS	FANCA	Fanconi anemia, complementation group A	exonic	NM_000135,NM_001018112,NM_001286167	.	missense SNV	FANCA:NM_000135:exon9:c.A796G:p.T266A,FANCA:NM_001018112:exon9:c.A796G:p.T266A,FANCA:NM_001286167:exon9:c.A796G:p.T266A	ENST00000563673.1,ENST00000389302.3,ENST00000568369.1,ENST00000534992.1,ENST00000389301.3,ENST00000543736.1	.	16q24.3	.	.	.	.	.	rs7190823	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120967.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.98505	0.9871	0.690495	0.5060	0.5166	0.9847	0.781776738132	0.882211526442	1.0,T	0.0,B	0.0,B	1,P	0.416735,N	-2.125,N	1.19,T	5.1091	0.381	0.402	.	.	AC=48;AN=50;BQB=0.809155;DP4=12,8,338,145;DP=721;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.809155;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692717;VDB=0.430301	GT:DP:DV:PL	1/1:23:23:255,69,0	0/1:16:6:170,0,255	1/1:21:21:255,63,0	1/1:21:21:255,63,0	0/1:18:8:206,0,255	1/1:20:20:255,60,0	1/1:19:19:255,57,0	1/1:14:14:255,42,0	1/1:19:19:255,57,0	1/1:10:10:255,30,0	1/1:22:22:255,66,0	1/1:23:23:255,69,0	1/1:17:17:255,51,0	1/1:36:36:255,108,0	1/1:26:26:255,78,0	1/1:20:20:255,60,0	1/1:17:17:255,51,0	1/1:14:14:255,42,0	1/1:24:24:255,72,0	1/1:20:20:255,60,0	1/1:20:20:255,60,0	1/1:18:18:255,54,0	1/1:11:11:255,33,0	1/1:31:31:255,93,0	1/1:23:23:255,69,0	T	C	23	2	Fanconi anemia, complementation group A, 227650 (3)	.	Breast cancer, association with(CM137879)	ACG-GCG|Thr266Ala|c.796A>G|p.T266A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23021409&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	23021409|24728327|19423727|18550849|16116422|15790592|15643609|15523645|15383454|15299030|12913077|12827451|12724401|12697994|12361951|12354784|11854506|11726552|11673408|11389461|11344308|11226273|11091222|10936049|10600472|10521298|10431244|10397750|10373536|10094191|9711872|9398857|9371798|9169126|9126728|9003502|8896564|8896563|8789444|8755924|7581462|3425596|2004784|1303209	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	CYTOPLASM;NUCLEUS	.	.	PID_FANCONI_PATHWAY;PID_BARD1PATHWAY	.	REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DNA_REPAIR	PS1,PS3,BA1
L	16	89986154	rs885479	G	A	225.14	PASS	MC1R	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	exonic	NM_002386	.	missense SNV	MC1R:NM_002386:exon1:c.G488A:p.R163Q	ENST00000555147.1,ENST00000555427.1,ENST00000556922.1	CpG: 38	16q24.3	.	.	Score=803;Name=V$CMYB_01	.	.	rs885479	.	.	0.591362	0.6161	0.191294	0.0371	0.1358	0.6442	0.485451506891	0.531249896635	0.014,D	0.013,B	0.004,B	1,P	0.318113,N	1.855,L	-0.61,T	10.9062	2.234	0.920	.	4.81	AC=32;AN=42;BQB=0.228211;DP4=309,178,885,525;DP=2643;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998928;SF=0,1,2,3,4,5,6,7,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.123051	GT:DP:DV:PL	1/1:79:79:255,238,0	0/1:77:44:255,0,255	1/1:91:91:255,255,0	0/1:101:55:255,0,255	0/1:80:39:255,0,255	0/1:170:83:255,0,255	0/1:84:42:255,0,255	1/1:95:94:255,249,0	.	.	.	1/1:54:54:255,163,0	1/1:89:89:255,255,0	0/1:107:54:255,0,255	.	0/1:71:32:255,0,255	1/1:77:77:255,232,0	1/1:58:58:255,175,0	1/1:68:68:255,205,0	0/1:87:43:255,0,255	1/1:80:80:255,241,0	1/1:141:141:255,255,0	0/1:41:20:255,0,255	1/1:98:98:255,255,0	0/1:149:69:255,0,255	G	A	11	10	[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3)	.	Ephelides, increased risk, association with(CM014731)	CGA-CAA|Arg163Gln|c.488G>A|p.R163Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11487574&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22464597&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23711066&dopt=Abstract)	11487574|22464597|23711066|24439955|23123854|19338054|19197024|19194882|19119422|17962522|17952075|17652101|17325166|17279550|16988713|16825572|16825562|16809487|16463023|15994880|15972726|15653560|15372380|12876664|12839583|12704245|12692165|12663858|12620197|11933208|11689486|11500806|11500805|11499678|11487574|11254446|11030758|10895310|10744096|10631149|10602988|10403794|9665397|9571181|9302268|8995760|8990005|8944016|8894704|8661706|8535072|8528204|8458079|8392067|8385273|8188275|7949735|7581459|7581437|1516719|1325670	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;RESPONSE_TO_LIGHT_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_ABIOTIC_STIMULUS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_MELANOGENESIS	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	PS1,PS3,BA1
L	17	1673276	rs1136287	C	T	224.1	PASS	SERPINF1	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	exonic	NM_002615	.	missense SNV	SERPINF1:NM_002615:exon3:c.C215T:p.T72M	ENST00000571870.1,ENST00000254722.4	.	17p13.3	.	.	.	.	.	rs1136287	.	.	0.493355	0.4871	0.626198	0.7118	0.6188	0.5376	0.418836114855	0.465143786058	0.271,T	0.006,B	0.005,B	1,P	0.000341,N	0.975,L	-1.87,D	5.2065	-2.772	-0.751	.	.	AC=27;AN=40;BQB=0.998199;DP4=165,140,333,292;DP=1289;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.533549;SF=0,1,2,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,23,24;SGB=-0.693146;VDB=0.000163277	GT:DP:DV:PL	1/1:42:42:255,126,0	0/1:31:18:255,0,255	0/1:54:23:255,0,255	.	.	1/1:78:78:255,235,0	1/1:42:42:255,126,0	0/1:49:24:255,0,255	0/1:42:19:255,0,255	0/1:32:13:255,0,255	0/1:50:26:255,0,255	0/1:34:21:255,0,255	1/1:32:32:255,96,0	0/1:53:22:255,0,255	.	0/1:42:18:255,0,255	1/1:50:50:255,151,0	0/1:42:16:255,0,255	0/1:37:18:255,0,255	0/1:48:24:255,0,255	1/1:42:42:255,126,0	.	.	1/1:71:71:255,214,0	0/1:59:26:255,0,255	C	T	7	13	Osteogenesis imperfecta, type VI, 613982 (3)	.	Wet age-related macular degeneration, association with(CM081434)	ACG-ATG|Thr72Met|c.215C>T|p.T72M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18226801&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19503741&dopt=Abstract)	18226801|19503741|23054245|21353196|12740569|12208245|11927940|11726635|11562499|10655537|10398599|8434014|8188257	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_ANGIOGENESIS;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANGIOGENESIS;REGULATION_OF_ANGIOGENESIS;VASCULATURE_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_NEUROGENESIS;NEUROGENESIS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	17	7579472	rs1042522	G	C	224	PASS	TP53	tumor protein p53	exonic	NM_000546,NM_001126112,NM_001126113,NM_001126114,NM_001126118,NM_001276695,NM_001276696,NM_001276760,NM_001276761	.	missense SNV	TP53:NM_001126118:exon3:c.C98G:p.P33R,TP53:NM_000546:exon4:c.C215G:p.P72R,TP53:NM_001126112:exon4:c.C215G:p.P72R,TP53:NM_001126113:exon4:c.C215G:p.P72R,TP53:NM_001126114:exon4:c.C215G:p.P72R,TP53:NM_001276695:exon4:c.C98G:p.P33R,TP53:NM_001276696:exon4:c.C98G:p.P33R,TP53:NM_001276760:exon4:c.C98G:p.P33R,TP53:NM_001276761:exon4:c.C98G:p.P33R	ENST00000359597.4,ENST00000455263.2,ENST00000269305.4,ENST00000445888.2,ENST00000420246.2,ENST00000413465.2	.	17p13.1	.	.	.	.	.	rs1042522	CLINSIG=Benign\x2cBenign|Benign|Benign|Benign|Uncertain significance\x2cUncertain significance;CLNDBN=not_specified\x2cCODON_72_POLYMORPHISM\x2c_(rs1042522)|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Li-Fraumeni_syndrome_1\x2cHereditary_cancer-predisposing_syndrome;CLNACC=RCV000152112.1,RCV000013144.2|RCV000034639.1|RCV000079202.5|RCV000132165.2|RCV000144668.1,RCV000164487.1;CLNDSDB=MedGen\x2c.|MedGen|MedGen|MedGen:SNOMED_CT|MedGen:OMIM\x2cMedGen:SNOMED_CT;CLNDSDBID=CN169374\x2c.|CN221809|CN169374|C0027672:699346009|C1835398:151623\x2cC0027672:699346009	.	0.559801	0.5863	0.542931	0.6300	0.6600	0.5892	0.450995805513	0.504808055288	0.244,T	0.372,B	0.745,P	1,P	0.370853,U	1.355,L	-2.05,D	9.7733	1.355	1.016	.	.	AC=28;AN=42;BQB=0.123146;DP4=272,109,531,223;DP=1560;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991779;SF=1,2,3,4,5,6,7,8,9,10,11,13,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=0.525653	GT:DP:DV:PL	.	0/1:52:24:255,0,255	0/1:46:20:255,0,255	0/1:53:27:255,0,255	1/1:69:69:255,208,0	0/1:71:31:255,0,255	0/1:47:20:255,0,255	0/1:59:26:255,0,255	1/1:57:57:255,172,0	1/1:33:33:255,99,0	0/1:63:34:255,0,255	0/1:42:22:255,0,255	.	0/1:69:30:255,0,255	.	.	1/1:57:57:255,172,0	0/1:49:32:255,0,255	1/1:57:57:255,172,0	1/1:51:51:255,154,0	0/1:61:30:255,0,255	1/1:65:65:255,193,0	0/1:29:15:255,0,255	0/1:49:28:255,0,255	0/1:56:26:255,0,255	G	C	7	14	Colorectal cancer, 114500 (3); Li-Fraumeni syndrome, 151623 (3); Hepatocellular carcinoma, 114550 (3); Osteosarcoma, 259500 (3); Choroid plexus papilloma, 260500 (3); Nasopharyngeal carcinoma, 607107 (3); Pancreatic cancer, 260350 (3); Adrenal cortical carcinoma, 202300 (3); Breast cancer, 114480 (3); {Basal cell carcinoma 7}, 614740 (3); {Glioma susceptibility 1}, 137800 (3)	.	Lung cancer, association with(CM961374)	CGC-CCC|Arg72Pro|c.215G>C|p.R72P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8625447&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18583979&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24747975&dopt=Abstract)	8625447|18583979|24747975|26331536|26228159|25799988|25612911|25119037|24919155|24305049|24264992|24030493|23880345|23772033|23484829|23334421|23242140|23208419|22700930|22499945|21946351|21331045|21317885|21307849|21107428|21107427|20871609|20522776|20520707|20466735|20019247|19718037|19718028|19718024|19668191|19668190|19668189|19668188|19668186|19626115|19521721|19407794|19293287|19171829|18983962|18948956|18772890|18762572|18641651|18614011|18500333|18485870|18483220|18418377|18411430|18411429|18411428|18403774|18172499|18094376|18094375|18087040|18056423|18046411|18025081|17996705|17921246|17805299|17707234|17637683|17637672|17554337|17540599|17540598|17535973|17380161|17349959|17349958|17334357|17251933|17251932|17234915|17189187|17189186|17138902|17128209|17110336|17108971|17098746|17080083|17070776|17015431|16971940|16964264|16957739|16917063|16803902|16728594|16418264|16286925|16258005|16222300|16199549|16151013|16131611|16079851|16033918|15977174|15924142|15907477|15888486|15865944|15851479|15829965|15829956|15781852|15741269|15695383|15657147|15654339|15607981|15607980|15580553|15525938|15358195|15355915|15186775|15121773|15077116|14976551|14965474|14963330|12872134|12690203|12673251|12667443|12619118|12619103|12569127|12567188|12567186|12524418|12438652|12426394|12402042|12397362|12397361|12384701|12355087|12119414|12110179|12086865|12085209|12032546|12021785|12015983|12007217|11990853|11960007|11923872|11859195|11812429|11788563|11780126|11780111|11753428|11751630|11740489|11707411|11694875|11672523|11672522|11602639|11600572|11591730|11559530|11557844|11528480|11511362|11481490|11403041|11397945|11245491|11239457|11099047|11050162|11030628|10973261|10973245|10949306|10910364|10882116|10879542|10802655|10797439|10786799|10786798|10783170|10778860|10778859|10710310|10617466|10539880|10486318|10484981|10477429|10447253|10436160|9891044|9822382|9732264|9607760|9569035|9421473|9380731|9363941|9329980|9305847|9278438|9108075|9039259|9033644|9016527|8975713|8832894|8829653|8782455|8718514|8673929|8649785|8596939|8594565|8594564|8529218|8516323|8513440|8423216|8414502|8413413|8401536|8397412|8364550|8361764|8308926|8276238|8268772|8266092|8248141|8242752|8242751|8191284|8134127|8118819|8028670|8028656|8023157|7997263|7987394|7903477|7878469|7854378|7761466|7729941|7728149|7704023|7663513|7663512|7597093|7531056|7521539|6405385|3929142|3916151|3903515|3894933|3456488|3409256|3346104|3338800|3005871|3001719|2994241|2946935|2839831|2823272|2649981|2554494|2531845|2476668|2274789|2263646|2259385|2218501|2164047|2144363|2143022|2046748|2024123|1999338|1979160|1978757|1975675|1969059|1946433|1933902|1924299|1905840|1849234|1737852|1699228|1697983|1683921|1679237|1673792|1672732|1644930|1631151|1631137|1614538|1591732|1565144|1565143|1552940|1505019|1430194|1353891|1352566|1349175|1349102|1347900|1330291|1329103|1314165|1301998	REGULATION_OF_BIOLOGICAL_QUALITY;DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;PROTEIN_OLIGOMERIZATION;DNA_REPAIR;REGULATION_OF_HYDROLASE_ACTIVITY;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;RESPONSE_TO_EXTRACELLULAR_STIMULUS;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_CYCLE;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_GROWTH;CELLULAR_RESPONSE_TO_STRESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_GROWTH;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_NUTRIENT_LEVELS;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;MITOCHONDRIAL_MEMBRANE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CASPASE_ACTIVITY;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;MITOCHONDRION_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;GROWTH;AGING;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;RESPONSE_TO_BIOTIC_STIMULUS;MACROMOLECULE_LOCALIZATION;CELLULAR_RESPONSE_TO_STIMULUS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;TRANSPORT;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;REGULATION_OF_CATALYTIC_ACTIVITY;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;NUCLEOTIDE_EXCISION_REPAIR;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;CELL_CYCLE_ARREST_GO_0007050;CELL_CYCLE_GO_0007049;ER_NUCLEAR_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;APOPTOTIC_PROGRAM;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;BASE_EXCISION_REPAIR;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;MITOCHONDRIAL_TRANSPORT;REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_TRANSCRIPTION;APOPTOSIS_GO;CELLULAR_RESPONSE_TO_NUTRIENT_LEVELS;REGULATION_OF_CELL_GROWTH;CASPASE_ACTIVATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	NUCLEOPLASM;ORGANELLE_PART;CYTOPLASMIC_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;INSOLUBLE_FRACTION;NUCLEUS;CELL_FRACTION;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;NUCLEOLUS	NUCLEOTIDE_BINDING;COPPER_ION_BINDING;CATION_BINDING;ZINC_ION_BINDING;PURINE_NUCLEOTIDE_BINDING;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PROTEIN_N_TERMINUS_BINDING;ION_BINDING;DOUBLE_STRANDED_DNA_BINDING;TRANSCRIPTION_FACTOR_ACTIVITY;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING;CHROMATIN_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;TRANSITION_METAL_ION_BINDING;NUCLEASE_ACTIVITY;DNA_BINDING;ATP_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_WNT_SIGNALING_PATHWAY;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS;KEGG_HUNTINGTONS_DISEASE;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_THYROID_CANCER;KEGG_BASAL_CELL_CARCINOMA;KEGG_MELANOMA;KEGG_BLADDER_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_HDAC_CLASSIII_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_LKB1_PATHWAY;PID_REG_GR_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_P75NTRPATHWAY;PID_AP1_PATHWAY;PID_HIF1APATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY;PID_AURORA_A_PATHWAY;PID_BARD1PATHWAY;PID_P53REGULATIONPATHWAY	BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_ATM_PATHWAY;BIOCARTA_G1_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_TID_PATHWAY;BIOCARTA_CTCF_PATHWAY;BIOCARTA_RNA_PATHWAY;BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_P53_PATHWAY;BIOCARTA_RB_PATHWAY;BIOCARTA_PML_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_ARF_PATHWAY	REACTOME_CELL_CYCLE;REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_APOPTOSIS;REACTOME_HEMOSTASIS;REACTOME_ACTIVATION_OF_BH3_ONLY_PROTEINS;REACTOME_INTRINSIC_PATHWAY_FOR_APOPTOSIS	PS1,PS3,BA1
L	17	7915912	rs34598902	C	T	222.55	PASS	GUCY2D	guanylate cyclase 2D, membrane (retina-specific)	exonic	NM_000180	.	missense SNV	GUCY2D:NM_000180:exon10:c.C2101T:p.P701S	ENST00000254854.4	.	17p13.1	.	.	Score=808;Name=V$HNF4_01	.	.	rs34598902	CLINSIG=Likely benign|Benign;CLNDBN=not_provided|not_specified;CLNACC=RCV000084851.2|RCV000173653.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374	.	0.210963	0.2173	0.0832668	0.0258	0.0516	0.2185	0.1730472634	0.177884272837	0.152,T	0.395,B	0.792,P	1,P	0.000152,D	1.315,L	-1.5,D	9.328	1.494	2.217	3.013651,22.3	4.37	AC=12;AN=22;BQB=0.902354;DP4=93,111,116,131;DP=618;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.744528;SF=1,3,5,8,9,11,14,17,20,21,24;SGB=-0.692562;VDB=0.00348894	GT:DP:DV:PL	.	0/1:42:22:255,0,255	.	0/1:39:17:255,0,255	.	0/1:48:24:255,0,255	.	.	0/1:36:18:255,0,255	0/1:40:20:255,0,255	.	1/1:42:42:255,126,0	.	.	0/1:37:16:255,0,255	.	.	0/1:30:14:255,0,255	.	.	0/1:37:20:255,0,255	0/1:61:34:255,0,255	.	.	0/1:39:20:255,0,255	C	T	1	10	Leber congenital amaurosis 1, 204000 (3); Cone-rod dystrophy 6, 601777 (3)	.	Leber congenital amaurosis(CM994059)	CCC-TCC|Pro701Ser|c.2101C>T|p.P701S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11035546&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18055820&dopt=Abstract)	11035546|20981092|18055820|24997176|21078983|20517349|12552567|12325031|11709018|11565546|11115851|10951519|10676808|10647719|9888789|9683616|9618177|9097965|8944027|8838319|8641699|8554074|7831337|7806240|7581387|1356371	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	ORGANELLE_PART;INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;NUCLEUS;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;OUTER_MEMBRANE;ENVELOPE;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;ORGANELLE_OUTER_MEMBRANE;ORGANELLE_ENVELOPE;INTEGRAL_TO_PLASMA_MEMBRANE;NUCLEAR_ENVELOPE;NUCLEAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;NUCLEAR_MEMBRANE_PART;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PHOSPHORUS_OXYGEN_LYASE_ACTIVITY;LYASE_ACTIVITY;RECEPTOR_ACTIVITY;CYCLASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_OLFACTORY_TRANSDUCTION	PID_CONE_PATHWAY;PID_RHODOPSIN_PATHWAY	.	.	PS1,PS3,BA1
L	17	17122327	rs8065832	G	A	196.92	PASS	FLCN	folliculin	splicing	NM_144997	NM_144997:exon9:c.1062+6C>T	.	.	ENST00000427497.3,ENST00000285071.4	.	17p11.2	.	.	Score=919;Name=V$AREB6_01	.	.	rs8065832	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000082618.4;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.699336	0.6974	0.502995	0.4491	0.5023	0.6547	0.699336	0.618990807692	.	.	.	.	.	.	.	.	-1.183	-0.498	.	.	AC=34;AN=48;BQB=0.968386;DP4=182,10,383,21;DP=752;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.769328;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.683931;VDB=0.0445127	GT:DP:DV:PL	1/1:13:13:255,39,0	0/1:21:8:144,0,210	1/1:8:8:206,24,0	0/1:25:15:237,0,194	0/1:19:9:199,0,170	0/1:50:25:255,0,206	1/1:16:16:255,48,0	0/1:24:13:240,0,247	0/1:30:16:243,0,223	0/1:14:8:180,0,114	0/1:23:7:170,0,255	1/1:28:28:255,84,0	1/1:18:18:255,54,0	1/1:27:27:255,81,0	0/1:31:18:255,0,190	0/1:21:7:136,0,234	1/1:22:22:255,66,0	1/1:17:17:255,51,0	1/1:18:18:236,54,0	0/1:16:7:181,0,167	0/1:17:11:227,0,130	0/1:54:31:255,0,240	.	1/1:39:39:255,117,0	0/1:45:23:255,0,245	G	A	10	14	Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary spontaneous, 173600 (3); Renal carcinoma, chromophobe, somatic, 144700 (3); Colorectal cancer, somatic, 114500 (3)	.	Colorectal cancer, reduced risk, association(CS033516)	IVS9 ds C-T +6|c.1062+6C>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14627671&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19733897&dopt=Abstract)	14627671|19733897|20522427|20413710|19850877|19843504|19562744|19320655|19234517|18505456|18234728|17496196|17028174|15852235|15657874|14769940|14532326|12843323|12746401|12471204|12204536|11714437	.	.	.	KEGG_RENAL_CELL_CARCINOMA	.	.	.	PS1,PS3,BA1
L	17	17697099	rs11078398	G	A	87.49	PASS	RAI1	retinoic acid induced 1	exonic	NM_030665	.	synonymous SNV	RAI1:NM_030665:exon3:c.G837A:p.Q279Q	ENST00000261641.6,ENST00000353383.1	.	17p11.2	.	.	.	.	Score=369;Name="1842419:(CAG)n(Simple_repeat)"	rs11078398	CLINSIG=Benign|Benign;CLNDBN=not_specified|not_provided;CLNACC=RCV000082276.5|RCV000127715.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.842193	0.8333	0.548722	0.3007	0.0587	0.4231	0.842193	0.623798296875	.	.	.	.	.	.	.	.	0.045	2.611	.	.	AC=25;AN=38;BQB=0.612751;DP4=69,22,90,148;DP=1622;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00328731;SF=0,1,2,3,4,5,7,8,9,10,13,14,15,18,19,20,21,23,24;SGB=-0.686358;VDB=7.87664e-05	GT:DP:DV:PL	0/1:20:14:126,0,55	1/1:16:15:148,18,0	0/1:16:13:114,0,19	0/1:29:6:63,0,255	1/1:14:13:139,18,0	0/1:23:18:185,0,31	.	0/1:12:8:106,0,32	0/1:11:7:91,0,43	1/1:8:7:94,3,0	1/1:6:5:64,0,3	.	.	0/1:23:17:128,0,62	0/1:13:11:125,0,11	0/1:14:10:106,0,65	.	.	0/1:18:8:83,0,191	0/1:12:10:113,0,4	0/1:16:12:134,0,43	0/1:40:30:154,0,23	.	1/1:23:20:144,2,0	1/1:15:14:148,20,0	G	A	6	13	Smith-Magenis syndrome, 182290 (3)	.	Colorectal cancer(CD136162)	ATGAC^278CAGCAgcAGCAGCAGCA|c.837_838delGC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23585368&dopt=Abstract)	23585368|22578325|18285828|17041942|17024248|16845274|15788730|15746153|15565467|15459175|14709593|12837267|12724422|12652298|11404004|10915763|10581491|10036180	.	.	.	.	.	.	.	PS1,PS3,BA1
L	17	18023897	rs2955365	G	A	225.43	PASS	MYO15A	myosin XVA	exonic	NM_016239	.	missense SNV	MYO15A:NM_016239:exon2:c.G1783A:p.A595T	ENST00000205890.5	CpG: 244	17p11.2	.	.	Score=796;Name=V$PAX5_02	.	.	rs2955365	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000175877.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.652824	0.6567	0.553514	0.3354	0.5289	0.6756	0.493874707504	0.587740358173	0.003,D	0.186,B	0.689,P	0.875075,P	.	1.445,L	-2.47,D	12.164	2.122	1.488	3.510634,23.1	3.58	AC=33;AN=42;BQB=0.949605;DP4=112,95,444,377;DP=1469;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965977;SF=0,1,2,3,4,6,7,8,9,10,11,13,14,15,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.0361876	GT:DP:DV:PL	0/1:38:18:255,0,255	1/1:35:35:255,105,0	1/1:77:77:255,232,0	0/1:38:20:255,0,255	0/1:41:27:255,0,255	.	0/1:38:24:255,0,255	0/1:43:17:255,0,255	1/1:26:26:255,78,0	1/1:33:33:255,99,0	1/1:59:59:255,178,0	1/1:43:43:255,129,0	.	1/1:61:61:255,184,0	0/1:45:25:255,0,255	0/1:44:20:255,0,255	.	.	1/1:34:34:255,102,0	1/1:61:61:255,184,0	1/1:50:50:255,151,0	1/1:85:85:255,255,0	1/1:40:40:255,120,0	0/1:62:31:255,0,255	0/1:75:35:255,0,255	G	A	12	9	Deafness, autosomal recessive 3, 600316 (3)	.	Deafness(CM1411115)	GCC-ACC|Ala595Thr|c.1783G>A|p.A595T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25342930&dopt=Abstract)	25342930|21236676|17853461|17851452|17546645|15654330|15590698|12966030|11735029|10915760|10552926|9603736|9603735|7704031	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	17	18024266	rs2955367	T	G	206.5	PASS	MYO15A	myosin XVA	exonic	NM_016239	.	missense SNV	MYO15A:NM_016239:exon2:c.T2152G:p.W718G	ENST00000205890.5	CpG: 244	17p11.2	.	.	Score=764;Name=V$YY1_02	.	.	rs2955367	.	.	0.652824	0.6567	0.496006	.	0.6112	0.5821	0.480857715161	0.587740358173	0.0,D	0.161,B	0.808,P	0.867108,P	.	1.79,L	-2.39,D	3.0044	1.516	0.549	1.131029,11.38	3	AC=33;AN=40;BQB=0.895781;DP4=81,6,246,40;DP=550;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.00775;MQSB=0.916482;RPB=0.895781;SF=0,1,2,4,6,7,8,9,10,11,13,14,15,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.535497	GT:DP:DV:PL	0/1:10:4:149,0,208	1/1:20:20:255,60,0	1/1:20:20:255,60,0	.	0/1:18:10:206,0,192	.	0/1:13:5:159,0,239	0/1:18:6:177,0,248	1/1:13:13:255,39,0	1/1:12:12:255,36,0	1/1:22:22:255,66,0	1/1:9:9:228,27,0	.	1/1:21:21:255,63,0	0/1:28:14:255,0,255	1/1:11:10:255,0,4	.	.	1/1:10:10:227,30,0	1/1:15:15:255,45,0	1/1:10:10:255,30,0	1/1:30:30:255,90,0	1/1:15:15:255,45,0	0/1:40:21:255,0,255	0/1:38:19:255,0,255	T	G	13	7	Deafness, autosomal recessive 3, 600316 (3)	.	Deafness(CM1411116)	TGG-GGG|Trp718Gly|c.2152T>G|p.W718G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25342930&dopt=Abstract)	25342930|21236676|17853461|17851452|17546645|15654330|15590698|12966030|11735029|10915760|10552926|9603736|9603735|7704031	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	.	.	.	.	.	PS1,PS3,BA1
L	17	26096597	rs2297518	G	A	146.4	PASS	NOS2	nitric oxide synthase 2, inducible	exonic	NM_000625	.	missense SNV	NOS2:NM_000625:exon16:c.C1823T:p.S608L	ENST00000313735.6	.	17q11.2	.	.	Score=816;Name=V$GFI1_01	Score=0.925151;Name=chr17:25960314	.	rs2297518	.	.	0.162791	0.1518	0.165335	0.1676	0.1777	0.1432	0.162791	0.158654040865	0.084,T	0.623,P	0.918,P	0.000946193,P	0.000940,D	1.505,L	-0.83,T	17.4604	2.464	6.204	5.543311,26.4	5.27	AC=6;AN=10;BQB=0.95494;DP4=21,4,40,5;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.6821;SF=0,11,12,17,20;SGB=-0.590765;VDB=0.644504	GT:DP:DV:PL	0/1:12:5:145,0,211	.	.	.	.	.	.	.	.	.	.	0/1:13:10:220,0,81	1/1:17:17:255,51,0	.	.	.	.	0/1:12:5:103,0,227	.	.	0/1:16:8:169,0,252	.	.	.	.	G	A	1	4	{Hypertension, susceptibility to}, 145500 (2); {Malaria, resistance to}, 611162 (3)	.	Non-Hodgkin lymphoma, increased risk, association with(CM066586)	TCG-TTG|Ser608Leu|c.1823C>T|p.S608L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16543247&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21716319&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18287876&dopt=Abstract)	16543247|21716319|18287876|26228140|23630227|23160153|21729780|19575238|17713535|17709521|17159127|16908860|16823855|16373578|15372109|14976157|12433515|12221289|12119230|11921057|11810305|11810304|11702222|11397889|10922044|10852470|10426995|10320373|9916929|9457101|9284131|8645258|8642338|7723795|7682706|7558036|7544003|7528168|7522210|7521235|7514570|7514565|7509810|7504305|1379716|1377225	MULTI_ORGANISM_PROCESS;SUPEROXIDE_METABOLIC_PROCESS;DEFENSE_RESPONSE;RESPONSE_TO_BACTERIUM;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;DEFENSE_RESPONSE_TO_BACTERIUM	CYTOPLASM	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PEROXISOME;KEGG_LEISHMANIA_INFECTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_IL12_2PATHWAY;PID_INTEGRIN_A9B1_PATHWAY;PID_ATF2_PATHWAY;PID_IL23PATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY;PID_HIF1_TFPATHWAY	BIOCARTA_PPARA_PATHWAY;BIOCARTA_NO2IL12_PATHWAY	REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	17	26105932	rs1137933	G	A	222.67	PASS	NOS2	nitric oxide synthase 2, inducible	exonic	NM_000625	.	synonymous SNV	NOS2:NM_000625:exon10:c.C1155T:p.D385D	ENST00000313735.6	.	17q11.2	.	.	Score=810;Name=V$CEBP_C	.	.	rs1137933	.	.	0.182724	0.1736	0.194489	0.2125	0.2070	0.1628	0.137825294946	0.170672774038	.	.	.	.	.	.	.	.	-1.820	-0.650	0.945813,10.35	.	AC=10;AN=18;BQB=0.767898;DP4=286,134,389,176;DP=1344;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0954256;SF=0,7,10,11,12,17,20,21,23;SGB=-0.693147;VDB=0.423574	GT:DP:DV:PL	0/1:106:52:255,0,255	.	.	.	.	.	.	0/1:131:76:255,0,255	.	.	0/1:95:40:255,0,255	0/1:72:40:255,0,255	1/1:98:98:255,255,0	.	.	.	.	0/1:70:37:255,0,255	.	.	0/1:109:59:255,0,255	0/1:166:82:255,0,255	.	0/1:138:81:255,0,255	.	G	A	1	8	{Hypertension, susceptibility to}, 145500 (2); {Malaria, resistance to}, 611162 (3)	.	Multiple sclerosis, association with(CM041814)	GAC-GAT|Asp385Asp|c.1155C>T|p.D385D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15174013&dopt=Abstract)	15174013|26228140|23630227|23160153|21729780|19575238|17713535|17709521|17159127|16908860|16823855|16373578|15372109|14976157|12433515|12221289|12119230|11921057|11810305|11810304|11702222|11397889|10922044|10852470|10426995|10320373|9916929|9457101|9284131|8645258|8642338|7723795|7682706|7558036|7544003|7528168|7522210|7521235|7514570|7514565|7509810|7504305|1379716|1377225	MULTI_ORGANISM_PROCESS;SUPEROXIDE_METABOLIC_PROCESS;DEFENSE_RESPONSE;RESPONSE_TO_BACTERIUM;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;DEFENSE_RESPONSE_TO_BACTERIUM	CYTOPLASM	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PEROXISOME;KEGG_LEISHMANIA_INFECTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_IL12_2PATHWAY;PID_INTEGRIN_A9B1_PATHWAY;PID_ATF2_PATHWAY;PID_IL23PATHWAY;PID_P38ALPHABETADOWNSTREAMPATHWAY;PID_HIF1_TFPATHWAY	BIOCARTA_PPARA_PATHWAY;BIOCARTA_NO2IL12_PATHWAY	REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	17	28576076	rs1050565	T	C	181.2	PASS	BLMH	bleomycin hydrolase	exonic	NM_000386	.	missense SNV	BLMH:NM_000386:exon12:c.A1327G:p.I443V	ENST00000261714.6,ENST00000394819.3,ENST00000577420.1	.	17q11.2	.	.	Score=857;Name=V$GATA1_03	.	.	rs1050565	CLINSIG=Benign;CLNDBN=BLEOMYCIN_HYDROLASE_POLYMORPHISM;CLNACC=RCV000007670.2;CLNDSDB=.;CLNDSDBID=.	.	0.17608	0.1736	0.253794	0.2854	0.2998	0.1751	0.132465690658	0.15144249399	1.0,T	0.0,B	0.0,B	0.999988,P	0.034224,N	-2.3,N	1.06,T	9.4628	0.080	1.148	.	.	AC=6;AN=10;BQB=0.368713;DP4=55,5,65,11;DP=184;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.30215;SF=1,16,18,20,24;SGB=-0.511536;VDB=0.259298	GT:DP:DV:PL	.	0/1:16:3:97,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:18:255,0,255	.	0/1:24:10:205,0,230	.	0/1:28:15:255,0,255	.	.	.	1/1:30:30:255,90,0	T	C	1	4	{Alzheimer disease, susceptibility to}, 104300 (3)	.	Alzheimer disease, association with(CM980214)	ATC-GTC|Ile443Val|c.1327A>G|p.I443V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9500538&dopt=Abstract)	9500538|12140188|9818937|9546396|9500538|9407121|9331073|8653703|8639621|8620487|6190169|2466800	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASM;NUCLEUS	EXOPEPTIDASE_ACTIVITY;CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;CARBOXYPEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;AMINOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	PS1,PS3,BA1
L	17	29508775	rs1801052	G	A	182.5	PASS	NF1	neurofibromin 1	exonic	NM_000267,NM_001042492,NM_001128147	.	synonymous SNV	NF1:NM_000267:exon7:c.G702A:p.L234L,NF1:NM_001042492:exon7:c.G702A:p.L234L,NF1:NM_001128147:exon7:c.G702A:p.L234L	ENST00000431387.4,ENST00000358273.4,ENST00000356175.3	.	17q11.2	.	.	Score=796;Name=V$OCT1_04	.	.	rs1801052	CLINSIG=Benign;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000162647.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009	.	0.549834	0.5506	0.511781	0.5744	0.6228	0.5566	0.441807194487	0.479567341346	.	.	.	.	.	.	.	.	-3.805	-2.771	.	.	AC=28;AN=44;BQB=0.222635;DP4=92,23,150,58;DP=469;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.197899;SF=0,1,2,3,4,5,6,7,8,9,10,11,14,15,16,17,18,20,21,22,23,24;SGB=-0.662043;VDB=0.0227532	GT:DP:DV:PL	0/1:14:9:255,0,125	0/1:14:4:142,0,230	0/1:14:10:255,0,114	0/1:13:9:242,0,123	0/1:18:10:255,0,163	0/1:23:11:255,0,255	0/1:14:9:242,0,170	0/1:18:10:241,0,220	1/1:14:14:255,42,0	1/1:10:10:255,30,0	1/1:16:16:255,48,0	0/1:17:4:93,0,255	.	.	0/1:13:8:255,0,150	0/1:17:9:218,0,201	1/1:23:23:255,69,0	1/1:12:12:255,36,0	0/1:16:8:168,0,230	.	0/1:13:8:181,0,139	0/1:18:8:200,0,247	0/1:5:2:96,0,90	0/1:9:2:84,0,208	1/1:12:12:255,36,0	G	A	6	16	Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile myelomonocytic, 607785 (3); Neurofibromatosis, familial spinal, 162210 (3); Neurofibromatosis-Noonan syndrome, 601321 (3); Watson syndrome, 193520 (3)	.	Neurofibromatosis 1(CD148107)	TTACA^233AAACTgtACCAGATCCC|c.702_703delGT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25078596&dopt=Abstract)	25078596|19845691|19449407|19417008|18772890|17406642|17317783|17160901|16813595|16614224|16542390|16380919|15948193|15846561|15523642|15520408|15338462|14635100|14569132|13680360|12746402|12707950|12698359|12566521|12509773|12483293|12438263|12384794|12114529|11967553|11941479|11906692|11727199|11704931|11479742|11258625|11257108|11137998|11129335|10862084|10862084|10721668|10712197|10677298|10607834|10593996|10543400|10459349|9668168|9639526|9529361|9463322|9300663|9207339|9195229|9180088|9150739|9132486|9115204|9115203|9054942|9012403|9003501|8807336|8740913|8664912|8602361|8516298|8430317|8385067|8341688|8317503|8069310|7903661|7874161|7774960|7671302|7649559|7633431|7586657|7514569|3128965|2511318|2411134|2169593|2134734|2127432|2116237|1946460|1946382|1937470|1783401|1770531|1757093|1745350|1719426|1694727|1639383|1570015|1568247|1568246|1550670|1505963|1483690|1302608|1301957	REGULATION_OF_BIOLOGICAL_QUALITY;MUSCLE_DEVELOPMENT;NUCLEAR_IMPORT;REGULATION_OF_HYDROLASE_ACTIVITY;SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;NEGATIVE_REGULATION_OF_TRANSPORT;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_CELL_MIGRATION;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;SKELETAL_DEVELOPMENT;NUCLEAR_TRANSPORT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RESPONSE_TO_LIGHT_STIMULUS;PROTEIN_TARGETING;REGULATION_OF_MAPKKK_CASCADE;PROTEIN_IMPORT;TISSUE_DEVELOPMENT;ACTIN_FILAMENT_BASED_PROCESS;BEHAVIOR;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_NEURONS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;CELL_CELL_SIGNALING;ORGAN_MORPHOGENESIS;CELL_SUBSTRATE_ADHESION;REGULATION_OF_HOMEOSTATIC_PROCESS;ENDOTHELIAL_CELL_PROLIFERATION;NEGATIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT;RESPONSE_TO_STRESS;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;PROTEIN_IMPORT_INTO_NUCLEUS;REGULATION_OF_CELL_DIFFERENTIATION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANGIOGENESIS;REGULATION_OF_ANGIOGENESIS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ACTION_POTENTIAL;RESPONSE_TO_ABIOTIC_STIMULUS;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;PROTEIN_KINASE_CASCADE;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;MACROMOLECULE_LOCALIZATION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;REGULATION_OF_MAP_KINASE_ACTIVITY;HOMEOSTATIC_PROCESS;VASCULATURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_CATALYTIC_ACTIVITY;GLIOGENESIS;NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;REGULATION_OF_INTRACELLULAR_TRANSPORT;BONE_REMODELING;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;LEARNING_AND_OR_MEMORY;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;REGULATION_OF_NEUROGENESIS;NEUROGENESIS;RESPONSE_TO_RADIATION;GLAND_DEVELOPMENT;HEART_DEVELOPMENT;CELLULAR_LOCALIZATION;MAPKKK_CASCADE_GO_0000165;REGULATION_OF_TRANSPORT;ENDOTHELIAL_CELL_MIGRATION;PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;REGULATION_OF_GTPASE_ACTIVITY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;REGULATION_OF_NEURON_APOPTOSIS;RESPONSE_TO_WOUNDING;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;TISSUE_REMODELING;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_TRANSPORT;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;NEURON_APOPTOSIS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;CELL_MIGRATION;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;ORGAN_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;INTRACELLULAR_SIGNALING_CASCADE;NEGATIVE_REGULATION_OF_CELL_MIGRATION;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;SYSTEM_PROCESS;REGULATION_OF_RAS_GTPASE_ACTIVITY;SENSORY_ORGAN_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;APOPTOSIS_GO;NUCLEOCYTOPLASMIC_TRANSPORT;RESPONSE_TO_HYPOXIA;CAMP_MEDIATED_SIGNALING;REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_ENDOTHELIAL_CELL_PROLIFERATION	AXON;CYTOPLASM;NUCLEUS;CELL_PROJECTION;DENDRITE;NEURON_PROJECTION	RAS_GTPASE_ACTIVATOR_ACTIVITY;GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;GTPASE_ACTIVATOR_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY	PID_HNF3BPATHWAY;PID_ATF2_PATHWAY;PID_SYNDECAN_2_PATHWAY;PID_RAS_PATHWAY	.	.	PS1,PS3,BA1
L	17	37884037	rs1058808	C	G	224.12	PASS	ERBB2	erb-b2 receptor tyrosine kinase 2	exonic	NM_001005862,NM_001289936,NM_004448	.	missense SNV	ERBB2:NM_004448:exon27:c.C3508G:p.P1170A,ERBB2:NM_001005862:exon30:c.C3418G:p.P1140A,ERBB2:NM_001289936:exon31:c.C3463G:p.P1155A	ENST00000269571.5,ENST00000541774.1,ENST00000540147.1,ENST00000445658.2,ENST00000584601.1,ENST00000406381.2,ENST00000584450.1	.	17q12	.	.	.	.	.	rs1058808	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120753.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.403654	0.4018	0.452077	0.5135	0.6070	0.3758	0.349923059724	0.382211199519	0.03,D	0.607,P	0.953,P	1e-37,P	.	0.695,N	-0.81,T	18.0073	2.326	3.926	4.041317,23.7	5.04	AC=23;AN=34;BQB=0.725465;DP4=331,181,633,367;DP=1874;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.2712;SF=0,3,4,5,7,8,9,10,12,13,15,16,17,20,21,23,24;SGB=-0.693147;VDB=0.676968	GT:DP:DV:PL	1/1:76:76:255,229,0	.	.	0/1:65:34:255,0,255	0/1:84:43:255,0,255	0/1:147:68:255,0,255	.	0/1:86:33:255,0,255	0/1:83:38:255,0,255	0/1:53:25:255,0,255	0/1:84:47:255,0,255	.	1/1:77:77:255,232,0	0/1:112:54:255,0,255	.	1/1:69:69:255,205,0	1/1:73:72:255,194,0	0/1:61:23:255,0,255	.	.	0/1:68:30:255,0,255	1/1:152:152:255,255,0	.	0/1:127:64:255,0,255	1/1:95:95:255,255,0	C	G	6	11	Adenocarcinoma of lung, somatic, 211980 (3); Glioblastoma, somatic, 137800 (3); Gastric cancer, somatic, 613659 (3); Ovarian cancer, somatic, (3)	.	Lung cancer, increased risk in females, non-smokers and non-drinkers(CM087578)	CCC-GCC|Pro1170Ala|c.3508C>G|p.P1170A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19055823&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23332978&dopt=Abstract)	19055823|24728327|23332978|24739973|19718021|19299620|19005469|18772890|17043217|16901783|16892039|16598037|16273093|15976301|15569931|15457249|15372086|15311210|15235125|14570715|12646923|12610629|12526770|12166652|12072561|12052879|12049736|11984589|11904400|11867754|11809799|11248153|11238891|10699071|10655525|10485918|10446211|10399934|10066072|9844631|9811454|9667258|9590694|9247307|9154120|8244378|8095488|3945311|3511905|3102433|3012781|3003577|2999974|2995967|2903446|2885917|2565881|2470152|2430175|1681519	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;GLAND_DEVELOPMENT;HEART_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT;REGULATION_OF_CELL_PROLIFERATION	EXTRACELLULAR_REGION	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_BINDING;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PROTEIN_DIMERIZATION_ACTIVITY;CYTOKINE_ACTIVITY	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_PROSTATE_CANCER;KEGG_BLADDER_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_ERBB4_PATHWAY;PID_ERBB2ERBB3PATHWAY;PID_ERBB_NETWORK_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_MYC_REPRESSPATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_DOWNREGULATION_OF_ERBB2_ERBB3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_GRB2_EVENTS_IN_ERBB2_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_AXON_GUIDANCE;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	PS1,PS3,BA1
L	17	39742718	rs3826549	A	G	228	PASS	KRT14	keratin 14, type I	exonic	NM_000526	.	synonymous SNV	KRT14:NM_000526:exon1:c.T369C:p.N123N	ENST00000167586.6	.	17q21.2	.	.	Score=914;Name=V$TCF11_01	Score=0.947621;Name=chr17:16716990	.	rs3826549	CLINSIG=not provided\x2cnot provided;CLNDBN=not_provided\x2cnot_provided;CLNACC=RCV000056715.1,RCV000056714.1;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN221809\x2cCN221809	.	0.94186	0.9425	0.680511	.	0.6375	0.9478	0.94186	0.850961069712	.	.	.	.	.	.	.	.	-0.673	-0.466	.	.	AC=50;AN=50;BQB=1;DP4=1,2,1062,211;DP=1665;MQ0F=0;MQ=56;MQB=1;MQSB=0.98752;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.21725	GT:DP:DV:PL	1/1:48:48:255,144,0	1/1:50:50:255,151,0	1/1:42:42:255,126,0	1/1:56:56:255,169,0	1/1:37:37:255,111,0	1/1:73:73:255,220,0	1/1:49:49:255,148,0	1/1:63:63:255,190,0	1/1:31:31:255,93,0	1/1:28:28:255,84,0	1/1:57:57:255,172,0	1/1:41:41:255,123,0	1/1:42:42:255,126,0	1/1:59:59:255,178,0	1/1:49:49:255,148,0	1/1:33:33:255,99,0	1/1:43:42:255,93,0	1/1:34:34:255,102,0	1/1:42:42:255,126,0	1/1:54:54:255,163,0	1/1:50:50:255,151,0	1/1:103:102:255,255,0	1/1:20:20:255,60,0	1/1:99:98:255,255,0	1/1:73:73:255,220,0	A	G	25	0	Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3); Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3); Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3); Dermatopathia pigmentosa reticularis, 125595 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)	.	Epidermolysis bullosa, Dowling-Meara(CM044651)	AAT-AAA|Asn123Lys|c.369T>A|p.N123K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14987259&dopt=Abstract)	14987259|23760480|16960809|16117782|16098032|13141721|12230514|11331879|10998145|10971341|10733662|10730767|10583131|9804355|9284105|8875963|8807337|8661035|8496458|7682883|7561171|7526933|7525408|7525407|7506606|6210150|6186381|2580298|2451124|2442174|1720261|1717157|1713141|1703046|1376637|1303619	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	PID_REG_GR_PATHWAY;PID_DELTANP63PATHWAY	.	.	PS1,PS3,BA1
L	17	41223094	rs1799966	T	C	221.9	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007298,NM_007299,NM_007300	.	missense SNV	BRCA1:NM_007297:exon14:c.A4696G:p.S1566G,BRCA1:NM_007298:exon14:c.A1525G:p.S509G,BRCA1:NM_007294:exon15:c.A4837G:p.S1613G,BRCA1:NM_007299:exon15:c.A1525G:p.S509G,BRCA1:NM_007300:exon16:c.A4900G:p.S1634G	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	Score=876;Name=V$E47_02	.	.	rs1799966	CLINSIG=other|Likely benign|Likely benign|Likely benign\x2cBenign|Benign|Benign|Benign|Benign|Benign;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome\x2cnot_provided|Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1|Hereditary_breast_and_ovarian_cancer_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000031194.5|RCV000048673.4|RCV000130704.2|RCV000167795.2,RCV000034753.3|RCV000048672.5|RCV000112410.4|RCV000119096.2|RCV000120260.4|RCV000128996.2;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen:Orphanet\x2cMedGen|MedGen:OMIM:SNOMED_CT|MedGen:OMIM|MedGen:Orphanet|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C2676676:604370|C0346153:114480:254843006|C0027672:699346009|C0677776:ORPHA145\x2cCN221809|C0346153:114480:254843006|C2676676:604370|C0677776:ORPHA145|CN169374|C0027672:699346009	.	0.406977	0.372	0.355831	0.2982	0.3496	0.3805	0.313935799387	0.362980930288	0.032,D	0.115,B	0.459,P	1,P	0.372123,N	1.845,L	-1.93,D	6.8942	0.128	-0.112	.	.	AC=29;AN=42;BQB=0.7583;DP4=151,79,338,176;DP=996;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.711532;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.692067;VDB=0.563038	GT:DP:DV:PL	0/1:40:20:255,0,255	0/1:29:21:255,0,200	0/1:20:9:239,0,230	0/1:38:21:255,0,255	.	0/1:49:25:255,0,255	0/1:30:17:255,0,255	.	1/1:40:40:255,120,0	1/1:35:35:255,105,0	1/1:37:37:255,111,0	0/1:31:19:255,0,237	1/1:30:30:255,90,0	.	0/1:34:17:255,0,255	0/1:37:18:255,0,255	1/1:36:36:255,108,0	0/1:24:9:222,0,255	0/1:39:16:255,0,255	1/1:34:34:255,102,0	1/1:29:29:255,87,0	0/1:48:25:255,0,255	.	0/1:51:23:255,0,255	1/1:33:33:255,99,0	T	C	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Ovarian cancer(CM053798) || Breast cancer(CM1210129) || Breast and/or ovarian cancer(CD119485) || Breast cancer(CI045256)	AGT-TGT|Ser1613Cys|c.4837A>T|p.S1613C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15617999&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18992264&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21447777&dopt=Abstract) || AGT-GGT|Ser1613Gly|c.4837A>G|p.S1613G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22921312&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23249957&dopt=Abstract) || ATCTGCC^1612CAGaGTCCAGCTGC|c.4837delA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21702907&dopt=Abstract) || ATCTGCC^1612CAGgAGTCCAGCTG|c.4836dupG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15564800&dopt=Abstract)	15617999|18992264|21447777|22921312|24728327|23249957|21702907|15564800|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	41234470	rs1060915	A	G	214.71	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007298,NM_007299,NM_007300	.	synonymous SNV	BRCA1:NM_007297:exon11:c.T4167C:p.S1389S,BRCA1:NM_007298:exon11:c.T999C:p.S333S,BRCA1:NM_007294:exon12:c.T4308C:p.S1436S,BRCA1:NM_007299:exon12:c.T999C:p.S333S,BRCA1:NM_007300:exon12:c.T4308C:p.S1436S	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	.	.	.	rs1060915	CLINSIG=Benign|Benign|Benign|Benign;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNACC=RCV000112313.4|RCV000114988.2|RCV000128938.2|RCV000152866.3;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=C2676676:604370|C0346153:114480:254843006|C0027672:699346009|CN169374	.	0.405316	0.371	0.336262	0.2796	0.3431	0.3777	0.316233047473	0.361779100962	.	.	.	1,P	.	.	.	2.9468	0.129	-0.119	.	.	AC=29;AN=42;BQB=0.945118;DP4=125,44,271,78;DP=713;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.64957;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.689466;VDB=0.0203037	GT:DP:DV:PL	0/1:31:16:255,0,255	0/1:28:10:191,0,255	0/1:21:10:241,0,255	0/1:21:14:255,0,195	.	0/1:34:16:255,0,255	0/1:17:9:222,0,247	.	1/1:19:19:255,57,0	1/1:16:16:255,48,0	1/1:32:32:255,96,0	0/1:29:7:171,0,255	1/1:13:13:255,39,0	.	0/1:19:12:255,0,174	0/1:30:17:255,0,255	1/1:21:21:255,63,0	0/1:26:11:255,0,255	0/1:23:10:255,0,255	1/1:19:18:255,32,0	1/1:28:28:255,84,0	0/1:32:22:255,0,204	.	0/1:34:23:255,0,237	1/1:25:25:255,75,0	A	G	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Breast cancer(CD086610)	ATAAGT^1435GACTctTCTGCCCTTG|c.4307_4308delCT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18528753&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23479189&dopt=Abstract)	18528753|23479189|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	41244000	rs16942	T	C	218.57	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007300	.	missense SNV	BRCA1:NM_007297:exon9:c.A3407G:p.K1136R,BRCA1:NM_007294:exon10:c.A3548G:p.K1183R,BRCA1:NM_007300:exon10:c.A3548G:p.K1183R	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	.	.	.	rs16942	CLINSIG=Benign|Benign|Benign|Benign|Benign|Benign;CLNDBN=not_provided|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer\x2c_familial_1|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNACC=RCV000034742.3|RCV000048229.4|RCV000112115.4|RCV000120278.4|RCV000128991.2|RCV000157734.1;CLNDSDB=MedGen|MedGen:Orphanet|MedGen:OMIM|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:SNOMED_CT;CLNDSDBID=CN221809|C0677776:ORPHA145|C2676676:604370|CN169374|C0027672:699346009|C0346153:114480:254843006	.	0.405316	0.371	0.352636	0.2952	0.3490	0.3827	0.316233047473	0.361779100962	1.0,T	0.002,B	0.0,B	1,P	0.151790,N	-0.485,N	-0.35,T	7.8272	-0.437	-0.366	.	.	AC=29;AN=42;BQB=0.934673;DP4=105,62,229,149;DP=701;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995787;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.686358;VDB=0.557167	GT:DP:DV:PL	0/1:28:14:255,0,255	0/1:24:14:255,0,193	0/1:29:13:255,0,255	0/1:26:10:255,0,255	.	0/1:27:15:255,0,247	0/1:22:10:240,0,255	.	1/1:36:36:255,108,0	1/1:32:32:255,96,0	1/1:19:19:255,57,0	0/1:28:18:255,0,236	1/1:15:15:255,45,0	.	0/1:16:9:241,0,201	0/1:30:18:255,0,255	1/1:23:23:255,69,0	0/1:21:12:255,0,196	0/1:20:9:164,0,205	1/1:20:20:255,60,0	1/1:42:42:255,126,0	0/1:34:14:255,0,255	.	0/1:29:11:255,0,255	1/1:24:24:255,72,0	T	C	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Breast cancer, protection against, association with(CM058359)	AAA-AGA|Lys1183Arg|c.3548A>G|p.K1183R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16026807&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15235020&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21410590&dopt=Abstract)	16026807|15235020|21410590|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	41244435	rs16941	T	C	224.29	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007300	.	missense SNV	BRCA1:NM_007297:exon9:c.A2972G:p.E991G,BRCA1:NM_007294:exon10:c.A3113G:p.E1038G,BRCA1:NM_007300:exon10:c.A3113G:p.E1038G	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	.	.	.	rs16941	CLINSIG=Benign|Benign|Benign|Benign|Benign;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000034738.3|RCV000112006.4|RCV000114987.2|RCV000120276.4|RCV000128978.2;CLNDSDB=MedGen|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN221809|C2676676:604370|C0346153:114480:254843006|CN169374|C0027672:699346009	.	0.405316	0.371	0.335663	0.2790	0.3429	0.3777	0.316233047473	0.361779100962	0.028,D	0.606,P	0.936,P	1,P	0.155009,N	2.275,M	-1.24,T	6.1615	0.112	-0.481	2.989023,22.2	.	AC=29;AN=42;BQB=0.96283;DP4=151,135,364,239;DP=1148;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.779161;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.692067;VDB=0.0761887	GT:DP:DV:PL	0/1:53:20:255,0,255	0/1:42:27:255,0,255	0/1:27:13:255,0,255	0/1:48:28:255,0,255	.	0/1:52:28:255,0,255	0/1:48:26:255,0,255	.	1/1:36:36:255,108,0	1/1:41:41:255,123,0	1/1:42:42:255,126,0	0/1:45:23:255,0,255	1/1:24:24:255,72,0	.	0/1:34:17:255,0,255	0/1:55:29:255,0,255	1/1:43:43:255,129,0	0/1:37:20:255,0,255	0/1:48:19:255,0,255	1/1:33:33:255,99,0	1/1:44:44:255,132,0	0/1:43:21:255,0,255	.	0/1:43:18:255,0,255	1/1:51:51:255,154,0	T	C	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Endometriosis, association with(CM032861)	GAA-GGA|Glu1038Gly|c.3113A>G|p.E1038G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12568865&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15235020&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract)	12568865|15235020|24728327|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	41244936	rs799917	G	A	216.48	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007300	.	missense SNV	BRCA1:NM_007297:exon9:c.C2471T:p.P824L,BRCA1:NM_007294:exon10:c.C2612T:p.P871L,BRCA1:NM_007300:exon10:c.C2612T:p.P871L	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	.	.	.	rs799917	CLINSIG=Benign|Benign|Benign|Benign|Benign\x2cLikely benign\x2cnot provided|Uncertain significance;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome\x2cBreast-ovarian_cancer\x2c_familial_1\x2cFamilial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1;CLNACC=RCV000034735.3|RCV000111903.4|RCV000114986.2|RCV000120285.4|RCV000132149.2,RCV000077111.2,RCV000047899.2|RCV000111902.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen|MedGen:SNOMED_CT\x2cMedGen:OMIM\x2cMedGen:OMIM:SNOMED_CT|MedGen:OMIM;CLNDSDBID=CN221809|C2676676:604370|C0346153:114480:254843006|CN169374|C0027672:699346009\x2cC2676676:604370\x2cC0346153:114480:254843006|C2676676:604370	.	0.405316	0.371	0.54393	0.4932	0.4100	0.3780	0.316233047473	0.361779100962	1.0,T	0.0,B	0.0,B	2.19253e-13,P	0.001340,N	-3.445,N	-0.05,T	9.647	0.938	4.247	1.633248,14.03	5.04	AC=29;AN=42;BQB=0.775034;DP4=202,69,367,131;DP=1017;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.475923;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.692914;VDB=0.375463	GT:DP:DV:PL	0/1:43:25:255,0,255	0/1:34:16:255,0,255	0/1:34:18:255,0,255	0/1:43:19:255,0,255	.	0/1:32:19:255,0,255	0/1:37:16:255,0,255	.	1/1:49:49:255,148,0	1/1:33:33:255,99,0	1/1:25:25:255,75,0	0/1:32:9:232,0,255	1/1:30:30:255,90,0	.	0/1:35:16:255,0,255	0/1:35:9:168,0,255	1/1:32:32:255,96,0	0/1:36:17:255,0,255	0/1:50:24:255,0,255	1/1:27:27:255,81,0	1/1:37:37:255,111,0	0/1:44:15:203,0,255	.	0/1:37:18:255,0,255	1/1:44:44:255,132,0	G	A	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Cervical cancer, decreased risk, association with(CM096315) || Breast cancer(CD982488) || Breast and/or ovarian cancer(CX119479)	CCG-CTG|Pro871Leu|c.2612C>T|p.P871L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19482343&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15235020&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract) || GTCATTT^870GCTccGTTTTCAAAT|c.2611_2612delCC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10660329&dopt=Abstract) || TCATTT^870GCTCcGTTTTCAAAT Ins: tt|c.2612delCinsTT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21702907&dopt=Abstract)	19482343|15235020|24728327|10660329|21702907|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	41245237	rs16940	A	G	222.57	PASS	BRCA1	breast cancer 1, early onset	exonic	NM_007294,NM_007297,NM_007300	.	synonymous SNV	BRCA1:NM_007297:exon9:c.T2170C:p.L724L,BRCA1:NM_007294:exon10:c.T2311C:p.L771L,BRCA1:NM_007300:exon10:c.T2311C:p.L771L	ENST00000591534.1,ENST00000352993.3,ENST00000591849.1,ENST00000586385.1,ENST00000493795.1,ENST00000351666.3,ENST00000357654.3,ENST00000468300.1,ENST00000491747.2,ENST00000309486.4,ENST00000354071.3,ENST00000346315.3,ENST00000471181.2	.	17q21.31	.	.	.	.	.	rs16940	CLINSIG=Benign|Benign|Benign|Benign;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNACC=RCV000111822.4|RCV000114985.2|RCV000128982.2|RCV000152867.3;CLNDSDB=MedGen:OMIM|MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=C2676676:604370|C0346153:114480:254843006|C0027672:699346009|CN169374	.	0.405316	0.371	0.335264	0.2776	0.3420	0.3785	0.316233047473	0.361779100962	.	.	.	.	.	.	.	.	-0.828	-0.451	.	.	AC=29;AN=42;BQB=0.554831;DP4=198,128,387,252;DP=1280;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.867735;SF=0,1,2,3,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,23,24;SGB=-0.693021;VDB=0.0809849	GT:DP:DV:PL	0/1:49:27:255,0,255	0/1:42:25:255,0,255	0/1:42:20:255,0,255	0/1:43:24:255,0,255	.	0/1:58:24:255,0,255	0/1:36:13:255,0,255	.	1/1:47:47:255,141,0	1/1:49:49:255,148,0	1/1:52:52:255,157,0	0/1:43:22:255,0,255	1/1:29:29:255,87,0	.	0/1:34:9:220,0,255	0/1:49:25:255,0,255	1/1:47:47:255,141,0	0/1:34:16:255,0,255	0/1:67:28:255,0,255	1/1:36:36:255,108,0	1/1:51:51:255,154,0	0/1:62:24:255,0,255	.	0/1:47:23:255,0,255	1/1:48:48:255,144,0	A	G	8	13	{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer, susceptibility to, 4}, 614320 (3)	.	Breast and/or ovarian cancer(CI063645) || Breast cancer(CI004175)	CAGTATT^770TCAagagagtagcagtatttcaTTGGTACCTG|c.2292_2310dup19(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16758124&dopt=Abstract) || CAGTATT^770TCAcTTGGTACCTG|c.2310_2311insC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10682662&dopt=Abstract)	16758124|10682662|25472942|24776801|23269703|22753008|22034435|21946536|21901007|21666725|20631078|20418484|20351172|20016594|19357644|19261749|18940477|18851829|18762988|18443292|18375767|18285836|18066063|17924331|17525342|17525341|17525340|17138902|17081976|16941470|16616110|16551709|16452482|16014699|15967981|15829967|15448696|15385441|15123655|15026808|14976165|14636569|14576433|14569130|12955716|12915453|12832489|12827452|12805518|12700174|12698193|12668603|12531920|12427738|12419249|12393792|12354784|12220453|12195423|12093742|12014998|11933198|11880951|11836499|11781691|11751867|11739404|11431698|11385711|11353843|11239454|11207349|11170903|11157798|11137998|11090615|11039575|10945492|10943845|10932184|10910365|10827109|10807385|10788334|10783165|10724175|10720440|10635334|10580847|10550055|10549283|10528853|10500182|10441573|10426999|10417303|10417300|10398279|10373534|10367887|10334989|10220405|10198641|10196379|9927062|9915971|9774970|9764635|9703501|9662397|9625172|9616287|9585617|9536083|9450187|9354803|9346961|9342365|9207798|9171821|9171368|9159119|9150173|9145676|9122215|9111062|9063749|8988162|8968716|8944024|8944023|8942979|8938427|8841191|8833256|8807330|8764100|8755943|8755940|8700509|8674108|8644752|8644703|8644702|8600523|8589722|8589721|8589705|8575748|8571953|8566965|8563759|8554067|8533757|8531968|8531967|8460636|8420680|8401501|8344961|8232556|8116622|8116621|8075631|7997258|7951316|7939630|7894493|7894492|7894491|7795653|7795652|7663517|7629886|7611277|7573057|7568035|7550349|7545954|7493024|7481765|1352270	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;FATTY_ACID_BIOSYNTHETIC_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;CELLULAR_LIPID_METABOLIC_PROCESS;DOUBLE_STRAND_BREAK_REPAIR;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;DNA_RECOMBINATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;UBIQUITIN_CYCLE;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELL_PROLIFERATION;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	ORGANELLE_PART;NUCLEAR_PART;UBIQUITIN_LIGASE_COMPLEX;NUCLEUS;NUCLEAR_UBIQUITIN_LIGASE_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CATION_BINDING;ZINC_ION_BINDING;ION_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_FANCONI_PATHWAY;PID_E2F_PATHWAY;PID_AR_PATHWAY;PID_ATM_PATHWAY;PID_ATF2_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_AURORA_A_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_BARD1PATHWAY;PID_HNF3APATHWAY	BIOCARTA_ATM_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS	PS1,PS3,BA1
L	17	42427630	rs25646	T	C	222.5	PASS	GRN	granulin	exonic	NM_002087	.	synonymous SNV	GRN:NM_002087:exon5:c.T384C:p.D128D	ENST00000053867.3,ENST00000589265.1	.	17q21.31	.	.	.	.	.	rs25646	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000084440.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.26412	0.2718	0.0854633	0.0215	0.0500	0.2522	0.18147007657	0.216346429087	0.044,D	.	.	1,P	.	.	.	8.5901	-2.030	-3.309	.	.	AC=13;AN=24;BQB=0.923166;DP4=348,123,387,159;DP=1410;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.864415;SF=1,2,6,9,10,12,13,16,17,18,20,23;SGB=-0.693143;VDB=0.48262	GT:DP:DV:PL	.	0/1:78:38:255,0,255	1/1:71:71:255,214,0	.	.	.	0/1:97:58:255,0,255	.	.	0/1:54:27:255,0,255	0/1:68:33:255,0,255	.	0/1:71:28:255,0,255	0/1:114:47:255,0,255	.	.	0/1:99:52:255,0,255	0/1:62:35:255,0,255	0/1:79:37:255,0,255	.	0/1:87:46:255,0,255	.	.	0/1:137:74:255,0,255	.	T	C	1	11	Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3); Aphasia, primary progressive, 607485 (3); Ceroid lipofuscinosis, neuronal, 11, 614706 (3)	.	Frontotemporal dementia(CD075437)	AGTGC^127CCTGAtagtCAGTTCGAAT|c.384_387delTAGT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17436289&dopt=Abstract)	17436289|25626394|22608501|21497117|21482928|21393509|21092856|20522652|20142525|20142524|19858458|18855025|18723524|18703462|18543312|18413474|18392865|18183624|18157829|17984093|17923627|17826340|17620546|17522386|17436289|17210807|16983685|16983677|16862116|16862115|16495329|16401619|15117809|12914763|12794388|12526812|12524533|12476321|11017147|10728698|10477733|10397269|9633693|9259373|9152110|8471244|6497355|1618805|1542665|1417868	.	.	RECEPTOR_BINDING;GROWTH_FACTOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	17	42453065	rs5911	A	C	223.29	PASS	ITGA2B	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	exonic	NM_000419	.	missense SNV	ITGA2B:NM_000419:exon26:c.T2621G:p.I874S	ENST00000262407.5,ENST00000353281.4	.	17q21.31	.	.	.	.	.	rs5911	CLINSIG=other;CLNDBN=Bak_platelet-specific_antigen;CLNACC=RCV000003025.2;CLNDSDB=.;CLNDSDBID=.	.	0.463455	0.4563	0.400359	0.3796	0.4359	0.4753	0.340734754977	0.3954325	0.211,T	0.0,B	0.001,B	0.999998,P	0.081164,U	-1.15,N	1.14,T	6.9702	1.033	1.255	2.060417,16.60	3.42	AC=17;AN=28;BQB=0.958032;DP4=302,145,490,205;DP=1466;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.420949;SF=1,2,6,7,12,15,16,17,18,19,20,21,23,24;SGB=-0.693141;VDB=0.569118	GT:DP:DV:PL	.	0/1:84:37:255,0,255	1/1:91:91:255,255,0	.	.	.	0/1:61:34:255,0,255	0/1:83:40:255,0,255	.	.	.	.	0/1:87:50:255,0,255	.	.	0/1:64:33:255,0,255	0/1:65:32:255,0,255	0/1:63:22:255,0,255	0/1:79:35:255,0,255	0/1:79:34:255,0,255	0/1:88:31:255,0,255	0/1:111:69:255,0,255	.	1/1:91:91:255,255,0	1/1:96:96:255,255,0	A	C	3	11	Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)	.	Reduced post-stroke mortality, association with(CM994214)	ATC-AGC|Ile874Ser|c.2621T>G|p.I874S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10582985&dopt=Abstract)	10582985|22102273|21487445|21454453|20075254|20020534|15378069|12730600|11875495|10477733|9834222|9734640|9473221|8704171|8282784|7706461|7686694|7620188|7508443|7197082|3479442|3198118|3189308|3186752|3179450|3006053|2845986|2454952|2450560|2439501|2420006|2014236|1926040|1702098|1638023|1371279|1317725	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;IDENTICAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GALACTOSYLTRANSFERASE_ACTIVITY	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	PID_INTEGRIN_CS_PATHWAY;PID_PTP1BPATHWAY;PID_INTEGRIN3_PATHWAY;PID_ARF6_PATHWAY;PID_EPHRINBREVPATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_SIGNAL_TRANSDUCTION_BY_L1;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	17	59763347	rs4986764	A	G	225.32	PASS	BRIP1	BRCA1 interacting protein C-terminal helicase 1	exonic	NM_032043	.	missense SNV	BRIP1:NM_032043:exon19:c.T2755C:p.S919P	ENST00000259008.2,ENST00000577598.1	.	17q23.2	.	.	.	.	.	rs4986764	CLINSIG=not provided|Benign;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000120400.1|RCV000132148.2;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009	.	0.747508	0.755	0.627796	0.6134	0.5972	0.7235	0.579632569678	0.662259274038	0.154,T	0.0,B	0.0,B	1,P	0.053329,N	.	-0.86,T	5.6501	0.011	0.136	.	.	AC=41;AN=50;BQB=0.93581;DP4=107,62,462,297;DP=1202;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.433407;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693127;VDB=0.118654	GT:DP:DV:PL	1/1:33:33:255,99,0	0/1:33:19:255,0,255	0/1:27:11:242,0,255	1/1:39:39:255,117,0	1/1:43:43:255,129,0	0/1:50:27:255,0,255	1/1:39:39:255,114,0	0/1:38:15:255,0,255	1/1:34:34:255,102,0	1/1:34:34:255,102,0	1/1:39:39:255,117,0	1/1:35:35:255,105,0	0/1:43:21:255,0,255	1/1:40:40:255,120,0	1/1:26:26:255,78,0	0/1:40:19:255,0,255	1/1:51:51:255,154,0	1/1:35:35:255,105,0	0/1:41:18:255,0,255	1/1:38:38:255,114,0	1/1:37:37:255,111,0	1/1:43:43:255,129,0	0/1:20:10:255,0,255	0/1:33:16:255,0,255	1/1:37:37:255,111,0	A	G	16	9	Breast cancer, early-onset, 114480 (3); Fanconi anemia, complementation group J, 609054 (3)	.	Breast cancer, association with(CM046104)	CCA-TCA|Pro919Ser|c.2755C>T|p.P919S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15113441&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24728327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23473757&dopt=Abstract)	15113441|24728327|23473757|20639400|17596542|17033622|16153896|16116424|16116423|16116421|14983014|14576433|12101401|12101400|11301010|9126728	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	CYTOPLASM	.	.	PID_FANCONI_PATHWAY	.	REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR	PS1,PS3,BA1
L	17	63554591	rs2240308	G	A	222.6	PASS	AXIN2	axin 2	exonic	NM_004655	.	missense SNV	AXIN2:NM_004655:exon2:c.C148T:p.P50S	ENST00000577662.1,ENST00000307078.5,ENST00000375702.5	.	17q24.1	.	.	Score=723;Name=V$SEF1_C	.	.	rs2240308	.	.	0.320598	0.3234	0.33766	0.3948	0.4737	0.3220	0.266462232772	0.288461581731	0.356,T	0.0,B	0.0,B	0.000806723,P	0.208652,N	.	-0.04,T	7.627	0.980	0.924	.	2.75	AC=11;AN=20;BQB=0.889755;DP4=339,220,375,261;DP=1662;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0182072;SF=2,5,6,11,12,17,19,20,21,23;SGB=-0.693147;VDB=0.0622295	GT:DP:DV:PL	.	.	0/1:103:47:255,0,255	.	.	0/1:206:106:255,0,255	1/1:79:79:255,238,0	.	.	.	.	0/1:83:43:255,0,255	0/1:78:35:255,0,255	.	.	.	.	0/1:64:26:255,0,255	.	0/1:111:66:255,0,255	0/1:99:51:255,0,255	0/1:184:90:255,0,255	.	0/1:188:93:255,0,255	.	G	A	1	9	Oligodontia-colorectal cancer syndrome, 608615 (3); Colorectal cancer, somatic, 114500 (3)	.	Lung cancer, association with(CM066739)	TCT-CCT|Ser50Pro|c.148T>C|p.S50P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16820935&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19065536&dopt=Abstract)	16820935|19065536|24311688|21416598|18790474|15042511|11474173|11017067|10049590	SIGNAL_TRANSDUCTION	NUCLEUS	.	KEGG_WNT_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BETACATENIN_DEG_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY	.	.	PS1,PS3,BA1
L	17	68172326	rs173135	C	T	222	PASS	KCNJ2	potassium channel, inwardly rectifying subfamily J, member 2	exonic	NM_000891	.	synonymous SNV	KCNJ2:NM_000891:exon2:c.C1146T:p.L382L	ENST00000535240.1,ENST00000243457.3	.	17q24.3	.	.	.	.	.	rs173135	CLINSIG=Benign;CLNDBN=Cardiac_arrhythmia;CLNACC=RCV000126419.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN029864:115000	.	0.137874	0.131	0.153954	0.1226	0.1337	0.1060	0.109494768147	0.120192473558	.	.	.	.	.	.	.	.	0.411	1.273	.	2.95	AC=6;AN=12;BQB=0.929268;DP4=106,17,83,19;DP=301;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997663;SF=3,11,13,14,19,20;SGB=-0.690438;VDB=0.318289	GT:DP:DV:PL	.	.	.	0/1:40:17:255,0,255	.	.	.	.	.	.	.	0/1:38:21:255,0,255	.	0/1:34:17:255,0,255	0/1:32:15:255,0,255	.	.	.	.	0/1:44:16:255,0,255	0/1:37:16:255,0,255	.	.	.	.	C	T	0	6	Andersen syndrome, 170390 (3); Short QT syndrome 3, 609622 (3); Atrial fibrillation, familial, 9, 613980 (3)	.	3-Hydroxybuyrate levels, association with(CM128893)	CTC-CTT|Leu382Leu|c.1146C>T|p.L382L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25569235&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22739561&dopt=Abstract)	25569235|22739561|19416905|18216262|17324964|17211524|16571646|16217063|15922306|15761194|12796536|12226654|12163457|12148092|12086641|12032359|11861044|11841151|11677598|11371347|11240146|9525859|7696590|7680768	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	17	76130575	rs7208422	A	T	223	PASS	TMC8	transmembrane channel-like 8	exonic	NM_152468	.	missense SNV	TMC8:NM_152468:exon8:c.A917T:p.N306I	ENST00000318430.5,ENST00000589691.1	.	17q25.3	.	.	.	.	.	rs7208422	.	.	0.415282	0.4236	0.552316	0.5559	0.5148	0.4293	0.341500535988	0.365384439904	1.0,T	0.0,B	0.0,B	0.999968,P	0.000458,N	-2.635,N	0.26,T	9.0321	0.657	1.351	.	4.71	AC=21;AN=36;BQB=0.429813;DP4=620,150,763,225;DP=2557;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.269937;SF=0,1,3,4,5,6,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0373527	GT:DP:DV:PL	1/1:82:82:255,247,0	0/1:90:46:255,0,255	.	1/1:74:74:255,223,0	0/1:91:42:255,0,255	0/1:127:60:255,0,255	0/1:89:50:255,0,255	.	.	.	.	.	0/1:80:39:255,0,255	1/1:128:127:255,255,0	0/1:109:51:255,0,255	0/1:75:39:255,0,255	0/1:95:47:255,0,255	.	0/1:72:31:255,0,255	0/1:98:45:255,0,255	0/1:104:43:255,0,255	0/1:138:62:255,0,255	0/1:37:18:255,0,255	0/1:136:68:255,0,255	0/1:133:64:255,0,255	A	T	3	15	Epidermodysplasia verruciformis, 226400 (3)	.	Epidermodysplasia verruciformis, susceptibility in HIV, association(CM091876)	AAC-ATC|Asn306Ile|c.917A>T|p.N306I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19005244&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21196704&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25495765&dopt=Abstract)	19005244|21196704|25495765|12426567|10844558|10084299	.	.	.	.	.	.	.	PS1,PS3,BA1
L	17	78087041	rs1800309	G	A	220.15	PASS	GAA	glucosidase, alpha; acid	exonic	NM_000152,NM_001079803,NM_001079804	.	missense SNV	GAA:NM_000152:exon15:c.G2065A:p.E689K,GAA:NM_001079804:exon15:c.G2065A:p.E689K,GAA:NM_001079803:exon16:c.G2065A:p.E689K	ENST00000390015.3,ENST00000302262.3	.	17q25.3	.	.	.	.	.	rs1800309	CLINSIG=Benign|other;CLNDBN=Acid_alpha-glucosidase\x2c_allele_4|not_specified;CLNACC=RCV000004245.1|RCV000078165.8;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374	.	0.225914	0.2401	0.0780751	0.0296	0.0880	0.3103	0.169219359877	0.20913478125	0.35,T	0.072,B	0.092,B	0.999626,P	0.014901,N	1.06,L	-3.23,D	6.5705	0.444	1.997	2.321433,18.31	.	AC=15;AN=26;BQB=0.571036;DP4=212,61,220,75;DP=846;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.768195;SF=0,2,3,4,8,9,10,11,13,17,18,20,24;SGB=-0.692914;VDB=0.620203	GT:DP:DV:PL	0/1:43:25:255,0,255	.	0/1:50:18:255,0,255	0/1:30:15:255,0,255	1/1:39:39:255,117,0	.	.	.	1/1:34:34:255,102,0	0/1:29:12:255,0,255	0/1:42:11:221,0,255	0/1:24:12:255,0,255	.	0/1:56:23:255,0,255	.	.	.	0/1:26:11:254,0,255	0/1:39:22:255,0,255	.	0/1:60:24:255,0,255	.	.	.	0/1:96:49:255,0,255	G	A	2	11	Glycogen storage disease II, 232300 (3)	.	Reduced activity(CM088196)	GAG-AAG|Glu689Lys|c.2065G>A|p.E689K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18301443&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21972175&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17805474&dopt=Abstract)	18301443|21972175|17805474|19959526|19474295|17616415|17210890|16917947|15668445|14695532|11855828|11590121|11511924|11038350|10737124|10723725|10338092|9738873|9668092|9554747|9529346|8990003|8912788|8834250|8786092|8558570|8401535|7945303|7881425|7881422|7717400|7668832|7051946|7006871|6770674|6756711|6391168|6381285|6370091|3882552|3865697|3540946|3049072|2658562|2403755|2268276|2203258|2203258|1898413|1652892|388444|373580|28188	BIOPOLYMER_CATABOLIC_PROCESS;GLUCAN_METABOLIC_PROCESS;MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;BIOPOLYMER_METABOLIC_PROCESS;ENERGY_RESERVE_METABOLIC_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;CELLULAR_CATABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;MAINTENANCE_OF_LOCALIZATION;ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;MACROMOLECULE_CATABOLIC_PROCESS;STRIATED_MUSCLE_CONTRACTION_GO_0006941;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CARBOHYDRATE_METABOLIC_PROCESS;POLYSACCHARIDE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;CATABOLIC_PROCESS;CARBOHYDRATE_CATABOLIC_PROCESS;ORGAN_DEVELOPMENT;SYSTEM_PROCESS;SENSORY_ORGAN_DEVELOPMENT;CELLULAR_POLYSACCHARIDE_METABOLIC_PROCESS	.	.	KEGG_GALACTOSE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_LYSOSOME	PID_HES_HEYPATHWAY	.	.	PS1,PS3,BA1
L	17	78178893	rs11652075	C	T	210.37	PASS	CARD14	caspase recruitment domain family, member 14	exonic	NM_024110	.	missense SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W	ENST00000572730.1,ENST00000576824.1,ENST00000573882.1,ENST00000573346.1,ENST00000344227.2	.	17q25.3	.	.	.	.	.	rs11652075	.	.	0.476744	0.499	0.353035	0.4093	0.4244	0.4728	0.369065960184	0.42427884375	0.004,D	0.17,B	0.912,P	0.99932,P	0.044886,N	1.04,L	3.41,T	4.3708	0.706	3.132	5.340918,25.8	.	AC=25;AN=38;BQB=0.301717;DP4=198,20,382,33;DP=861;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990396;SF=1,2,3,4,5,7,8,9,11,13,14,15,16,18,19,20,21,22,24;SGB=-0.686358;VDB=0.6178	GT:DP:DV:PL	.	0/1:31:14:174,0,255	0/1:24:14:253,0,197	1/1:34:34:255,102,0	0/1:33:15:255,0,250	0/1:46:25:255,0,255	.	0/1:32:15:253,0,245	0/1:30:12:227,0,255	1/1:25:25:255,75,0	.	0/1:24:10:222,0,255	.	0/1:51:23:255,0,255	1/1:43:43:255,129,0	0/1:29:13:193,0,255	1/1:32:32:255,96,0	.	0/1:29:13:223,0,255	0/1:31:16:255,0,240	0/1:35:18:251,0,255	1/1:40:40:255,120,0	0/1:22:11:242,0,255	.	1/1:42:42:255,126,0	C	T	6	13	Psoriasis 2, 602723 (3); Pityriasis rubra pilaris, 173200 (3)	.	Psoriasis susceptibility, association with(CM1211347)	CGG-TGG|Arg820Trp|c.2458C>T|p.R820W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23143594&dopt=Abstract)	23143594|23648549|22703878|22521419|22521418|18256691|15689454|11356195|11278692|8178173	POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PHOSPHORYLATION;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS	CYTOPLASM	PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	PS1,PS3,BA1
L	18	3457607	rs2229333	C	T	204.58	PASS	TGIF1	TGFB-induced factor homeobox 1	exonic	NM_001278682,NM_001278684,NM_001278686,NM_003244,NM_170695,NM_173207,NM_173208,NM_173209,NM_173210,NM_173211,NM_174886	.	missense SNV	TGIF1:NM_001278682:exon3:c.C497T:p.P166L,TGIF1:NM_003244:exon3:c.C488T:p.P163L,TGIF1:NM_170695:exon3:c.C875T:p.P292L,TGIF1:NM_173207:exon3:c.C530T:p.P177L,TGIF1:NM_173209:exon3:c.C428T:p.P143L,TGIF1:NM_173210:exon3:c.C428T:p.P143L,TGIF1:NM_173211:exon3:c.C428T:p.P143L,TGIF1:NM_001278684:exon4:c.C488T:p.P163L,TGIF1:NM_001278686:exon4:c.C428T:p.P143L,TGIF1:NM_173208:exon4:c.C488T:p.P163L,TGIF1:NM_174886:exon4:c.C428T:p.P143L	ENST00000472042.1,ENST00000330513.5,ENST00000345133.5,ENST00000407501.2,ENST00000401449.1,ENST00000343820.5,ENST00000551541.1,ENST00000548489.2,ENST00000400167.2,ENST00000405385.3	.	18p11.31	.	.	.	.	.	rs2229333	.	.	0.159468	0.1647	0.0776757	0.0442	0.0627	0.1566	0.159468	0.139422753606	0.001,D	0.91,D	0.999,D	1.38842e-10,P	0.000000,D	2.67,M	-0.17,T	13.868	1.225	7.300	4.439109,24.2	4.39	AC=14;AN=24;BQB=0.99778;DP4=113,42,134,50;DP=384;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934987;SF=0,4,5,6,7,12,18,20,21,22,23,24;SGB=-0.692562;VDB=0.535427	GT:DP:DV:PL	1/1:22:22:255,66,0	.	.	.	0/1:35:15:255,0,255	0/1:24:13:255,0,245	0/1:33:17:255,0,255	1/1:28:28:255,84,0	.	.	.	.	0/1:31:16:253,0,255	.	.	.	.	.	0/1:30:13:233,0,252	.	0/1:35:12:210,0,255	0/1:40:15:241,0,255	0/1:20:7:134,0,209	0/1:24:12:242,0,221	0/1:17:14:255,0,55	C	T	2	10	Holoprosencephaly-4, 142946 (3)	.	Myopia, high-grade, association with(CM1411535)	CCG-CTG|Pro163Leu|c.488C>T|p.P163L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24215395&dopt=Abstract)	24215395|23459932|18455519|17998248|16916642|15831469|12601022|12522553|10835638|10556296|10199400|8901052|8537382|7502239	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	.	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;DNA_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY	.	REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PS1,PS3,BA1
L	18	7008583	rs73938538	A	C	222	PASS	LAMA1	laminin, alpha 1	exonic	NM_005559	.	synonymous SNV	LAMA1:NM_005559:exon28:c.T4026G:p.V1342V	ENST00000389658.3	.	18p11.31	.	.	Score=869;Name=V$NF1_Q6	.	.	rs73938538	.	.	0.107973	0.1091	0.171725	0.1562	0.1249	0.1028	0.083460754977	0.0961535432692	.	.	.	.	.	.	.	.	-1.715	-0.330	.	.	AC=4;AN=8;BQB=0.417513;DP4=51,46,50,39;DP=263;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.560378;SF=2,5,19,20;SGB=-0.690438;VDB=0.538759	GT:DP:DV:PL	.	.	0/1:32:17:255,0,255	.	.	0/1:57:30:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:20:255,0,255	0/1:53:22:255,0,255	.	.	.	.	A	C	0	4	Poretti-Boltshauser syndrome, 615960 (3)	.	Alzheimer disease, in Amish, association with(CM151643)	GTT-GTG|Val1342Val|c.4026T>G|p.V1342V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25668194&dopt=Abstract)	25668194|25105227|20048158|15213105|10837144|7921537|3848400|2591971|2267633|2049067|1714537	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_GLYPICAN_1PATHWAY;PID_INTEGRIN4_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_SYNDECAN_2_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS	PS1,PS3,BA1
L	18	9117867	rs906807	T	C	158.51	PASS	NDUFV2	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	exonic	NM_021074	.	missense SNV	NDUFV2:NM_021074:exon2:c.T86C:p.V29A	ENST00000400033.1,ENST00000579126.1,ENST00000318388.6	.	18p11.22	.	.	.	.	.	rs906807	CLINSIG=Uncertain significance|other;CLNDBN=Parkinson_disease\x2c_mitochondrial|not_specified;CLNACC=RCV000009621.2|RCV000117718.3;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C1838867:556500|CN169374	.	0.710963	0.7063	0.778954	0.7995	0.8001	0.7098	0.56508406585	0.653845872596	1.0,T	0.0,B	0.0,B	0.999999,P	0.003096,N	-1.63,N	0.96,T	11.8551	1.497	1.537	.	4.67	AC=34;AN=46;BQB=0.607698;DP4=37,12,130,29;DP=294;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.01283;MQSB=1;RPB=0.810265;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.556411;VDB=0.981859	GT:DP:DV:PL	0/1:7:4:138,0,74	0/1:9:4:133,0,186	1/1:9:9:255,27,0	0/1:7:4:133,0,107	0/1:10:5:133,0,133	1/1:14:14:255,42,0	1/1:12:12:255,36,0	1/1:7:7:196,21,0	.	0/1:7:3:107,0,138	0/1:10:7:229,0,98	1/1:6:6:205,18,0	0/1:6:3:87,0,91	1/1:3:3:124,9,0	0/1:7:6:197,0,16	0/1:16:9:222,0,217	1/1:13:13:255,39,0	0/1:11:5:138,0,178	.	1/1:8:8:255,24,0	1/1:11:11:255,33,0	1/1:9:9:255,27,0	0/1:6:2:73,0,141	1/1:10:10:255,30,0	0/1:10:5:189,0,183	T	C	11	12	Mitochondrial complex I deficiency, 252010 (3)	.	Parkinson disease, susceptibility to, association(CM983407)	GCT-GTT|Ala29Val|c.86C>T|p.A29V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9570948&dopt=Abstract)	9570948|12754703|11220739|9570948|9344673|7607668|7488192	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	.	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	PS1,PS3,BA1
L	18	43319519	rs1058396	G	A	223.06	PASS	SLC14A1	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	exonic	NM_001128588,NM_001146036,NM_001146037,NM_001308278,NM_001308279,NM_015865	.	missense SNV	SLC14A1:NM_001308279:exon6:c.G442A:p.D148N,SLC14A1:NM_001146037:exon7:c.G1006A:p.D336N,SLC14A1:NM_001308278:exon7:c.G523A:p.D175N,SLC14A1:NM_015865:exon8:c.G838A:p.D280N,SLC14A1:NM_001128588:exon9:c.G1006A:p.D336N,SLC14A1:NM_001146036:exon9:c.G838A:p.D280N	ENST00000415427.3,ENST00000402943.2,ENST00000535474.1,ENST00000586213.1,ENST00000591541.1,ENST00000436407.3,ENST00000586142.1,ENST00000589700.1,ENST00000321925.4,ENST00000589510.1,ENST00000502059.2	.	18q12.3	.	.	.	.	.	rs1058396	CLINSIG=Benign;CLNDBN=KIDD_BLOOD_POLYMORPHISM_Jk(a)/Jk(b);CLNACC=RCV000019290.2;CLNDSDB=.;CLNDSDBID=.	.	0.526578	0.5258	0.410942	0.4110	0.4695	0.5368	0.414242024502	0.467547891827	0.518,T	0.008,B	0.002,B	0.999977,P	0.026306,N	0.72,N	0.74,T	13.0875	-1.283	0.701	.	.	AC=25;AN=34;BQB=0.859822;DP4=136,62,421,180;DP=1107;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.71678;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,16,20,22,24;SGB=-0.693147;VDB=0.144855	GT:DP:DV:PL	1/1:52:52:255,157,0	1/1:38:38:255,114,0	0/1:56:23:255,0,255	.	0/1:42:20:255,0,255	1/1:74:74:255,223,0	0/1:54:21:255,0,255	.	0/1:44:24:255,0,255	0/1:45:19:255,0,255	1/1:45:45:255,135,0	1/1:41:41:255,123,0	0/1:37:22:255,0,255	0/1:46:24:255,0,255	1/1:62:62:255,187,0	.	1/1:54:54:255,163,0	.	.	.	1/1:48:48:255,144,0	.	0/1:18:8:225,0,205	.	0/1:43:26:255,0,255	G	A	8	9	[Blood group, Kidd], 111000 (3)	.	Kidd blood group variant(CM973381)	AAC-GAC|Asn280Asp|c.838A>G|p.N280D(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9215669&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18841022&dopt=Abstract)	9215669|18841022|11807016|11792714|10942407|9582331|9215669|9119994|7989337|7797558	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_AMINE_COMPOUND_SLC_TRANSPORTERS	PS1,PS3,BA1
L	18	50432602	rs2229080	C	G	220.77	PASS	DCC	DCC netrin 1 receptor	exonic	NM_005215	.	missense SNV	DCC:NM_005215:exon3:c.C601G:p.R201G	ENST00000442544.2,ENST00000412726.1	.	18q21.2	.	.	.	.	.	rs2229080	.	.	0.513289	0.5387	0.477436	0.3594	0.4447	0.5527	0.415007689127	0.462740418269	0.095,T	0.483,P	0.798,P	0.686866,P	0.000098,D	0.405,N	1.11,T	17.8242	-0.304	-0.023	2.708306,20.9	.	AC=30;AN=44;BQB=0.989885;DP4=135,84,256,175;DP=906;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.857484;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,16,17,18,20,21,22,23,24;SGB=-0.69168;VDB=0.563487	GT:DP:DV:PL	0/1:36:19:255,0,255	0/1:28:8:192,0,255	1/1:33:33:255,99,0	0/1:23:10:248,0,255	1/1:31:31:255,93,0	1/1:32:32:255,96,0	0/1:19:10:255,0,239	0/1:28:12:255,0,255	0/1:33:18:255,0,255	1/1:22:22:255,66,0	0/1:31:16:255,0,255	.	0/1:24:16:255,0,191	0/1:25:12:255,0,255	0/1:30:15:255,0,255	.	1/1:27:27:255,81,0	1/1:20:20:255,60,0	1/1:22:22:255,66,0	.	0/1:29:16:255,0,255	0/1:60:25:255,0,255	0/1:17:10:252,0,187	1/1:33:33:255,99,0	0/1:47:24:255,0,255	C	G	8	14	Mirror movements 1, 157600 (3); Colorectal cancer, somatic, 114500 (3); Esophageal carcinoma, somatic 133239 (3)	.	Colorectal cancer, risk, association with(CM973390)	CGA-GGA|Arg201Gly|c.601C>G|p.R201G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9440618&dopt=Abstract)	9440618|24876346|22358843|22158121|21499247|21242494|20434207|20431009|19127048|18771734|17916735|15494734|15494733|15494732|15343335|12827203|12451134|11986622|11239160|11239147|10958786|9796814|9796814|9126737|9081374|8929264|8861904|8861903|8861902|8761300|8673134|8400144|8188295|8187090|8015568|7585933|4016686|3415702|2841597|2294591|1991322|1670965|1591722|1354644|1314700	CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	.	.	KEGG_AXON_GUIDANCE;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER	PID_NETRIN_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_AXON_GUIDANCE;REACTOME_ROLE_OF_DCC_IN_REGULATING_APOPTOSIS;REACTOME_ROLE_OF_SECOND_MESSENGERS_IN_NETRIN1_SIGNALING;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_DSCAM_INTERACTIONS;REACTOME_APOPTOSIS	PS1,PS3,BA1
L	19	2249477	rs10407022	G	T	224	PASS	AMH	anti-Mullerian hormone	exonic	NM_000479	.	missense SNV	AMH:NM_000479:exon1:c.G146T:p.S49I	ENST00000221496.4	.	19p13.3	.	.	.	.	.	rs10407022	.	.	0.574751	0.5863	0.675919	0.7395	0.7876	0.6450	0.454058124043	0.508413692308	0.041,D	0.367,B	0.838,P	1,P	0.382842,U	0.895,L	-1.76,D	10.9176	0.554	2.143	1.771014,14.82	2.69	AC=28;AN=42;BQB=0.856208;DP4=302,185,639,319;DP=1876;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997385;SF=0,1,2,3,4,6,7,8,9,10,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.693127;VDB=0.8966	GT:DP:DV:PL	0/1:61:33:255,0,255	1/1:68:68:255,205,0	1/1:82:82:255,247,0	0/1:52:28:255,0,255	1/1:52:52:255,157,0	.	1/1:69:69:255,208,0	0/1:75:32:255,0,255	0/1:62:34:255,0,255	0/1:60:32:255,0,255	0/1:68:41:255,0,255	.	.	0/1:109:54:255,0,255	0/1:84:41:255,0,255	0/1:53:28:255,0,255	0/1:61:33:255,0,255	0/1:50:27:255,0,255	1/1:58:58:255,175,0	1/1:70:70:255,211,0	0/1:78:44:255,0,255	0/1:110:54:255,0,255	1/1:37:37:255,111,0	0/1:86:41:255,0,255	.	G	T	7	14	Persistent Mullerian duct syndrome, type I, 261550 (3)	.	Follicle number, association with(CM081156)	ATC-AGC|Ile49Ser|c.146T>G|p.I49S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18230658&dopt=Abstract)	18230658|19359476|18334591|18230658|16260730|16159935|12574214|11760020|10571183|10022428|9154774|9154766|8895659|8872466|8162013|7493017|3754790|3028714|2562843|2426698|2023927|2004779|1809231|1685136|1483695	REPRODUCTIVE_PROCESS;CELL_CELL_SIGNALING;REPRODUCTION	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	RECEPTOR_BINDING;HORMONE_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_ALK2PATHWAY	.	.	PS1,PS3,BA1
L	19	3595923	rs1131882	G	A	213.81	PASS	TBXA2R	thromboxane A2 receptor	exonic	NM_001060,NM_201636	.	synonymous SNV	TBXA2R:NM_001060:exon3:c.C795T:p.I265I,TBXA2R:NM_201636:exon3:c.C795T:p.I265I	ENST00000411851.3,ENST00000375190.4,ENST00000589966.1	CpG: 32	19p13.3	.	.	.	.	.	rs1131882	.	.	0.594684	0.5883	0.234625	0.1208	0.2652	0.6319	0.594684	0.542067076923	.	.	.	.	.	.	.	.	-0.013	0.056	0.938737,10.31	.	AC=29;AN=42;BQB=0.906887;DP4=55,101,149,271;DP=771;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.76224;SF=0,2,3,4,5,6,8,9,10,11,12,13,14,15,16,17,19,20,22,23,24;SGB=-0.693097;VDB=0.00325476	GT:DP:DV:PL	1/1:30:30:255,90,0	.	0/1:33:13:255,0,255	0/1:21:7:188,0,255	1/1:33:33:255,99,0	0/1:40:17:255,0,255	0/1:24:15:254,0,172	.	1/1:26:26:255,78,0	0/1:17:8:230,0,240	0/1:37:19:255,0,255	0/1:12:10:255,0,33	1/1:20:20:255,60,0	1/1:41:41:255,123,0	1/1:31:31:255,93,0	1/1:32:32:255,96,0	0/1:23:17:255,0,144	0/1:25:12:252,0,255	.	0/1:32:21:255,0,248	1/1:29:29:255,87,0	.	0/1:14:7:135,0,205	0/1:30:17:255,0,255	0/1:26:15:255,0,255	G	A	8	13	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)	.	Elevated IgE level in atopic dermatitis patients, association(CM022851)	ATC-ATT|Ile265Ile|c.795C>T|p.I265I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11922633&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23517037&dopt=Abstract)	11922633|23517037|22517902|19828703|12778172|11964481|10830912|9835625|8613548|8428006|8288221|8227091|7929844|7910583|7759114|2955539|2528545|1825698	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_TXA2PATHWAY	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_EICOSANOID_LIGAND_BINDING_RECEPTORS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_PROSTANOID_LIGAND_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_THROMBOXANE_SIGNALLING_THROUGH_TP_RECEPTOR;REACTOME_GPCR_LIGAND_BINDING;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
L	19	5831672	rs61147939	G	C	223.53	PASS	FUT6	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	exonic	NM_000150,NM_001040701	.	missense SNV	FUT6:NM_001040701:exon2:c.C907G:p.R303G,FUT6:NM_000150:exon3:c.C907G:p.R303G	ENST00000318336.4,ENST00000592563.1,ENST00000524754.1,ENST00000527106.1,ENST00000286955.5	CpG: 47	19p13.3	.	.	.	Score=0.910767;Name=chr19:5843708	.	rs61147939	.	.	0.443522	0.4484	0.188698	.	0.1420	0.4661	0.443522	0.394230954327	0.084,T	0.292,B	0.085,B	1,P	0.469400,N	1.7,L	1.77,T	8.6736	1.628	0.461	2.361683,18.57	3.03	AC=24;AN=38;BQB=0.923484;DP4=319,233,396,350;DP=1515;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.00543644;MQSB=0.0842156;RPB=0.178026;SF=0,3,4,6,7,8,9,10,11,12,13,15,16,17,18,20,22,23,24;SGB=-0.693147;VDB=0.124685	GT:DP:DV:PL	1/1:71:67:255,130,0	.	.	0/1:69:28:255,0,255	1/1:75:70:255,130,0	.	0/1:64:19:255,0,255	0/1:78:39:255,0,255	0/1:65:29:255,0,255	1/1:45:44:255,110,0	0/1:58:25:255,0,255	0/1:45:23:255,0,255	0/1:93:47:255,0,255	0/1:105:45:255,0,255	.	1/1:69:63:255,83,0	0/1:60:36:255,0,255	0/1:62:33:255,0,255	0/1:63:24:255,0,255	.	0/1:63:25:255,0,255	.	1/1:36:36:255,108,0	0/1:92:43:255,0,255	0/1:85:50:255,0,255	G	C	5	14	Fucosyltransferase 6 deficiency, 613852 (3)	.	Fucosyltransferase deficiency(CM002971)	CGG-GGG|Arg303Gly|c.907C>G|p.R303G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11102976&dopt=Abstract)	11102976|10900002|10738539|8662894|8175676|7782074|7650030|1520296|1339443	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;FUCOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	PS1,PS3,BA1
L	19	5832209	rs778805	G	A	224.84	PASS	FUT6	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	exonic	NM_000150,NM_001040701	.	missense SNV	FUT6:NM_001040701:exon2:c.C370T:p.P124S,FUT6:NM_000150:exon3:c.C370T:p.P124S	ENST00000318336.4,ENST00000592563.1,ENST00000524754.1,ENST00000527106.1,ENST00000286955.5	CpG: 47	19p13.3	.	.	.	Score=0.910767;Name=chr19:5843708	.	rs778805	.	.	0.621262	0.6121	0.495208	0.4199	0.4109	0.5948	0.464777785605	0.550480329327	0.038,D	0.102,B	0.035,B	1,P	0.005421,N	1.985,M	1.86,T	12.3946	0.145	1.907	.	2.11	AC=28;AN=38;BQB=1;DP4=382,174,994,398;DP=2704;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,3,4,6,7,8,9,10,11,12,13,15,16,17,18,20,22,23,24;SGB=-0.693147;VDB=0.370434	GT:DP:DV:PL	1/1:103:102:255,255,0	.	.	0/1:112:58:255,0,255	1/1:100:100:255,255,0	.	0/1:103:47:255,0,255	0/1:109:56:255,0,255	1/1:109:109:255,255,0	1/1:76:76:255,229,0	1/1:95:95:255,255,0	0/1:78:33:255,0,255	0/1:117:60:255,0,255	0/1:171:72:255,0,255	.	1/1:104:104:255,255,0	0/1:78:38:255,0,255	0/1:80:41:255,0,255	0/1:109:55:255,0,255	.	1/1:111:111:255,255,0	.	1/1:50:50:255,151,0	0/1:123:65:255,0,255	1/1:120:120:255,255,0	G	A	9	10	Fucosyltransferase 6 deficiency, 613852 (3)	.	Fucosyltransferase deficiency(CM940794)	CCG-TCG|Pro124Ser|c.370C>T|p.P124S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8175676&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	8175676|20981092|10900002|10738539|8662894|8175676|7782074|7650030|1520296|1339443	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;FUCOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	PS1,PS3,BA1
L	19	5843784	rs3894326	A	T	222	PASS	FUT3	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	exonic	NM_000149,NM_001097639,NM_001097640,NM_001097641	.	missense SNV	FUT3:NM_001097641:exon2:c.T1067A:p.I356K,FUT3:NM_000149:exon3:c.T1067A:p.I356K,FUT3:NM_001097639:exon3:c.T1067A:p.I356K,FUT3:NM_001097640:exon3:c.T1067A:p.I356K	ENST00000303225.6,ENST00000458379.2,ENST00000589918.1,ENST00000589620.1	.	19p13.3	.	.	.	Score=0.910767;Name=chr19:5831442	.	rs3894326	.	.	0.159468	0.1478	0.096246	0.0592	0.0865	0.1293	0.104134570291	0.135816978365	0.013,D	0.938,D	0.981,D	0.992534,D	0.940582,U	3.455,M	1.74,T	8.2938	0.959	1.993	4.756553,24.7	2.2	AC=4;AN=8;BQB=0.963456;DP4=95,46,90,35;DP=364;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.740818;MQSB=0.773612;RPB=0.246967;SF=8,10,20,24;SGB=-0.692562;VDB=0.332573	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:54:22:255,0,255	.	0/1:62:37:255,0,255	.	.	.	.	.	.	.	.	.	0/1:49:28:255,0,255	.	.	.	0/1:101:38:255,0,255	A	T	0	4	[Blood group, Lewis] (3)	.	Lewis antigen, absence(CM940793)	ATA-AAA|Ile356Lys|c.1067T>A|p.I356K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8063716&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10089211&dopt=Abstract)	8063716|10089211|9703429|8943285|8914633|8219240|8018146|7961897|7878011|7656588|6745937|6177980|5796361|4827488|2922027	CARBOHYDRATE_METABOLIC_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	PS1,PS3,BA1
L	19	5844537	rs778986	A	G	227.76	PASS	FUT3	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	exonic	NM_000149,NM_001097639,NM_001097640,NM_001097641	.	missense SNV	FUT3:NM_001097641:exon2:c.T314C:p.M105T,FUT3:NM_000149:exon3:c.T314C:p.M105T,FUT3:NM_001097639:exon3:c.T314C:p.M105T,FUT3:NM_001097640:exon3:c.T314C:p.M105T	ENST00000303225.6,ENST00000458379.2,ENST00000589918.1,ENST00000589620.1	.	19p13.3	.	.	.	Score=0.910767;Name=chr19:5831442	.	rs778986	.	.	0.961794	0.9692	0.888379	0.8388	0.8368	0.9735	0.767994012251	0.868990382212	0.038,D	0.0,B	0.0,B	1,P	0.000807,D	.	1.84,T	4.2355	-0.638	-0.146	.	.	AC=49;AN=50;BQB=0.997514;DP4=46,31,1678,1133;DP=3985;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.739945;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.269657	GT:DP:DV:PL	1/1:121:121:255,255,0	1/1:138:138:255,255,0	1/1:137:137:255,255,0	1/1:126:126:255,255,0	1/1:123:123:255,255,0	1/1:107:107:255,255,0	1/1:102:102:255,255,0	1/1:143:143:255,255,0	1/1:104:104:255,255,0	1/1:93:93:255,255,0	1/1:112:112:255,255,0	1/1:108:108:255,255,0	1/1:127:127:255,255,0	1/1:183:183:255,255,0	1/1:127:127:255,255,0	1/1:102:102:255,255,0	1/1:113:113:255,255,0	1/1:84:84:255,253,0	1/1:115:115:255,255,0	1/1:117:117:255,255,0	0/1:146:69:255,0,255	1/1:129:129:255,255,0	1/1:34:34:255,102,0	1/1:107:107:255,255,0	1/1:90:90:255,255,0	A	G	24	1	[Blood group, Lewis] (3)	.	Lewis antigen, absence(CM930259)	ACG-ATG|Thr105Met|c.314C>T|p.T105M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8240322&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	8240322|20981092|9703429|8943285|8914633|8219240|8018146|7961897|7878011|7656588|6745937|6177980|5796361|4827488|2922027	CARBOHYDRATE_METABOLIC_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	PS1,PS3,BA1
L	19	5844649	rs812936	G	A	227.76	PASS	FUT3	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	exonic	NM_000149,NM_001097639,NM_001097640,NM_001097641	.	missense SNV	FUT3:NM_001097641:exon2:c.C202T:p.R68W,FUT3:NM_000149:exon3:c.C202T:p.R68W,FUT3:NM_001097639:exon3:c.C202T:p.R68W,FUT3:NM_001097640:exon3:c.C202T:p.R68W	ENST00000303225.6,ENST00000458379.2,ENST00000589918.1,ENST00000589620.1	.	19p13.3	.	.	.	Score=0.910767;Name=chr19:5831442	.	rs812936	.	.	0.961794	0.9692	0.881589	0.8296	0.8277	0.9733	0.76722802144	0.868990382212	1.0,T	0.0,B	0.0,B	0.99996,P	0.000032,N	.	2.55,T	5.9634	0.116	2.964	.	2.33	AC=49;AN=50;BQB=0.707404;DP4=18,6,1219,456;DP=1838;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.487021;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.804232	GT:DP:DV:PL	1/1:65:65:255,196,0	1/1:70:70:255,211,0	1/1:74:74:255,223,0	1/1:78:78:255,235,0	1/1:78:78:255,235,0	1/1:79:79:255,238,0	1/1:83:83:255,250,0	1/1:80:80:255,241,0	1/1:75:75:255,226,0	1/1:48:48:255,144,0	1/1:75:75:255,226,0	1/1:49:49:255,144,0	1/1:63:63:255,190,0	1/1:77:77:255,232,0	1/1:80:80:255,241,0	1/1:60:60:255,181,0	1/1:65:65:255,196,0	1/1:51:51:255,154,0	1/1:55:55:255,166,0	1/1:87:87:255,255,0	0/1:64:40:255,0,255	1/1:65:65:255,196,0	1/1:30:30:255,90,0	1/1:77:77:255,232,0	1/1:71:71:255,214,0	G	A	24	1	[Blood group, Lewis] (3)	.	Lewis antigen, absence(CM970545)	TGG-CGG|Trp68Arg|c.202T>C|p.W68R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9268337&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract)	9268337|20981092|9703429|8943285|8914633|8219240|8018146|7961897|7878011|7656588|6745937|6177980|5796361|4827488|2922027	CARBOHYDRATE_METABOLIC_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	PS1,PS3,BA1
L	19	7125297	rs1799817	G	A	171.88	PASS	INSR	insulin receptor	exonic	NM_000208,NM_001079817	.	synonymous SNV	INSR:NM_001079817:exon16:c.C3219T:p.H1073H,INSR:NM_000208:exon17:c.C3255T:p.H1085H	ENST00000341500.5,ENST00000302850.5	.	19p13.2	.	.	Score=893;Name=V$SREBP1_01	.	.	rs1799817	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000175129.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.448505	0.4464	0.292532	0.1908	0.2273	0.4232	0.448505	0.402644326923	.	.	.	.	.	.	.	.	-1.441	-0.801	.	.	AC=21;AN=34;BQB=0.936864;DP4=202,6,280,13;DP=600;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.973935;SF=0,1,2,4,5,6,8,9,12,13,16,17,20,21,22,23,24;SGB=-0.676189;VDB=0.255089	GT:DP:DV:PL	0/1:22:11:149,0,218	0/1:18:9:188,0,164	0/1:25:11:170,0,231	.	1/1:28:28:255,84,0	0/1:50:25:213,0,255	1/1:22:22:254,66,0	.	0/1:28:14:180,0,178	0/1:20:13:181,0,137	.	.	0/1:23:11:171,0,154	1/1:33:33:255,99,0	.	.	1/1:28:28:255,84,0	0/1:17:7:142,0,189	.	.	0/1:41:21:248,0,231	0/1:51:25:255,0,206	0/1:17:6:125,0,240	0/1:34:9:171,0,255	0/1:44:20:249,0,255	G	A	4	13	Leprechaunism, 246200 (3); Rabson-Mendenhall syndrome, 262190 (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)	.	Polycystic ovary syndrome, in lean women, association with(CM092295)	CAC-CAT|His1085His|c.3255C>T|p.H1085H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19211708&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22775283&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19926323&dopt=Abstract)	19211708|22775283|19926323|23354051|23302862|18587407|16957736|16894147|16642022|15924147|15592467|15254588|15161766|15114529|14722613|14628051|13302174|12970295|12813019|12702880|12543978|12110165|12023989|11877471|11735220|11726610|11602628|11463381|11163213|11156965|11000114|10949030|10084586|10025399|9844629|9524259|9449692|8900242|8528241|8432525|8432414|8419945|8326490|8288049|8202531|8188715|8101305|8096518|7815442|7814014|7693131|7136687|7046438|7042734|6849137|6607116|6392291|6339538|6141638|4413914|3892304|3873110|3721065|3547409|3510919|3510137|3510133|3384956|3283938|3280314|3279949|3090548|3049671|3014538|3009519|2983222|2911561|2884728|2877934|2859121|2840573|2834824|2662406|2573522|2544998|2544997|2479553|2460770|2365819|2300553|2203761|2187866|2168397|2121734|2002058|1986371|1971035|1963473|1955495|1890161|1881419|1730625|1657953|1644241|1607076|1607067|1602013|1315125|1314826|457841|176581	PROTEIN_OLIGOMERIZATION;PROTEIN_AUTOPROCESSING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INSULIN_RECEPTOR_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_PROCESSING;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_DOMAIN_SPECIFIC_BINDING;TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;KINASE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;SH2_DOMAIN_BINDING;HORMONE_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PEPTIDE_BINDING;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;ENZYME_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	PID_INSULIN_PATHWAY;PID_PTP1BPATHWAY;PID_TCPTP_PATHWAY;PID_INSULIN_GLUCOSE_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_GH_PATHWAY;BIOCARTA_INSULIN_PATHWAY	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_SIGNAL_ATTENUATION;REACTOME_PI3K_CASCADE;REACTOME_SHC_RELATED_EVENTS	PS1,PS3,BA1
L	19	7166376	rs2059806	C	T	221.25	PASS	INSR	insulin receptor	exonic	NM_000208,NM_001079817	.	synonymous SNV	INSR:NM_000208:exon8:c.G1650A:p.A550A,INSR:NM_001079817:exon8:c.G1650A:p.A550A	ENST00000341500.5,ENST00000302850.5	.	19p13.2	.	.	Score=812;Name=V$PAX4_01	.	.	rs2059806	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000180111.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.27907	0.2798	0.244808	0.2255	0.2549	0.2493	0.196783935681	0.237980997596	.	.	.	.	.	.	.	.	-5.294	-5.346	.	.	AC=9;AN=16;BQB=0.758709;DP4=69,75,83,76;DP=389;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.711124;SF=3,5,8,9,10,20,21,24;SGB=-0.676189;VDB=0.212183	GT:DP:DV:PL	.	.	.	0/1:19:11:255,0,219	.	0/1:43:13:255,0,255	.	.	0/1:37:19:255,0,255	0/1:31:11:244,0,255	0/1:40:23:255,0,255	.	.	.	.	.	.	.	.	.	0/1:48:20:255,0,255	1/1:39:39:255,117,0	.	.	0/1:46:23:255,0,255	C	T	1	7	Leprechaunism, 246200 (3); Rabson-Mendenhall syndrome, 262190 (3); Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)	.	Reduced diastolic blood pressure, association with(CM004252)	GCG-GCA|Ala550Ala|c.1650G>A|p.A550A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10933564&dopt=Abstract)	10933564|23354051|23302862|18587407|16957736|16894147|16642022|15924147|15592467|15254588|15161766|15114529|14722613|14628051|13302174|12970295|12813019|12702880|12543978|12110165|12023989|11877471|11735220|11726610|11602628|11463381|11163213|11156965|11000114|10949030|10084586|10025399|9844629|9524259|9449692|8900242|8528241|8432525|8432414|8419945|8326490|8288049|8202531|8188715|8101305|8096518|7815442|7814014|7693131|7136687|7046438|7042734|6849137|6607116|6392291|6339538|6141638|4413914|3892304|3873110|3721065|3547409|3510919|3510137|3510133|3384956|3283938|3280314|3279949|3090548|3049671|3014538|3009519|2983222|2911561|2884728|2877934|2859121|2840573|2834824|2662406|2573522|2544998|2544997|2479553|2460770|2365819|2300553|2203761|2187866|2168397|2121734|2002058|1986371|1971035|1963473|1955495|1890161|1881419|1730625|1657953|1644241|1607076|1607067|1602013|1315125|1314826|457841|176581	PROTEIN_OLIGOMERIZATION;PROTEIN_AUTOPROCESSING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INSULIN_RECEPTOR_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_PROCESSING;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_DOMAIN_SPECIFIC_BINDING;TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;KINASE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;SH2_DOMAIN_BINDING;HORMONE_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PEPTIDE_BINDING;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;ENZYME_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	PID_INSULIN_PATHWAY;PID_PTP1BPATHWAY;PID_TCPTP_PATHWAY;PID_INSULIN_GLUCOSE_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_GH_PATHWAY;BIOCARTA_INSULIN_PATHWAY	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_SIGNAL_ATTENUATION;REACTOME_PI3K_CASCADE;REACTOME_SHC_RELATED_EVENTS	PS1,PS3,BA1
L	19	10475652	rs2304256	C	A	224.1	PASS	TYK2	tyrosine kinase 2	exonic	NM_003331	.	missense SNV	TYK2:NM_003331:exon8:c.G1084T:p.V362F	ENST00000529370.1,ENST00000525621.1,ENST00000524462.1,ENST00000264818.6	.	19p13.2	.	.	.	.	.	rs2304256	.	Type 1 diabetes,Type 1 diabetes autoantibodies	0.55814	0.5238	0.265775	0.2246	0.2768	0.5187	0.422664741194	0.496394675481	0.051,T	0.097,B	0.421,B	1,P	0.583836,N	1.04,L	2.93,T	6.2456	-0.107	-0.040	1.111796,11.28	.	AC=27;AN=40;BQB=0.941686;DP4=298,226,494,407;DP=1938;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.743634;SF=0,1,2,3,4,8,9,10,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.693139;VDB=0.339922	GT:DP:DV:PL	0/1:70:36:255,0,255	0/1:59:29:255,0,255	0/1:69:29:255,0,255	0/1:71:34:255,0,255	1/1:55:55:255,166,0	.	.	.	0/1:72:32:255,0,255	1/1:46:46:255,138,0	0/1:80:37:255,0,255	.	0/1:66:33:255,0,255	0/1:84:42:255,0,255	1/1:70:70:255,211,0	1/1:58:58:255,175,0	1/1:75:75:255,226,0	0/1:58:29:255,0,255	1/1:68:68:255,205,0	0/1:83:44:255,0,255	1/1:56:56:255,169,0	0/1:129:62:255,0,255	0/1:46:21:255,0,255	.	0/1:110:45:255,0,255	C	A	7	13	Immunodeficiency 35, 611521 (3)	21829393(1E-10);19966805(4E-9)	Systemic lupus erythematosus, susceptibility association with(CM050351)	GTC-TTC|Val362Phe|c.1084G>T|p.V362F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15657875&dopt=Abstract)	15657875|22402565|17088085|15657875|15578097|12719789|12554654|11309383|11070173|8432525|2216457|2156206	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL27PATHWAY;PID_PTP1BPATHWAY;PID_IL12_2PATHWAY;PID_IL6_7PATHWAY;PID_IL23PATHWAY	BIOCARTA_IL6_PATHWAY;BIOCARTA_IL12_PATHWAY;BIOCARTA_IL22BP_PATHWAY;BIOCARTA_NO2IL12_PATHWAY	REACTOME_SIGNALING_BY_ILS;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_REGULATION_OF_IFNA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IL_6_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	19	11221457	rs12710260	G	C	223	PASS	LDLR	low density lipoprotein receptor	splicing	NM_000527,NM_001195798,NM_001195799,NM_001195800,NM_001195803	NM_000527:exon7:c.1060+10G>C;NM_001195798:exon7:c.1060+10G>C;NM_001195799:exon6:c.937+10G>C;NM_001195800:exon5:c.556+10G>C;NM_001195803:exon6:c.679+10G>C	.	.	ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000455727.2,ENST00000558518.1,ENST00000557933.1	.	19p13.2	.	.	.	.	.	rs12710260	.	.	0.174419	0.1825	0.276957	0.3377	0.3849	0.1703	0.124043056355	0.147836832933	.	.	.	.	.	.	.	.	-1.018	-2.138	.	.	AC=14;AN=24;BQB=0.952758;DP4=344,143,455,163;DP=1520;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.395218;SF=0,1,4,6,11,12,13,15,16,17,20,24;SGB=-0.693147;VDB=7.92939e-05	GT:DP:DV:PL	0/1:92:52:255,0,255	0/1:85:36:255,0,255	.	.	0/1:74:39:255,0,255	.	0/1:87:33:255,0,255	.	.	.	.	1/1:62:62:255,187,0	0/1:87:47:255,0,255	0/1:126:62:255,0,255	.	0/1:98:44:255,0,255	0/1:86:48:255,0,255	1/1:83:83:255,250,0	.	.	0/1:98:45:255,0,255	.	.	.	0/1:127:67:255,0,255	G	C	2	10	Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3)	.	Hypercholesterolaemia(CS022877) || Hypercholesterolaemia(CS040544)	IVS7 ds G-A +10|c.1060+10G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12436241&dopt=Abstract) || IVS7 ds G-C +10|c.1060+10G>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14974088&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23375686&dopt=Abstract)	12436241|14974088|23375686|25487149|20703241|20686565|20506408|19620499|19520913|19060911|18400033|18354102|18252823|17431181|17335829|14756670|14673705|14616764|14209286|12910492|12522687|12459547|12436241|12009418|11491306|11389828|11309683|11298688|11246453|10882754|10631147|10535997|10422803|9853432|9744476|9678702|9645910|9412789|9409302|9222758|9143924|9016531|8911609|8528204|8098448|8096412|8054972|7903269|7718019|7586658|7581403|7573037|7437743|7426196|6327078|6326146|6291781|6209580|6118572|6091915|6089204|4718953|4362634|4001923|3955657|3924410|3873704|3866240|3818645|3815525|3627182|3572996|3549308|3472763|3430554|3425583|3419517|3343347|3263645|3198114|3155573|3128713|3020025|3012527|2999774|2993159|2988123|2920733|2918524|2901412|2901393|2887506|2837085|2831865|2805380|2777800|2760205|2760198|2726768|2575592|2570157|2569482|2568090|2544509|2451775|2352257|2318961|2088165|1999337|1978682|1978630|1959928|1952806|1937486|1867200|1863993|1830890|1757095|1734722|1727071|1677927|1634609|1634234|1609792|1493640|1464748|1446662|1439789|1372927|1362925|1348044|1301956|975893|236556|226968|200368|189940	GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;LIPID_TRANSPORT;LIPOPROTEIN_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;DIGESTION;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	KEGG_ENDOCYTOSIS	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	19	11227602	rs688	C	T	208.27	PASS	LDLR	low density lipoprotein receptor	exonic	NM_000527,NM_001195798,NM_001195799,NM_001195800,NM_001195803	.	synonymous SNV	LDLR:NM_001195800:exon10:c.C1269T:p.N423N,LDLR:NM_001195799:exon11:c.C1650T:p.N550N,LDLR:NM_001195803:exon11:c.C1392T:p.N464N,LDLR:NM_000527:exon12:c.C1773T:p.N591N,LDLR:NM_001195798:exon12:c.C1773T:p.N591N	ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000455727.2,ENST00000558518.1,ENST00000557933.1	.	19p13.2	.	.	.	.	.	rs688	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000182338.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.174419	0.1835	0.275759	0.3352	0.3781	0.1763	0.130168611026	0.149038748798	.	.	.	.	.	.	.	.	-0.972	-3.315	.	.	AC=13;AN=22;BQB=0.214677;DP4=144,25,164,28;DP=474;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981184;SF=1,4,6,11,12,13,15,16,17,20,24;SGB=-0.683931;VDB=0.785479	GT:DP:DV:PL	.	0/1:34:13:224,0,255	.	.	0/1:40:17:240,0,255	.	0/1:32:15:254,0,255	.	.	.	.	1/1:24:24:255,72,0	0/1:26:17:255,0,168	0/1:35:16:255,0,255	.	0/1:30:12:240,0,255	0/1:38:15:255,0,255	1/1:38:38:255,114,0	.	.	0/1:38:14:209,0,255	.	.	.	0/1:26:11:201,0,255	C	T	2	9	Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3)	.	Increased plasma LDL cholesterol, association with(CM984053)	AAC-AAT|Asn591Asn|c.1773C>T|p.N591N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9747026&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23297366&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20232416&dopt=Abstract)	9747026|23297366|20232416|25487149|20703241|20686565|20506408|19620499|19520913|19060911|18400033|18354102|18252823|17431181|17335829|14756670|14673705|14616764|14209286|12910492|12522687|12459547|12436241|12009418|11491306|11389828|11309683|11298688|11246453|10882754|10631147|10535997|10422803|9853432|9744476|9678702|9645910|9412789|9409302|9222758|9143924|9016531|8911609|8528204|8098448|8096412|8054972|7903269|7718019|7586658|7581403|7573037|7437743|7426196|6327078|6326146|6291781|6209580|6118572|6091915|6089204|4718953|4362634|4001923|3955657|3924410|3873704|3866240|3818645|3815525|3627182|3572996|3549308|3472763|3430554|3425583|3419517|3343347|3263645|3198114|3155573|3128713|3020025|3012527|2999774|2993159|2988123|2920733|2918524|2901412|2901393|2887506|2837085|2831865|2805380|2777800|2760205|2760198|2726768|2575592|2570157|2569482|2568090|2544509|2451775|2352257|2318961|2088165|1999337|1978682|1978630|1959928|1952806|1937486|1867200|1863993|1830890|1757095|1734722|1727071|1677927|1634609|1634234|1609792|1493640|1464748|1446662|1439789|1372927|1362925|1348044|1301956|975893|236556|226968|200368|189940	GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;LIPID_TRANSPORT;LIPOPROTEIN_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;DIGESTION;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	KEGG_ENDOCYTOSIS	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	19	11230881	rs5925	T	C	223.09	PASS	LDLR	low density lipoprotein receptor	exonic	NM_000527,NM_001195798,NM_001195799,NM_001195800,NM_001195803	.	synonymous SNV	LDLR:NM_001195800:exon11:c.T1455C:p.V485V,LDLR:NM_001195799:exon12:c.T1836C:p.V612V,LDLR:NM_001195803:exon12:c.T1578C:p.V526V,LDLR:NM_000527:exon13:c.T1959C:p.V653V,LDLR:NM_001195798:exon13:c.T1959C:p.V653V	ENST00000535915.1,ENST00000545707.1,ENST00000558013.1,ENST00000455727.2,ENST00000558518.1,ENST00000557933.1	.	19p13.2	.	.	.	.	.	rs5925	.	.	0.204319	0.2163	0.335863	0.3662	0.4092	0.2205	0.162327502297	0.186298002404	.	.	.	.	.	.	.	.	0.683	0.021	.	3.22	AC=13;AN=22;BQB=0.999933;DP4=257,75,349,81;DP=1020;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.939397;SF=1,4,6,11,12,13,15,16,17,20,24;SGB=-0.693145;VDB=0.846056	GT:DP:DV:PL	.	0/1:71:40:255,0,255	.	.	0/1:85:42:255,0,255	.	0/1:63:23:255,0,255	.	.	.	.	1/1:57:56:255,135,0	0/1:70:34:255,0,255	0/1:76:40:255,0,255	.	0/1:58:28:255,0,255	0/1:78:40:255,0,255	1/1:45:45:255,135,0	.	.	0/1:77:40:255,0,255	.	.	.	0/1:82:42:255,0,255	T	C	2	9	Hypercholesterolemia, familial, 143890 (3); LDL cholesterol level QTL2, 143890 (3)	.	Increased plasma LDL cholesterol(CM080431)	GTT-GTC|Val653Val|c.1959T>C|p.V653V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17766366&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20628808&dopt=Abstract)	17766366|20628808|25487149|20703241|20686565|20506408|19620499|19520913|19060911|18400033|18354102|18252823|17431181|17335829|14756670|14673705|14616764|14209286|12910492|12522687|12459547|12436241|12009418|11491306|11389828|11309683|11298688|11246453|10882754|10631147|10535997|10422803|9853432|9744476|9678702|9645910|9412789|9409302|9222758|9143924|9016531|8911609|8528204|8098448|8096412|8054972|7903269|7718019|7586658|7581403|7573037|7437743|7426196|6327078|6326146|6291781|6209580|6118572|6091915|6089204|4718953|4362634|4001923|3955657|3924410|3873704|3866240|3818645|3815525|3627182|3572996|3549308|3472763|3430554|3425583|3419517|3343347|3263645|3198114|3155573|3128713|3020025|3012527|2999774|2993159|2988123|2920733|2918524|2901412|2901393|2887506|2837085|2831865|2805380|2777800|2760205|2760198|2726768|2575592|2570157|2569482|2568090|2544509|2451775|2352257|2318961|2088165|1999337|1978682|1978630|1959928|1952806|1937486|1867200|1863993|1830890|1757095|1734722|1727071|1677927|1634609|1634234|1609792|1493640|1464748|1446662|1439789|1372927|1362925|1348044|1301956|975893|236556|226968|200368|189940	GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;LIPID_TRANSPORT;LIPOPROTEIN_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;DIGESTION;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	KEGG_ENDOCYTOSIS	.	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	19	13319693	rs16051	A	G	195	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_000068,NM_001127221,NM_001127222,NM_001174080,NM_023035	.	synonymous SNV	CACNA1A:NM_001127221:exon46:c.T6660C:p.H2220H,CACNA1A:NM_001127222:exon46:c.T6657C:p.H2219H	ENST00000573710.2,ENST00000360228.5	CpG: 45	19p13.2	.	.	Score=736;Name=V$HOX13_01	.	.	rs16051	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000079479.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.799003	0.7897	0.686901	0.6088	0.6160	0.7601	0.396307	0.697115211538	.	.	.	.	.	.	.	.	0.501	0.000	.	.	AC=41;AN=50;BQB=0.977346;DP4=174,18,675,55;DP=1244;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.930786;MQSB=0.994945;RPB=0.969954;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.355085	GT:DP:DV:PL	0/1:36:13:139,0,255	0/1:52:24:224,0,255	0/1:47:21:200,0,229	0/1:50:28:226,0,255	1/1:9:9:100,27,0	1/1:48:48:255,144,0	1/1:41:41:255,123,0	0/1:49:31:255,0,160	1/1:24:24:228,72,0	0/1:28:17:189,0,151	1/1:37:37:255,111,0	0/1:31:17:161,0,165	1/1:54:54:255,163,0	1/1:48:48:255,144,0	1/1:39:39:255,117,0	1/1:23:23:252,69,0	1/1:35:35:252,105,0	1/1:30:30:225,87,0	1/1:34:34:255,102,0	0/1:35:15:170,0,163	0/1:50:20:184,0,247	1/1:35:35:255,105,0	1/1:10:10:249,30,0	1/1:52:52:255,157,0	1/1:25:25:255,75,0	A	G	16	9	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	Episodic ataxia 2(CI1311983)	ACCAC^2219CACCAccaTCCCCCGCCC|c.6657_6659dupCCA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24046065&dopt=Abstract)	24046065|23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	PS1,PS3,BA1
L	19	17303774	rs1545620	T	G	224.41	PASS	MYO9B	myosin IXB	exonic	NM_001130065,NM_004145	.	missense SNV	MYO9B:NM_001130065:exon21:c.T3031G:p.S1011A,MYO9B:NM_004145:exon21:c.T3031G:p.S1011A	ENST00000595618.1,ENST00000397274.2,ENST00000594824.1	CpG: 25	19p13.11	.	.	.	.	.	rs1545620	.	.	0.742525	0.7391	0.644369	0.5247	0.5490	0.7774	0.584226880551	0.673076887019	1.0,T	0.001,B	0.0,B	1,P	0.648098,N	-1.72,N	2.01,T	0.9756	0.092	0.669	.	.	AC=32;AN=44;BQB=0.992935;DP4=187,78,425,139;DP=1067;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995088;SF=0,1,2,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.693132;VDB=0.648811	GT:DP:DV:PL	1/1:34:34:255,102,0	0/1:31:17:255,0,255	0/1:50:20:255,0,255	.	1/1:32:32:255,96,0	.	1/1:46:46:255,135,0	0/1:39:15:255,0,255	1/1:29:29:255,87,0	1/1:23:23:255,69,0	1/1:39:39:255,117,0	1/1:29:29:255,87,0	0/1:27:15:255,0,254	1/1:41:41:255,123,0	0/1:40:24:255,0,255	0/1:42:21:255,0,255	0/1:35:18:255,0,252	0/1:21:9:248,0,245	0/1:45:15:255,0,255	0/1:50:21:255,0,255	0/1:46:17:255,0,255	0/1:61:30:255,0,255	.	1/1:33:33:255,99,0	1/1:36:36:255,108,0	T	G	10	12	{Celiac disease, susceptibility to, 4}, 609753 (3)	.	Inflammatory bowel disease, association with(CM066145)	GCA-TCA|Ala1011Ser|c.3031G>T|p.A1011S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17087940&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24386489&dopt=Abstract)	17087940|24386489|16282976|15644318|11901422|11801597|9490638|9226381|8907710	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ACTIN_FILAMENT_BASED_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;TRANSPORT;CELLULAR_LOCALIZATION;ACTIN_FILAMENT_BASED_MOVEMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;PERINUCLEAR_REGION_OF_CYTOPLASM;CELL_CORTEX;ACTIN_FILAMENT;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOTIDE_BINDING;RAS_GTPASE_ACTIVATOR_ACTIVITY;PROTEIN_HOMODIMERIZATION_ACTIVITY;GTPASE_REGULATOR_ACTIVITY;PURINE_NUCLEOTIDE_BINDING;ENZYME_ACTIVATOR_ACTIVITY;IDENTICAL_PROTEIN_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ADP_BINDING;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;MOTOR_ACTIVITY;RHO_GTPASE_ACTIVATOR_ACTIVITY;ATPASE_ACTIVITY;GTPASE_ACTIVATOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;CALMODULIN_BINDING;PYROPHOSPHATASE_ACTIVITY;ATP_BINDING	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES	PS1,PS3,BA1
L	19	35524944	rs67486287	G	C	222.5	PASS	SCN1B	sodium channel, voltage gated, type I beta subunit	exonic	NM_199037	.	missense SNV	SCN1B:NM_199037:exon3:c.G749C:p.R250T	ENST00000262631.5,ENST00000595652.1,ENST00000415950.3,ENST00000596348.1	.	19q13.12	.	.	.	.	Score=239;Name="2173279:MIR(SINE)"	rs67486287	CLINSIG=Benign\x2cBenign|Benign;CLNDBN=not_specified\x2cCardiac_arrhythmia|not_specified;CLNACC=RCV000127907.3,RCV000030435.1|RCV000127908.4;CLNDSDB=MedGen\x2cMedGen:OMIM|MedGen;CLNDSDBID=CN169374\x2cCN029864:115000|CN169374	.	0.187708	0.1825	0.119209	0.1164	0.1427	0.2053	0.0880682	0.163461798077	0.0,D	0.058,B	0.218,B	1,P	.	.	-2.6,D	5.1292	0.750	0.862	1.237630,11.94	.	AC=13;AN=24;BQB=0.50373;DP4=257,174,246,158;DP=1172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9234;SF=0,1,2,4,7,8,10,11,14,15,20,23;SGB=-0.693147;VDB=0.0195138	GT:DP:DV:PL	1/1:69:69:255,208,0	0/1:54:21:255,0,255	0/1:72:36:255,0,255	.	0/1:57:21:255,0,255	.	.	0/1:88:44:255,0,255	0/1:67:28:255,0,255	.	0/1:66:28:255,0,255	0/1:57:25:255,0,255	.	.	0/1:70:27:255,0,255	0/1:43:21:255,0,255	.	.	.	.	0/1:81:32:255,0,255	.	.	0/1:111:52:255,0,255	.	G	C	1	11	Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3); Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3)	.	Epilepsy, idiopathic(CM115448)	AGG-ACG|Arg250Thr|c.749G>C|p.R250T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21703448&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22155597&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21994374&dopt=Abstract)	21703448|22155597|21994374|21051419|19808477|18464934|15102918|14622265|14504340|12011299|11866477|10688874|9697698|9126059|8394762|7851891	ESTABLISHMENT_OF_LOCALIZATION;CELL_CELL_SIGNALING;METAL_ION_TRANSPORT;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	PS1,PS3,BA1
L	19	36334419	rs437168	G	A	222.75	PASS	NPHS1	nephrosis 1, congenital, Finnish type (nephrin)	exonic	NM_004646	.	synonymous SNV	NPHS1:NM_004646:exon17:c.C2289T:p.V763V	ENST00000378910.5,ENST00000353632.6	.	19q13.12	.	.	Score=815;Name=V$COMP1_01	.	.	rs437168	.	.	0.149502	0.1488	0.19369	0.1761	0.0854	0.1533	0.124043182236	0.141827132212	.	.	.	.	.	.	.	.	-1.546	-1.102	1.298614,12.26	.	AC=9;AN=16;BQB=0.930282;DP4=176,112,182,147;DP=859;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992396;SF=2,5,8,9,13,15,20,24;SGB=-0.693147;VDB=0.036654	GT:DP:DV:PL	.	.	1/1:81:81:255,244,0	.	.	0/1:81:36:255,0,255	.	.	0/1:78:34:255,0,255	0/1:67:26:255,0,255	.	.	.	0/1:91:50:255,0,255	.	0/1:65:32:255,0,255	.	.	.	.	0/1:75:35:255,0,255	.	.	.	0/1:79:35:255,0,255	G	A	1	7	Nephrotic syndrome, type 1, 256300 (3)	.	Congenital nephrotic syndrome, Finnish type(CI024197)	TCTGC^762ACTGTtCGATGCCAAT|c.2288dupT(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12495287&dopt=Abstract)	12495287|22398450|21402589|19470472|19443487|17413422|17290294|16525419|15545998|15177566|14570703|12865409|12039968|11854170|11726550|11317351|11136707|10652016|10577936|10393930|9915943|9660941|9543371	ESTABLISHMENT_OF_LOCALIZATION;EXCRETION;SECRETION;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_NEPHRIN_NEPH1_PATHWAY	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_NEPHRIN_INTERACTIONS	PS1,PS3,BA1
L	19	41224204	rs28493229	G	C	219	PASS	ITPKC	inositol-trisphosphate 3-kinase C	splicing	NM_025194	NM_025194:exon1:c.1155+9G>C	.	.	ENST00000263370.2	.	19q13.2	.	.	.	.	.	rs28493229	.	Kawasaki disease	0.0498339	0.0655	0.0858626	0.0885	0.1244	0.0711	0.0498339	0.0625000165865	.	.	.	.	.	.	.	.	2.465	0.882	1.656738,14.16	2.87	AC=3;AN=6;BQB=0.398871;DP4=21,27,17,24;DP=107;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.182684;SF=16,19,20;SGB=-0.688148;VDB=0.042745	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:15:246,0,255	.	.	0/1:28:12:255,0,255	0/1:28:14:255,0,255	.	.	.	.	G	C	0	3	{Kawasaki disease, susceptibility to}, 611775 (3)	22081228(2E-12)	Kawasaki disease, association with(CS080711)	IVS1 ds G-C +9|c.1155+9G>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18084290&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20045869&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22081228&dopt=Abstract)	18084290|20045869|22081228|20045869|18084290|17160344|14517551|11085927|6062087	.	.	.	.	.	.	.	PS1,PS3,BA1
L	19	41349874	rs143731390	T	A	127.8	PASS	CYP2A6	cytochrome P450, family 2, subfamily A, polypeptide 6	exonic	NM_000762	.	missense SNV	CYP2A6:NM_000762:exon9:c.A1312T:p.N438Y	ENST00000601627.1,ENST00000301141.5	.	19q13.2	.	.	.	Score=0.962735;Name=chr19:41367420	.	rs143731390	.	.	.	.	.	.	0.1020	0.1278	.	.	0.258,T	0.003,B	0.0,B	1,N	0.732884,N	0.205,N	-0.52,T	8.1283	-0.219	-1.153	.	.	AC=5;AN=10;BQB=0.654147;DP4=83,240,38,118;DP=581;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=0.992357;MQSB=0.978957;RPB=0.58382;SF=6,12,13,16,20;SGB=-0.690438;VDB=0.00196273	GT:DP:DV:PL	.	.	.	.	.	.	0/1:63:17:86,0,255	.	.	.	.	.	0/1:94:49:255,0,255	0/1:110:24:121,0,255	.	.	0/1:117:45:255,0,255	.	.	.	0/1:95:21:92,0,255	.	.	.	.	T	A	0	5	Coumarin resistance, 122700 (3); {Nicotine addiction, protection from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3)	.	Poor metaboliser(CM083625)	AAC-TAC|Asn438Tyr|c.1312A>T|p.N438Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18360915&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22382327&dopt=Abstract)	18360915|22382327|18360915|15940289|14209971|12721789|12325023|12042667|11692077|11281276|10441482|10235258|10217419|10093988|9827545|9655391|9587945|9409631|8937855|8432525|8188299|7678494|7668294|4366489|4011450|3856261|3674750|3481957|3304150|3000277|2765478|2748347|2726448|2322568|2322567|1973143|1663211|1661149|1302041|964289|566237|229404	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_RETINOL_METABOLISM;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PS1,PS3,BA1
L	19	41350664	rs1809810	A	T	227.76	PASS	CYP2A6	cytochrome P450, family 2, subfamily A, polypeptide 6	exonic	NM_000762	.	missense SNV	CYP2A6:NM_000762:exon8:c.T1175A:p.F392Y	ENST00000601627.1,ENST00000301141.5	.	19q13.2	.	.	.	Score=0.962735;Name=chr19:41367420	.	rs1809810	.	.	0.991694	0.9891	0.986422	.	0.9876	0.9876	0.777947525268	0.884615177885	0.622,T	0.084,B	0.012,B	0.989183,P	0.013242,U	0.695,N	-0.35,T	6.0955	0.286	1.695	1.082742,11.12	2.31	AC=49;AN=50;BQB=1;DP4=26,17,927,781;DP=2551;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.935714;MQSB=0.965233;RPB=0.264317;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=2.81223e-05	GT:DP:DV:PL	1/1:86:86:255,255,0	1/1:41:41:255,123,0	1/1:70:70:255,211,0	1/1:73:73:255,220,0	1/1:59:59:255,178,0	1/1:98:98:255,255,0	0/1:83:40:255,0,255	1/1:81:81:255,244,0	1/1:45:45:255,135,0	1/1:56:56:255,169,0	1/1:50:50:255,151,0	1/1:78:78:255,235,0	1/1:60:60:255,181,0	1/1:86:86:255,255,0	1/1:79:79:255,238,0	1/1:38:38:255,114,0	1/1:83:83:255,250,0	1/1:68:68:255,205,0	1/1:73:73:255,220,0	1/1:35:35:255,105,0	1/1:85:85:255,255,0	1/1:90:90:255,255,0	1/1:34:34:255,102,0	1/1:94:94:255,255,0	1/1:106:106:255,255,0	A	T	24	1	Coumarin resistance, 122700 (3); {Nicotine addiction, protection from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3)	.	Poor metaboliser(CM057913)	TAC-TTC|Tyr392Phe|c.1175A>T|p.Y392F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15900015&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22382327&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	15900015|22382327|25525159|18360915|15940289|14209971|12721789|12325023|12042667|11692077|11281276|10441482|10235258|10217419|10093988|9827545|9655391|9587945|9409631|8937855|8432525|8188299|7678494|7668294|4366489|4011450|3856261|3674750|3481957|3304150|3000277|2765478|2748347|2726448|2322568|2322567|1973143|1663211|1661149|1302041|964289|566237|229404	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_RETINOL_METABOLISM;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PS1,PS3,BA1
L	19	41356281	rs1137115	T	C	226.09	PASS	CYP2A6	cytochrome P450, family 2, subfamily A, polypeptide 6	exonic	NM_000762	.	synonymous SNV	CYP2A6:NM_000762:exon1:c.A51G:p.V17V	ENST00000601627.1,ENST00000301141.5	.	19q13.2	.	.	.	Score=0.962735;Name=chr19:41367420	.	rs1137115	.	.	0.765781	0.7867	0.760583	0.7582	0.7537	0.7788	0.595712173047	0.67548084375	.	.	.	.	.	.	.	.	-3.272	-0.898	.	.	AC=37;AN=44;BQB=0.408023;DP4=206,167,1142,763;DP=3257;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.840744;SF=0,1,2,4,5,6,7,8,9,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=1.88679e-05	GT:DP:DV:PL	1/1:113:113:255,255,0	1/1:47:47:255,141,0	0/1:101:57:255,0,255	.	0/1:109:66:255,0,255	1/1:163:162:255,255,0	1/1:119:119:255,255,0	1/1:114:114:255,255,0	1/1:38:38:255,114,0	1/1:88:88:255,255,0	.	0/1:104:47:255,0,255	1/1:91:91:255,255,0	1/1:123:123:255,255,0	0/1:109:58:255,0,255	1/1:46:46:255,138,0	1/1:125:125:255,255,0	1/1:98:98:255,255,0	0/1:79:38:255,0,255	.	0/1:127:69:255,0,255	0/1:149:71:255,0,255	1/1:53:53:255,160,0	1/1:157:157:255,255,0	1/1:125:125:255,255,0	T	C	15	7	Coumarin resistance, 122700 (3); {Nicotine addiction, protection from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3)	.	Poor metaboliser(CS1314366)	IVS1 ds A-G -130|c.51A>G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23292114&dopt=Abstract)	23292114|18360915|15940289|14209971|12721789|12325023|12042667|11692077|11281276|10441482|10235258|10217419|10093988|9827545|9655391|9587945|9409631|8937855|8432525|8188299|7678494|7668294|4366489|4011450|3856261|3674750|3481957|3304150|3000277|2765478|2748347|2726448|2322568|2322567|1973143|1663211|1661149|1302041|964289|566237|229404	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_RETINOL_METABOLISM;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PS1,PS3,BA1
L	19	45316804	rs3810141	C	T	221.5	PASS	BCAM	basal cell adhesion molecule (Lutheran blood group)	exonic	NM_001013257,NM_005581	.	synonymous SNV	BCAM:NM_001013257:exon6:c.C711T:p.C237C,BCAM:NM_005581:exon6:c.C711T:p.C237C	ENST00000589651.1,ENST00000270233.6	CpG: 31	19q13.32	.	.	.	.	.	rs3810141	CLINSIG=Pathogenic;CLNDBN=BLOOD_GROUP--LUTHERAN_NULL;CLNACC=RCV000000471.2;CLNDSDB=.;CLNDSDBID=.	.	0.0431894	0.0466	0.10004	0.0714	0.0880	0.0331	0.0260336854518	0.0360577137019	.	.	.	.	.	.	.	.	-0.769	-0.578	.	.	AC=2;AN=4;BQB=0.927438;DP4=27,24,25,30;DP=132;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.628291;SF=17,20;SGB=-0.69312;VDB=0.148952	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:32:255,0,229	.	.	0/1:61:23:255,0,255	.	.	.	.	C	T	0	2	[Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3)	.	Blood group variation(CM973376)	TGC-TGA|Cys237Term|c.711C>A|p.C237*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17319831&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	17319831|25525159|14829286|14496427|14025138|11133776|9192786|9166867|8781446|7954395|7777537|6745937|3250330|2907851|2644738|2339521|1862644|835569|752556	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	19	45409167	rs440446	C	G	192.98	PASS	APOE	apolipoprotein E	exonic	NM_001302688	.	missense SNV	APOE:NM_001302688:exon1:c.C42G:p.N14K	ENST00000252486.4	.	19q13.32	.	.	.	.	.	rs440446	.	.	0.420266	0.4276	0.626198	.	0.5873	0.4346	0.194602	0.373798259615	0.014,D	.	.	0.999994,P	.	.	.	4.7565	-0.610	-1.569	.	.	AC=18;AN=28;BQB=0.31698;DP4=45,38,101,88;DP=376;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=1;RPB=0.623736;SF=0,1,2,3,5,9,11,13,17,18,19,20,22,24;SGB=-0.616816;VDB=0.397713	GT:DP:DV:PL	0/1:13:6:174,0,236	1/1:24:24:255,72,0	0/1:14:8:231,0,206	1/1:25:25:255,75,0	.	1/1:27:27:255,81,0	.	.	.	0/1:15:10:255,0,134	.	0/1:14:6:192,0,255	.	0/1:38:18:255,0,255	.	.	.	0/1:17:10:215,0,132	0/1:14:8:215,0,191	0/1:22:10:255,0,255	1/1:18:18:255,54,0	.	0/1:7:3:74,0,133	.	0/1:24:16:255,0,241	C	G	4	10	Hyperlipoproteinemia, type III (3); {Myocardial infarction susceptibility} (3); Sea-blue histiocyte disease, 269600 (3); Alzheimer disease-2, 104310 (3); {?Macular degeneration, age-related}, 603075 (3); Lipoprotein glomerulopathy, 611771 (3)	.	Percentage fat mass, association with(CR033687)	GGCCTCTAGAAAGAGCTGGGACCCTGGGAA(G-C)CCCTGGCCTCCAGGTAGTCTCAGGAGAGCT -715 relative to initiation codon(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14684691&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22028770&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20031552&dopt=Abstract)	14684691|22028770|20031552|24145446|23883936|23492875|22763456|22622580|20479360|19786693|19605830|19255409|19164761|18583979|18562290|18354102|18334912|18077821|17709709|17636061|17524782|17310043|17310023|17283313|17077142|17006673|16894123|16831961|16708071|16453339|16437577|16358334|16344479|16344478|16299033|16278853|16208376|16143024|16116137|16094309|16091415|16079201|15956169|15883313|15815632|15699383|15668424|15657137|15596614|15567863|15557508|15452327|15452327|15385439|15326261|15326239|15286151|15210882|15184629|15184605|15184602|15184600|15131116|15096402|15048896|15007140|14769603|14741101|14684691|14530190|12963757|12939405|12920078|12891668|12821754|12817590|12774036|12742846|12552039|12533090|12509421|12438664|12431986|12393895|12198535|12117364|12107813|12105308|11992263|11971084|11940706|11940690|11940689|11835377|11807891|11756601|11755850|11723294|11709540|11673612|11673610|11673593|11579084|11558492|11447277|11445633|11443525|11425936|11409425|11401610|11384575|11320185|11278162|11171894|11160955|11113217|11095479|11087769|11076954|11038359|11024044|11015124|10986041|10903326|10889546|10861286|10822435|10767336|10746713|10738542|10694577|10648765|10587578|10522889|10432380|10213549|10190327|10079115|10051007|9932938|9697689|9649566|9566379|9514597|9218423|9189032|9176854|9106542|9012418|8911609|8882873|8787841|8757051|8757018|8757017|8710076|8709703|8702415|8651872|8644745|8644717|8619558|8619557|8619535|8618881|8618665|8615081|8614828|8592548|8534415|8526471|8488843|8446617|8367470|8350998|8346443|8136829|8103823|8103819|8103818|8102761|8042228|8042228|8040342|8035940|7998776|7968026|7964823|7944308|7944299|7920638|7910910|7863332|7841371|7833947|7824144|7761390|7724603|7696609|7696597|7675243|7670501|7668835|7668834|7657831|7654074|7654070|7635947|7635945|7586659|7585009|7581381|7574468|7566000|7498406|7498401|7485228|7473659|7468588|7464557|7455696|7386461|7263700|7199983|7175379|7169215|7106770|7068630|6933487|6860421|6795720|6745937|6726088|6713705|6712769|6698548|6698547|6480826|6327682|6323533|6313758|6309907|6309903|6300187|6294137|6289314|6277903|6270194|6261329|6199196|6130351|6124804|6094053|5333808|4829776|3922972|3909150|3802561|3771793|3745433|3721502|3690877|3585172|3459164|3337104|3283935|3243553|3038959|3029073|3004475|2992507|2987927|2851587|2791332|2738044|2572535|2556448|2556398|2539388|2492364|2470732|2341812|2313204|2101409|2019410|1878006|1864973|1730728|1713245|1674745|1648586|1617762|1584779|1423598|1423585|1411543|1381696|1361196|1360898|1360061|1360061|1360057|1357300|1356443|1352296|759055|215360|200163|200161|200160|198168|189159|163608|163606|68276	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;NEURITE_DEVELOPMENT;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_SYNAPSE_STRUCTURE_AND_ACTIVITY;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;REGULATION_OF_AXONOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;LIPID_TRANSPORT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;BEHAVIOR;REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;SYNAPTIC_TRANSMISSION;LIPID_HOMEOSTASIS;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;HOMEOSTATIC_PROCESS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;LEARNING_AND_OR_MEMORY;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_NEUROGENESIS;NEUROGENESIS;CHEMICAL_HOMEOSTASIS;CELLULAR_LOCALIZATION;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;TRANSMISSION_OF_NERVE_IMPULSE;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;SYSTEM_PROCESS;APOPTOSIS_GO;RHO_PROTEIN_SIGNAL_TRANSDUCTION	EXTRACELLULAR_REGION;CYTOPLASM	LIPID_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;PHOSPHOLIPID_BINDING;IDENTICAL_PROTEIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ALZHEIMERS_DISEASE	.	.	REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	PS1,PS3,BA1
L	19	45867259	rs1799793	C	T	217.2	PASS	ERCC2	excision repair cross-complementation group 2	exonic	NM_000400,NM_001130867	.	missense SNV	ERCC2:NM_001130867:exon9:c.G862A:p.D288N,ERCC2:NM_000400:exon10:c.G934A:p.D312N	ENST00000485403.2,ENST00000391944.3,ENST00000221481.6,ENST00000391940.4,ENST00000391945.4	CpG: 44	19q13.32	.	.	Score=746;Name=V$NRSF_01	.	.	rs1799793	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000120789.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0498339	0.0496	0.194489	0.2438	0.3788	0.1333	0.0405819600306	0.0480769432692	0.152,T	0.201,B	0.461,P	4.88517e-09,P	0.000000,D	1.825,L	-0.1,T	16.1268	2.388	7.194	4.307731,24.0	5.15	AC=5;AN=10;BQB=0.993868;DP4=88,74,88,54;DP=365;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.805914;SF=1,4,16,20,21;SGB=-0.69312;VDB=0.406803	GT:DP:DV:PL	.	0/1:55:32:255,0,255	.	.	0/1:49:27:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:61:30:255,0,255	.	.	.	0/1:52:17:232,0,255	0/1:87:36:255,0,255	.	.	.	C	T	0	5	Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy 1, photosensitive, 601675 (3); Cerebrooculofacioskeletal syndrome 2, 610756 (3)	.	Increased response to UV, association with(CM015299)	GAC-AAC|Asp312Asn|c.934G>A|p.D312N(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11606376&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22184993&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14630517&dopt=Abstract)	11606376|22184993|14630517|16973432|16537383|15494306|12853965|12116233|11955452|11950998|11734544|11709541|11443545|11242112|11239393|11156600|11062454|10447254|9771713|9758621|9651581|9238033|9195225|9101292|8571952|8413672|8317059|7920640|7849702|7802014|7585650|6889677|2835663|2558854|1729695|1458537|1283322	DNA_METABOLIC_PROCESS;BIOPOLYMER_CATABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TISSUE_MORPHOGENESIS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RESPONSE_TO_LIGHT_STIMULUS;TISSUE_DEVELOPMENT;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CYCLE_CHECKPOINT_GO_0000075;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;DNA_CATABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;RESPONSE_TO_OXIDATIVE_STRESS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_CATABOLIC_PROCESS;EPIDERMIS_DEVELOPMENT;NUCLEOTIDE_EXCISION_REPAIR;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;CATABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_TRANSCRIPTION;APOPTOSIS_GO;ECTODERM_DEVELOPMENT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	DNA_HELICASE_ACTIVITY;HELICASE_ACTIVITY;PROTEIN_N_TERMINUS_BINDING;TRANSCRIPTION_ACTIVATOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING	KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_RNA_POL_I_TRANSCRIPTION_TERMINATION;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_CAPPING;REACTOME_TRANSCRIPTION_COUPLED_NER_TC_NER;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_MRNA_PROCESSING;REACTOME_TRANSCRIPTION;REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX_;REACTOME_FORMATION_OF_TRANSCRIPTION_COUPLED_NER_TC_NER_REPAIR_COMPLEX;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_DNA_REPAIR;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_FORMATION_OF_THE_HIV1_EARLY_ELONGATION_COMPLEX;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION_INITIATION	PS1,PS3,BA1
L	19	45868309	rs238406	T	G	224.53	PASS	ERCC2	excision repair cross-complementation group 2	exonic	NM_000400,NM_001130867	.	synonymous SNV	ERCC2:NM_001130867:exon5:c.A396C:p.R132R,ERCC2:NM_000400:exon6:c.A468C:p.R156R	ENST00000485403.2,ENST00000391944.3,ENST00000221481.6,ENST00000391940.4,ENST00000391945.4	.	19q13.32	.	.	.	.	.	rs238406	.	.	0.491694	0.4901	0.636182	0.6625	0.5898	0.5167	0.402756591118	0.453124769231	.	.	.	.	.	.	.	.	0.199	1.681	0.995036,10.63	.	AC=27;AN=38;BQB=0.997347;DP4=209,134,546,289;DP=1587;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.61623;SF=0,1,2,3,4,5,6,8,9,11,13,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.112374	GT:DP:DV:PL	1/1:58:58:255,175,0	1/1:54:54:255,163,0	1/1:58:58:255,175,0	0/1:43:22:255,0,255	0/1:56:29:255,0,255	0/1:104:57:255,0,255	1/1:49:49:255,148,0	.	0/1:42:21:255,0,255	0/1:37:19:255,0,255	.	0/1:46:20:255,0,255	.	1/1:66:66:255,199,0	.	.	0/1:55:25:255,0,255	0/1:56:24:255,0,255	.	1/1:59:59:255,178,0	1/1:73:73:255,220,0	0/1:97:42:255,0,255	0/1:41:20:255,0,255	0/1:103:59:255,0,255	1/1:81:80:255,207,0	T	G	8	11	Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy 1, photosensitive, 601675 (3); Cerebrooculofacioskeletal syndrome 2, 610756 (3)	.	Lung adenocarcinoma, increased risk, association with(CM057545)	CGC-CGA|Arg156Arg|c.468C>A|p.R156R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15896456&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18230301&dopt=Abstract)	15896456|18230301|16973432|16537383|15494306|12853965|12116233|11955452|11950998|11734544|11709541|11443545|11242112|11239393|11156600|11062454|10447254|9771713|9758621|9651581|9238033|9195225|9101292|8571952|8413672|8317059|7920640|7849702|7802014|7585650|6889677|2835663|2558854|1729695|1458537|1283322	DNA_METABOLIC_PROCESS;BIOPOLYMER_CATABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TISSUE_MORPHOGENESIS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RESPONSE_TO_LIGHT_STIMULUS;TISSUE_DEVELOPMENT;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CYCLE_CHECKPOINT_GO_0000075;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;DNA_CATABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;RESPONSE_TO_OXIDATIVE_STRESS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_CATABOLIC_PROCESS;EPIDERMIS_DEVELOPMENT;NUCLEOTIDE_EXCISION_REPAIR;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;CATABOLIC_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_TRANSCRIPTION;APOPTOSIS_GO;ECTODERM_DEVELOPMENT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	DNA_HELICASE_ACTIVITY;HELICASE_ACTIVITY;PROTEIN_N_TERMINUS_BINDING;TRANSCRIPTION_ACTIVATOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING	KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_RNA_POL_I_TRANSCRIPTION_TERMINATION;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_CAPPING;REACTOME_TRANSCRIPTION_COUPLED_NER_TC_NER;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_MRNA_PROCESSING;REACTOME_TRANSCRIPTION;REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX_;REACTOME_FORMATION_OF_TRANSCRIPTION_COUPLED_NER_TC_NER_REPAIR_COMPLEX;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_DNA_REPAIR;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_FORMATION_OF_THE_HIV1_EARLY_ELONGATION_COMPLEX;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION_INITIATION	PS1,PS3,BA1
L	19	49206631	rs1047781	A	T	224.73	PASS	FUT2	fucosyltransferase 2 (secretor status included)	exonic	NM_000511,NM_001097638	.	missense SNV	FUT2:NM_000511:exon2:c.A418T:p.I140F,FUT2:NM_001097638:exon2:c.A418T:p.I140F	ENST00000425340.2,ENST00000391876.4	CpG: 26	19q13.33	.	.	.	.	.	rs1047781	CLINSIG=Benign;CLNDBN=SECRETOR/NONSECRETOR_POLYMORPHISM\x2c_JAPANESE_TYPE;CLNACC=RCV000013811.2;CLNDSDB=.;CLNDSDBID=.	Elevated serum carcinoembryonic antigen levels,Tumor biomarkers,Vitamin B12 levels,Psoriasis	0.408638	0.4395	0.0902556	0.0007	0.0351	0.4681	0.310873099541	0.37259628125	0.002,D	0.828,P	0.978,D	0.00725269,P	.	2.915,M	-4.16,D	8.75	0.806	2.190	3.936036,23.5	3.8	AC=16;AN=22;BQB=0.0286341;DP4=246,115,536,324;DP=1694;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.998444;MQSB=0.972705;RPB=0.539929;SF=2,3,5,7,10,12,14,15,18,20,22;SGB=-0.693147;VDB=0.00316352	GT:DP:DV:PL	.	.	1/1:141:141:255,255,0	1/1:106:106:255,255,0	.	0/1:204:107:255,0,255	.	0/1:147:66:255,0,255	.	.	0/1:116:47:255,0,255	.	1/1:84:84:255,253,0	.	1/1:100:100:255,255,0	0/1:85:40:255,0,255	.	.	0/1:106:55:255,0,255	.	1/1:98:98:255,255,0	.	0/1:34:16:255,0,255	.	.	A	T	5	6	{Norwalk virus infection, resistance to} (3); [Bombay phenotype] (3); {Vitamin B12 plasma level QTL1}, 612542 (3)	23300138(8E-176);23300138(6E-209);22367966(4E-36)	Fucosyltransferase deficiency(CM960663)	ATC-TTC|Ile140Phe|c.418A>T|p.I140F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8755920&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8981090&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8981090&dopt=Abstract)	8755920|8981090|20570966|19303062|18776911|14933035|12692541|11713270|10982186|10319583|10085528|9299444|8755920|8621666|7878011|7876235|7876234|7656588|7246545|6745937|6627719|6449320|6177241|5149527|835569	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;FUCOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES;KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES	.	.	.	PS1,PS3,BA1
L	19	51323473	rs5516	C	G	226.46	PASS	KLK1	kallikrein 1	exonic	NM_002257	.	missense SNV	KLK1:NM_002257:exon3:c.G433C:p.E145Q	ENST00000301420.2,ENST00000448701.2	.	19q13.33	.	.	.	.	.	rs5516	.	.	0.818937	0.8036	0.692692	0.6554	0.6857	0.7974	0.625574182236	0.724759740385	1.0,T	0.005,B	0.0,B	1,P	.	0.37,N	-2.42,D	9.5547	-0.924	-1.962	.	.	AC=42;AN=48;BQB=0.984567;DP4=158,124,1205,881;DP=3182;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997231;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.693147;VDB=0.0273848	GT:DP:DV:PL	0/1:92:50:255,0,255	1/1:88:88:255,255,0	1/1:101:101:255,255,0	1/1:104:104:255,255,0	1/1:85:85:255,255,0	1/1:170:170:255,255,0	1/1:92:92:255,255,0	1/1:98:98:255,255,0	1/1:81:81:255,244,0	0/1:68:36:255,0,255	1/1:108:108:255,255,0	0/1:92:51:255,0,255	0/1:93:44:255,0,255	1/1:145:145:255,255,0	1/1:101:101:255,255,0	1/1:72:72:255,214,0	1/1:81:81:255,244,0	0/1:76:24:255,0,255	1/1:84:84:255,253,0	1/1:108:108:255,255,0	1/1:98:98:255,255,0	.	1/1:44:44:255,132,0	1/1:150:149:255,255,0	0/1:137:72:255,0,255	C	G	18	6	[Kallikrein, decreased urinary activity of], 615953 (3)	.	Higher systolic blood pressure, association with(CM116449)	CAG-GAG|Gln145Glu|c.433C>G|p.Q145E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20613781&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21571276&dopt=Abstract)	20613781|21571276|24005896|16800724|16763560|15765151|11912256|11226291|11054574|11006094|10783266|3853975|3004571|2898948|1684954|1385301	.	.	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	19	55536595	rs1613662	G	A	226.24	PASS	GP6	glycoprotein VI (platelet)	exonic	NM_001083899,NM_016363	.	missense SNV	GP6:NM_001083899:exon5:c.C655T:p.P219S,GP6:NM_016363:exon5:c.C655T:p.P219S	ENST00000586845.1,ENST00000310373.3,ENST00000333884.2,ENST00000593060.1,ENST00000417454.1	.	19q13.42	.	.	.	.	.	rs1613662	.	.	0.9701	0.9663	0.842652	0.8250	0.8139	0.9606	0.777182437979	0.875000252404	0.478,T	0.002,B	0.0,B	1,P	.	-0.11,N	7.01,T	6.8082	-0.397	-0.393	.	.	AC=50;AN=50;DP4=0,0,461,49;DP=707;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693054;VDB=0.688692	GT:DP:DV:PL	1/1:28:28:255,84,0	1/1:19:19:255,57,0	1/1:13:13:255,39,0	1/1:29:29:255,87,0	1/1:19:19:255,57,0	1/1:29:29:255,87,0	1/1:23:23:255,69,0	1/1:21:21:255,63,0	1/1:22:22:255,66,0	1/1:14:14:255,42,0	1/1:17:17:255,51,0	1/1:19:19:255,57,0	1/1:15:15:255,45,0	1/1:19:19:255,57,0	1/1:14:14:255,42,0	1/1:18:18:255,54,0	1/1:21:21:255,63,0	1/1:12:12:253,36,0	1/1:26:26:255,78,0	1/1:21:21:255,63,0	1/1:29:29:255,87,0	1/1:30:30:255,90,0	1/1:9:9:218,27,0	1/1:30:30:255,90,0	1/1:13:13:250,39,0	G	A	25	0	Bleeding disorder, platelet-type, 11, 614201 (3)	.	Myocardial infarction, age related, association(CM013737)	TCG-CCG|Ser219Pro|c.655T>C|p.S219P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11571236&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21232005&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18349091&dopt=Abstract)	11571236|21232005|18349091|20110505|19552682|19549989|18305222|12515812|11027634|10961879	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	COLLAGEN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_ECM_RECEPTOR_INTERACTION	.	.	.	PS1,PS3,BA1
L	20	3214819	rs3827075	T	G	225.16	PASS	SLC4A11	solute carrier family 4, sodium borate transporter, member 11	exonic	NM_001174089,NM_001174090,NM_032034	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R	ENST00000380056.3,ENST00000380059.3,ENST00000539553.2	CpG: 21	20p13	.	.	.	.	.	rs3827075	.	.	0.581395	0.5357	0.479832	0.4809	0.4365	0.5707	0.477028886677	0.515624675481	.	.	.	.	.	.	.	.	1.133	1.044	.	4.04	AC=29;AN=38;BQB=0.58968;DP4=338,215,955,520;DP=2960;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.500574;SF=0,1,2,4,7,10,11,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.693147;VDB=0.0134371	GT:DP:DV:PL	1/1:73:73:255,220,0	1/1:118:118:255,255,0	1/1:113:113:255,255,0	.	0/1:87:45:255,0,255	.	.	1/1:126:126:255,255,0	.	.	0/1:129:62:255,0,255	0/1:89:41:255,0,255	0/1:103:47:255,0,255	0/1:157:71:255,0,255	1/1:114:114:255,255,0	1/1:91:91:255,255,0	1/1:111:111:255,255,0	1/1:87:87:255,255,0	1/1:93:93:255,255,0	0/1:119:60:255,0,255	0/1:115:51:255,0,255	.	1/1:48:48:255,144,0	0/1:129:65:255,0,255	0/1:126:59:255,0,255	T	G	10	9	Corneal endothelial dystrophy 2, autosomal recessive, 217700 (3); Corneal endothelial dystrophy and perceptive deafness, 217400 (3); Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)	.	Corneal endothelial dystrophy 2(CX082312)	ATGCTT^157CGCCgcttcgccaGGGACCCTGA Ins: c|c.473_481delGCTTCGCCAinsC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18474783&dopt=Abstract)	18474783|22072594|18024964|17220209|16825429|16767101|15525507|12556388|11302728	REGULATION_OF_BIOLOGICAL_QUALITY;INORGANIC_ANION_TRANSPORT;ESTABLISHMENT_OF_LOCALIZATION;ANION_TRANSPORT;METAL_ION_TRANSPORT;CELLULAR_CATION_HOMEOSTASIS;TRANSPORT;HOMEOSTATIC_PROCESS;SODIUM_ION_TRANSPORT;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT	MEMBRANE_PART;MEMBRANE;BASOLATERAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	20	6759115	rs235768	A	T	226.76	PASS	BMP2	bone morphogenetic protein 2	exonic	NM_001200	.	missense SNV	BMP2:NM_001200:exon3:c.A570T:p.R190S	ENST00000378827.4	.	20p12.3	.	.	Score=804;Name=V$ER_Q6	.	.	rs235768	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000177127.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.80897	0.8284	0.766773	0.7293	0.6743	0.8176	0.63323143951	0.735576778846	0.096,T	0.871,P	0.978,D	6.37112e-07,P	0.000000,D	3.5,M	-0.45,T	16.3625	2.319	4.864	5.069319,25.3	5.72	AC=45;AN=50;BQB=1;DP4=40,29,333,171;DP=784;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.871116;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692562;VDB=0.823201	GT:DP:DV:PL	1/1:22:22:255,66,0	0/1:22:11:255,0,255	1/1:19:19:255,57,0	0/1:37:16:255,0,255	1/1:18:18:255,54,0	0/1:27:13:255,0,255	1/1:22:22:255,66,0	1/1:28:27:255,47,0	1/1:19:19:255,57,0	1/1:20:20:255,60,0	1/1:23:23:255,69,0	1/1:24:24:255,72,0	1/1:15:15:255,45,0	1/1:13:13:255,39,0	1/1:21:21:255,63,0	1/1:26:26:255,78,0	1/1:24:24:255,72,0	1/1:25:25:255,75,0	1/1:23:23:255,69,0	1/1:23:23:255,69,0	0/1:24:16:255,0,223	1/1:34:34:255,102,0	1/1:10:10:255,30,0	1/1:26:26:255,78,0	0/1:28:14:255,0,255	A	T	20	5	{HFE hemochromatosis, modifier of}, 235200 (3); Brachydactyly, type A2, 112600 (3)	.	Ossification of the posterior longitudinal ligament of the spine, predisposition to(CM1314426)	AGA-AGT|Arg190Ser|c.570A>T|p.R190S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23506588&dopt=Abstract)	23506588|25082703|21671386|21357617|19327734|18202659|17847004|17425602|16109715|15837799|14691541|14558086|12925636|12872164|12851349|12620973|11182081|10205054|9323126|7390514|3201241|2315314|2117991|2004778|1970330|1487246	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELL_CYCLE;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_GENE_SPECIFIC_TRANSCRIPTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;EPITHELIAL_TO_MESENCHYMAL_TRANSITION;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;HEART_DEVELOPMENT;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE	.	SPECIFIC_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_BMPPATHWAY	BIOCARTA_ALK_PATHWAY	REACTOME_SIGNALING_BY_BMP	PS1,PS3,BA1
L	20	10633237	rs1131695	G	A	213.64	PASS	JAG1	jagged 1	exonic	NM_000214	.	synonymous SNV	JAG1:NM_000214:exon6:c.C765T:p.Y255Y	ENST00000423891.2,ENST00000254958.5	.	20p12.2	.	.	.	.	.	rs1131695	CLINSIG=Benign\x2cLikely benign|Benign;CLNDBN=not_specified\x2cnot_provided|not_specified;CLNACC=RCV000150845.1,RCV000132569.1|RCV000199026.1;CLNDSDB=MedGen\x2cMedGen|MedGen;CLNDSDBID=CN169374\x2cCN221809|CN169374	.	0.392027	0.3859	0.423323	0.4247	0.4541	0.3310	0.282542062787	0.336538670673	.	.	.	.	.	.	.	.	-2.338	-0.610	.	.	AC=17;AN=28;BQB=0.969233;DP4=124,61,164,90;DP=596;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.818276;SF=0,3,5,6,8,9,10,12,13,16,17,20,22,24;SGB=-0.688148;VDB=0.700368	GT:DP:DV:PL	0/1:35:15:255,0,255	.	.	0/1:27:11:255,0,255	.	0/1:47:17:255,0,255	0/1:22:9:208,0,255	.	1/1:21:21:255,63,0	0/1:30:20:255,0,219	0/1:39:19:255,0,255	.	1/1:31:31:255,93,0	0/1:54:26:255,0,255	.	.	0/1:34:21:255,0,255	0/1:23:10:255,0,255	.	.	1/1:34:34:255,102,0	.	0/1:13:5:167,0,183	.	0/1:29:15:255,0,255	G	A	3	11	Alagille syndrome, 118450 (3); Tetralogy of Fallot, 187500 (3); ?Deafness, congenital heart defects, and posterior embryotoxon (3)	.	Alagille syndrome(CM993747) || Alagille syndrome(CM051546)	TAC-TAA|Tyr255Term|c.765C>A|p.Y255*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10220506&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21893051&dopt=Abstract) || TAC-TAG|Tyr255Term|c.765C>G|p.Y255*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14676605&dopt=Abstract)	10220506|21893051|14676605|19398721|19325125|18245384|17720887|16413496|15772854|15358557|12668592|12649809|12244555|12244553|12239725|12022040|11683410|11359464|11313761|11259677|11181574|11157803|11152664|11139239|11058898|10978356|10556292|10220506|10213047|10079256|9585603|9268641|9207788|9207787|7697721	.	.	.	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_TAP63PATHWAY	BIOCARTA_PTDINS_PATHWAY	REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_SIGNALING_BY_NOTCH2;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH3;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	PS1,PS3,BA1
L	20	10639222	rs1801138	G	A	222.75	PASS	JAG1	jagged 1	exonic	NM_000214	.	synonymous SNV	JAG1:NM_000214:exon4:c.C588T:p.C196C	ENST00000423891.2,ENST00000254958.5	.	20p12.2	.	.	Score=823;Name=V$GRE_C	.	.	rs1801138	CLINSIG=Benign|Likely benign;CLNDBN=not_specified|not_provided;CLNACC=RCV000035336.3|RCV000125427.4;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.222591	0.2192	0.181909	0.1040	0.1088	0.2425	0.177641732006	0.192307298077	.	.	.	.	.	.	.	.	0.320	5.810	.	.	AC=9;AN=16;BQB=0.784066;DP4=126,92,152,93;DP=644;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998948;SF=2,6,12,13,17,20,23,24;SGB=-0.693146;VDB=0.0604164	GT:DP:DV:PL	.	.	1/1:43:43:255,129,0	.	.	.	0/1:52:24:255,0,255	.	.	.	.	.	0/1:39:18:255,0,255	0/1:71:34:255,0,255	.	.	.	0/1:46:22:255,0,255	.	.	0/1:73:39:255,0,255	.	.	0/1:83:34:255,0,255	0/1:56:31:255,0,255	G	A	1	7	Alagille syndrome, 118450 (3); Tetralogy of Fallot, 187500 (3); ?Deafness, congenital heart defects, and posterior embryotoxon (3)	.	Alagille syndrome(CM061817)	TGC-TGA|Cys196Term|c.588C>A|p.C196*(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16575836&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	16575836|25525159|19398721|19325125|18245384|17720887|16413496|15772854|15358557|12668592|12649809|12244555|12244553|12239725|12022040|11683410|11359464|11313761|11259677|11181574|11157803|11152664|11139239|11058898|10978356|10556292|10220506|10213047|10079256|9585603|9268641|9207788|9207787|7697721	.	.	.	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_TAP63PATHWAY	BIOCARTA_PTDINS_PATHWAY	REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_SIGNALING_BY_NOTCH2;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH3;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	PS1,PS3,BA1
L	20	23028724	rs1042579	G	A	223.8	PASS	THBD	thrombomodulin	exonic	NM_000361	.	missense SNV	THBD:NM_000361:exon1:c.C1418T:p.A473V	ENST00000377103.2	CpG: 312	20p11.21	.	.	.	.	.	rs1042579	.	.	0.30897	0.3046	0.164537	0.1379	0.1997	0.2966	0.225114759571	0.284855661058	0.24,T	0.0,B	0.0,B	1,P	0.341366,N	1.14,L	-1.31,T	4.3108	-0.087	-0.150	.	.	AC=13;AN=20;BQB=0.997113;DP4=292,122,466,219;DP=1449;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.163172;SF=0,4,6,14,15,16,18,19,20,23;SGB=-0.693147;VDB=0.441286	GT:DP:DV:PL	1/1:87:87:255,255,0	.	.	.	0/1:106:49:255,0,255	.	1/1:111:111:255,255,0	.	.	.	.	.	.	.	0/1:125:54:255,0,255	0/1:80:49:255,0,255	0/1:108:52:255,0,255	.	0/1:85:40:255,0,255	0/1:124:61:255,0,255	1/1:106:106:255,255,0	.	.	0/1:167:76:255,0,255	.	G	A	3	7	Thrombophilia due to thrombomodulin defect, 614486 (3); {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3)	.	Thromboembolic disease, association with(CM971486)	GCC-GTC|Ala473Val|c.1418C>T|p.A473V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9157575&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23520161&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23332921&dopt=Abstract)	9157575|23520161|23332921|23332921|22036808|20628149|19625716|17848551|15574195|12579195|12139752|11986219|11552992|11245641|11078228|10627464|10460600|10195941|9843165|9364978|9236408|9157575|8969598|8661740|8244401|7811989|3001144|2827310|2822087|2819876|2559025	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_FRA_PATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_COMMON_PATHWAY;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	20	44639692	rs2274755	G	T	222	PASS	MMP9	matrix metallopeptidase 9	splicing	NM_004994	NM_004994:exon4:c.649+3G>T	.	.	ENST00000372330.3	CpG: 65	20q13.12	.	.	.	.	.	rs2274755	.	.	0.147841	0.1567	0.186102	0.1478	0.1583	0.1373	0.0987751108729	0.126202257212	.	.	.	.	.	.	.	.	2.553	4.083	1.989989,16.15	4.62	AC=8;AN=16;BQB=0.509156;DP4=139,144,134,170;DP=752;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.796053;SF=0,3,4,7,14,17,20,22;SGB=-0.693145;VDB=0.566969	GT:DP:DV:PL	0/1:81:40:255,0,255	.	.	0/1:91:45:255,0,255	0/1:84:37:255,0,255	.	.	0/1:79:46:255,0,255	.	.	.	.	.	.	0/1:80:39:255,0,255	.	.	0/1:58:31:255,0,255	.	.	0/1:75:44:255,0,255	.	0/1:39:22:255,0,255	.	.	G	T	0	8	Metaphyseal anadysplasia 2, 613073 (3)	.	Asthma, atopic, association with(CS062075)	IVS4 ds G-T +3|c.649+3G>T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16631427&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	16631427|25525159|24648384|21199898|20093460|20007864|19615667|18677407|18455130|18264108|18077379|17641224|16979597|16835221|16631427|15173025|15146242|12960961|12953271|12952836|12431981|12189240|12183632|12107265|12062105|11849317|11708786|11238675|11081634|11023497|10988146|10946906|10652271|10598806|10587514|10485917|10458779|10199873|9590175|9577095|8978762|8555503|7762981|1932376|1851724|1653238|1334098	SYSTEM_DEVELOPMENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MYELOID_CELL_DIFFERENTIATION;LEUKOCYTE_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;MYELOID_LEUKOCYTE_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ION_BINDING;COLLAGEN_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_CXCR4_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AP1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_FGF_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PS1,PS3,BA1
L	20	44640225	rs17576	A	G	225.6	PASS	MMP9	matrix metallopeptidase 9	exonic	NM_004994	.	missense SNV	MMP9:NM_004994:exon6:c.A836G:p.Q279R	ENST00000372330.3	.	20q13.12	.	.	.	.	.	rs17576	.	.	0.767442	0.7391	0.455471	0.3478	0.3920	0.7378	0.603369032159	0.675480978365	0.355,T	0.01,B	0.004,B	0.987938,P	0.302456,N	0.55,N	3.03,T	9.3516	1.778	2.312	2.049911,16.53	2.71	AC=40;AN=50;BQB=0.332673;DP4=233,91,666,232;DP=1667;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.232589;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.154205	GT:DP:DV:PL	1/1:42:42:255,126,0	0/1:34:18:255,0,255	1/1:30:30:255,90,0	0/1:48:21:255,0,255	0/1:40:18:255,0,255	0/1:108:43:255,0,255	1/1:34:34:255,102,0	0/1:60:34:255,0,255	1/1:45:45:255,135,0	0/1:38:17:255,0,255	1/1:42:42:255,126,0	0/1:37:16:255,0,255	1/1:34:34:255,102,0	1/1:49:49:255,148,0	1/1:48:48:255,144,0	1/1:35:35:255,105,0	1/1:36:36:255,108,0	1/1:32:32:255,96,0	1/1:28:28:255,84,0	0/1:38:17:255,0,255	1/1:43:43:255,129,0	1/1:95:95:255,255,0	1/1:35:35:255,105,0	0/1:110:48:255,0,255	0/1:81:38:255,0,255	A	G	15	10	Metaphyseal anadysplasia 2, 613073 (3)	.	Arterial stiffness, association with(CM062877)	CGG-CAG|Arg279Gln|c.836G>A|p.R279Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16709939&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21655354&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21844877&dopt=Abstract)	16709939|21655354|21844877|24648384|21199898|20093460|20007864|19615667|18677407|18455130|18264108|18077379|17641224|16979597|16835221|16631427|15173025|15146242|12960961|12953271|12952836|12431981|12189240|12183632|12107265|12062105|11849317|11708786|11238675|11081634|11023497|10988146|10946906|10652271|10598806|10587514|10485917|10458779|10199873|9590175|9577095|8978762|8555503|7762981|1932376|1851724|1653238|1334098	SYSTEM_DEVELOPMENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MYELOID_CELL_DIFFERENTIATION;LEUKOCYTE_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;MYELOID_LEUKOCYTE_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ION_BINDING;COLLAGEN_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_CXCR4_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AP1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_FGF_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PS1,PS3,BA1
L	20	44642406	rs2250889	G	C	226.08	PASS	MMP9	matrix metallopeptidase 9	exonic	NM_004994	.	missense SNV	MMP9:NM_004994:exon10:c.G1721C:p.R574P	ENST00000535913.1,ENST00000372330.3	CpG: 24	20q13.12	.	.	.	.	.	rs2250889	.	.	0.795681	0.7718	0.830272	0.9200	0.8839	0.7724	0.624808448698	0.704326769231	1.0,T	0.0,B	0.0,B	1,P	0.012547,N	-2.545,N	4.3,T	5.2922	0.634	0.810	1.808295,15.04	3.9	AC=42;AN=50;BQB=0.924466;DP4=88,78,457,441;DP=1430;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.117433;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.894825	GT:DP:DV:PL	1/1:43:43:255,129,0	0/1:38:21:255,0,255	1/1:43:43:255,129,0	0/1:40:20:255,0,255	0/1:43:21:255,0,255	0/1:69:35:255,0,255	1/1:51:51:255,154,0	1/1:42:42:255,126,0	1/1:39:39:255,117,0	0/1:30:14:255,0,255	1/1:53:53:255,160,0	0/1:34:16:255,0,255	1/1:47:47:255,141,0	1/1:48:48:255,144,0	1/1:47:47:255,141,0	1/1:23:23:255,69,0	1/1:35:35:255,105,0	1/1:32:32:255,96,0	1/1:37:37:255,111,0	0/1:44:26:255,0,255	1/1:30:30:255,90,0	1/1:64:64:255,193,0	1/1:36:36:255,108,0	1/1:61:61:255,184,0	0/1:35:14:255,0,255	G	C	17	8	Metaphyseal anadysplasia 2, 613073 (3)	.	Leukemia, risk, association with(CM064121)	CGG-CCG|Arg574Pro|c.1721G>C|p.R574P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16574953&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19633731&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18512818&dopt=Abstract)	16574953|19633731|18512818|24648384|21199898|20093460|20007864|19615667|18677407|18455130|18264108|18077379|17641224|16979597|16835221|16631427|15173025|15146242|12960961|12953271|12952836|12431981|12189240|12183632|12107265|12062105|11849317|11708786|11238675|11081634|11023497|10988146|10946906|10652271|10598806|10587514|10485917|10458779|10199873|9590175|9577095|8978762|8555503|7762981|1932376|1851724|1653238|1334098	SYSTEM_DEVELOPMENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MYELOID_CELL_DIFFERENTIATION;LEUKOCYTE_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;MYELOID_LEUKOCYTE_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ION_BINDING;COLLAGEN_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_CXCR4_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AP1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_FGF_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PS1,PS3,BA1
L	20	44643111	rs17577	G	A	221.38	PASS	MMP9	matrix metallopeptidase 9	exonic	NM_004994	.	missense SNV	MMP9:NM_004994:exon12:c.G2003A:p.R668Q	ENST00000535913.1,ENST00000372330.3	CpG: 48	20q13.12	.	.	.	.	.	rs17577	.	.	0.147841	0.1637	0.190895	0.1314	0.2158	0.1475	0.10566638683	0.127404173077	1.0,T	0.001,B	0.01,B	1,P	0.691883,N	0.33,N	4.15,T	17.5333	-2.524	0.148	1.050428,10.94	.	AC=8;AN=16;BQB=0.338874;DP4=148,51,108,70;DP=528;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983234;SF=0,3,4,7,14,17,20,22;SGB=-0.692717;VDB=0.00789917	GT:DP:DV:PL	0/1:41:23:255,0,255	.	.	0/1:55:27:255,0,255	0/1:44:19:255,0,255	.	.	0/1:63:31:255,0,255	.	.	.	.	.	.	0/1:60:29:255,0,255	.	.	0/1:36:15:255,0,255	.	.	0/1:49:23:255,0,255	.	0/1:29:11:250,0,255	.	.	G	A	0	8	Metaphyseal anadysplasia 2, 613073 (3)	.	Asthma, atopic, association with(CM061854)	CGA-CAA|Arg668Gln|c.2003G>A|p.R668Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16631427&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19064570&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23128247&dopt=Abstract)	16631427|19064570|23128247|24648384|21199898|20093460|20007864|19615667|18677407|18455130|18264108|18077379|17641224|16979597|16835221|16631427|15173025|15146242|12960961|12953271|12952836|12431981|12189240|12183632|12107265|12062105|11849317|11708786|11238675|11081634|11023497|10988146|10946906|10652271|10598806|10587514|10485917|10458779|10199873|9590175|9577095|8978762|8555503|7762981|1932376|1851724|1653238|1334098	SYSTEM_DEVELOPMENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;MYELOID_CELL_DIFFERENTIATION;LEUKOCYTE_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;MYELOID_LEUKOCYTE_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ION_BINDING;COLLAGEN_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_CXCR4_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AP1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_FGF_PATHWAY	.	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PS1,PS3,BA1
L	20	54961463	rs1047972	T	C	220.33	PASS	AURKA	aurora kinase A	exonic	NM_003600,NM_198433,NM_198434,NM_198435,NM_198436,NM_198437	.	missense SNV	AURKA:NM_003600:exon3:c.A169G:p.I57V,AURKA:NM_198435:exon3:c.A169G:p.I57V,AURKA:NM_198437:exon3:c.A169G:p.I57V,AURKA:NM_198434:exon4:c.A169G:p.I57V,AURKA:NM_198436:exon4:c.A169G:p.I57V,AURKA:NM_198433:exon5:c.A169G:p.I57V	ENST00000312783.6,ENST00000395915.3,ENST00000347343.2,ENST00000395914.1,ENST00000395913.3,ENST00000395909.4,ENST00000395907.1,ENST00000395911.1,ENST00000371356.2	.	20q13.2	.	.	.	.	.	rs1047972	.	.	0.86711	0.877	0.84984	0.8378	0.8482	0.8776	0.86711	0.787259915865	1.0,T	0.001,B	0.0,B	1,P	0.022873,N	.	-0.1,T	6.6292	-0.000	-0.463	.	.	AC=41;AN=48;BQB=0.741139;DP4=29,70,206,444;DP=918;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.265985;SF=0,1,2,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.491139	GT:DP:DV:PL	1/1:45:45:255,135,0	1/1:29:29:255,87,0	1/1:30:30:255,90,0	1/1:24:24:255,72,0	0/1:31:17:255,0,255	1/1:28:28:255,84,0	1/1:43:43:255,129,0	1/1:40:40:255,120,0	.	0/1:25:12:255,0,255	0/1:40:18:255,0,255	0/1:23:8:165,0,246	1/1:29:29:255,87,0	1/1:22:22:255,66,0	1/1:23:23:255,69,0	1/1:32:32:255,96,0	1/1:26:26:255,78,0	1/1:17:17:255,51,0	1/1:42:42:255,126,0	0/1:27:14:255,0,242	0/1:28:17:255,0,193	1/1:61:61:255,184,0	0/1:18:7:203,0,255	1/1:33:33:255,99,0	1/1:33:33:255,99,0	T	C	17	7	{Colon cancer, susceptibility to}, 114500 (3)	.	Oesophageal cancer, association with(CM051389)	GTT-ATT|Val57Ile|c.169G>A|p.V57I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15867347&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16412566&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22213102&dopt=Abstract)	15867347|16412566|22213102|19668197|18615013|18566290|18361916|17604723|16890155|14702041|14667408|13678582|12881723|12177045|10511710|9771714|9605851|9514916|9174055|9153231	REGULATION_OF_BIOLOGICAL_QUALITY;BIOPOLYMER_METABOLIC_PROCESS;M_PHASE;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;MITOSIS;CELL_CYCLE_GO_0007049;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;REGULATION_OF_PROTEIN_STABILITY;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;SPINDLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_OOCYTE_MEIOSIS	PID_AURORA_B_PATHWAY;PID_ILK_PATHWAY;PID_PLK1_PATHWAY;PID_AURORA_A_PATHWAY	BIOCARTA_RANMS_PATHWAY	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1	PS1,PS3,BA1
L	20	57478807	rs7121	C	T	226.09	PASS	GNAS	GNAS complex locus	exonic	NM_000516,NM_001077488,NM_001077489,NM_001309840,NM_001309861,NM_080425,NM_080426	.	synonymous SNV	GNAS:NM_001077489:exon4:c.C348T:p.I116I,GNAS:NM_080426:exon4:c.C351T:p.I117I,GNAS:NM_000516:exon5:c.C393T:p.I131I,GNAS:NM_001077488:exon5:c.C396T:p.I132I,GNAS:NM_001309840:exon5:c.C216T:p.I72I,GNAS:NM_001309861:exon5:c.C216T:p.I72I,GNAS:NM_080425:exon5:c.C2322T:p.I774I	ENST00000354359.7,ENST00000371102.4,ENST00000371095.3,ENST00000464624.2,ENST00000371075.3,ENST00000306090.10,ENST00000313949.7,ENST00000371085.3,ENST00000371100.4,ENST00000265620.7	.	20q13.32	.	.	.	.	.	rs7121	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000178784.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.709302	0.6716	0.644369	0.5794	0.5473	0.6302	0.549004542113	0.623797841346	.	.	.	8.98127e-07,P	.	.	.	21.0308	-2.651	-0.312	1.831467,15.17	.	AC=37;AN=44;BQB=0.310247;DP4=80,76,421,477;DP=1388;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.444637;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.0050084	GT:DP:DV:PL	.	1/1:45:45:255,135,0	0/1:47:26:255,0,255	1/1:52:52:255,157,0	1/1:41:41:255,123,0	0/1:70:37:255,0,255	1/1:56:56:255,169,0	1/1:62:62:255,187,0	0/1:40:20:255,0,255	0/1:42:20:255,0,255	0/1:60:36:255,0,255	1/1:45:45:255,135,0	1/1:42:42:255,126,0	0/1:46:27:255,0,255	1/1:41:41:255,123,0	0/1:31:14:255,0,255	.	1/1:49:49:255,148,0	1/1:39:39:255,117,0	.	1/1:40:40:255,120,0	1/1:79:79:255,238,0	1/1:30:30:255,90,0	1/1:52:52:255,157,0	1/1:45:45:255,135,0	C	T	15	7	Pseudohypoparathyroidism Ia, 103580 (3); McCune-Albright syndrome, somatic, mosaic 174800 (3); Pseudohypoparathyroidism Ic, 612462 (3); Osseous heteroplasia, progressive, 166350 (3); Pseudohypoparathyroidism Ib, 603233 (3); Acromegaly, somatic, 102200 (3); Pseudopseudohypoparathyroidism, 612463 (3); ACTH-independent macronodular adrenal hyperplasia, 219080 (3)	.	Essential hypertension, association with(CM023931)	ATT-ATC|Ile131Ile|c.393T>C|p.I131I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10406816&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17388805&dopt=Abstract)	10406816|17388805|24855271|21956331|21772288|21488135|19322176|18951142|18553568|18182455|17962410|17299070|16507630|16462745|15990197|15915160|15883378|15800843|15711092|15592469|15579796|15537666|15459318|15273687|15273686|15181091|15126527|14976161|14962976|14561710|14500986|12970318|12970307|12897124|12727968|12719376|12624854|12605446|12407707|12374764|12364467|12193786|12024005|12024004|11940672|11788646|11784876|11600516|11583302|11450852|11447126|11406605|11294659|11254676|11095461|11073544|11067869|11029463|10980525|10819326|10749992|10729789|10646121|10571700|10487696|10406816|10200251|9876352|9860993|9727013|9707596|9671744|9626141|9506752|9331332|9328353|9267696|9159128|8766942|8702665|8541861|8410501|8082833|8072545|7997272|7815417|7751320|7739708|7737262|4000278|3839937|3720010|3664638|3127824|3024154|3018748|2902634|2890163|2825031|2549426|2536957|2187341|2122458|2111318|2109828|1997210|1944469|1904395|1769666|1674732|1594625|1505964|1449489|219790	REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;SENSORY_PERCEPTION;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;NEUROLOGICAL_SYSTEM_PROCESS;REGULATION_OF_CATALYTIC_ACTIVITY;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ADENYLATE_CYCLASE_ACTIVATION;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;SYSTEM_PROCESS;CAMP_MEDIATED_SIGNALING	EXTRINSIC_TO_PLASMA_MEMBRANE;ORGANELLE_PART;GOLGI_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;GOLGI_APPARATUS_PART;ORGANELLE_MEMBRANE;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANS_GOLGI_NETWORK;PROTEIN_COMPLEX;EXTRINSIC_TO_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;IDENTICAL_PROTEIN_BINDING;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_DILATED_CARDIOMYOPATHY	.	BIOCARTA_CSK_PATHWAY;BIOCARTA_AGPCR_PATHWAY;BIOCARTA_CCR3_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_CFTR_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_MPR_PATHWAY;BIOCARTA_PLCE_PATHWAY;BIOCARTA_BARR_MAPK_PATHWAY;BIOCARTA_BARRESTIN_SRC_PATHWAY;BIOCARTA_GPCR_PATHWAY;BIOCARTA_BARRESTIN_PATHWAY;BIOCARTA_CREB_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_PROSTACYCLIN_SIGNALLING_THROUGH_PROSTACYCLIN_RECEPTOR;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_HEMOSTASIS	PS1,PS3,BA1
L	20	57599402	rs6070697	G	A	221.67	PASS	TUBB1	tubulin, beta 1 class VI	exonic	NM_030773	.	missense SNV	TUBB1:NM_030773:exon4:c.G920A:p.R307H	ENST00000217133.1	CpG: 16	20q13.32	.	.	.	.	.	rs6070697	.	.	0.0996678	0.1042	0.14397	0.1560	0.1738	0.1041	0.0888208633997	0.0913461677885	1.0,T	0.002,B	0.009,B	0.00111572,P	0.000445,N	-1.95,N	-1.43,T	9.4486	0.656	1.934	1.136301,11.41	.	AC=3;AN=6;BQB=0.721014;DP4=69,57,59,46;DP=304;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.270256;SF=6,11,20;SGB=-0.693147;VDB=0.217216	GT:DP:DV:PL	.	.	.	.	.	.	0/1:84:46:255,0,255	.	.	.	.	0/1:67:23:255,0,255	.	.	.	.	.	.	.	.	0/1:80:36:255,0,255	.	.	.	.	G	A	0	3	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)	.	Immune thrombocytopenia, treatment response(CM1314332)	CGT-CAT|Arg307His|c.920G>A|p.R307H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23157319&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24777453&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25529050&dopt=Abstract)	23157319|24777453|25529050|20191564|18849486|18466252|15956286|15315966|11369202|3782288	.	.	.	KEGG_GAP_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	REACTOME_PREFOLDIN_MEDIATED_TRANSFER_OF_SUBSTRATE_TO_CCT_TRIC;REACTOME_PROTEIN_FOLDING;REACTOME_FORMATION_OF_TUBULIN_FOLDING_INTERMEDIATES_BY_CCT_TRIC;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	PS1,PS3,BA1
L	21	15481365	rs7278737	G	T	208.83	PASS	LIPI	lipase, member I	exonic	NM_001302998,NM_001302999,NM_001303000,NM_001303001,NM_198996	.	missense SNV	LIPI:NM_001303001:exon8:c.C1043A:p.T348K,LIPI:NM_001302999:exon9:c.C1242A:p.D414E,LIPI:NM_001302998:exon10:c.C1332A:p.D444E,LIPI:NM_001303000:exon10:c.C1314A:p.D438E,LIPI:NM_198996:exon10:c.C1395A:p.D465E	ENST00000536861.1,ENST00000428809.1,ENST00000432621.1,ENST00000344577.2	.	21q11.2	.	.	.	.	.	rs7278737	.	.	0.503322	0.5099	0.51897	0.4989	0.5009	0.5125	0.403522183767	0.451922805288	1.0,T	0.0,B	0.0,B	1,P	0.000003,N	.	-2.02,D	3.8141	-0.228	0.194	.	.	AC=30;AN=38;BQB=0.742931;DP4=55,47,176,140;DP=586;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.950952;MQSB=1;RPB=0.950952;SF=0,1,2,3,4,7,8,9,10,11,12,13,14,15,17,20,21,23,24;SGB=-0.693097;VDB=0.00655586	GT:DP:DV:PL	1/1:30:30:255,90,0	1/1:23:23:255,69,0	0/1:11:5:164,0,163	1/1:28:28:255,84,0	1/1:22:22:255,66,0	.	.	1/1:24:24:255,72,0	1/1:26:26:255,78,0	1/1:25:25:255,75,0	0/1:27:9:253,0,255	0/1:24:14:255,0,238	1/1:6:6:221,18,0	0/1:23:14:255,0,255	1/1:16:16:255,48,0	1/1:23:23:255,69,0	.	0/1:17:3:78,0,255	.	.	1/1:20:20:255,60,0	0/1:27:9:246,0,255	.	0/1:22:9:255,0,255	0/1:24:10:255,0,255	G	T	11	8	{Hypertriglyceridemia, susceptibility to}, 145750 (3)	.	Plasma HDL cholesterol(CM035699)	GAC-GAA|Asp465Glu|c.1395C>A|p.D465E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12719377&dopt=Abstract)	12719377|12719377	.	.	.	.	.	.	.	PS1,PS3,BA1
L	21	34614255	rs1051393	T	G	200.6	PASS	IFNAR2	interferon (alpha, beta and omega) receptor 2	exonic	NM_000874,NM_001289125,NM_001289126,NM_001289128,NM_207584,NM_207585	.	missense SNV	IFNAR2:NM_000874:exon2:c.T28G:p.F10V,IFNAR2:NM_001289125:exon2:c.T28G:p.F10V,IFNAR2:NM_001289126:exon2:c.T28G:p.F10V,IFNAR2:NM_001289128:exon2:c.T28G:p.F10V,IFNAR2:NM_207584:exon2:c.T28G:p.F10V,IFNAR2:NM_207585:exon2:c.T28G:p.F10V	ENST00000342101.3,ENST00000382241.3,ENST00000382264.3,ENST00000420068.1,ENST00000413881.1,ENST00000342136.4,ENST00000404220.3	.	21q22.11	.	.	.	.	.	rs1051393	.	.	0.606312	0.5754	0.391773	0.2733	0.3785	0.5838	0.486982921899	0.540865112981	0.549,T	0.0,B	0.0,B	1,P	0.556450,N	-1.32,N	1.71,T	6.9718	-1.939	-2.080	.	.	AC=30;AN=40;BQB=0.322486;DP4=70,19,177,66;DP=462;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.826565;SF=0,1,2,3,4,5,8,9,10,11,12,13,14,15,16,17,18,20,22,24;SGB=-0.651104;VDB=0.480966	GT:DP:DV:PL	0/1:20:8:226,0,255	0/1:17:7:166,0,255	0/1:22:14:255,0,245	0/1:14:6:199,0,215	1/1:20:20:255,60,0	1/1:10:10:255,30,0	.	.	1/1:21:21:255,63,0	0/1:15:8:232,0,203	1/1:13:13:255,39,0	0/1:21:8:197,0,255	0/1:16:9:255,0,181	0/1:13:6:181,0,197	1/1:10:10:255,30,0	0/1:19:10:255,0,181	1/1:19:19:255,57,0	0/1:12:4:97,0,223	1/1:22:22:255,66,0	.	1/1:14:14:255,42,0	.	1/1:7:7:255,21,0	.	1/1:27:27:255,81,0	T	G	10	10	{Hepatitis B virus, susceptibility to}, 610424 (3); ?Immunodeficiency 45, 616669 (3)	.	Multiple sclerosis, susceptibility to, association with(CM057711)	TTC-GTC|Phe10Val|c.28T>G|p.F10V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15885318&dopt=Abstract)	15885318|26424569|16757563|11046044|8969169|8798579|8181059|7665574|7588638|7570186	RESPONSE_TO_VIRUS;MULTI_ORGANISM_PROCESS;JAK_STAT_CASCADE;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;RESPONSE_TO_BIOTIC_STIMULUS;PROTEIN_KINASE_CASCADE;RESPONSE_TO_OTHER_ORGANISM;INTRACELLULAR_SIGNALING_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;EXTRACELLULAR_REGION;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	PID_TELOMERASEPATHWAY;PID_CD8TCRDOWNSTREAMPATHWAY	BIOCARTA_RANKL_PATHWAY	REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_REGULATION_OF_IFNA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PS1,PS3,BA1
L	21	34640788	rs2834167	A	G	217.5	PASS	IL10RB	interleukin 10 receptor, beta	exonic	NM_000628	.	missense SNV	IL10RB:NM_000628:exon2:c.A139G:p.K47E	ENST00000290200.2,ENST00000433395.2	.	21q22.11	.	.	.	.	.	rs2834167	CLINSIG=other;CLNDBN=Hepatitis_b_virus\x2c_susceptibility_to;CLNACC=RCV000018431.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864880:610424	.	0.601329	0.5635	0.339457	0.2145	0.3189	0.5716	0.466309238897	0.520432858173	0.084,T	0.284,B	0.583,P	1,P	0.038805,N	1.795,L	-0.69,T	5.6759	2.021	0.790	3.622893,23.2	2.61	AC=29;AN=40;BQB=0.857779;DP4=61,60,181,107;DP=548;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.367183;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,20,22,23;SGB=-0.676189;VDB=0.256379	GT:DP:DV:PL	.	0/1:23:11:255,0,255	0/1:23:11:251,0,255	0/1:25:16:255,0,202	0/1:21:9:247,0,248	1/1:22:22:255,66,0	0/1:18:7:213,0,255	1/1:22:22:255,66,0	0/1:22:8:239,0,255	1/1:17:17:255,51,0	0/1:18:8:253,0,243	0/1:14:8:228,0,183	0/1:18:8:212,0,242	1/1:15:15:255,45,0	0/1:19:10:254,0,227	.	1/1:24:24:255,72,0	1/1:16:16:255,48,0	0/1:32:16:255,0,255	.	1/1:20:20:255,60,0	.	1/1:18:18:255,54,0	1/1:22:22:255,66,0	.	A	G	9	11	{Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)	.	Hepatitis B persistence, association with(CM066574)	GAA-AAA|Glu47Lys|c.139G>A|p.E47K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16757563&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24379584&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18588853&dopt=Abstract)	16757563|24379584|18588853|21519361|19890111|16757563|14764663|12469119|9463407|9312047|9047351|8318737|8314576	SIGNAL_TRANSDUCTION;DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;PLASMA_MEMBRANE	INTERLEUKIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;GROWTH_FACTOR_BINDING;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	.	BIOCARTA_IL10_PATHWAY	.	PS1,PS3,BA1
L	21	35821821	rs1805127	T	C	226.43	PASS	KCNE1	potassium channel, voltage gated subfamily E regulatory beta subunit 1	exonic	NM_000219,NM_001127668,NM_001127669,NM_001127670,NM_001270402,NM_001270403,NM_001270404,NM_001270405	.	missense SNV	KCNE1:NM_001127670:exon2:c.A112G:p.S38G,KCNE1:NM_001270404:exon2:c.A112G:p.S38G,KCNE1:NM_001127668:exon3:c.A112G:p.S38G,KCNE1:NM_001127669:exon3:c.A112G:p.S38G,KCNE1:NM_001270402:exon3:c.A112G:p.S38G,KCNE1:NM_001270403:exon3:c.A112G:p.S38G,KCNE1:NM_001270405:exon3:c.A112G:p.S38G,KCNE1:NM_000219:exon4:c.A112G:p.S38G	ENST00000416357.2,ENST00000337385.3,ENST00000399284.1,ENST00000399286.2,ENST00000432085.1,ENST00000399289.3	.	21q22.12	.	.	.	.	.	rs1805127	CLINSIG=Benign|other|Benign;CLNDBN=not_specified|not_provided|Hearing_loss\x2c_noise-induced\x2c_susceptibility_to;CLNACC=RCV000035351.3|RCV000119063.4|RCV000171811.2;CLNDSDB=MedGen|MedGen|MedGen:OMIM;CLNDSDBID=CN169374|CN221809|C2751629:613035	.	0.696013	0.7083	0.673922	0.6619	0.6477	0.7218	0.567380987749	0.632211221154	0.401,T	0.0,B	0.0,B	1,P	0.773538,N	-0.345,N	-3.09,D	5.8765	-0.024	-0.889	.	.	AC=40;AN=46;BQB=0.378661;DP4=150,120,996,829;DP=2884;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974593;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,20,21,22,23,24;SGB=-0.693147;VDB=0.0082214	GT:DP:DV:PL	0/1:83:49:255,0,255	1/1:68:68:255,205,0	0/1:92:48:255,0,255	1/1:106:106:255,255,0	1/1:99:99:255,255,0	1/1:118:118:255,255,0	0/1:81:43:255,0,255	1/1:101:101:255,255,0	1/1:80:80:255,241,0	1/1:68:68:255,205,0	0/1:93:42:255,0,255	1/1:75:75:255,226,0	1/1:74:74:255,223,0	1/1:109:109:255,255,0	1/1:58:58:255,175,0	1/1:83:82:255,213,0	0/1:80:40:255,0,255	.	1/1:82:82:255,247,0	.	1/1:90:90:255,255,0	1/1:160:160:255,255,0	1/1:38:38:255,114,0	0/1:116:54:255,0,255	1/1:141:141:255,255,0	T	C	17	6	Jervell and Lange-Nielsen syndrome 2, 612347 (3); Long QT syndrome 5, 613695 (3)	.	Noise-induced hearing loss, susceptibility to, association(CM062783)	AGT-GGT|Ser38Gly|c.112A>G|p.S38G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16823764&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24388587&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16039273&dopt=Abstract)	16823764|24388587|16039273|16922724|16823764|15840476|15207237|15051636|14760488|12670425|11799244|11438691|10973849|10400998|9790991|9693036|9445165|9354802|9354783|9230439|8900283|8900282|8899564|8432548|7828904|7622063|2730656	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;SENSORY_PERCEPTION;REGULATION_OF_HEART_CONTRACTION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ION_TRANSPORT;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;VACUOLE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;LYSOSOME;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;DELAYED_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;CHANNEL_REGULATOR_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	21	39086965	rs2070995	T	C	219.9	PASS	KCNJ6	potassium channel, inwardly rectifying subfamily J, member 6	exonic	NM_002240	.	synonymous SNV	KCNJ6:NM_002240:exon3:c.A495G:p.P165P	ENST00000609713.1,ENST00000288309.6	.	21q22.13	.	.	.	.	.	rs2070995	.	.	0.639535	0.6389	0.823283	0.8380	0.8067	0.6169	0.522970712098	0.573317391827	.	.	.	.	.	.	.	.	-5.079	-3.525	.	.	AC=27;AN=42;BQB=0.977114;DP4=144,139,244,192;DP=937;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.638766;SF=0,1,3,4,5,6,7,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.787178	GT:DP:DV:PL	0/1:30:11:255,0,255	1/1:27:27:255,81,0	.	0/1:53:27:255,0,255	0/1:37:18:255,0,255	1/1:39:38:255,57,0	1/1:41:41:255,123,0	0/1:41:22:255,0,255	.	.	.	1/1:30:30:255,90,0	0/1:41:14:242,0,255	1/1:23:23:255,69,0	0/1:23:14:255,0,187	0/1:39:19:255,0,255	1/1:32:32:255,96,0	0/1:30:14:255,0,255	0/1:31:12:247,0,255	0/1:35:13:255,0,255	0/1:32:20:255,0,255	0/1:48:19:255,0,255	0/1:19:9:197,0,233	0/1:38:20:255,0,255	0/1:30:13:255,0,255	T	C	6	15	Keppen-Lubinsky syndrome, 614098 (3)	.	Increased postoperative analgesic requirements, association with(CM0910285)	CCG-CCA|Pro165Pro|c.495G>A|p.P165P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19756153&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20220551&dopt=Abstract)	19756153|20220551|25620207|23739333|19610118|12567423|12493843|8735215|8663983|7926018|7796919|7729621|7598690|7550338|7550328|4128371	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INWARD_RECTIFIER_POTASSIUM_CHANNEL_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS	PS1,PS3,BA1
L	21	45709906	rs1800520	C	G	223.2	PASS	AIRE	autoimmune regulator	exonic	NM_000383	.	missense SNV	AIRE:NM_000383:exon7:c.C834G:p.S278R	ENST00000291582.5	.	21q22.3	.	.	.	.	.	rs1800520	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000116303.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.380399	0.3462	0.228235	0.1564	0.1579	0.3934	0.307810454824	0.348557822115	0.689,T	0.0,B	0.0,B	1,P	0.027957,N	-2.095,N	-3.47,D	3.2424	0.258	-0.271	.	.	AC=18;AN=30;BQB=0.97927;DP4=398,68,584,119;DP=1589;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961425;SF=0,1,2,6,7,8,9,12,14,15,16,19,20,23,24;SGB=-0.693079;VDB=0.306496	GT:DP:DV:PL	0/1:59:29:255,0,255	0/1:56:24:255,0,255	1/1:77:77:255,232,0	.	.	.	0/1:85:49:255,0,255	0/1:83:37:255,0,255	0/1:75:40:255,0,255	1/1:59:59:255,178,0	.	.	0/1:60:36:255,0,255	.	0/1:95:47:255,0,255	0/1:57:26:255,0,255	0/1:60:31:255,0,255	.	.	0/1:77:38:255,0,255	1/1:78:78:255,235,0	.	.	0/1:118:68:255,0,255	0/1:130:64:255,0,255	C	G	3	12	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)	.	Alopecia universalis, association with(CM025479)	AGC-AGG|Ser278Arg|c.834C>G|p.S278R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12542742&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19322061&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21505073&dopt=Abstract)	12542742|19322061|21505073|25217160|23471412|20085707|19807739|19758376|19744957|18687966|18414681|17991771|17687331|17539912|17118990|16965330|16732280|16114041|15696198|14734522|14557425|14517552|12612579|12471056|12376594|12050215|11854172|11836330|11600535|11524733|11524731|10946904|10720083|10677297|10049587|9931335|9931333|9921903|9888391|9856486|9837820|9717837|9398840|9398839|9267805|6031738	.	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS;KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	.	PS1,PS3,BA1
L	21	45712290	rs1800525	G	A	207.27	PASS	AIRE	autoimmune regulator	splicing	NM_000383	NM_000383:exon9:c.1095+6G>A	.	.	ENST00000355347.4,ENST00000291582.5,ENST00000329347.4	.	21q22.3	.	.	.	.	.	rs1800525	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116292.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.378738	0.3433	0.149561	0.0890	0.1321	0.4255	0.378738	0.344952326923	.	.	.	.	.	.	.	.	0.029	-0.152	.	.	AC=18;AN=30;BQB=0.989102;DP4=26,154,47,224;DP=521;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.787701;SF=0,1,2,6,7,8,9,12,14,15,16,19,20,23,24;SGB=-0.689466;VDB=0.63808	GT:DP:DV:PL	0/1:27:16:242,0,225	0/1:30:18:255,0,143	1/1:20:20:255,60,0	.	.	.	0/1:31:15:245,0,251	0/1:34:15:174,0,255	0/1:34:20:244,0,222	1/1:27:27:255,81,0	.	.	0/1:35:16:255,0,243	.	0/1:28:12:255,0,213	0/1:31:13:196,0,255	0/1:27:15:255,0,255	.	.	0/1:33:19:255,0,240	1/1:35:35:255,105,0	.	.	0/1:34:19:255,0,255	0/1:25:11:190,0,255	G	A	3	12	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)	.	Autoimmune polyglandular syndrome type 2(CS1412655)	IVS9 ds G-A +6|c.1095+6G>A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25402387&dopt=Abstract)	25402387|25217160|23471412|20085707|19807739|19758376|19744957|18687966|18414681|17991771|17687331|17539912|17118990|16965330|16732280|16114041|15696198|14734522|14557425|14517552|12612579|12471056|12376594|12050215|11854172|11836330|11600535|11524733|11524731|10946904|10720083|10677297|10049587|9931335|9931333|9921903|9888391|9856486|9837820|9717837|9398840|9398839|9267805|6031738	.	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS;KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	.	PS1,PS3,BA1
L	22	18901004	rs450046	C	T	227.52	PASS	PRODH	proline dehydrogenase (oxidase) 1	exonic	NM_001195226,NM_016335	.	missense SNV	PRODH:NM_001195226:exon13:c.G1238A:p.R413Q,PRODH:NM_016335:exon14:c.G1562A:p.R521Q	ENST00000357068.6,ENST00000334029.2,ENST00000420436.1	.	22q11.21	.	.	.	Score=0.954558;Name=chr22:20289157	.	rs450046	CLINSIG=Pathogenic|other|Pathogenic;CLNDBN=Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided;CLNACC=RCV000004222.5|RCV000004223.5|RCV000115065.1;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen:OMIM|MedGen;CLNDSDBID=C0268529:239500:419:61071003|C1833247:600850|CN221809	.	0.961794	0.9633	0.905551	0.9042	0.9171	0.9505	0.763399684533	0.86538446875	0.486,T	0.0,B	0.0,B	0.983534,P	0.001155,N	.	1.63,T	8.8381	0.750	2.471	3.411339,23.0	4.67	AC=48;AN=50;BQB=0.446736;DP4=26,20,626,455;DP=1627;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.253484;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.26003	GT:DP:DV:PL	1/1:43:43:255,129,0	1/1:37:37:255,111,0	1/1:53:53:255,160,0	1/1:37:37:255,111,0	1/1:26:26:255,78,0	1/1:65:65:255,196,0	1/1:35:35:255,105,0	1/1:37:37:255,111,0	1/1:47:47:255,141,0	1/1:28:28:255,84,0	1/1:44:44:255,132,0	1/1:43:43:255,129,0	1/1:43:43:255,126,0	1/1:61:61:255,184,0	0/1:47:27:255,0,255	1/1:31:31:255,93,0	1/1:44:44:255,132,0	1/1:28:28:255,84,0	1/1:37:37:255,111,0	0/1:49:23:255,0,255	1/1:47:47:255,141,0	1/1:70:70:255,211,0	1/1:25:25:255,75,0	1/1:66:66:255,199,0	1/1:84:84:255,253,0	C	T	23	2	Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3)	.	Increased enzyme activity(CM057943)	CAG-CGG|Gln521Arg|c.1562A>G|p.Q521R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15662599&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23462603&dopt=Abstract)	15662599|23462603|17412540|15662599|12217952|11959925|11891283|11510941|11170887|10192398|9385373|8803768	.	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	22	18912678	rs4819756	A	G	228	PASS	PRODH	proline dehydrogenase (oxidase) 1	exonic	NM_001195226,NM_016335	.	missense SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon5:c.T553C:p.W185R	ENST00000357068.6,ENST00000334029.2,ENST00000420436.1	.	22q11.21	.	.	.	.	.	rs4819756	.	.	0.973422	0.9712	0.78095	0.6739	0.6417	0.9683	0.766462710567	0.878605882212	0.55,T	0.0,B	0.0,B	0.999439,P	0.094139,N	.	-0.92,T	6.4381	0.250	3.683	.	2.88	AC=50;AN=50;BQB=1;DP4=1,0,1050,871;DP=2602;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00873691	GT:DP:DV:PL	1/1:76:75:255,197,0	1/1:62:62:255,187,0	1/1:95:95:255,255,0	1/1:75:75:255,223,0	1/1:75:75:255,226,0	1/1:97:97:255,255,0	1/1:64:64:255,193,0	1/1:88:88:255,255,0	1/1:54:54:255,163,0	1/1:68:68:255,205,0	1/1:70:70:255,211,0	1/1:61:61:255,184,0	1/1:71:71:255,214,0	1/1:108:108:255,255,0	1/1:78:78:255,235,0	1/1:60:60:255,181,0	1/1:71:71:255,214,0	1/1:52:52:255,157,0	1/1:70:70:255,211,0	1/1:92:92:255,255,0	1/1:83:83:255,250,0	1/1:118:118:255,255,0	1/1:34:34:255,102,0	1/1:96:96:255,255,0	1/1:104:104:255,255,0	A	G	25	0	Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3)	.	Hyperprolinaemia, association with(CM057554)	CGG-TGG|Arg185Trp|c.553C>T|p.R185W(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15662599&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24842239&dopt=Abstract)	15662599|24842239|17412540|15662599|12217952|11959925|11891283|11510941|11170887|10192398|9385373|8803768	.	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	22	18923745	rs2008720	G	T	162.01	PASS	PRODH	proline dehydrogenase (oxidase) 1	exonic	NM_016335	.	missense SNV	PRODH:NM_016335:exon2:c.C56A:p.P19Q	ENST00000357068.6,ENST00000334029.2,ENST00000420436.1	CpG: 55	22q11.21	.	.	.	Score=0.96125;Name=chr22:20287209	.	rs2008720	.	.	0.848837	0.8423	0.553315	.	0.6653	0.8864	0.473966163859	0.759615245192	.	.	.	1,P	0.137421,U	.	2.31,T	8.2534	-0.043	-0.431	.	.	AC=20;AN=22;BQB=0.824834;DP4=1,7,31,31;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.916482;MQSB=0.924584;RPB=0.641538;SF=1,4,5,10,13,14,16,18,19,20,24;SGB=-0.662043;VDB=0.061137	GT:DP:DV:PL	.	1/1:9:9:255,27,0	.	.	1/1:7:7:201,21,0	1/1:5:5:200,15,0	.	.	.	.	1/1:6:6:244,18,0	.	.	1/1:8:8:255,24,0	1/1:6:6:211,18,0	.	1/1:9:9:255,27,0	.	0/1:10:3:98,0,179	1/1:3:3:117,9,0	0/1:3:2:81,0,28	.	.	.	1/1:4:4:177,12,0	G	T	9	2	Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility to, 4}, 600850 (3)	.	Hyperprolinaemia, association with(CM057552)	CAG-CCG|Gln19Pro|c.56A>C|p.Q19P(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15662599&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24842239&dopt=Abstract)	15662599|24842239|17412540|15662599|12217952|11959925|11891283|11510941|11170887|10192398|9385373|8803768	.	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PS1,PS3,BA1
L	22	19950235	rs4633	C	T	222.67	PASS	COMT	catechol-O-methyltransferase	exonic	NM_000754,NM_001135161,NM_001135162,NM_007310	.	synonymous SNV	COMT:NM_007310:exon1:c.C36T:p.H12H,COMT:NM_000754:exon3:c.C186T:p.H62H,COMT:NM_001135161:exon3:c.C186T:p.H62H,COMT:NM_001135162:exon3:c.C186T:p.H62H	ENST00000406520.3,ENST00000449653.1,ENST00000403184.1,ENST00000403710.1,ENST00000407537.1,ENST00000361682.6	.	22q11.21	.	.	Score=699;Name=V$PPARG_02	.	.	rs4633	.	.	0.275748	0.2698	0.371605	0.4601	0.4680	0.2730	0.21669231853	0.258413685096	.	.	.	.	.	.	.	.	-2.528	-2.561	1.404167,12.81	.	AC=10;AN=18;BQB=0.901637;DP4=259,110,244,96;DP=995;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.855596;SF=1,2,6,11,16,20,21,23,24;SGB=-0.693132;VDB=0.601915	GT:DP:DV:PL	.	0/1:63:34:255,0,255	0/1:73:27:255,0,255	.	.	.	0/1:64:28:255,0,255	.	.	.	.	1/1:49:49:255,148,0	.	.	.	.	0/1:70:27:255,0,255	.	.	.	0/1:79:33:255,0,255	0/1:111:46:255,0,255	.	0/1:101:50:255,0,255	0/1:99:46:255,0,255	C	T	1	8	{Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder, susceptibility to}, 167870 (3)	.	Increased translation rate(CM119046)	CAC-CAT|His62His|c.186C>T|p.H62H(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21486747&dopt=Abstract)	21486747|21280081|19617637|18469803|17504906|17185601|16542388|16513880|16275815|16135635|16130008|16118784|16043133|16027741|15935994|15824744|15821730|15652872|15645182|15537663|15457404|15169701|15098000|14966473|14681918|12842306|12802784|12716966|12611827|12595695|12436243|12402217|12359690|12192614|11925305|11772685|11502905|11381111|11317231|11171904|10459407|10395222|10331110|9707588|9114031|9110364|8941353|8886163|8807664|8401507|7585135|7304673|7296933|7296929|7095819|6951409|6594929|6507499|6216990|4271829|3465676|2939719|1707278|1572656|1360084|1308357|848488|758679	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION;SOLUBLE_FRACTION	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_TYROSINE_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	22	19951207	rs4818	C	G	224.14	PASS	COMT	catechol-O-methyltransferase	exonic	NM_000754,NM_001135161,NM_001135162,NM_007310	.	synonymous SNV	COMT:NM_007310:exon2:c.C258G:p.L86L,COMT:NM_000754:exon4:c.C408G:p.L136L,COMT:NM_001135161:exon4:c.C408G:p.L136L,COMT:NM_001135162:exon4:c.C408G:p.L136L	ENST00000406520.3,ENST00000449653.1,ENST00000403184.1,ENST00000493893.1,ENST00000403710.1,ENST00000407537.1,ENST00000361682.6	.	22q11.21	.	.	.	.	.	rs4818	.	.	0.32392	0.3413	0.296925	0.3275	0.3392	0.3246	0.259570842266	0.283653689904	.	.	.	.	.	.	.	.	0.012	0.097	.	.	AC=19;AN=28;BQB=0.906646;DP4=270,112,374,161;DP=1298;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.220346;SF=0,1,5,7,8,9,10,13,14,16,17,20,21,22;SGB=-0.69168;VDB=0.153313	GT:DP:DV:PL	0/1:48:19:255,0,255	0/1:64:32:255,0,255	.	.	.	1/1:85:85:255,253,0	.	0/1:81:32:255,0,255	1/1:53:53:255,160,0	1/1:38:38:255,114,0	0/1:75:32:255,0,255	.	.	0/1:89:37:255,0,255	1/1:54:54:255,163,0	.	0/1:63:28:255,0,255	0/1:58:28:255,0,255	.	.	0/1:71:25:255,0,255	0/1:104:38:255,0,255	1/1:34:34:255,102,0	.	.	C	G	5	9	{Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder, susceptibility to}, 167870 (3)	.	Schizoaffective disorder, association with(CM970391)	CTC-CTG|Leu136Leu|c.408C>G|p.L136L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9323320&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19641441&dopt=Abstract)	9323320|19641441|21280081|19617637|18469803|17504906|17185601|16542388|16513880|16275815|16135635|16130008|16118784|16043133|16027741|15935994|15824744|15821730|15652872|15645182|15537663|15457404|15169701|15098000|14966473|14681918|12842306|12802784|12716966|12611827|12595695|12436243|12402217|12359690|12192614|11925305|11772685|11502905|11381111|11317231|11171904|10459407|10395222|10331110|9707588|9114031|9110364|8941353|8886163|8807664|8401507|7585135|7304673|7296933|7296929|7095819|6951409|6594929|6507499|6216990|4271829|3465676|2939719|1707278|1572656|1360084|1308357|848488|758679	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION;SOLUBLE_FRACTION	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_TYROSINE_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	22	19951271	rs4680	G	A	222.55	PASS	COMT	catechol-O-methyltransferase	exonic	NM_000754,NM_001135161,NM_001135162,NM_007310	.	missense SNV	COMT:NM_007310:exon2:c.G322A:p.V108M,COMT:NM_000754:exon4:c.G472A:p.V158M,COMT:NM_001135161:exon4:c.G472A:p.V158M,COMT:NM_001135162:exon4:c.G472A:p.V158M	ENST00000406520.3,ENST00000449653.1,ENST00000403184.1,ENST00000493893.1,ENST00000403710.1,ENST00000407537.1,ENST00000361682.6	.	22q11.21	.	.	.	.	.	rs4680	CLINSIG=Benign;CLNDBN=CATECHOL-O-METHYLTRANSFERASE_POLYMORPHISM;CLNACC=RCV000019156.3;CLNDSDB=.;CLNDSDBID=.	Blood metabolite levels	0.289037	0.2798	0.369209	0.4515	0.4727	0.2849	0.215926653905	0.269231014423	0.075,T	0.072,B	0.608,P	0.999928,P	0.138117,N	2.02,M	-0.71,T	6.5527	0.033	-0.131	1.130859,11.38	.	AC=12;AN=22;BQB=0.326671;DP4=196,145,274,199;DP=1113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.927819;SF=1,2,6,11,13,16,18,19,20,21,23;SGB=-0.69312;VDB=0.18618	GT:DP:DV:PL	.	0/1:65:32:255,0,255	1/1:71:71:255,214,0	.	.	.	0/1:78:31:255,0,255	.	.	.	.	0/1:65:30:255,0,255	.	0/1:87:49:255,0,255	.	.	0/1:57:31:255,0,255	.	0/1:62:30:255,0,255	0/1:75:46:255,0,255	0/1:75:49:255,0,255	0/1:85:54:255,0,255	.	0/1:94:50:255,0,255	.	G	A	1	10	{Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder, susceptibility to}, 167870 (3)	.	Bipolar affective disorder, association with(CM960420)	GTG-ATG|Val158Met|c.472G>A|p.V158M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8886163&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16582043&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16837108&dopt=Abstract)	8886163|16582043|16837108|21280081|19617637|18469803|17504906|17185601|16542388|16513880|16275815|16135635|16130008|16118784|16043133|16027741|15935994|15824744|15821730|15652872|15645182|15537663|15457404|15169701|15098000|14966473|14681918|12842306|12802784|12716966|12611827|12595695|12436243|12402217|12359690|12192614|11925305|11772685|11502905|11381111|11317231|11171904|10459407|10395222|10331110|9707588|9114031|9110364|8941353|8886163|8807664|8401507|7585135|7304673|7296933|7296929|7095819|6951409|6594929|6507499|6216990|4271829|3465676|2939719|1707278|1572656|1360084|1308357|848488|758679	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION;SOLUBLE_FRACTION	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_TYROSINE_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_PHASE_II_CONJUGATION	PS1,PS3,BA1
L	22	21235389	rs116892729	A	G	222	PASS	SNAP29	synaptosomal-associated protein, 29kDa	exonic	NM_004782	.	missense SNV	SNAP29:NM_004782:exon3:c.A487G:p.S163G	ENST00000215730.7	.	22q11.21	.	.	Score=772;Name=V$AHRARNT_02	.	.	rs116892729	.	.	0.0714286	0.0625	0.0139776	0.0046	0.0072	0.0565	0.0497703041348	0.0564904040865	0.009,D	0.527,P	0.783,P	0.999806,D	0.000004,D	2.93,M	.	14.1507	2.018	7.192	4.169906,23.8	4.79	AC=1;AN=2;BQB=0.694831;DP4=14,6,11,6;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.694831;SF=20;SGB=-0.690438;VDB=0.388246	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	.	A	G	0	1	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)	.	Cryptorchidism and hypospadia(CM099636) || CEDNIK syndrome(CI111819)	AGC-GGC|Ser163Gly|c.487A>G|p.S163G(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19350501&dopt=Abstract) || TACCAG^162GCCAaGCCACCCAAA|c.487dupA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21073448&dopt=Abstract)	19350501|21073448|21073448|15968592|11444821|11423532|9852078	ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ESTABLISHMENT_OF_ORGANELLE_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_VESICLE_LOCALIZATION;TRANSPORT;SECRETION;VESICLE_LOCALIZATION;VESICLE_MEDIATED_TRANSPORT;EXOCYTOSIS;CELLULAR_LOCALIZATION;ORGANELLE_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;MEMBRANE_FUSION	MEMBRANE;PLASMA_MEMBRANE	.	KEGG_SNARE_INTERACTIONS_IN_VESICULAR_TRANSPORT	.	.	.	PS1,PS3,BA1
L	22	23627369	rs140504	A	G	192.3	PASS	BCR	breakpoint cluster region	exonic	NM_004327,NM_021574	.	missense SNV	BCR:NM_004327:exon10:c.A2387G:p.N796S,BCR:NM_021574:exon10:c.A2387G:p.N796S	ENST00000359540.3,ENST00000305877.8	.	22q11.23	.	.	.	.	.	rs140504	.	.	0.531561	0.5377	0.79373	0.8774	0.8186	0.5378	0.426493042879	0.466345771635	1.0,T	0.003,B	0.002,B	0.995957,P	0.000136,N	-0.975,N	1.85,T	8.9564	-0.032	0.354	.	.	AC=29;AN=40;BQB=0.727471;DP4=25,100,54,242;DP=501;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.659954;SF=0,2,3,4,5,6,7,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.497855	GT:DP:DV:PL	0/1:20:9:173,0,171	.	1/1:24:24:255,72,0	0/1:24:8:201,0,255	1/1:20:20:255,60,0	1/1:32:32:255,96,0	0/1:22:10:197,0,199	1/1:20:20:255,60,0	.	.	.	0/1:19:9:214,0,255	0/1:21:6:132,0,255	1/1:18:18:255,54,0	1/1:17:17:255,51,0	1/1:20:20:255,60,0	0/1:16:7:167,0,206	.	1/1:19:19:249,57,0	0/1:28:13:223,0,255	0/1:19:9:219,0,212	0/1:35:20:245,0,219	0/1:13:5:139,0,199	1/1:19:19:255,57,0	0/1:15:11:255,0,76	A	G	9	11	Leukemia, chronic myeloid, somatic, 608232 (3); Leukemia, acute lymphocytic, somatic, 613065 (3)	.	Bipolar disorder, association with(CM057927)	AAT-AGT|Asn796Ser|c.2387A>G|p.N796S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15866548&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17822820&dopt=Abstract)	15866548|17822820|21593872|21248843|19169242|18772113|18408710|14534339|14427847|12654249|12393533|12181416|12114534|12023981|11986250|11870247|11753385|11739186|11423618|11289094|11287980|11287973|11287972|11027300|10952298|10615128|10461204|9310467|8348145|8204872|8204871|8183938|7894478|7889565|7723413|7723412|7665185|7012623|6997180|6960256|6934005|6932994|6930307|6584200|6574316|6572735|6467987|6402307|6319012|6289313|6147726|4126434|3864009|3857461|3540951|3513189|3461479|3299055|3267213|3118359|3107980|3101769|3023859|2989703|2989692|2875753|2833755|2820585|2595371|2406902|2237408|2179728|1975791|1903516|1657398|1406953|1067222|730541	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GTPASE_ACTIVATOR_ACTIVITY	KEGG_PATHWAYS_IN_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA	PID_RHOA_REG_PATHWAY;PID_RAC1_REG_PATHWAY	BIOCARTA_GLEEVEC_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_FGFR1_FUSION_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS	PS1,PS3,BA1
L	22	26159289	rs133885	G	A	227.22	PASS	MYO18B	myosin XVIIIB	exonic	NM_032608	.	missense SNV	MYO18B:NM_032608:exon3:c.G131A:p.G44E	ENST00000335473.7,ENST00000536101.1,ENST00000407587.2	.	22q12.1	.	.	.	.	.	rs133885	.	Mathematical ability in children with dyslexia	0.820598	0.8185	0.701677	0.5709	0.5433	0.8217	0.660030477795	0.735576786058	1.0,T	0.0,B	0.0,B	0.998165,P	0.001076,N	-2.125,N	-1.38,T	8.8503	0.892	3.620	1.100454,11.22	5.09	AC=43;AN=46;BQB=1;DP4=41,18,527,308;DP=1264;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,19,20,21,22,23,24;SGB=-0.693079;VDB=0.00332991	GT:DP:DV:PL	1/1:29:29:255,87,0	1/1:30:30:255,90,0	1/1:32:32:255,96,0	1/1:42:42:255,126,0	1/1:44:43:255,95,0	1/1:52:52:255,157,0	1/1:33:33:255,99,0	1/1:48:48:255,144,0	1/1:38:38:255,114,0	0/1:34:15:255,0,255	1/1:45:45:255,135,0	1/1:29:29:255,87,0	1/1:38:38:255,114,0	0/1:47:27:255,0,255	.	1/1:34:34:255,102,0	1/1:52:52:255,157,0	1/1:29:29:255,87,0	.	1/1:35:35:255,105,0	0/1:41:22:255,0,255	1/1:50:50:255,151,0	1/1:21:21:255,63,0	1/1:39:39:255,117,0	1/1:52:52:255,157,0	G	A	20	3	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)	23423138(8E-10)	Colorectal cancer, increased risk, association with(CM065332)	GGG-GAG|Gly44Glu|c.131G>A|p.G44E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17000706&dopt=Abstract)	17000706|25748484|18761673|12209013	.	ORGANELLE_PART;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MYOSIN_COMPLEX;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	.	.	.	.	PS1,PS3,BA1
L	22	29885861	rs165923	T	C	219.49	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	synonymous SNV	NEFH:NM_021076:exon4:c.T2232C:p.A744A	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	rs165923	.	.	0.790698	0.7917	0.818291	0.8003	0.8060	0.8192	0.625574422665	0.706731137019	.	.	.	.	.	.	.	.	0.114	-2.191	.	2.47	AC=45;AN=50;BQB=0.950522;DP4=275,95,1561,603;DP=3673;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.964912;MQSB=0.703832;RPB=0.709303;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00202922	GT:DP:DV:PL	1/1:111:111:255,255,0	1/1:62:62:255,184,0	0/1:119:49:255,0,255	1/1:143:143:255,255,0	1/1:134:134:255,255,0	1/1:161:161:255,255,0	0/1:127:60:255,0,255	1/1:136:136:255,255,0	1/1:59:59:255,178,0	1/1:91:91:255,255,0	1/1:33:33:255,96,0	0/1:131:57:255,0,255	1/1:17:17:255,51,0	1/1:115:115:255,255,0	1/1:128:128:255,255,0	1/1:125:125:255,255,0	1/1:26:26:255,75,0	1/1:101:101:255,255,0	1/1:121:121:255,255,0	0/1:91:13:76,0,255	1/1:72:72:255,217,0	1/1:196:196:255,255,0	1/1:47:47:255,132,0	0/1:157:76:255,0,255	1/1:31:31:255,90,0	T	C	20	5	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	Amyotrophic lateral sclerosis(CD991813)	GAAGGAA^743GAAgctaagtccccagagaagGCCAAGTCCC|c.2232_2249del18(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9931323&dopt=Abstract)	9931323|9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PS1,PS3,BA1
L	22	32875190	rs11107	G	A	218	PASS	FBXO7	F-box protein 7	exonic	NM_001033024,NM_001257990,NM_012179	.	missense SNV	FBXO7:NM_001033024:exon2:c.G108A:p.M36I,FBXO7:NM_001257990:exon2:c.G3A:p.M1I,FBXO7:NM_012179:exon2:c.G345A:p.M115I	ENST00000382058.3,ENST00000397426.1,ENST00000465418.1,ENST00000266087.7	.	22q12.3	.	.	.	.	.	rs11107	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000175837.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.696013	0.6915	0.48742	0.3723	0.4400	0.6908	0.539816099541	0.612980512019	0.223,T	0.0,B	0.0,B	5.4613e-25,P	0.043074,N	-2.045,N	1.27,T	0.4433	-0.629	-0.024	.	.	AC=29;AN=46;BQB=0.322081;DP4=165,140,309,216;DP=1097;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.726331;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.690438;VDB=0.0867109	GT:DP:DV:PL	.	0/1:28:17:255,0,255	1/1:30:30:255,90,0	1/1:40:40:255,120,0	0/1:37:15:255,0,255	1/1:40:40:255,120,0	0/1:36:24:255,0,253	0/1:42:20:255,0,255	1/1:48:48:255,144,0	1/1:37:37:255,111,0	0/1:46:21:255,0,255	0/1:47:24:255,0,255	0/1:26:15:255,0,236	0/1:35:11:255,0,255	0/1:28:7:170,0,255	0/1:39:20:255,0,255	0/1:38:23:255,0,255	0/1:29:17:255,0,255	0/1:36:19:255,0,255	0/1:34:18:255,0,255	0/1:25:9:215,0,255	0/1:38:23:255,0,255	1/1:18:18:255,54,0	.	0/1:53:29:255,0,255	G	A	6	17	Parkinson disease 15, autosomal recessive, 260300 (3)	.	Mean cell haemoglobin, association with(CM1212336)	ATG-ATA|Met115Ile|c.345G>A|p.M115I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23222517&dopt=Abstract)	23222517|19038853|18513678|15520277|10945468|10531037|10531035	REGULATION_OF_BIOLOGICAL_QUALITY;BIOPOLYMER_CATABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;CELLULAR_PROTEIN_CATABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;PROTEIN_CATABOLIC_PROCESS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CATABOLIC_PROCESS;REGULATION_OF_PROTEIN_STABILITY	UBIQUITIN_LIGASE_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	ACID_AMINO_ACID_LIGASE_ACTIVITY;LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY;SMALL_PROTEIN_CONJUGATING_ENZYME_ACTIVITY;SMALL_CONJUGATING_PROTEIN_LIGASE_ACTIVITY;UBIQUITIN_PROTEIN_LIGASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	36661330	rs2239785	G	A	224.32	PASS	APOL1	apolipoprotein L, 1	exonic	NM_001136540,NM_001136541,NM_003661,NM_145343	.	missense SNV	APOL1:NM_001136541:exon5:c.G394A:p.E132K,APOL1:NM_001136540:exon6:c.G448A:p.E150K,APOL1:NM_003661:exon6:c.G448A:p.E150K,APOL1:NM_145343:exon7:c.G496A:p.E166K	ENST00000397279.4,ENST00000319136.4,ENST00000422706.1,ENST00000397278.3,ENST00000426053.1,ENST00000347595.7,ENST00000440669.2	.	22q12.3	.	.	.	Score=0.909256;Name=chr22:36620662	.	rs2239785	.	Glomerulosclerosis	0.810631	0.7956	0.678115	0.6529	0.7800	0.8330	0.65160785758	0.737980579327	0.268,T	0.86,P	0.986,D	1,P	0.015009,N	1.06,L	3.9,T	3.8103	-0.146	-0.987	2.335376,18.40	.	AC=41;AN=50;BQB=0.949869;DP4=213,37,759,170;DP=1536;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.969644;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692976;VDB=0.786957	GT:DP:DV:PL	0/1:48:26:255,0,255	1/1:36:36:255,108,0	1/1:40:40:255,120,0	0/1:54:27:255,0,255	0/1:50:28:255,0,255	1/1:65:65:255,196,0	1/1:36:36:255,108,0	1/1:51:51:255,154,0	0/1:57:26:255,0,255	0/1:38:14:219,0,255	0/1:50:19:255,0,255	1/1:44:44:255,132,0	0/1:47:23:255,0,255	1/1:53:53:255,160,0	0/1:56:16:255,0,255	1/1:56:56:255,169,0	1/1:37:37:255,111,0	1/1:32:32:255,96,0	1/1:49:49:255,148,0	0/1:53:24:255,0,255	1/1:52:52:255,157,0	1/1:61:61:255,184,0	1/1:23:23:255,69,0	1/1:52:52:255,157,0	1/1:39:39:255,117,0	G	A	16	9	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3); {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)	20668430(5E-13)	Increased triglyceride levels, in endogenous hypertriglyceridaemic subjects, association with(CM0911480)	GAG-AAG|Glu150Lys|c.448G>A|p.E150K(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19239905&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22239288&dopt=Abstract)	19239905|22239288|24206458|24005574|23768513|20647424|16020735|12621437|11944986|11930015|11374903|11290834|9325276	LIPID_METABOLIC_PROCESS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIPID_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	36661566	rs136175	G	A	225.84	PASS	APOL1	apolipoprotein L, 1	exonic	NM_001136540,NM_001136541,NM_003661,NM_145343	.	missense SNV	APOL1:NM_001136541:exon5:c.G630A:p.M210I,APOL1:NM_001136540:exon6:c.G684A:p.M228I,APOL1:NM_003661:exon6:c.G684A:p.M228I,APOL1:NM_145343:exon7:c.G732A:p.M244I	ENST00000397279.4,ENST00000319136.4,ENST00000422706.1,ENST00000397278.3,ENST00000426053.1,ENST00000347595.7,ENST00000440669.2	.	22q12.3	.	.	.	Score=0.909256;Name=chr22:36620662	.	rs136175	.	.	0.812292	0.7976	0.864217	0.8469	0.8364	0.8350	0.5957117366	0.711538177885	0.145,T	0.0,B	0.001,B	1,P	0.052579,N	-0.345,N	4.1,T	2.4026	0.151	0.250	.	.	AC=41;AN=50;BQB=0.962131;DP4=224,157,913,707;DP=2690;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.51446;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.0195822	GT:DP:DV:PL	0/1:89:38:255,0,255	1/1:69:69:255,208,0	1/1:73:73:255,220,0	0/1:86:41:255,0,255	0/1:95:43:255,0,255	1/1:125:125:255,255,0	1/1:72:72:255,217,0	1/1:82:82:255,247,0	0/1:85:45:255,0,255	0/1:60:26:255,0,255	0/1:86:41:255,0,255	1/1:69:69:255,208,0	0/1:67:38:255,0,255	1/1:109:109:255,255,0	0/1:87:46:255,0,255	1/1:77:77:255,232,0	1/1:74:74:255,223,0	1/1:62:62:255,187,0	1/1:66:66:255,199,0	0/1:79:35:255,0,255	1/1:68:68:255,205,0	1/1:93:93:255,255,0	1/1:41:41:255,123,0	1/1:98:98:255,255,0	1/1:89:89:255,255,0	G	A	16	9	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3); {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)	.	Increased triglyceride levels, in endogenous hypertriglyceridaemic subjects, association with(CM0911481)	ATG-ATA|Met228Ile|c.684G>A|p.M228I(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19239905&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22239288&dopt=Abstract)	19239905|22239288|24206458|24005574|23768513|20647424|16020735|12621437|11944986|11930015|11374903|11290834|9325276	LIPID_METABOLIC_PROCESS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIPID_TRANSPORTER_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	37462936	rs855791	A	G	218.72	PASS	TMPRSS6	transmembrane protease, serine 6	exonic	NM_001289000,NM_001289001,NM_153609	.	missense SNV	TMPRSS6:NM_001289001:exon17:c.T2180C:p.V727A,TMPRSS6:NM_153609:exon17:c.T2207C:p.V736A,TMPRSS6:NM_001289000:exon18:c.T2246C:p.V749A	ENST00000346753.3,ENST00000381792.2,ENST00000406856.1,ENST00000406725.1	.	22q12.3	.	.	.	.	.	rs855791	.	Mean corpuscular hemoglobin,Hematology traits,Glycated hemoglobin levels,Iron status biomarkers (transferrin levels),Mean corpuscular volume,Red blood cell traits,Iron status biomarkers (ferritin levels),Iron status biomarkers (iron levels),Iron status biomarkers,Iron status biomarkers (transferrin saturation),Hepcidin levels,Mean corpuscular hemoglobin concentration,Hemoglobin	0.450166	0.4345	0.604633	0.6586	0.5730	0.4498	0.33996951608	0.406249822115	0.912,T	0.0,B	0.0,B	0.999648,P	0.000412,N	-1.02,N	-2.27,D	9.4664	0.980	4.739	1.518053,13.41	4.72	AC=22;AN=36;BQB=0.296413;DP4=316,112,530,198;DP=1631;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982078;SF=0,2,5,6,7,9,10,11,12,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.186437	GT:DP:DV:PL	1/1:69:69:255,208,0	.	0/1:59:32:255,0,255	.	.	0/1:101:51:255,0,255	0/1:70:37:255,0,255	1/1:64:64:255,193,0	.	0/1:47:19:255,0,255	0/1:55:26:255,0,255	0/1:44:23:255,0,255	0/1:58:30:255,0,255	.	.	0/1:68:38:255,0,255	1/1:64:64:255,193,0	0/1:48:27:255,0,255	.	0/1:49:25:255,0,255	0/1:66:36:255,0,255	0/1:94:42:255,0,255	0/1:28:7:173,0,255	1/1:106:106:255,255,0	0/1:66:32:255,0,255	A	G	4	14	Iron-refractory iron deficiency anemia, 206200 (3)	23263863(7E-12);23263863(2E-9);23263863(4E-7);23263863(2E-6);23263863(7E-19);23263863(5E-14);23263863(3E-8);23222517(1E-69);21785125(9E-11);21785125(5E-7);21785125(4E-9);21149283(2E-15);20927387(5E-9);20927387(1E-12);20858683(3E-14);20139978(1E-15);20139978(8E-14);20139978(5E-25);19862010(3E-25);19820699(5E-7);19820699(1E-10);19820698(2E-13)	Iron status and erythrocyte volume, association with(CM096696)	GTC-GCC|Val736Ala|c.2207T>C|p.V736A(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=19820699&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25601433&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23293981&dopt=Abstract)	19820699|25601433|23293981|23554218|22581667|20940420|19592582|19357398|18596229|18451267|18408718|12149247	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	37485724	rs2235324	T	C	224.4	PASS	TMPRSS6	transmembrane protease, serine 6	exonic	NM_001289000,NM_001289001,NM_153609	.	missense SNV	TMPRSS6:NM_001289000:exon7:c.A730G:p.K244E,TMPRSS6:NM_001289001:exon7:c.A730G:p.K244E,TMPRSS6:NM_153609:exon7:c.A757G:p.K253E	ENST00000346753.3,ENST00000442782.2,ENST00000381792.2,ENST00000406856.1,ENST00000406725.1	.	22q12.3	.	.	.	.	.	rs2235324	.	.	0.388704	0.4008	0.390375	0.3962	0.3979	0.4124	0.320061304747	0.360576824519	1.0,T	0.001,B	0.001,B	1,P	0.263158,N	-0.41,N	0.37,T	9.1985	-1.242	-1.868	.	.	AC=21;AN=30;BQB=0.524982;DP4=124,81,307,99;DP=895;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993313;SF=0,2,3,6,7,11,14,15,16,18,20,21,22,23,24;SGB=-0.69311;VDB=0.0524251	GT:DP:DV:PL	1/1:31:31:255,93,0	.	0/1:45:18:255,0,255	0/1:43:20:255,0,255	.	.	0/1:42:18:255,0,255	1/1:41:41:255,123,0	.	.	.	1/1:27:27:255,81,0	.	.	1/1:40:40:255,120,0	1/1:39:39:255,117,0	0/1:32:13:255,0,255	.	0/1:38:20:255,0,255	.	0/1:28:15:255,0,255	0/1:60:22:255,0,255	0/1:21:13:255,0,208	1/1:64:64:255,193,0	0/1:60:25:255,0,255	T	C	6	9	Iron-refractory iron deficiency anemia, 206200 (3)	.	Iron-refractory iron deficiency anaemia (IRIDA)(CM114691)	AAG-GAG|Lys253Glu|c.757A>G|p.K253E(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21643693&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25312922&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22265928&dopt=Abstract)	21643693|25312922|22265928|23554218|22581667|20940420|19592582|19357398|18596229|18451267|18408718|12149247	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	42523943	rs16947	A	G	226.5	PASS	CYP2D6	cytochrome P450, family 2, subfamily D, polypeptide 6	exonic	NM_000106,NM_001025161	.	missense SNV	CYP2D6:NM_001025161:exon5:c.T733C:p.C245R,CYP2D6:NM_000106:exon6:c.T886C:p.C296R	ENST00000416037.2,ENST00000439129.1,ENST00000389970.3,ENST00000359033.4,ENST00000360608.5	.	22q13.2	.	.	.	Score=0.964262;Name=chr22:42531352	.	rs16947	CLINSIG=drug response;CLNDBN=Debrisoquine\x2c_ultrarapid_metabolism_of;CLNACC=RCV000018391.27;CLNDSDB=MedGen;CLNDSDBID=C1837157	.	0.857143	0.8601	0.640775	0.5996	0.6567	0.8515	0.66692176876	0.769230752404	0.383,T	0.001,B	0.0,B	1,P	0.605212,N	.	-0.14,T	9.5064	-0.119	-1.199	.	.	AC=42;AN=48;BQB=0.789699;DP4=334,141,2682,1014;DP=5733;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.662066;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.824623	GT:DP:DV:PL	0/1:100:47:255,0,255	1/1:169:169:255,255,0	0/1:128:58:255,0,255	1/1:159:159:255,255,0	0/1:108:52:255,0,255	0/1:218:117:255,0,255	1/1:254:254:255,255,0	1/1:66:66:255,199,0	1/1:211:211:255,255,0	1/1:141:141:255,255,0	1/1:180:180:255,255,0	1/1:140:140:255,255,0	1/1:161:161:255,255,0	0/1:243:156:255,0,255	.	1/1:145:145:255,255,0	1/1:79:79:255,238,0	1/1:38:38:255,114,0	1/1:159:158:255,255,0	1/1:134:134:255,255,0	1/1:165:165:255,255,0	0/1:226:119:255,0,255	1/1:114:114:255,255,0	1/1:141:141:255,255,0	1/1:692:692:255,255,0	A	G	18	6	{Debrisoquine sensitivity}, 608902 (3); {Codeine sensitivity}, 608902 (3)	.	Parkinson disease, association with(CM930187)	CGC-TGC|Arg296Cys|c.886C>T|p.R296C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7903297&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23897164&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18784265&dopt=Abstract)	7903297|23897164|18784265|19809024|19738170|16924387|16920476|15625333|15174030|15128046|14991823|12051754|11376189|10861282|10768437|10675100|10634131|10022749|9931507|9918141|9357098|9352574|9352573|9241659|9241658|9012401|9012398|8845856|8807658|8764380|8634695|8530011|8449513|8093319|7951238|7935325|7927337|7903454|7901140|7616439|7574463|6594694|6508829|3987789|3829886|3739368|3739363|3712391|3582092|3472585|3410476|3123997|2899325|2819073|2574001|2211621|1978565|1978251|1975039|1782973|1673290|1358797|71525	.	.	.	KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PS1,PS3,BA1
L	22	42526694	rs1065852	G	A	224.84	PASS	CYP2D6	cytochrome P450, family 2, subfamily D, polypeptide 6	exonic	NM_000106,NM_001025161	.	missense SNV	CYP2D6:NM_000106:exon1:c.C100T:p.P34S,CYP2D6:NM_001025161:exon1:c.C100T:p.P34S	ENST00000416037.2,ENST00000439129.1,ENST00000389970.3,ENST00000359033.4,ENST00000360608.5	.	22q13.2	.	.	.	Score=0.964262;Name=chr22:42531352	.	rs1065852	CLINSIG=drug response;CLNDBN=Debrisoquine\x2c_poor_metabolism_of;CLNACC=RCV000018389.23;CLNDSDB=MedGen;CLNDSDBID=C1837156	Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)	0.614618	0.5714	0.238019	0.1885	0.2467	0.5910	0.454824015314	0.546874983173	0.012,D	1.0,D	1.0,D	5.24263e-08,P	0.000011,D	4.08,H	-1.77,D	14.6963	2.218	7.107	4.874850,24.9	3.46	AC=29;AN=38;BQB=0.340273;DP4=254,209,1323,991;DP=3891;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.584558;SF=1,2,3,4,6,8,9,10,11,12,13,15,17,18,19,20,22,23,24;SGB=-0.693147;VDB=4.46626e-07	GT:DP:DV:PL	.	0/1:153:104:255,0,255	0/1:113:56:255,0,255	1/1:124:124:255,255,0	0/1:77:36:255,0,255	.	1/1:199:199:255,255,0	.	1/1:203:203:255,255,0	0/1:97:63:255,0,255	0/1:145:82:255,0,255	0/1:137:87:255,0,255	0/1:128:88:255,0,255	0/1:214:142:255,0,255	.	1/1:116:116:255,255,0	.	1/1:27:27:255,81,0	1/1:106:106:255,255,0	1/1:99:99:255,255,0	1/1:139:139:255,255,0	.	1/1:73:73:255,220,0	1/1:139:139:255,255,0	0/1:488:431:255,0,57	G	A	10	9	{Debrisoquine sensitivity}, 608902 (3); {Codeine sensitivity}, 608902 (3)	24528284(8E-16);24528284(2E-16)	Poor metaboliser(CM900081)	CCA-TCA|Pro34Ser|c.100C>T|p.P34S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2211621&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18797858&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16527257&dopt=Abstract)	2211621|18797858|16527257|19809024|19738170|16924387|16920476|15625333|15174030|15128046|14991823|12051754|11376189|10861282|10768437|10675100|10634131|10022749|9931507|9918141|9357098|9352574|9352573|9241659|9241658|9012401|9012398|8845856|8807658|8764380|8634695|8530011|8449513|8093319|7951238|7935325|7927337|7903454|7901140|7616439|7574463|6594694|6508829|3987789|3829886|3739368|3739363|3712391|3582092|3472585|3410476|3123997|2899325|2819073|2574001|2211621|1978565|1978251|1975039|1782973|1673290|1358797|71525	.	.	.	KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_XENOBIOTICS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PS1,PS3,BA1
L	22	43089055	rs6002904	G	C	225	PASS	A4GALT	alpha 1,4-galactosyltransferase	exonic	NM_017436	.	synonymous SNV	A4GALT:NM_017436:exon3:c.C903G:p.P301P	ENST00000401850.1,ENST00000381278.3,ENST00000249005.2	CpG: 61	22q13.2	.	.	Score=830;Name=V$TAXCREB_01	.	.	rs6002904	.	.	0.707641	0.7063	0.695288	0.6533	0.6130	0.7155	0.555130127106	0.633413199519	.	.	.	.	.	.	.	.	0.221	0.970	.	.	AC=33;AN=44;BQB=0.974885;DP4=276,147,752,456;DP=2146;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.906029;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.569929	GT:DP:DV:PL	0/1:64:38:255,0,255	1/1:56:56:255,169,0	0/1:86:36:255,0,255	.	0/1:64:35:255,0,255	1/1:105:105:255,255,0	1/1:79:79:255,238,0	.	1/1:59:59:255,178,0	1/1:45:45:255,135,0	1/1:80:80:255,241,0	0/1:50:24:255,0,255	1/1:70:70:255,211,0	1/1:113:113:255,255,0	0/1:77:33:255,0,255	1/1:63:63:255,190,0	.	0/1:66:31:255,0,255	0/1:74:38:255,0,255	0/1:83:40:255,0,255	1/1:70:70:255,211,0	0/1:115:53:255,0,255	0/1:44:17:255,0,255	0/1:87:42:255,0,255	1/1:81:81:255,244,0	G	C	11	11	[Blood group, P1Pk system, p phenotype], 111400 (3); [Blood group, P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3)	.	Pk synthase deficiency (p phenotype)(CD045904)	GACATC^300AACCcCGAGGAGCTG|c.903delC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=15142124&dopt=Abstract)	15142124|22965229|20971946|15142124|12888565|11896312|11782470|10993874|10748143|10747952|9920164|9826718|7795329|7072192|6879680|3964810|2644022|1709864	MEMBRANE_ORGANIZATION_AND_BIOGENESIS	CELL_FRACTION;MEMBRANE_FRACTION	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;GALACTOSYLTRANSFERASE_ACTIVITY	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES	.	.	.	PS1,PS3,BA1
L	22	51064039	rs743616	G	C	223.38	PASS	ARSA	arylsulfatase A	exonic	NM_000487,NM_001085425,NM_001085426,NM_001085427,NM_001085428	.	missense SNV	ARSA:NM_000487:exon7:c.C1178G:p.T393S,ARSA:NM_001085428:exon7:c.C920G:p.T307S,ARSA:NM_001085425:exon8:c.C1178G:p.T393S,ARSA:NM_001085426:exon8:c.C1178G:p.T393S,ARSA:NM_001085427:exon8:c.C1178G:p.T393S	ENST00000216124.5,ENST00000395621.3,ENST00000547307.1,ENST00000356098.5,ENST00000395619.3,ENST00000453344.2,ENST00000547805.1	.	22q13.33	.	.	Score=794;Name=V$COMP1_01	.	.	rs743616	CLINSIG=Pathogenic|Benign;CLNDBN=Metachromatic_leukodystrophy|not_specified;CLNACC=RCV000020311.1|RCV000078937.4;CLNDSDB=MedGen:OMIM:SNOMED_CT|MedGen;CLNDSDBID=C0023522:250100:396338004|CN169374	.	0.30897	0.3214	0.405551	0.4841	0.4843	0.2984	0.240428646248	0.272836502404	0.454,T	0.0,B	0.0,B	1,P	0.650226,N	-1.62,N	-2.52,D	1.5892	0.053	0.101	.	.	AC=16;AN=26;BQB=0.180194;DP4=368,220,616,343;DP=2083;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.704224;SF=1,2,3,4,6,7,9,11,12,17,19,20,23;SGB=-0.693147;VDB=0.135985	GT:DP:DV:PL	.	0/1:120:55:255,0,255	1/1:126:126:255,255,0	0/1:117:57:255,0,255	0/1:102:47:255,0,255	.	0/1:121:61:255,0,255	1/1:144:144:255,255,0	.	0/1:89:49:255,0,255	.	0/1:96:51:255,0,255	0/1:120:50:255,0,255	.	.	.	.	0/1:98:47:255,0,255	.	0/1:135:63:255,0,255	1/1:133:133:255,255,0	.	.	0/1:146:76:255,0,255	.	G	C	3	10	Metachromatic leukodystrophy, 250100 (3)	.	Phenotype modifier, association with(CM910052)	ACT-AGT|Thr393Ser|c.1178C>G|p.T393S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11941485&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20220177&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1670590&dopt=Abstract)	11941485|20220177|1670590|16966551|15772092|12788103|12503099|12081727|11941485|11456299|11061266|10220151|9888390|9744473|9668161|9600244|9521684|9402957|9090526|8558556|8456837|8104633|8101083|8101038|8095918|7981715|7909527|7906588|7902317|7866401|7858169|7833949|7825603|7815433|7581401|7192199|6132551|6118238|2574462|2562955|1975241|1684088|1678251|1676699|1674719|1673291|1673113|1671769|1670590|1357970|1353340|1352356|38202|37046|36611	.	.	ARYLSULFATASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;SULFURIC_ESTER_HYDROLASE_ACTIVITY	KEGG_SPHINGOLIPID_METABOLISM;KEGG_LYSOSOME	.	.	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_THE_ACTIVATION_OF_ARYLSULFATASES;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	X	19375782	rs2229137	A	C	224	PASS	PDHA1	pyruvate dehydrogenase (lipoamide) alpha 1	exonic	NM_000284,NM_001173454,NM_001173455,NM_001173456	.	missense SNV	PDHA1:NM_001173456:exon8:c.A751C:p.M251L,PDHA1:NM_000284:exon9:c.A844C:p.M282L,PDHA1:NM_001173455:exon9:c.A865C:p.M289L,PDHA1:NM_001173454:exon10:c.A958C:p.M320L	ENST00000545074.1,ENST00000379804.1,ENST00000540249.1,ENST00000422285.2,ENST00000478795.1,ENST00000379806.5	.	Xp22.12	.	.	.	.	.	rs2229137	CLINSIG=Pathogenic|Benign;CLNDBN=Pyruvate_dehydrogenase_E1-alpha_deficiency|not_provided;CLNACC=RCV000011632.6|RCV000127400.1;CLNDSDB=MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=C1839414:312170:ORPHA79243|CN221809	.	0.226087	0.2356	0.0495364	0.0011	0.0207	0.2537	0.171821542955	0.184058	0.56,T	0.086,B	0.002,B	7.02323e-10,P	0.000000,D	-1.045,N	-3.58,D	14.8856	1.965	8.940	1.753536,14.71	5.53	AC=12;AN=18;BQB=0.970819;DP4=102,52,171,96;DP=560;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.130627;SF=2,3,8,9,12,13,20,21,24;SGB=-0.693127;VDB=0.0466592	GT:DP:DV:PL	.	.	0/1:58:33:255,0,255	0/1:64:27:255,0,255	.	.	.	.	0/1:56:31:255,0,255	0/1:45:21:255,0,255	.	.	0/1:31:15:255,0,255	1/1:24:23:255,12,0	.	.	.	.	.	.	0/1:57:31:255,0,255	1/1:50:50:255,151,0	.	.	1/1:36:36:255,108,0	A	C	3	6	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)	.	Pyruvate dehydrogenase deficiency(CM950922) || Pyruvate dehydrogenase deficiency(CM119793)	ATG-CTG|Met282Leu|c.844A>C|p.M282L(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8032855&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8598634&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23871722&dopt=Abstract) || ATG-GTG|Met282Val|c.844A>G|p.M282V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21914562&dopt=Abstract)	8032855|8598634|23871722|21914562|23685455|15514159|15070761|12379317|10767328|10679936|10486093|10077682|9686362|9671272|9266390|9003499|8771169|8664900|8504309|8504306|8498846|8307573|8199595|8032855|7887409|7887408|7853374|7692352|7684627|7672509|7573035|3422424|3137520|3034892|2828359|2748588|2745444|2737678|2537010|2378353|2339687|1967901|1909778|1909401|1907799|1779625|1770778|1551669|1508605|1338114|1301207|1293379	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	.	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_CITRATE_CYCLE_TCA_CYCLE;KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_BIOSYNTHESIS;KEGG_PYRUVATE_METABOLISM;KEGG_BUTANOATE_METABOLISM	.	.	REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE;REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_REGULATION_OF_PYRUVATE_DEHYDROGENASE_PDH_COMPLEX;REACTOME_PYRUVATE_METABOLISM	PS1,PS3,BA1
L	X	30326983	rs2269345	C	T	227.33	PASS	NR0B1	nuclear receptor subfamily 0, group B, member 1	exonic	NM_000475	.	synonymous SNV	NR0B1:NM_000475:exon1:c.G498A:p.R166R	ENST00000378970.4,ENST00000453287.1	CpG: 116	Xp21.2	.	.	.	.	.	rs2269345	.	.	0.728261	0.7264	0.476556	0.2828	0.3984	0.7476	0.552405549828	0.633333333333	.	.	.	.	.	.	.	.	-0.185	0.584	.	.	AC=34;AN=36;BQB=0.975024;DP4=36,21,631,195;DP=1257;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.846519;SF=0,1,2,3,5,6,8,9,10,12,13,15,16,17,18,19,20,22;SGB=-0.69311;VDB=0.0415054	GT:DP:DV:PL	1/1:31:31:255,93,0	1/1:48:48:255,144,0	1/1:76:76:255,229,0	0/1:60:25:255,0,255	.	1/1:125:125:255,255,0	1/1:25:25:255,75,0	.	1/1:56:56:255,169,0	1/1:49:49:255,148,0	1/1:34:34:255,102,0	.	1/1:53:53:255,160,0	1/1:40:40:255,120,0	.	1/1:27:27:255,81,0	1/1:35:35:255,105,0	1/1:24:24:255,72,0	1/1:30:30:255,90,0	1/1:49:49:255,148,0	1/1:75:75:255,226,0	.	0/1:46:24:255,0,255	.	.	C	T	16	2	Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, 300200 (3); 46XY sex reversal 2, dosage-sensitive, 300018 (3)	.	Adrenal hypoplasia(CD125658)	CCGAG^165GCACGgCCAGGGGGCG|c.498delG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22761912&dopt=Abstract)	22761912|17686645|17164309|16709599|16684822|16146703|15589120|15044589|12700175|12679814|12629128|12519885|12213854|12034880|11788621|11748841|11549627|11297612|11113848|10848616|10675358|10599709|10599708|10522996|10369247|10361383|10210708|9843206|9709929|9661652|9590178|9529340|9486644|9415399|9384387|9360549|9003500|8961266|8921887|8880579|8855822|8770879|8770856|8675564|8636263|8630494|8593542|8187173|7990958|7990953|6891556	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REPRODUCTIVE_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;STEROID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;LIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;CELLULAR_LIPID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;GLAND_DEVELOPMENT;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;STEROID_BIOSYNTHETIC_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;REPRODUCTION	RIBONUCLEOPROTEIN_COMPLEX;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;CELL_FRACTION;RIBOSOME;MEMBRANE_FRACTION;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;MACROMOLECULAR_COMPLEX	SPECIFIC_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;RNA_BINDING;SEQUENCE_SPECIFIC_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	.	PID_ERB_GENOMIC_PATHWAY;PID_AR_TF_PATHWAY;PID_ERA_GENOMIC_PATHWAY	BIOCARTA_CARM_ER_PATHWAY	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PS1,PS3,BA1
L	X	31496350	rs1800280	C	T	227.43	PASS	DMD	dystrophin	exonic	NM_000109,NM_004006,NM_004009,NM_004010,NM_004011,NM_004012,NM_004013,NM_004014,NM_004020,NM_004021,NM_004022,NM_004023	.	missense SNV	DMD:NM_004014:exon5:c.G623A:p.R208Q,DMD:NM_004013:exon16:c.G1430A:p.R477Q,DMD:NM_004020:exon16:c.G1430A:p.R477Q,DMD:NM_004021:exon16:c.G1430A:p.R477Q,DMD:NM_004022:exon16:c.G1430A:p.R477Q,DMD:NM_004023:exon16:c.G1430A:p.R477Q,DMD:NM_004011:exon31:c.G4787A:p.R1596Q,DMD:NM_004012:exon31:c.G4778A:p.R1593Q,DMD:NM_000109:exon59:c.G8786A:p.R2929Q,DMD:NM_004006:exon59:c.G8810A:p.R2937Q,DMD:NM_004009:exon59:c.G8798A:p.R2933Q,DMD:NM_004010:exon59:c.G8441A:p.R2814Q	ENST00000541735.1,ENST00000378677.2,ENST00000343523.2,ENST00000357033.4,ENST00000359836.1,ENST00000474231.1,ENST00000378707.3	.	Xp21.2	.	.	.	.	.	rs1800280	CLINSIG=Benign|Benign\x2cBenign;CLNDBN=not_specified|Duchenne_muscular_dystrophy\x2cnot_specified;CLNACC=RCV000124712.2|RCV000206630.1,RCV000152765.3;CLNDSDB=MedGen|MedGen:OMIM:ORPHA:SNOMED_CT\x2cMedGen;CLNDSDBID=CN169374|C0013264:310200:98896:76670001\x2cCN169374	.	0.930435	0.928	0.881854	0.9568	0.9045	0.9234	0.717354037801	0.811594333333	0.42,T	0.001,B	0.0,B	0.999826,P	0.003095,N	.	1.01,T	8.899	0.789	0.870	2.138165,17.10	4.23	AC=44;AN=46;BQB=0.964192;DP4=41,15,655,165;DP=1211;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.189063;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23;SGB=-0.692976;VDB=0.0856424	GT:DP:DV:PL	1/1:26:26:255,78,0	1/1:25:25:255,75,0	1/1:52:52:255,157,0	1/1:63:63:255,190,0	1/1:23:23:255,69,0	1/1:70:70:255,211,0	1/1:32:32:255,96,0	1/1:71:71:255,214,0	1/1:52:52:255,157,0	0/1:54:17:255,0,255	1/1:33:33:255,99,0	1/1:16:16:255,48,0	1/1:47:47:255,141,0	1/1:22:22:255,66,0	1/1:22:22:255,66,0	1/1:32:32:255,96,0	1/1:24:24:255,72,0	1/1:21:21:255,63,0	.	1/1:23:23:255,69,0	1/1:53:53:255,160,0	1/1:42:42:255,126,0	0/1:36:17:255,0,255	1/1:37:37:255,111,0	.	C	T	21	2	Duchenne muscular dystrophy, 310200 (3); Becker muscular dystrophy, 300376 (3); Cardiomyopathy, dilated, 3B, 302045 (3)	.	Muscular dystrophy, Duchenne(CM135605)	CAG-CGG|Gln2937Arg|c.8810A>G|p.Q2937R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23438214&dopt=Abstract)	23438214|25123483|20485447|19744959|19602481|19542095|19449031|19416869|19401296|19367636|19206170|19198614|19158079|19131360|19001018|18652600|18059005|17943131|17579806|17024373|16917894|16476707|16077730|16025101|15643612|15528407|15385445|15190010|15128945|14962982|14681829|14681298|14645204|13989613|13970129|13717731|13469170|12915458|12874102|12847521|12812982|12794683|12754707|12719373|12673664|12632325|12522557|12459784|12414501|12140183|12118246|12107815|12077324|12073011|12054513|11978768|11929846|11875496|11823445|11734539|11726549|11581289|11053684|11039581|10988241|10909857|10814717|10753926|10517639|10480348|10471486|10449429|10227400|10086389|9887326|9700191|9683584|9618170|9410897|9344670|9195228|9170407|8934518|8834255|8817332|8789442|8615079|8589698|8518789|8504498|8499922|8413368|8401582|8401539|8401537|8364587|8361506|8355788|8326329|8322822|8301652|8282811|8281151|8281150|8279470|8277968|8209894|8199594|8160755|8145928|8123157|7981747|7981590|7969238|7951253|7936290|7894483|7894482|7881286|7849695|7825571|7824089|7726234|7719347|7668831|7649554|7635962|7610771|7581396|7550238|7280687|6745920|6620324|6445503|6266278|6087154|6086495|4039107|3955860|3791685|3785354|3773991|3712394|3678494|3659917|3652206|3629260|3607877|3574369|3398004|3384440|3347839|3346018|3319190|3294410|3290682|3287171|3285207|3282674|3275902|3209849|3169738|3162851|3162536|3060377|3030926|3014348|3001530|2995924|2991893|2929594|2927671|2912889|2903663|2903662|2903046|2890571|2890056|2889148|2889145|2889144|2862587|2858615|2821406|2766561|2677830|2662404|2573997|2568331|2567117|2565599|2543105|2536049|2495532|2491010|2491009|2450401|2447503|2406613|2404210|2383276|2316519|2286374|2253937|2176467|2158637|2071150|2040695|1998344|1996328|1974880|1918370|1868831|1864612|1824797|1757094|1714233|1644931|1644927|1632439|1601417|1577476|1549596|1536178|1522852|1513469|1483053|1415256|1415217|1383546|1347968|1322353|1319059|1307253|1301944|1301188|1301174|1301145|1195397|414220	BIOSYNTHETIC_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_BIOSYNTHETIC_PROCESS;PEPTIDE_METABOLIC_PROCESS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CONTRACTILE_FIBER;MYOFIBRIL;MEMBRANE_PART;BASEMENT_MEMBRANE;MEMBRANE;CYTOPLASM;BASAL_LAMINA;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;DYSTROPHIN_ASSOCIATED_GLYCOPROTEIN_COMPLEX;EXTRACELLULAR_REGION_PART;CONTRACTILE_FIBER_PART;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;MACROMOLECULAR_COMPLEX;EXTRACELLULAR_MATRIX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	ACTIN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;STRUCTURAL_CONSTITUENT_OF_MUSCLE	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY;KEGG_VIRAL_MYOCARDITIS	.	BIOCARTA_AGR_PATHWAY	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	PS1,PS3,BA1
L	X	43591036	rs6323	G	T	224.2	PASS	MAOA	monoamine oxidase A	exonic	NM_000240,NM_001270458	.	synonymous SNV	MAOA:NM_000240:exon8:c.G891T:p.R297R,MAOA:NM_001270458:exon9:c.G492T:p.R164R	ENST00000338702.3,ENST00000542639.1	.	Xp11.3	.	.	.	.	.	rs6323	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000078415.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.443478	0.4254	0.624901	0.7585	0.6529	0.4411	0.334192281787	0.384057666667	.	.	.	.	.	.	.	.	-0.232	0.143	.	2.07	AC=26;AN=30;BQB=0.994163;DP4=43,29,149,164;DP=523;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.888219;SF=0,3,4,5,8,10,11,12,13,14,15,18,20,21,22;SGB=-0.692067;VDB=0.0258214	GT:DP:DV:PL	1/1:20:20:255,60,0	.	.	1/1:36:36:255,108,0	1/1:22:22:255,66,0	0/1:40:20:255,0,255	.	.	0/1:44:17:255,0,255	.	1/1:23:23:255,69,0	1/1:14:14:255,42,0	0/1:32:21:255,0,237	1/1:21:21:255,63,0	1/1:19:19:255,57,0	1/1:16:16:255,48,0	.	.	1/1:12:12:255,36,0	.	1/1:39:39:255,117,0	1/1:23:23:255,69,0	0/1:24:10:223,0,255	.	.	G	T	11	4	Brunner syndrome, 300615 (3)	.	Bipolar disorder, association with(CM073190)	CGT-CGG|Arg297Arg|c.891T>G|p.R297R(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16958037&dopt=Abstract)	16958037|24169519|20573161|20485326|19168625|18212819|16829576|16569698|16202396|15652876|15272015|12919132|12773616|12366871|12161658|12136060|11805333|10202537|10072430|9799080|8613523|8503438|8211186|8018211|7880306|7792602|7573065|7437013|7196439|7063850|3540317|2998655|2906043|2793188|2744764|2483108|2023912|1678250|1427833	BEHAVIOR	.	.	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM;KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_HISTIDINE_METABOLISM;KEGG_TYROSINE_METABOLISM;KEGG_PHENYLALANINE_METABOLISM;KEGG_TRYPTOPHAN_METABOLISM;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE	PS1,PS3,BA1
L	X	85149215	rs74349919	C	T	222	PASS	CHM	choroideremia (Rab escort protein 1)	exonic	NM_000390	.	synonymous SNV	CHM:NM_000390:exon12:c.G1488A:p.T496T	ENST00000537751.1,ENST00000357749.2,ENST00000467744.2	.	Xq21.2	.	.	Score=907;Name=V$OCT1_06	.	.	rs74349919	.	.	0.0586957	0.0602	0.0172185	0.0015	0.0053	0.0522	0.0429553728522	0.0478261333333	.	.	.	.	.	.	.	.	-1.475	0.216	1.568343,13.68	.	AC=1;AN=2;BQB=0.518176;DP4=12,0,9,6;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.306895;SF=20;SGB=-0.688148;VDB=0.983921	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:15:255,0,255	.	.	.	.	C	T	0	1	Choroideremia, 303100 (3)	.	Choroideraemia(CX118087)	GTTCT^495TCAACgATGACATGCA Ins: attac|c.1488delGinsATTAC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=22025891&dopt=Abstract)	22025891|24913019|21905166|16410831|15186776|14983050|12827496|12203991|10588724|10377420|9585588|9192895|9175730|9067750|8477262|8387377|8380507|8242078|7981671|7981670|3476958|2798422|2220804|2215697|1904992|1598901|1549574|1525821|1302003	BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;LIPOPROTEIN_METABOLIC_PROCESS;SENSORY_PERCEPTION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_LIPIDATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;NEUROLOGICAL_SYSTEM_PROCESS;BIOPOLYMER_MODIFICATION;LIPOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;SYSTEM_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYLOTHER_THAN_METHYLGROUPS	.	.	.	.	PS1,PS3,BA1
L	X	105278361	rs1804495	C	A	226	PASS	SERPINA7	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	exonic	NM_000354	.	missense SNV	SERPINA7:NM_000354:exon4:c.G909T:p.L303F	ENST00000372563.1,ENST00000487487.1,ENST00000327674.4	.	Xq22.3	.	.	.	.	.	rs1804495	CLINSIG=other;CLNDBN=Thyroxine-binding_globulin\x2c_variant_P;CLNACC=RCV000010442.2;CLNDSDB=.;CLNDSDBID=.	.	0.269565	0.2592	0.179603	0.1158	0.1434	0.2332	0.166666569759	0.227536	0.013,D	0.735,P	0.983,D	0.999994,P	0.457388,N	3.39,M	-2.78,D	1.9978	0.352	-0.652	4.183255,23.8	2.51	AC=15;AN=18;BQB=0.976472;DP4=26,20,70,64;DP=234;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.933504;SF=0,4,7,12,14,15,20,22,23;SGB=-0.692717;VDB=0.0875227	GT:DP:DV:PL	1/1:23:23:255,69,0	.	.	.	1/1:12:12:255,36,0	.	.	0/1:29:14:255,0,255	.	.	.	.	0/1:26:13:255,0,255	.	1/1:15:15:255,45,0	1/1:14:14:255,42,0	.	.	.	.	0/1:32:14:255,0,255	.	1/1:15:15:255,45,0	1/1:14:14:255,42,0	.	C	A	6	3	Thyroxine-binding globulin deficiency (3)	.	Thyroxine-binding globulin deficiency, association(CM920665) || Thyroxine-binding globulin deficiency(CD013484)	TTG-TTT|Leu303Phe|c.909G>T|p.L303F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1515456&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25333069&dopt=Abstract) || GGGTT^302GACTTgTTTGTTCCAA|c.909delG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11600582&dopt=Abstract)	1515456|25333069|11600582|18407078|14134070|13893673|13798328|11889160|11600582|11095421|11061524|10580756|9768672|9510125|8964852|8636271|8530630|7951486|7635701|7557975|7499319|6794959|6794564|6789676|6428221|6424646|6415085|6286461|6162169|5904538|4987801|4982599|4966620|4965464|4958593|4957281|4627386|4625785|4214930|4171474|4169433|4111366|3935040|3931215|3928734|3115094|3114125|3102557|3094014|3093522|3081807|2969453|2495303|2491856|2155256|2115061|2106478|1943753|1906892|1906047|1901689|1303279|402376|119595	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	X	107829907	rs2272945	G	C	216.25	PASS	COL4A5	collagen, type IV, alpha 5	exonic	NM_000495,NM_033380	.	synonymous SNV	COL4A5:NM_000495:exon19:c.G1095C:p.G365G	ENST00000361603.2,ENST00000328300.6	.	Xq22.3	.	.	.	.	.	rs2272945	CLINSIG=Benign;CLNDBN=Alport_syndrome\x2c_X-linked_recessive;CLNACC=RCV000021244.1;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C1567742:301050:88917	.	0.147826	0.1453	0.150464	0.1245	0.0524	0.1452	0.103951861168	0.1260869	.	.	.	.	.	.	.	.	-0.132	-1.338	.	.	AC=6;AN=8;BQB=0.763851;DP4=32,5,43,18;DP=142;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0292097;SF=2,6,13,20;SGB=-0.676189;VDB=0.0907646	GT:DP:DV:PL	.	.	0/1:32:11:221,0,255	.	.	.	1/1:16:16:255,48,0	.	.	.	.	.	.	1/1:19:19:255,57,0	.	.	.	.	.	.	0/1:31:15:255,0,255	.	.	.	.	G	C	2	2	Alport syndrome, 301050 (3)	.	Alport syndrome(CD961909)	TGGGTTG^364CCTgggttgcctGGAGAAAAAG|c.1095_1103delGTTGCCTGG(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8738805&dopt=Abstract)	8738805|25575550|21729787|16133187|12796257|12436246|9195222|9150741|8940267|8825605|8662866|8651292|8596916|8356449|8281136|8171024|8132760|8120014|7987301|7706490|6650503|2349482|2004755|1783380|1733850|1689491|1672282|1635357|1598909|1577459|1453602|1376965|1363780|1352287|1330889	.	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	X	107834453	rs2272946	T	G	149.75	PASS	COL4A5	collagen, type IV, alpha 5	exonic	NM_000495,NM_033380	.	missense SNV	COL4A5:NM_000495:exon20:c.T1331G:p.I444S	ENST00000361603.2,ENST00000328300.6	.	Xq22.3	.	.	.	.	.	rs2272946	CLINSIG=Benign;CLNDBN=Alport_syndrome\x2c_X-linked_recessive;CLNACC=RCV000021277.1;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C1567742:301050:88917	.	0.147826	0.1453	0.149404	0.1216	0.0512	0.1449	0.0902061402062	0.1260869	0.541,T	0.042,B	0.04,B	1e-37,P	0.099137,N	0.695,N	-2.6,D	7.4708	0.611	0.663	.	3.91	AC=6;AN=8;BQB=0.522814;DP4=10,9,9,14;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998531;SF=2,6,13,20;SGB=-0.616816;VDB=0.293058	GT:DP:DV:PL	.	.	0/1:16:6:204,0,255	.	.	.	1/1:8:8:255,24,0	.	.	.	.	.	.	1/1:5:5:122,15,0	.	.	.	.	.	.	0/1:13:4:139,0,255	.	.	.	.	T	G	2	2	Alport syndrome, 301050 (3)	.	Alport syndrome(CM960359)	ATT-AGT|Ile444Ser|c.1331T>G|p.I444S(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8648925&dopt=Abstract)	8648925|25575550|21729787|16133187|12796257|12436246|9195222|9150741|8940267|8825605|8662866|8651292|8596916|8356449|8281136|8171024|8132760|8120014|7987301|7706490|6650503|2349482|2004755|1783380|1733850|1689491|1672282|1635357|1598909|1577459|1453602|1376965|1363780|1352287|1330889	.	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PS1,PS3,BA1
L	X	153760654	rs2230037	G	A	225	PASS	G6PD	glucose-6-phosphate dehydrogenase	exonic	NM_000402,NM_001042351	.	synonymous SNV	G6PD:NM_000402:exon11:c.C1401T:p.Y467Y,G6PD:NM_001042351:exon11:c.C1311T:p.Y437Y	ENST00000369620.2,ENST00000393564.2,ENST00000393562.2	.	Xq28	.	.	.	.	.	rs2230037	CLINSIG=Benign|Benign;CLNDBN=Glucose_6_phosphate_dehydrogenase_deficiency|not_specified;CLNACC=RCV000011084.4|RCV000079394.4;CLNDSDB=MedGen|MedGen;CLNDSDBID=C0017758|CN169374	.	0.128261	0.1283	0.215894	0.1667	0.1672	0.1000	0.0833334013746	0.107246466667	.	.	.	.	.	.	.	.	-3.552	-2.087	.	.	AC=9;AN=12;BQB=0.38107;DP4=71,29,153,59;DP=395;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99995;SF=0,3,6,16,20,22;SGB=-0.693097;VDB=0.952232	GT:DP:DV:PL	1/1:30:30:255,90,0	.	.	0/1:78:39:255,0,255	.	.	1/1:38:38:255,114,0	.	.	.	.	.	.	.	.	.	1/1:43:43:255,129,0	.	.	.	0/1:90:44:255,0,255	.	0/1:33:18:255,0,255	.	.	G	A	3	3	Hemolytic anemia due to G6PD deficiency, 300908 (3); Favism, 134700 (3); {Resistance to malaria due to G6PD deficiency}, 611162 (3)	.	Glucose-6-phosphate dehydrogenase deficiency(CM133486)	TAC-TAT|Tyr437Tyr|c.1311C>T|p.Y437Y(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23389243&dopt=Abstract)	23389243|22121116|20007901|18177777|18043863|17948498|17842795|17273168|17233850|16607506|16591538|16528451|16155737|16143877|16136268|15349799|14757696|14278484|14260699|14228003|14207553|14172618|14158057|14124079|14067093|14014720|13985567|13756265|13500095|12768444|12673656|12169625|12130518|12028056|11857737|11852882|11499668|11445808|11423617|11112389|10734064|10698963|10666231|9746794|9674740|9634367|9342374|9233561|9109443|8956035|8826878|8825599|8808605|8807322|8579052|8533762|8490627|8471773|8447319|8364584|8241497|7947250|7617034|7607684|7450778|7450750|7450748|7441068|7407414|7401130|7393270|7390473|7364565|7358391|7353072|7353069|7327562|7327555|7316485|7315103|7291768|7259990|7250973|7228057|7221827|7216225|7203486|7166314|7160841|7148122|7129446|7123903|7106752|7076260|7076249|7055648|6946512|6930669|6895658|6832252|6812368|6714986|6714978|6698555|6693129|6654337|6540752|6500558|6453040|6433630|6426235|6344088|6337374|6163210|6032005|6015571|5930024|5925237|5913292|5870191|5844610|5782116|5779160|5770172|5765510|5764873|5710590|5674071|5673160|5667020|5666113|5653554|5643703|5580403|5568155|5516240|5496124|5493238|5492291|5485383|5439677|5435642|5421739|5413384|5369703|5365756|5364922|5359663|5316621|5311120|5305539|5299754|5115324|5105366|5087725|5081671|5047808|5046624|5031985|5011553|4974311|4889647|4842775|4838696|4837298|4828221|4768554|4753845|4749241|4728291|4728291|4721339|4719636|4701992|4673853|4666752|4650733|4628608|4435794|4408431|4402065|4398877|4398791|4398790|4397482|4397065|4392654|4388268|4388132|4380311|4379606|4283789|4261190|4256637|4252680|4246285|4209318|4154774|4154719|4153368|4152602|4151903|4149233|4147554|4141762|4125296|4085453|4029955|4007855|3980015|3967887|3849316|3793116|3740052|3706292|3681551|3653894|3610149|3606560|3591235|3565372|3515319|3446582|3393536|3369438|3366466|3360447|3348252|3338798|3198117|3114091|3012556|2919631|2917200|2912886|2912069|2910917|2897162|2895981|2840819|2836867|2835227|2758468|2602358|2596828|2591977|2503817|2428611|2393028|2321910|2307454|2263506|2255919|2253938|2248331|2157298|2063914|2005960|1999409|1999339|1984194|1978555|1978554|1972698|1924316|1889820|1879833|1734718|1631957|1611091|1562739|1551674|1536798|1354645|1353664|1323345|1303182|1303173|1276080|1201235|1201217|1188317|1150303|1150271|1150245|1147889|1056018|1054832|1008056|1002152|955939|939229|921743|903703|859288|848857|835572|830903|823756|814049|752149|736032|730178|669721|631849|626479|624546|598844|598829|588239|561093|542803|532804|511159|472761|284409|241700|235389|144081|85108|27443|23402|18839|17221|16832|15940|14470|12846|5448|1007	GLUCOSE_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS	CYTOPLASM	.	KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_GLUTATHIONE_METABOLISM	.	.	REACTOME_METABOLISM_OF_CARBOHYDRATES	PS1,PS3,BA1
L	X	154158201	rs1800292	T	G	217.12	PASS	F8	coagulation factor VIII, procoagulant component	exonic	NM_000132	.	synonymous SNV	F8:NM_000132:exon14:c.A3864C:p.S1288S	ENST00000360256.4	.	Xq28	.	.	.	.	.	rs1800292	CLINSIG=Benign;CLNDBN=Hereditary_factor_VIII_deficiency_disease;CLNACC=RCV000033893.2;CLNDSDB=MedGen:OMIM:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C0019069:134500:306700:98878:28293008	.	0.180435	0.1793	0.16053	0.0801	0.1392	0.1557	0.129725166323	0.134782766667	.	.	.	.	.	.	.	.	0.171	0.837	.	2.55	AC=11;AN=16;BQB=0.934091;DP4=39,25,78,50;DP=259;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885846;SF=3,6,8,9,14,16,20,22;SGB=-0.680642;VDB=0.761804	GT:DP:DV:PL	.	.	.	0/1:23:12:226,0,255	.	.	1/1:17:17:255,51,0	.	0/1:41:22:255,0,255	0/1:34:16:255,0,255	.	.	.	.	1/1:17:17:255,51,0	.	1/1:20:20:255,60,0	.	.	.	0/1:28:17:255,0,251	.	0/1:12:7:227,0,167	.	.	T	G	3	5	Hemophilia A, 306700 (3)	.	Haemophilia A(CI992004)	CTCAT^1287TTCTCcAAAAAAAGGG|c.3863dupC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10404764&dopt=Abstract)	10404764|23926300|21217077|19369668|18691168|18217193|16786531|15431070|14008280|12884004|12406074|12351418|12242334|11857744|11713379|11110718|11023529|10586887|9042915|8968748|8644728|8576960|8497853|8490618|8486358|8485051|8449505|8322269|8307558|8281136|8275087|8259143|8069313|8054459|8052958|7981669|7728145|7662970|6818542|6783066|6438528|6438527|6438526|6438525|6253938|6165414|5955559|5751674|5096534|4626584|4568863|4213756|4126092|4000972|3932885|3482420|3338800|3139545|3131627|3122181|3097553|3035554|3013509|3012775|2999980|2994779|2993888|2992799|2987873|2987704|2986139|2986011|2907841|2901224|2887317|2882794|2865465|2861360|2835904|2835307|2833855|2831458|2713278|2589319|2567219|2565080|2510835|2506948|2501212|2498882|2497061|2495245|2493803|2473810|2387581|2159433|2125022|2121641|2110545|2109644|2107542|2106480|2105906|2105106|2104766|2104741|1979502|1975557|1969840|1924291|1924290|1923751|1908817|1908096|1840568|1768766|1688823|1671991|1662412|1639429|1609806|1594597|1569181|1569180|1559571|1523102|1412186|1357455|1349567|1303175|1301960|1301932|1301194|1159083|343683|56653	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	.	BIOCARTA_INTRINSIC_PATHWAY	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PS1,PS3,BA1
Priority	CHROM	POS	ID	REF	ALT	QUAL	FILTER	GeneName	Description	Func	Gene	GeneDetail	ExonicFunc	AAChange	Gencode	cpgIslandExt	cytoBand	wgRna	targetScanS	tfbsConsSites	genomicSuperDups	Repeat	avsnp147	clinvar_20160302	gwasCatalog	1000g2015aug_Chinese	1000g2015aug_eas	1000g2015aug_all	esp6500siv2_all	ExAC_ALL	ExAC_EAS	NovoDb_WES_INDEL	NovoDb_WGS_INDEL	SIFT	Polyphen2_HVAR	Polyphen2_HDIV	MutationTaster	LRT	MutationAssessor	FATHMM	SiPhy_29way_logOdds	phyloP46way_placental	phyloP100way_vertebrate	CADD	gerp++gt2	INFO	FORMAT	CHD12	CHD14	CHD15	CHD16	CHD17	CHD19	CHD21	CHD22	CHD23	CHD24	CHD25	CHD26	CHD27	CHD28	CHD29	CHD30	CHD31	CHD32	CHD33	CHD34	CHD36	CHD13	CHD18	CHD20	CHD35	Ori_REF	Ori_ALT	shared_hom	shared_het	OMIM	GWAS_Pubmed_pValue	HGMD_Disease_ID	HGMD_Mutation_URL	PubMedID	GO_BP	GO_CC	GO_MF	KEGG_PATHWAY	PID_PATHWAY	BIOCARTA_PATHWAY	REACTOME_PATHWAY	ACMG
L	5	156479568	rs139041445	C	CGTT	195.48	PASS	HAVCR1	hepatitis A virus cellular receptor 1	exonic	NM_001173393,NM_001308156,NM_012206	.	nonframeshift insertion	HAVCR1:NM_012206:exon3:c.476_477insAAC:p.T159delinsTT,HAVCR1:NM_001173393:exon4:c.476_477insAAC:p.T159delinsTT,HAVCR1:NM_001308156:exon4:c.476_477insAAC:p.T159delinsTT	ENST00000523175.1,ENST00000339252.3,ENST00000522693.1,ENST00000425854.1,ENST00000544197.1	.	5q33.3	.	.	.	.	.	rs139041445	.	.	0.245847	0.2232	0.330471	.	0.5632	0.5530	0.24502279173	0.223557456731	.	.	.	.	.	.	.	.	.	.	-0.192543,3.064	.	AC=38;AN=46;DP4=13,29,481,603;DP=1890;HOB=0.5;ICB=1;IDV=2;IMF=0.0115607;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,19,20,21,23,24;SGB=-0.590765;VDB=0.697961	GT:DP:DV:PL	1/1:6:5:162,4,0	1/1:75:75:255,226,0	1/1:7:6:255,5,0	0/1:8:5:223,0,43	0/1:7:3:150,0,106	1/1:90:90:255,255,0	1/1:102:102:255,255,0	1/1:79:79:255,238,0	0/1:9:6:225,0,21	0/1:10:3:87,0,127	1/1:78:78:255,235,0	0/1:10:7:202,0,23	1/1:131:131:255,255,0	1/1:76:76:255,229,0	0/1:15:7:233,0,124	.	1/1:94:94:255,255,0	1/1:131:131:255,255,0	1/1:6:6:230,18,0	1/1:11:10:255,17,0	0/1:12:5:175,0,188	0/1:8:6:236,0,17	.	1/1:153:153:255,255,0	1/1:8:6:195,0,4	CGT	CGTTGT	15	8	{Atopy, resistance to}, 147050 (3)	.	Hepatitis A-induced acute liver failure, susceptibility to, association with(CI112194)	GACTGTT^157CCAatgacaacgactgttccaATGACGACTG|c.459_476dup18(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21339644&dopt=Abstract)	21339644|20566714|18414680|18294362|17960135|17363299|16284246|15793576|15793575|15153541|14534576|11905816|11725301|9658108	.	.	.	.	.	.	.	PS1,PS3,BA1
H	11	6411935	rs3838786	TGCTGGC	T	225.43	PASS	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	exonic	NM_000543,NM_001007593	.	nonframeshift deletion	SMPD1:NM_000543:exon1:c.108_113del:p.36_38del,SMPD1:NM_001007593:exon1:c.108_113del:p.36_38del	ENST00000342245.4,ENST00000299397.3,ENST00000356761.2,ENST00000533196.1,ENST00000527275.1	.	11p15.4	.	.	Score=876;Name=V$CP2_01	.	.	rs3838786	.	.	.	.	.	.	0.2239	0.0740	0.105114	0.0478261	.	.	.	.	.	.	.	.	.	.	1.630265,11.41	.	AC=11;AN=14;DP4=76,27,211,159;DP=651;HOB=0.5;ICB=1;IDV=44;IMF=0.419048;MQ0F=0;MQ=60;MQSB=1;SF=0,4,5,19,20,22,24;SGB=-0.693146;VDB=0.00159625	GT:DP:DV:PL	0/1:78:44:255,0,255	.	.	.	0/1:67:39:255,0,255	1/1:75:75:255,226,0	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:46:46:255,135,0	0/1:91:50:255,0,255	.	1/1:45:45:255,135,0	.	1/1:71:71:255,214,0	TGCTGGCGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC	TGCTGGCGCTGGCGCTGGCGCTGGCGCTGGC	4	3	Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3)	.	Sphingomyelinase deficiency(CI128391)	TGGGC^35CTGGTctggcGCTGGCGCTG|c.107_108insCTGGC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23430949&dopt=Abstract)	23430949|20111001|19405096|17259995|16642440|15877209|15067322|12750523|12694237|12607113|12531875|12369017|11932991|11310411|11173664|9393854|9266408|8706124|8664904|8401540|8288255|8225311|8051942|7762557|7670466|7600574|2555181|2023926|2004772|1885770|1840600|1740330|1718266|1618760|1565614|1391960|1301192	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	KEGG_SPHINGOLIPID_METABOLISM;KEGG_LYSOSOME	PID_TRAIL_PATHWAY;PID_FASPATHWAY;PID_TNFPATHWAY;PID_IL2_PI3KPATHWAY;PID_CERAMIDE_PATHWAY	BIOCARTA_CERAMIDE_PATHWAY;BIOCARTA_EDG1_PATHWAY	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PS1,PS3,BA1
L	18	47405425	rs3841750	T	TGAG	223.53	PASS	MYO5B	myosin VB	exonic	NM_001080467	.	nonframeshift insertion	MYO5B:NM_001080467:exon24:c.3165_3166insCTC:p.M1056delinsLM	ENST00000285039.7,ENST00000324581.6	.	18q21.1	.	.	.	.	.	rs3841750	.	.	0.607973	0.5685	0.404752	0.3017	0.3420	0.5461	0.565849973966	0.586538216346	.	.	.	.	.	.	.	.	.	.	0.213035,5.149	.	AC=24;AN=38;DP4=166,99,256,218;DP=836;HOB=0.5;ICB=1;IDV=46;IMF=0.938776;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,6,7,8,9,11,12,13,14,15,16,17,18,20,21,23,24;SGB=-0.693147;VDB=0.0274004	GT:DP:DV:PL	.	1/1:45:45:255,135,0	0/1:33:20:255,0,255	0/1:53:21:255,0,255	.	.	0/1:47:21:255,0,255	0/1:43:27:255,0,255	0/1:30:12:255,0,255	0/1:27:11:255,0,255	.	1/1:42:42:255,126,0	0/1:27:15:255,0,255	0/1:43:22:255,0,255	0/1:18:7:255,0,255	0/1:30:18:255,0,255	1/1:39:39:255,117,0	0/1:35:24:255,0,255	1/1:36:36:255,108,0	.	0/1:26:10:255,0,255	0/1:52:21:255,0,255	.	0/1:56:26:255,0,255	1/1:57:57:255,172,0	TGAG	TGAGGAG	5	14	Microvillus inclusion disease, 251850 (3)	.	Microvillus inclusion disease(CI1313084)	GGAAAAT^1055CTCctcATGAAGAAAG|c.3163_3165dupCTC(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24014347&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25111220&dopt=Abstract)	24014347|25111220|24014347|19006234|18724368|17507647|16214890|10574461|8884266|8855265	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS	PS1,PS3,BA1
L	21	43803308	rs34966432	C	CTA	222.86	PASS	TMPRSS3	transmembrane protease, serine 3	splicing	NM_001256317,NM_024022,NM_032404,NM_032405	NM_001256317:exon8:c.617-1->TA;NM_024022:exon8:c.617-1->TA;NM_032404:exon5:c.236-1->TA;NM_032405:exon8:c.617-1->TA	.	.	ENST00000474596.1,ENST00000398405.1,ENST00000433957.2,ENST00000380399.1,ENST00000291532.3,ENST00000398397.3	.	21q22.3	.	.	.	.	.	rs34966432	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000039363.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.322259	0.3145	0.173722	0.0908	0.1232	0.3107	0.298621633997	0.323317221154	.	.	.	.	.	.	.	.	.	.	1.486171,10.92	.	AC=16;AN=28;DP4=171,212,210,258;DP=1066;HOB=0.5;ICB=1;IDV=26;IMF=0.448276;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,7,8,9,10,11,13,16,18,20,24;SGB=-0.692831;VDB=0.00385863	GT:DP:DV:PL	0/1:45:24:255,0,255	.	0/1:62:37:255,0,255	0/1:67:31:255,0,255	1/1:56:56:255,169,0	.	.	0/1:69:28:255,0,255	0/1:62:33:255,0,255	0/1:55:27:255,0,255	1/1:57:57:255,172,0	0/1:51:23:255,0,255	.	0/1:82:39:255,0,255	.	.	0/1:49:21:255,0,255	.	0/1:53:25:255,0,255	.	0/1:72:34:255,0,255	.	.	.	0/1:71:33:255,0,255	CTAT	CTATAT	2	12	Deafness, autosomal recessive 8/10, 601072 (3)	.	Hearing loss, sensorineural(CI151992)	TCCCCTCCATatAG_IE_CC^207TGTGGT|c.617-3_617-2dupTA(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25770132&dopt=Abstract)	25770132|23255163|21454591|16021470|12920079|12393794|11907649|11462234|11424922|11137999	REGULATION_OF_BIOLOGICAL_QUALITY;MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;CELLULAR_CATION_HOMEOSTASIS;CELLULAR_MONOVALENT_INORGANIC_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	22	37465385	rs200434923	CTGGGG	C	157.07	PASS	TMPRSS6	transmembrane protease, serine 6	splicing	NM_001289000,NM_001289001,NM_153609	.	.	.	ENST00000406725.1,ENST00000381792.2,ENST00000346753.3,ENST00000406856.1	.	22q12.3	.	.	.	.	Score=354;Name="2879173:(GGGTG)n(Simple_repeat)"	rs200434923	.	.	0.450166	0.4266	0.448882	0.4608	0.1180	0.1373	.	0.461538283654	.	.	.	.	.	.	.	.	.	.	3.522456,17.99	.	AC=21;AN=30;DP4=21,0,71,6;DP=311;HOB=0.5;ICB=1;IDV=5;IMF=0.263158;MQ0F=0;MQ=60;MQSB=1;SF=0,2,5,6,7,10,11,15,16,19,20,21,22,23,24;SGB=-0.590765;VDB=0.0435222	GT:DP:DV:PL	1/1:5:5:211,15,0	.	1/1:7:7:255,21,0	.	.	0/1:10:8:246,0,58	0/1:6:4:153,0,93	1/1:4:4:185,12,0	.	.	1/1:5:5:224,15,0	0/1:5:3:137,0,73	.	.	.	0/1:3:2:101,0,23	1/1:5:5:198,15,0	.	.	0/1:3:2:101,0,51	0/1:10:5:174,0,172	0/1:8:5:184,0,111	0/1:7:6:218,0,39	1/1:11:11:255,33,0	0/1:9:5:182,0,127	CTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTG	CTGGGGTGGGGTGGGGTGGGGTGGGGTG	6	9	Iron-refractory iron deficiency anemia, 206200 (3)	.	Iron-refractory iron deficiency anaemia (IRIDA)(CS082002)	IVS15 as G-C -1|c.1869-1G>C(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=18408718&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=25525159&dopt=Abstract)	18408718|25525159|23554218|22581667|20940420|19592582|19357398|18596229|18451267|18408718|12149247	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	.	.	.	PS1,PS3,BA1
L	1	982735	rs577476031	G	A	222	PASS	AGRN	agrin	exonic	NM_001305275,NM_198576	.	synonymous SNV	AGRN:NM_198576:exon20:c.G3417A:p.E1139E	ENST00000379370.2	.	1p36.33	.	.	.	.	.	rs577476031	.	.	0.00166113	0.001	0.000199681	.	2.551e-05	0.0003	0.00166113	0.00166113	.	.	.	.	.	.	.	.	2.336	1.223	1.020012,10.78	3.16	AC=1;AN=2;BQB=0.165434;DP4=29,1,28,6;DP=84;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960876;SF=20;SGB=-0.693132;VDB=0.600357	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:34:255,0,255	.	.	.	.	G	A	0	1	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)	.	.	.	22205389|19631309|16630822|14502292|12796783|11349136|11323662|10402191|8653788|8653787|8653786|8653786|1851019|1659950|1326608	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;DEVELOPMENTAL_MATURATION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;GENERATION_OF_NEURONS;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;CELL_MATURATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;BASAL_LAMINA;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_METABOLISM_OF_CARBOHYDRATES	
L	1	990355	rs752905025	C	G	179	PASS	AGRN	agrin	exonic	NM_001305275,NM_198576	.	synonymous SNV	AGRN:NM_198576:exon36:c.C6132G:p.T2044T	ENST00000379370.2	CpG: 29	1p36.33	.	.	Score=727;Name=V$PAX4_04	.	.	rs752905025	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	-0.523	0.577	.	.	AC=1;AN=2;BQB=0.899815;DP4=3,3,2,5;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=1;RPB=0.961166;SF=20;SGB=-0.636426;VDB=0.648388	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:7:212,0,174	.	.	.	.	C	G	0	1	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)	.	.	.	22205389|19631309|16630822|14502292|12796783|11349136|11323662|10402191|8653788|8653787|8653786|8653786|1851019|1659950|1326608	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;DEVELOPMENTAL_MATURATION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;GENERATION_OF_NEURONS;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;CELL_MATURATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;BASAL_LAMINA;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_METABOLISM_OF_CARBOHYDRATES	PM2
L	1	1179358	.	C	T	222	PASS	FAM132A	family with sequence similarity 132, member A	exonic	NM_001014980	.	synonymous SNV	FAM132A:NM_001014980:exon4:c.G507A:p.L169L	ENST00000330388.2	.	1p36.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.271	1.856	.	4.03	AC=1;AN=2;BQB=0.537277;DP4=22,7,17,6;DP=75;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981462;SF=20;SGB=-0.692717;VDB=0.850737	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	1	1290495	.	C	G	222	PASS	MXRA8	matrix-remodelling associated 8	exonic	NM_001282582,NM_001282583,NM_001282584,NM_001282585,NM_032348	.	missense SNV	MXRA8:NM_001282584:exon4:c.G213C:p.E71D,MXRA8:NM_001282583:exon5:c.G489C:p.E163D,MXRA8:NM_001282585:exon5:c.G516C:p.E172D,MXRA8:NM_032348:exon5:c.G516C:p.E172D,MXRA8:NM_001282582:exon6:c.G516C:p.E172D	ENST00000309212.6,ENST00000342753.4,ENST00000445648.2,ENST00000477278.2	CpG: 152	1p36.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064,T	0.87,P	0.982,D	0.992172,N	0.002090,U	1.39,L	-0.19,T	5.6225	0.683	-0.239	2.258554,17.89	3.21	AC=1;AN=2;BQB=0.887816;DP4=14,8,9,7;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99466;SF=20;SGB=-0.689466;VDB=0.403377	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:16:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	1417587	rs181312132	C	T	222	PASS	ATAD3B	ATPase family, AAA domain containing 3B	exonic	NM_001317238,NM_031921	.	missense SNV	ATAD3B:NM_001317238:exon4:c.C446T:p.A149V,ATAD3B:NM_031921:exon6:c.C584T:p.A195V	ENST00000378741.3,ENST00000308647.7,ENST00000378736.3	CpG: 42	1p36.33	.	.	Score=902;Name=V$NF1_Q6	Score=0.905283;Name=chr1:1439902	.	rs181312132	.	.	0.0215947	0.0179	0.00459265	.	0.0026	0.0327	0.0229708960184	0.026442309375	0.004,D	0.99,D	1.0,D	1,D	0.000000,D	3.07,M	0.35,T	12.1407	1.339	7.201	5.211127,25.6	2.38	AC=1;AN=2;BQB=0.977678;DP4=17,13,18,18;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.220646;MQSB=0.728134;RPB=0.932641;SF=20;SGB=-0.693139;VDB=0.415734	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:36:255,0,255	.	.	.	.	C	T	0	1	ATPase family, AAA domain-containing, member 3B	.	.	.	18063578|17210950|16909202|12865426|10574462	.	.	.	.	.	.	.	PP3
L	1	1747257	rs200359185	C	T	222	PASS	GNB1	guanine nucleotide binding protein (G protein), beta polypeptide 1	exonic	NM_001282539,NM_002074	.	synonymous SNV	GNB1:NM_001282539:exon4:c.G141A:p.T47T,GNB1:NM_002074:exon5:c.G141A:p.T47T	ENST00000378609.4	.	1p36.33	.	.	Score=719;Name=V$HOX13_01	.	.	rs200359185	.	.	0.00664452	0.0069	0.00179712	.	0.0001	0.0017	0.00664452	0.00664452	.	.	.	.	.	.	.	.	-0.047	0.636	1.231037,11.91	.	AC=1;AN=2;BQB=0.317146;DP4=14,3,11,6;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994676;SF=20;SGB=-0.690438;VDB=0.722694	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:17:255,0,255	.	.	.	.	C	T	0	1	Guanine nucleotide-binding protein, beta polypeptide-1	.	.	.	16565360|12782285|10819326|9205110|3095147|3083416|2328987|1979057	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;RAS_PROTEIN_SIGNAL_TRANSDUCTION;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_TASTE_TRANSDUCTION	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_TXA2PATHWAY;PID_CXCR4_PATHWAY;PID_THROMBIN_PAR4_PATHWAY;PID_RHODOPSIN_PATHWAY;PID_IL8CXCR2_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_HEDGEHOG_GLIPATHWAY;PID_CXCR3PATHWAY;PID_THROMBIN_PAR1_PATHWAY;PID_IL8CXCR1_PATHWAY	BIOCARTA_CSK_PATHWAY;BIOCARTA_SPPA_PATHWAY;BIOCARTA_AGPCR_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_CCR3_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_CXCR4_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_FMLP_PATHWAY;BIOCARTA_MPR_PATHWAY;BIOCARTA_EDG1_PATHWAY;BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_BARR_MAPK_PATHWAY;BIOCARTA_BARRESTIN_SRC_PATHWAY;BIOCARTA_GPCR_PATHWAY;BIOCARTA_BARRESTIN_PATHWAY;BIOCARTA_PAR1_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_G_PROTEIN_ACTIVATION;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_INHIBITION_OF_INSULIN_SECRETION_BY_ADRENALINE_NORADRENALINE;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_ADP_SIGNALLING_THROUGH_P2RY1;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PLC_BETA;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING;REACTOME_SIGNAL_AMPLIFICATION;REACTOME_THROMBOXANE_SIGNALLING_THROUGH_TP_RECEPTOR;REACTOME_ADP_SIGNALLING_THROUGH_P2RY12;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_GPCR_LIGAND_BINDING;REACTOME_THROMBIN_SIGNALLING_THROUGH_PROTEINASE_ACTIVATED_RECEPTORS_PARS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_PROSTACYCLIN_SIGNALLING_THROUGH_PROSTACYCLIN_RECEPTOR;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_INHIBITION_OF_VOLTAGE_GATED_CA2_CHANNELS_VIA_GBETA_GAMMA_SUBUNITS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_HEMOSTASIS;REACTOME_POTASSIUM_CHANNELS;REACTOME_INWARDLY_RECTIFYING_K_CHANNELS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	1	2322952	.	G	A	222	PASS	MORN1	MORN repeat containing 1	exonic	NM_001301060,NM_024848	.	synonymous SNV	MORN1:NM_001301060:exon1:c.C21T:p.G7G,MORN1:NM_024848:exon1:c.C21T:p.G7G	ENST00000378531.3,ENST00000606372.1,ENST00000378529.3	CpG: 146	1p36.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.182	-0.073	.	.	AC=1;AN=2;BQB=0.50151;DP4=9,12,11,12;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.90515;SF=20;SGB=-0.692717;VDB=0.494446	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:23:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	3809528	rs35157037	C	T	221.75	PASS	C1orf174	chromosome 1 open reading frame 174	exonic	NM_207356	.	synonymous SNV	C1orf174:NM_207356:exon2:c.G48A:p.L16L	ENST00000361605.3,ENST00000486765.1	.	1p36.32	.	.	.	.	.	rs35157037	.	.	0.0498339	0.0486	0.0311502	0.0175	0.0141	0.0404	0.0428790160796	0.0456730838942	.	.	.	.	.	.	.	.	-0.454	-0.052	.	.	AC=4;AN=8;BQB=0.866503;DP4=35,43,26,35;DP=192;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.234416;SF=2,4,14,20;SGB=-0.680642;VDB=0.0924411	GT:DP:DV:PL	.	.	0/1:37:12:255,0,255	.	0/1:33:15:255,0,225	.	.	.	.	.	.	.	.	.	0/1:30:12:255,0,255	.	.	.	.	.	0/1:39:22:255,0,255	.	.	.	.	C	T	0	4	.	.	.	.		.	.	.	.	.	.	.	
M	1	7890024	rs201662971	T	G	151.53	PASS	PER3	period circadian clock 3	exonic	NM_001289862,NM_001289864,NM_016831	.	missense SNV	PER3:NM_001289862:exon19:c.T3017G:p.M1006R,PER3:NM_001289864:exon19:c.T2057G:p.M686R,PER3:NM_016831:exon19:c.T2990G:p.M997R	ENST00000361923.2,ENST00000377532.3	.	1p36.23	.	.	.	.	.	rs201662971	.	.	.	.	.	.	8.727e-06	0	.	0.0391304	0.332,T	0.0,B	0.0,B	1,N	0.031022,N	0,N	2.49,T	.	-1.402	-1.045	.	.	AC=20;AN=40;BQB=0.935998;DP4=561,394,174,152;DP=1614;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.924831;MQSB=0.720042;RPB=1.08326e-08;SF=2,3,4,5,6,8,9,10,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=7.24903e-06	GT:DP:DV:PL	.	.	0/1:61:18:226,0,255	0/1:57:8:61,0,255	0/1:55:10:101,0,255	0/1:85:21:224,0,255	0/1:75:18:206,0,255	.	0/1:47:17:255,0,255	0/1:57:20:255,0,255	0/1:65:13:152,0,255	.	0/1:53:11:143,0,255	0/1:71:22:253,0,255	.	0/1:76:15:147,0,255	0/1:75:20:206,0,255	0/1:51:8:76,0,255	0/1:59:17:214,0,255	0/1:59:20:241,0,255	0/1:51:10:136,0,255	0/1:91:25:225,0,255	0/1:23:8:160,0,255	0/1:90:23:193,0,255	0/1:80:22:242,0,255	T	G	0	20	.	.	.	.		.	.	.	KEGG_CIRCADIAN_RHYTHM_MAMMAL	.	.	.	
M	1	7890026	rs199947375	A	G	151.31	PASS	PER3	period circadian clock 3	exonic	NM_001289862,NM_001289864,NM_016831	.	missense SNV	PER3:NM_001289862:exon19:c.A3019G:p.K1007E,PER3:NM_001289864:exon19:c.A2059G:p.K687E,PER3:NM_016831:exon19:c.A2992G:p.K998E	ENST00000361923.2,ENST00000377532.3	.	1p36.23	.	.	.	.	.	rs199947375	.	.	.	.	.	.	.	.	.	0.0304348	0.89,T	0.0,B	0.0,B	1,N	0.012011,N	0,N	2.58,T	.	-0.911	-0.844	.	.	AC=19;AN=38;BQB=0.824184;DP4=568,365,165,141;DP=1546;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.989847;MQSB=0.684093;RPB=1.12254e-08;SF=2,3,4,5,6,8,9,10,12,13,15,16,18,19,20,21,22,23,24;SGB=-0.691153;VDB=2.55391e-08	GT:DP:DV:PL	.	.	0/1:58:18:244,0,255	0/1:52:8:75,0,255	0/1:54:10:114,0,255	0/1:89:20:202,0,255	0/1:77:17:188,0,255	.	0/1:56:17:255,0,255	0/1:54:20:255,0,255	0/1:63:15:182,0,255	.	0/1:59:15:182,0,255	0/1:74:20:230,0,255	.	0/1:68:16:177,0,255	0/1:73:15:160,0,255	.	0/1:55:16:213,0,255	0/1:60:18:207,0,255	0/1:51:11:149,0,255	0/1:93:23:201,0,255	0/1:25:7:139,0,255	0/1:95:20:148,0,255	0/1:83:20:207,0,255	A	G	0	19	.	.	.	.		.	.	.	KEGG_CIRCADIAN_RHYTHM_MAMMAL	.	.	.	
L	1	8420270	rs148981427	G	A	222	PASS	RERE	arginine-glutamic acid dipeptide (RE) repeats	exonic	NM_001042681,NM_001042682,NM_012102	.	synonymous SNV	RERE:NM_001042682:exon8:c.C1635T:p.D545D,RERE:NM_001042681:exon18:c.C3297T:p.D1099D,RERE:NM_012102:exon19:c.C3297T:p.D1099D	ENST00000476556.1,ENST00000377464.1,ENST00000337907.3,ENST00000400908.2,ENST00000400907.2	.	1p36.23	.	.	.	.	.	rs148981427	.	.	0	0.001	0.00219649	0.0024	0.0062	0.0028	.	0.00434783	.	.	.	.	.	.	.	.	-1.904	-0.029	.	.	AC=1;AN=2;BQB=0.696988;DP4=13,6,14,8;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.925985;SF=20;SGB=-0.692562;VDB=0.265537	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:22:255,0,255	.	.	.	.	G	A	0	1	RE repeats-encoding gene	.	.	.	20164929|10814707|10729226	NUCLEAR_IMPORT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_IMPORT;PROTEIN_IMPORT_INTO_NUCLEUS;MACROMOLECULE_LOCALIZATION;TRANSPORT;NLS_BEARING_SUBSTRATE_IMPORT_INTO_NUCLEUS;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	.	.	.	.	.	.	
H	1	9107723	rs540177172	C	T	222	PASS	SLC2A5	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	exonic	NM_001135585,NM_003039	.	missense SNV	SLC2A5:NM_001135585:exon4:c.G364A:p.A122T,SLC2A5:NM_003039:exon4:c.G364A:p.A122T	ENST00000377414.3,ENST00000535586.1,ENST00000377424.4,ENST00000536305.1	.	1p36.23	.	.	.	.	.	rs540177172	.	.	.	.	.	.	4.118e-05	0.0006	.	.	0.03,D	0.985,D	1.0,D	0.999999,D	0.000005,D	2.75,M	-0.06,T	12.6364	1.220	4.161	6.224442,28.8	4.36	AC=1;AN=2;BQB=0.86388;DP4=9,2,13,4;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.91428;SF=20;SGB=-0.690438;VDB=0.0563698	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:17:255,0,255	.	.	.	.	C	T	0	1	Solute carrier family 2 (facilitated glucose transporter), member 5	.	.	.	26416735|9691177|1695905|1634504|1550217	ESTABLISHMENT_OF_LOCALIZATION;CARBOHYDRATE_TRANSPORT;TRANSPORT;CARBOHYDRATE_METABOLIC_PROCESS	MEMBRANE;PLASMA_MEMBRANE	SUGAR_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;MONOSACCHARIDE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CARBOHYDRATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_FACILITATIVE_NA_INDEPENDENT_GLUCOSE_TRANSPORTERS;REACTOME_METABOLISM_OF_CARBOHYDRATES	PP3
L	1	10386367	rs150831576	C	T	222	PASS	KIF1B	kinesin family member 1B	exonic	NM_015074	.	synonymous SNV	KIF1B:NM_015074:exon25:c.C2736T:p.D912D	ENST00000377086.1,ENST00000263934.6,ENST00000377081.1	CpG: 18	1p36.22	.	.	.	.	.	rs150831576	.	.	0.0116279	0.0109	0.00219649	0.0002	0.0017	0.0190	0.0160796488515	0.0168269228365	.	.	.	.	.	.	.	.	-0.641	-0.368	1.471269,13.16	.	AC=1;AN=2;BQB=0.812484;DP4=33,20,23,19;DP=133;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.351393;SF=20;SGB=-0.693146;VDB=0.073948	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:95:42:255,0,255	.	.	.	.	C	T	0	1	?Charcot-Marie-Tooth disease, type 2A1, 118210 (3); Pheochromocytoma, 171300 (3); {Neuroblastoma, susceptibility to, 1}, 256700 (3)	.	.	.	25802885|19503091|18726616|18334619|15479732|15064763|11526494|11389829|9409358|8854876|7528108	ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;CELLULAR_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_MOVEMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	ORGANELLE_PART;CYTOPLASMIC_VESICLE_MEMBRANE;MICROTUBULE_ASSOCIATED_COMPLEX;MEMBRANE_BOUND_VESICLE;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;VESICLE;CYTOSKELETAL_PART;ORGANELLE_MEMBRANE;CYTOSKELETON;CYTOPLASMIC_VESICLE;CYTOPLASMIC_VESICLE_PART;ENDOMEMBRANE_SYSTEM;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;VESICLE_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;MICROTUBULE_MOTOR_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;MOTOR_ACTIVITY;ATPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	
H	1	10435092	.	G	C	222	PASS	KIF1B	kinesin family member 1B	exonic	NM_015074	.	missense SNV	KIF1B:NM_015074:exon45:c.G5139C:p.Q1713H	ENST00000377086.1,ENST00000263934.6,ENST00000377081.1	.	1p36.22	.	.	Score=864;Name=V$OCT1_06	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04,D	0.264,B	0.729,P	1,D	0.000000,D	2.785,M	2.68,T	12.6663	2.567	8.061	6.211829,28.7	5.47	AC=1;AN=2;BQB=0.715111;DP4=2,7,6,8;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992095;SF=20;SGB=-0.686358;VDB=0.476416	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:14:255,0,214	.	.	.	.	G	C	0	1	?Charcot-Marie-Tooth disease, type 2A1, 118210 (3); Pheochromocytoma, 171300 (3); {Neuroblastoma, susceptibility to, 1}, 256700 (3)	.	.	.	25802885|19503091|18726616|18334619|15479732|15064763|11526494|11389829|9409358|8854876|7528108	ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;CELLULAR_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_MOVEMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	ORGANELLE_PART;CYTOPLASMIC_VESICLE_MEMBRANE;MICROTUBULE_ASSOCIATED_COMPLEX;MEMBRANE_BOUND_VESICLE;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;VESICLE;CYTOSKELETAL_PART;ORGANELLE_MEMBRANE;CYTOSKELETON;CYTOPLASMIC_VESICLE;CYTOPLASMIC_VESICLE_PART;ENDOMEMBRANE_SYSTEM;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;VESICLE_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;MICROTUBULE_MOTOR_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;MOTOR_ACTIVITY;ATPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	PM2,PP3
L	1	10555372	rs144664869	G	A	93	PASS	PEX14	peroxisomal biogenesis factor 14	exonic	NM_004565	.	synonymous SNV	PEX14:NM_004565:exon2:c.G78A:p.E26E	ENST00000356607.4,ENST00000538836.1	.	1p36.22	.	.	.	.	.	rs144664869	.	.	0.0149502	0.0198	0.00399361	.	0.0020	0.0263	0.0229708946401	0.0216346302885	.	.	.	.	.	.	.	.	0.588	1.636	1.069960,11.05	.	AC=1;AN=2;BQB=0.666643;DP4=3,2,1,4;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.952347;MQSB=1.00775;RPB=0.857112;SF=20;SGB=-0.590765;VDB=0.130743	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:5:126,0,175	.	.	.	.	G	A	0	1	Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)	.	.	.	18285423|15146459|11863372|10022913|9653144|9094717	RNA_METABOLIC_PROCESS;PROTEIN_OLIGOMERIZATION;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;REGULATION_OF_DNA_BINDING;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PEROXISOME_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_MOLECULAR_FUNCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;PROTEIN_TARGETING;PROTEIN_IMPORT;REGULATION_OF_GENE_SPECIFIC_TRANSCRIPTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NEGATIVE_REGULATION_OF_DNA_BINDING;CELLULAR_COMPONENT_ASSEMBLY;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_BINDING;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;PROTEIN_HOMOOLIGOMERIZATION;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;REGULATION_OF_RNA_METABOLIC_PROCESS;PROTEIN_TRANSPORT;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_BINDING	ORGANELLE_PART;PEROXISOMAL_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;ORGANELLE_MEMBRANE;PEROXISOMAL_PART;MICROBODY_MEMBRANE;MICROBODY_PART;INTRACELLULAR_ORGANELLE_PART;MICROBODY;PEROXISOME	PROTEIN_N_TERMINUS_BINDING;TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_PEROXISOME	.	.	.	
H	1	11007839	rs370862831	G	A	222	PASS	C1orf127	chromosome 1 open reading frame 127	exonic	NM_001170754	.	missense SNV	C1orf127:NM_001170754:exon12:c.C2353T:p.R785W	ENST00000377004.4,ENST00000377008.4	.	1p36.22	.	.	.	.	.	rs370862831	.	.	0	.	0.000199681	0.0002	5.907e-05	0.0002	.	.	0.002,D	0.436,B	0.996,D	1,N	0.247723,N	0.55,N	1.51,T	11.6413	2.443	0.747	5.687296,26.8	3.87	AC=1;AN=2;BQB=0.75786;DP4=27,7,25,4;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.884065;SF=20;SGB=-0.693079;VDB=0.786557	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:29:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	1	11115061	rs11540046	G	A	205.38	PASS	SRM	spermidine synthase	exonic	NM_003132	.	synonymous SNV	SRM:NM_003132:exon7:c.C846T:p.D282D	ENST00000376957.2	.	1p36.22	.	.	.	.	.	rs11540046	.	.	0.0415282	0.0417	0.0335463	0.0007	0.0187	0.0396	0.0497702826953	0.0408653466346	.	.	.	.	.	.	.	.	-1.332	-1.788	1.114411,11.29	.	AC=8;AN=16;BQB=0.999816;DP4=89,31,79,40;DP=352;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977979;SF=0,3,8,9,13,18,20,24;SGB=-0.69168;VDB=0.932062	GT:DP:DV:PL	0/1:32:19:255,0,255	.	.	0/1:22:14:255,0,203	.	.	.	.	0/1:19:8:189,0,255	0/1:19:10:225,0,254	.	.	.	0/1:44:20:255,0,255	.	.	.	.	0/1:32:13:219,0,255	.	0/1:30:14:255,0,255	.	.	.	0/1:41:21:255,0,255	G	A	0	8	Spermidine synthase-1	.	.	.	2344393|2069720	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYLOTHER_THAN_METHYLGROUPS	KEGG_CYSTEINE_AND_METHIONINE_METABOLISM;KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_BETA_ALANINE_METABOLISM;KEGG_GLUTATHIONE_METABOLISM	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_METABOLISM_OF_POLYAMINES	
L	1	11134043	rs117771172	C	T	195.75	PASS	EXOSC10	exosome component 10	exonic	NM_001001998	.	missense SNV	EXOSC10:NM_001001998:exon19:c.G2105A:p.R702H	ENST00000376936.4,ENST00000304457.7,ENST00000544779.1	.	1p36.22	.	.	.	.	.	rs117771172	.	.	0.0415282	0.0417	0.0333466	0.0007	0.0184	0.0393	0.0497702826953	0.0408653466346	0.184,T	0.001,B	0.002,B	1,N	0.744762,N	0.4,N	.	10.8653	-0.852	-0.649	.	.	AC=8;AN=16;BQB=0.958048;DP4=72,32,55,28;DP=260;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.518176;SF=0,3,8,9,13,18,20,24;SGB=-0.688148;VDB=0.0574696	GT:DP:DV:PL	0/1:27:15:255,0,255	.	.	0/1:19:8:230,0,255	.	.	.	.	0/1:19:9:237,0,255	0/1:16:5:139,0,255	.	.	.	0/1:26:10:255,0,255	.	.	.	.	0/1:27:9:206,0,255	.	0/1:25:14:255,0,255	.	.	.	0/1:28:13:255,0,255	C	T	0	8	Exosome component 10	.	.	.	1644924|1383382	.	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_RNA_DEGRADATION	.	.	.	
L	1	11158105	rs62623443	C	T	207.12	PASS	EXOSC10	exosome component 10	exonic	NM_001001998,NM_002685	.	missense SNV	EXOSC10:NM_001001998:exon2:c.G220A:p.E74K,EXOSC10:NM_002685:exon2:c.G220A:p.E74K	ENST00000376936.4,ENST00000304457.7,ENST00000544779.1	.	1p36.22	.	.	Score=825;Name=V$CEBP_C	.	.	rs62623443	.	.	0.0415282	0.0417	0.0345447	0.0018	0.0191	0.0395	0.0497702826953	0.0408653466346	0.193,T	0.053,B	0.048,B	0.999999,D	0.000005,N	1.97,M	.	11.8875	1.431	4.524	3.419873,23.0	4.82	AC=8;AN=16;BQB=0.942086;DP4=86,23,105,11;DP=304;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.851276;SF=0,3,8,9,13,18,20,24;SGB=-0.689466;VDB=0.16114	GT:DP:DV:PL	0/1:27:16:255,0,255	.	.	0/1:32:16:255,0,255	.	.	.	.	0/1:23:10:183,0,255	0/1:21:10:227,0,255	.	.	.	0/1:32:21:255,0,231	.	.	.	.	0/1:23:11:236,0,255	.	0/1:37:17:255,0,255	.	.	.	0/1:30:15:255,0,255	C	T	0	8	Exosome component 10	.	.	.	1644924|1383382	.	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_RNA_DEGRADATION	.	.	.	
L	1	11272468	rs17036536	C	G	209.38	PASS	MTOR	mechanistic target of rapamycin (serine/threonine kinase)	exonic	NM_004958	.	synonymous SNV	MTOR:NM_004958:exon23:c.G3462C:p.R1154R	ENST00000361445.4	.	1p36.22	.	.	Score=893;Name=V$CDPCR3HD_01	.	.	rs17036536	.	.	0.0415282	0.0417	0.0321486	0.0007	0.0180	0.0395	0.0497702826953	0.0408653466346	.	.	.	.	.	.	.	.	-0.344	-0.248	1.260402,12.06	.	AC=8;AN=16;BQB=0.708895;DP4=65,55,45,63;DP=309;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.306895;SF=0,3,8,9,13,18,20,24;SGB=-0.688148;VDB=0.378091	GT:DP:DV:PL	0/1:27:15:255,0,255	.	.	0/1:32:11:214,0,255	.	.	.	.	0/1:25:9:196,0,255	0/1:22:15:255,0,168	.	.	.	0/1:20:9:255,0,255	.	.	.	.	0/1:31:12:255,0,255	.	0/1:34:20:255,0,255	.	.	.	0/1:37:17:255,0,255	C	G	0	8	Smith-Kingsmore syndrome, 616638 (3)	.	.	.	26299971|25851998|25567907|25567906|25561175|25288394|25055867|25043031|24870234|23953116|23812589|23723238|23636326|23429704|23429703|23263183|23109424|22729223|22722868|22552098|22461615|22367541|22193387|22053050|21659605|21659604|21562563|21512002|21252315|21179166|20933441|20724638|20526321|20508131|20498635|20203043|20060330|19587680|19553991|19543266|19538929|19505958|19008302|18988856|18787170|18497260|18360828|18046414|17991864|17244528|17023663|16946053|16946053|16915281|16900101|16690869|16286006|15797377|15718470|15545625|15485918|15467718|15314020|15296714|15268862|15254238|15146184|14668850|14534328|12718876|12150926|12150925|12080086|11729323|11691993|11602639|9653645|9099849|8660990|8008069|7518356	REGULATION_OF_BIOLOGICAL_QUALITY;BIOPOLYMER_CATABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;GROWTH;PROTEIN_CATABOLIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PHOSPHORYLATION;CATABOLIC_PROCESS	MEMBRANE;CYTOPLASM	KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_PATHWAYS_IN_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_ACUTE_MYELOID_LEUKEMIA	PID_IL4_2PATHWAY;PID_MET_PATHWAY;PID_IL12_2PATHWAY;PID_CDC42_PATHWAY;PID_LKB1_PATHWAY;PID_TELOMERASEPATHWAY;PID_MTOR_4PATHWAY;PID_CXCR4_PATHWAY;PID_IL2_PI3KPATHWAY;PID_IFNGPATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_ERBB2ERBB3PATHWAY;PID_CXCR3PATHWAY;PID_PI3KCIAKTPATHWAY	BIOCARTA_BCELLSURVIVAL_PATHWAY;BIOCARTA_CTCF_PATHWAY;BIOCARTA_MTOR_PATHWAY;BIOCARTA_EIF4_PATHWAY;BIOCARTA_IGF1MTOR_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_PI3K_AKT_ACTIVATION;REACTOME_GAB1_SIGNALOSOME;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_CD28_CO_STIMULATION;REACTOME_COSTIMULATION_BY_THE_CD28_FAMILY;REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_IMMUNE_SYSTEM;REACTOME_MTORC1_MEDIATED_SIGNALLING;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PIP3_ACTIVATES_AKT_SIGNALING;REACTOME_SIGNALING_BY_FGFR;REACTOME_PI3K_CASCADE	
L	1	12854356	rs61775051	T	C	140.69	PASS	PRAMEF1	PRAME family member 1	exonic	NM_023013	.	missense SNV	PRAMEF1:NM_023013:exon3:c.T580C:p.Y194H	ENST00000332296.7	.	1p36.21	.	.	.	Score=0.957905;Name=chr1:13438229	.	rs61775051	.	.	.	.	.	.	0.0067	0.0156	.	0.13913	0.02,D	0.006,B	0.004,B	1,N	0.774313,N	0.42,N	2.5,T	3.7512	0.121	0.384	.	.	AC=18;AN=36;BQB=0.982145;DP4=518,211,267,195;DP=1517;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=5.74083e-08;MQSB=0.334154;RPB=0.0620626;SF=1,2,4,5,6,7,8,11,13,14,16,17,19,20,21,22,23,24;SGB=-0.690438;VDB=0.0554653	GT:DP:DV:PL	.	0/1:51:17:123,0,255	0/1:66:43:242,0,255	.	0/1:64:35:255,0,255	0/1:49:17:167,0,255	0/1:76:29:180,0,255	0/1:81:24:167,0,255	0/1:62:19:142,0,255	.	.	0/1:38:21:206,0,255	.	0/1:61:19:101,0,255	0/1:75:41:255,0,255	.	0/1:107:53:255,0,255	0/1:67:21:159,0,255	.	0/1:38:17:152,0,255	0/1:80:22:161,0,255	0/1:102:18:57,0,255	0/1:39:17:182,0,255	0/1:56:20:156,0,255	0/1:79:29:190,0,255	T	C	0	18	.	.	.	.		.	.	.	.	.	.	.	
L	1	13716842	rs200830320	G	A	145.43	PASS	PRAMEF17	PRAME family member 17	exonic	NM_001099851	.	missense SNV	PRAMEF17:NM_001099851:exon2:c.G329A:p.G110E	ENST00000376098.4	.	1p36.21	.	.	.	Score=0.999089;Name=chr1:13386377	.	rs200830320	.	.	.	.	.	.	0.0135	0.0315	.	.	0.884,T	0.0,B	0.0,B	1,P	0.114819,N	-1.975,N	0.94,T	4.3852	-0.629	-0.013	.	.	AC=8;AN=14;BQB=0.517802;DP4=131,27,96,31;DP=366;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.40342;MQSB=0.428935;RPB=0.932611;SF=1,5,10,14,20,21,24;SGB=-0.686358;VDB=0.539527	GT:DP:DV:PL	.	0/1:42:14:138,0,237	.	.	.	0/1:54:22:187,0,255	.	.	.	.	0/1:37:13:163,0,205	.	.	.	0/1:30:11:101,0,238	.	.	.	.	.	0/1:45:18:192,0,248	0/1:53:25:224,0,255	.	.	1/1:24:24:241,72,0	G	A	1	6	.	.	.	.		.	.	.	.	.	.	.	
L	1	16577336	rs200284191	T	C	222	PASS	FBXO42	F-box protein 42	exonic	NM_018994	.	synonymous SNV	FBXO42:NM_018994:exon10:c.A1983G:p.K661K	ENST00000375592.3	.	1p36.13	.	.	.	.	.	rs200284191	.	.	0.0166113	0.0169	0.00339457	.	0.0006	0.0087	0.0166113	0.0166113	.	.	.	.	.	.	.	.	-0.620	-0.164	.	.	AC=1;AN=2;BQB=0.226281;DP4=23,7,21,10;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.479872;SF=20;SGB=-0.69311;VDB=0.243262	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:31:255,0,255	.	.	.	.	T	C	0	1	F-box only protein 42	.	.	.	19509332|15520277|10718198	.	.	.	.	.	.	.	
L	1	16912063	rs200576956	T	A	29.91	PASS	NBPF1	neuroblastoma breakpoint family, member 1	exonic	NM_017940	.	unknown	UNKNOWN	ENST00000430580.2	.	1p36.13	.	.	.	Score=0.969089;Name=chr1:16912274	.	rs200576956	.	.	.	.	.	.	0.0249	0.0137	.	.	.	.	.	.	.	.	.	.	-0.491	-0.435	1.810091,15.05	.	AC=1;AN=2;BQB=0.994858;DP4=24,14,9,1;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.133846;MQSB=0.248711;RPB=0.245698;SF=20;SGB=-0.670168;VDB=0.0436922	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:10:65,0,255	.	.	.	.	T	A	0	1	Neuroblastoma breakpoint family, member 1	.	.	.	21030649|16079250|11214970	.	.	.	.	.	.	.	
L	1	16918454	rs9730079	G	A	149.84	PASS	NBPF1	neuroblastoma breakpoint family, member 1	exonic	NM_017940	.	unknown	UNKNOWN	ENST00000430580.2	.	1p36.13	.	.	.	Score=0.969089;Name=chr1:16905978	.	rs9730079	.	.	.	.	.	.	0.0002	0.0013	.	0.352174	.	.	.	.	.	.	.	.	-0.223	-0.431	.	.	AC=15;AN=30;BQB=0.00117206;DP4=1467,1252,535,639;DP=5062;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=1.52333e-29;MQSB=0.995037;RPB=0.566551;SF=1,2,3,7,8,9,10,11,12,13,14,17,20,21,24;SGB=-0.693147;VDB=0.126598	GT:DP:DV:PL	.	0/1:250:86:255,0,255	0/1:260:71:183,0,255	0/1:267:73:166,0,255	.	.	.	0/1:296:99:232,0,255	0/1:282:75:126,0,255	0/1:204:43:97,0,255	0/1:282:98:248,0,255	0/1:279:117:255,0,255	0/1:223:90:255,0,255	0/1:222:47:84,0,255	0/1:248:56:77,0,255	.	.	0/1:202:69:255,0,255	.	.	0/1:256:93:255,0,255	0/1:338:74:109,0,255	.	.	0/1:284:83:173,0,255	G	A	0	15	Neuroblastoma breakpoint family, member 1	.	.	.	21030649|16079250|11214970	.	.	.	.	.	.	.	
L	1	16918457	rs9730080	G	C	154.01	PASS	NBPF1	neuroblastoma breakpoint family, member 1	exonic	NM_017940	.	unknown	UNKNOWN	ENST00000430580.2	.	1p36.13	.	.	.	Score=0.969089;Name=chr1:16905978	.	rs9730080	.	.	.	.	.	.	0.0002	0.0012	.	0.352174	.	.	.	.	.	.	.	.	0.572	0.868	2.296235,18.14	.	AC=15;AN=30;BQB=0.0121077;DP4=1418,1252,529,648;DP=4981;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=7.6044e-29;MQSB=0.913613;RPB=0.479818;SF=1,2,3,7,8,9,10,11,12,13,14,17,20,21,24;SGB=-0.693147;VDB=0.191383	GT:DP:DV:PL	.	0/1:247:85:255,0,255	0/1:260:72:188,0,255	0/1:268:75:156,0,255	.	.	.	0/1:295:102:248,0,255	0/1:284:77:172,0,255	0/1:203:45:119,0,255	0/1:281:98:255,0,255	0/1:272:117:255,0,255	0/1:219:90:255,0,255	0/1:214:47:97,0,255	0/1:244:57:91,0,255	.	.	0/1:200:66:255,0,255	.	.	0/1:255:92:255,0,255	0/1:328:74:57,0,255	.	.	0/1:277:80:174,0,255	G	C	0	15	Neuroblastoma breakpoint family, member 1	.	.	.	21030649|16079250|11214970	.	.	.	.	.	.	.	
L	1	17266514	rs141271666	C	T	221	PASS	CROCC	ciliary rootlet coiled-coil, rootletin	exonic	NM_014675	.	synonymous SNV	CROCC:NM_014675:exon13:c.C1734T:p.D578D	ENST00000467938.1,ENST00000375541.5	.	1p36.13	.	.	.	Score=0.938224;Name=chr1:16945458	.	rs141271666	.	.	0.00664452	0.004	0.00219649	0.0049	0.0076	0.0018	0.00664452	0.00664452	.	.	.	.	.	.	.	.	-2.440	-5.022	.	.	AC=1;AN=2;BQB=0.575577;DP4=47,18,24,4;DP=124;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980818;SF=20;SGB=-0.693054;VDB=0.0929735	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:28:255,0,255	.	.	.	.	C	T	0	1	Ciliary rootlet coiled-coil protein	.	.	.	16339073|16203858|12427867|9455477	CENTROSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;CELL_PROJECTION_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CELL_PROJECTION;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	
L	1	17272037	rs142404824	G	A	220	PASS	CROCC	ciliary rootlet coiled-coil, rootletin	exonic	NM_014675	.	missense SNV	CROCC:NM_014675:exon15:c.G2072A:p.R691H	ENST00000467938.1,ENST00000375541.5	.	1p36.13	.	.	.	Score=0.938224;Name=chr1:16945458	.	rs142404824	.	.	.	.	.	.	0.0418	0.0018	.	.	0.131,T	0.226,B	0.811,P	1,N	.	0.345,N	2.81,T	4.9211	0.298	-0.033	.	.	AC=1;AN=2;BQB=0.699479;DP4=46,55,15,16;DP=181;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.266382;MQSB=0.745285;RPB=0.531321;SF=20;SGB=-0.69311;VDB=7.85405e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:132:31:255,0,255	.	.	.	.	G	A	0	1	Ciliary rootlet coiled-coil protein	.	.	.	16339073|16203858|12427867|9455477	CENTROSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;CELL_PROJECTION_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CELL_PROJECTION;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	
L	1	17280776	rs553198001	G	T	194	PASS	CROCC	ciliary rootlet coiled-coil, rootletin	exonic	NM_014675	.	missense SNV	CROCC:NM_014675:exon22:c.G3245T:p.R1082L	ENST00000467938.1,ENST00000375541.5	.	1p36.13	.	.	.	Score=0.938224;Name=chr1:16945458	.	rs553198001	.	.	0.00332226	0.003	0.000599042	.	8.339e-05	0.0010	0.00332226	0.00332226	0.231,T	0.066,B	0.15,B	0.959727,N	.	0,N	0.77,T	11.9683	-0.773	0.531	2.326100,18.34	.	AC=1;AN=2;BQB=0.708895;DP4=15,0,10,2;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.876998;MQSB=0.84;RPB=0.156072;SF=20;SGB=-0.680642;VDB=0.0787609	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:227,0,231	.	.	.	.	G	T	0	1	Ciliary rootlet coiled-coil protein	.	.	.	16339073|16203858|12427867|9455477	CENTROSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;CELL_PROJECTION_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CELL_PROJECTION;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	
H	1	19166823	rs200812417	C	T	222	PASS	TAS1R2	taste receptor, type 1, member 2	exonic	NM_152232	.	missense SNV	TAS1R2:NM_152232:exon6:c.G1790A:p.R597H	ENST00000375371.3	.	1p36.13	.	.	.	.	.	rs200812417	.	.	0.0149502	0.0109	0.00219649	.	0.0007	0.0101	0.0114854688515	0.0120192563702	0.002,D	1.0,D	1.0,D	0.770329,D	0.000103,D	3.265,M	-2.54,D	8.628	1.315	2.609	5.564786,26.4	4.56	AC=1;AN=2;BQB=0.674523;DP4=16,9,15,15;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.949736;SF=20;SGB=-0.693097;VDB=0.927314	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:30:255,0,255	.	.	.	.	C	T	0	1	Taste receptor type 1, member 2	.	.	.	17724330|16633339|16229975|16103917|15353592|14636554|12856281|11509186	DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;SENSORY_PERCEPTION_OF_TASTE;DETECTION_OF_STIMULUS;DETECTION_OF_CHEMICAL_STIMULUS;RESPONSE_TO_CHEMICAL_STIMULUS;SENSORY_PERCEPTION;SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	TASTE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_TASTE_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	PP3
H	1	19493520	rs141400758	T	G	222	PASS	UBR4	ubiquitin protein ligase E3 component n-recognin 4	exonic	NM_020765	.	missense SNV	UBR4:NM_020765:exon29:c.A4105C:p.N1369H	ENST00000375267.2,ENST00000375217.2,ENST00000375226.2,ENST00000375254.3	.	1p36.13	.	.	.	.	.	rs141400758	.	.	0.0232558	0.0238	0.00539137	0.0003	0.0023	0.0302	0.0232558	0.0228365199519	0.139,T	0.205,B	0.41,B	0.853876,D	0.001258,N	0,N	-0.12,T	7.12	0.948	3.173	1.668075,14.23	4.53	AC=1;AN=2;BQB=0.645963;DP4=6,3,12,1;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934777;SF=20;SGB=-0.683931;VDB=0.223892	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:13:255,0,228	.	.	.	.	T	G	0	1	Ubiquitin protein ligase E3 component n-recognin 4	.	.	.	23982692|16214886|16061792|10718198	.	.	.	.	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	
L	1	22307385	rs750058511	C	T	73	PASS	CELA3B	chymotrypsin-like elastase family, member 3B	exonic	NM_007352	.	synonymous SNV	CELA3B:NM_007352:exon3:c.C198T:p.D66D	ENST00000337107.6	.	1p36.12	.	.	Score=795;Name=V$PAX2_01	Score=0.966191;Name=chr1:22319648	.	rs750058511	.	.	.	.	.	.	0.0009	0.0105	.	0.0130435	.	.	.	.	.	.	.	.	2.549	-0.122	.	5.15	AC=2;AN=4;BQB=0.489151;DP4=37,4,18,0;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.601494;MQSB=0.88951;RPB=0.967281;SF=13,20;SGB=-0.651104;VDB=0.424295	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:8:104,0,255	.	.	.	.	.	.	0/1:29:10:110,0,255	.	.	.	.	C	T	0	2	.	.	.	.		STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS	.	PEPTIDASE_ACTIVITY	.	.	.	.	
H	1	23415438	rs34961909	G	A	222	PASS	LUZP1	leucine zipper protein 1	exonic	NM_001142546,NM_033631	.	missense SNV	LUZP1:NM_001142546:exon4:c.C3181T:p.R1061W,LUZP1:NM_033631:exon5:c.C3181T:p.R1061W	ENST00000418342.1,ENST00000302291.4,ENST00000374623.3	.	1p36.12	.	.	.	.	.	rs34961909	.	.	0.0365449	0.0337	0.00938498	7.7e-05	0.0034	0.0384	0.033690681317	0.0408654168269	0.213,T	0.003,B	0.007,B	1,N	0.194891,N	0.83,L	2.53,T	7.7132	0.613	1.362	2.338927,18.42	3.13	AC=1;AN=2;BQB=0.992782;DP4=26,3,12,6;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.622384;SF=20;SGB=-0.691153;VDB=0.200144	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:18:255,0,255	.	.	.	.	G	A	0	1	Leucine zipper protein 1	.	.	.	8812416	.	.	.	.	.	.	.	
L	1	23664998	rs374260361	G	A	142	PASS	HNRNPR	heterogeneous nuclear ribonucleoprotein R	exonic	NM_001102398,NM_001297620,NM_005826	.	synonymous SNV	HNRNPR:NM_001102398:exon3:c.C261T:p.D87D,HNRNPR:NM_001297620:exon3:c.C261T:p.D87D,HNRNPR:NM_005826:exon3:c.C261T:p.D87D	ENST00000427764.2,ENST00000426846.2,ENST00000374616.3,ENST00000374612.1,ENST00000478691.1,ENST00000302271.6,ENST00000606561.1	.	1p36.12	.	.	.	.	.	rs374260361	.	.	0.00996678	0.006	0.00139776	7.7e-05	0.0002	0.0021	0.00996678	0.00841346449519	.	.	.	.	.	.	.	.	1.517	4.075	.	4.73	AC=1;AN=2;BQB=1;DP4=7,0,11,0;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.581364;SF=20;SGB=-0.676189;VDB=0.0760327	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:11:175,0,119	.	.	.	.	G	A	0	1	Heterogeneous nuclear ribonucleoprotein R	.	.	.	20167579|11773003|11574476|9421497	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;MRNA_PROCESSING_GO_0006397;MRNA_METABOLIC_PROCESS	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;NUCLEAR_PART;NUCLEUS;HETEROGENEOUS_NUCLEAR_RIBONUCLEOPROTEIN_COMPLEX;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX	RNA_BINDING	.	.	.	REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING	
L	1	24019245	rs80133698	C	T	222	PASS	RPL11	ribosomal protein L11	exonic	NM_000975,NM_001199802	.	synonymous SNV	RPL11:NM_000975:exon2:c.C153T:p.S51S,RPL11:NM_001199802:exon2:c.C150T:p.S50S	ENST00000374550.3,ENST00000482370.1	.	1p36.11	.	.	Score=906;Name=V$AREB6_02	.	.	rs80133698	.	.	0.00664452	0.006	0.00119808	.	0.0006	0.0074	0.00664452	0.00600961771635	.	.	.	.	.	.	.	.	0.424	1.078	1.769879,14.81	2.91	AC=2;AN=4;BQB=0.739827;DP4=15,16,13,15;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.95293;SF=16,20;SGB=-0.689466;VDB=0.00880616	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:16:255,0,255	.	.	.	0/1:25:12:255,0,255	.	.	.	.	C	T	0	2	Diamond-Blackfan anemia 7, 612562 (3)	.	.	.	23718193|21804542|20960466|19287375|19061985|16803902|10343117|9582194|7748210	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;TRANSPORT;PROTEIN_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_TRANSPORT;TRANSLATION;PROTEIN_LOCALIZATION	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	STRUCTURAL_CONSTITUENT_OF_RIBOSOME;STRUCTURAL_MOLECULE_ACTIVITY	KEGG_RIBOSOME	PID_MYC_ACTIVPATHWAY;PID_P53REGULATIONPATHWAY	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	
L	1	24077399	rs12401650	C	T	222	PASS	TCEB3	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	exonic	NM_003198	.	synonymous SNV	TCEB3:NM_003198:exon4:c.C382T:p.L128L	ENST00000609199.1,ENST00000418390.2,ENST00000487554.1	.	1p36.11	.	.	.	.	.	rs12401650	.	.	0.00332226	0.002	0.0061901	0.0002	0.0032	0.0035	0.00382848235835	0.0036057709375	.	.	.	.	.	.	.	.	0.095	0.304	1.215552,11.83	.	AC=1;AN=2;BQB=0.501616;DP4=9,4,12,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.722575;SF=20;SGB=-0.688148;VDB=0.784008	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:15:255,0,255	.	.	.	.	C	T	0	1	Transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)	.	.	.	8654961|8586449|7660130|7660129|7660122	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	.	.	.	.	REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX_;REACTOME_ELONGATION_ARREST_AND_RECOVERY;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	1	24690846	rs145783642	T	C	222	PASS	GRHL3	grainyhead-like transcription factor 3	exonic	NM_198174	.	synonymous SNV	GRHL3:NM_198174:exon16:c.T1866C:p.T622T	ENST00000350501.5,ENST00000468303.1,ENST00000374409.1,ENST00000003583.8,ENST00000337248.4,ENST00000440416.1	.	1p36.11	.	.	.	.	.	rs145783642	.	.	0.00498339	0.006	0.00119808	.	0.0002	0.0042	0.00568182	0.00498339	.	.	.	.	.	.	.	.	-0.334	-0.051	.	.	AC=2;AN=4;BQB=0.980836;DP4=31,35,21,32;DP=152;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.900008;SF=11,20;SGB=-0.692717;VDB=0.230751	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:62:23:255,0,255	.	.	.	.	.	.	.	.	0/1:57:30:255,0,255	.	.	.	.	T	C	0	2	Van der Woude syndrome 2, 606713 (3)	.	.	.	24360809|20184620|16160700|15831758|14613966|14608380|12549979|11781685|8986742|8575765|8275849|8054974|8005023|7031395	.	.	.	.	.	.	.	
M	1	26688623	.	G	A	222	PASS	ZNF683	zinc finger protein 683	exonic	NM_001307925	.	missense SNV	ZNF683:NM_001307925:exon6:c.C1187T:p.A396V	ENST00000436292.1,ENST00000403843.1,ENST00000374204.1,ENST00000349618.3	.	1p36.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126,T	0.008,B	0.036,B	1,N	0.947722,N	0.55,N	3.08,T	6.3826	-0.072	0.693	.	.	AC=1;AN=2;BQB=0.576981;DP4=9,19,15,13;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.572025;SF=20;SGB=-0.693054;VDB=0.0110412	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:28:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	27056285	rs139562988	G	A	199	PASS	ARID1A	AT rich interactive domain 1A (SWI-like)	exonic	NM_006015,NM_139135	.	synonymous SNV	ARID1A:NM_006015:exon2:c.G1281A:p.P427P,ARID1A:NM_139135:exon2:c.G1281A:p.P427P	ENST00000374152.2,ENST00000324856.7,ENST00000457599.2	.	1p36.11	.	.	Score=838;Name=V$HAND1E47_01	.	.	rs139562988	.	.	.	.	.	0.0002	7.434e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-1.411	-1.950	1.018755,10.77	.	AC=1;AN=2;BQB=0.866448;DP4=6,8,3,6;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.303926;SF=20;SGB=-0.662043;VDB=0.130321	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:9:232,0,255	.	.	.	.	G	A	0	1	Mental retardation, autosomal dominant 14, 614607 (3)	.	.	.	24185513|24185509|23698369|23104009|22426308|21288105|21288104|20942669|20826764|20522713|12665591|11073988|10757798|9630625|9434167	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CHROMATIN_REMODELING;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;INTRACELLULAR_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;ANDROGEN_RECEPTOR_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RNA_METABOLIC_PROCESS;CHROMATIN_MODIFICATION;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;CHROMATIN_ASSEMBLY_OR_DISASSEMBLY;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;CHROMATIN_REMODELING_COMPLEX;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSCRIPTION_ACTIVATOR_ACTIVITY;DNA_BINDING	.	.	.	.	
L	1	29606120	rs117122029	C	A	222	PASS	PTPRU	protein tyrosine phosphatase, receptor type, U	exonic	NM_001195001,NM_005704,NM_133177,NM_133178	.	synonymous SNV	PTPRU:NM_001195001:exon10:c.C1716A:p.G572G,PTPRU:NM_005704:exon10:c.C1716A:p.G572G,PTPRU:NM_133177:exon10:c.C1716A:p.G572G,PTPRU:NM_133178:exon10:c.C1716A:p.G572G	ENST00000428026.2,ENST00000345512.3,ENST00000323874.8,ENST00000356870.3,ENST00000460170.2,ENST00000415600.2,ENST00000373779.3	.	1p35.3	.	.	.	.	.	rs117122029	.	.	0.0116279	0.0139	0.00738818	0.0003	0.0058	0.0148	0.0137825388974	0.0144230634615	.	.	.	.	.	.	.	.	2.388	2.511	1.993714,16.17	5.16	AC=1;AN=2;BQB=0.821269;DP4=20,11,16,14;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.892865;SF=20;SGB=-0.693097;VDB=0.0383768	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:30:255,0,255	.	.	.	.	C	A	0	1	Protein tyrosine phosphatase, receptor type, U	.	.	.	9070223|8700514	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	.	.	.	.	
L	1	34006824	rs778653488	C	T	222	PASS	CSMD2	CUB and Sushi multiple domains 2	exonic	NM_001281956,NM_052896	.	synonymous SNV	CSMD2:NM_052896:exon58:c.G8931A:p.Q2977Q,CSMD2:NM_001281956:exon59:c.G9363A:p.Q3121Q	ENST00000373381.4	.	1p35.1	.	.	.	.	.	rs778653488	.	.	.	.	.	.	4.118e-05	0.0005	.	0.00434783	.	.	.	.	.	.	.	.	2.667	2.600	1.405393,12.82	5.66	AC=1;AN=2;BQB=0.998503;DP4=12,2,8,3;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.236914;SF=20;SGB=-0.676189;VDB=0.0795328	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:11:255,0,255	.	.	.	.	C	T	0	1	Cub and Sushi multiple domains 2	.	.	.	12906867|11572484	.	.	.	.	.	.	.	
L	1	36636835	rs2296266	C	T	215.5	PASS	MAP7D1	MAP7 domain containing 1	exonic	NM_001286365,NM_001286366,NM_018067	.	missense SNV	MAP7D1:NM_001286365:exon2:c.C310T:p.R104W,MAP7D1:NM_001286366:exon2:c.C310T:p.R104W,MAP7D1:NM_018067:exon2:c.C310T:p.R104W	ENST00000373150.4,ENST00000373151.2,ENST00000316156.4	.	1p34.3	.	.	Score=850;Name=V$USF_01	.	.	rs2296266	.	.	0.0348837	0.0437	0.014377	0.0005	0.0065	0.0403	0.0252680087289	0.027644215024	0.001,D	0.913,D	1.0,D	0.998413,N	0.034645,N	1.5,L	3.41,T	11.8307	0.237	0.061	6.728720,32	.	AC=4;AN=8;BQB=0.585037;DP4=45,53,33,38;DP=231;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981465;SF=0,8,10,20;SGB=-0.690438;VDB=0.0257591	GT:DP:DV:PL	0/1:46:17:255,0,255	.	.	.	.	.	.	.	0/1:38:21:255,0,255	.	0/1:45:19:255,0,255	.	.	.	.	.	.	.	.	.	0/1:40:14:230,0,255	.	.	.	.	C	T	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	1	36788100	rs550387297	G	C	222	PASS	EVA1B	eva-1 homolog B (C. elegans)	exonic	NM_001304762,NM_018166	.	synonymous SNV	EVA1B:NM_001304762:exon3:c.C294G:p.P98P,EVA1B:NM_018166:exon3:c.C294G:p.P98P	ENST00000270824.1,ENST00000490466.1,ENST00000474766.1	CpG: 219	1p34.3	.	.	.	.	.	rs550387297	.	.	0.0149502	0.0119	0.00239617	.	0.0017	0.0220	0.0145482300153	0.0149502	.	.	.	.	.	.	.	.	0.127	-1.709	1.226220,11.88	.	AC=2;AN=4;BQB=0.715921;DP4=36,14,37,12;DP=131;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999574;SF=19,20;SGB=-0.693021;VDB=0.0236177	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:27:255,0,255	0/1:49:22:255,0,255	.	.	.	.	G	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	1	41847842	rs577800241	G	A	73	PASS	FOXO6	forkhead box O6	exonic	NM_001291281	.	synonymous SNV	FOXO6:NM_001291281:exon2:c.G969A:p.L323L	ENST00000372591.1	CpG: 168	1p34.2	.	.	.	.	.	rs577800241	.	.	0.0315615	0.0248	0.00499201	.	.	.	.	0.0252404116587	.	.	.	.	.	.	.	.	1.612	3.504	.	3.37	AC=2;AN=4;BQB=0.924584;DP4=1,6,0,10;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;MQSB=1;RPB=0.809011;SF=12,20;SGB=-0.616816;VDB=0.0341101	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:6:119,0,69	.	.	.	.	.	.	.	0/1:8:4:93,0,130	.	.	.	.	G	A	0	2	Forkhead box O6	.	.	.	12857750	.	.	.	.	.	.	.	
L	1	43119603	rs138133896	T	C	222	PASS	CCDC30	coiled-coil domain containing 30	exonic	NM_001080850	.	synonymous SNV	CCDC30:NM_001080850:exon16:c.T2256C:p.L752L	ENST00000507855.1,ENST00000340612.4,ENST00000428554.2,ENST00000390640.4,ENST00000342022.4	.	1p34.2	.	.	.	.	.	rs138133896	.	.	0.0215947	0.0179	0.00379393	.	0.0015	0.0176	0.0237366173047	0.026442309375	.	.	.	.	.	.	.	.	0.871	0.634	.	3.41	AC=3;AN=6;BQB=0.309602;DP4=48,18,37,17;DP=178;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.925549;SF=6,13,20;SGB=-0.69168;VDB=0.367039	GT:DP:DV:PL	.	.	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	.	.	0/1:40:18:255,0,255	.	.	.	.	.	.	0/1:41:17:255,0,255	.	.	.	.	T	C	0	3	.	.	.	.		.	.	.	.	.	.	.	
M	1	43892987	rs150966402	C	T	222	PASS	SZT2	seizure threshold 2 homolog (mouse)	exonic	NM_015284	.	missense SNV	SZT2:NM_015284:exon24:c.C3298T:p.P1100S	ENST00000372442.1,ENST00000562955.1	.	1p34.2	.	.	.	.	.	rs150966402	.	.	0.0149502	0.0159	0.00319489	.	0.0014	0.0191	0.0130168413476	0.0156250233173	0.54,T	0.002,B	0.0,B	0.999885,N	0.162202,N	0.975,L	.	8.8753	0.724	0.403	.	3.77	AC=1;AN=2;BQB=0.999971;DP4=16,12,19,12;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.701266;SF=20;SGB=-0.69311;VDB=0.0677069	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:31:255,0,255	.	.	.	.	C	T	0	1	Epileptic encephalopathy, early infantile, 18, 615476 (3)	.	.	.	24324832|23932106|19624305|9455484	.	.	.	.	.	.	.	
H	1	44084819	rs70937045	G	A	222	PASS	PTPRF	protein tyrosine phosphatase, receptor type, F	exonic	NM_002840,NM_130440	.	missense SNV	PTPRF:NM_130440:exon26:c.G4565A:p.R1522Q,PTPRF:NM_002840:exon27:c.G4592A:p.R1531Q	ENST00000359947.4,ENST00000372413.3,ENST00000496447.1,ENST00000372414.3,ENST00000438120.1,ENST00000422171.2	.	1p34.2	.	.	.	.	.	rs70937045	.	.	0.00996678	0.0079	0.00179712	.	0.0012	0.0152	0.00765697001531	0.0120192314423	0.002,D	0.998,D	1.0,D	1,D	0.007687,N	1.425,L	-1.8,D	19.6098	2.714	6.701	6.146240,28.4	5.42	AC=2;AN=4;BQB=0.399609;DP4=62,29,54,27;DP=204;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.34078;SF=20,21;SGB=-0.693127;VDB=0.714797	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:33:255,0,255	0/1:105:48:255,0,255	.	.	.	G	A	0	2	?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)	.	.	.	24781087|19273906|15155950|11158333|10338209|9245518|8995282|7929208|7665159|7558042|1486801	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ADHERENS_JUNCTION;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	.	
H	1	44457896	rs748898483	C	T	222	PASS	CCDC24	coiled-coil domain containing 24	exonic	NM_152499	.	missense SNV	CCDC24:NM_152499:exon3:c.C139T:p.R47W	ENST00000372306.3,ENST00000479055.1,ENST00000372307.3,ENST00000372318.3	.	1p34.1	.	.	.	.	.	rs748898483	.	.	.	.	.	.	8.441e-06	0	.	.	0.042,D	0.007,B	0.022,B	1,N	0.392769,N	0.6,N	.	1.1736	-0.189	-1.074	3.143025,22.6	.	AC=1;AN=2;BQB=0.763025;DP4=22,5,39,8;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.693147;VDB=0.408687	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:47:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	1	44584638	rs201635350	A	G	225	PASS	KLF17	Kruppel-like factor 17	exonic	NM_173484	.	missense SNV	KLF17:NM_173484:exon1:c.A59G:p.Q20R	ENST00000372299.3,ENST00000476802.1	.	1p34.1	.	.	.	.	.	rs201635350	.	.	0.0199336	0.0278	0.00898562	.	0.0030	0.0208	0.0137825644104	0.015625033774	0.005,D	0.505,P	0.94,P	1,N	.	1.735,L	2.74,T	8.0821	0.248	-2.074	.	.	AC=3;AN=4;BQB=0.988813;DP4=14,6,44,39;DP=143;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.976801;SF=20,21;SGB=-0.688148;VDB=0.0790377	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:15:255,0,255	1/1:68:68:255,205,0	.	.	.	A	G	1	1	Zinc finger protein-393	.	.	.	19801974|16460907|12351194	.	.	.	.	.	.	.	
L	1	47534353	rs747113137	T	C	222	PASS	CYP4Z1	cytochrome P450, family 4, subfamily Z, polypeptide 1	exonic	NM_178134	.	synonymous SNV	CYP4Z1:NM_178134:exon2:c.T237C:p.A79A	ENST00000334194.3	.	1p33	.	.	.	Score=0.94887;Name=chr1:47304216	.	rs747113137	.	.	.	.	.	.	8.239e-06	0	.	.	.	.	.	.	.	.	.	.	-2.368	-1.657	.	.	AC=1;AN=2;BQB=0.958954;DP4=9,8,10,10;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.39867;SF=20;SGB=-0.692067;VDB=0.183457	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:20:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	1	53453713	rs763049237	C	T	46.99	PASS	SCP2	sterol carrier protein 2	exonic	NM_001007098,NM_001193599,NM_001193600,NM_001193617,NM_002979	.	missense SNV	SCP2:NM_001007098:exon10:c.C854T:p.T285M,SCP2:NM_001193599:exon10:c.C914T:p.T305M,SCP2:NM_001193600:exon10:c.C854T:p.T285M,SCP2:NM_001193617:exon10:c.C743T:p.T248M,SCP2:NM_002979:exon11:c.C986T:p.T329M	ENST00000528311.1,ENST00000371509.4,ENST00000407246.2,ENST00000371514.3,ENST00000371513.5,ENST00000473584.1	.	1p32.3	.	.	.	.	.	rs763049237	.	.	.	.	.	.	2.477e-05	0	.	.	0.009,D	0.806,P	0.984,D	1,N	0.251796,N	0.65,N	-0.32,T	5.9142	0.261	2.300	3.728377,23.3	2.63	AC=1;AN=2;BQB=0.125;DP4=8,0,2,0;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.625;SF=20;SGB=-0.453602;VDB=0.9	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:2:81,0,164	.	.	.	.	C	T	0	1	Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)	.	.	.	16685654|8678992|8004106|3555624|1718316|1703300	BIOSYNTHETIC_PROCESS;STEROID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;STEROID_BIOSYNTHETIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;MICROBODY;PEROXISOME	LIPID_BINDING;STEROL_BINDING;STEROID_BINDING	KEGG_PRIMARY_BILE_ACID_BIOSYNTHESIS;KEGG_PPAR_SIGNALING_PATHWAY;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_ALPHA_LINOLENIC_ACID_ALA_METABOLISM;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PM2
L	1	55139436	rs200378430	T	C	222	PASS	MROH7	maestro heat-like repeat family member 7	exonic	NM_001039464,NM_001291332	.	synonymous SNV	MROH7:NM_001291332:exon7:c.T312C:p.N104N,MROH7:NM_001039464:exon9:c.T1758C:p.N586N	ENST00000339553.5,ENST00000421030.2,ENST00000409996.1,ENST00000545244.1,ENST00000395690.2,ENST00000414150.2,ENST00000454855.2	.	1p32.3	.	.	.	.	.	rs200378430	.	.	0.0215947	0.0188	0.00379393	.	0.0014	0.0185	0.0153139418989	0.0215947	.	.	.	.	.	.	.	.	-0.981	-0.307	.	.	AC=1;AN=2;BQB=0.782742;DP4=18,16,31,11;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999945;SF=20;SGB=-0.693146;VDB=0.396558	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:42:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	1	55183300	rs199845652	A	G	141	PASS	TTC4	tetratricopeptide repeat domain 4	exonic	NM_001291333,NM_004623	.	missense SNV	TTC4:NM_001291333:exon3:c.A365G:p.N122S,TTC4:NM_004623:exon3:c.A365G:p.N122S	ENST00000371281.3,ENST00000371284.5,ENST00000414150.2	.	1p32.3	.	.	.	.	.	rs199845652	.	.	0.0149502	0.0139	0.00279553	.	0.0011	0.0155	0.0114854688515	0.0149502	0.004,D	1.0,D	1.0,D	1,D	.	3.245,M	-0.37,T	11.5298	1.899	7.919	5.949116,27.6	4.18	AC=2;AN=4;BQB=0.864013;DP4=13,2,8,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.186356;SF=17,20;SGB=-0.616816;VDB=0.455272	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:6:192,0,160	.	.	0/1:14:5:156,0,255	.	.	.	.	A	G	0	2	Tetratricopeptide repeat domain 4	.	.	.	10828607|9933562	.	.	.	.	.	.	.	
L	1	57169953	.	T	C	222	PASS	PRKAA2	protein kinase, AMP-activated, alpha 2 catalytic subunit	exonic	NM_006252	.	synonymous SNV	PRKAA2:NM_006252:exon7:c.T1098C:p.H366H	ENST00000371244.4	.	1p32.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	1.247	.	.	AC=1;AN=2;BQB=0.445476;DP4=12,12,9,10;DP=54;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.757157;SF=20;SGB=-0.69168;VDB=0.278583	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:19:255,0,255	.	.	.	.	T	C	0	1	Protein kinase, AMP-activated, alpha-2 catalytic subunit	.	.	.	20558612|17244528|16801347|12511592|11797013|11389854|9758629|9224708|9208914|7988703|1536860|1365882	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	.	KEGG_REGULATION_OF_AUTOPHAGY;KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM	PID_LKB1_PATHWAY;PID_VEGFR1_2_PATHWAY	BIOCARTA_CHREBP2_PATHWAY;BIOCARTA_LEPTIN_PATHWAY	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_REGULATION_OF_RHEB_GTPASE_ACTIVITY_BY_AMPK;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_PI3K_CASCADE	PM2
L	1	57185350	rs201872334	T	C	222	PASS	C1orf168	chromosome 1 open reading frame 168	exonic	NM_001004303	.	synonymous SNV	C1orf168:NM_001004303:exon20:c.A2181G:p.S727S	ENST00000343433.6	.	1p32.2	.	.	.	.	.	rs201872334	.	.	0	0.003	0.000599042	.	0.0003	0.0043	.	0.00434783	.	.	.	.	.	.	.	.	-0.470	-0.820	.	.	AC=1;AN=2;BQB=0.9171;DP4=6,9,6,4;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999615;SF=20;SGB=-0.670168;VDB=0.133033	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:10:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	1	60330883	rs17119807	C	G	222	PASS	HOOK1	hook microtubule-tethering protein 1	exonic	NM_015888	.	synonymous SNV	HOOK1:NM_015888:exon18:c.C1710G:p.L570L	ENST00000371208.3,ENST00000395561.2,ENST00000465876.1	.	1p32.1	.	.	.	.	.	rs17119807	.	.	0.0332226	0.0367	0.0303514	0.0284	0.0338	0.0337	0.0298621589587	0.0288461588942	.	.	.	.	.	.	.	.	1.317	0.785	1.399141,12.78	3.57	AC=3;AN=6;BQB=0.973258;DP4=12,19,15,24;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.735889;SF=1,20,24;SGB=-0.691153;VDB=0.000313211	GT:DP:DV:PL	.	0/1:30:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:10:255,0,254	.	.	.	0/1:18:11:255,0,196	C	G	0	3	Hook, Drosophila, homolog of, 1	.	.	.	15471887|12075009|12032826|11238449|9927460	.	.	.	.	.	.	.	
L	1	60373500	rs2229191	G	T	222	PASS	CYP2J2	cytochrome P450, family 2, subfamily J, polypeptide 2	exonic	NM_000775	.	synonymous SNV	CYP2J2:NM_000775:exon6:c.C961A:p.R321R	ENST00000371204.3,ENST00000492633.1	.	1p32.1	.	.	.	.	.	rs2229191	.	.	0.0332226	0.0387	0.0305511	0.0283	0.0339	0.0364	0.0298621589587	0.0288461588942	.	.	.	.	.	.	.	.	1.363	3.112	.	3.67	AC=3;AN=6;BQB=0.919127;DP4=56,21,63,19;DP=235;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.428345;SF=1,20,24;SGB=-0.692976;VDB=0.36059	GT:DP:DV:PL	.	0/1:49:26:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:28:255,0,255	.	.	.	0/1:54:28:255,0,255	G	T	0	3	Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase), polypeptide 2	.	.	.	12879072|9570962|8631948|1717443	CARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;REGULATION_OF_HEART_CONTRACTION;ICOSANOID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	
L	1	62713252	rs187338839	C	T	222	PASS	KANK4	KN motif and ankyrin repeat domains 4	exonic	NM_181712	.	synonymous SNV	KANK4:NM_181712:exon9:c.G2775A:p.Q925Q	ENST00000371150.1,ENST00000317477.4,ENST00000354381.3,ENST00000371153.4	.	1p31.3	.	.	.	.	.	rs187338839	.	.	0.0448505	0.0327	0.00678914	.	0.0017	0.0233	0.0237366020521	0.0396634747596	.	.	.	.	.	.	.	.	0.206	1.167	1.961701,15.97	.	AC=3;AN=6;BQB=0.250107;DP4=32,14,40,15;DP=138;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.865445;SF=4,20,24;SGB=-0.69168;VDB=0.525933	GT:DP:DV:PL	.	.	.	.	0/1:34:19:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:12:255,0,255	.	.	.	0/1:42:24:255,0,255	C	T	0	3	KN motif- and ankyrin repeat domain-containing protein 4	.	.	.	17996375	.	.	.	.	.	.	.	
L	1	63902619	rs150298974	C	T	222	PASS	ALG6	ALG6, alpha-1,3-glucosyltransferase	exonic	NM_013339	.	synonymous SNV	ALG6:NM_013339:exon15:c.C1452T:p.F484F	ENST00000371108.4,ENST00000263440.4,ENST00000494765.1	.	1p31.3	.	.	.	.	.	rs150298974	.	.	0.0149502	0.0129	0.00259585	.	0.0012	0.0171	0.0176110612557	0.0132211777644	.	.	.	.	.	.	.	.	1.320	0.645	1.748414,14.68	3.25	AC=3;AN=6;BQB=0.84246;DP4=22,13,19,19;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.970677;SF=6,13,20;SGB=-0.680642;VDB=0.00781824	GT:DP:DV:PL	.	.	.	.	.	.	0/1:27:12:255,0,255	.	.	.	.	.	.	0/1:22:15:255,0,229	.	.	.	.	.	.	0/1:24:11:255,0,255	.	.	.	.	C	T	0	3	Congenital disorder of glycosylation, type Ic, 603147 (3)	.	.	.	21334936|16007612|11875054|11558905|10924277|10914684|10832578|10359825|9710431	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	
L	1	85397201	rs150803301	A	T	222	PASS	MCOLN2	mucolipin 2	exonic	NM_153259	.	synonymous SNV	MCOLN2:NM_153259:exon12:c.T1386A:p.G462G	ENST00000284027.5,ENST00000370608.3	.	1p22.3	.	.	Score=796;Name=V$PAX2_01	.	.	rs150803301	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0023	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	-0.273	-0.457	.	.	AC=2;AN=4;BQB=0.984624;DP4=24,9,22,16;DP=98;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.454527;SF=20,22;SGB=-0.692562;VDB=0.0442366	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:22:255,0,255	.	0/1:27:16:255,0,255	.	.	A	T	0	2	Mucolipin 2	.	.	.	17662026|16606612|12403827	.	.	.	.	.	.	.	
M	1	85589933	rs538637775	T	C	222	PASS	WDR63	WD repeat domain 63	exonic	NM_001288563,NM_145172	.	missense SNV	WDR63:NM_001288563:exon18:c.T1994C:p.M665T,WDR63:NM_145172:exon19:c.T2111C:p.M704T	ENST00000370596.1,ENST00000326813.8,ENST00000294664.6	.	1p22.3	.	.	Score=899;Name=V$NCX_01	.	.	rs538637775	.	.	0	0.001	0.000199681	.	6.74e-05	0.0005	.	.	1.0,T	0.0,B	0.0,B	0.999883,N	0.297100,N	1.01,L	1.0,T	7.9295	-0.089	0.116	.	.	AC=1;AN=2;BQB=0.557684;DP4=10,7,8,15;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.966786;SF=20;SGB=-0.692717;VDB=0.0775692	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:23:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	1	86512531	rs147829805	T	G	202.5	PASS	COL24A1	collagen, type XXIV, alpha 1	exonic	NM_152890	.	missense SNV	COL24A1:NM_152890:exon12:c.A1927C:p.K643Q	ENST00000370571.2,ENST00000436319.1	.	1p22.3	.	.	.	.	Score=193;Name="181519:L2b(LINE)"	rs147829805	.	.	0.0199336	0.0198	0.00439297	.	0.0017	0.0210	0.0199336	0.0192308007212	0.016,D	0.892,P	0.963,D	0.986762,D	0.001356,N	1.06,L	-3.26,D	9.9876	2.114	3.093	4.182655,23.8	4.22	AC=2;AN=4;BQB=0.999148;DP4=20,5,13,4;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.686704;SF=14,20;SGB=-0.651104;VDB=0.251998	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:8:226,0,255	.	.	.	.	.	0/1:23:9:245,0,255	.	.	.	.	T	G	0	2	Collagen, type XXIV, alpha-1	.	.	.	12874293	.	.	.	.	PID_ATF2_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	1	92540149	rs76005638	C	T	89	PASS	SETSIP	SET-like protein	exonic	NM_001287737	.	missense SNV	SETSIP:NM_001287737:exon1:c.G850A:p.E284K	.	.	1p22.1	.	.	.	Score=0.956618;Name=chr3:155705026	Score=280;Name="191824:(CAT)n(Simple_repeat)"	rs76005638	.	.	0.0614618	0.0635	0.0129792	.	.	.	.	0.0649038384615	.	.	.	.	.	.	.	.	0.170	4.296	1.573712,13.71	.	AC=2;AN=4;BQB=0.71154;DP4=11,0,12,0;DP=27;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;RPB=0.47436;SF=1,20;SGB=-0.616816;VDB=0.551573	GT:DP:DV:PL	.	0/1:12:6:129,0,141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:6:115,0,137	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	1	93201961	rs200441654	T	C	111	PASS	EVI5	ecotropic viral integration site 5	exonic	NM_001308248,NM_005665	.	missense SNV	EVI5:NM_001308248:exon2:c.A275G:p.Q92R,EVI5:NM_005665:exon2:c.A275G:p.Q92R	ENST00000540033.1,ENST00000543509.1,ENST00000370331.1	.	1p22.1	.	.	.	.	.	rs200441654	.	.	0.00498339	0.005	0.000998403	.	0.0001	0.0017	0.00498339	0.00498339	0.098,T	0.977,D	1.0,D	0.999993,D	0.000000,D	2.125,M	3.46,T	15.1634	1.985	7.671	3.976153,23.6	5.26	AC=1;AN=2;BQB=1;DP4=8,1,8,0;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989637;SF=20;SGB=-0.651104;VDB=0.796534	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:8:144,0,189	.	.	.	.	T	C	0	1	Ecotropic viral integration site 5	.	.	.	16439210|9618176	MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283	.	.	.	PID_AURORA_B_PATHWAY	.	.	
L	1	95305553	rs139355124	G	A	210.8	PASS	SLC44A3	solute carrier family 44, member 3	exonic	NM_001114106,NM_001258340,NM_001258341,NM_001258342,NM_001258343,NM_001301079,NM_152369	.	synonymous SNV	SLC44A3:NM_001258342:exon6:c.G612A:p.L204L,SLC44A3:NM_001258343:exon6:c.G516A:p.L172L,SLC44A3:NM_001301079:exon6:c.G480A:p.L160L,SLC44A3:NM_152369:exon6:c.G576A:p.L192L,SLC44A3:NM_001114106:exon7:c.G720A:p.L240L,SLC44A3:NM_001258340:exon7:c.G720A:p.L240L,SLC44A3:NM_001258341:exon7:c.G624A:p.L208L	ENST00000446120.2,ENST00000271227.6,ENST00000532427.1,ENST00000530397.1,ENST00000467909.1,ENST00000529450.1,ENST00000527077.1,ENST00000422162.1	.	1p21.3	.	.	.	.	.	rs139355124	.	.	0.0348837	0.0327	0.00658946	.	0.0036	0.0486	0.0513016699847	0.0312499764423	.	.	.	.	.	.	.	.	1.461	4.629	1.097928,11.20	4.91	AC=5;AN=10;BQB=0.927407;DP4=41,51,34,38;DP=218;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.722467;SF=6,18,20,22,23;SGB=-0.688148;VDB=0.0889765	GT:DP:DV:PL	.	.	.	.	.	.	0/1:38:15:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:32:13:199,0,255	.	0/1:28:12:255,0,255	.	0/1:27:12:255,0,255	0/1:39:20:255,0,255	.	G	A	0	5	.	.	.	.		.	.	.	.	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PC;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_AMINE_COMPOUND_SLC_TRANSPORTERS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
L	1	98144718	.	A	T	218	PASS	DPYD	dihydropyrimidine dehydrogenase	exonic	NM_000110	.	synonymous SNV	DPYD:NM_000110:exon8:c.T783A:p.L261L	ENST00000370192.3	.	1p21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	1.060	.	2.01	AC=1;AN=2;BQB=0.933111;DP4=8,5,5,5;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.198432;SF=20;SGB=-0.670168;VDB=0.00073458	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:10:251,0,255	.	.	.	.	A	T	0	1	Dihydropyrimidine dehydrogenase deficiency, 274270 (3); 5-fluorouracil toxicity, 274270 (3)	.	.	.	19622726|19296131|10071185|10027339|9918128|9721209|9686374|9470816|9439663|9266349|9254861|9010022|8892022|8698850|8083224|8051923|7832988|7713523|1648430	.	.	.	KEGG_PYRIMIDINE_METABOLISM;KEGG_BETA_ALANINE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_PYRIMIDINE_CATABOLISM;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	PM2
L	1	99150467	rs200265126	C	T	59	PASS	SNX7	sorting nexin 7	exonic	NM_015976,NM_152238	.	synonymous SNV	SNX7:NM_015976:exon2:c.C207T:p.S69S,SNX7:NM_152238:exon2:c.C207T:p.S69S	ENST00000529992.1,ENST00000370189.5,ENST00000306121.3	.	1p21.3	.	.	.	.	.	rs200265126	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.0005	0.0073	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	0.235	0.701	1.769266,14.81	.	AC=1;AN=2;BQB=0.809011;DP4=5,1,3,0;DP=11;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;MQSB=1;RPB=0.924584;SF=20;SGB=-0.511536;VDB=0.935046	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:3:92,0,166	.	.	.	.	C	T	0	1	Sorting nexin 7	.	.	.	11485546	.	.	.	.	.	.	.	
L	1	100376325	rs12043139	G	A	145	PASS	AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	exonic	NM_000028,NM_000642,NM_000643,NM_000644,NM_000645,NM_000646	.	missense SNV	AGL:NM_000645:exon26:c.G3707A:p.R1236H,AGL:NM_000028:exon28:c.G3758A:p.R1253H,AGL:NM_000642:exon28:c.G3758A:p.R1253H,AGL:NM_000643:exon28:c.G3758A:p.R1253H,AGL:NM_000644:exon28:c.G3758A:p.R1253H,AGL:NM_000646:exon28:c.G3710A:p.R1237H	ENST00000361915.3,ENST00000370163.3,ENST00000294724.4,ENST00000361302.3,ENST00000361522.4,ENST00000370165.3,ENST00000370161.2	.	1p21.2	.	.	.	.	.	rs12043139	.	.	0.0581395	0.0437	0.0129792	0.0041	0.0055	0.0333	0.0390505346095	0.0492788329327	0.065,T	0.087,B	0.29,B	0.999985,D	0.000051,N	2.29,M	-0.49,T	10.1076	0.717	3.870	3.911899,23.5	2.35	AC=2;AN=4;BQB=0.6821;DP4=8,0,9,2;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.95494;SF=2,20;SGB=-0.636426;VDB=0.394191	GT:DP:DV:PL	.	.	0/1:12:7:195,0,174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:4:161,0,132	.	.	.	.	G	A	0	2	Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease IIIb, 232400 (3)	.	.	.	19834502|19299494|17908927|17047887|11977176|11378828|10982190|10925384|10655153|10571954|10472540|9490286|9412782|8990006|8954797|8755644|8702417|1505983|1374391	.	MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	KEGG_STARCH_AND_SUCROSE_METABOLISM	.	.	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
L	1	100436133	rs11166383	A	G	160.5	PASS	SLC35A3	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	exonic	NM_001271685	.	missense SNV	SLC35A3:NM_001271685:exon1:c.A41G:p.D14G	ENST00000370155.3,ENST00000370153.1,ENST00000427993.2,ENST00000465289.1	.	1p21.2	.	.	.	.	.	rs11166383	.	.	0.0664452	0.0536	0.0353435	.	0.0384	0.0404	0.0241477	0.0564904019231	0.345,T	0.0,B	0.0,B	1,N	0.043709,U	.	0.8,T	4.558	0.104	0.494	.	.	AC=2;AN=4;BQB=0.659954;DP4=16,0,16,2;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965264;SF=2,20;SGB=-0.676189;VDB=0.0256226	GT:DP:DV:PL	.	.	0/1:20:11:201,0,196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:7:186,0,150	.	.	.	.	A	G	0	2	?Arthrogryposis, mental retardation, and seizures, 615553 (3)	.	.	.	24031089|23766508|16344554|10393322	AMINO_SUGAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CARBOHYDRATE_TRANSPORT;N_ACETYLGLUCOSAMINE_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;TRANSPORT;NUCLEOTIDE_SUGAR_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;GLUCOSAMINE_METABOLIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;CARBOHYDRATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_VITAMINS_NUCLEOSIDES_AND_RELATED_MOLECULES	
L	1	100617938	rs78161968	T	C	122	PASS	LRRC39	leucine rich repeat containing 39	splicing	NM_001256385,NM_001256386,NM_001256387,NM_144620	NM_001256385:exon9:c.952+3A>G;NM_001256386:exon9:c.952+3A>G;NM_001256387:exon8:c.952+3A>G;NM_144620:exon9:c.952+3A>G	.	.	ENST00000370138.1,ENST00000342895.3,ENST00000370137.1	.	1p21.2	.	.	.	.	.	rs78161968	.	.	0.0564784	0.0446	0.0169728	0.0096	0.0065	0.0330	0.0359877415008	0.04807693125	.	.	.	.	.	.	.	.	2.254	3.995	0.980675,10.55	5.89	AC=2;AN=4;BQB=0.9986;DP4=13,4,10,1;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.360231;SF=2,20;SGB=-0.636426;VDB=0.62127	GT:DP:DV:PL	.	.	0/1:16:7:203,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:4:107,0,204	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	1	109143272	.	C	T	222	PASS	FAM102B	family with sequence similarity 102, member B	exonic	NM_001010883	.	synonymous SNV	FAM102B:NM_001010883:exon2:c.C222T:p.I74I	ENST00000370035.3,ENST00000405454.1	.	1p13.3	.	.	Score=767;Name=V$YY1_02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371	0.414	2.259611,17.90	3.07	AC=1;AN=2;BQB=0.938651;DP4=9,2,8,6;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.236914;SF=20;SGB=-0.686358;VDB=0.0745661	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:14:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	109325118	rs2275344	G	A	133	PASS	STXBP3	syntaxin binding protein 3	exonic	NM_007269	.	missense SNV	STXBP3:NM_007269:exon10:c.G884A:p.R295Q	ENST00000370008.3	.	1p13.3	.	.	.	.	.	rs2275344	.	.	0.0365449	0.0357	0.0183706	0.0002	0.0080	0.0474	0.0344564026034	0.0372596415865	1.0,T	0.035,B	0.469,P	0.996234,D	0.000022,D	-0.23,N	-1.01,T	7.6939	2.631	2.407	3.235017,22.8	5.59	AC=3;AN=6;BQB=0.895781;DP4=19,8,14,6;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.00775;MQSB=1;RPB=0.503877;SF=14,17,20;SGB=-0.556411;VDB=0.0205346	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:4:147,0,205	.	.	0/1:14:3:97,0,255	.	.	0/1:23:13:255,0,255	.	.	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	1	110036836	rs79471201	C	T	222	PASS	CYB561D1	cytochrome b561 family, member D1	exonic	NM_001134400,NM_001134403,NM_001134404,NM_182580	.	synonymous SNV	CYB561D1:NM_001134400:exon1:c.C75T:p.G25G,CYB561D1:NM_001134403:exon1:c.C75T:p.G25G,CYB561D1:NM_001134404:exon1:c.C75T:p.G25G,CYB561D1:NM_182580:exon1:c.C75T:p.G25G	ENST00000393709.3,ENST00000528785.1,ENST00000430195.2,ENST00000496961.1,ENST00000527072.1,ENST00000533024.1,ENST00000310611.4,ENST00000420578.2,ENST00000369868.3	CpG: 38	1p13.3	.	.	Score=1000;Name=V$AP2REP_01	.	.	rs79471201	.	.	0.0182724	0.0149	0.00379393	.	0.0027	0.0403	0.0206738162328	0.0144230597356	.	.	.	.	.	.	.	.	2.564	1.575	2.099571,16.85	4.96	AC=4;AN=8;BQB=0.315165;DP4=178,41,156,36;DP=600;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991379;SF=5,11,16,20;SGB=-0.693146;VDB=0.0627808	GT:DP:DV:PL	.	.	.	.	.	0/1:87:44:255,0,255	.	.	.	.	.	0/1:91:48:255,0,255	.	.	.	.	0/1:124:58:255,0,255	.	.	.	0/1:109:42:255,0,255	.	.	.	.	C	T	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	1	110235859	.	C	A	228	PASS	GSTM1	glutathione S-transferase mu 1	exonic	NM_000561,NM_146421	.	missense SNV	GSTM1:NM_146421:exon7:c.C488A:p.S163Y,GSTM1:NM_000561:exon8:c.C599A:p.S200Y	ENST00000349334.3,ENST00000369819.2,ENST00000369823.2,ENST00000369831.2,ENST00000309851.5,ENST00000562538.1,ENST00000460717.3,ENST00000483399.2,ENST00000490021.2	.	1p13.3	.	.	.	Score=0.95643;Name=chr1:110216099	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.105,B	0.096,B	1,D	0.000009,U	4.22,H	3.57,T	9.987	0.669	2.620	5.160152,25.4	2.63	AC=2;AN=2;DP4=0,0,40,29;DP=87;MQ0F=0;MQ=43;MQSB=0.00626851;SF=20;SGB=-0.693147;VDB=0.253225	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:69:69:255,208,0	.	.	.	.	C	A	1	0	Glutathione S-transferase M1	.	.	.	18948376|16257343|15857854|14726165|12794689|12524541|12485442|11719393|11470992|10625170|9452477|9415705|9156696|8886122|8403204|8317488|7485742|7468592|6928733|6712152|4084207|3698203|3570286|3419925|3174634|3118757|2737666|2295125|2084706|1988177|1930212|1740022|1540145|1483702	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ALKYL_OR_ARYLOTHER_THAN_METHYLGROUPS;GLUTATHIONE_TRANSFERASE_ACTIVITY	KEGG_GLUTATHIONE_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	PID_CMYB_PATHWAY	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUTATHIONE_CONJUGATION;REACTOME_PHASE_II_CONJUGATION	PM2
H	1	113253948	rs114357529	C	G	222	PASS	PPM1J	protein phosphatase, Mg2+/Mn2+ dependent, 1J	exonic	NM_005167	.	missense SNV	PPM1J:NM_005167:exon6:c.G986C:p.R329T	ENST00000359994.4,ENST00000464951.1,ENST00000309276.6,ENST00000471038.2,ENST00000606505.1	.	1p13.2	.	.	Score=755;Name=V$STAT5A_02	.	.	rs114357529	.	.	0.0116279	0.0089	0.00179712	.	0.0003	0.0046	0.00765696266462	0.0116279	0.002,D	0.936,D	0.997,D	1,D	0.000000,D	2.985,M	0.87,T	18.4888	2.536	7.424	5.742714,26.9	5.11	AC=1;AN=2;BQB=0.913931;DP4=16,4,20,4;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.49243;SF=20;SGB=-0.692831;VDB=0.0768665	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:24:255,0,255	.	.	.	.	C	G	0	1	Protein phosphatase, magnesium-dependent, 1J	.	.	.	12633878	.	.	.	.	PID_P53DOWNSTREAMPATHWAY	.	.	PP3
L	1	115269682	rs770562268	A	G	222	PASS	CSDE1	cold shock domain containing E1, RNA-binding	exonic	NM_001007553,NM_001130523,NM_001242891,NM_001242892,NM_001242893,NM_007158	.	synonymous SNV	CSDE1:NM_001242893:exon11:c.T1293C:p.D431D,CSDE1:NM_001242892:exon12:c.T1386C:p.D462D,CSDE1:NM_007158:exon12:c.T1293C:p.D431D,CSDE1:NM_001007553:exon13:c.T1386C:p.D462D,CSDE1:NM_001130523:exon13:c.T1431C:p.D477D,CSDE1:NM_001242891:exon14:c.T1524C:p.D508D	ENST00000358528.4,ENST00000339438.6,ENST00000369530.1,ENST00000530886.1,ENST00000261443.5,ENST00000438362.2,ENST00000534699.1	.	1p13.2	.	.	.	.	.	rs770562268	.	.	.	.	.	.	8.269e-06	0.0001	.	.	.	.	.	.	.	.	.	.	0.956	2.894	0.943803,10.33	4.59	AC=1;AN=2;BQB=0.663223;DP4=23,11,22,9;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.559923;SF=20;SGB=-0.69311;VDB=0.000779	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:65:31:255,0,255	.	.	.	.	A	G	0	1	Cold-shock domain-containing E1, RNA-binding	.	.	.	15314026|11051545|10048485|9383053|3278301|2204029	SYSTEM_DEVELOPMENT;REPRODUCTIVE_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS;ANATOMICAL_STRUCTURE_DEVELOPMENT;MALE_GONAD_DEVELOPMENT;ORGAN_DEVELOPMENT;REPRODUCTION	.	.	.	PID_MYC_REPRESSPATHWAY	.	.	
L	1	117149120	rs141675992	G	A	222	PASS	IGSF3	immunoglobulin superfamily, member 3	exonic	NM_001542	.	missense SNV	IGSF3:NM_001542:exon5:c.C1276T:p.H426Y	ENST00000318837.6,ENST00000369483.1,ENST00000369486.3	.	1p13.1	.	.	Score=772;Name=V$MIF1_01	Score=0.972247;Name=chrUn_gl000212:107195	Score=1067;Name="235780:Plat_L3(LINE)"	rs141675992	.	.	0.0116279	0.0139	0.00299521	.	0.0009	0.0118	0.00918835672282	0.00961538064904	0.993,T	0.775,P	0.851,P	1,D	.	.	4.14,T	12.574	2.672	4.089	2.456426,19.19	4.3	AC=1;AN=2;BQB=0.446389;DP4=5,6,14,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.967085;MQSB=0.975797;RPB=0.923174;SF=20;SGB=-0.690438;VDB=0.0394985	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:17:255,0,255	.	.	.	.	G	A	0	1	?Lacrimal duct defect, 149700 (3)	.	.	.	24372406|9790749	.	.	.	.	.	.	.	
L	1	143767778	rs6604516	T	A	217.12	PASS	PPIAL4G	peptidylprolyl isomerase A (cyclophilin A)-like 4G	exonic	NM_001123068	.	missense SNV	PPIAL4G:NM_001123068:exon1:c.A71T:p.Q24L	ENST00000419275.1	.	1q21.1	.	.	.	Score=0.995373;Name=chr1:147832013	.	rs6604516	.	.	.	.	.	.	0.0037	0.0035	.	0.391304	1.0,T	0.0,B	0.0,B	0.999464,N	0.000005,N	-4.26,N	2.77,T	.	-0.405	2.109	.	.	AC=25;AN=50;BQB=0.589541;DP4=1319,880,809,822;DP=5296;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=1.19687e-26;MQSB=0.755086;RPB=0.2944;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.07995e-06	GT:DP:DV:PL	0/1:175:76:255,0,255	0/1:135:57:255,0,255	0/1:147:63:255,0,255	0/1:167:75:255,0,255	0/1:153:64:255,0,255	0/1:173:67:255,0,255	0/1:162:61:227,0,255	0/1:185:78:255,0,255	0/1:157:79:255,0,255	0/1:142:53:255,0,255	0/1:169:68:251,0,255	0/1:166:68:255,0,255	0/1:106:48:243,0,255	0/1:121:44:237,0,255	0/1:130:58:255,0,255	0/1:154:71:255,0,255	0/1:168:66:255,0,255	0/1:119:47:254,0,255	0/1:168:85:255,0,255	0/1:144:61:255,0,255	0/1:148:64:255,0,255	0/1:228:107:255,0,255	0/1:83:33:246,0,255	0/1:161:63:225,0,255	0/1:169:75:255,0,255	T	A	0	25	.	.	.	.		.	.	.	.	.	.	.	
L	1	143767833	rs7521153	T	C	148.52	PASS	PPIAL4G	peptidylprolyl isomerase A (cyclophilin A)-like 4G	exonic	NM_001123068	.	missense SNV	PPIAL4G:NM_001123068:exon1:c.A16G:p.I6V	ENST00000419275.1	.	1q21.1	.	.	.	Score=0.995373;Name=chr1:147832013	.	rs7521153	.	.	.	.	.	.	0.0005	0.0005	.	0.395652	1.0,T	0.0,B	0.0,B	1,N	0.002563,N	-2.92,N	1.19,T	5.31	-1.069	0.754	.	.	AC=25;AN=50;BQB=0.00698486;DP4=1030,788,158,1132;DP=3992;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=1.90972e-23;MQSB=0.000152076;RPB=0.225019;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.13158e-06	GT:DP:DV:PL	0/1:143:62:191,0,255	0/1:111:42:150,0,255	0/1:123:52:174,0,255	0/1:131:62:183,0,255	0/1:125:59:210,0,255	0/1:142:53:173,0,255	0/1:125:47:149,0,255	0/1:151:59:192,0,255	0/1:126:63:255,0,255	0/1:112:37:143,0,255	0/1:126:57:192,0,255	0/1:131:50:166,0,255	0/1:91:40:172,0,255	0/1:105:32:138,0,255	0/1:91:38:176,0,255	0/1:143:63:195,0,255	0/1:135:52:164,0,255	0/1:99:42:151,0,255	0/1:136:67:255,0,255	0/1:129:54:227,0,255	0/1:124:49:147,0,255	0/1:185:82:202,0,255	0/1:76:33:203,0,255	0/1:112:43:156,0,255	0/1:136:52:199,0,255	T	C	0	25	.	.	.	.		.	.	.	.	.	.	.	
L	1	144828765	rs1043478	A	G	75.99	PASS	NBPF8,NBPF9	neuroblastoma breakpoint family, member 9	exonic	NM_001037501,NM_001037675	.	unknown	UNKNOWN	ENST00000281815.8,ENST00000468645.1,ENST00000338347.4,ENST00000440491.2	.	1q21.1	.	.	.	Score=0.983123;Name=chr1:148577536	.	rs1043478	.	.	0.00498339	0.003	0.00299521	.	.	.	0.00498339	0.00498339	1.0,T	0.001,B	0.0,B	1,N	.	.	3.28,T	.	-1.167	-3.429	.	.	AC=17,1;AN=36;BQB=0.852838;DP4=486,592,194,171;DP=1910;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.000476782;MQSB=0.642167;RPB=0.00906105;SF=1,6,7,8,9,10,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.69168;VDB=0.0429166	GT:DP:DV:PL	.	0/1:92:19:77,0,255,.,.,.	.	.	.	.	0/1:82:17:71,0,255,.,.,.	0/2:90:24:74,.,.,0,.,255	0/1:85:31:186,0,255,.,.,.	0/1:80:23:102,0,255,.,.,.	0/1:91:29:100,0,255,.,.,.	.	0/1:68:14:67,0,255,.,.,.	0/1:65:18:148,0,255,.,.,.	0/1:77:18:120,0,255,.,.,.	0/1:103:21:90,0,255,.,.,.	0/1:67:12:82,0,255,.,.,.	0/1:69:20:152,0,255,.,.,.	0/1:97:21:84,0,255,.,.,.	0/1:94:23:155,0,255,.,.,.	0/1:84:21:88,0,255,.,.,.	.	0/1:27:10:70,0,255,.,.,.	0/1:86:26:208,0,255,.,.,.	0/1:86:18:134,0,255,.,.,.	A	T,G	0	18	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	
L	1	144874835	rs111839403	G	A	145.08	PASS	PDE4DIP	phosphodiesterase 4D interacting protein	exonic	NM_001198832,NM_001198834,NM_014644	.	synonymous SNV	PDE4DIP:NM_001198834:exon30:c.C4773T:p.S1591S,PDE4DIP:NM_014644:exon30:c.C4773T:p.S1591S,PDE4DIP:NM_001198832:exon33:c.C4641T:p.S1547S	ENST00000524974.1,ENST00000369359.4,ENST00000369354.3,ENST00000313382.9,ENST00000530740.1,ENST00000369356.4	.	1q21.1	.	.	Score=773;Name=V$PAX5_02	Score=0.922395;Name=chr1:149035965	.	rs111839403	.	.	0.0282392	0.0327	0.0325479	0.0108	0.0211	0.0294	0.0282392	0.0276442408654	.	.	.	.	.	.	.	.	0.061	-0.078	1.116585,11.30	.	AC=3;AN=6;BQB=0.770157;DP4=67,82,18,20;DP=250;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.489521;SF=1,20,22;SGB=-0.689466;VDB=0.0155327	GT:DP:DV:PL	.	0/1:55:16:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:16:208,0,255	.	0/1:44:6:78,0,255	.	.	G	A	0	3	Phosphodiesterase 4D-interacting protein	.	.	.	12907457|11374908|11134006	.	.	.	.	.	.	.	
L	1	144922247	rs782734144	T	C	191	PASS	PDE4DIP	phosphodiesterase 4D interacting protein	exonic	NM_001002811,NM_001002812,NM_001198832,NM_001198834,NM_014644	.	synonymous SNV	PDE4DIP:NM_001002811:exon4:c.A1410G:p.Q470Q,PDE4DIP:NM_001002812:exon8:c.A921G:p.Q307Q,PDE4DIP:NM_001198834:exon8:c.A921G:p.Q307Q,PDE4DIP:NM_014644:exon8:c.A921G:p.Q307Q,PDE4DIP:NM_001198832:exon11:c.A1119G:p.Q373Q	ENST00000369349.3,ENST00000313431.9,ENST00000369359.4,ENST00000369354.3,ENST00000313382.9,ENST00000369351.3,ENST00000530740.1,ENST00000479408.2,ENST00000369356.4,ENST00000529945.1	.	1q21.1	.	.	Score=910;Name=V$TCF11_01	.	.	rs782734144	.	.	.	.	.	.	8.26e-06	0.0001	.	.	.	.	.	.	.	.	.	.	0.155	0.689	.	.	AC=1;AN=2;BQB=0.714022;DP4=18,9,4,6;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.663204;SF=20;SGB=-0.670168;VDB=0.362972	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:10:225,0,255	.	.	.	.	T	C	0	1	Phosphodiesterase 4D-interacting protein	.	.	.	12907457|11374908|11134006	.	.	.	.	.	.	.	
H	1	145039584	rs781837582	A	G	36.99	PASS	PDE4DIP	phosphodiesterase 4D interacting protein	splicing	NM_001198832	NM_001198832:exon1:c.20+6T>C	.	.	ENST00000369348.3,ENST00000478649.2,ENST00000369359.4,ENST00000313382.9,ENST00000493130.2,ENST00000530740.1	.	1q21.1	.	.	.	.	.	rs781837582	.	.	.	.	.	.	0.0003	0.0039	.	0.00434783	.	.	.	.	.	.	.	.	0.233	0.958	2.318474,18.29	.	AC=1;AN=2;BQB=0.569597;DP4=74,16,16,1;DP=138;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.776337;SF=20;SGB=-0.690438;VDB=0.737286	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:107:17:73,0,255	.	.	.	.	A	G	0	1	Phosphodiesterase 4D-interacting protein	.	.	.	12907457|11374908|11134006	.	.	.	.	.	.	.	
L	1	145368473	rs1043749	G	C	88.37	PASS	NBPF9	neuroblastoma breakpoint family, member 9	exonic	NM_001277444	.	unknown	UNKNOWN	ENST00000369338.1,ENST00000342960.5,ENST00000369339.3	.	1q21.1	.	.	.	Score=0.98083;Name=chr1:148271039	.	rs1043749	.	.	.	.	.	.	5.794e-05	0.0001	.	0.0130435	1.0,T	.	.	1,N	.	.	3.45,T	2.2125	-1.807	-0.641	.	.	AC=13,1;AN=28;BQB=0.97171;DP4=2057,449,1175,22;DP=5108;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=1.68838e-38;MQSB=0.033124;RPB=0.0324745;SF=0,5,7,8,9,10,13,14,16,17,20,22,23,24;SGB=-0.693147;VDB=4.7752e-05	GT:DP:DV:PL	0/1:290:81:79,0,255,.,.,.	.	.	.	.	0/1:273:78:106,0,255,.,.,.	.	0/1:287:105:189,0,255,.,.,.	0/1:288:90:125,0,255,.,.,.	0/1:205:55:67,0,255,.,.,.	0/1:264:72:67,0,255,.,.,.	.	.	0/1:266:95:161,0,255,.,.,.	0/2:235:105:255,.,.,0,.,255	.	0/1:344:120:138,0,255,.,.,.	0/1:217:63:82,0,255,.,.,.	.	.	0/1:327:111:92,0,255,.,.,.	.	0/1:92:19:96,0,255,.,.,.	0/1:288:87:109,0,255,.,.,.	0/1:327:116:153,0,255,.,.,.	G	C,A	0	14	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	
L	1	145368473	rs1043749	G	A	88.37	PASS	NBPF9	neuroblastoma breakpoint family, member 9	exonic	NM_001277444	.	unknown	UNKNOWN	ENST00000369338.1,ENST00000342960.5,ENST00000369339.3	.	1q21.1	.	.	.	Score=0.98083;Name=chr1:148271039	.	rs1043749	.	.	.	.	.	.	0.0088	0.0064	.	0.00869565	0.001,D	.	.	1,N	.	.	3.3,T	2.2125	-1.807	-0.641	1.991224,16.16	.	AC=13,1;AN=28;BQB=0.97171;DP4=2057,449,1175,22;DP=5108;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=1.68838e-38;MQSB=0.033124;RPB=0.0324745;SF=0,5,7,8,9,10,13,14,16,17,20,22,23,24;SGB=-0.693147;VDB=4.7752e-05	GT:DP:DV:PL	0/1:290:81:79,0,255,.,.,.	.	.	.	.	0/1:273:78:106,0,255,.,.,.	.	0/1:287:105:189,0,255,.,.,.	0/1:288:90:125,0,255,.,.,.	0/1:205:55:67,0,255,.,.,.	0/1:264:72:67,0,255,.,.,.	.	.	0/1:266:95:161,0,255,.,.,.	0/2:235:105:255,.,.,0,.,255	.	0/1:344:120:138,0,255,.,.,.	0/1:217:63:82,0,255,.,.,.	.	.	0/1:327:111:92,0,255,.,.,.	.	0/1:92:19:96,0,255,.,.,.	0/1:288:87:109,0,255,.,.,.	0/1:327:116:153,0,255,.,.,.	G	C,A	0	14	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	
L	1	145368518	rs61813437	C	T	54.2	PASS	NBPF9	neuroblastoma breakpoint family, member 9	exonic	NM_001277444	.	unknown	UNKNOWN	ENST00000369338.1,ENST00000342960.5,ENST00000369339.3	.	1q21.1	.	.	.	Score=0.98083;Name=chr1:148271039	.	rs61813437	.	.	.	.	.	.	4.945e-05	0	.	0.00434783	0.003,D	0.876,P	0.974,D	1,N	.	.	2.87,T	4.8119	0.689	1.032	2.334596,18.39	.	AC=9;AN=18;BQB=0.0274855;DP4=1715,466,568,35;DP=4214;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=9.47737e-25;MQSB=0.0575392;RPB=0.861005;SF=1,2,5,7,13,20,22,23,24;SGB=-0.693147;VDB=8.59619e-05	GT:DP:DV:PL	.	0/1:292:70:124,0,255	0/1:261:64:140,0,255	.	.	0/1:322:68:61,0,255	.	0/1:332:69:82,0,255	.	.	.	.	.	0/1:326:75:71,0,255	.	.	.	.	.	.	0/1:400:81:78,0,255	.	0/1:106:23:112,0,255	0/1:350:75:74,0,255	0/1:395:78:63,0,255	C	T	0	9	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	
H	1	145414790	rs12025510	G	C	222	PASS	HFE2	hemochromatosis type 2 (juvenile)	exonic	NM_213653	.	missense SNV	HFE2:NM_213653:exon2:c.G9C:p.E3D	ENST00000497365.1,ENST00000357836.5,ENST00000475797.1,ENST00000336751.5	.	1q21.1	.	.	.	.	.	rs12025510	CLINSIG=Benign;CLNDBN=Hemochromatosis_type_2A;CLNACC=RCV000205262.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1865614:602390	.	0.0166113	0.0129	0.00259585	.	0.0012	0.0173	0.0145482457887	0.0156250091346	0.604,T	0.0,B	0.0,B	0.70366,D	0.457745,N	0,N	-2.01,D	0.8772	-0.131	-0.295	.	.	AC=1;AN=2;BQB=0.880153;DP4=15,8,14,9;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.613437;SF=20;SGB=-0.692717;VDB=0.0315911	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:23:255,0,255	.	.	.	.	G	C	0	1	Hemochromatosis, type 2A, 602390 (3)	.	.	.	20940420|19796184|19252486|18492090|17607365|16604073|16075059|16075058|15811010|15461631|15254010|15138164|14982873|14982873|14982867|14647275|12891378|12482411	.	.	.	.	PID_BMPPATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NETRIN1_SIGNALING	BP6
L	1	146399562	rs868986379	T	C	89.7	PASS	NBPF12	neuroblastoma breakpoint family, member 12	exonic	NM_001278141	.	synonymous SNV	NBPF12:NM_001278141:exon10:c.T501C:p.D167D	ENST00000309471.8,ENST00000442909.2,ENST00000446760.2	.	1q21.1	.	.	.	Score=0.992106;Name=chr1:147594661	.	rs868986379	.	.	.	.	.	.	0.0003	0.0001	.	0.00869565	.	.	.	.	.	.	.	.	0.014	0.226	.	.	AC=17;AN=34;BQB=0.773603;DP4=607,197,400,30;DP=1610;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=6.9997e-06;MQSB=0.813047;RPB=0.242929;SF=0,1,2,5,6,10,11,12,15,16,17,18,19,20,22,23,24;SGB=-0.693054;VDB=0.00440034	GT:DP:DV:PL	0/1:68:28:169,0,255	0/1:95:27:112,0,255	0/1:60:24:169,0,255	.	.	0/1:70:38:171,0,255	0/1:63:33:180,0,255	.	.	.	0/1:79:23:90,0,255	0/1:94:32:155,0,255	0/1:53:17:125,0,255	.	.	0/1:76:26:136,0,255	0/1:51:30:154,0,255	0/1:63:18:99,0,255	0/1:77:22:86,0,255	0/1:81:21:89,0,255	0/1:104:24:93,0,255	.	0/1:15:7:97,0,128	0/1:69:30:120,0,255	0/1:116:30:57,0,255	T	C	0	17	Neuroblastoma breakpoint family, member 12	.	.	.	16079250|11948409|10574462	.	.	.	.	.	.	.	
L	1	148344660	rs61809890	G	C	185.4	PASS	NBPF9,NBPF14,NBPF8	neuroblastoma breakpoint family, member 9	exonic	NM_001037501,NM_001277444,NM_015383	.	synonymous SNV	NBPF8:NM_001037501:exon2:c.C258G:p.L86L,NBPF14:NM_015383:exon2:c.C258G:p.L86L,NBPF9:NM_001277444:exon3:c.C258G:p.L86L	ENST00000414710.2,ENST00000369202.1	.	1q21.2	.	.	.	Score=0.98555;Name=chr1:144599386	.	rs61809890	.	.	.	.	.	.	0.0017	0.0012	.	0.408696	.	.	.	.	.	.	.	.	0.529	-1.502	.	.	AC=25;AN=50;BQB=0.0188547;DP4=1058,437,352,502;DP=2988;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=8.60966e-11;MQSB=0.023526;RPB=0.00742828;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693054;VDB=0.00321183	GT:DP:DV:PL	0/1:84:28:155,0,255	0/1:77:25:218,0,255	0/1:86:41:255,0,255	0/1:98:39:255,0,255	0/1:91:37:232,0,255	0/1:118:43:255,0,255	0/1:81:34:255,0,255	0/1:119:39:238,0,255	0/1:93:33:226,0,255	0/1:65:20:134,0,255	0/1:90:38:255,0,255	0/1:83:32:247,0,255	0/1:75:24:155,0,255	0/1:127:34:160,0,255	0/1:84:31:242,0,255	0/1:66:24:178,0,255	0/1:85:28:220,0,255	0/1:77:26:200,0,255	0/1:115:36:189,0,255	0/1:96:39:237,0,255	0/1:101:39:249,0,255	0/1:164:60:255,0,255	0/1:52:21:217,0,255	0/1:103:37:247,0,255	0/1:119:46:216,0,255	G	C	0	25	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	
L	1	148346885	.	T	A	80	PASS	NBPF9	neuroblastoma breakpoint family, member 9	splicing	NM_001277444	.	.	.	ENST00000414710.2,ENST00000369202.1	.	1q21.2	.	.	.	Score=0.98555;Name=chr1:144599386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.681	-0.074	.	.	AC=1;AN=2;BQB=0.872525;DP4=1,13,1,6;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.260035;MQSB=0.973684;RPB=0.932792;SF=20;SGB=-0.636426;VDB=0.565335	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:7:113,0,146	.	.	.	.	T	A	0	1	Neuroblastoma breakpoint family, member 9	.	.	.	16079250	.	.	.	.	.	.	.	PM2
L	1	150199042	rs28594165	C	A	51.7	PASS	ANP32E	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	exonic	NM_001136478,NM_001136479,NM_001280559,NM_001280560,NM_030920	.	missense SNV	ANP32E:NM_001136478:exon4:c.G456T:p.E152D,ANP32E:NM_001280560:exon4:c.G413T:p.R138M,ANP32E:NM_001136479:exon5:c.G435T:p.E145D,ANP32E:NM_001280559:exon5:c.G579T:p.E193D,ANP32E:NM_030920:exon5:c.G579T:p.E193D	ENST00000369115.2,ENST00000436748.2,ENST00000369119.3,ENST00000369116.4,ENST00000369114.5,ENST00000533654.1,ENST00000314136.8	.	1q21.2	.	.	.	.	Score=267;Name="253849:(TCC)n(Simple_repeat)"	rs28594165	.	.	.	.	.	.	3.034e-05	0	0.00284091	.	0.001,D	0.0,B	0.0,B	1,N	.	.	8.03,T	0.0398	-3.665	-2.244	.	.	AC=4;AN=8;BQB=0.960789;DP4=19,2,10,4;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0183156;SF=4,9,20,22;SGB=-0.556411;VDB=0.00701511	GT:DP:DV:PL	.	.	.	.	0/1:14:4:78,0,204	.	.	.	.	0/1:6:3:69,0,87	.	.	.	.	.	.	.	.	.	.	0/1:4:2:62,0,50	.	0/1:11:5:131,0,192	.	.	C	A	0	4	Acidic leucine-rich nuclear phosphoprotein 32 family, member E	.	.	.	24463511|12438741	.	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;NUCLEUS;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	PHOSPHATASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	.	.	.	.	PM2
L	1	150199045	rs28460085	T	C	50.01	PASS	ANP32E	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	exonic	NM_001136478,NM_001136479,NM_001280559,NM_001280560,NM_030920	.	missense SNV	ANP32E:NM_001280560:exon4:c.A410G:p.K137R	ENST00000369115.2,ENST00000436748.2,ENST00000369119.3,ENST00000369116.4,ENST00000369114.5,ENST00000533654.1,ENST00000314136.8	.	1q21.2	.	.	.	.	Score=267;Name="253849:(TCC)n(Simple_repeat)"	rs28460085	.	.	.	.	.	.	3.071e-05	0	0.00142045	.	0.162,T	0.001,B	0.0,B	1,N	.	.	8.05,T	4.2912	-0.128	-2.180	.	.	AC=4;AN=8;BQB=1;DP4=19,1,10,4;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0632055;SF=4,9,20,22;SGB=-0.556411;VDB=0.00701511	GT:DP:DV:PL	.	.	.	.	0/1:15:4:76,0,192	.	.	.	.	0/1:4:3:74,0,25	.	.	.	.	.	.	.	.	.	.	0/1:4:2:62,0,62	.	0/1:11:5:122,0,192	.	.	T	C	0	4	Acidic leucine-rich nuclear phosphoprotein 32 family, member E	.	.	.	24463511|12438741	.	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;NUCLEUS;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	PHOSPHATASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	.	.	.	.	PM2
M	1	150464913	rs182013142	A	G	222	PASS	TARS2	threonyl-tRNA synthetase 2, mitochondrial (putative)	exonic	NM_001271895,NM_025150	.	missense SNV	TARS2:NM_001271895:exon7:c.A722G:p.Q241R,TARS2:NM_025150:exon7:c.A722G:p.Q241R	ENST00000438568.2,ENST00000369064.3,ENST00000606933.1,ENST00000463555.1,ENST00000369054.2	.	1q21.3	.	.	Score=753;Name=V$PPARA_01	.	.	rs182013142	.	.	0.00830565	0.0079	0.00159744	.	0.0003	0.0039	0.00689127303216	0.0084134625	1.0,T	0.002,B	0.0,B	1,N	0.028543,N	-2.075,N	.	12.6107	-1.992	0.069	.	.	AC=1;AN=2;BQB=0.678858;DP4=20,9,23,8;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.760691;SF=20;SGB=-0.69311;VDB=0.00740832	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:31:255,0,255	.	.	.	.	A	G	0	1	?Combined oxidative phosphorylation deficiency 21, 615918 (3)	.	.	.	24827421|15779907	.	.	.	KEGG_AMINOACYL_TRNA_BIOSYNTHESIS	.	.	REACTOME_MITOCHONDRIAL_TRNA_AMINOACYLATION;REACTOME_TRNA_AMINOACYLATION	
L	1	151006539	rs3738476	C	G	225.22	PASS	PRUNE	prune exopolyphosphatase	exonic	NM_001303229,NM_001303242,NM_001303243,NM_021222	.	synonymous SNV	PRUNE:NM_001303243:exon6:c.C588G:p.G196G,PRUNE:NM_001303229:exon7:c.C645G:p.G215G,PRUNE:NM_001303242:exon7:c.C1032G:p.G344G,PRUNE:NM_021222:exon8:c.C1191G:p.G397G	ENST00000271620.3,ENST00000368937.1,ENST00000368936.1,ENST00000368934.1,ENST00000368935.1,ENST00000271619.8	.	1q21.3	.	.	.	.	.	rs3738476	.	.	.	.	.	.	0.0010	0.0141	.	0.00434783	.	.	.	.	.	.	.	.	-0.052	0.476	1.081571,11.11	.	AC=40,1;AN=46;BQB=0.571976;DP4=98,77,752,445;DP=1881;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.143354;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.780756	GT:DP:DV:PL	1/1:49:49:255,148,0,.,.,.	1/1:60:60:255,181,0,.,.,.	1/1:63:63:255,190,0,.,.,.	1/1:63:63:255,190,0,.,.,.	1/1:56:56:255,169,0,.,.,.	1/1:71:71:255,214,0,.,.,.	1/1:50:50:255,151,0,.,.,.	1/1:58:58:255,175,0,.,.,.	0/1:58:23:255,0,255,.,.,.	1/1:50:50:255,151,0,.,.,.	0/1:57:17:255,0,255,.,.,.	2/1:51:51:255,255,255,255,0,255	0/1:57:20:255,0,255,.,.,.	1/1:69:69:255,208,0,.,.,.	1/1:54:54:255,163,0,.,.,.	1/1:70:70:255,211,0,.,.,.	.	.	0/1:53:26:255,0,255,.,.,.	1/1:67:67:255,202,0,.,.,.	1/1:64:64:255,193,0,.,.,.	1/1:64:64:255,193,0,.,.,.	1/1:29:29:255,87,0,.,.,.	1/1:90:89:255,245,0,.,.,.	0/1:69:34:255,0,255,.,.,.	C	A,G	17	6	.	.	.	.		.	.	.	KEGG_PURINE_METABOLISM	.	.	.	
H	1	151502009	rs759007153	C	T	222	PASS	CGN	cingulin	exonic	NM_020770	.	stopgain	CGN:NM_020770:exon11:c.C2080T:p.R694X	ENST00000271636.7	.	1q21.3	.	.	Score=802;Name=V$CMYB_01	.	.	rs759007153	.	.	.	.	.	.	1.748e-05	0	.	.	.	.	.	1,A	0.121496,N	.	.	12.2897	0.011	0.382	10.576701,36	.	AC=1;AN=2;BQB=0.997168;DP4=2,8,5,12;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994971;SF=20;SGB=-0.690438;VDB=0.354882	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:17:255,0,200	.	.	.	.	C	T	0	1	.	.	.	.		.	.	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	KEGG_TIGHT_JUNCTION	.	.	REACTOME_TGF_BETA_RECEPTOR_SIGNALING_IN_EMT_EPITHELIAL_TO_MESENCHYMAL_TRANSITION;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PM2
L	1	152052316	rs2338311	T	C	222	PASS	LOC100131107	putative UPF0607 protein ENSP00000383783	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.A968G:p.H323R	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs2338311	.	.	0.0681063	0.0704	0.0189696	.	.	.	.	0.0504807614183	.	.	.	.	.	.	.	.	-2.094	-1.905	.	.	AC=5;AN=10;BQB=0.758391;DP4=59,68,59,51;DP=306;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.605076;MQSB=0.605076;RPB=0.520652;SF=0,6,20,23,24;SGB=-0.690438;VDB=0.538758	GT:DP:DV:PL	0/1:48:17:255,0,255	.	.	.	.	.	0/1:43:22:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:18:255,0,255	.	.	0/1:53:24:255,0,255	0/1:54:29:255,0,255	T	C	0	5	.	.	.	.		.	.	.	.	.	.	.	
L	1	152052893	rs77894571	T	C	222	PASS	LOC100131107	putative UPF0607 protein ENSP00000383783	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.A391G:p.N131D	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs77894571	.	.	0.0631229	0.0675	0.0141773	.	.	.	.	0.0468749840144	.	.	.	.	.	.	.	.	0.077	0.354	.	.	AC=3;AN=6;BQB=0.777279;DP4=106,56,129,52;DP=483;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.973061;MQSB=0.963041;RPB=0.70366;SF=0,20,24;SGB=-0.693147;VDB=0.953057	GT:DP:DV:PL	0/1:112:61:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:108:58:255,0,255	.	.	.	0/1:123:62:255,0,255	T	C	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	1	152053243	rs184986990	C	T	66.49	PASS	LOC100131107	putative UPF0607 protein ENSP00000383783	exonic	NM_001310142	.	missense SNV	LOC100131107:NM_001310142:exon1:c.G41A:p.R14H	.	.	1q21.3	.	.	.	Score=0.956954;Name=chr8:26867987	.	rs184986990	.	.	0.0614618	0.0665	0.0139776	.	.	.	.	0.0456730823317	.	.	.	.	.	.	.	.	0.510	0.347	.	.	AC=3;AN=6;BQB=0.643095;DP4=2,21,0,17;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.964642;MQSB=1;RPB=0.924449;SF=0,20,24;SGB=-0.556411;VDB=0.548121	GT:DP:DV:PL	0/1:11:4:70,0,128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:6:115,0,99	.	.	.	0/1:18:7:114,0,244	C	T	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	1	152057793	rs79690779	A	G	222	PASS	TCHHL1	trichohyalin-like 1	exonic	NM_001008536	.	missense SNV	TCHHL1:NM_001008536:exon3:c.T2365C:p.C789R	ENST00000368806.1	.	1q21.3	.	.	.	.	.	rs79690779	.	.	0.0614618	0.0665	0.0139776	0.0003	0.0022	0.0282	0.0336906602757	0.0456730823317	0.038,D	0.006,B	0.028,B	1,N	0.300622,N	0.55,N	1.69,T	0.2585	-0.782	-0.201	.	.	AC=3;AN=6;BQB=0.815037;DP4=51,39,48,24;DP=217;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.568892;SF=0,20,24;SGB=-0.692067;VDB=0.856348	GT:DP:DV:PL	0/1:45:20:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:26:255,0,255	.	.	.	0/1:60:26:255,0,255	A	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	1	152059659	rs77167778	T	A	222	PASS	TCHHL1	trichohyalin-like 1	exonic	NM_001008536	.	missense SNV	TCHHL1:NM_001008536:exon3:c.A499T:p.N167Y	ENST00000368806.1	.	1q21.3	.	.	.	.	.	rs77167778	.	.	0.0614618	0.0665	0.0139776	0.0003	0.0022	0.0282	0.0336906602757	0.0456730823317	0.016,D	0.347,B	0.879,P	1,N	0.220744,N	1.59,L	1.87,T	4.1918	0.303	0.565	1.516549,13.40	.	AC=3;AN=6;BQB=0.745669;DP4=60,28,61,24;DP=248;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.920694;SF=0,20,24;SGB=-0.69312;VDB=0.537701	GT:DP:DV:PL	0/1:58:32:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:19:255,0,255	.	.	.	0/1:73:34:255,0,255	T	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	1	152080976	rs200503388	T	G	221	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.A4717C:p.S1573R	ENST00000368804.1	CpG: 131	1q21.3	.	.	.	.	.	rs200503388	.	.	0.0614618	0.0665	0.0139776	.	0.0015	0.0194	0.0614618	0.0614618	0.421,T	0.0,B	0.0,B	0.999935,N	.	-1.085,N	3.72,T	13.5273	-0.305	-1.216	1.341512,12.48	.	AC=3;AN=6;BQB=0.6207;DP4=91,69,29,44;DP=297;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=2.60379e-05;SF=0,20,24;SGB=-0.692562;VDB=1.96441e-11	GT:DP:DV:PL	0/1:68:22:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:25:255,0,255	.	.	.	0/1:85:26:255,0,255	T	G	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152080983	rs186805596	C	T	217.33	PASS	TCHH	trichohyalin	exonic	NM_007113	.	synonymous SNV	TCHH:NM_007113:exon3:c.G4710A:p.Q1570Q	ENST00000368804.1	CpG: 131	1q21.3	.	.	.	.	.	rs186805596	.	.	0.0614618	0.0665	0.0139776	.	0.0015	0.0194	0.0614618	0.0614618	.	.	.	.	.	.	.	.	-0.070	0.272	1.337682,12.46	.	AC=3;AN=6;BQB=0.178915;DP4=95,62,22,39;DP=274;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.989535;MQSB=0.982951;RPB=3.19312e-05;SF=0,20,24;SGB=-0.69168;VDB=3.58992e-10	GT:DP:DV:PL	0/1:62:19:254,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:21:245,0,255	.	.	.	0/1:80:21:255,0,255	C	T	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152081316	rs143332338	A	G	222	PASS	TCHH	trichohyalin	exonic	NM_007113	.	synonymous SNV	TCHH:NM_007113:exon3:c.T4377C:p.R1459R	ENST00000368804.1	CpG: 131	1q21.3	.	.	.	.	.	rs143332338	.	.	0.0664452	0.0694	0.0147764	0.0002	0.0025	0.0310	0.0664452	0.0492788597356	.	.	.	.	.	.	.	.	-0.678	-0.605	.	.	AC=5;AN=10;BQB=0.302222;DP4=216,115,215,91;DP=934;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.922084;SF=0,6,20,23,24;SGB=-0.693147;VDB=0.118854	GT:DP:DV:PL	0/1:98:45:255,0,255	.	.	.	.	.	0/1:121:49:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:127:68:255,0,255	.	.	0/1:149:82:255,0,255	0/1:142:62:255,0,255	A	G	0	5	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152081692	rs72477383	G	C	222	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.C4001G:p.T1334R	ENST00000368804.1	CpG: 131	1q21.3	.	.	.	.	.	rs72477383	.	.	0.0614618	0.0665	0.0139776	0.0002	0.0022	0.0282	0.0336906602757	0.0456730823317	0.099,T	0.0,B	0.0,B	1,N	.	-1.7,N	3.53,T	5.6807	-1.655	-0.514	.	.	AC=3;AN=6;BQB=0.495635;DP4=105,78,102,46;DP=464;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.58864;SF=0,20,24;SGB=-0.693147;VDB=0.412766	GT:DP:DV:PL	0/1:97:46:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:108:49:255,0,255	.	.	.	0/1:126:53:255,0,255	G	C	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152082068	rs72477384	T	C	222	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.A3625G:p.K1209E	ENST00000368804.1	.	1q21.3	.	.	.	.	.	rs72477384	.	.	0.0664452	0.0694	0.0147764	0.0002	0.0025	0.0310	0.0367534339969	0.0492788597356	0.334,T	0.0,B	0.0,B	1,N	.	-1.625,N	3.68,T	5.9462	0.047	-1.311	.	2.54	AC=5;AN=10;BQB=0.71964;DP4=207,75,213,77;DP=807;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.314536;SF=0,6,20,23,24;SGB=-0.693146;VDB=0.473584	GT:DP:DV:PL	0/1:75:42:255,0,255	.	.	.	.	.	0/1:111:57:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:53:255,0,255	.	.	0/1:155:75:255,0,255	0/1:129:63:255,0,255	T	C	0	5	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
H	1	152082364	rs372810614	C	T	75.41	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G3329A:p.C1110Y	ENST00000368804.1	.	1q21.3	.	.	.	.	.	rs372810614	.	.	.	.	.	.	8.292e-06	0	.	.	0.0,D	0.0,B	0.0,B	1,N	.	-1.67,N	3.62,T	3.7854	-1.366	-4.476	.	.	AC=3;AN=6;BQB=0.232869;DP4=77,32,19,18;DP=274;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0946774;MQSB=0.757176;RPB=0.619923;SF=0,20,24;SGB=-0.670168;VDB=0.999649	GT:DP:DV:PL	0/1:38:10:140,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:10:81,0,255	.	.	.	0/1:67:17:112,0,255	C	T	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	PM2
L	1	152082376	rs200755879	C	A	89.95	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G3317T:p.R1106L	ENST00000368804.1	.	1q21.3	.	.	.	.	.	rs200755879	.	.	0.038206	0.0456	0.0107827	0.0022	0.0003	0	.	0.038206	0.0,D	0.001,B	0.001,B	1,N	.	1.21,L	2.69,T	4.343	-1.861	-1.956	.	.	AC=3;AN=6;BQB=0.184055;DP4=93,42,23,20;DP=291;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.213567;MQSB=0.700192;RPB=0.033631;SF=0,20,24;SGB=-0.688148;VDB=0.196919	GT:DP:DV:PL	0/1:51:15:198,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:12:70,0,255	.	.	.	0/1:78:16:108,0,255	C	A	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152082400	rs201862078	G	C	134	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.C3293G:p.P1098R	ENST00000368804.1	.	1q21.3	.	.	.	.	.	rs201862078	.	.	0.0631229	0.0675	0.0163738	0.0018	0.0001	0.0001	.	0.0492788350962	0.0,D	0.0,B	0.0,B	1,N	.	-0.695,N	3.4,T	0.5402	-0.460	-2.563	.	.	AC=3;AN=6;BQB=0.33017;DP4=86,55,36,15;DP=306;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.61572;MQSB=0.644665;RPB=0.00016333;SF=0,20,24;SGB=-0.69168;VDB=4.70341e-05	GT:DP:DV:PL	0/1:62:19:196,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:14:124,0,255	.	.	.	0/1:81:18:186,0,255	G	C	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152084231	rs72477385	A	G	222	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.T1462C:p.W488R	ENST00000368804.1	CpG: 109	1q21.3	.	.	.	.	.	rs72477385	.	.	0.0614618	0.0665	0.0139776	0.0002	0.0024	0.0303	0.0329249659418	0.0456730823317	0.0,D	0.0,B	0.0,B	1,N	.	0,N	3.61,T	2.2645	-1.298	-2.990	.	.	AC=3;AN=6;BQB=0.0952341;DP4=114,60,97,54;DP=503;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.394676;SF=0,20,24;SGB=-0.692976;VDB=0.642114	GT:DP:DV:PL	0/1:56:26:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:26:255,0,255	.	.	.	0/1:209:99:255,0,255	A	G	0	3	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152084651	rs180778449	C	T	113.45	PASS	TCHH	trichohyalin	exonic	NM_007113	.	missense SNV	TCHH:NM_007113:exon3:c.G1042A:p.E348K	ENST00000368804.1	.	1q21.3	.	.	.	.	Score=318;Name="258314:CT-rich(Low_complexity)"	rs180778449	.	.	0.0631229	0.0655	0.013778	0.0003	0.0017	0.0210	.	0.0468749840144	0.0,D	0.033,B	0.147,B	1,N	.	0.695,N	3.32,T	7.7365	0.357	-0.583	2.146434,17.16	.	AC=5;AN=10;BQB=0.994962;DP4=64,54,32,24;DP=290;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.980001;MQSB=0.122456;RPB=0.980001;SF=0,6,20,23,24;SGB=-0.616816;VDB=0.184377	GT:DP:DV:PL	0/1:17:6:118,0,223	.	.	.	.	.	0/1:16:4:55,0,241	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:6:91,0,255	.	.	0/1:56:16:218,0,255	0/1:58:24:255,0,255	C	T	0	5	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152127793	rs72477387	T	C	222	PASS	RPTN	repetin	exonic	NM_001122965	.	synonymous SNV	RPTN:NM_001122965:exon3:c.A1782G:p.Q594Q	ENST00000316073.3	.	1q21.3	.	.	.	.	.	rs72477387	.	.	0.0664452	0.0704	0.014976	0.0003	0.0024	0.0296	0.0367534339969	0.0492788597356	.	.	.	.	.	.	.	.	0.650	1.129	.	2.38	AC=3;AN=6;BQB=0.54908;DP4=137,36,93,37;DP=390;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.981425;MQSB=0.993185;RPB=0.551198;SF=0,20,24;SGB=-0.693146;VDB=0.957127	GT:DP:DV:PL	0/1:99:44:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:105:41:255,0,255	.	.	.	0/1:99:45:255,0,255	T	C	0	3	Repetin	.	.	.	20448179|20448178|15854042	.	.	.	.	.	.	.	
L	1	152128838	rs75497821	T	A	222	PASS	RPTN	repetin	exonic	NM_001122965	.	missense SNV	RPTN:NM_001122965:exon3:c.A737T:p.H246L	ENST00000316073.3	.	1q21.3	.	.	.	.	.	rs75497821	.	.	0.0714286	0.0734	0.0157748	0.0003	0.0027	0.0323	0.0398162508423	0.0528846371394	0.685,T	0.0,B	0.0,B	1,N	0.017616,N	-1.32,N	2.68,T	0.1911	-0.166	-0.843	.	.	AC=5;AN=10;BQB=0.996791;DP4=48,54,38,58;DP=233;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.860631;SF=0,6,20,23,24;SGB=-0.689466;VDB=0.0948602	GT:DP:DV:PL	0/1:41:16:255,0,255	.	.	.	.	.	0/1:47:23:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:23:255,0,255	.	.	0/1:36:21:255,0,255	0/1:32:13:255,0,255	T	A	0	5	Repetin	.	.	.	20448179|20448178|15854042	.	.	.	.	.	.	.	
L	1	152187935	rs61814938	C	T	132.91	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.G6170A:p.R2057Q	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.979773;Name=chr1:152188549	.	rs61814938	.	.	.	.	.	.	0.0093	0.0319	.	.	0.972,T	0.001,B	0.006,B	1,N	.	-0.205,N	4.86,T	5.2967	-0.493	-1.463	.	.	AC=5;AN=10;BQB=0.306238;DP4=573,268,486,4;DP=1727;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=6.99866e-14;MQSB=5.91061e-19;RPB=1.06864e-36;SF=5,7,14,20,23;SGB=-0.693147;VDB=1.656e-27	GT:DP:DV:PL	.	.	.	.	.	0/1:349:97:65,0,255	.	0/1:165:46:92,0,255	.	.	.	.	.	.	0/1:314:134:211,0,255	.	.	.	.	.	0/1:342:144:216,0,255	.	.	0/1:161:69:247,0,255	.	C	T	0	5	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	
L	1	152191809	rs142594836	C	T	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.G2296A:p.G766S	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152192049	.	rs142594836	.	.	0.0215947	0.0238	0.00519169	7.7e-05	0.0024	0.0333	0.0215947	0.0204327024038	0.141,T	0.01,B	0.084,B	1,N	.	1.555,L	3.5,T	7.9551	-1.354	-0.599	.	.	AC=1;AN=2;BQB=0.0879376;DP4=106,49,68,44;DP=349;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981448;SF=20;SGB=-0.693147;VDB=0.97527	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:267:112:255,0,255	.	.	.	.	C	T	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	
L	1	152193390	rs187389918	C	A	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.G715T:p.G239W	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	rs187389918	.	.	.	.	.	.	8.236e-06	0	.	.	0.011,D	0.973,D	0.999,D	1,N	.	2.565,M	3.34,T	3.7536	-0.323	-0.345	.	.	AC=1;AN=2;BQB=0.810135;DP4=97,69,102,57;DP=431;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=4.07389e-07;MQSB=0.933368;RPB=0.510114;SF=20;SGB=-0.693147;VDB=0.717882	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:325:159:255,0,255	.	.	.	.	C	A	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152193402	rs780373785	T	C	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.A703G:p.K235E	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	rs780373785	.	.	.	.	.	.	2.471e-05	0	.	.	1.0,T	0.0,B	0.0,B	1,N	.	-2.075,N	3.8,T	2.3782	-3.140	-4.484	.	.	AC=1;AN=2;BQB=0.77344;DP4=97,64,98,52;DP=411;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=5.23312e-08;MQSB=0.765605;RPB=0.014461;SF=20;SGB=-0.693147;VDB=0.0108421	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:311:150:255,0,255	.	.	.	.	T	C	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152193406	rs755052507	T	G	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.A699C:p.Q233H	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	rs755052507	.	.	.	.	.	.	2.471e-05	0	.	.	0.218,T	0.017,B	0.053,B	1,N	.	0.325,N	3.47,T	1.8914	-2.317	-2.172	.	.	AC=1;AN=2;BQB=0.995683;DP4=95,65,94,55;DP=402;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=2.12888e-07;MQSB=0.605295;RPB=0.0818054;SF=20;SGB=-0.693147;VDB=0.00629228	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:309:149:255,0,255	.	.	.	.	T	G	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152193411	rs781244045	T	C	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	missense SNV	HRNR:NM_001009931:exon3:c.A694G:p.S232G	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	rs781244045	.	.	.	.	.	.	3.295e-05	0	.	.	0.725,T	0.0,B	0.0,B	1,N	.	-1.74,N	2.8,T	6.3221	-1.463	-5.014	.	.	AC=1;AN=2;BQB=0.869912;DP4=96,63,98,54;DP=405;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=1.41459e-07;MQSB=0.624456;RPB=0.0222787;SF=20;SGB=-0.693147;VDB=0.0185382	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:311:152:255,0,255	.	.	.	.	T	C	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152193415	rs748425764	G	T	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	synonymous SNV	HRNR:NM_001009931:exon3:c.C690A:p.G230G	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	rs748425764	.	.	.	.	.	.	8.238e-06	0	.	.	.	.	.	.	.	.	.	.	-3.000	-1.068	.	.	AC=1;AN=2;BQB=0.437317;DP4=99,57,98,54;DP=401;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=2.35584e-07;MQSB=0.425101;RPB=0.0427552;SF=20;SGB=-0.693147;VDB=0.0143948	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:308:152:255,0,255	.	.	.	.	G	T	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152193427	.	G	A	222	PASS	HRNR	hornerin	exonic	NM_001009931	.	synonymous SNV	HRNR:NM_001009931:exon3:c.C678T:p.G226G	ENST00000593011.1,ENST00000368801.2,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.919886;Name=chr1:152190651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.937	-4.748	.	.	AC=1;AN=2;BQB=0.881427;DP4=91,62,98,53;DP=410;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=2.63408e-05;MQSB=0.733246;RPB=0.325248;SF=20;SGB=-0.693147;VDB=0.00959686	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:304:151:255,0,255	.	.	.	.	G	A	0	1	Hornerin	.	.	.	15507446	.	.	.	.	.	.	.	PM2
L	1	152281866	rs187802033	C	T	222	PASS	FLG	filaggrin	exonic	NM_002016	.	synonymous SNV	FLG:NM_002016:exon3:c.G5496A:p.S1832S	ENST00000368799.1,ENST00000593011.1,ENST00000420707.1	.	1q21.3	.	.	.	Score=0.929016;Name=chr1:152275831	.	rs187802033	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0012	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.217	-0.921	1.064248,11.02	.	AC=1;AN=2;BQB=0.993675;DP4=39,47,31,51;DP=200;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.966715;SF=20;SGB=-0.693147;VDB=0.179852	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:168:82:255,0,255	.	.	.	.	C	T	0	1	Ichthyosis vulgaris, 146700 (3); {Dermatitis, atopic, susceptibility to, 2}, 605803 (3)	.	.	.	22407025|21531719|19663875|19384417|19349982|17417636|17291859|17030239|16815158|16550169|16444271|15590704|12582320|8276421|7835895|6174530|4132224|2740331|2579164|2248957|1429717	.	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	
L	1	152487910	rs200242493	G	T	179	PASS	CRCT1	cysteine-rich C-terminal 1	exonic	NM_019060	.	synonymous SNV	CRCT1:NM_019060:exon2:c.G51T:p.S17S	ENST00000368790.3	.	1q21.3	.	.	Score=941;Name=V$IK2_01	.	.	rs200242493	.	.	0.00996678	0.0079	0.00179712	.	0.0004	0.0032	0.00535987623277	0.00996678	.	.	.	.	.	.	.	.	-1.592	-0.052	.	.	AC=1;AN=2;BQB=0.799679;DP4=13,5,6,3;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960777;SF=20;SGB=-0.662043;VDB=0.0184017	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:9:213,0,255	.	.	.	.	G	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	1	152882979	rs17855670	C	T	99.51	PASS	IVL	involucrin	exonic	NM_005547	.	missense SNV	IVL:NM_005547:exon2:c.C706T:p.P236S	ENST00000368764.3,ENST00000392667.2	.	1q21.3	.	.	.	.	Score=325;Name="259399:(CAG)n(Simple_repeat)"	rs17855670	.	.	.	.	.	.	.	.	.	0.00434783	0.373,T	0.003,B	0.0,B	1,N	.	1.04,L	2.82,T	4.7558	-0.341	0.107	.	.	AC=21;AN=42;BQB=0.920044;DP4=163,108,192,7;DP=684;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.6435;MQSB=0.882497;RPB=0.544711;SF=0,1,3,4,5,6,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.662043;VDB=0.0809605	GT:DP:DV:PL	0/1:19:9:166,0,209	0/1:19:14:172,0,47	.	0/1:32:5:61,0,255	0/1:15:11:155,0,39	0/1:15:3:69,0,255	0/1:30:9:130,0,255	.	.	0/1:13:6:128,0,192	0/1:17:12:172,0,33	0/1:20:14:181,0,37	0/1:15:6:116,0,140	0/1:45:11:149,0,255	0/1:32:6:76,0,255	0/1:28:10:167,0,255	0/1:35:11:124,0,255	0/1:22:16:161,0,74	0/1:13:5:94,0,98	0/1:25:19:176,0,74	0/1:20:6:75,0,217	0/1:29:7:90,0,255	0/1:10:6:145,0,23	0/1:16:13:207,0,22	.	C	T	0	21	Involucrin	.	.	.	8550612|8317493|8276421|8104707|7762559|2919176|2873896|2574003|1674722|1359382	BIOPOLYMER_METABOLIC_PROCESS;RESPONSE_TO_LIGHT_STIMULUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;KERATINOCYTE_DIFFERENTIATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CORNIFIED_ENVELOPE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;PROTEIN_BINDING_BRIDGING	.	PID_FRA_PATHWAY	.	.	
L	1	152882981	rs62637699	A	T	108.52	PASS	IVL	involucrin	exonic	NM_005547	.	synonymous SNV	IVL:NM_005547:exon2:c.A708T:p.P236P	ENST00000368764.3,ENST00000392667.2	.	1q21.3	.	.	.	.	Score=325;Name="259399:(CAG)n(Simple_repeat)"	rs62637699	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-0.637	-2.509	.	.	AC=23;AN=44;BQB=0.266194;DP4=173,87,217,10;DP=732;HOB=0.5;ICB=1;MQ0F=0;MQ=48;MQB=0.686279;MQSB=0.391606;RPB=0.182684;SF=0,1,3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.670168;VDB=0.0444992	GT:DP:DV:PL	0/1:16:10:160,0,134	0/1:23:19:180,0,19	.	0/1:27:6:105,0,255	0/1:14:11:150,0,24	0/1:15:3:57,0,255	0/1:29:10:170,0,255	0/1:29:7:100,0,235	.	0/1:15:6:112,0,196	0/1:19:14:173,0,74	1/1:21:17:191,1,0	0/1:15:8:138,0,66	0/1:38:8:80,0,255	0/1:34:7:127,0,249	0/1:26:10:156,0,255	0/1:33:12:182,0,236	0/1:23:18:183,0,64	0/1:15:8:129,0,92	0/1:25:19:179,0,85	0/1:15:6:99,0,164	0/1:29:8:108,0,255	0/1:9:6:142,0,22	0/1:17:14:211,0,18	.	A	T	1	21	Involucrin	.	.	.	8550612|8317493|8276421|8104707|7762559|2919176|2873896|2574003|1674722|1359382	BIOPOLYMER_METABOLIC_PROCESS;RESPONSE_TO_LIGHT_STIMULUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;KERATINOCYTE_DIFFERENTIATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CORNIFIED_ENVELOPE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;PROTEIN_BINDING_BRIDGING	.	PID_FRA_PATHWAY	.	.	
L	1	152975715	rs28989168	C	T	159.95	PASS	SPRR3	small proline-rich protein 3	exonic	NM_001097589,NM_005416	.	synonymous SNV	SPRR3:NM_001097589:exon2:c.C219T:p.G73G,SPRR3:NM_005416:exon3:c.C219T:p.G73G	ENST00000295367.4,ENST00000331860.3,ENST00000542696.1	.	1q21.3	.	.	.	.	.	rs28989168	.	.	0	.	0.000399361	.	0.0168	0.0273	.	0.0695652	.	.	.	.	.	.	.	.	-0.764	0.228	.	.	AC=22;AN=44;BQB=0.973353;DP4=210,143,65,220;DP=752;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0894312;SF=0,1,2,3,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23;SGB=-0.670168;VDB=0.0136563	GT:DP:DV:PL	0/1:31:10:193,0,255	0/1:29:18:255,0,204	0/1:34:9:151,0,255	0/1:40:11:170,0,255	.	.	0/1:32:11:156,0,255	0/1:32:11:144,0,255	0/1:26:18:228,0,145	0/1:17:12:216,0,90	0/1:27:17:255,0,169	0/1:33:7:68,0,255	0/1:26:8:131,0,255	0/1:28:7:88,0,255	0/1:25:16:215,0,177	0/1:36:13:214,0,255	0/1:29:15:255,0,248	0/1:19:13:248,0,110	0/1:22:15:216,0,145	0/1:29:17:255,0,221	0/1:31:17:255,0,184	0/1:54:12:160,0,255	0/1:13:8:233,0,104	0/1:25:20:158,0,85	.	C	T	0	22	Small proline-rich protein 3	.	.	.	8325635	RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;RESPONSE_TO_WOUNDING	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
L	1	152975739	rs17851565	T	A	117.03	PASS	SPRR3	small proline-rich protein 3	exonic	NM_001097589,NM_005416	.	synonymous SNV	SPRR3:NM_001097589:exon2:c.T243A:p.G81G,SPRR3:NM_005416:exon3:c.T243A:p.G81G	ENST00000295367.4,ENST00000331860.3,ENST00000542696.1	.	1q21.3	.	.	.	.	.	rs17851565	.	.	.	.	.	.	2.57e-05	0.0001	.	0.0304348	.	.	.	.	.	.	.	.	0.279	-1.149	.	2.26	AC=20;AN=40;BQB=0.629483;DP4=225,113,60,120;DP=651;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.024338;SF=0,1,2,3,6,7,8,9,10,12,14,15,16,17,18,19,20,21,22,23;SGB=-0.556411;VDB=0.077463	GT:DP:DV:PL	0/1:34:4:60,0,255	0/1:32:17:248,0,199	0/1:35:6:78,0,255	0/1:31:6:111,0,255	.	.	0/1:26:6:84,0,255	0/1:22:10:170,0,247	0/1:19:9:151,0,214	0/1:17:8:182,0,186	0/1:19:8:138,0,213	.	0/1:24:6:94,0,255	.	0/1:21:9:165,0,219	0/1:32:13:217,0,255	0/1:27:11:209,0,255	0/1:20:9:191,0,198	0/1:18:10:173,0,180	0/1:32:16:215,0,255	0/1:25:6:116,0,217	0/1:48:9:80,0,255	0/1:15:6:165,0,176	0/1:21:11:168,0,179	.	T	A	0	20	Small proline-rich protein 3	.	.	.	8325635	RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;RESPONSE_TO_WOUNDING	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
L	1	152975763	rs1977734	C	T	190.61	PASS	SPRR3	small proline-rich protein 3	exonic	NM_001097589,NM_005416	.	synonymous SNV	SPRR3:NM_001097589:exon2:c.C267T:p.G89G,SPRR3:NM_005416:exon3:c.C267T:p.G89G	ENST00000295367.4,ENST00000331860.3,ENST00000542696.1	.	1q21.3	.	.	.	.	.	rs1977734	.	.	.	.	.	.	0.0002	0	.	0.00434783	.	.	.	.	.	.	.	.	0.461	-0.125	.	.	AC=33,2;AN=46;BQB=0.873352;DP4=167,64,280,156;DP=835;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.260031;SF=0,1,2,3,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.00123094	GT:DP:DV:PL	0/1:31:18:255,0,212,.,.,.	1/1:26:25:255,36,0,.,.,.	0/1:37:15:231,0,255,.,.,.	0/1:40:18:242,0,255,.,.,.	.	.	0/1:35:14:187,0,255,.,.,.	0/1:32:12:209,0,255,.,.,.	1/2:24:24:255,163,109,255,0,255	1/1:20:20:255,57,0,.,.,.	1/1:20:19:255,47,32,.,.,.	0/1:29:10:176,0,255,.,.,.	0/1:31:15:185,0,255,.,.,.	0/1:36:18:221,0,255,.,.,.	1/1:21:21:255,64,6,.,.,.	0/1:32:15:179,0,255,.,.,.	1/1:31:31:255,108,27,.,.,.	1/1:23:23:255,88,31,.,.,.	1/2:21:20:255,79,37,255,0,255	1/1:28:28:255,78,0,.,.,.	1/1:24:24:255,69,0,.,.,.	0/1:54:26:255,0,255,.,.,.	1/1:12:12:255,63,33,.,.,.	1/1:20:20:255,81,29,.,.,.	0/1:40:8:96,0,255,.,.,.	C	A,T	10	13	Small proline-rich protein 3	.	.	.	8325635	RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;RESPONSE_TO_WOUNDING	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
H	1	153043257	rs201846429	G	A	157	PASS	SPRR2B	small proline-rich protein 2B	exonic	NM_001017418	.	missense SNV	SPRR2B:NM_001017418:exon2:c.C59T:p.T20M	ENST00000341611.2,ENST00000368755.2,ENST00000368752.4	.	1q21.3	.	.	.	.	.	rs201846429	.	.	0.0348837	0.0347	0.00698882	.	0.0032	0.0421	0.0348837	0.0324519199519	.	0.007,B	0.022,B	1,N	0.820505,N	.	1.34,T	6.9649	1.539	0.423	.	2.35	AC=4;AN=6;BQB=0.986538;DP4=10,6,7,27;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.904971;MQSB=0.0910864;RPB=0.333596;SF=10,14,20;SGB=-0.690438;VDB=0.0235579	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:28:17:211,0,158	.	.	.	0/1:12:7:149,0,110	.	.	.	.	.	1/1:10:10:204,30,0	.	.	.	.	G	A	1	2	Small proline-rich protein 2B	.	.	.	8325635	MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;RHYTHMIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EMBRYO_IMPLANTATION;OVULATION_CYCLE;REPRODUCTION	.	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
H	1	153066169	rs199633606	G	A	56.93	PASS	SPRR2E	small proline-rich protein 2E	exonic	NM_001024209	.	missense SNV	SPRR2E:NM_001024209:exon2:c.C59T:p.T20M	ENST00000368752.4,ENST00000368750.3,ENST00000368751.1	.	1q21.3	.	.	.	.	.	rs199633606	.	.	.	.	.	.	0.0019	0.0259	.	0.0434783	.	0.001,B	0.001,B	1,N	0.844110,N	.	1.34,T	4.9382	0.480	0.761	.	.	AC=2;AN=4;BQB=0.562801;DP4=36,37,17,1;DP=125;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.587745;MQSB=0.997672;RPB=0.650194;SF=10,20;SGB=-0.636426;VDB=0.372161	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:35:7:80,0,255	.	.	.	.	.	.	.	.	.	0/1:56:11:105,0,255	.	.	.	.	G	A	0	2	.	.	.	.		MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;RHYTHMIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EMBRYO_IMPLANTATION;OVULATION_CYCLE;REPRODUCTION	CYTOPLASM	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
L	1	153317728	rs118181564	G	A	222	PASS	PGLYRP4	peptidoglycan recognition protein 4	exonic	NM_020393	.	synonymous SNV	PGLYRP4:NM_020393:exon4:c.C270T:p.H90H	ENST00000368739.3,ENST00000359650.5,ENST00000490266.1	.	1q21.3	.	.	.	.	.	rs118181564	.	.	0.0598007	0.0496	0.0103834	7.7e-05	0.0036	0.0462	0.0490045958652	0.0528846387019	.	.	.	.	.	.	.	.	-1.425	-2.084	.	.	AC=1;AN=2;BQB=0.903663;DP4=19,7,21,7;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.796186;SF=20;SGB=-0.693054;VDB=0.402009	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:28:255,0,255	.	.	.	.	G	A	0	1	Peptidoglycan recognition protein, intermediate, beta	.	.	.	21602801|16362825|11461926	MULTI_ORGANISM_PROCESS;DEFENSE_RESPONSE;DETECTION_OF_STIMULUS;RESPONSE_TO_BACTERIUM;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;DEFENSE_RESPONSE_TO_BACTERIUM;RESPONSE_TO_EXTERNAL_STIMULUS;DETECTION_OF_BIOTIC_STIMULUS;DETECTION_OF_EXTERNAL_STIMULUS	.	RECEPTOR_ACTIVITY;PATTERN_RECOGNITION_RECEPTOR_ACTIVITY;PATTERN_BINDING	.	.	.	.	
L	1	154942529	rs8191982	G	A	222	PASS	SHC1	SHC (Src homology 2 domain containing) transforming protein 1	exonic	NM_001130040,NM_001130041,NM_001202859,NM_003029,NM_183001	.	synonymous SNV	SHC1:NM_001130040:exon1:c.C474T:p.P158P,SHC1:NM_183001:exon1:c.C474T:p.P158P,SHC1:NM_001130041:exon2:c.C144T:p.P48P,SHC1:NM_001202859:exon2:c.C9T:p.P3P,SHC1:NM_003029:exon2:c.C144T:p.P48P	ENST00000368449.4,ENST00000368450.1,ENST00000368453.4,ENST00000368445.5,ENST00000606391.1,ENST00000448116.2	.	1q21.3	.	.	Score=950;Name=V$CREL_01	.	.	rs8191982	.	.	0.0398671	0.0367	0.00738818	.	0.0026	0.0358	0.0352220476263	0.0384615290865	.	.	.	.	.	.	.	.	-2.445	-3.495	1.160981,11.54	.	AC=2;AN=4;BQB=0.419636;DP4=68,20,59,23;DP=228;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982147;SF=3,20;SGB=-0.693132;VDB=0.241595	GT:DP:DV:PL	.	.	.	0/1:74:34:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:96:48:255,0,255	.	.	.	.	G	A	0	2	SHC (Src homology 2 domain-containing) transforming protein-1	.	.	.	23846654|17272725|12101399|11884717|10580504|10372739|9192859|7806213|7635484|1623525|1409579	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_SIGNAL_TRANSDUCTION;ACTIVATION_OF_MAPK_ACTIVITY;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;PROTEIN_KINASE_CASCADE;EPIDERMAL_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;INTRACELLULAR_SIGNALING_CASCADE	MEMBRANE;PLASMA_MEMBRANE	LIPID_BINDING;PHOSPHOLIPID_BINDING;MOLECULAR_ADAPTOR_ACTIVITY;PROTEIN_COMPLEX_BINDING;INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_BINDING;RECEPTOR_BINDING;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GLIOMA;KEGG_CHRONIC_MYELOID_LEUKEMIA	PID_FCER1PATHWAY;PID_BCR_5PATHWAY;PID_ERBB4_PATHWAY;PID_INSULIN_PATHWAY;PID_GMCSF_PATHWAY;PID_IL4_2PATHWAY;PID_TCR_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_MET_PATHWAY;PID_PTP1BPATHWAY;PID_EPHBFWDPATHWAY;PID_RET_PATHWAY;PID_CD8TCRPATHWAY;PID_TCPTP_PATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_SHP2_PATHWAY;PID_IL2_1PATHWAY;PID_IGF1_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_IL2_PI3KPATHWAY;PID_P75NTRPATHWAY;PID_ERBB2ERBB3PATHWAY;PID_IL3_PATHWAY;PID_PDGFRBPATHWAY;PID_TRKRPATHWAY;PID_PDGFRAPATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_KITPATHWAY;PID_EPOPATHWAY;PID_IL2_STAT5PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_PI3KPLCTRKPATHWAY;PID_EPHA2_FWDPATHWAY;PID_LYMPHANGIOGENESIS_PATHWAY;PID_FGF_PATHWAY;PID_TGFBRPATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_BCR_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_EGF_PATHWAY;BIOCARTA_EPO_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_FCER1_PATHWAY;BIOCARTA_GH_PATHWAY;BIOCARTA_IGF1_PATHWAY;BIOCARTA_IL2_PATHWAY;BIOCARTA_IL3_PATHWAY;BIOCARTA_IL4_PATHWAY;BIOCARTA_IL6_PATHWAY;BIOCARTA_IL2RB_PATHWAY;BIOCARTA_INSULIN_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY;BIOCARTA_PYK2_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_NGF_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PDGF_PATHWAY;BIOCARTA_PTEN_PATHWAY;BIOCARTA_HER2_PATHWAY;BIOCARTA_ERK5_PATHWAY;BIOCARTA_SPRY_PATHWAY;BIOCARTA_TCR_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY;BIOCARTA_TPO_PATHWAY;BIOCARTA_TFF_PATHWAY;BIOCARTA_TRKA_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_CONSTITUTIVELY_ACTIVE_EGFR;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_SHC1_EVENTS_IN_ERBB4_SIGNALING;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALLING_TO_RAS;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALLING_TO_ERKS;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SHC1_EVENTS_IN_EGFR_SIGNALING;REACTOME_TIE2_SIGNALING;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_DIABETES_PATHWAYS;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_ILS;REACTOME_IL_3_5_AND_GM_CSF_SIGNALING;REACTOME_IL_RECEPTOR_SHC_SIGNALING;REACTOME_IL_2_SIGNALING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_SIGNAL_ATTENUATION;REACTOME_HEMOSTASIS;REACTOME_SHC_MEDIATED_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_SHC_RELATED_EVENTS	
L	1	155658184	rs184679972	C	A	217.33	PASS	YY1AP1	YY1 associated protein 1	exonic	NM_001198903,NM_001198904	.	synonymous SNV	YY1AP1:NM_001198903:exon1:c.G72T:p.V24V,YY1AP1:NM_001198904:exon1:c.G72T:p.V24V	ENST00000471642.2,ENST00000407221.1,ENST00000404643.1,ENST00000452804.2,ENST00000538143.1,ENST00000359205.5,ENST00000355499.4,ENST00000368330.2,ENST00000295566.4,ENST00000347088.5,ENST00000476093.1,ENST00000368339.5,ENST00000361831.5,ENST00000405763.3,ENST00000368340.5	CpG: 128	1q22	.	.	.	Score=0.945187;Name=chr1:155528928	.	rs184679972	.	.	0.0348837	0.0268	0.00539137	.	0.0010	0.0326	0.0284091	0.0288461447115	.	.	.	.	.	.	.	.	-0.188	0.361	1.099668,11.21	.	AC=3;AN=6;BQB=0.238245;DP4=30,46,28,42;DP=192;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.932421;SF=3,19,20;SGB=-0.692352;VDB=0.160526	GT:DP:DV:PL	.	.	.	0/1:48:21:241,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:23:255,0,255	0/1:46:26:255,0,255	.	.	.	.	C	A	0	3	YY1 associated protein 1	.	.	.	16545939|11710830	.	.	.	.	.	.	.	
L	1	155911557	rs145700306	C	T	222	PASS	RXFP4	relaxin/insulin-like family peptide receptor 4	exonic	NM_181885	.	synonymous SNV	RXFP4:NM_181885:exon1:c.C57T:p.S19S	ENST00000368318.3	.	1q22	.	.	.	.	.	rs145700306	.	.	0.00332226	0.002	0.000399361	0.0003	0.0002	0.0005	0.00229708830015	0.0036057709375	.	.	.	.	.	.	.	.	-0.100	-0.544	1.954574,15.93	.	AC=1;AN=2;BQB=0.763147;DP4=24,11,36,8;DP=111;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.966378;SF=20;SGB=-0.693146;VDB=0.200476	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:44:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
H	1	155990670	.	C	G	140	PASS	SSR2	signal sequence receptor, beta (translocon-associated protein beta)	splicing	NM_003145	.	.	.	ENST00000295702.4,ENST00000496742.1,ENST00000529008.1,ENST00000480567.1	CpG: 33	1q22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.933	-2.837	.	.	AC=1;AN=2;BQB=0.998399;DP4=15,1,8,1;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968069;SF=20;SGB=-0.662043;VDB=0.0824373	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:9:173,0,234	.	.	.	.	C	G	0	1	Signal sequence receptor, beta	.	.	.	7789174	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;PROTEIN_TARGETING_TO_MEMBRANE;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;INTEGRAL_TO_MEMBRANE	PEPTIDE_BINDING;SIGNAL_SEQUENCE_BINDING	.	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_METABOLISM_OF_PROTEINS	PM2
L	1	156108491	rs117939448	C	T	222	PASS	LMNA	lamin A/C	exonic	NM_001257374,NM_170707,NM_170708	.	synonymous SNV	LMNA:NM_170708:exon10:c.C1821T:p.F607F,LMNA:NM_001257374:exon11:c.C1575T:p.F525F,LMNA:NM_170707:exon11:c.C1911T:p.F637F	ENST00000347559.2,ENST00000368299.3,ENST00000496738.1,ENST00000448611.2,ENST00000368300.4,ENST00000473598.2	.	1q22	.	.	Score=750;Name=V$HEN1_02	.	.	rs117939448	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000041337.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0282392	0.0218	0.00479233	0.0002	0.0006	0.0059	0.0160796322205	0.0228365359375	.	.	.	.	.	.	.	.	2.430	-0.262	2.536641,19.70	3.7	AC=1;AN=2;BQB=0.745633;DP4=27,18,21,14;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.930964;SF=20;SGB=-0.693136;VDB=0.397274	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:35:255,0,255	.	.	.	.	C	T	0	1	Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 2, 151660 (3); Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3); Charcot-Marie-Tooth disease, type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3)	.	.	.	25649378|24203701|23666920|23644458|23498943|23313286|23243001|23048029|22541428|22431096|22308344|22065502|21346760|21173262|21085127|20848652|20421363|20127487|19933576|19764019|19283854|19172989|19084400|18927124|18769635|18611980|18551513|18478590|18348272|18311132|17935239|17881656|17848409|17711925|17652517|17536044|17469202|17467691|17446932|17377071|17291448|17250669|17150192|17139325|17136397|16862216|16738054|16645051|16636128|16492728|16481476|16415042|16407522|16278265|16208517|16186497|16174718|16129834|16129833|16126733|16115815|16014412|15998779|15996213|15972724|15961312|15952983|15843432|15843404|15843403|15793835|15770669|15750600|15668447|15622532|15548545|15531479|15367494|15342704|15317753|15286156|15184648|15148145|15060110|15032975|14755334|14749366|14627682|14615128|12927431|12927424|12920062|12788894|12784312|12768443|12748643|12714972|12702809|12673789|12629077|12628721|12196663|12075506|11929849|11799477|11792811|11503164|11397881|11344241|11231979|11102973|11015599|10999791|10814726|10739764|10739751|10662742|10655060|10655047|10587585|10580070|10080180|8838815|8621584|8344919|8175923|3501373|3462705|3453101|3426582|2583287|2415378	.	.	.	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	PID_CASPASE_PATHWAY	BIOCARTA_CASPASE_PATHWAY;BIOCARTA_FAS_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_DEATH_PATHWAY;BIOCARTA_TNFR1_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_APOPTOSIS;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	
H	1	157667667	rs140651912	T	C	222	PASS	FCRL3	Fc receptor-like 3	exonic	NM_052939	.	missense SNV	FCRL3:NM_052939:exon5:c.A341G:p.D114G	ENST00000473231.1,ENST00000368184.3,ENST00000368186.5	.	1q23.1	.	.	.	.	.	rs140651912	.	.	0.0149502	0.0208	0.00419329	7.7e-05	0.0005	0.0064	0.00842268073507	0.0149502	0.001,D	0.951,D	0.998,D	0.867975,N	0.002777,U	2.97,M	5.73,T	13.4494	2.279	2.259	4.351070,24.1	5.41	AC=1;AN=2;BQB=0.976309;DP4=9,5,6,5;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996634;SF=20;SGB=-0.676189;VDB=0.0636945	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:11:255,0,255	.	.	.	.	T	C	0	1	Fc receptor-like protein 3	.	.	.	17952073|15838509|11493702	.	.	.	.	.	.	.	
H	1	157771855	rs142278474	C	T	222	PASS	FCRL1	Fc receptor-like 1	exonic	NM_001159397,NM_001159398,NM_052938	.	missense SNV	FCRL1:NM_001159397:exon5:c.G736A:p.D246N,FCRL1:NM_001159398:exon5:c.G736A:p.D246N,FCRL1:NM_052938:exon5:c.G736A:p.D246N	ENST00000489998.1,ENST00000491942.1,ENST00000358292.3,ENST00000368176.3	.	1q23.1	.	.	.	.	.	rs142278474	.	.	0.0166113	0.0208	0.00419329	.	0.0005	0.0067	0.00918836388974	0.0166113	0.475,T	0.283,B	0.808,P	1,N	0.558879,N	0.845,L	3.98,T	7.5547	-0.152	-0.337	.	.	AC=1;AN=2;BQB=0.590867;DP4=37,17,35,16;DP=150;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.845069;SF=20;SGB=-0.693147;VDB=0.236271	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:105:51:255,0,255	.	.	.	.	C	T	0	1	Fc receptor-like protein 1	.	.	.	11493702	.	.	.	.	.	.	.	
L	1	158450142	rs117155388	C	T	222	PASS	OR10R2	olfactory receptor, family 10, subfamily R, member 2	exonic	NM_001004472	.	stopgain	OR10R2:NM_001004472:exon1:c.C475T:p.Q159X	ENST00000368152.1,ENST00000426251.1,ENST00000419738.1	.	1q23.1	.	.	.	.	.	rs117155388	.	.	0.0232558	0.0179	0.0123802	0.0018	0.0112	0.0244	0.0260336891271	0.0180288371394	.	.	.	1,D	.	.	.	12.77	0.088	-3.396	8.102734,35	.	AC=2;AN=4;BQB=0.999076;DP4=32,33,37,29;DP=168;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.952102;SF=18,20;SGB=-0.693139;VDB=0.057952	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:36:255,0,255	.	0/1:63:30:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
M	1	160062408	rs532334551	T	C	222	PASS	IGSF8	immunoglobulin superfamily, member 8	exonic	NM_001206665,NM_052868	.	missense SNV	IGSF8:NM_052868:exon5:c.A1390G:p.I464V,IGSF8:NM_001206665:exon6:c.A1390G:p.I464V	ENST00000368086.1,ENST00000314485.7	.	1q23.2	.	.	.	.	.	rs532334551	.	.	0.00166113	0.002	0.000399361	.	0.0001	0.0019	0.001531391317	0.00166113	1.0,T	0.008,B	0.009,B	0.991326,N	0.093014,U	0.19,N	2.16,T	4.2597	1.210	0.743	.	2.98	AC=2;AN=4;BQB=0.797422;DP4=37,28,35,21;DP=160;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.358072;SF=14,20;SGB=-0.692717;VDB=0.0944529	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:23:255,0,255	.	.	.	.	.	0/1:55:33:255,0,255	.	.	.	.	T	C	0	2	Immunoglobulin superfamily, member 8	.	.	.	11673522|11504738	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	.	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN_A4B1_PATHWAY	.	.	
H	1	160650966	rs187213919	C	G	222	PASS	CD48	CD48 molecule	exonic	NM_001256030	.	missense SNV	CD48:NM_001256030:exon3:c.G678C:p.R226S	ENST00000598917.2,ENST00000368046.3,ENST00000443928.2,ENST00000588034.1	.	1q23.3	.	.	.	.	.	rs187213919	.	.	0.00498339	0.006	0.00139776	.	0.0002	0.0024	0.00306278528331	0.00498339	.	.	.	.	.	.	.	.	0.509	-0.067	.	.	AC=1;AN=2;BQB=0.499352;DP4=14,7,11,3;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959869;SF=20;SGB=-0.686358;VDB=0.214264	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:14:255,0,255	.	.	.	.	C	G	0	1	CD48 antigen (B-cell membrane protein)	.	.	.	10975798|9841922|6291768|1301170	DEFENSE_RESPONSE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;LIPID_RAFT;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_HEMOSTASIS	
M	1	167814812	rs200638309	T	C	165.5	PASS	ADCY10	adenylate cyclase 10 (soluble)	exonic	NM_001167749,NM_001297772,NM_018417	.	missense SNV	ADCY10:NM_001167749:exon18:c.A2537G:p.H846R,ADCY10:NM_001297772:exon21:c.A2720G:p.H907R,ADCY10:NM_018417:exon21:c.A2996G:p.H999R	ENST00000367848.1,ENST00000367851.4,ENST00000545172.1	.	1q24.2	.	.	.	.	.	rs200638309	.	.	0.00498339	0.003	0.000599042	.	0.0003	0.0049	0.00382848500766	0.00480769432692	0.153,T	0.006,B	0.005,B	1,N	0.418610,N	0.895,L	1.56,T	12.406	-1.155	0.122	.	.	AC=2;AN=4;BQB=0.934728;DP4=20,5,10,7;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.904084;SF=9,20;SGB=-0.662043;VDB=0.577326	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:19:9:223,0,206	.	.	.	.	.	.	.	.	.	.	0/1:23:8:175,0,255	.	.	.	.	T	C	0	2	{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)	.	.	.	16054031|11932268|10915626|10566627|9874775	.	CYTOPLASM;CELL_FRACTION;SOLUBLE_FRACTION	PHOSPHORUS_OXYGEN_LYASE_ACTIVITY;LYASE_ACTIVITY;CYCLASE_ACTIVITY	KEGG_PURINE_METABOLISM	.	.	.	
L	1	169697013	rs187194847	A	G	222	PASS	SELE	selectin E	exonic	NM_000450	.	synonymous SNV	SELE:NM_000450:exon9:c.T1335C:p.H445H	ENST00000333360.7,ENST00000367777.1,ENST00000367776.1,ENST00000367782.4,ENST00000367780.4,ENST00000498289.1,ENST00000367775.1,ENST00000367779.4,ENST00000367774.1,ENST00000367781.4	.	1q24.2	.	.	.	.	.	rs187194847	.	.	0.0199336	0.0129	0.00259585	.	0.0013	0.0163	0.0260337114855	0.0228365759615	.	.	.	.	.	.	.	.	-0.328	-0.246	.	.	AC=2;AN=4;BQB=0.505338;DP4=20,13,27,12;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990497;SF=18,20;SGB=-0.693021;VDB=0.810596	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:27:255,0,255	.	0/1:29:12:255,0,255	.	.	.	.	A	G	0	2	[Blood pressure regulation QTL], 145500 (2)	.	.	.	20147318|17236131|16982754|16282702|12624727|12421968|12391189|12189250|11828340|11231628|11168027|10419878|7533025|2466335|1717161|1703529|1694218	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	MEMBRANE;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_TXA2PATHWAY;PID_REG_GR_PATHWAY;PID_ATF2_PATHWAY	BIOCARTA_MONOCYTE_PATHWAY	.	
M	1	171086497	.	T	A	126	PASS	FMO3	flavin containing monooxygenase 3	exonic	NM_001002294,NM_006894	.	missense SNV	FMO3:NM_001002294:exon9:c.T1514A:p.L505H,FMO3:NM_006894:exon9:c.T1514A:p.L505H	ENST00000367755.4,ENST00000542847.1,ENST00000538429.1,ENST00000392085.2	.	1q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19,T	0.021,B	0.028,B	1,N	0.753921,N	0.295,N	0.57,T	1.1624	0.361	0.609	.	.	AC=1;AN=2;BQB=0.800737;DP4=8,10,2,4;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.923116;SF=20;SGB=-0.616816;VDB=0.210772	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:6:160,0,255	.	.	.	.	T	A	0	1	Trimethylaminuria, 602079 (3)	.	.	.	18423897|15922018|12938085|12893987|12228178|11809920|11266081|11191884|10485731|10479479|10376762|10338091|9536088|9417913|9398858|9207220|8654418|8486388|7720101|2203193|1542660|987532	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	.	KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	PM2
L	1	173743453	rs372597547	G	A	222	PASS	KLHL20	kelch-like family member 20	exonic	NM_014458	.	synonymous SNV	KLHL20:NM_014458:exon9:c.G1305A:p.P435P	ENST00000209884.4,ENST00000546011.1	.	1q25.1	.	.	.	.	.	rs372597547	.	.	0.00332226	0.004	0.000798722	.	0.0002	0.0027	0.00229708830015	0.0036057709375	.	.	.	.	.	.	.	.	-0.267	-0.317	1.378379,12.68	.	AC=1;AN=2;BQB=0.934868;DP4=14,4,20,2;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990804;SF=20;SGB=-0.692562;VDB=0.109714	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:22:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	CELL_SURFACE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	.	.	PID_ECADHERIN_NASCENTAJ_PATHWAY	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	
H	1	176845738	rs184121032	C	T	222	PASS	ASTN1	astrotactin 1	exonic	NM_001286164,NM_004319,NM_207108	.	missense SNV	ASTN1:NM_001286164:exon21:c.G3398A:p.R1133H,ASTN1:NM_004319:exon21:c.G3398A:p.R1133H,ASTN1:NM_207108:exon21:c.G3398A:p.R1133H	ENST00000367654.3,ENST00000367657.3,ENST00000361833.2,ENST00000424564.2	.	1q25.2	.	.	.	.	.	rs184121032	.	.	0.00664452	0.005	0.000998403	.	0.0002	0.0021	0.00842266444104	0.00664452	0.566,T	0.994,D	0.999,D	1,D	0.000000,D	0.695,N	2.49,T	18.3051	2.400	5.693	6.141993,28.4	5.19	AC=1;AN=2;BQB=0.57132;DP4=15,13,20,10;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986741;SF=20;SGB=-0.693097;VDB=0.0062039	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:30:255,0,255	.	.	.	.	C	T	0	1	Astrotactin 1	.	.	.		.	.	.	.	.	.	.	
L	1	180063526	rs148294536	T	C	160	PASS	CEP350	centrosomal protein 350kDa	exonic	NM_014810	.	synonymous SNV	CEP350:NM_014810:exon34:c.T8286C:p.F2762F	ENST00000367607.3,ENST00000490141.1	.	1q25.2	.	.	.	.	.	rs148294536	.	.	0.0215947	0.0169	0.00419329	0.0004	0.0036	0.0205	0.0283307833078	0.0192307865385	.	.	.	1,D	.	.	.	8.5104	0.452	2.598	.	3.12	AC=1;AN=2;BQB=0.539681;DP4=9,1,7,1;DP=25;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991158;SF=20;SGB=-0.651104;VDB=0.936663	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:8:193,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	1	181764046	rs764017933	G	A	228	PASS	CACNA1E	calcium channel, voltage-dependent, R type, alpha 1E subunit	exonic	NM_000721,NM_001205293,NM_001205294	.	missense SNV	CACNA1E:NM_001205294:exon44:c.G5888A:p.R1963Q,CACNA1E:NM_000721:exon45:c.G5945A:p.R1982Q,CACNA1E:NM_001205293:exon46:c.G6074A:p.R2025Q	ENST00000360108.3,ENST00000367570.1,ENST00000357570.5,ENST00000358338.5,ENST00000526775.1,ENST00000367567.4,ENST00000367573.2	.	1q25.3	.	.	Score=850;Name=V$GATA1_02	.	.	rs764017933	.	.	.	.	.	.	8.296e-06	0	.	.	0.339,T	0.283,B	0.942,P	0.736537,D	0.923924,N	1.39,L	-3.84,D	15.3878	2.793	4.185	5.794066,27.1	5.91	AC=2;AN=2;DP4=0,0,25,3;DP=44;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693054;VDB=0.952339	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:28:28:255,84,0	.	.	.	.	G	A	1	0	Calcium channel, voltage-dependent, alpha 1E subunit	.	.	.	15630454|11735114|9656471|8825650|8071363	CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	.	PM2
L	1	185094134	rs552294179	T	C	222	PASS	TRMT1L	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	exonic	NM_001202423,NM_030934	.	synonymous SNV	TRMT1L:NM_001202423:exon12:c.A1233G:p.S411S,TRMT1L:NM_030934:exon12:c.A1701G:p.S567S	ENST00000367504.3,ENST00000367506.5	.	1q25.3	.	.	Score=819;Name=V$GFI1_01	.	.	rs552294179	.	.	0.00332226	0.002	0.000399361	.	0.0001	0.0017	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-0.006	0.632	.	.	AC=3;AN=4;BQB=0.898944;DP4=11,0,26,9;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.988233;SF=9,20;SGB=-0.680642;VDB=0.670984	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:23:12:249,0,231	.	.	.	.	.	.	.	.	.	.	1/1:23:23:255,69,0	.	.	.	.	T	C	1	1	Trm1-like	.	.	.	17198746	.	.	.	.	.	.	.	
H	1	197056003	rs201191528	G	T	222	PASS	ASPM	abnormal spindle microtubule assembly	exonic	NM_001206846,NM_018136	.	missense SNV	ASPM:NM_001206846:exon26:c.C5506A:p.Q1836K,ASPM:NM_018136:exon27:c.C10261A:p.Q3421K	ENST00000367408.1,ENST00000367409.4,ENST00000294732.7	.	1q31.3	.	.	.	.	.	rs201191528	.	.	0.00332226	0.002	0.000399361	.	0.0002	0.0030	0.00382848235835	0.0036057709375	0.0,D	0.612,P	0.952,P	0.661209,D	0.000000,D	2.33,M	0.23,T	14.713	1.415	5.269	4.349657,24.1	4.86	AC=1;AN=2;BQB=0.859965;DP4=6,7,13,8;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.664766;SF=20;SGB=-0.692352;VDB=0.554696	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:21:255,0,255	.	.	.	.	G	T	0	1	Microcephaly 5, primary, autosomal recessive, 608716 (3)	.	.	.	22775483|20978018|20823249|19770472|19332161|19028728|18452193|17446375|17220170|17090670|16840683|16840683|16798874|16673149|16151010|16141009|15972725|15620360|15355437|14722158|14574646|12355089	.	.	.	.	.	.	.	PP3
H	1	197086932	rs755585801	G	A	105	PASS	ASPM	abnormal spindle microtubule assembly	exonic	NM_001206846,NM_018136	.	missense SNV	ASPM:NM_001206846:exon17:c.C4052T:p.A1351V,ASPM:NM_018136:exon17:c.C4052T:p.A1351V	ENST00000367408.1,ENST00000367409.4,ENST00000294732.7	.	1q31.3	.	.	.	.	.	rs755585801	.	.	.	.	.	.	8.279e-06	0.0001	.	.	0.009,D	0.976,D	0.999,D	0.999881,D	0.000967,D	2.46,M	-0.01,T	12.0325	2.695	4.719	5.131996,25.4	5.72	AC=1;AN=2;BQB=0.810265;DP4=2,1,4,0;DP=11;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.01283;MQSB=1;RPB=0.810265;SF=20;SGB=-0.556411;VDB=0.325692	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:4:138,0,130	.	.	.	.	G	A	0	1	Microcephaly 5, primary, autosomal recessive, 608716 (3)	.	.	.	22775483|20978018|20823249|19770472|19332161|19028728|18452193|17446375|17220170|17090670|16840683|16840683|16798874|16673149|16151010|16141009|15972725|15620360|15355437|14722158|14574646|12355089	.	.	.	.	.	.	.	PP3
H	1	197890772	rs183473436	T	G	222	PASS	LHX9	LIM homeobox 9	exonic	NM_001014434,NM_020204	.	missense SNV	LHX9:NM_020204:exon3:c.T716G:p.I239S,LHX9:NM_001014434:exon4:c.T689G:p.I230S	ENST00000337020.2,ENST00000561173.1,ENST00000367391.1,ENST00000367390.3,ENST00000367387.4	CpG: 27	1q31.3	.	.	.	.	.	rs183473436	.	.	0.00664452	0.006	0.00119808	.	0.0008	0.0101	0.006125576049	0.0132211599038	0.272,T	0.022,B	0.004,B	1,D	0.000001,D	1.61,L	-2.31,D	11.1385	1.146	7.520	2.828321,21.5	4.52	AC=1;AN=2;BQB=0.523263;DP4=39,24,22,20;DP=136;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.929406;SF=20;SGB=-0.693146;VDB=0.751999	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:105:42:255,0,255	.	.	.	.	T	G	0	1	LIM homeo box gene 9	.	.	.	12130543|11397841|10756098|10706291|10330499|9880598	.	.	.	.	.	.	.	
L	1	201178836	rs367696690	C	T	100.18	PASS	IGFN1	immunoglobulin-like and fibronectin type III domain containing 1	exonic	NM_001164586	.	synonymous SNV	IGFN1:NM_001164586:exon12:c.C4815T:p.D1605D	ENST00000295591.8,ENST00000451870.2,ENST00000335211.4	.	1q32.1	.	.	.	.	.	rs367696690	.	.	.	.	.	.	0.0052	0	0.0923295	0.00869565	.	.	.	.	.	.	.	.	-3.344	-6.745	.	.	AC=19;AN=38;BQB=2.50233e-08;DP4=2459,1511,944,486;DP=8175;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=4.70751e-22;MQSB=0.95242;RPB=1.98583e-11;SF=1,2,3,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,24;SGB=-0.693147;VDB=1.45861e-18	GT:DP:DV:PL	.	0/1:268:79:203,0,255	0/1:322:76:100,0,255	0/1:241:64:190,0,255	.	.	0/1:392:79:61,0,255	0/1:355:85:141,0,255	0/1:238:77:176,0,255	0/1:212:54:141,0,255	0/1:248:72:165,0,255	0/1:335:87:106,0,255	0/1:304:76:101,0,255	0/1:428:103:75,0,255	.	0/1:262:81:172,0,255	0/1:358:86:63,0,255	0/1:176:54:171,0,255	0/1:245:60:72,0,255	0/1:233:79:202,0,255	0/1:285:84:177,0,255	0/1:264:76:158,0,255	.	.	0/1:234:58:101,0,255	C	T	0	19	.	.	.	.		.	.	.	.	.	.	.	
H	1	201178844	rs201505263	T	C	99.19	PASS	IGFN1	immunoglobulin-like and fibronectin type III domain containing 1	exonic	NM_001164586	.	missense SNV	IGFN1:NM_001164586:exon12:c.T4823C:p.V1608A	ENST00000295591.8,ENST00000451870.2,ENST00000335211.4	.	1q32.1	.	.	.	.	.	rs201505263	.	.	.	.	.	.	0.0012	0	0.0170455	0.00869565	1.0,T	.	.	1,N	.	.	-2.27,D	2.2095	-0.621	-6.273	.	.	AC=18;AN=36;BQB=0.0125006;DP4=2159,1248,801,402;DP=6988;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=3.17412e-24;MQSB=0.990043;RPB=1.23974e-10;SF=1,2,3,5,7,8,9,10,11,12,15,16,17,18,19,20,21,24;SGB=-0.693147;VDB=7.77822e-23	GT:DP:DV:PL	.	0/1:238:65:150,0,255	0/1:309:73:64,0,255	0/1:203:54:196,0,255	.	0/1:362:66:62,0,255	.	0/1:321:71:84,0,255	0/1:234:76:195,0,255	0/1:205:51:139,0,255	0/1:209:61:180,0,255	0/1:296:67:82,0,255	0/1:296:68:63,0,255	.	.	0/1:252:76:193,0,255	0/1:329:78:91,0,255	0/1:165:60:230,0,255	0/1:220:60:137,0,255	0/1:219:71:172,0,255	0/1:264:77:153,0,255	0/1:266:76:128,0,255	.	.	0/1:222:53:102,0,255	T	C	0	18	.	.	.	.		.	.	.	.	.	.	.	
H	1	201178849	rs71524455	G	A	48.16	PASS	IGFN1	immunoglobulin-like and fibronectin type III domain containing 1	exonic	NM_001164586	.	missense SNV	IGFN1:NM_001164586:exon12:c.G4828A:p.E1610K	ENST00000295591.8,ENST00000451870.2,ENST00000335211.4	.	1q32.1	.	.	.	.	.	rs71524455	.	.	.	.	.	.	0.0010	0	.	.	0.31,T	.	.	1,N	.	.	-2.32,D	5.0743	-0.049	-0.076	.	.	AC=4;AN=8;BQB=0.000275043;DP4=411,267,119,74;DP=1274;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=8.99294e-24;MQSB=0.995988;RPB=9.71836e-10;SF=1,8,17,20;SGB=-0.693147;VDB=1.74765e-24	GT:DP:DV:PL	.	0/1:242:54:78,0,255	.	.	.	.	.	.	0/1:224:47:66,0,255	.	.	.	.	.	.	.	.	0/1:159:38:135,0,255	.	.	0/1:246:54:57,0,255	.	.	.	.	G	A	0	4	.	.	.	.		.	.	.	.	.	.	.	PM2
H	1	201178876	rs189258058	G	A	62.69	PASS	IGFN1	immunoglobulin-like and fibronectin type III domain containing 1	exonic	NM_001164586	.	missense SNV	IGFN1:NM_001164586:exon12:c.G4855A:p.G1619S	ENST00000295591.8,ENST00000451870.2,ENST00000335211.4	.	1q32.1	.	.	.	.	.	rs189258058	.	.	.	.	.	.	.	.	.	.	0.116,T	.	.	1,N	.	.	-4.72,D	4.7447	0.174	-0.138	1.209681,11.80	.	AC=5;AN=10;BQB=0.00265743;DP4=586,344,242,65;DP=1736;HOB=0.5;ICB=1;MQ0F=0;MQ=48;MQB=4.15229e-22;MQSB=0.00240433;RPB=1.12762e-25;SF=10,11,17,19,20;SGB=-0.693147;VDB=2.2426e-28	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:250:64:71,0,255	0/1:294:65:68,0,255	.	.	.	.	.	0/1:202:51:121,0,255	.	0/1:231:60:137,0,255	0/1:260:67:92,0,255	.	.	.	.	G	A	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	202894301	rs78311273	G	A	221.67	PASS	KLHL12	kelch-like family member 12	exonic	NM_001303051	.	missense SNV	KLHL12:NM_001303051:exon2:c.C104T:p.P35L	ENST00000367261.3,ENST00000435533.3	.	1q32.1	.	.	.	.	.	rs78311273	.	.	0.0465116	0.0506	0.0101837	7.7e-05	0.0029	0.0380	0.0528330456355	0.0396634329327	0.176,T	0.001,B	0.008,B	1,D	.	.	-0.16,T	4.3029	0.292	2.322	.	2.31	AC=3;AN=6;BQB=0.944856;DP4=18,20,22,25;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.22723;SF=4,14,20;SGB=-0.680642;VDB=0.106561	GT:DP:DV:PL	.	.	.	.	0/1:33:12:255,0,255	.	.	.	.	.	.	.	.	.	0/1:22:17:255,0,134	.	.	.	.	.	0/1:30:18:255,0,243	.	.	.	.	G	A	0	3	Kelch-like 12	.	.	.	22358839|18303015|15383316	.	.	.	.	PID_WNT_CANONICAL_PATHWAY	.	.	
H	1	203798686	rs151199762	C	T	222	PASS	ZC3H11A	zinc finger CCCH-type containing 11A	exonic	NM_014827	.	missense SNV	ZC3H11A:NM_014827:exon8:c.C406T:p.R136W	ENST00000332127.4,ENST00000367214.1,ENST00000545588.1,ENST00000367210.1,ENST00000367212.3	.	1q32.1	.	.	Score=954;Name=V$AP4_Q6	.	.	rs151199762	.	.	0.00498339	0.003	0.000599042	.	0.0002	0.0018	0.00498339	0.00498339	0.061,T	0.055,B	0.296,B	0.999999,D	0.000000,D	1.79,L	0.52,T	15.4742	1.584	2.302	4.515721,24.3	4.95	AC=1;AN=2;BQB=0.99966;DP4=14,6,10,11;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.787525;MQSB=0.972037;RPB=0.956014;SF=20;SGB=-0.692352;VDB=0.185719	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:21:255,0,255	.	.	.	.	C	T	0	1	Zinc finger CCCH domain-containing protein 11A	.	.	.	20016685|9734811	.	.	.	.	.	.	.	
L	1	205892231	rs145640643	C	T	222	PASS	SLC26A9	solute carrier family 26 (anion exchanger), member 9	exonic	NM_052934,NM_134325	.	synonymous SNV	SLC26A9:NM_052934:exon16:c.G1752A:p.R584R,SLC26A9:NM_134325:exon16:c.G1752A:p.R584R	ENST00000367134.2,ENST00000367135.3,ENST00000340781.4	.	1q32.1	.	.	.	.	.	rs145640643	.	.	0.00332226	0.003	0.000599042	.	8.237e-05	0.0012	0.00229708830015	0.00332226	.	.	.	.	.	.	.	.	-0.044	0.300	1.938706,15.83	.	AC=2;AN=4;BQB=0.839346;DP4=30,8,32,4;DP=97;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996123;SF=13,20;SGB=-0.692067;VDB=0.0396505	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:20:255,0,255	.	.	.	.	.	.	0/1:32:16:255,0,255	.	.	.	.	C	T	0	2	Solute carrier family 26 (sulfate transporter), member 9	.	.	.	11834742	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	
L	1	206566903	rs2987927	G	A	52.84	PASS	SRGAP2C,SRGAP2	SLIT-ROBO Rho GTPase activating protein 2	exonic	NM_001170637,NM_001271872,NM_001300952,NM_015326	.	unknown	UNKNOWN	ENST00000419187.2,ENST00000414007.1	.	1q32.1	.	.	.	Score=0.992991;Name=chr1:121086698	.	rs2987927	.	.	0	.	0.000599042	.	0.0100	0.0105	.	0.165217	0.0,D	0.996,D	1.0,D	.	0.000000,D	.	0.49,T	19.5856	2.625	9.869	7.105519,34	5.59	AC=2;AN=4;BQB=0.249619;DP4=158,45,59,6;DP=315;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=2.07591e-09;MQSB=0.83996;RPB=0.796626;SF=18,20;SGB=-0.693132;VDB=0.00340208	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:145:34:84,0,255	.	0/1:123:31:92,0,255	.	.	.	.	G	A	0	2	Slit-robo GTPase-activating protein, rho, 2	.	.	.	22559944|22559943|22106086|21841781|21030649|19737524|11672528|9455477	.	.	.	KEGG_AXON_GUIDANCE	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR	
L	1	207697213	.	G	C	213	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	missense SNV	CR1:NM_000573:exon5:c.G745C:p.V249L,CR1:NM_000651:exon5:c.G745C:p.V249L	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1,ENST00000367050.4	.	1q32.2	.	.	.	Score=0.994828;Name=chr1:207715515	.	.	.	.	.	.	.	.	.	.	.	.	0.37,T	0.687,P	0.753,P	1,N	.	0.91,L	-0.11,T	4.2796	-0.542	-0.024	.	.	AC=1;AN=2;BQB=1;DP4=5,6,4,13;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.613901;MQSB=0.802111;RPB=0.895261;SF=20;SGB=-0.690438;VDB=0.410713	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:17:246,0,213	.	.	.	.	G	C	0	1	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	.	.	20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	PM2
L	1	207793289	rs192442770	A	G	202	PASS	CR1	complement component (3b/4b) receptor 1 (Knops blood group)	exonic	NM_000573,NM_000651	.	synonymous SNV	CR1:NM_000573:exon35:c.A5781G:p.V1927V,CR1:NM_000651:exon43:c.A7131G:p.V2377V	ENST00000400960.2,ENST00000367052.1,ENST00000367049.4,ENST00000367051.1,ENST00000367053.1	.	1q32.2	.	.	.	.	.	rs192442770	.	.	.	.	.	.	0.0009	0.0128	0.00142045	.	.	.	.	0.999962,N	.	.	.	2.0564	-3.951	-6.209	.	.	AC=2;AN=4;BQB=0.980133;DP4=16,2,26,1;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.964954;SF=13,20;SGB=-0.683931;VDB=0.56105	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:13:215,0,179	.	.	.	.	.	.	0/1:23:14:255,0,213	.	.	.	.	A	G	0	2	CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3)	.	.	.	20855594|17709521|16517720|16133175|14694201|13122009|11955431|11884446|11055075|10528197|9230440|7110302|6978375|6572933|6230413|6222138|6126949|6115248|4019777|3782802|3736743|3157763|3031685|3014040|2977721|2960763|2959289|2933745|2564414	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_LEISHMANIA_INFECTION	.	BIOCARTA_BLYMPHOCYTE_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE	
L	1	214170820	rs117278964	G	C	222	PASS	PROX1	prospero homeobox 1	exonic	NM_001270616,NM_002763	.	synonymous SNV	PROX1:NM_001270616:exon2:c.G942C:p.L314L,PROX1:NM_002763:exon2:c.G942C:p.L314L	ENST00000498508.2,ENST00000366958.4,ENST00000261454.4,ENST00000435016.1	.	1q32.3	.	.	Score=765;Name=V$HOX13_01	.	.	rs117278964	.	.	0.0166113	0.0179	0.00399361	0.0002	0.0020	0.0248	0.0214395217458	0.0156250091346	.	.	.	.	.	.	.	.	-0.160	0.725	.	.	AC=2;AN=4;BQB=0.990215;DP4=37,11,42,12;DP=123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999198;SF=18,20;SGB=-0.692976;VDB=0.225867	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:26:255,0,255	.	0/1:53:28:255,0,255	.	.	.	.	G	C	0	2	Prospero-related homeo box 1	.	.	.	20558617|19056883|18931657|16170315|12692551|10888866|10499794|10080188|8812486	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	.	SPECIFIC_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	
M	1	214814125	rs3795522	G	C	173.5	PASS	CENPF	centromere protein F, 350/400kDa	exonic	NM_016343	.	missense SNV	CENPF:NM_016343:exon12:c.G2444C:p.R815P	ENST00000366955.3	.	1q41	.	.	.	.	.	rs3795522	.	.	.	.	.	.	4.168e-05	0.0006	.	.	0.389,T	0.005,B	0.001,B	1,P	0.806298,N	.	3.99,T	3.7733	-0.544	-0.794	.	.	AC=5,1;AN=12;BQB=0.591555;DP4=43,14,38,17;DP=143;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.985523;SF=0,6,12,13,17,20;SGB=-0.688148;VDB=0.284865	GT:DP:DV:PL	0/1:27:15:255,0,237,.,.,.	.	.	.	.	.	0/1:23:12:235,0,255,.,.,.	.	.	.	.	.	0/2:13:5:123,.,.,0,.,185	0/1:19:9:252,0,245,.,.,.	.	.	.	0/1:13:5:123,0,237,.,.,.	.	.	0/1:17:9:251,0,214,.,.,.	.	.	.	.	G	A,C	0	6	Ciliary dyskinesia, primary, 31, 616369 (3)	.	.	.	25564561|9858811|7904902|7851898|7542657	MUSCLE_DEVELOPMENT;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;STRIATED_MUSCLE_DEVELOPMENT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;INTERPHASE;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CHROMOSOME_SEGREGATION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;ESTABLISHMENT_OF_ORGANELLE_LOCALIZATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ORGANELLE_LOCALIZATION;INTERPHASE_OF_MITOTIC_CELL_CYCLE;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;MEMBRANE;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;SPINDLE;CYTOSKELETON;NUCLEAR_MATRIX;CHROMOSOMEPERICENTRIC_REGION;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;MEMBRANE_ENCLOSED_LUMEN;KINETOCHORE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CHROMOSOMAL_PART;CONDENSED_CHROMOSOME;PROTEIN_COMPLEX;CHROMOSOME	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;TRANSCRIPTION_FACTOR_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_FOXM1PATHWAY	.	.	
H	1	223853113	rs368233292	G	A	222	PASS	CAPN8	calpain 8	exonic	NM_001143962	.	unknown	UNKNOWN	ENST00000366872.5,ENST00000366873.2	.	1q41	.	.	.	.	.	rs368233292	.	.	.	.	.	0.0002	.	.	.	.	0.131,T	0.111,B	0.541,P	0.997801,D	0.030182,N	1.655,L	2.32,T	10.8387	0.417	1.405	4.112573,23.7	3.11	AC=1;AN=2;BQB=0.315884;DP4=29,6,27,9;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.221352;SF=20;SGB=-0.693139;VDB=0.277888	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:71:36:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	1	227182674	rs16846779	G	A	222	PASS	CDC42BPA	CDC42 binding protein kinase alpha (DMPK-like)	exonic	NM_003607,NM_014826	.	synonymous SNV	CDC42BPA:NM_014826:exon34:c.C4635T:p.S1545S,CDC42BPA:NM_003607:exon35:c.C4878T:p.S1626S	ENST00000366764.2,ENST00000366766.2,ENST00000334218.5,ENST00000366765.3,ENST00000535525.1,ENST00000366769.3,ENST00000366767.3	.	1q42.13	.	.	.	.	.	rs16846779	.	.	0.0697674	0.0546	0.0165735	0.0022	0.0084	0.0497	0.0666156254211	0.066105728125	.	.	.	1,D	.	.	.	3.4982	-3.083	-2.989	1.553099,13.60	.	AC=3;AN=6;BQB=0.82404;DP4=33,29,32,29;DP=174;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.679476;SF=1,6,20;SGB=-0.692067;VDB=0.237122	GT:DP:DV:PL	.	0/1:40:20:255,0,255	.	.	.	.	0/1:41:19:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:22:255,0,255	.	.	.	.	G	A	0	3	CDC42-binding protein kinase alpha	.	.	.	25107909|18854160|15194684|10391936|9418861|9092543	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;LEADING_EDGE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	PID_CDC42_PATHWAY	.	.	
L	1	227192752	rs2297417	T	C	222	PASS	CDC42BPA	CDC42 binding protein kinase alpha (DMPK-like)	exonic	NM_003607,NM_014826	.	missense SNV	CDC42BPA:NM_014826:exon33:c.A4570G:p.T1524A,CDC42BPA:NM_003607:exon34:c.A4813G:p.T1605A	ENST00000366764.2,ENST00000366766.2,ENST00000334218.5,ENST00000366765.3,ENST00000535525.1,ENST00000366769.3,ENST00000366767.3	.	1q42.13	.	.	.	.	.	rs2297417	.	.	0.0681063	0.0536	0.014377	7.7e-05	0.0059	0.0482	0.0643184996937	0.0649038264423	0.151,T	0.43,B	0.763,P	0.999438,D	0.000018,D	1.61,L	-0.17,T	12.3934	1.045	4.629	1.994589,16.18	4.82	AC=3;AN=6;BQB=0.862856;DP4=58,44,48,23;DP=250;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.833881;SF=1,6,20;SGB=-0.693054;VDB=0.0259271	GT:DP:DV:PL	.	0/1:65:28:255,0,255	.	.	.	.	0/1:56:22:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:21:255,0,255	.	.	.	.	T	C	0	3	CDC42-binding protein kinase alpha	.	.	.	25107909|18854160|15194684|10391936|9418861|9092543	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;LEADING_EDGE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	PID_CDC42_PATHWAY	.	.	
L	1	227219076	rs961490	C	T	206.5	PASS	CDC42BPA	CDC42 binding protein kinase alpha (DMPK-like)	exonic	NM_003607,NM_014826	.	missense SNV	CDC42BPA:NM_014826:exon26:c.G3350A:p.R1117H,CDC42BPA:NM_003607:exon27:c.G3593A:p.R1198H	ENST00000366764.2,ENST00000366766.2,ENST00000334218.5,ENST00000366765.3,ENST00000535525.1,ENST00000366769.3,ENST00000366767.3	.	1q42.13	.	.	Score=808;Name=V$MEIS1AHOXA9_01	.	.	rs961490	.	.	0.0681063	0.0536	0.0155751	0.0003	0.0066	0.0498	0.062787111026	0.0637019105769	0.016,D	0.998,D	1.0,D	1,D	0.000000,D	2.15,M	-0.28,T	19.8579	2.687	6.081	4.872348,24.9	5.71	AC=2;AN=4;BQB=0.857041;DP4=26,2,26,4;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980515;SF=6,20;SGB=-0.692352;VDB=0.389888	GT:DP:DV:PL	.	.	.	.	.	.	0/1:32:21:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:9:224,0,255	.	.	.	.	C	T	0	2	CDC42-binding protein kinase alpha	.	.	.	25107909|18854160|15194684|10391936|9418861|9092543	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;LEADING_EDGE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	PID_CDC42_PATHWAY	.	.	PP3
L	1	227920165	rs184539341	G	A	222	PASS	JMJD4	jumonji domain containing 4	exonic	NM_001161465,NM_023007	.	synonymous SNV	JMJD4:NM_001161465:exon6:c.C1272T:p.S424S,JMJD4:NM_023007:exon6:c.C1320T:p.S440S	ENST00000480897.1,ENST00000485807.1,ENST00000366758.3,ENST00000366760.1,ENST00000438896.2	.	1q42.13	.	.	.	.	.	rs184539341	.	.	0.0116279	0.0079	0.00179712	.	0.0003	0.0035	0.00689126833078	0.0116279	.	.	.	0.999993,N	.	.	.	6.3055	-0.271	-2.101	.	.	AC=2;AN=4;BQB=0.963083;DP4=29,3,36,5;DP=97;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.798702;SF=16,20;SGB=-0.692067;VDB=0.790722	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:20:255,0,255	.	.	.	0/1:36:21:255,0,249	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	1	228468483	rs182094036	G	A	222	PASS	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	exonic	NM_001098623,NM_001271223,NM_052843	.	missense SNV	OBSCN:NM_001098623:exon30:c.G8183A:p.R2728Q,OBSCN:NM_052843:exon30:c.G8183A:p.R2728Q,OBSCN:NM_001271223:exon35:c.G9470A:p.R3157Q	ENST00000359599.6,ENST00000422127.1,ENST00000284548.11,ENST00000366707.4,ENST00000366709.4,ENST00000570156.2	CpG: 41	1q42.13	.	.	Score=793;Name=V$ER_Q6	.	.	rs182094036	.	.	0.00332226	0.002	0.000399361	.	0.0003	0.0035	0.00332226	0.00332226	.	0.074,B	0.326,B	1,N	0.839268,N	-0.38,N	3.58,T	11.8022	-0.359	-0.049	.	.	AC=1;AN=2;BQB=0.97236;DP4=5,9,6,13;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.393396;SF=20;SGB=-0.69168;VDB=0.000229283	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:19:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	PID_RHOA_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	228612739	.	C	T	222	PASS	HIST3H3	histone cluster 3, H3	exonic	NM_003493	.	synonymous SNV	HIST3H3:NM_003493:exon1:c.G288A:p.A96A	ENST00000366696.1	CpG: 49	1q42.13	.	.	Score=775;Name=V$PAX5_02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.815	-2.501	.	.	AC=1;AN=2;BQB=0.965132;DP4=30,22,31,27;DP=149;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.260398;SF=20;SGB=-0.693147;VDB=0.00194436	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:110:58:255,0,255	.	.	.	.	C	T	0	1	Histone 3, H3	.	.	.	18281699|12408966|9439656|8834248	.	.	.	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	PM2
H	1	233314840	rs368762592	G	A	222	PASS	PCNXL2	pecanex-like 2 (Drosophila)	exonic	NM_014801	.	missense SNV	PCNXL2:NM_014801:exon16:c.C3148T:p.R1050C	ENST00000258229.9,ENST00000488780.2	.	1q42.2	.	.	Score=884;Name=V$TAL1BETAE47_01	.	.	rs368762592	.	.	0	.	0.000199681	0.0002	0.0002	0	.	.	0.0,D	1.0,D	1.0,D	0.999967,D	.	3.145,M	1.92,T	18.3874	-0.588	0.506	6.546298,31	.	AC=1;AN=2;BQB=0.992668;DP4=10,3,9,5;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.80688;SF=20;SGB=-0.686358;VDB=0.533628	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	1	233388457	rs558546311	G	A	222	PASS	PCNXL2	pecanex-like 2 (Drosophila)	exonic	NM_014801	.	missense SNV	PCNXL2:NM_014801:exon6:c.C1912T:p.P638S	ENST00000258229.9,ENST00000430153.1	.	1q42.2	.	.	.	.	.	rs558546311	.	.	0.00166113	0.001	0.000199681	.	4.971e-05	0.0007	0.00166113	0.00166113	0.189,T	0.002,B	0.001,B	1,D	.	1.575,L	3.14,T	0.9169	1.479	-0.113	1.729101,14.57	2.49	AC=1;AN=2;BQB=0.820386;DP4=4,7,12,6;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.70772;SF=20;SGB=-0.691153;VDB=0.0706396	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:18:255,0,249	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	1	235324210	.	T	A	222	PASS	RBM34	RNA binding motif protein 34	exonic	NM_001161533,NM_015014	.	stopgain	RBM34:NM_001161533:exon2:c.A226T:p.K76X,RBM34:NM_015014:exon2:c.A226T:p.K76X	ENST00000408888.3,ENST00000366606.3	.	1q42.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,A	0.217039,N	.	.	5.1547	-0.116	0.035	7.209339,34	.	AC=1;AN=2;BQB=0.991767;DP4=12,2,8,4;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.785785;SF=20;SGB=-0.680642;VDB=0.376267	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	T	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	1	235952111	rs117609949	A	T	222	PASS	LYST	lysosomal trafficking regulator	exonic	NM_000081,NM_001301365	.	missense SNV	LYST:NM_000081:exon13:c.T4578A:p.N1526K,LYST:NM_001301365:exon13:c.T4578A:p.N1526K	ENST00000389793.2,ENST00000389794.3,ENST00000536965.1	.	1q42.3	.	.	.	.	.	rs117609949	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0028	0.00306278537519	0.00240384754808	0.24,T	0.015,B	0.025,B	0.999903,N	0.011842,N	1.67,L	0.17,T	7.8296	0.457	2.541	.	3.42	AC=1;AN=2;BQB=0.367442;DP4=5,2,4,6;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0352938;SF=20;SGB=-0.670168;VDB=0.00341848	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:10:255,0,242	.	.	.	.	A	T	0	1	Chediak-Higashi syndrome, 214500 (3)	.	.	.	16518687|11857544|10782205|10482950|9606205|9300652|9215680|9215679|8896560|8751864|8751863|8717042|8673129|1672300	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;DEFENSE_RESPONSE;VACUOLAR_TRANSPORT;LYSOSOMAL_TRANSPORT;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;CELLULAR_LOCALIZATION;CELLULAR_DEFENSE_RESPONSE	MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ENDOSOME;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	.	.	.	.	.	
L	1	237711854	rs138064129	T	C	177	PASS	RYR2	ryanodine receptor 2 (cardiac)	exonic	NM_001035	.	synonymous SNV	RYR2:NM_001035:exon26:c.T3030C:p.D1010D	ENST00000360064.6,ENST00000542537.1,ENST00000366574.2	.	1q43	.	.	.	.	.	rs138064129	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000036723.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0215947	0.0308	0.00678914	0.0002	0.0019	0.0220	0.0222052286371	0.0240384776442	.	.	.	.	.	.	.	.	0.183	0.296	.	.	AC=1;AN=2;BQB=0.914584;DP4=8,4,6,1;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.914584;SF=20;SGB=-0.636426;VDB=0.626747	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:7:210,0,255	.	.	.	.	T	C	0	1	Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3)	.	.	.	21048710|19926015|18483626|18227387|17984046|17875969|16873551|16407108|15336975|15336974|15322274|15197150|15073377|12919952|12837242|12471029|12459180|12169647|12093772|11208676|11159936|11157710|10830164|9628868|8406504|7959768|2380170|2298749	REGULATION_OF_HEART_CONTRACTION;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	MEMBRANE;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	.	BIOCARTA_NO1_PATHWAY	.	
H	1	237831176	rs766622060	A	G	222	PASS	RYR2	ryanodine receptor 2 (cardiac)	splicing	NM_001035	NM_001035:exon58:c.8515-7A>G	.	.	ENST00000360064.6,ENST00000542537.1,ENST00000366574.2	.	1q43	.	.	.	.	.	rs766622060	.	.	.	.	.	.	0.0003	0.0064	0.00142045	.	.	.	.	.	.	.	.	.	-0.052	-0.273	1.416506,12.87	.	AC=1;AN=2;BQB=0.843068;DP4=17,1,8,3;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.784525;SF=20;SGB=-0.676189;VDB=0.0875329	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:11:255,0,255	.	.	.	.	A	G	0	1	Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3)	.	.	.	21048710|19926015|18483626|18227387|17984046|17875969|16873551|16407108|15336975|15336974|15322274|15197150|15073377|12919952|12837242|12471029|12459180|12169647|12093772|11208676|11159936|11157710|10830164|9628868|8406504|7959768|2380170|2298749	REGULATION_OF_HEART_CONTRACTION;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;SYSTEM_PROCESS	MEMBRANE;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	.	BIOCARTA_NO1_PATHWAY	.	
H	1	247464573	rs138266774	C	T	222	PASS	ZNF496	zinc finger protein 496	exonic	NM_032752	.	missense SNV	ZNF496:NM_032752:exon9:c.G1012A:p.G338S	ENST00000294753.4,ENST00000462139.1,ENST00000366498.2	CpG: 61	1q44	.	.	.	.	.	rs138266774	.	.	0.0598007	0.0466	0.00938498	0.0002	0.0025	0.0308	0.0413476525268	0.0492788634615	0.531,T	0.552,P	0.986,D	1,N	0.897395,N	2.24,M	3.24,T	6.3294	0.704	0.236	.	2.26	AC=3;AN=6;BQB=0.925617;DP4=43,61,41,60;DP=269;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.888898;SF=2,19,20;SGB=-0.693139;VDB=0.0230042	GT:DP:DV:PL	.	.	0/1:68:36:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:31:255,0,255	0/1:78:34:255,0,255	.	.	.	.	C	T	0	3	Zinc finger protein 496	.	.	.	17521633|15169884	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	1	248186000	rs117339521	T	C	222	PASS	OR2L5	olfactory receptor, family 2, subfamily L, member 5	exonic	NM_001258284	.	missense SNV	OR2L5:NM_001258284:exon1:c.T751C:p.Y251H	ENST00000366478.2,ENST00000355281.1	.	1q44	.	.	.	.	.	rs117339521	.	.	0.0315615	0.0427	0.00878594	.	0.0027	0.0371	0.0426136	0.0300481165865	0.001,D	.	.	1,N	0.013079,U	2.925,M	1.01,T	5.5714	0.850	2.171	3.200312,22.7	2.17	AC=5;AN=10;BQB=0.500655;DP4=210,183,187,152;DP=890;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.730624;SF=0,4,8,10,20;SGB=-0.693147;VDB=0.204457	GT:DP:DV:PL	0/1:143:68:255,0,255	.	.	.	0/1:150:68:255,0,255	.	.	.	0/1:136:74:255,0,255	.	0/1:153:71:255,0,255	.	.	.	.	.	.	.	.	.	0/1:150:58:255,0,255	.	.	.	.	T	C	0	5	.	.	.	.		.	.	.	.	.	.	.	
H	1	248524992	rs45552134	A	G	155.01	PASS	OR2T4	olfactory receptor, family 2, subfamily T, member 4	exonic	NM_001004696	.	missense SNV	OR2T4:NM_001004696:exon1:c.A110G:p.N37S	ENST00000366475.1	.	1q44	.	.	.	.	.	rs45552134	.	.	.	.	.	0.0226	.	.	0.0326705	.	0.032,D	0.028,B	0.028,B	0.997804,P	0.743276,N	2.455,M	-0.07,T	4.5644	-0.469	0.998	.	.	AC=15;AN=20;BQB=0.4074;DP4=154,44,54,83;DP=424;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=1.58025e-07;MQSB=0.140908;RPB=1.09834e-06;SF=1,6,11,12,13,14,15,18,20,21;SGB=-0.689466;VDB=1.39874e-08	GT:DP:DV:PL	.	0/1:65:16:172,0,255	.	.	.	.	1/1:10:10:230,30,0	.	.	.	.	1/1:27:27:255,81,0	1/1:10:10:212,30,0	0/1:36:9:115,0,255	0/1:30:5:77,0,255	1/1:13:13:255,39,0	.	.	1/1:17:17:251,51,0	.	0/1:48:9:101,0,255	0/1:79:21:193,0,255	.	.	.	A	G	5	5	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	PM2
L	1	248722752	rs768630054	A	G	111.95	PASS	OR2T29	olfactory receptor, family 2, subfamily T, member 29	exonic	NM_001004694	.	missense SNV	OR2T29:NM_001004694:exon1:c.T41C:p.L14S	ENST00000438623.1,ENST00000328570.3	.	1q44	.	.	.	Score=0.986121;Name=chr1:248623087	.	rs768630054	.	.	.	.	.	.	0.0174	0.0446	0.015625	0.0565217	1.0,T	0.0,B	0.0,B	1,N	0.134499,N	-1.485,N	7.38,T	5.5944	-1.469	-1.241	.	.	AC=15;AN=30;BQB=0.984733;DP4=247,60,46,165;DP=671;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.953977;MQSB=0.982106;RPB=1.77314e-05;SF=0,1,2,4,6,11,12,13,14,15,18,20,21,22,23;SGB=-0.691153;VDB=0.000101525	GT:DP:DV:PL	0/1:38:18:231,0,227	0/1:25:8:94,0,200	0/1:32:12:165,0,255	.	0/1:39:9:92,0,255	.	0/1:35:22:182,0,136	.	.	.	.	0/1:40:30:255,0,113	0/1:32:9:77,0,240	0/1:25:12:175,0,205	0/1:32:10:122,0,255	0/1:39:17:186,0,233	.	.	0/1:57:19:125,0,255	.	0/1:22:8:142,0,172	0/1:42:12:97,0,221	0/1:36:6:58,0,255	0/1:24:19:186,0,81	.	A	G	0	15	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248722756	rs776458271	T	A	113.79	PASS	OR2T29	olfactory receptor, family 2, subfamily T, member 29	exonic	NM_001004694	.	missense SNV	OR2T29:NM_001004694:exon1:c.A37T:p.R13W	ENST00000438623.1,ENST00000328570.3	.	1q44	.	.	.	Score=0.986121;Name=chr1:248623087	.	rs776458271	.	.	.	.	.	.	0.0007	0.0017	0.0170455	0.0565217	0.316,T	0.0,B	0.0,B	1,N	0.000905,N	0.345,N	4.08,T	1.7294	-4.168	-1.033	.	.	AC=13;AN=26;BQB=0.842125;DP4=203,48,35,149;DP=574;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.999498;MQSB=0.684083;RPB=4.30921e-05;SF=0,1,2,6,11,13,14,15,18,20,21,22,23;SGB=-0.690438;VDB=5.02755e-05	GT:DP:DV:PL	0/1:36:17:221,0,219	0/1:26:8:81,0,218	0/1:33:11:155,0,255	.	.	.	0/1:33:20:180,0,140	.	.	.	.	0/1:39:29:255,0,115	.	0/1:25:12:174,0,201	0/1:31:8:95,0,255	0/1:37:17:162,0,220	.	.	0/1:54:18:125,0,255	.	0/1:22:8:142,0,181	0/1:40:11:88,0,211	0/1:35:6:61,0,255	0/1:24:19:181,0,82	.	T	A	0	13	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248722767	rs764893066	T	C	98.48	PASS	OR2T29	olfactory receptor, family 2, subfamily T, member 29	exonic	NM_001004694	.	missense SNV	OR2T29:NM_001004694:exon1:c.A26G:p.N9S	ENST00000438623.1,ENST00000328570.3	.	1q44	.	.	.	Score=0.986121;Name=chr1:248623087	.	rs764893066	.	.	.	.	.	.	9.122e-05	0.0002	0.00710227	0.0521739	0.034,D	0.033,B	0.026,B	0.999999,N	0.383398,N	2.74,M	-0.07,T	3.485	-0.216	0.261	.	.	AC=14;AN=28;BQB=0.546074;DP4=208,78,26,155;DP=623;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.951097;MQSB=0.748247;RPB=8.36483e-05;SF=0,1,2,4,6,11,12,13,14,15,18,20,21,23;SGB=-0.688148;VDB=0.00015948	GT:DP:DV:PL	0/1:35:15:189,0,231	0/1:26:8:91,0,255	0/1:33:11:145,0,255	.	0/1:40:9:66,0,255	.	0/1:32:19:178,0,159	.	.	.	.	0/1:35:25:255,0,125	0/1:33:9:74,0,255	0/1:24:11:166,0,224	0/1:33:8:99,0,255	0/1:31:12:130,0,255	.	.	0/1:58:16:105,0,255	.	0/1:21:8:119,0,183	0/1:40:11:96,0,255	.	0/1:26:19:139,0,111	.	T	C	0	14	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248722788	.	G	T	77.57	PASS	OR2T29	olfactory receptor, family 2, subfamily T, member 29	exonic	NM_001004694	.	missense SNV	OR2T29:NM_001004694:exon1:c.C5A:p.A2D	ENST00000438623.1,ENST00000328570.3	.	1q44	.	.	.	Score=0.986121;Name=chr1:248623087	.	.	.	.	.	.	.	.	.	.	0.00426136	0.0434783	1.0,T	.	.	1,N	0.486741,N	0.255,N	4.78,T	7.418	0.166	0.070	.	.	AC=13;AN=26;BQB=0.126677;DP4=170,92,12,113;DP=522;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.487135;MQSB=0.917652;RPB=0.010828;SF=0,1,2,4,6,11,12,13,14,15,20,21,23;SGB=-0.670168;VDB=1.17909e-05	GT:DP:DV:PL	0/1:32:10:108,0,255	0/1:24:5:68,0,255	0/1:33:8:135,0,255	.	0/1:41:8:58,0,255	.	0/1:26:13:158,0,212	.	.	.	.	0/1:29:19:238,0,140	0/1:32:7:67,0,255	0/1:22:9:156,0,228	0/1:32:5:60,0,255	0/1:30:9:87,0,255	.	.	.	.	0/1:23:7:93,0,205	0/1:40:10:87,0,255	.	0/1:23:15:136,0,139	.	G	T	0	13	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248801592	rs78622116	C	T	225.04	PASS	OR2T35	olfactory receptor, family 2, subfamily T, member 35	exonic	NM_001001827	.	missense SNV	OR2T35:NM_001001827:exon1:c.G968A:p.G323D	ENST00000317450.3	.	1q44	.	.	.	Score=0.979009;Name=chr1:248584239	.	rs78622116	.	.	.	.	.	.	0.0207	0.0312	0.00710227	0.126087	0.127,T	0.0,B	0.0,B	1,P	.	0,N	4.71,T	2.9607	-0.215	0.032	1.281827,12.17	.	AC=44;AN=48;BQB=0.40894;DP4=7,45,1017,54;DP=1492;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.021677;MQSB=0.0015794;RPB=0.0438542;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.0676483	GT:DP:DV:PL	1/1:60:55:255,63,0	1/1:52:50:255,96,0	1/1:31:31:255,93,0	0/1:33:28:220,0,27	1/1:52:50:255,104,0	1/1:77:77:255,232,0	1/1:42:40:255,56,0	1/1:68:62:255,43,0	0/1:20:17:255,0,37	1/1:64:64:255,193,0	.	1/1:58:52:255,33,0	1/1:51:51:255,154,0	1/1:45:44:255,98,0	1/1:36:36:255,108,0	0/1:46:39:255,0,27	1/1:51:51:255,151,0	1/1:46:42:255,23,0	1/1:49:48:255,110,0	1/1:54:53:255,144,0	1/1:54:53:255,137,0	1/1:50:47:255,70,0	1/1:25:24:255,38,0	1/1:39:39:255,117,0	0/1:20:18:255,0,9	C	T	20	4	.	.	.	.		.	.	.	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248801610	rs150878651	G	A	226.12	PASS	OR2T35	olfactory receptor, family 2, subfamily T, member 35	exonic	NM_001001827	.	missense SNV	OR2T35:NM_001001827:exon1:c.C950T:p.A317V	ENST00000317450.3	.	1q44	.	.	.	Score=0.979009;Name=chr1:248584239	.	rs150878651	.	.	0	.	0.00339457	.	0.0055	0	0.00710227	0.126087	0.323,T	0.0,B	0.0,B	1,N	0.961026,N	0,N	4.77,T	5.1839	-1.080	-1.630	.	.	AC=43;AN=48;BQB=0.718492;DP4=19,56,944,126;DP=1497;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.00665208;MQSB=0.000667734;RPB=0.0186849;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=6.01777e-05	GT:DP:DV:PL	1/1:60:54:255,37,0	1/1:53:50:255,67,0	1/1:32:32:255,96,0	0/1:36:28:255,0,86	1/1:53:50:255,85,0	1/1:76:76:255,229,0	1/1:42:40:255,56,0	1/1:66:61:255,72,0	0/1:22:17:255,0,77	1/1:64:64:255,193,0	.	1/1:57:51:255,48,0	1/1:51:50:255,132,0	1/1:47:43:255,42,0	1/1:35:35:255,105,0	0/1:48:39:255,0,67	1/1:52:52:255,157,0	1/1:46:43:255,55,0	1/1:54:51:255,67,0	1/1:52:50:255,113,0	1/1:60:56:255,77,0	1/1:53:48:255,20,0	0/1:26:23:255,0,18	1/1:39:39:255,117,0	0/1:21:18:255,0,32	G	A	19	5	.	.	.	.		.	.	.	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248801611	rs143981271	C	T	225.71	PASS	OR2T35	olfactory receptor, family 2, subfamily T, member 35	exonic	NM_001001827	.	missense SNV	OR2T35:NM_001001827:exon1:c.G949A:p.A317T	ENST00000317450.3	.	1q44	.	.	.	Score=0.979009;Name=chr1:248584239	.	rs143981271	.	.	.	.	.	.	0	0	0.00710227	0.126087	0.385,T	0.005,B	0.005,B	1,N	0.961026,U	0,N	4.74,T	4.3289	-0.186	-1.221	.	.	AC=42;AN=48;BQB=0.844581;DP4=21,57,950,130;DP=1515;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.00986422;MQSB=0.00139627;RPB=0.0186832;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=8.26233e-05	GT:DP:DV:PL	1/1:61:55:255,40,0	1/1:53:50:255,68,0	1/1:32:32:255,96,0	0/1:37:29:255,0,77	1/1:54:51:255,88,0	1/1:76:76:255,229,0	1/1:43:41:255,59,0	1/1:68:62:255,40,0	0/1:22:17:255,0,77	1/1:64:64:255,193,0	.	1/1:58:52:255,51,0	1/1:52:51:255,135,0	1/1:47:44:255,65,0	1/1:36:36:255,108,0	0/1:49:39:255,0,77	1/1:53:53:255,160,0	1/1:45:42:255,52,0	1/1:52:49:255,61,0	1/1:54:52:255,119,0	1/1:60:56:255,77,0	0/1:56:49:255,0,18	0/1:26:23:255,0,18	1/1:39:39:255,117,0	0/1:21:18:255,0,26	C	T	18	6	.	.	.	.		.	.	.	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	248801633	rs74901534	A	G	225.58	PASS	OR2T35	olfactory receptor, family 2, subfamily T, member 35	exonic	NM_001001827	.	synonymous SNV	OR2T35:NM_001001827:exon1:c.T927C:p.G309G	ENST00000317450.3	.	1q44	.	.	.	Score=0.979009;Name=chr1:248584239	.	rs74901534	.	.	.	.	.	.	0.0147	0.0409	0.00710227	0.121739	.	.	.	.	.	.	.	.	-1.170	-5.231	.	.	AC=42;AN=48;BQB=0.0716493;DP4=50,49,943,179;DP=1736;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.00429987;MQSB=0.0579024;RPB=0.0442554;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=4.48232e-06	GT:DP:DV:PL	1/1:65:58:255,42,0	1/1:52:50:255,110,0	1/1:33:33:255,99,0	0/1:36:31:255,0,19	1/1:56:52:255,74,0	1/1:79:79:255,238,0	1/1:44:42:255,62,0	1/1:79:68:255,2,0	0/1:20:16:255,0,55	1/1:66:66:255,199,0	.	0/1:62:53:255,0,8	1/1:53:52:255,138,0	1/1:46:43:255,79,0	1/1:37:37:255,111,0	0/1:53:43:255,0,63	1/1:59:59:255,178,0	1/1:51:45:255,4,0	1/1:60:53:255,0,0	1/1:56:51:255,65,0	1/1:64:60:255,81,0	0/1:62:50:255,0,78	0/1:27:23:255,0,39	1/1:41:40:255,96,0	1/1:20:18:255,0,6	A	G	18	6	.	.	.	.		.	.	.	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	1	249141869	rs375718499	G	C	222	PASS	ZNF672	zinc finger protein 672	exonic	NM_024836	.	synonymous SNV	ZNF672:NM_024836:exon4:c.G396C:p.L132L	ENST00000306562.3	CpG: 145	1q44	.	.	Score=842;Name=V$GR_Q6	.	.	rs375718499	.	.	0.00332226	0.003	0.000599042	.	0.0004	0	0.0107197798775	0.00721153788462	.	.	.	.	.	.	.	.	0.413	0.512	.	.	AC=2;AN=4;BQB=0.878678;DP4=22,19,18,26;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98783;SF=13,20;SGB=-0.692352;VDB=0.256667	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:21:255,0,255	.	.	.	.	.	.	0/1:44:23:255,0,255	.	.	.	.	G	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	2	1488544	rs146768724	C	T	222	PASS	TPO	thyroid peroxidase	exonic	NM_000547,NM_001206744,NM_001206745,NM_175719,NM_175721,NM_175722	.	synonymous SNV	TPO:NM_175722:exon7:c.C996T:p.D332D,TPO:NM_175721:exon8:c.C1515T:p.D505D,TPO:NM_000547:exon9:c.C1515T:p.D505D,TPO:NM_001206744:exon9:c.C1515T:p.D505D,TPO:NM_001206745:exon9:c.C1515T:p.D505D,TPO:NM_175719:exon9:c.C1515T:p.D505D	ENST00000349624.3,ENST00000382201.3,ENST00000382198.1,ENST00000329066.4,ENST00000345913.4,ENST00000337415.3,ENST00000497517.2,ENST00000346956.3	.	2p25.3	.	.	.	.	.	rs146768724	.	.	0.00996678	0.0099	0.00239617	0.0021	0.0006	0.0023	0.00996678	0.00996678	.	.	.	0.999999,D	.	.	.	6.5024	-0.242	-0.979	0.956822,10.41	.	AC=1;AN=2;BQB=0.981184;DP4=20,16,18,13;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00573418;SF=20;SGB=-0.69311;VDB=0.000115492	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:31:255,0,255	.	.	.	.	C	T	0	1	Thyroid dyshormonogenesis 2A, 274500 (3)	.	.	.	18029453|15863666|12843174|12213873|11238503|11061528|10487692|10084596|9814507|9024270|8964831|8027236|7759120|7550241|3654979|3475693|3378456|2548579|1401057	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_TYROSINE_METABOLISM;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_AMINE_DERIVED_HORMONES	
L	2	9580666	rs573001104	C	T	222	PASS	CPSF3	cleavage and polyadenylation specific factor 3, 73kDa	exonic	NM_016207	.	synonymous SNV	CPSF3:NM_016207:exon8:c.C807T:p.Y269Y	ENST00000238112.3,ENST00000460593.1	.	2p25.1	.	.	.	.	.	rs573001104	.	.	0.00166113	0.001	0.000199681	.	4.943e-05	0.0007	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.336	1.353	1.235974,11.94	2.58	AC=1;AN=2;BQB=0.923961;DP4=11,7,10,5;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.315707;SF=20;SGB=-0.688148;VDB=0.00398229	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:15:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;RNA_3END_PROCESSING;MRNA_PROCESSING_GO_0006397;MRNA_METABOLIC_PROCESS	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_TRANSPORT_OF_MATURE_TRANSCRIPT_TO_CYTOPLASM;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_TRANSPORT_OF_MATURE_MRNA_DERIVED_FROM_AN_INTRONLESS_TRANSCRIPT;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	
L	2	11334384	rs55839233	T	G	180	PASS	ROCK2	Rho-associated, coiled-coil containing protein kinase 2	exonic	NM_004850	.	synonymous SNV	ROCK2:NM_004850:exon29:c.A3606C:p.I1202I	ENST00000401753.1,ENST00000315872.6	.	2p25.1	.	.	.	.	.	rs55839233	.	.	0.0315615	0.0258	0.00539137	8.6e-05	0.0012	0.0157	0.019142438683	0.0288461730769	.	.	.	.	.	.	.	.	2.289	0.399	1.587366,13.78	5.66	AC=1;AN=2;BQB=0.908075;DP4=3,2,7,1;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.765017;SF=20;SGB=-0.651104;VDB=0.70846	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:8:213,0,148	.	.	.	.	T	G	0	1	RHO-associated coiled-coil-containing protein kinase 2	.	.	.	21282601|19509062|12832488|11274082|11274070|9933571|9734811	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_WNT_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_FOCAL_ADHESION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_RHOA_PATHWAY;PID_ER_NONGENOMIC_PATHWAY;PID_AVB3_OPN_PATHWAY;PID_PLK1_PATHWAY;PID_THROMBIN_PAR4_PATHWAY;PID_THROMBIN_PAR1_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_CCR3_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_GPCR;REACTOME_AXON_GUIDANCE;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	
H	2	21234160	rs199585500	C	A	222	PASS	APOB	apolipoprotein B	exonic	NM_000384	.	missense SNV	APOB:NM_000384:exon26:c.G5580T:p.Q1860H	ENST00000233242.1	.	2p24.1	.	.	.	.	.	rs199585500	.	.	0.00166113	0.001	0.000199681	.	8.237e-06	0.0001	0.00166113	0.00166113	0.039,D	0.533,P	0.976,D	0.999999,N	0.121183,N	2.655,M	5.69,T	8.9389	-0.058	0.302	1.510777,13.37	.	AC=1;AN=2;BQB=0.953929;DP4=10,11,11,13;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.779809;SF=20;SGB=-0.692831;VDB=0.0473017	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:24:255,0,255	.	.	.	.	C	A	0	1	Hypobetalipoproteinemia, 615558 (3); Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)	.	.	.	21981844|20686565|20506408|19450445|18354102|17595251|17158591|16030169|15984016|15538359|14691182|14618390|14147429|13971876|13682582|12655413|12124991|12066187|11940084|11781700|11494965|11115503|10952765|9603795|9508071|9486979|9339363|8855280|8792774|8723684|8692825|8527219|8496659|8478017|8460149|8318993|8318509|8254047|8078915|7883971|7657833|7593600|7229035|6876109|5808059|5475509|5319116|4984720|4472544|4368720|4363864|4074366|4031057|3975124|3949756|3860811|3841481|3841204|3787263|3773997|3771801|3763409|3759943|3680528|3676265|3659919|3584472|3522585|3513177|3477815|3473077|3464946|3461454|3460091|3455779|3399894|3200853|3095664|3030729|3024002|3017840|3012797|3012469|3003743|3001697|2994225|2911570|2909827|2904569|2903181|2901434|2901432|2876424|2872432|2843815|2773938|2725600|2614276|2574033|2567736|2565046|2564152|2563166|2472350|2450346|2419898|2375782|2312735|2307462|2022744|1985459|1977310|1939657|1731805|1689953|1602000|1600334|1570833|1562615|1493642|1466657|1454832|1424233|1370364|1360085|1347103|221546|176662|176106|174851	.	VESICULAR_FRACTION;CELL_FRACTION;MICROSOME;MEMBRANE_FRACTION	PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_PLATELET_SENSITIZATION_BY_LDL;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	
H	2	21365099	.	A	T	127	PASS	TDRD15	tudor domain containing 15	exonic	NM_001306137	.	missense SNV	TDRD15:NM_001306137:exon4:c.A4760T:p.N1587I	ENST00000405799.1	.	2p24.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048,D	.	.	.	.	.	3.02,T	5.2029	0.357	-0.014	.	.	AC=1;AN=2;BQB=0.978183;DP4=10,7,4,2;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.339296;SF=20;SGB=-0.616816;VDB=0.19611	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:6:161,0,255	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	2	26407949	.	G	C	221	PASS	GAREM2	.	exonic	NM_001168241,NM_001191033	.	missense SNV	GAREM2:NM_001191033:exon3:c.G1001C:p.S334T,GAREM2:NM_001168241:exon4:c.G1232C:p.S411T	ENST00000407684.1,ENST00000401533.2	CpG: 95	2p23.3	.	.	Score=798;Name=V$TAXCREB_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49,T	0.015,B	0.012,B	0.543404,D	0.224094,N	0.64,N	2.0,T	8.8196	1.885	1.190	1.245870,11.99	3.38	AC=1;AN=2;BQB=0.988166;DP4=3,1,4,5;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.961166;RPB=0.898397;SF=20;SGB=-0.662043;VDB=0.139876	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:9:255,0,136	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	2	26750770	rs144915302	C	T	228	PASS	OTOF	otoferlin	exonic	NM_001287489,NM_194248	.	missense SNV	OTOF:NM_001287489:exon3:c.G157A:p.A53T,OTOF:NM_194248:exon3:c.G157A:p.A53T	ENST00000272371.2,ENST00000403946.3	.	2p23.3	.	.	.	.	.	rs144915302	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000041464.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0149502	0.0149	0.00299521	.	0.0010	0.0140	0.0130168413476	0.0156250233173	0.196,T	0.071,B	0.05,B	0.992286,D	0.000063,D	1.995,M	-0.52,T	13.621	1.223	4.340	3.747423,23.3	4.5	AC=2;AN=2;DP4=0,0,29,32;DP=86;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.00115388	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:61:61:255,184,0	.	.	.	.	C	T	1	0	Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy, autosomal recessive, 1, 601071 (3)	.	Deafness(CM1310657)	GCC-ACC|Ala53Thr|c.157G>A|p.A53T(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=23967202&dopt=Abstract)	23967202|22575033|19417007|19250381|17055430|16371502|16097006|14635104|12525542|12127154|12114484|10903124|10878664|10843812|10192385|9657592	SENSORY_PERCEPTION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;MEMBRANE_FUSION;SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;CELL_FRACTION;CYTOSOL;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	.	.	.	.	.	PS3
L	2	27324145	rs541426747	G	T	222	PASS	CGREF1	cell growth regulator with EF-hand domain 1	exonic	NM_001166239,NM_006569	.	synonymous SNV	CGREF1:NM_001166239:exon6:c.C954A:p.I318I,CGREF1:NM_006569:exon6:c.C954A:p.I318I	ENST00000405600.1,ENST00000402394.1,ENST00000404694.3,ENST00000260595.5,ENST00000402550.1,ENST00000452318.2,ENST00000312734.4	.	2p23.3	.	.	.	.	.	rs541426747	.	.	0	0.002	0.000399361	.	5.408e-05	0.0007	.	.	.	.	.	.	.	.	.	.	-1.006	-1.003	.	.	AC=1;AN=2;BQB=0.985455;DP4=22,4,19,2;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999943;SF=20;SGB=-0.692352;VDB=0.0800368	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:21:255,0,255	.	.	.	.	G	T	0	1	Cell growth regulator with EF-hand domain 1	.	.	.	8968090	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_STRESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	.	.	.	.	.	
L	2	27324340	rs11893427	G	A	120.89	PASS	CGREF1	cell growth regulator with EF-hand domain 1	exonic	NM_001166239,NM_006569	.	synonymous SNV	CGREF1:NM_001166239:exon6:c.C759T:p.P253P,CGREF1:NM_006569:exon6:c.C759T:p.P253P	ENST00000405600.1,ENST00000402394.1,ENST00000404694.3,ENST00000260595.5,ENST00000402550.1,ENST00000452318.2,ENST00000312734.4	.	2p23.3	.	.	.	.	.	rs11893427	.	.	.	.	.	.	8.45e-05	0	.	0.0304348	.	.	.	.	.	.	.	.	-1.753	-4.077	.	.	AC=23;AN=46;BQB=0.986456;DP4=275,108,53,167;DP=829;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.686704;MQSB=0.835995;RPB=0.00427682;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.0270423	GT:DP:DV:PL	0/1:21:5:74,0,247	.	0/1:26:8:120,0,253	0/1:23:11:153,0,217	0/1:23:10:169,0,251	0/1:52:13:154,0,255	0/1:24:8:157,0,221	0/1:26:16:246,0,148	0/1:20:10:193,0,140	0/1:27:12:183,0,250	0/1:17:6:115,0,189	0/1:12:7:159,0,119	0/1:15:9:183,0,99	0/1:35:7:149,0,255	0/1:18:5:60,0,183	0/1:19:10:239,0,174	0/1:24:9:158,0,247	.	0/1:24:7:127,0,255	0/1:24:7:88,0,207	0/1:27:14:225,0,208	0/1:53:17:202,0,255	0/1:15:5:120,0,189	0/1:31:8:101,0,255	0/1:47:16:174,0,255	G	A	0	23	Cell growth regulator with EF-hand domain 1	.	.	.	8968090	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_STRESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	.	.	.	.	.	
H	2	27324354	rs1057391	C	T	80.16	PASS	CGREF1	cell growth regulator with EF-hand domain 1	exonic	NM_001166239,NM_006569	.	missense SNV	CGREF1:NM_001166239:exon6:c.G745A:p.E249K,CGREF1:NM_006569:exon6:c.G745A:p.E249K	ENST00000405600.1,ENST00000402394.1,ENST00000404694.3,ENST00000260595.5,ENST00000402550.1,ENST00000452318.2,ENST00000312734.4	.	2p23.3	.	.	.	.	.	rs1057391	.	.	.	.	.	.	.	.	.	0.0434783	0.042,D	0.003,B	0.012,B	1,N	.	0,N	-1.03,T	8.6395	0.001	-0.645	.	.	AC=17;AN=34;BQB=0.186467;DP4=226,71,29,101;DP=544;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.571777;MQSB=0.986161;RPB=0.00106176;SF=0,2,3,4,6,7,8,9,11,12,15,16,18,19,20,21,22;SGB=-0.636426;VDB=0.00113077	GT:DP:DV:PL	0/1:22:7:108,0,255	.	0/1:26:6:101,0,255	0/1:25:9:124,0,247	0/1:25:6:94,0,255	.	0/1:26:6:88,0,248	0/1:27:12:144,0,206	0/1:19:7:123,0,175	0/1:21:7:90,0,242	.	0/1:21:9:179,0,252	0/1:17:7:126,0,162	.	.	0/1:18:8:152,0,176	0/1:25:7:111,0,235	.	0/1:26:6:103,0,255	0/1:24:6:62,0,232	0/1:30:8:104,0,255	0/1:54:13:123,0,255	0/1:21:6:108,0,241	.	.	C	T	0	17	Cell growth regulator with EF-hand domain 1	.	.	.	8968090	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_STRESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	.	.	.	.	.	
L	2	27429367	rs143122507	T	C	222	PASS	SLC5A6	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	exonic	NM_021095	.	synonymous SNV	SLC5A6:NM_021095:exon5:c.A495G:p.S165S	ENST00000408041.1,ENST00000310574.3	.	2p23.3	.	.	.	.	.	rs143122507	.	.	0.0199336	0.0218	0.0307508	0.0013	0.0262	0.0167	0.0153139369066	0.0180288848558	.	.	.	.	.	.	.	.	-3.612	-3.764	.	.	AC=2;AN=4;BQB=0.412912;DP4=48,30,50,32;DP=224;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.963801;SF=0,20;SGB=-0.693145;VDB=0.777216	GT:DP:DV:PL	0/1:73:40:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:87:42:255,0,255	.	.	.	.	T	C	0	2	Solute carrier family 5 (sodium dependent vitamin transporter), member 6	.	.	.	9516450	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SYMPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SOLUTE_SODIUM_SYMPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_VITAMIN_B5_PANTOTHENATE_METABOLISM;REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_VITAMINS_NUCLEOSIDES_AND_RELATED_MOLECULES	
L	2	27447307	rs186063223	A	G	222	PASS	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	exonic	NM_001306079,NM_004341	.	synonymous SNV	CAD:NM_001306079:exon9:c.A1203G:p.S401S,CAD:NM_004341:exon9:c.A1203G:p.S401S	ENST00000403525.1,ENST00000264705.4	.	2p23.3	.	.	.	.	.	rs186063223	.	.	0.0116279	0.0099	0.00199681	.	0.0005	0.0064	0.00612556860643	0.00961538064904	.	.	.	.	.	.	.	.	-1.676	-3.546	.	.	AC=1;AN=2;BQB=0.795477;DP4=19,10,23,6;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.832001;SF=20;SGB=-0.693079;VDB=0.0710601	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:29:255,0,255	.	.	.	.	A	G	0	1	?Congenital disorder of glycosylation, type Iz, 616457 (3)	.	.	.	25678555|23429704|23429703|11717437|10659854|8100805|2565865|1967494	.	.	LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM;KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM	PID_MYC_ACTIVPATHWAY	.	REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_PYRIMIDINE_METABOLISM	
M	2	27551394	rs540058222	T	C	222	PASS	GTF3C2	general transcription factor IIIC, polypeptide 2, beta 110kDa	exonic	NM_001035521,NM_001521	.	missense SNV	GTF3C2:NM_001035521:exon16:c.A2197G:p.I733V,GTF3C2:NM_001521:exon17:c.A2197G:p.I733V	ENST00000264720.3,ENST00000359541.2	.	2p23.3	.	.	.	.	.	rs540058222	.	.	0	0.002	0.000399361	.	5.766e-05	0.0007	.	.	0.521,T	0.002,B	0.001,B	0.656073,N	0.013082,N	-1.01,N	-0.6,T	4.5552	2.109	1.373	.	3.91	AC=1;AN=2;BQB=0.8246;DP4=11,7,10,6;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.833358;SF=20;SGB=-0.689466;VDB=0.00143806	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:16:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	DNA_BINDING	.	.	.	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION	
H	2	27684708	rs754154643	G	C	222	PASS	IFT172	intraflagellar transport 172	splicing	NM_015662	NM_015662:exon21:c.2116-5C>G	.	.	ENST00000260570.3	.	2p23.3	.	.	.	.	.	rs754154643	.	.	.	.	.	.	1.649e-05	0.0002	.	.	.	.	.	.	.	.	.	.	-0.045	2.137	.	.	AC=1;AN=2;BQB=0.634153;DP4=12,12,7,6;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.125824;SF=20;SGB=-0.683931;VDB=0.00174777	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:13:255,0,255	.	.	.	.	G	C	0	1	Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3); Retinitis pigmentosa 71, 616394 (3)	.	.	.	25168386|24140113|14603322|10788441|10574461	.	.	.	.	PID_HEDGEHOG_GLIPATHWAY	.	.	
H	2	27741783	rs146285804	G	T	97	PASS	GCKR	glucokinase (hexokinase 4) regulator	exonic	NM_001486	.	missense SNV	GCKR:NM_001486:exon17:c.G1551T:p.W517C	ENST00000424318.2,ENST00000264717.2	.	2p23.3	.	.	.	.	.	rs146285804	.	.	0.00664452	0.006	0.00119808	.	0.0002	0.0023	0.00664452	0.00664452	0.098,T	0.838,P	0.991,D	0.995246,D	0.003010,N	1.1,L	-1.71,D	9.9838	2.211	1.672	5.118106,25.4	4.04	AC=1;AN=2;BQB=0.544711;DP4=4,6,3,2;DP=17;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.954207;MQSB=0.921243;RPB=0.970446;SF=20;SGB=-0.590765;VDB=0.288695	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:5:130,0,212	.	.	.	.	G	T	0	1	[Fasting plasma glucose level QTL 5], 613463 (3)	.	.	.	24226772|21886157|20081858|19643913|18678614|18556336|10713097|10588736|9570959|8662230|8589523|7508874	.	.	ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_GLUCOSE_TRANSPORT;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_REGULATION_OF_GLUCOKINASE_BY_GLUCOKINASE_REGULATORY_PROTEIN	
H	2	29420550	rs3738869	T	C	208.67	PASS	ALK	anaplastic lymphoma receptor tyrosine kinase	splicing	NM_004304	NM_004304:exon27:c.3939-8A>G	.	.	ENST00000389048.3,ENST00000431873.1	.	2p23.2	.	.	.	.	.	rs3738869	.	.	0.0299003	0.0268	0.00579073	.	0.0017	0.0223	0.0206738032159	0.0288461425481	.	.	.	.	.	.	.	.	-0.510	-0.411	.	.	AC=3;AN=6;BQB=0.999625;DP4=16,21,14,16;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.236914;SF=3,6,20;SGB=-0.676189;VDB=0.0737652	GT:DP:DV:PL	.	.	.	0/1:25:11:255,0,255	.	.	0/1:27:9:217,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:10:255,0,143	.	.	.	.	T	C	0	3	{Neuroblastoma, susceptibility to, 3}, 613014 (3)	.	.	.	26444240|25337876|22071890|20979473|20971950|18923525|18923524|18923523|18724359|18469826|17922009|17625570|17111047|14523447|14523446|12112524|9490693|8122112|7736780	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
H	2	31147683	rs543670916	C	G	163	PASS	GALNT14	polypeptide N-acetylgalactosaminyltransferase 14	exonic	NM_001253826,NM_001253827,NM_024572	.	missense SNV	GALNT14:NM_024572:exon12:c.G1158C:p.E386D,GALNT14:NM_001253826:exon13:c.G1173C:p.E391D,GALNT14:NM_001253827:exon14:c.G1098C:p.E366D	ENST00000486564.1,ENST00000406653.1,ENST00000349752.5,ENST00000324589.5,ENST00000420311.2,ENST00000356174.3	.	2p23.1	.	.	Score=830;Name=V$GR_Q6	.	.	rs543670916	.	.	0	.	0.000199681	.	0.0001	0.0013	.	.	0.149,T	0.005,B	0.002,B	0.605501,N	0.054769,N	0.55,N	1.58,T	9.8972	0.934	1.488	2.611273,20.3	2.39	AC=2;AN=4;BQB=0.961166;DP4=7,12,5,11;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=1;RPB=0.828239;SF=12,20;SGB=-0.616816;VDB=0.839859	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:6:137,0,153	.	.	.	.	.	.	.	0/1:22:10:255,0,255	.	.	.	.	C	G	0	2	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14	.	.	.	12507512	.	.	.	KEGG_O_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	2	32768427	rs148397523	G	A	222	PASS	BIRC6	baculoviral IAP repeat containing 6	exonic	NM_016252	.	synonymous SNV	BIRC6:NM_016252:exon62:c.G12411A:p.A4137A	ENST00000421745.2	.	2p22.3	.	.	.	.	.	rs148397523	.	.	0	.	0.000199681	0.0012	0.0015	0	.	.	.	.	.	.	.	.	.	.	-2.171	-0.894	1.520813,13.42	.	AC=2;AN=4;BQB=0.962374;DP4=19,8,14,9;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898944;SF=3,20;SGB=-0.676189;VDB=0.164715	GT:DP:DV:PL	.	.	.	0/1:23:11:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:255,0,255	.	.	.	.	G	A	0	2	Baculoviral IAP repeat-containing protein-6	.	.	.	25616966|18329369|15485903|15300255|14765125|10574462|10544019	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;ANTI_APOPTOSIS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	.	.	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	.	PM2
H	2	54117338	.	T	A	116	PASS	PSME4	proteasome activator subunit 4	exonic	NM_014614	.	missense SNV	PSME4:NM_014614:exon37:c.A4199T:p.K1400M	ENST00000421748.2,ENST00000404125.1	.	2p16.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026,D	0.575,P	0.975,D	0.960075,D	0.012771,N	1.385,L	-0.25,T	9.8235	2.030	2.057	4.974486,25.1	4.23	AC=1;AN=2;BQB=0.845852;DP4=4,8,1,7;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.913904;SF=20;SGB=-0.651104;VDB=0.947685	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:8:149,0,255	.	.	.	.	T	A	0	1	Proteasome activator subunit 4	.	.	.	12093752|7584044	.	.	.	KEGG_PROTEASOME	.	.	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	PM2
L	2	54482553	rs17189743	G	A	222	PASS	TSPYL6	TSPY-like 6	exonic	NM_001003937	.	missense SNV	TSPYL6:NM_001003937:exon1:c.C736T:p.R246C	ENST00000317802.7,ENST00000607452.1,ENST00000606865.1,ENST00000303536.4,ENST00000394666.3	.	2p16.2	.	.	.	.	.	rs17189743	.	.	0.0182724	0.0208	0.0203674	0.0169	0.0269	0.0184	0.0107197413783	0.0156249811298	0.011,D	0.915,D	0.992,D	0.999999,N	.	1.935,L	1.72,T	5.5915	-0.162	0.124	4.146150,23.8	.	AC=1;AN=2;BQB=0.945864;DP4=55,14,52,16;DP=191;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946541;SF=20;SGB=-0.693147;VDB=0.142621	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:137:68:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	2	63720067	rs144703991	T	A	222	PASS	WDPCP	WD repeat containing planar cell polarity effector	exonic	NM_015910	.	missense SNV	WDPCP:NM_015910:exon2:c.A83T:p.D28V	ENST00000409562.3,ENST00000409835.1,ENST00000272321.7	.	2p15	.	.	.	.	.	rs144703991	.	.	0.0149502	0.0198	0.00638978	0.0002	0.0015	0.0134	0.00995407479326	0.0120192563702	0.012,D	0.316,B	0.815,P	0.511802,D	0.030388,N	1.525,L	-0.15,T	3.9683	2.171	1.123	2.404917,18.85	5.38	AC=3;AN=6;BQB=0.996074;DP4=29,29,37,20;DP=161;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.207334;SF=8,9,20;SGB=-0.689466;VDB=0.238482	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:38:16:255,0,255	0/1:37:19:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:40:22:255,0,255	.	.	.	.	T	A	0	3	?Bardet-Biedl syndrome 15, 615992 (3); ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)	.	.	.	25427950|24302887|20671153|15654087	.	.	.	.	.	.	.	
H	2	71212381	rs141581897	G	A	222	PASS	ANKRD53	ankyrin repeat domain 53	exonic	NM_001115116	.	missense SNV	ANKRD53:NM_001115116:exon6:c.G1544A:p.R515Q	ENST00000360589.3,ENST00000606025.1,ENST00000272421.6,ENST00000457410.1,ENST00000441349.1	.	2p13.3	.	.	.	.	.	rs141581897	.	.	0.0398671	0.0456	0.00938498	.	0.0011	0.0380	0.0298295	0.0384615290865	0.103,T	0.022,B	0.493,P	1,N	0.948311,N	1.085,L	-0.03,T	7.5625	-0.075	-0.156	.	.	AC=2;AN=4;BQB=0.953497;DP4=14,15,15,18;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983927;SF=3,20;SGB=-0.686358;VDB=0.435222	GT:DP:DV:PL	.	.	.	0/1:26:14:255,0,236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:19:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	2	71591317	.	G	A	222	PASS	ZNF638	zinc finger protein 638	exonic	NM_001014972,NM_001252612,NM_001252613,NM_014497	.	missense SNV	ZNF638:NM_001014972:exon5:c.G1652A:p.G551D,ZNF638:NM_001252612:exon5:c.G1652A:p.G551D,ZNF638:NM_001252613:exon5:c.G1652A:p.G551D,ZNF638:NM_014497:exon5:c.G1652A:p.G551D	ENST00000377802.2,ENST00000264447.4,ENST00000409544.1,ENST00000410075.1,ENST00000355812.3	.	2p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035,D	0.892,P	0.999,D	0.999206,N	0.013889,N	2.35,M	-0.07,T	4.4554	0.195	0.512	2.275719,18.01	2.35	AC=1;AN=2;BQB=0.782349;DP4=5,10,8,3;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.630689;SF=20;SGB=-0.676189;VDB=0.247426	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:11:255,0,255	.	.	.	.	G	A	0	1	Zinc finger protein 638	.	.	.	21602272|11813260|8647861	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;RNA_SPLICING	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART	RNA_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	.	.	.	.	PM2
H	2	73679648	rs774242715	T	G	222	PASS	ALMS1	Alstrom syndrome protein 1	exonic	NM_015120	.	missense SNV	ALMS1:NM_015120:exon8:c.T5991G:p.I1997M	ENST00000409009.1,ENST00000377715.1,ENST00000264448.6	.	2p13.1	.	.	.	.	.	rs774242715	.	.	.	.	.	.	1.66e-05	0.0002	.	.	0.006,D	0.991,D	1.0,D	0.992922,N	0.086115,N	1.59,L	1.93,T	3.5069	0.321	0.915	3.377572,22.9	.	AC=1;AN=2;BQB=0.856767;DP4=13,5,21,6;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996718;SF=20;SGB=-0.693021;VDB=0.94341	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:27:255,0,255	.	.	.	.	T	G	0	1	Alstrom syndrome, 203800 (3)	.	.	.	21901789|21877133|17850632|17594715|17206865|16000322|11941370|11941369|10598815|9921899|9409865|9205841|9063741	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	
H	2	74425769	rs199529089	A	G	222	PASS	MTHFD2	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	exonic	NM_006636	.	missense SNV	MTHFD2:NM_006636:exon1:c.A1G:p.M1V	ENST00000477455.1,ENST00000394050.3,ENST00000264090.4,ENST00000409601.1,ENST00000409804.1,ENST00000394053.2	CpG: 109	2p13.1	.	.	.	.	.	rs199529089	.	.	0.00830565	0.005	0.000998403	.	0.0008	0.0106	0.00459417924962	0.00830565	0.0,D	0.761,P	0.713,P	1,D	.	.	1.01,T	10.6339	2.287	1.701	2.671697,20.6	4.58	AC=1;AN=2;BQB=0.967057;DP4=17,11,12,6;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.605571;SF=20;SGB=-0.691153;VDB=0.0266329	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:18:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		COFACTOR_METABOLIC_PROCESS;COENZYME_METABOLIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;AROMATIC_COMPOUND_METABOLIC_PROCESS;HETEROCYCLE_METABOLIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_NH_GROUP_OF_DONORS;OXIDOREDUCTASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_CYCLIC_AMIDINES;ION_BINDING;MAGNESIUM_ION_BINDING	KEGG_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM;KEGG_ONE_CARBON_POOL_BY_FOLATE	.	.	.	
H	2	84670528	rs141973418	A	G	222	PASS	SUCLG1	succinate-CoA ligase, alpha subunit	splicing	NM_003849	NM_003849:exon3:c.202-4T>C	.	.	ENST00000393868.2	.	2p11.2	.	.	.	.	.	rs141973418	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000128336.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0365449	0.0248	0.00499201	.	0.0015	0.0202	0.0229709067381	0.0312500346154	.	.	.	.	.	.	.	.	0.112	-1.386	1.365036,12.61	2.09	AC=1;AN=2;BQB=0.65416;DP4=7,6,8,7;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.908686;SF=20;SGB=-0.688148;VDB=0.239789	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:15:255,0,255	.	.	.	.	A	G	0	1	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)	.	.	.	20693550|19526370|17668387|9128182	.	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	.	KEGG_CITRATE_CYCLE_TCA_CYCLE;KEGG_PROPANOATE_METABOLISM	.	.	REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE;REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_CITRIC_ACID_CYCLE_TCA_CYCLE	BP6
H	2	84861727	rs571512486	C	G	132	PASS	DNAH6	dynein, axonemal, heavy chain 6	exonic	NM_001370	.	missense SNV	DNAH6:NM_001370:exon30:c.C4615G:p.Q1539E	ENST00000398278.2,ENST00000237449.6,ENST00000389394.3	.	2p11.2	.	.	Score=840;Name=V$RFX1_01	.	.	rs571512486	.	.	0.00498339	0.003	0.000599042	.	9.366e-05	0.0032	0.00142045	0.00498339	0.0,D	0.773,P	0.938,P	0.508735,N	.	2.215,M	3.01,T	18.7696	2.733	2.123	5.363489,25.9	5.78	AC=1;AN=2;BQB=0.840624;DP4=9,0,4,2;DP=20;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.309248;SF=20;SGB=-0.616816;VDB=0.530999	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:6:165,0,216	.	.	.	.	C	G	0	1	Dynein, axonemal, heavy chain 6	.	.	.	15937072|11175280|8812413	.	.	.	.	.	.	.	
L	2	85032872	rs529697769	C	T	222	PASS	DNAH6	dynein, axonemal, heavy chain 6	exonic	NM_001370	.	synonymous SNV	DNAH6:NM_001370:exon71:c.C11565T:p.D3855D	ENST00000237449.6,ENST00000389394.3	.	2p11.2	.	.	.	.	.	rs529697769	.	.	0	0.001	0.000399361	.	9.091e-05	0.0016	.	.	.	.	.	.	.	.	.	.	0.427	3.834	2.017842,16.33	3.27	AC=1;AN=2;BQB=0.851535;DP4=6,3,11,3;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960618;SF=20;SGB=-0.686358;VDB=0.054143	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:14:255,0,243	.	.	.	.	C	T	0	1	Dynein, axonemal, heavy chain 6	.	.	.	15937072|11175280|8812413	.	.	.	.	.	.	.	
H	2	85051128	rs2288352	C	T	212	PASS	TRABD2A	TraB domain containing 2A	exonic	NM_001080824,NM_001277053	.	missense SNV	TRABD2A:NM_001080824:exon5:c.G1136A:p.R379Q,TRABD2A:NM_001277053:exon6:c.G1283A:p.R428Q	ENST00000479944.1,ENST00000335459.5,ENST00000409520.2	.	2p11.2	.	.	.	.	.	rs2288352	.	.	0.0415282	0.0327	0.00658946	.	0.0021	0.0289	0.0321592321593	0.0336538237981	0.271,T	0.168,B	0.792,P	1,N	0.141448,N	1.87,L	1.9,T	0.2298	-0.563	0.100	0.967769,10.48	.	AC=1;AN=2;BQB=0.910176;DP4=16,2,14,1;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983793;SF=20;SGB=-0.688148;VDB=0.219508	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:15:245,0,255	.	.	.	.	C	T	0	1	TRAB domain-containing protein 2A	.	.	.	22726442	.	.	.	.	.	.	.	
L	2	85577182	rs141214963	G	A	213	PASS	RETSAT	retinol saturase (all-trans-retinol 13,14-reductase)	exonic	NM_017750	.	synonymous SNV	RETSAT:NM_017750:exon4:c.C780T:p.S260S	ENST00000457495.2,ENST00000263854.6,ENST00000295802.4	.	2p11.2	.	.	.	.	.	rs141214963	.	.	0.0415282	0.0397	0.00798722	.	0.0026	0.0353	0.0415282	0.0420672901442	.	.	.	1,D	.	.	.	8.703	1.414	3.612	1.250888,12.01	4.84	AC=2;AN=4;BQB=0.935229;DP4=33,1,29,3;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.367442;SF=7,20;SGB=-0.680642;VDB=0.775148	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:27:12:237,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:20:255,0,253	.	.	.	.	G	A	0	2	.	.	.	.		ISOPRENOID_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;LIPID_METABOLIC_PROCESS;ELECTRON_TRANSPORT_GO_0006118;SECONDARY_METABOLIC_PROCESS;VITAMIN_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;HORMONE_METABOLIC_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;NUCLEUS;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;OUTER_MEMBRANE;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_OUTER_MEMBRANE;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;NUCLEAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;NUCLEAR_MEMBRANE_PART;ENDOPLASMIC_RETICULUM_PART	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS	KEGG_RETINOL_METABOLISM	.	.	.	
L	2	86371648	rs117502474	G	A	217.75	PASS	IMMT	inner membrane protein, mitochondrial	exonic	NM_001100169,NM_001100170,NM_006839	.	synonymous SNV	IMMT:NM_001100169:exon15:c.C2017T:p.L673L,IMMT:NM_001100170:exon15:c.C1987T:p.L663L,IMMT:NM_006839:exon15:c.C2020T:p.L674L	ENST00000442664.2,ENST00000410111.3,ENST00000449247.2,ENST00000409051.2,ENST00000254636.5	.	2p11.2	.	.	.	.	.	rs117502474	.	.	0.0332226	0.0278	0.00559105	.	0.0024	0.0319	0.0382848235835	0.0372596252404	.	.	.	1,D	.	.	.	11.6366	0.847	3.178	.	3.59	AC=5;AN=8;BQB=0.904296;DP4=39,14,56,25;DP=160;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.969842;SF=6,18,20,23;SGB=-0.693132;VDB=0.868835	GT:DP:DV:PL	.	.	.	.	.	.	1/1:34:34:255,102,0	.	.	.	.	.	.	.	.	.	.	.	0/1:37:15:237,0,255	.	0/1:33:16:250,0,255	.	.	0/1:30:16:255,0,255	.	G	A	1	3	Inner membrane protein, mitochondrial (mitofilin)	.	.	.	22228767|21944719|17624330|15647377|9168817|8039717	.	ORGANELLE_PART;ORGANELLE_INNER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE;CYTOPLASM;ORGANELLE_MEMBRANE;ENVELOPE;ORGANELLE_ENVELOPE;MITOCHONDRIAL_INNER_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE	.	.	.	.	.	
L	2	86831701	rs143334428	G	A	222	PASS	RNF103	ring finger protein 103	exonic	NM_001198951,NM_005667	.	synonymous SNV	RNF103:NM_005667:exon4:c.C1323T:p.N441N,RNF103:NM_001198951:exon5:c.C1311T:p.N437N	ENST00000426549.1,ENST00000237455.4,ENST00000439940.2,ENST00000424788.1,ENST00000439077.1,ENST00000604011.1,ENST00000597638.1	.	2p11.2	.	.	.	.	.	rs143334428	.	.	0.013289	0.0169	0.00359425	0.0002	0.0010	0.0125	0.0084226458193	0.0144230492788	.	.	.	.	.	.	.	.	1.377	1.355	.	3.79	AC=1;AN=2;BQB=0.812671;DP4=4,6,7,7;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.662419;SF=20;SGB=-0.686358;VDB=0.00993991	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:14:255,0,246	.	.	.	.	G	A	0	1	Zinc finger protein 103, mouse, homolog of	.	.	.	9070305	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	.	.	.	.	.	
L	2	88125234	rs550032815	T	C	57.18	PASS	RGPD2	RANBP2-like and GRIP domain containing 2	exonic	NM_001078170	.	synonymous SNV	RGPD2:NM_001078170:exon1:c.A15G:p.K5K	ENST00000327544.6,ENST00000398146.3,ENST00000420840.2	CpG: 31	2p11.2	.	.	.	.	.	rs550032815	.	.	0	.	0.000798722	.	0.0007	0	.	0.0434783	.	.	.	.	.	.	.	.	0.020	0.414	.	.	AC=3;AN=6;BQB=0.170423;DP4=36,11,1,21;DP=97;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=7.48518e-05;MQSB=0.0429032;RPB=0.614726;SF=5,12,20;SGB=-0.670168;VDB=0.422799	GT:DP:DV:PL	.	.	.	.	.	0/1:29:10:120,0,255	.	.	.	.	.	.	0/1:12:3:60,0,234	.	.	.	.	.	.	.	0/1:28:9:95,0,255	.	.	.	.	T	C	0	3	RANBP2-like and GRIP domain-containing protein 2	.	.	.	15710750	.	.	.	.	.	.	.	
H	2	88387389	rs200005035	C	T	182	PASS	SMYD1	SET and MYND domain containing 1	exonic	NM_198274	.	missense SNV	SMYD1:NM_198274:exon3:c.C323T:p.A108V	ENST00000468008.1,ENST00000419482.2,ENST00000444564.2,ENST00000438570.1	.	2p11.2	.	.	Score=814;Name=V$MYCMAX_03	.	.	rs200005035	.	.	0.00332226	0.004	0.000798722	.	0.0013	0.0179	0.00332226	0.0036057709375	0.004,D	0.876,P	0.997,D	1,D	0.000004,D	2.33,M	1.77,T	17.2354	2.363	4.559	6.143874,28.4	4.82	AC=1;AN=2;BQB=0.976718;DP4=10,3,8,2;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998079;SF=20;SGB=-0.670168;VDB=0.967056	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:10:215,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PP3
M	2	88828670	rs201177266	C	T	222	PASS	TEX37	testis expressed 37	exonic	NM_152670	.	missense SNV	TEX37:NM_152670:exon4:c.C221T:p.P74L	ENST00000303254.3	.	2p11.2	.	.	Score=911;Name=V$TCF11_01	.	.	rs201177266	.	.	0.00332226	0.003	0.000599042	.	2.471e-05	0.0003	0.00332226	0.00332226	1.0,T	0.015,B	0.008,B	0.999999,N	0.220608,N	1.5,L	0.98,T	7.5851	-0.184	-1.261	.	.	AC=1;AN=2;BQB=0.908454;DP4=37,11,30,15;DP=126;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989937;SF=20;SGB=-0.693147;VDB=0.00519252	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:45:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	96521324	rs5005868	A	G	177.6	PASS	ANKRD36C	ankyrin repeat domain 36C	exonic	NM_001310154	.	missense SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	ENST00000419039.2,ENST00000456556.1,ENST00000420871.2	.	2q11.1	.	.	.	Score=0.960508;Name=chrUn_gl000212:991	.	rs5005868	.	.	.	.	.	.	0.0351	0.0369	.	0.221739	0.061,T	.	.	0.999854,N	.	.	2.41,T	8.1147	1.218	0.837	1.151739,11.49	2.11	AC=25;AN=50;BQB=0.0770241;DP4=935,412,167,585;DP=2762;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=7.25852e-11;MQSB=0.000244516;RPB=5.65791e-07;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693127;VDB=6.84678e-07	GT:DP:DV:PL	0/1:93:33:225,0,255	0/1:88:37:255,0,255	0/1:86:29:221,0,255	0/1:83:24:174,0,255	0/1:81:21:123,0,255	0/1:90:28:217,0,255	0/1:83:21:179,0,255	0/1:82:24:181,0,255	0/1:92:41:255,0,255	0/1:74:24:195,0,255	0/1:86:35:255,0,255	0/1:78:24:237,0,255	0/1:50:17:109,0,255	0/1:66:27:255,0,255	0/1:60:20:236,0,255	0/1:91:30:229,0,255	0/1:99:30:175,0,255	0/1:59:22:172,0,255	0/1:98:38:194,0,255	0/1:81:34:255,0,255	0/1:105:47:255,0,255	0/1:106:38:244,0,255	0/1:58:18:181,0,255	0/1:84:30:207,0,255	0/1:126:60:255,0,255	A	G	0	25	.	.	.	.		.	.	.	.	.	.	.	
L	2	96521334	rs201192250	T	C	66.37	PASS	ANKRD36C	ankyrin repeat domain 36C	exonic	NM_001310154	.	missense SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	ENST00000419039.2,ENST00000456556.1,ENST00000420871.2	.	2q11.1	.	.	.	Score=0.960508;Name=chrUn_gl000212:991	.	rs201192250	.	.	.	.	.	.	0.0008	0.0002	.	0.134783	0.141,T	.	.	1,N	.	.	2.59,T	3.4421	-0.579	0.735	.	.	AC=2;AN=4;BQB=0.971441;DP4=66,51,6,27;DP=193;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=0.000909919;MQSB=0.269908;RPB=0.0523171;SF=14,20;SGB=-0.662043;VDB=0.0337118	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:9:68,0,255	.	.	.	.	.	0/1:93:24:136,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	2	96521336	rs5005867	T	C	132.67	PASS	ANKRD36C	ankyrin repeat domain 36C	exonic	NM_001310154	.	missense SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	ENST00000419039.2,ENST00000456556.1,ENST00000420871.2	.	2q11.1	.	.	.	Score=0.960508;Name=chrUn_gl000212:991	.	rs5005867	.	.	.	.	.	.	0.0306	0.0337	.	0.234783	0.17,T	.	.	1,N	.	.	2.4,T	2.5409	0.218	1.728	.	.	AC=25;AN=50;BQB=0.0764597;DP4=951,434,100,546;DP=2625;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=4.8027e-10;MQSB=2.37784e-05;RPB=0.00011602;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693021;VDB=2.78477e-06	GT:DP:DV:PL	0/1:91:27:154,0,255	0/1:83:31:190,0,255	0/1:84:26:171,0,255	0/1:78:23:133,0,255	0/1:86:20:71,0,255	0/1:78:21:151,0,255	0/1:74:15:107,0,255	0/1:82:21:144,0,255	0/1:90:37:229,0,255	0/1:75:20:133,0,255	0/1:80:26:210,0,255	0/1:71:18:196,0,255	0/1:45:15:108,0,255	0/1:67:24:232,0,255	0/1:59:17:157,0,255	0/1:96:29:178,0,255	0/1:94:25:156,0,255	0/1:59:21:166,0,255	0/1:96:35:133,0,255	0/1:76:29:241,0,255	0/1:92:35:198,0,255	0/1:110:36:151,0,255	0/1:60:18:151,0,255	0/1:78:23:157,0,255	0/1:127:54:255,0,255	T	C	0	25	.	.	.	.		.	.	.	.	.	.	.	
L	2	97845473	rs372128331	A	G	82	PASS	ANKRD36	ankyrin repeat domain 36	splicing	NM_001164315	NM_001164315:exon23:c.1634-2A>G	.	.	ENST00000420699.2,ENST00000461153.2	.	2q11.2	.	.	.	Score=0.952127;Name=chr2:89069596	.	rs372128331	.	.	0.0299003	0.0278	0.00559105	.	0.0031	0.0424	0.0299003	0.0384615247596	.	.	.	0.998831,N	.	.	.	4.5686	0.798	2.742	.	.	AC=1;AN=2;BQB=0.857112;DP4=3,2,5,0;DP=11;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=0.904729;MQSB=0.875;RPB=0.761877;SF=20;SGB=-0.590765;VDB=0.349195	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:5:115,0,125	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	2	99012373	rs148616345	C	T	222	PASS	CNGA3	cyclic nucleotide gated channel alpha 3	exonic	NM_001079878,NM_001298	.	missense SNV	CNGA3:NM_001079878:exon7:c.C686T:p.T229M,CNGA3:NM_001298:exon8:c.C740T:p.T247M	ENST00000409937.1,ENST00000436404.2,ENST00000272602.2,ENST00000393504.1	.	2q11.2	.	.	.	.	.	rs148616345	CLINSIG=Uncertain significance;CLNDBN=not_provided;CLNACC=RCV000180215.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.00166113	0.005	0.00139776	0.0017	0.0013	0.0038	0.00306278537519	0.00360576894231	0.245,T	0.025,B	0.016,B	1,N	0.038783,N	0.865,L	-4.41,D	8.5107	0.099	0.296	.	.	AC=2;AN=4;BQB=0.547416;DP4=50,21,41,12;DP=176;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.212034;SF=1,20;SGB=-0.69311;VDB=0.113332	GT:DP:DV:PL	.	0/1:69:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:22:255,0,255	.	.	.	.	C	T	0	2	Achromatopsia-2, 216900 (3)	.	Cone dystrophy(CM148763)	ACG-ATG|Thr247Met|c.740C>T|p.T247M(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24903488&dopt=Abstract)	24903488|25637600|21901789|20549516|19767295|17265047|12432397|11536077|10888875|9721202|9662398|8170936|7513422	SIGNAL_TRANSDUCTION;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	PID_CONE_PATHWAY	.	.	PS3
H	2	99181234	rs201695585	G	A	222	PASS	INPP4A	inositol polyphosphate-4-phosphatase type I A	splicing	NM_001134224,NM_001134225,NM_001566,NM_004027	NM_001134224:exon20:c.2167+8G>A;NM_001134225:exon19:c.2152+8G>A;NM_001566:exon20:c.2050+8G>A;NM_004027:exon20:c.2050+8G>A	.	.	ENST00000523221.1,ENST00000409851.3,ENST00000545415.1,ENST00000409540.3,ENST00000074304.5,ENST00000409016.4,ENST00000409463.1	.	2q11.2	.	.	.	.	.	rs201695585	.	.	0.00166113	0.005	0.000998403	8.3e-05	0.0006	0.0089	0.00229709104135	0.00360576894231	.	.	.	.	.	.	.	.	-1.779	-3.157	.	.	AC=2;AN=4;BQB=0.462945;DP4=56,18,52,17;DP=216;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.119485;SF=1,20;SGB=-0.692976;VDB=0.343446	GT:DP:DV:PL	.	0/1:62:26:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:43:255,0,255	.	.	.	.	G	A	0	2	Inositol polyphosphate-4-phosphatase, type I, 107kD	.	.	.	20463662|11683991|11485317|10702694|7608176	SIGNAL_TRANSDUCTION	.	.	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	.	
L	2	100011227	.	A	C	222	PASS	EIF5B	eukaryotic translation initiation factor 5B	exonic	NM_015904	.	synonymous SNV	EIF5B:NM_015904:exon21:c.A3135C:p.A1045A	ENST00000289371.6	.	2q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.444	-1.237	.	.	AC=1;AN=2;BQB=0.788128;DP4=9,9,9,7;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.283789;SF=20;SGB=-0.689466;VDB=0.217281	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:16:255,0,255	.	.	.	.	A	C	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_TRANSLATION;REACTOME_METABOLISM_OF_PROTEINS	PM2
H	2	100900912	rs775457517	C	T	222	PASS	LONRF2	LON peptidase N-terminal domain and ring finger 2	exonic	NM_198461	.	missense SNV	LONRF2:NM_198461:exon12:c.G2113A:p.V705M	ENST00000409647.1,ENST00000393437.3	.	2q11.2	.	.	.	.	.	rs775457517	.	.	.	.	.	.	4.059e-05	0.0002	.	.	0.0,D	0.999,D	1.0,D	1,D	0.000126,D	1.935,L	0.91,T	18.2751	2.307	4.506	6.999240,33	4.95	AC=1;AN=2;BQB=0.999945;DP4=12,16,7,13;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.747285;SF=20;SGB=-0.692067;VDB=0.0145917	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:20:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	2	101638934	rs529256836	G	A	222	PASS	TBC1D8	TBC1 domain family, member 8 (with GRAM domain)	exonic	NM_001102426	.	missense SNV	TBC1D8:NM_001102426:exon16:c.C2525T:p.S842L	ENST00000409318.1,ENST00000376840.4	.	2q11.2	.	.	.	.	.	rs529256836	.	.	0.00332226	0.004	0.000798722	.	0.0003	0.0043	0.0030627880245	0.00332226	0.347,T	0.0,B	0.0,B	1,N	0.820101,N	-0.6,N	0.99,T	4.8769	0.209	0.603	.	2.59	AC=1;AN=2;BQB=0.841025;DP4=9,12,16,10;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.661319;SF=20;SGB=-0.692976;VDB=0.0349983	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:26:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;SYSTEM_PROCESS;REGULATION_OF_CELL_PROLIFERATION	MEMBRANE	.	.	.	.	.	
H	2	102644771	rs148258277	C	T	222	PASS	IL1R2	interleukin 1 receptor, type II	exonic	NM_004633	.	missense SNV	IL1R2:NM_004633:exon9:c.C1114T:p.R372W	ENST00000332549.3,ENST00000393414.2,ENST00000485335.1	.	2q11.2	.	.	.	.	.	rs148258277	.	.	0.0149502	0.0149	0.00299521	.	0.0011	0.0148	0.0107197691271	0.0120192563702	0.124,T	0.003,B	0.014,B	1,N	0.404895,N	2.175,M	1.42,T	3.4816	0.095	-0.293	2.493193,19.42	.	AC=1;AN=2;BQB=0.928296;DP4=11,1,13,1;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979058;SF=20;SGB=-0.686358;VDB=0.935097	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:14:255,0,255	.	.	.	.	C	T	0	1	Interleukin-1 receptor, type II	.	.	.	14976157|10191101|8332913|1833184	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	.	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE	PID_IL1PATHWAY	.	REACTOME_SIGNALING_BY_ILS;REACTOME_IL1_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	
L	2	107032417	rs9653483	A	G	213.59	PASS	RGPD3	RANBP2-like and GRIP domain containing 3	exonic	NM_001144013	.	synonymous SNV	RGPD3:NM_001144013:exon21:c.T4953C:p.T1651T	ENST00000304514.7,ENST00000409886.3	.	2q12.2	.	.	.	Score=0.991555;Name=chr2:108442329	.	rs9653483	.	.	.	.	.	.	0.0098	0.0432	.	0.43913	.	.	.	.	.	.	.	.	-0.126	3.137	.	.	AC=33;AN=44;BQB=0.891351;DP4=49,117,147,324;DP=820;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.000914066;MQSB=0.92205;RPB=0.654426;SF=0,1,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.69168;VDB=0.0135216	GT:DP:DV:PL	0/1:32:19:255,0,255	0/1:25:10:207,0,255	.	1/1:30:30:255,90,0	1/1:27:27:255,81,0	1/1:32:32:255,96,0	1/1:31:31:255,93,0	0/1:33:15:255,0,255	1/1:21:21:255,63,0	1/1:31:31:255,93,0	1/1:31:31:255,93,0	.	1/1:23:23:255,69,0	0/1:21:11:235,0,255	0/1:22:12:255,0,253	0/1:35:18:255,0,235	0/1:46:17:244,0,255	1/1:26:26:255,78,0	0/1:28:15:199,0,242	.	1/1:43:43:255,129,0	0/1:29:12:196,0,255	0/1:19:10:224,0,236	0/1:27:12:230,0,255	1/1:25:25:255,75,0	A	G	11	11	RANBP2-like and GRIP domain-containing protein 3	.	.	.	15710750	.	.	.	.	.	.	.	
L	2	107049593	rs202028443	T	C	213.14	PASS	RGPD3	RANBP2-like and GRIP domain containing 3	exonic	NM_001144013	.	missense SNV	RGPD3:NM_001144013:exon16:c.A2354G:p.K785R	ENST00000304514.7,ENST00000409886.3	.	2q12.2	.	.	.	Score=0.991555;Name=chr2:108442329	.	rs202028443	.	.	.	.	.	.	0.0015	0.0284	.	0.00434783	0.18,T	0.001,B	0.0,B	0.999433,N	.	2.11,M	2.04,T	2.5662	-1.500	1.451	.	.	AC=9;AN=14;BQB=1;DP4=88,105,165,151;DP=646;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=1;MQSB=0.15516;RPB=1;SF=3,6,12,17,18,20,22;SGB=-0.693147;VDB=0.00194011	GT:DP:DV:PL	.	.	.	1/1:60:59:255,163,0	.	.	0/1:77:36:255,0,255	.	.	.	.	.	1/1:56:54:255,117,0	.	.	.	.	0/1:62:29:255,0,255	0/1:119:44:255,0,255	.	0/1:99:81:255,0,32	.	0/1:36:13:184,0,255	.	.	T	C	2	5	RANBP2-like and GRIP domain-containing protein 3	.	.	.	15710750	.	.	.	.	.	.	.	
L	2	107052956	rs567096600	C	T	222	PASS	RGPD3	RANBP2-like and GRIP domain containing 3	exonic	NM_001144013	.	synonymous SNV	RGPD3:NM_001144013:exon11:c.G1548A:p.L516L	ENST00000304514.7,ENST00000409886.3	.	2q12.2	.	.	Score=842;Name=V$ELK1_01	Score=0.991555;Name=chr2:108442329	.	rs567096600	.	.	0.0166113	0.0268	0.0071885	.	0.0039	0.025	0.0166113	0.0166113	.	.	.	.	.	.	.	.	0.404	0.132	.	.	AC=1;AN=2;BQB=0.592909;DP4=26,8,23,7;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.592909;MQSB=0.0243453;RPB=0.155121;SF=20;SGB=-0.693097;VDB=0.0782631	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:30:255,0,255	.	.	.	.	C	T	0	1	RANBP2-like and GRIP domain-containing protein 3	.	.	.	15710750	.	.	.	.	.	.	.	
L	2	107073489	rs57485627	C	T	55.98	PASS	RGPD3	RANBP2-like and GRIP domain containing 3	exonic	NM_001144013	.	missense SNV	RGPD3:NM_001144013:exon4:c.G343A:p.E115K	ENST00000304514.7,ENST00000409886.3	.	2q12.2	.	.	.	Score=0.991555;Name=chr2:108442329	.	rs57485627	.	.	.	.	.	.	3.304e-05	0	.	0.0173913	1.0,T	0.0,B	0.0,B	0.999999,N	.	-1.145,N	1.16,T	4.7282	0.213	2.304	.	2.57	AC=3;AN=6;BQB=0.243713;DP4=50,23,27,0;DP=136;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.00197758;MQSB=0.971095;RPB=0.0117026;SF=5,18,20;SGB=-0.651104;VDB=0.0710944	GT:DP:DV:PL	.	.	.	.	.	0/1:33:8:89,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:13:111,0,255	.	0/1:25:6:72,0,255	.	.	.	.	C	T	0	3	RANBP2-like and GRIP domain-containing protein 3	.	.	.	15710750	.	.	.	.	.	.	.	
H	2	108921867	rs559820602	G	A	222	PASS	SULT1C2	sulfotransferase family, cytosolic, 1C, member 2	splicing	NM_001056,NM_176825	NM_001056:exon7:c.598-4G>A;NM_176825:exon8:c.631-4G>A	.	.	ENST00000251481.6,ENST00000326853.5,ENST00000409880.1,ENST00000437390.2	.	2q12.3	.	.	.	.	.	rs559820602	.	.	0	.	0.000199681	.	9.954e-05	0.0009	.	.	.	.	.	.	.	.	.	.	-0.279	-0.289	.	.	AC=2;AN=4;BQB=0.997354;DP4=21,3,26,9;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992668;SF=13,20;SGB=-0.686358;VDB=0.759007	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,239	.	.	.	.	.	.	0/1:32:21:255,0,234	.	.	.	.	G	A	0	2	Sulfotransferase 1C1	.	.	.	10783263|9852044|9169148	NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS	CYTOPLASM	SULFOTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	.	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES;REACTOME_PHASE_II_CONJUGATION	
L	2	113942615	.	G	A	222	PASS	PSD4	pleckstrin and Sec7 domain containing 4	exonic	NM_012455	.	missense SNV	PSD4:NM_012455:exon3:c.G1138A:p.D380N	ENST00000245796.6,ENST00000441564.3	.	2q13	.	.	Score=883;Name=V$COUP_01	.	Score=484;Name="2429057:MIRc(SINE)"	.	.	.	.	.	.	.	.	.	0.00142045	.	0.237,T	0.004,B	0.004,B	1,N	0.038200,N	0.805,L	2.78,T	0.958	-0.401	-0.049	1.137968,11.42	.	AC=1;AN=2;BQB=0.988721;DP4=17,10,13,7;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.547669;SF=20;SGB=-0.692067;VDB=0.0697235	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:20:255,0,255	.	.	.	.	G	A	0	1	Pleckstrin and Sec7 domains-containing protein 4	.	.	.	21458045|12082148	.	.	.	KEGG_ENDOCYTOSIS	.	.	.	PM2
L	2	114257266	rs142136016	C	T	73.05	PASS	FOXD4L1	forkhead box D4-like 1	exonic	NM_012184	.	missense SNV	FOXD4L1:NM_012184:exon1:c.C433T:p.R145C	ENST00000306507.5	CpG: 103	2q13	.	.	.	Score=0.987317;Name=chr9:10411	.	rs142136016	.	.	.	.	.	.	0.0080	0.0424	.	.	0.008,D	0.075,B	0.208,B	0.999998,D	0.006487,U	3.53,H	-4.03,D	6.7523	1.452	1.153	4.874667,24.9	2.57	AC=3;AN=6;BQB=0.68819;DP4=87,77,40,18;DP=316;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.000940228;MQSB=0.925765;RPB=0.999269;SF=11,20,23;SGB=-0.688148;VDB=0.00445677	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:66:15:88,0,255	.	.	.	.	.	.	.	.	0/1:78:26:175,0,255	.	.	0/1:78:17:62,0,255	.	C	T	0	3	Forkhead box D4-like 1	.	.	.	12421752	.	.	.	.	.	.	.	
L	2	120439059	rs3820769	G	A	222	PASS	TMEM177	transmembrane protein 177	exonic	NM_001105198,NM_001105199,NM_030577	.	synonymous SNV	TMEM177:NM_001105198:exon2:c.G630A:p.V210V,TMEM177:NM_001105199:exon2:c.G630A:p.V210V,TMEM177:NM_030577:exon2:c.G630A:p.V210V	ENST00000272521.6,ENST00000409951.1,ENST00000424086.1,ENST00000496203.1,ENST00000401466.1	.	2q14.2	.	.	.	.	.	rs3820769	.	.	0.0182724	0.0129	0.00259585	.	0.0011	0.0159	0.0160795963247	0.0192307425481	.	.	.	.	.	.	.	.	0.559	-0.626	.	.	AC=3;AN=6;BQB=0.990098;DP4=64,46,71,38;DP=263;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.567069;SF=20,21,22;SGB=-0.693079;VDB=0.655061	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:29:255,0,255	0/1:115:58:255,0,255	0/1:42:22:255,0,255	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	2	128177584	rs144300387	T	C	210.25	PASS	PROC	protein C (inactivator of coagulation factors Va and VIIIa)	exonic	NM_000312	.	synonymous SNV	PROC:NM_000312:exon2:c.T66C:p.P22P	ENST00000234071.3,ENST00000409048.1,ENST00000453608.2,ENST00000422777.3	.	2q14.3	.	.	.	.	.	rs144300387	.	.	0.0348837	0.0407	0.0081869	7.7e-05	0.0019	0.0243	0.0206738049923	0.0288461447115	.	.	.	.	.	.	.	.	0.632	1.276	.	2.79	AC=4;AN=8;BQB=0.998265;DP4=18,27,17,24;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.676634;SF=8,9,19,20;SGB=-0.662043;VDB=0.307124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:15:9:250,0,180	0/1:17:7:214,0,255	.	.	.	.	.	.	.	.	.	0/1:24:10:254,0,255	0/1:30:15:255,0,255	.	.	.	.	T	C	0	4	Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)	.	.	.	17982464|15902301|12324563|12324562|12324556|12052963|11496851|11380450|11236773|11140943|10942114|9683579|9553065|8945631|8807339|8639775|8594568|8446940|8400292|8218861|8128429|8093743|7881411|7482420|7479820|6589623|3511471|3463531|3356168|3185623|3010107|3001144|2991887|2991859|2912888|2829367|2602169|2437584|1868249|1678832|1593215|1511989|1511988|1469096|1465430|1348046|1347706|1347608|1301954|1270437	REGULATION_OF_BIOLOGICAL_QUALITY;NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;HEMOSTASIS;CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	.	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_INTEGRIN2_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_EXTRINSIC_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GAMMA_CARBOXYLATION_TRANSPORT_AND_AMINO_TERMINAL_CLEAVAGE_OF_PROTEINS;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_COMMON_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_HEMOSTASIS	
L	2	130832444	rs2599794	C	T	138.41	PASS	POTEF	POTE ankyrin domain family, member F	exonic	NM_001099771	.	synonymous SNV	POTEF:NM_001099771:exon17:c.G2601A:p.E867E	ENST00000357462.5,ENST00000409914.2	.	2q21.1	.	.	.	Score=0.985749;Name=chr2:131958176	.	rs2599794	.	.	0.0215947	0.0198	0.00439297	.	0.0010	0.0131	0.0215947	0.0215947	.	.	.	.	.	.	.	.	0.119	1.966	.	.	AC=32,2;AN=42;BQB=0.283229;DP4=308,110,624,35;DP=1273;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=1.75603e-07;MQSB=0.0913386;RPB=0.0276187;SF=1,2,3,4,6,7,8,9,10,11,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.693146;VDB=0.0987451	GT:DP:DV:PL	.	1/1:44:44:198,132,0,.,.,.	0/1:89:25:104,0,255,.,.,.	1/1:40:40:196,120,0,.,.,.	0/2:91:41:255,.,.,0,.,255	.	0/1:69:24:135,0,255,.,.,.	0/1:89:19:58,0,255,.,.,.	1/1:38:38:213,114,0,.,.,.	1/1:28:28:222,84,0,.,.,.	1/1:31:31:193,93,0,.,.,.	1/1:31:31:193,93,0,.,.,.	.	0/1:69:16:75,0,255,.,.,.	1/1:31:31:194,93,0,.,.,.	1/1:37:37:228,111,0,.,.,.	1/1:34:34:193,102,0,.,.,.	0/1:57:13:86,0,255,.,.,.	.	1/1:31:31:194,93,0,.,.,.	0/1:75:23:117,0,255,.,.,.	1/1:58:58:206,175,0,.,.,.	1/1:11:11:170,33,0,.,.,.	0/1:52:12:82,0,255,.,.,.	2/1:72:72:255,255,255,242,0,70	C	A,T	12	9	.	.	.	.		.	.	.	.	.	.	.	
L	2	130897638	rs182090597	C	T	221	PASS	CCDC74B	coiled-coil domain containing 74B	exonic	NM_001258307,NM_207310	.	missense SNV	CCDC74B:NM_001258307:exon6:c.G710A:p.S237N,CCDC74B:NM_207310:exon6:c.G908A:p.S303N	ENST00000392984.3,ENST00000310463.6,ENST00000409943.3	.	2q21.1	.	.	Score=740;Name=V$MYOGNF1_01	Score=0.968148;Name=chr2:132190777	.	rs182090597	.	.	0.0249169	0.0298	0.0061901	.	0.0021	0.0283	0.0237365949464	0.0264422810096	0.023,D	.	.	0.999958,N	.	.	.	6.6279	-0.348	-1.192	.	.	AC=1;AN=2;BQB=0.999922;DP4=26,6,37,22;DP=115;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=4.22153e-10;MQSB=0.915058;RPB=0.000305998;SF=20;SGB=-0.693147;VDB=0.957624	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:91:59:255,0,222	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	130939115	rs142107599	T	C	222	PASS	SMPD4	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	exonic	NM_001171083,NM_017751,NM_017951	.	synonymous SNV	SMPD4:NM_001171083:exon1:c.A60G:p.L20L,SMPD4:NM_017751:exon1:c.A60G:p.L20L,SMPD4:NM_017951:exon1:c.A60G:p.L20L	ENST00000453750.1,ENST00000351288.6,ENST00000452225.2,ENST00000409031.1,ENST00000339679.7,ENST00000426662.2,ENST00000473720.1,ENST00000443958.2,ENST00000431183.2	CpG: 152	2q21.1	.	.	.	Score=0.968148;Name=chr2:132190777	.	rs142107599	.	.	0.0265781	0.0308	0.00638978	.	0.0036	0.0461	0.0252679915773	0.0264423391827	.	.	.	.	.	.	.	.	-0.737	-2.088	.	.	AC=1;AN=2;BQB=0.971061;DP4=23,9,15,11;DP=82;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.985319;SF=20;SGB=-0.692976;VDB=0.485821	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:26:255,0,255	.	.	.	.	T	C	0	1	Sphingomyelin phosphodiesterase 4, neutral membrane	.	.	.	16517606|10718198	LIPID_CATABOLIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;SPHINGOLIPID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_CATABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;CATABOLIC_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;ENDOPLASMIC_RETICULUM;GOLGI_APPARATUS_PART;INTRACELLULAR_ORGANELLE_PART;TRANS_GOLGI_NETWORK	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	KEGG_SPHINGOLIPID_METABOLISM	.	.	REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
L	2	130951931	rs2261398	T	C	221	PASS	TUBA3E	tubulin, alpha 3e	exonic	NM_207312	.	missense SNV	TUBA3E:NM_207312:exon4:c.A484G:p.S162G	ENST00000312988.7	.	2q21.1	.	.	.	Score=0.968148;Name=chr2:132190777	.	rs2261398	.	.	.	.	.	.	0.0004	0.0033	.	0.00869565	.	0.0,B	0.0,B	0.998492,N	0.000095,N	-2.475,N	-0.45,T	7.7583	0.493	4.896	.	2.71	AC=1;AN=2;BQB=0.2201;DP4=13,3,23,8;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.701596;MQSB=0.745545;RPB=0.701596;SF=20;SGB=-0.69311;VDB=0.522034	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:31:255,0,168	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	KEGG_GAP_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	.	.	.	
L	2	131521925	rs773198095	C	T	222	PASS	AMER3	APC membrane recruitment protein 3	exonic	NM_001105193,NM_001105194,NM_001105195,NM_152698	.	synonymous SNV	AMER3:NM_001105193:exon2:c.C2280T:p.T760T,AMER3:NM_001105194:exon2:c.C2280T:p.T760T,AMER3:NM_001105195:exon2:c.C2280T:p.T760T,AMER3:NM_152698:exon2:c.C2280T:p.T760T	ENST00000423981.1,ENST00000321420.4	.	2q21.1	.	.	Score=736;Name=V$MYOGNF1_01	.	.	rs773198095	.	.	.	.	.	.	0.0001	0.0015	.	.	.	.	.	.	.	.	.	.	-1.190	-1.980	0.977480,10.53	.	AC=1;AN=2;BQB=0.968871;DP4=24,13,15,12;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.11498;SF=20;SGB=-0.693021;VDB=6.63538e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:27:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	132021146	rs780483297	C	T	37.18	PASS	POTEE	POTE ankyrin domain family, member E	exonic	NM_001083538	.	synonymous SNV	POTEE:NM_001083538:exon15:c.C2118T:p.A706A	ENST00000358087.5,ENST00000303908.3,ENST00000404460.1,ENST00000356920.5	.	2q21.1	.	.	.	Score=0.985749;Name=chr2:130818815	.	rs780483297	.	.	.	.	.	.	0.0008	0.0026	.	.	.	.	.	.	.	.	.	.	0.119	-0.193	1.482739,13.22	.	AC=2;AN=4;BQB=0.079247;DP4=17,24,3,14;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.0381333;MQSB=0.559633;RPB=0.650073;SF=5,20;SGB=-0.680642;VDB=0.500538	GT:DP:DV:PL	.	.	.	.	.	0/1:39:12:88,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:5:55,0,235	.	.	.	.	C	T	0	2	POTE ankyrin domain family, member E	.	.	.	17101985|16364570|15276201|12475935	.	.	.	.	.	.	.	
L	2	133075925	rs578108491	G	A	222	PASS	ZNF806	zinc finger protein 806	exonic	NM_001304449	.	synonymous SNV	ZNF806:NM_001304449:exon4:c.G1386A:p.R462R	.	.	2q21.2	.	.	.	Score=0.945282;Name=chr19:44856920	.	rs578108491	.	.	0.0166113	0.0129	0.00259585	.	.	.	.	0.019230784375	.	.	.	.	.	.	.	.	0.769	-0.591	.	.	AC=1;AN=2;BQB=0.320323;DP4=10,4,12,10;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.948712;MQSB=0.738404;RPB=0.123727;SF=20;SGB=-0.692562;VDB=0.154084	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:22:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	2	152321457	rs188032134	A	G	222	PASS	RIF1	replication timing regulatory factor 1	exonic	NM_001177663,NM_001177664,NM_001177665,NM_018151	.	missense SNV	RIF1:NM_001177665:exon29:c.A5423G:p.N1808S,RIF1:NM_001177663:exon30:c.A5423G:p.N1808S,RIF1:NM_001177664:exon30:c.A5423G:p.N1808S,RIF1:NM_018151:exon30:c.A5423G:p.N1808S	ENST00000444746.2,ENST00000428287.2,ENST00000453091.2,ENST00000430328.2,ENST00000243326.5	.	2q23.3	.	.	.	.	.	rs188032134	.	.	0.00332226	0.004	0.00139776	.	0.0005	0.0053	0.00382848235835	0.00332226	0.033,D	0.225,B	0.587,P	0.999996,N	0.727414,N	1.15,L	2.93,T	4.3129	0.695	0.318	.	2.27	AC=2;AN=4;BQB=0.674515;DP4=19,12,21,7;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.813784;SF=4,20;SGB=-0.688148;VDB=0.204288	GT:DP:DV:PL	.	.	.	.	0/1:32:15:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	A	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	2	152350325	rs770656983	C	T	222	PASS	NEB	nebulin	exonic	NM_001164507,NM_001164508,NM_001271208,NM_004543	.	missense SNV	NEB:NM_004543:exon142:c.G19032A:p.M6344I,NEB:NM_001164507:exon175:c.G24636A:p.M8212I,NEB:NM_001164508:exon175:c.G24636A:p.M8212I,NEB:NM_001271208:exon176:c.G24741A:p.M8247I	ENST00000397336.2,ENST00000509223.2,ENST00000409198.1,ENST00000172853.10,ENST00000457745.1,ENST00000397345.3,ENST00000603639.1,ENST00000498015.2,ENST00000427231.2,ENST00000604864.1	.	2q23.3	.	.	Score=765;Name=V$PAX6_01	.	.	rs770656983	.	.	.	.	.	.	0	0	.	.	0.402,T	0.281,B	0.516,P	1,D	0.000002,N	0.755,N	1.05,T	16.9068	1.493	3.031	.	5.05	AC=1;AN=2;BQB=0.831075;DP4=10,1,11,2;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97965;SF=20;SGB=-0.683931;VDB=0.042918	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:13:255,0,244	.	.	.	.	C	T	0	1	Nemaline myopathy 2, autosomal recessive, 256030 (3)	.	.	.	21148390|19346529|19232495|16917880|16157704|15266303|15221447|12207937|10051637|9359044|9284930|8626778|7739042|3397062|2838409|1683831	.	SARCOMERE;CYTOPLASMIC_PART;CONTRACTILE_FIBER;MYOFIBRIL;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;CONTRACTILE_FIBER_PART;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	PM2
H	2	152419216	rs184723737	A	G	118	PASS	NEB	nebulin	exonic	NM_001164507,NM_001164508,NM_001271208,NM_004543	.	missense SNV	NEB:NM_004543:exon92:c.T13661C:p.L4554P,NEB:NM_001164507:exon120:c.T18800C:p.L6267P,NEB:NM_001164508:exon120:c.T18800C:p.L6267P,NEB:NM_001271208:exon120:c.T18800C:p.L6267P	ENST00000409198.1,ENST00000172853.10,ENST00000397345.3,ENST00000603639.1,ENST00000427231.2,ENST00000604864.1	.	2q23.3	.	.	.	.	.	rs184723737	.	.	0.00498339	0.004	0.000998403	.	0.0003	0.0042	0.0114854768606	0.00498339	0.012,D	0.996,D	0.998,D	1,D	0.000102,D	2.25,M	1.33,T	16.3426	2.317	9.291	6.580502,31	5.74	AC=1;AN=2;BQB=0.697005;DP4=6,5,4,1;DP=20;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.628992;SF=20;SGB=-0.590765;VDB=0.173131	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:5:151,0,255	.	.	.	.	A	G	0	1	Nemaline myopathy 2, autosomal recessive, 256030 (3)	.	.	.	21148390|19346529|19232495|16917880|16157704|15266303|15221447|12207937|10051637|9359044|9284930|8626778|7739042|3397062|2838409|1683831	.	SARCOMERE;CYTOPLASMIC_PART;CONTRACTILE_FIBER;MYOFIBRIL;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;CONTRACTILE_FIBER_PART;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	REACTOME_STRIATED_MUSCLE_CONTRACTION;REACTOME_MUSCLE_CONTRACTION	PP3
H	2	153535958	.	T	A	222	PASS	PRPF40A	PRP40 pre-mRNA processing factor 40 homolog A	exonic	NM_017892	.	missense SNV	PRPF40A:NM_017892:exon7:c.A485T:p.E162V	ENST00000410080.1	.	2q23.3	.	.	Score=791;Name=V$GFI1_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.995,D	0.998,D	1,D	0.000000,D	2.25,M	-1.74,D	15.7316	2.191	7.950	6.636170,32	5.4	AC=1;AN=2;BQB=0.98627;DP4=5,11,5,9;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.909135;SF=20;SGB=-0.686358;VDB=0.303442	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:14:255,0,255	.	.	.	.	T	A	0	1	Precursor mRNA-processing factor 40, S. cerevisiae, homolog of, A	.	.	.	12964049|12381297|9700202	.	.	.	KEGG_SPLICEOSOME	.	.	.	PM2,PP3
L	2	160035552	rs62171128	C	T	222	PASS	TANC1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	exonic	NM_001145909,NM_033394	.	synonymous SNV	TANC1:NM_001145909:exon14:c.C2364T:p.D788D,TANC1:NM_033394:exon14:c.C2388T:p.D796D	ENST00000454300.1,ENST00000263635.6	.	2q24.2	.	.	.	.	.	rs62171128	.	.	0.0664452	0.0615	0.0415335	0.0308	0.0269	0.0437	0.0543644845329	0.0685096158654	.	.	.	.	.	.	.	.	-4.688	-1.752	1.248719,12.00	.	AC=6;AN=12;BQB=0.744684;DP4=167,99,162,100;DP=729;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97333;SF=2,3,7,18,20,23;SGB=-0.693097;VDB=0.0600772	GT:DP:DV:PL	.	.	0/1:75:30:255,0,255	0/1:90:49:255,0,255	.	.	.	0/1:84:47:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:79:31:255,0,255	.	0/1:90:46:255,0,255	.	.	0/1:110:59:255,0,255	.	C	T	0	6	.	.	.	.		.	.	.	.	.	.	.	
L	2	160080769	rs77560524	C	T	222	PASS	TANC1	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	exonic	NM_001145909,NM_033394	.	synonymous SNV	TANC1:NM_001145909:exon23:c.C3681T:p.A1227A,TANC1:NM_033394:exon23:c.C3705T:p.A1235A	ENST00000454300.1,ENST00000263635.6	.	2q24.2	.	.	.	.	.	rs77560524	.	.	0.0199336	0.0288	0.00579073	7.9e-05	0.0034	0.0441	0.0367534860643	0.0300480987981	.	.	.	.	.	.	.	.	-1.088	-2.293	2.293010,18.12	.	AC=1;AN=2;BQB=0.887472;DP4=13,1,9,3;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.967472;SF=20;SGB=-0.680642;VDB=0.120816	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,245	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	160310152	rs776616041	G	A	163	PASS	BAZ2B	bromodomain adjacent to zinc finger domain, 2B	exonic	NM_001289975,NM_013450	.	synonymous SNV	BAZ2B:NM_001289975:exon4:c.C306T:p.A102A,BAZ2B:NM_013450:exon4:c.C306T:p.A102A	ENST00000343439.5,ENST00000392783.2,ENST00000355831.2,ENST00000392782.1	.	2q24.2	.	.	.	.	.	rs776616041	.	.	.	.	.	.	3.344e-05	0.0002	.	.	.	.	.	.	.	.	.	.	0.687	1.241	1.480030,13.21	2.37	AC=1;AN=2;BQB=0.247066;DP4=13,1,6,2;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.694935;SF=20;SGB=-0.651104;VDB=0.248205	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:8:197,0,255	.	.	.	.	G	A	0	1	Bromodomain adjacent to zinc finger domain, 2B	.	.	.	10662543	.	.	.	.	.	.	.	
H	2	160599626	rs201822232	T	C	205	PASS	MARCH7	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	exonic	NM_001282805,NM_001282806,NM_001282807,NM_022826	.	missense SNV	MARCH7:NM_001282807:exon2:c.T94C:p.S32P,MARCH7:NM_001282806:exon3:c.T208C:p.S70P,MARCH7:NM_022826:exon3:c.T208C:p.S70P,MARCH7:NM_001282805:exon5:c.T208C:p.S70P	ENST00000539065.1,ENST00000409175.1,ENST00000259050.4,ENST00000473749.1,ENST00000409591.1	.	2q24.2	.	.	.	.	.	rs201822232	.	.	0.00166113	0.002	0.000399361	.	0.0003	0.0045	0.00166113	0.00240384754808	0.0,D	0.996,D	0.999,D	0.996496,D	0.000106,D	2.125,M	0.24,T	14.2554	2.107	4.219	6.377553,29.5	5.54	AC=1;AN=2;BQB=0.993528;DP4=6,5,7,2;DP=27;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885207;SF=20;SGB=-0.662043;VDB=0.23453	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:9:238,0,255	.	.	.	.	T	C	0	1	Membrane-associated RING-CH finger protein 7	.	.	.	18305173|14722266	.	.	.	.	.	.	.	PP3
L	2	161141307	rs181086244	T	C	214	PASS	RBMS1	RNA binding motif, single stranded interacting protein 1	exonic	NM_002897,NM_016836	.	synonymous SNV	RBMS1:NM_002897:exon9:c.A870G:p.A290A,RBMS1:NM_016836:exon9:c.A879G:p.A293A	ENST00000409972.1,ENST00000348849.3,ENST00000474820.1,ENST00000409289.2,ENST00000392753.3,ENST00000409075.1	.	2q24.2	.	.	.	.	.	rs181086244	.	.	0.00166113	0.002	0.000399361	.	8.241e-05	0.0009	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.161	0.211	.	.	AC=1;AN=2;BQB=0.63114;DP4=5,7,3,6;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.502832;SF=20;SGB=-0.662043;VDB=0.21405	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:9:247,0,255	.	.	.	.	T	C	0	1	.	.	.	.		DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;DNA_REPLICATION	.	SINGLE_STRANDED_DNA_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	.	.	.	.	
L	2	163134157	rs118172671	C	T	222	PASS	IFIH1	interferon induced with helicase C domain 1	exonic	NM_022168	.	synonymous SNV	IFIH1:NM_022168:exon10:c.G1812A:p.L604L	ENST00000263642.2	.	2q24.2	.	.	Score=833;Name=V$TST1_01	.	.	rs118172671	.	.	0.0116279	0.0069	0.00139776	.	0.0004	0.0056	0.00689126833078	0.0108173020433	.	.	.	.	.	.	.	.	1.394	0.782	1.502293,13.33	4.79	AC=2;AN=4;BQB=0.850149;DP4=24,25,15,21;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.880255;SF=5,20;SGB=-0.689466;VDB=0.107267	GT:DP:DV:PL	.	.	.	.	.	0/1:42:16:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:20:255,0,255	.	.	.	.	C	T	0	2	Aicardi-Goutieres syndrome 7, 615846 (3); Singleton-Merten syndrome 1, 182250 (3)	.	.	.	26275108|25620204|25243380|24995871|24686847|24530055|23328395|21705624|21070929|20694011|19825843|16625202|11805321	.	.	.	KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY	.	.	REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	
H	2	165561600	rs138185294	C	T	222	PASS	COBLL1	cordon-bleu WH2 repeat protein-like 1	exonic	NM_001278458,NM_001278460,NM_001278461,NM_014900	.	missense SNV	COBLL1:NM_001278461:exon7:c.G1012A:p.G338R,COBLL1:NM_014900:exon7:c.G1012A:p.G338R,COBLL1:NM_001278460:exon8:c.G1150A:p.G384R,COBLL1:NM_001278458:exon10:c.G1210A:p.G404R	ENST00000342193.4,ENST00000194871.6,ENST00000491126.2,ENST00000375458.2,ENST00000409184.3,ENST00000392717.2	.	2q24.3	.	.	.	.	.	rs138185294	.	.	.	.	.	7.7e-05	.	.	.	.	0.021,D	0.938,D	0.994,D	1,N	0.159242,N	1.7,L	.	7.2502	0.316	1.639	4.527840,24.3	2.52	AC=1;AN=2;BQB=0.63114;DP4=5,4,5,7;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.913101;SF=20;SGB=-0.680642;VDB=0.888914	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:12:255,0,253	.	.	.	.	C	T	0	1	COBL-like protein 1	.	.	.	14512015|10231032	.	.	.	.	.	.	.	PM2
H	2	167279762	rs117306770	T	C	77	PASS	SCN7A	sodium channel, voltage gated, type VII alpha subunit	splicing	NM_002976	NM_002976:exon18:c.3027+7A>G	.	.	ENST00000409855.1	.	2q24.3	.	.	.	.	.	rs117306770	.	.	0.0315615	0.0278	0.00559105	8.3e-05	0.0018	0.0247	0.0222051998469	0.0300481165865	.	.	.	.	.	.	.	.	2.006	3.203	1.504229,13.34	4.51	AC=1;AN=2;BQB=0.926163;DP4=10,1,3,1;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997872;SF=20;SGB=-0.556411;VDB=0.366751	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:4:111,0,229	.	.	.	.	T	C	0	1	Sodium channel, voltage-gated, type VII, alpha polypeptide	.	.	.	11992118|11027237|8188276|1846440	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;TRANSPORT;SODIUM_ION_TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_SODIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	
L	2	168107124	rs534488626	T	C	216	PASS	XIRP2	xin actin binding repeat containing 2	exonic	NM_001199144,NM_152381	.	synonymous SNV	XIRP2:NM_001199144:exon7:c.T8556C:p.I2852I,XIRP2:NM_152381:exon9:c.T9222C:p.I3074I	ENST00000295237.9,ENST00000409756.2,ENST00000409605.1,ENST00000420519.1,ENST00000409728.1,ENST00000409273.1,ENST00000409195.1,ENST00000409043.1	.	2q24.3	.	.	.	.	.	rs534488626	.	.	0	0.001	0.000199681	.	4.169e-05	0.0006	.	.	.	.	.	.	.	.	.	.	-0.350	-0.044	.	.	AC=1;AN=2;BQB=0.976558;DP4=18,7,14,3;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.893717;SF=20;SGB=-0.690438;VDB=0.915175	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:17:249,0,255	.	.	.	.	T	C	0	1	Cardiomyopathy-associated protein 3	.	.	.	17046827|15454575	.	.	.	.	.	.	.	
H	2	170537654	rs768289593	C	G	221	PASS	CCDC173	coiled-coil domain containing 173	exonic	NM_001085447	.	missense SNV	CCDC173:NM_001085447:exon2:c.G157C:p.D53H	ENST00000447353.1	.	2q31.1	.	.	.	.	.	rs768289593	.	.	.	.	.	.	4.145e-05	0.0006	.	.	0.101,T	0.319,B	0.468,P	1,N	0.816245,U	2.075,M	-2.42,D	19.4265	-1.136	-0.012	1.118854,11.32	.	AC=1;AN=2;BQB=0.884706;DP4=7,2,12,8;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.392804;SF=20;SGB=-0.692067;VDB=0.88451	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:20:255,0,214	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	172336601	rs3731980	T	C	168	PASS	DCAF17	DDB1 and CUL4 associated factor 17	exonic	NM_001164821,NM_025000	.	synonymous SNV	DCAF17:NM_001164821:exon11:c.T1119C:p.A373A,DCAF17:NM_025000:exon13:c.T1320C:p.A440A	ENST00000539783.1,ENST00000468592.1,ENST00000375255.3	.	2q31.1	.	.	.	.	.	rs3731980	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116868.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0415282	0.0437	0.0091853	0.0002	0.0027	0.0345	0.0375191194487	0.0396634307692	.	.	.	1,D	.	.	.	4.3644	0.160	-0.010	.	2.14	AC=3;AN=6;BQB=0.715049;DP4=21,4,24,3;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.358017;SF=7,20,23;SGB=-0.686358;VDB=0.402361	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:22:14:255,0,217	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:8:203,0,255	.	.	0/1:12:5:145,0,226	.	T	C	0	3	Woodhouse-Sakati syndrome, 241080 (3)	.	.	.	21044051|20507343|19026396|18175354|18049083|17710875|6876115	.	.	.	.	.	.	.	
H	2	177193087	rs78943740	G	A	178.5	PASS	MTX2	metaxin 2	exonic	NM_006554	.	missense SNV	MTX2:NM_006554:exon6:c.G352A:p.V118I	ENST00000249442.6,ENST00000392529.2,ENST00000443241.1	.	2q31.1	.	.	Score=823;Name=V$FOXO3_01	.	.	rs78943740	.	.	0.0265781	0.0298	0.00778754	0.0005	0.0078	0.0388	0.0329249888208	0.0312500302885	0.088,T	0.685,P	0.985,D	1,D	0.000000,D	1.975,M	0.93,T	19.5007	2.673	9.813	3.539300,23.1	5.38	AC=4;AN=8;BQB=0.6821;DP4=29,9,23,5;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.935451;SF=2,16,17,20;SGB=-0.636426;VDB=0.766482	GT:DP:DV:PL	.	.	0/1:12:7:238,0,162	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:7:191,0,255	0/1:14:6:192,0,210	.	.	0/1:19:8:226,0,255	.	.	.	.	G	A	0	4	Metaxin 2	.	.	.	20648051|17624330|10381257	ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MITOCHONDRION_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;CELLULAR_LOCALIZATION;MITOCHONDRIAL_TRANSPORT	ORGANELLE_PART;MITOCHONDRIAL_OUTER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ORGANELLE_MEMBRANE;OUTER_MEMBRANE;ENVELOPE;ORGANELLE_OUTER_MEMBRANE;ORGANELLE_ENVELOPE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE	.	.	.	.	REACTOME_MITOCHONDRIAL_PROTEIN_IMPORT;REACTOME_METABOLISM_OF_PROTEINS	
L	2	179583949	rs563766812	C	T	222	PASS	TTN	titin	exonic	NM_001256850,NM_001267550,NM_133378	.	synonymous SNV	TTN:NM_133378:exon80:c.G20436A:p.T6812T,TTN:NM_001256850:exon81:c.G23217A:p.T7739T,TTN:NM_001267550:exon83:c.G24168A:p.T8056T	ENST00000342175.6,ENST00000589042.1,ENST00000342992.6,ENST00000359218.5,ENST00000591111.1,ENST00000460472.2,ENST00000585451.1	.	2q31.2	.	.	Score=885;Name=V$NF1_Q6	.	.	rs563766812	.	.	0.00166113	0.001	0.000199681	.	1.663e-05	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-2.484	-7.528	2.874930,21.7	.	AC=1;AN=2;BQB=0.146297;DP4=24,9,14,7;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992316;SF=20;SGB=-0.692352;VDB=0.798959	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:21:255,0,255	.	.	.	.	C	T	0	1	Cardiomyopathy, familial hypertrophic, 9, 613765 (3); Cardiomyopathy, dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3); Muscular dystrophy, limb-girdle, type 2J, 608807 (3); Myopathy, proximal, with early respiratory muscle involvement, 603689 (3); Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)	.	.	.	23396983|22335739|17444505|17360664|16407954|16115818|15802564|15138196|14572168|12891679|12660787|12482578|12198551|12145747|11846417|11829483|11788825|11788824|11717165|10573426|10462489|10053013|10051295|9359044|8307566|7569978|2129545	MUSCLE_DEVELOPMENT;PROTEIN_AUTOPROCESSING;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;DEVELOPMENTAL_MATURATION;STRIATED_MUSCLE_DEVELOPMENT;M_PHASE;MYOBLAST_DIFFERENTIATION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;MUSCLE_CELL_DIFFERENTIATION;ACTIN_FILAMENT_BASED_PROCESS;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;STRIATED_MUSCLE_CONTRACTION_GO_0006941;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;SKELETAL_MUSCLE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;MITOSIS;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ORGAN_DEVELOPMENT;CELL_MATURATION;SYSTEM_PROCESS;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;SARCOMERE;CYTOPLASMIC_PART;CONTRACTILE_FIBER;MYOFIBRIL;NUCLEAR_CHROMOSOME;NUCLEAR_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;CONDENSED_NUCLEAR_CHROMOSOME;CONTRACTILE_FIBER_PART;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CONDENSED_CHROMOSOME;CHROMOSOME	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;STRUCTURAL_CONSTITUENT_OF_MUSCLE;PURINE_RIBONUCLEOTIDE_BINDING;CALMODULIN_BINDING;ATP_BINDING	KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_DILATED_CARDIOMYOPATHY	.	.	.	
L	2	186654662	rs765620556	A	C	214	PASS	FSIP2	fibrous sheath interacting protein 2	exonic	NM_173651	.	synonymous SNV	FSIP2:NM_173651:exon16:c.A3066C:p.V1022V	ENST00000343098.5,ENST00000424728.1,ENST00000429929.1,ENST00000436557.1	.	2q32.1	.	.	.	.	.	rs765620556	.	.	.	.	.	.	7.112e-05	0.0052	.	.	.	.	.	.	.	.	.	.	-0.584	-0.260	.	.	AC=3;AN=4;BQB=0.782687;DP4=13,7,27,12;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.975862;SF=16,20;SGB=-0.683931;VDB=0.638537	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:13:233,0,255	.	.	.	1/1:26:26:255,78,0	.	.	.	.	A	C	1	1	Fibrous sheath-interacting protein 2	.	.	.	12606363	.	.	.	.	.	.	.	
H	2	186668785	rs572646479	C	G	224	PASS	FSIP2	fibrous sheath interacting protein 2	exonic	NM_173651	.	missense SNV	FSIP2:NM_173651:exon17:c.C15019G:p.L5007V	ENST00000343098.5,ENST00000424728.1	.	2q32.1	.	.	.	.	.	rs572646479	.	.	0.00664452	0.005	0.000998403	.	0.0001	0.0103	0.00284091	0.00664452	0.041,D	.	.	1,N	.	1.905,L	0.78,T	5.1631	-0.268	-2.060	1.393250,12.75	.	AC=4;AN=6;BQB=0.573579;DP4=20,17,63,21;DP=169;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.839089;SF=11,16,20;SGB=-0.692914;VDB=0.389968	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:44:25:255,0,255	.	.	.	.	0/1:39:21:255,0,255	.	.	.	1/1:38:38:255,114,0	.	.	.	.	C	G	1	2	Fibrous sheath-interacting protein 2	.	.	.	12606363	.	.	.	.	.	.	.	
L	2	201480792	rs17636860	C	T	216	PASS	AOX1	aldehyde oxidase 1	splicing	NM_001159	NM_001159:exon16:c.1704+6C>T	.	.	ENST00000374700.2,ENST00000485106.1	.	2q33.1	.	.	.	.	.	rs17636860	.	.	0.0398671	0.0407	0.0257588	0.0011	0.0155	0.0418	0.0313935490046	0.0312499924279	.	.	.	.	.	.	.	.	-0.343	-0.088	.	.	AC=4;AN=8;BQB=0.952711;DP4=54,12,54,11;DP=176;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.750377;SF=8,10,17,20;SGB=-0.688148;VDB=0.843255	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:41:15:255,0,255	.	0/1:35:19:255,0,255	.	.	.	.	.	.	0/1:30:17:255,0,255	.	.	0/1:25:14:231,0,251	.	.	.	.	C	T	0	4	Aldehyde oxidase-1	.	.	.	8248161|7570184|7556219	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORS	KEGG_VALINE_LEUCINE_AND_ISOLEUCINE_DEGRADATION;KEGG_TYROSINE_METABOLISM;KEGG_TRYPTOPHAN_METABOLISM;KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	.	
H	2	201722431	rs2301982	A	G	141.5	PASS	CLK1	CDC-like kinase 1	splicing	NM_001162407,NM_004071	NM_001162407:exon7:c.958+10T>C;NM_004071:exon7:c.832+10T>C	.	.	ENST00000321356.4,ENST00000434813.2,ENST00000409769.2	.	2q33.1	.	.	.	.	.	rs2301982	.	.	0.0166113	0.0179	0.00399361	0.0002	0.0022	0.0262	0.0183767444104	0.0180288408654	.	.	.	.	.	.	.	.	0.364	1.482	1.369699,12.63	2.76	AC=2;AN=4;BQB=0.333321;DP4=8,7,10,1;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.952347;MQSB=1;RPB=0.952347;SF=17,20;SGB=-0.590765;VDB=0.374631	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:5:179,0,156	.	.	0/1:16:6:170,0,255	.	.	.	.	A	G	0	2	CDC-like kinase 1	.	.	.	20081832|9856501|8798720|7990150|1986248|1825055|1704889	CELL_PROLIFERATION_GO_0008283	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
L	2	202342486	rs182055817	G	A	222	PASS	STRADB	STE20-related kinase adaptor beta	exonic	NM_001206864,NM_018571	.	synonymous SNV	STRADB:NM_001206864:exon8:c.G693A:p.P231P,STRADB:NM_018571:exon8:c.G693A:p.P231P	ENST00000392249.2,ENST00000194530.3	.	2q33.1	.	.	Score=803;Name=V$HTF_01	.	.	rs182055817	.	.	0.00830565	0.0069	0.00139776	.	0.0004	0.0045	0.00612557330781	0.0084134625	.	.	.	.	.	.	.	.	1.302	0.959	0.900191,10.08	2.49	AC=2;AN=4;BQB=0.399156;DP4=38,18,32,13;DP=134;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.548469;MQSB=0.978098;RPB=0.534333;SF=14,20;SGB=-0.692067;VDB=0.0435222	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:20:255,0,255	.	.	.	.	.	0/1:57:25:255,0,255	.	.	.	.	G	A	0	2	STE20-related kinase adaptor beta	.	.	.	12048196|11161814	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_EXPORT_FROM_NUCLEUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;NUCLEAR_EXPORT;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;BIOPOLYMER_MODIFICATION;TRANSPORT;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_TRANSPORT;PHOSPHORYLATION;PROTEIN_LOCALIZATION;ACTIVATION_OF_PROTEIN_KINASE_ACTIVITY;NUCLEOCYTOPLASMIC_TRANSPORT	CYTOPLASM;NUCLEUS	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	PID_LKB1_PATHWAY	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_PI3K_CASCADE	
M	2	202989972	rs75008729	G	A	207	PASS	KIAA2012	KIAA2012	exonic	NM_001277372	.	missense SNV	KIAA2012:NM_001277372:exon12:c.G1903A:p.E635K	ENST00000541917.1,ENST00000409515.3,ENST00000295844.3	.	2q33.1	.	.	.	.	.	rs75008729	.	.	0.0299003	0.0347	0.00698882	.	0.0011	0.0309	0.0383523	0.0252403673077	0.749,T	0.006,B	0.002,B	1,N	.	.	.	8.0856	-0.288	-0.093	.	.	AC=1;AN=2;BQB=1;DP4=8,6,9,3;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.727755;SF=20;SGB=-0.680642;VDB=0.882403	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:240,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	2	207175259	rs566988268	A	G	222	PASS	ZDBF2	zinc finger, DBF-type containing 2	exonic	NM_001285549,NM_020923	.	missense SNV	ZDBF2:NM_020923:exon5:c.A6007G:p.M2003V,ZDBF2:NM_001285549:exon7:c.A6001G:p.M2001V	ENST00000374423.3	.	2q33.3	.	.	.	.	.	rs566988268	.	.	0.00332226	0.002	0.000399361	.	3.458e-05	0.0005	0.00332226	0.00332226	1.0,T	0.0,B	0.0,B	1,N	.	0.345,N	1.18,T	10.3905	-0.483	-0.686	.	.	AC=1;AN=2;BQB=0.806072;DP4=13,10,11,6;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.955723;SF=20;SGB=-0.690438;VDB=0.666532	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:17:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	208994297	rs184571576	G	A	222	PASS	CRYGC	crystallin, gamma C	exonic	NM_020989	.	synonymous SNV	CRYGC:NM_020989:exon2:c.C120T:p.S40S	ENST00000282141.3	.	2q33.3	.	.	.	.	.	rs184571576	.	.	0.0166113	0.0228	0.00499201	.	0.0010	0.0127	0.00995405822358	0.0166113	.	.	.	.	.	.	.	.	-0.015	-0.620	.	.	AC=2;AN=4;BQB=0.96209;DP4=35,8,25,9;DP=107;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.912238;SF=1,20;SGB=-0.691153;VDB=0.207235	GT:DP:DV:PL	.	0/1:45:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:16:255,0,255	.	.	.	.	G	A	0	2	Cataract 2, multiple types, 604307 (3)	.	.	.	22876111|22052681|19204787|17679936|15302206|12601044|12011157|11700327|10914683|10521291|8190472|8004095|4065573|3025877|3011643	.	.	.	.	.	.	.	
L	2	209027988	rs200475169	G	A	222	PASS	CRYGA	crystallin, gamma A	exonic	NM_014617	.	synonymous SNV	CRYGA:NM_014617:exon2:c.C192T:p.P64P	ENST00000304502.4	.	2q34	.	.	.	.	.	rs200475169	.	.	0.00830565	0.005	0.000998403	.	0.0002	0.0029	0.00459417924962	0.00830565	.	.	.	.	.	.	.	.	-1.474	-1.621	1.592774,13.81	.	AC=1;AN=2;BQB=0.966484;DP4=21,9,17,7;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.705329;SF=20;SGB=-0.692831;VDB=0.673544	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:24:255,0,255	.	.	.	.	G	A	0	1	Crystallin, gamma A	.	.	.	10521291|9782080|9497271|8004095|6548413|6294661|3589669|3476929|3248380|3242494|3011643|2994242|2991114|1358796|1303247	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	.	.	.	.	.	
H	2	210887734	rs117674897	T	C	221	PASS	KANSL1L	KAT8 regulatory NSL complex subunit 1-like	exonic	NM_001307976,NM_152519	.	missense SNV	KANSL1L:NM_001307976:exon14:c.A2777G:p.D926G,KANSL1L:NM_152519:exon15:c.A2903G:p.D968G	ENST00000418791.1,ENST00000281772.9	.	2q34	.	.	.	.	.	rs117674897	.	.	0.0182724	0.0179	0.00359425	.	0.0015	0.0203	0.0222052049005	0.0192307425481	0.077,T	0.677,P	0.882,P	1,N	0.081458,N	2.045,M	.	3.9168	0.416	1.651	.	2.03	AC=1;AN=2;BQB=0.999286;DP4=9,1,21,3;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.318907;SF=20;SGB=-0.692831;VDB=0.101045	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:24:255,0,200	.	.	.	.	T	C	0	1	KAT8 regulatory NSL complex subunit 1-like	.	.	.	16227571	.	.	.	.	.	.	.	
H	2	212285257	rs769751950	T	A	222	PASS	ERBB4	erb-b2 receptor tyrosine kinase 4	exonic	NM_001042599,NM_005235	.	missense SNV	ERBB4:NM_001042599:exon25:c.A3044T:p.D1015V,ERBB4:NM_005235:exon25:c.A3044T:p.D1015V	ENST00000436443.1,ENST00000342788.4,ENST00000402597.1	.	2q34	.	.	Score=851;Name=V$EVI1_05	.	.	rs769751950	.	.	.	.	.	.	8.317e-06	0	.	.	0.001,D	0.711,P	0.98,D	1,D	0.000000,D	2.985,M	-0.99,T	16.2792	2.243	8.012	6.826310,33	5.88	AC=1;AN=2;BQB=0.825504;DP4=6,2,9,2;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999148;SF=20;SGB=-0.676189;VDB=0.843545	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:11:255,0,253	.	.	.	.	T	A	0	1	Amyotrophic lateral sclerosis 19, 615515 (3)	.	.	.	24119685|21441918|20393464|19718025|17521572|17521571|17018285|16767099|16615895|16402353|15976301|15583696|15543145|15473965|14555954|11679632|10839362|10725395|10655590|9771476|7700649|7477376	SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS	PID_ERBB4_PATHWAY;PID_ERBB_NETWORK_PATHWAY	BIOCARTA_HER2_PATHWAY	REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_GRB2_EVENTS_IN_ERBB2_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_SHC1_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_NUCLEAR_SIGNALING_BY_ERBB4	PM2,PP3
L	2	217498531	.	C	T	222	PASS	IGFBP2	insulin-like growth factor binding protein 2, 36kDa	exonic	NM_000597	.	synonymous SNV	IGFBP2:NM_000597:exon1:c.C285T:p.G95G	ENST00000233809.4	CpG: 104	2q35	.	.	Score=867;Name=V$SPZ1_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.294	-0.100	3.223869,22.7	4.44	AC=1;AN=2;BQB=0.85994;DP4=6,1,9,3;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.957193;SF=20;SGB=-0.680642;VDB=0.0136068	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:12:255,0,180	.	.	.	.	C	T	0	1	Insulin-like growth factor-binding protein-2, 36kD	.	.	.	7511611|2478445|2464130|1712312|1710112	.	.	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS	PM2
L	2	219137452	rs148049021	G	A	222	PASS	PNKD	paroxysmal nonkinesigenic dyskinesia	exonic	NM_001077399	.	synonymous SNV	PNKD:NM_001077399:exon3:c.G396A:p.P132P	ENST00000248451.3,ENST00000273077.4,ENST00000472650.1	.	2q35	.	.	.	.	.	rs148049021	.	.	0.0299003	0.0248	0.00559105	0.0017	0.0025	0.0277	0.025267969219	0.0276441990385	.	.	.	.	.	.	.	.	-1.776	-1.452	.	.	AC=2;AN=4;BQB=0.292305;DP4=35,10,26,10;DP=115;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.133299;SF=13,20;SGB=-0.692067;VDB=0.103263	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:20:255,0,255	.	.	.	.	.	.	0/1:33:16:255,0,255	.	.	.	.	G	A	0	2	Paroxysmal nonkinesigenic dyskinesia, 118800 (3)	.	.	.	21487022|19124534|16216955|15824259|15496428|15262732|10574461|9490305|8659518	.	.	.	.	.	.	.	
H	2	220089381	rs183286778	C	T	222	PASS	ATG9A	autophagy related 9A	exonic	NM_001077198,NM_024085	.	missense SNV	ATG9A:NM_024085:exon7:c.G712A:p.G238R,ATG9A:NM_001077198:exon8:c.G712A:p.G238R	ENST00000409422.1,ENST00000396761.2,ENST00000361242.4,ENST00000409618.1	.	2q35	.	.	.	.	.	rs183286778	.	.	0	.	0.000399361	8e-05	0.0001	0.0005	.	.	0.0,D	0.771,P	0.992,D	1,D	0.000051,D	1.595,L	1.39,T	18.146	2.366	7.782	6.337946,29.3	5.11	AC=1;AN=2;BQB=0.79139;DP4=25,13,33,9;DP=98;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.541288;SF=20;SGB=-0.693146;VDB=0.37731	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:42:255,0,255	.	.	.	.	C	T	0	1	Autophagy 9, S. cerevisiae, homolog of, A	.	.	.	15755735	ORGANELLE_ORGANIZATION_AND_BIOGENESIS	.	.	.	.	.	.	
H	2	220197281	.	C	G	222	PASS	RESP18	regulated endocrine-specific protein 18	exonic	NM_001007089	.	missense SNV	RESP18:NM_001007089:exon2:c.G197C:p.S66T	ENST00000392083.1,ENST00000333527.5	.	2q35	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.957,D	0.998,D	1,D	0.014549,N	1.585,L	.	11.5432	2.178	0.652	4.361117,24.1	3.88	AC=1;AN=2;BQB=0.838545;DP4=8,2,10,2;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.65306;SF=20;SGB=-0.680642;VDB=0.246406	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:255,0,255	.	.	.	.	C	G	0	1	Regulated endocrine-specific protein 18	.	.	.	17951542	.	.	.	.	.	.	.	PM2
H	2	220424192	rs139713392	C	T	222	PASS	OBSL1	obscurin-like 1	exonic	NM_001173431,NM_015311	.	missense SNV	OBSL1:NM_001173431:exon9:c.G2981A:p.R994H,OBSL1:NM_015311:exon9:c.G2981A:p.R994H	ENST00000373876.1,ENST00000404537.1,ENST00000603926.1,ENST00000597192.1,ENST00000265318.4	.	2q35	.	.	Score=825;Name=V$XBP1_01	.	.	rs139713392	.	.	0.0265781	0.0258	0.00519169	0.0002	0.0012	0.0151	0.0191424369066	0.0228365639423	0.043,D	0.009,B	0.029,B	0.999372,N	.	1.24,L	0.38,T	7.4075	1.022	0.507	4.446215,24.2	2.45	AC=1;AN=2;BQB=0.90602;DP4=15,15,15,21;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.774598;SF=20;SGB=-0.693139;VDB=0.0321945	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:36:255,0,255	.	.	.	.	C	T	0	1	3-M syndrome 2, 612921 (3)	.	.	.	19481195|17289344|9734811	.	.	.	.	.	.	.	
L	2	220494008	rs148716690	C	T	222	PASS	SLC4A3	solute carrier family 4 (anion exchanger), member 3	exonic	NM_005070,NM_201574	.	synonymous SNV	SLC4A3:NM_005070:exon4:c.C360T:p.S120S,SLC4A3:NM_201574:exon4:c.C360T:p.S120S	ENST00000317151.3,ENST00000273063.6,ENST00000358055.3,ENST00000373762.3,ENST00000373760.2,ENST00000497589.1	.	2q35	.	.	.	.	.	rs148716690	.	.	0.00664452	0.005	0.00119808	0.0002	0.0008	0.0017	0.00382848226646	0.00664452	.	.	.	.	.	.	.	.	-4.627	-7.577	.	.	AC=1;AN=2;BQB=0.956586;DP4=15,8,18,6;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.953505;SF=20;SGB=-0.692831;VDB=0.883867	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:24:255,0,255	.	.	.	.	C	T	0	1	Anion exchanger 3, neuronal	.	.	.	8001971|7894173|2686841	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANTIPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	
L	2	227917112	rs79470996	G	A	109	PASS	COL4A4	collagen, type IV, alpha 4	exonic	NM_000092	.	synonymous SNV	COL4A4:NM_000092:exon32:c.C2877T:p.P959P	ENST00000329662.7,ENST00000396625.3	.	2q36.3	.	.	.	.	.	rs79470996	.	.	0.0116279	0.0119	0.00239617	.	0.0008	0.0106	0.0114854289433	0.00961538064904	.	.	.	.	.	.	.	.	-1.885	-0.472	.	.	AC=1;AN=2;BQB=0.838008;DP4=5,2,3,2;DP=15;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;MQSB=1;RPB=0.584657;SF=20;SGB=-0.590765;VDB=0.178985	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:5:142,0,210	.	.	.	.	G	A	0	1	Alport syndrome, autosomal recessive, 203780 (3); Hematuria, familial benign (3)	.	.	.	25575550|11961012|9792860|9537506|9195222|8787673|8662866|8083201|7987396|7523402|3417661|2438283|2318822|1639407|1429714	REGULATION_OF_BIOLOGICAL_QUALITY;MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;REGULATION_OF_SYNAPSE_STRUCTURE_AND_ACTIVITY;STRIATED_MUSCLE_DEVELOPMENT;REGULATION_OF_GROWTH;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;GROWTH;SYNAPTIC_TRANSMISSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;SKELETAL_MUSCLE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;DEVELOPMENTAL_GROWTH;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ORGAN_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	
H	2	228560645	rs117864472	T	C	206	PASS	SLC19A3	solute carrier family 19 (thiamine transporter), member 3	exonic	NM_025243	.	missense SNV	SLC19A3:NM_025243:exon4:c.A1132G:p.I378V	ENST00000541617.1,ENST00000258403.3,ENST00000409287.1	.	2q36.3	.	.	.	.	.	rs117864472	.	.	0.0282392	0.0188	0.00379393	0.0002	0.0020	0.0259	0.0306278946401	0.0288461567308	0.411,T	0.061,B	0.063,B	0.999371,D	0.050485,N	1.41,L	-2.05,D	3.8726	-1.180	-1.289	.	.	AC=2;AN=4;BQB=0.95433;DP4=22,6,16,3;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982453;SF=16,20;SGB=-0.676189;VDB=0.791806	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:11:255,0,255	.	.	.	0/1:19:8:223,0,255	.	.	.	.	T	C	0	2	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)	.	.	.	23469184|23423671|21868632|20065143|19879271|19387023|16790503|15871139|11731220|11136550	.	.	.	.	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	
L	2	230923862	rs371613985	G	A	198	PASS	SLC16A14	solute carrier family 16, member 14	exonic	NM_152527	.	synonymous SNV	SLC16A14:NM_152527:exon2:c.C207T:p.R69R	ENST00000295190.4	.	2q36.3	.	.	.	.	.	rs371613985	.	.	0	0.001	0.000199681	7.7e-05	0.0002	0.0014	0.00142045	.	.	.	.	.	.	.	.	.	-2.670	-2.548	.	.	AC=1;AN=2;BQB=0.778801;DP4=4,2,5,4;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.431591;SF=20;SGB=-0.662043;VDB=0.121227	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:9:231,0,184	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	2	231861071	rs61738380	T	C	134.26	PASS	SPATA3	spermatogenesis associated 3	exonic	NM_139073	.	synonymous SNV	SPATA3:NM_139073:exon1:c.T123C:p.S41S	ENST00000433428.2,ENST00000452881.1,ENST00000424440.1,ENST00000455816.1	.	2q37.1	.	.	.	.	.	rs61738380	.	.	.	.	.	.	0.0002	0	0.0539773	0.0130435	.	.	.	.	.	.	.	.	-0.064	-0.346	.	.	AC=19;AN=38;BQB=0.0246864;DP4=1149,425,383,126;DP=2808;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.996817;MQSB=0.996262;RPB=1.6834e-06;SF=1,3,4,6,7,8,9,10,11,12,13,14,17,18,20,21,22,23,24;SGB=-0.686358;VDB=6.15738e-07	GT:DP:DV:PL	.	0/1:88:14:71,0,255	.	0/1:108:32:255,0,255	0/1:111:24:137,0,255	.	0/1:104:28:198,0,255	0/1:114:31:255,0,255	0/1:87:26:212,0,255	0/1:78:14:92,0,255	0/1:97:29:195,0,255	0/1:97:26:225,0,255	0/1:90:31:205,0,255	0/1:157:50:255,0,255	0/1:122:33:232,0,255	.	.	0/1:96:25:202,0,255	0/1:80:12:68,0,255	.	0/1:126:37:210,0,255	0/1:169:25:58,0,255	0/1:51:9:115,0,255	0/1:158:35:164,0,255	0/1:150:28:61,0,255	T	C	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	2	232323800	rs147885328	G	A	177	PASS	NCL	nucleolin	exonic	NM_005381	.	synonymous SNV	NCL:NM_005381:exon7:c.C1077T:p.D359D	ENST00000322723.4	.	2q37.1	.	.	.	.	.	rs147885328	.	.	0.0332226	0.0248	0.00539137	0.0003	0.0014	0.0178	0.0222052156202	0.0288461588942	.	.	.	.	.	.	.	.	1.244	-0.057	1.201538,11.76	2.48	AC=2;AN=4;BQB=0.795196;DP4=13,7,13,5;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998108;SF=11,20;SGB=-0.680642;VDB=0.477704	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:255,0,242	.	.	.	.	.	.	.	.	0/1:15:6:165,0,255	.	.	.	.	G	A	0	2	Nucleolin	.	.	.	21859890|21841784|18292223|17615292|16582966|16582619|16135517|12391018|11736641|10660576|10524220|8065311|2737305|2394707	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;ANGIOGENESIS;VASCULATURE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	ORGANELLE_PART;CYTOPLASMIC_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;CELL_CORTEX;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	RNA_BINDING;PROTEIN_C_TERMINUS_BINDING	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_AURORA_B_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_TELOMERASEPATHWAY;PID_UPA_UPAR_PATHWAY	BIOCARTA_SARS_PATHWAY	.	
L	2	234638270	rs563451648	G	A	222	PASS	UGT1A3	UDP glucuronosyltransferase 1 family, polypeptide A3	exonic	NM_019093	.	synonymous SNV	UGT1A3:NM_019093:exon1:c.G498A:p.S166S	ENST00000373450.4,ENST00000608381.1,ENST00000609767.1,ENST00000354728.4,ENST00000373409.3,ENST00000373414.3,ENST00000482026.1,ENST00000373426.3,ENST00000480628.1,ENST00000373445.1,ENST00000609637.1,ENST00000305139.6,ENST00000344644.5,ENST00000406651.1,ENST00000373424.1	.	2q37.1	.	.	.	Score=0.922606;Name=chr2:234655487	.	rs563451648	.	.	.	.	.	.	8.237e-06	0	.	.	.	.	.	.	.	.	.	.	-5.022	-7.262	.	.	AC=1;AN=2;BQB=0.999462;DP4=26,12,40,20;DP=138;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960376;SF=20;SGB=-0.693147;VDB=0.254152	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:98:60:255,0,255	.	.	.	.	G	A	0	1	UDP-glycosyltransferase 1 family, polypeptide A3	.	.	.	16141793|11434514|8780690|1503396|1339448	.	.	.	KEGG_PENTOSE_AND_GLUCURONATE_INTERCONVERSIONS;KEGG_ASCORBATE_AND_ALDARATE_METABOLISM;KEGG_STEROID_HORMONE_BIOSYNTHESIS;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RETINOL_METABOLISM;KEGG_PORPHYRIN_AND_CHLOROPHYLL_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUCURONIDATION;REACTOME_PHASE_II_CONJUGATION	PM2
M	2	240982191	rs150205960	G	A	190	PASS	PRR21	proline rich 21	exonic	NM_001080835	.	missense SNV	PRR21:NM_001080835:exon1:c.C209T:p.T70I	ENST00000408934.1	.	2q37.3	.	.	.	.	.	rs150205960	.	.	0.00996678	0.0179	0.00539137	.	2.738e-05	0	0.00996678	0.00996678	0.776,T	0.001,B	0.003,B	1,N	.	-0.695,N	3.36,T	5.6212	-1.583	-6.403	.	.	AC=2;AN=4;BQB=0.753249;DP4=15,6,21,5;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.267278;MQSB=0.995546;RPB=0.00344402;SF=1,20;SGB=-0.683931;VDB=0.00368856	GT:DP:DV:PL	.	0/1:20:13:255,0,92	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:192,0,226	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
M	2	240982219	rs74006013	A	G	114.1	PASS	PRR21	proline rich 21	exonic	NM_001080835	.	missense SNV	PRR21:NM_001080835:exon1:c.T181C:p.S61P	ENST00000408934.1	.	2q37.3	.	.	.	.	.	rs74006013	.	.	.	.	.	.	0.0113	0.0043	.	0.00869565	0.156,T	0.019,B	0.014,B	1,N	.	0.345,N	1.75,T	2.7666	-0.607	-3.540	.	.	AC=24;AN=36;BQB=0.300454;DP4=162,50,146,30;DP=600;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.489956;MQSB=0.350427;RPB=0.143665;SF=0,1,2,4,6,8,9,11,13,14,15,16,17,19,20,21,22,23;SGB=-0.662043;VDB=0.507606	GT:DP:DV:PL	0/1:32:9:90,0,255	0/1:22:5:59,0,255	1/1:10:7:174,0,5	.	1/1:15:12:231,15,0	.	0/1:25:8:98,0,255	.	0/1:32:6:59,0,255	0/1:15:11:145,0,42	.	0/1:15:13:226,0,9	.	0/1:24:17:218,0,63	1/1:18:14:197,0,2	0/1:38:10:86,0,255	1/1:19:16:238,17,0	0/1:13:10:211,0,33	.	0/1:38:9:112,0,255	0/1:31:8:141,0,255	0/1:26:7:93,0,255	1/1:5:5:85,15,0	1/1:10:9:176,20,0	.	A	G	6	12	.	.	.	.		.	.	.	.	.	.	.	
L	2	240982247	rs75044548	A	G	148.83	PASS	PRR21	proline rich 21	exonic	NM_001080835	.	synonymous SNV	PRR21:NM_001080835:exon1:c.T153C:p.H51H	ENST00000408934.1	.	2q37.3	.	.	.	.	.	rs75044548	.	.	.	.	.	.	0.0237	0.0411	.	0.0217391	.	.	.	.	.	.	.	.	-0.202	0.075	.	.	AC=22;AN=38;BQB=0.911418;DP4=186,75,200,43;DP=756;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.987041;MQSB=0.894839;RPB=0.123347;SF=0,1,2,4,5,6,7,9,11,13,14,15,16,17,19,20,21,22,23;SGB=-0.616816;VDB=0.0435222	GT:DP:DV:PL	0/1:29:6:114,0,255	0/1:31:7:130,0,255	0/1:14:10:180,0,22	.	0/1:23:17:249,0,37	0/1:39:9:124,0,255	0/1:26:9:137,0,255	0/1:25:19:255,0,37	.	0/1:20:16:254,0,74	.	0/1:25:19:255,0,87	.	0/1:32:23:255,0,95	0/1:23:16:229,0,33	0/1:33:7:105,0,255	1/1:27:23:255,16,0	1/1:17:16:231,22,0	.	0/1:45:12:148,0,255	0/1:42:10:127,0,255	0/1:29:5:68,0,255	1/1:8:7:147,11,0	0/1:16:12:205,0,39	.	A	G	3	16	.	.	.	.		.	.	.	.	.	.	.	
L	2	241402836	rs150681136	G	A	222	PASS	GPC1	glypican 1	exonic	NM_002081	.	missense SNV	GPC1:NM_002081:exon4:c.G790A:p.G264S	ENST00000264039.2	.	2q37.3	.	.	.	.	.	rs150681136	.	.	0.00498339	0.0069	0.028155	0.0216	0.0280	0.0039	0.00382848500766	0.00480769432692	1.0,T	0.016,B	0.014,B	1,N	0.000034,D	0.02,N	0.94,T	5.2272	0.979	1.997	.	2.04	AC=1;AN=2;BQB=0.991551;DP4=24,13,36,7;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.350793;SF=20;SGB=-0.693146;VDB=0.245636	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:43:255,0,255	.	.	.	.	G	A	0	1	Glypican 1	.	.	.	26106858|18064304|11336704|7774946	.	INTRINSIC_TO_PLASMA_MEMBRANE;EXTRACELLULAR_REGION;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;EXTRACELLULAR_REGION_PART;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;EXTRACELLULAR_SPACE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_GLYPICAN_1PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_HS_GAG_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_AXON_GUIDANCE;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_METABOLISM_OF_CARBOHYDRATES	
L	2	241622195	rs184458523	T	C	189	PASS	AQP12B	aquaporin 12B	exonic	NM_001102467	.	synonymous SNV	AQP12B:NM_001102467:exon1:c.A60G:p.A20A	ENST00000407834.3	.	2q37.3	.	.	.	Score=0.985412;Name=chr2:241628383	.	rs184458523	.	.	.	.	.	0.0185	0.0234	0.0127	0.161932	0.230435	.	.	.	.	.	.	.	.	-0.112	-0.692	.	.	AC=13;AN=24;BQB=0.664443;DP4=758,316,123,220;DP=2012;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.114762;MQSB=0.328401;RPB=0.000757031;SF=5,8,10,11,12,13,15,16,19,20,22,24;SGB=-0.693143;VDB=1.81956e-05	GT:DP:DV:PL	.	.	.	.	.	0/1:197:38:229,0,255	.	.	0/1:122:25:255,0,255	.	1/1:50:50:255,151,0	0/1:69:20:255,0,255	0/1:159:29:189,0,255	0/1:161:34:255,0,255	.	0/1:125:25:179,0,255	0/1:160:25:142,0,255	.	.	0/1:113:30:254,0,255	0/1:111:31:255,0,255	.	0/1:31:9:154,0,255	.	0/1:119:27:255,0,255	T	C	1	11	.	.	.	.		.	.	.	.	.	.	.	
L	2	242606175	rs186573415	A	G	222	PASS	ATG4B	autophagy related 4B, cysteine peptidase	exonic	NM_013325,NM_178326	.	synonymous SNV	ATG4B:NM_013325:exon8:c.A654G:p.P218P,ATG4B:NM_178326:exon8:c.A654G:p.P218P	ENST00000404914.3,ENST00000405546.3,ENST00000402096.1,ENST00000396411.3,ENST00000474739.2	CpG: 36	2q37.3	.	.	.	.	.	rs186573415	.	.	0.0149502	0.0179	0.00359425	0.0002	0.0018	0.0261	0.00918837506891	0.0120192563702	.	.	.	.	.	.	.	.	-4.576	-5.680	.	.	AC=1;AN=2;BQB=0.965591;DP4=12,9,16,9;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.848422;SF=20;SGB=-0.692914;VDB=0.015449	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:25:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;PROTEIN_TARGETING_TO_MEMBRANE;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;TRANSPORT;PROTEIN_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	ORGANELLE_PART;MICROTUBULE_ASSOCIATED_COMPLEX;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSOL;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY	KEGG_REGULATION_OF_AUTOPHAGY	.	.	.	
L	3	5025248	rs184027436	G	A	225	PASS	BHLHE40	basic helix-loop-helix family, member e40	exonic	NM_003670	.	synonymous SNV	BHLHE40:NM_003670:exon5:c.G1110A:p.K370K	ENST00000256495.3	.	3p26.1	.	.	Score=874;Name=V$EVI1_05	.	.	rs184027436	.	.	0.00166113	0.002	0.000399361	.	8.237e-05	0.0012	0.00166113	0.00166113	.	.	.	.	.	.	.	.	1.329	2.339	1.035110,10.86	3.71	AC=3;AN=4;BQB=0.800727;DP4=28,17,55,47;DP=187;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.651878;SF=18,20;SGB=-0.693147;VDB=0.795824	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:70:70:255,211,0	.	0/1:77:32:255,0,255	.	.	.	.	G	A	1	1	Basic helix-loop-helix family, member E40	.	.	.	22905217|20347428|19679564|18025081|17502421|16878149|15994878|15665827|15223310|12397359|11879638|11668339|10449910|9284045|9240428	.	.	.	KEGG_CIRCADIAN_RHYTHM_MAMMAL	PID_HIF2PATHWAY;PID_CIRCADIANPATHWAY;PID_HIF1_TFPATHWAY	.	REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_CIRCADIAN_CLOCK	
L	3	9055162	rs533590250	G	A	222	PASS	SRGAP3	SLIT-ROBO Rho GTPase activating protein 3	exonic	NM_001033117,NM_014850	.	synonymous SNV	SRGAP3:NM_001033117:exon17:c.C1905T:p.F635F,SRGAP3:NM_014850:exon17:c.C1977T:p.F659F	ENST00000383836.3,ENST00000360413.3	.	3p25.3	.	.	Score=899;Name=V$TAL1BETAITF2_01	.	.	rs533590250	.	.	0	0.001	0.000199681	.	6.595e-05	0.0007	.	.	.	.	.	.	.	.	.	.	-0.149	0.150	1.517536,13.41	.	AC=1;AN=2;BQB=0.97561;DP4=12,10,11,8;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.578786;SF=20;SGB=-0.69168;VDB=0.200221	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:19:255,0,255	.	.	.	.	G	A	0	1	Slit-robo GTPase-activating protein, rho, 3	.	.	.	19363522|12447388|12195014|11672528|9455477	.	.	.	KEGG_AXON_GUIDANCE	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR	
L	3	10255215	rs55934261	G	A	222	PASS	IRAK2	interleukin-1 receptor-associated kinase 2	exonic	NM_001570	.	synonymous SNV	IRAK2:NM_001570:exon6:c.G771A:p.E257E	ENST00000256458.4	.	3p25.3	.	.	.	.	.	rs55934261	.	.	0.0465116	0.0327	0.00658946	.	0.0027	0.0377	0.0490046009188	0.0396634329327	.	.	.	.	.	.	.	.	0.863	1.084	.	2.42	AC=1;AN=2;BQB=0.979334;DP4=12,7,7,12;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.958279;SF=20;SGB=-0.69168;VDB=0.582385	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:19:255,0,255	.	.	.	.	G	A	0	1	Interleukin 1 receptor-associated kinase 2	.	.	.	20485341|19564352|9374458	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;DEFENSE_RESPONSE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	CELL_SURFACE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_APOPTOSIS;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY	PID_TOLL_ENDOGENOUS_PATHWAY	BIOCARTA_IL1R_PATHWAY	REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_TAK1_ACTIVATES_NFKB_BY_PHOSPHORYLATION_AND_ACTIVATION_OF_IKKS_COMPLEX;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_JNK_C_JUN_KINASES_PHOSPHORYLATION_AND_ACTIVATION_MEDIATED_BY_ACTIVATED_HUMAN_TAK1;REACTOME_ACTIVATED_TAK1_MEDIATES_P38_MAPK_ACTIVATION;REACTOME_SIGNALING_BY_ILS;REACTOME_IL1_SIGNALING;REACTOME_IRAK2_MEDIATED_ACTIVATION_OF_TAK1_COMPLEX_UPON_TLR7_8_OR_9_STIMULATION;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES;REACTOME_NOD1_2_SIGNALING_PATHWAY;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	
L	3	12978147	rs74414892	C	T	222	PASS	IQSEC1	IQ motif and Sec7 domain 1	exonic	NM_001134382,NM_014869	.	synonymous SNV	IQSEC1:NM_001134382:exon3:c.G369A:p.A123A,IQSEC1:NM_014869:exon3:c.G411A:p.A137A	ENST00000473088.1,ENST00000273221.4	CpG: 87	3p25.2	.	.	.	.	.	rs74414892	.	.	0.00664452	0.005	0.000998403	.	0.0003	0.0041	0.00664452	0.00664452	.	.	.	1,D	.	.	.	7.8689	-1.496	-0.192	1.814279,15.07	.	AC=1;AN=2;BQB=0.900915;DP4=19,22,25,23;DP=118;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.826505;SF=20;SGB=-0.693147;VDB=0.297343	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:89:48:255,0,255	.	.	.	.	C	T	0	1	IQ motif- and Sec7 domain-containing protein 1	.	.	.	16807291|14505574|11226253|9872452	.	.	.	KEGG_ENDOCYTOSIS	PID_ARF6_PATHWAY	.	.	
H	3	16926607	rs7626448	T	C	227.92	PASS	PLCL2	phospholipase C-like 2	exonic	NM_001144382	.	unknown	UNKNOWN	ENST00000460467.1,ENST00000418129.2,ENST00000396755.2	CpG: 145	3p24.3	.	.	.	.	.	rs7626448	.	.	.	.	.	.	0	.	0.610795	0.808696	.	.	.	.	.	.	.	.	-0.212	-0.288	1.919963,15.71	.	AC=50;AN=50;DP4=0,0,455,168;DP=832;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693021;VDB=0.820274	GT:DP:DV:PL	1/1:27:27:255,81,0	1/1:31:31:255,93,0	1/1:26:26:255,78,0	1/1:23:23:255,69,0	1/1:27:27:255,81,0	1/1:27:27:255,81,0	1/1:22:22:255,66,0	1/1:30:30:255,90,0	1/1:19:19:255,57,0	1/1:15:15:255,45,0	1/1:22:22:255,66,0	1/1:25:25:255,75,0	1/1:24:24:255,72,0	1/1:23:23:255,69,0	1/1:24:24:255,72,0	1/1:26:26:255,78,0	1/1:24:24:255,72,0	1/1:30:30:255,90,0	1/1:22:22:255,66,0	1/1:20:20:255,60,0	1/1:25:25:255,75,0	1/1:37:37:255,111,0	1/1:13:13:253,39,0	1/1:35:35:255,105,0	1/1:26:26:255,78,0	T	C	25	0	Phospholipase C-like 2	.	.	.	21757756|10581172|10470851	.	.	.	.	.	.	.	
H	3	32529424	.	A	C	156	PASS	CMTM6	CKLF-like MARVEL transmembrane domain containing 6	splicing	NM_017801	NM_017801:exon3:c.414+6T>G	.	.	ENST00000205636.3	.	3p22.3	.	.	Score=862;Name=V$NKX3A_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222	3.702	1.392765,12.75	5.8	AC=1;AN=2;BQB=0.603142;DP4=9,0,4,3;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.333524;SF=20;SGB=-0.636426;VDB=0.207027	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:7:189,0,215	.	.	.	.	A	C	0	1	CKLF-like marvel transmembrane domain-containing 6	.	.	.	12782130	.	.	.	.	.	.	.	PM2
M	3	36779306	rs780125616	G	A	222	PASS	DCLK3	doublecortin-like kinase 3	exonic	NM_033403	.	missense SNV	DCLK3:NM_033403:exon2:c.C845T:p.A282V	ENST00000416516.2	.	3p22.2	.	.	.	.	.	rs780125616	.	.	.	.	.	.	4.141e-05	0.0001	.	.	0.078,T	0.01,B	0.291,B	1,N	0.005786,N	0.975,L	-0.3,T	2.3874	1.416	1.369	.	3.47	AC=1;AN=2;BQB=0.878024;DP4=20,22,26,15;DP=105;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.827792;SF=20;SGB=-0.693145;VDB=0.0361126	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:83:41:255,0,255	.	.	.	.	G	A	0	1	Doublecortin-like kinase 3	.	.	.	16684769	.	.	.	.	.	.	.	
L	3	38047408	rs568812060	C	T	222	PASS	VILL	villin-like	exonic	NM_015873	.	synonymous SNV	VILL:NM_015873:exon16:c.C2076T:p.G692G	ENST00000383759.2,ENST00000465644.1,ENST00000283713.6	.	3p22.2	.	.	.	.	.	rs568812060	.	.	0	.	0.000199681	.	8.271e-06	0	.	.	.	.	.	.	.	.	.	.	0.422	0.067	1.828099,15.15	2.61	AC=1;AN=2;BQB=0.877867;DP4=40,9,32,9;DP=133;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99918;SF=20;SGB=-0.693145;VDB=0.133705	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:90:41:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	.	PM2
L	3	38052046	rs548811633	C	A	222	PASS	PLCD1	phospholipase C, delta 1	exonic	NM_001130964,NM_006225	.	synonymous SNV	PLCD1:NM_001130964:exon6:c.G861T:p.A287A,PLCD1:NM_006225:exon6:c.G798T:p.A266A	ENST00000463876.1,ENST00000334661.4	.	3p22.2	.	.	.	.	.	rs548811633	.	.	0	.	0.000199681	.	1.019e-05	0	.	.	.	.	.	.	.	.	.	.	-1.215	-1.930	2.184617,17.41	.	AC=1;AN=2;BQB=0.935407;DP4=7,13,9,9;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.496108;SF=20;SGB=-0.691153;VDB=0.30064	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:18:255,0,255	.	.	.	.	C	A	0	1	Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)	.	.	.	21665001|19448674|9588182|9345909|8672127|8381210|7890667	MEMBRANE_LIPID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS	CYTOPLASM	LIPASE_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	.	PM2
M	3	38087142	rs117463277	G	A	222	PASS	DLEC1	deleted in lung and esophageal cancer 1	exonic	NM_007335,NM_007337	.	missense SNV	DLEC1:NM_007335:exon2:c.G520A:p.A174T,DLEC1:NM_007337:exon2:c.G520A:p.A174T	ENST00000346219.3,ENST00000308059.6,ENST00000452631.2	.	3p22.2	.	.	.	.	.	rs117463277	.	.	0.0348837	0.0337	0.00698882	.	0.0036	0.0481	0.0382848393568	0.0348557516827	0.086,T	0.043,B	0.041,B	1,N	0.335428,N	2.14,M	3.43,T	3.7688	0.472	-0.023	.	.	AC=1;AN=2;BQB=0.887982;DP4=4,8,9,7;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0972947;SF=20;SGB=-0.689466;VDB=0.0867196	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:16:255,0,255	.	.	.	.	G	A	0	1	Lung cancer, 211980 (1); Esophageal cancer, 133239 (1)	.	.	.	10213508	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	CYTOPLASM	.	.	.	.	.	
M	3	39174721	rs77348972	C	G	222	PASS	TTC21A	tetratricopeptide repeat domain 21A	exonic	NM_001105513,NM_145755	.	missense SNV	TTC21A:NM_001105513:exon19:c.C2618G:p.T873S,TTC21A:NM_145755:exon20:c.C2762G:p.T921S	ENST00000493856.1,ENST00000301819.6,ENST00000440121.1,ENST00000431162.2	.	3p22.2	.	.	.	.	.	rs77348972	.	.	0.0215947	0.0218	0.00459265	0.0006	0.0022	0.0286	0.0191424513017	0.0204327024038	0.197,T	0.092,B	0.166,B	1,N	0.018589,N	2.305,M	1.22,T	14.6074	-2.165	-0.137	.	.	AC=2;AN=4;BQB=0.995953;DP4=22,11,17,14;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.63406;SF=20,24;SGB=-0.689466;VDB=0.0554092	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:16:255,0,255	.	.	.	0/1:31:15:255,0,255	C	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	3	39225577	.	G	A	222	PASS	XIRP1	xin actin binding repeat containing 1	exonic	NM_194293	.	missense SNV	XIRP1:NM_194293:exon2:c.C5360T:p.T1787I	ENST00000396251.1,ENST00000340369.3,ENST00000421646.1	.	3p22.2	.	.	Score=730;Name=V$PAX4_04	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.331,B	0.89,P	1,D	0.001757,N	2.69,M	1.14,T	8.7897	0.526	4.238	3.412064,23.0	2.4	AC=1;AN=2;BQB=0.793819;DP4=26,5,17,2;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.305972;SF=20;SGB=-0.69168;VDB=0.385941	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:19:255,0,255	.	.	.	.	G	A	0	1	Cardiomyopathy-associated protein 1	.	.	.	15454575|12203715|10021346	.	.	.	.	.	.	.	PM2
L	3	39226610	rs75731397	C	T	222	PASS	XIRP1	xin actin binding repeat containing 1	exonic	NM_194293	.	missense SNV	XIRP1:NM_194293:exon2:c.G4327A:p.G1443S	ENST00000396251.1,ENST00000340369.3,ENST00000421646.1	.	3p22.2	.	.	.	.	.	rs75731397	.	.	0.0614618	0.0546	0.0411342	0.0213	0.0244	0.0397	0.0551301663093	0.0564903997596	1.0,T	0.0,B	0.0,B	1,P	0.008296,N	-1.7,N	2.49,T	1.3871	-1.054	-1.065	.	.	AC=4;AN=8;BQB=0.927145;DP4=151,78,144,62;DP=598;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.809781;SF=0,13,18,20;SGB=-0.693147;VDB=0.053941	GT:DP:DV:PL	0/1:91:52:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:140:62:255,0,255	.	.	.	.	0/1:93:42:255,0,255	.	0/1:111:50:255,0,255	.	.	.	.	C	T	0	4	Cardiomyopathy-associated protein 1	.	.	.	15454575|12203715|10021346	.	.	.	.	.	.	.	
L	3	39307959	rs550232627	G	A	222	PASS	CX3CR1	chemokine (C-X3-C motif) receptor 1	exonic	NM_001171171,NM_001171172,NM_001171174,NM_001337	.	synonymous SNV	CX3CR1:NM_001171171:exon2:c.C42T:p.Y14Y,CX3CR1:NM_001171172:exon2:c.C42T:p.Y14Y,CX3CR1:NM_001171174:exon2:c.C138T:p.Y46Y,CX3CR1:NM_001337:exon2:c.C42T:p.Y14Y	ENST00000358309.3,ENST00000541347.1,ENST00000542107.1,ENST00000399220.2	.	3p22.2	.	.	.	.	.	rs550232627	.	.	.	.	.	.	2.487e-05	0	.	.	.	.	.	.	.	.	.	.	-0.997	-1.741	.	.	AC=1;AN=2;BQB=0.505697;DP4=8,7,5,6;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999663;SF=20;SGB=-0.676189;VDB=0.665619	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:11:255,0,255	.	.	.	.	G	A	0	1	{Rapid progression to AIDS from HIV1 infection}, 609423 (3); {Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3)	.	.	.	23716478|21037587|20974991|17909628|15653504|15208270|14607932|14581400|12697743|12569158|11477410|11264153|10731151|10702689|9390561|7590284	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;DEFENSE_RESPONSE;BEHAVIOR;LOCOMOTORY_BEHAVIOR;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CELLULAR_DEFENSE_RESPONSE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_CHEMOKINE_SIGNALING_PATHWAY	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_CHEMOKINE_RECEPTORS_BIND_CHEMOKINES;REACTOME_GPCR_LIGAND_BINDING	PM2
H	3	44636463	.	A	T	197	PASS	ZNF660	zinc finger protein 660	exonic	NM_173658	.	missense SNV	ZNF660:NM_173658:exon3:c.A778T:p.N260Y	ENST00000457331.1,ENST00000322734.2	.	3p21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398,T	0.082,B	0.447,B	0.992759,N	.	1.585,L	1.97,T	8.6804	1.887	-0.042	3.298716,22.9	4.21	AC=1;AN=2;BQB=0.913101;DP4=7,5,5,4;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.950149;SF=20;SGB=-0.662043;VDB=0.466689	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:9:230,0,255	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	3	46063009	rs181024730	C	T	222	PASS	XCR1	chemokine (C motif) receptor 1	exonic	NM_001024644,NM_005283	.	missense SNV	XCR1:NM_001024644:exon2:c.G431A:p.R144H,XCR1:NM_005283:exon3:c.G431A:p.R144H	ENST00000542109.1,ENST00000309285.3	.	3p21.31	.	.	Score=908;Name=V$SPZ1_01	.	.	rs181024730	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0019	0.001531391317	0.00166113	0.47,T	0.016,B	0.03,B	1,N	0.424113,N	1.875,L	0.97,T	7.4465	-0.494	-0.121	.	.	AC=2;AN=4;BQB=0.856135;DP4=36,32,40,23;DP=182;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.562066;SF=10,20;SGB=-0.693097;VDB=0.852759	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:63:30:255,0,255	.	.	.	.	.	.	.	.	.	0/1:68:33:255,0,255	.	.	.	.	C	T	0	2	Chemokine, C motif, receptor 1 (G protein-coupled receptor-5)	.	.	.	10702689|9632725|7832990|7683036	REGULATION_OF_BIOLOGICAL_QUALITY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;DEFENSE_RESPONSE;BEHAVIOR;LOCOMOTORY_BEHAVIOR;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;RESPONSE_TO_EXTERNAL_STIMULUS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;RESPONSE_TO_WOUNDING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PEPTIDE_BINDING;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;PEPTIDE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_CHEMOKINE_SIGNALING_PATHWAY	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_CHEMOKINE_RECEPTORS_BIND_CHEMOKINES;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	
L	3	47677540	.	A	G	90	PASS	SMARCC1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	exonic	NM_003074	.	synonymous SNV	SMARCC1:NM_003074:exon23:c.T2463C:p.D821D	ENST00000425518.1,ENST00000254480.5	.	3p21.31	.	.	Score=927;Name=V$GATA3_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.157	-0.052	.	.	AC=2;AN=4;BQB=0.509156;DP4=11,3,6,3;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.811936;SF=12,20;SGB=-0.616816;VDB=0.551573	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:6:145,0,220	.	.	.	.	.	.	.	0/1:9:3:101,0,179	.	.	.	.	A	G	0	2	SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily C, member 1	.	.	.	9693044|8804307	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CHROMATIN_REMODELING;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RNA_METABOLIC_PROCESS;CHROMATIN_MODIFICATION;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;CHROMATIN_REMODELING_COMPLEX;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	PROTEIN_N_TERMINUS_BINDING;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;PROTEIN_C_TERMINUS_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_REG_GR_PATHWAY;PID_AR_TF_PATHWAY	.	.	PM2
L	3	47887897	rs377122162	C	T	222	PASS	DHX30	DEAH (Asp-Glu-Ala-His) box helicase 30	exonic	NM_014966,NM_138615	.	synonymous SNV	DHX30:NM_138615:exon11:c.C1335T:p.N445N,DHX30:NM_014966:exon12:c.C1218T:p.N406N	ENST00000457607.1,ENST00000446256.2,ENST00000348968.4,ENST00000445061.1	CpG: 23	3p21.31	.	.	.	.	.	rs377122162	.	.	.	.	.	7.7e-05	3.309e-05	0.0001	.	.	.	.	.	.	.	.	.	.	0.033	-2.599	1.107281,11.25	.	AC=1;AN=2;BQB=0.627324;DP4=28,18,26,13;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.877372;SF=20;SGB=-0.693144;VDB=0.996525	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:85:39:255,0,255	.	.	.	.	C	T	0	1	DEAH box polypeptide 30	.	.	.	21278163|21204022|18022663|16825194|10048485	.	.	.	.	.	.	.	
H	3	48498753	rs764677203	A	G	147	PASS	ATRIP	ATR interacting protein	exonic	NM_001271022,NM_001271023,NM_032166,NM_130384	.	missense SNV	ATRIP:NM_001271023:exon5:c.A487G:p.N163D,ATRIP:NM_032166:exon5:c.A766G:p.N256D,ATRIP:NM_130384:exon5:c.A766G:p.N256D,ATRIP:NM_001271022:exon6:c.A385G:p.N129D	ENST00000357105.6,ENST00000346691.4,ENST00000412052.1,ENST00000320211.3	.	3p21.31	.	.	.	.	.	rs764677203	.	.	.	.	.	.	2.477e-05	0	.	.	0.377,T	0.795,P	0.995,D	0.975296,N	0.082467,N	2.52,M	0.94,T	6.1145	1.035	3.546	1.760601,14.76	4.73	AC=3;AN=6;BQB=0.984496;DP4=22,9,18,4;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.534333;SF=11,12,20;SGB=-0.616816;VDB=0.489657	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:15:6:189,0,216	0/1:12:4:97,0,241	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	A	G	0	3	ATR-interacting protein	.	.	.	16407120|12791985|11721054	SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;DNA_INTEGRITY_CHECKPOINT;CELL_CYCLE_CHECKPOINT_GO_0000075;RESPONSE_TO_STRESS;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_CHECKPOINT;CELL_CYCLE_GO_0007049;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_CYCLE	.	.	.	PID_FANCONI_PATHWAY;PID_ATR_PATHWAY	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_ACTIVATION_OF_ATR_IN_RESPONSE_TO_REPLICATION_STRESS;REACTOME_G2_M_CHECKPOINTS;REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT	PM2
H	3	48629340	rs139434755	G	A	222	PASS	COL7A1	collagen, type VII, alpha 1	exonic	NM_000094	.	missense SNV	COL7A1:NM_000094:exon10:c.C1348T:p.R450C	ENST00000454817.1,ENST00000328333.8	.	3p21.31	.	.	.	.	.	rs139434755	.	.	.	.	.	0.0003	0.0004	0.0009	0.00426136	0.00869565	0.007,D	0.95,D	1.0,D	0.998868,D	0.011007,N	2.34,M	0.39,T	11.2522	2.366	3.773	5.474281,26.2	4.76	AC=3;AN=6;BQB=0.748681;DP4=133,32,123,51;DP=439;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.656669;SF=11,12,20;SGB=-0.693147;VDB=0.0992572	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:111:56:255,0,255	0/1:100:52:255,0,255	.	.	.	.	.	.	.	0/1:128:66:255,0,255	.	.	.	.	G	A	0	3	Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysis bullosa dystrophica, AR, 226600 (3); Epidermolysis bullosa, pretibial, 131850 (3); EBD, Bart type, 132000 (3); EBD, localisata variant (3); Transient bullous of the newborn, 131705 (3); Epidermolysis bullosa pruriginosa, 604129 (3); Toenail dystrophy, isolated, 607523 (3); EBD inversa, 226600 (3)	.	.	.	21113014|18382769|18030675|17434045|16971478|16965329|16557343|16225626|15774758|15365990|12874109|12787275|12485454|11874498|11843659|11167698|10886525|10583163|10469344|10383749|10084325|9892921|9881948|9856844|9856843|9804332|9740253|9718359|9668111|9406826|9375848|9347800|9326325|9215684|9182828|8755915|8644730|8644729|8618021|8541842|8513326|8499916|8422754|8345225|8325648|8288900|8170945|8088784|8088783|8051117|8037207|7883979|7691888|7577595|6574478|5910871|3868959|2653224|1871109|1729268|1680286|1567409	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	.	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	3	49725325	rs147651287	G	A	222	PASS	MST1	macrophage stimulating 1	exonic	NM_020998	.	missense SNV	MST1:NM_020998:exon2:c.C100T:p.R34C	ENST00000494828.2,ENST00000383728.3,ENST00000545762.1,ENST00000449682.2	.	3p21.31	.	.	.	Score=0.975118;Name=chr1:17083685	.	rs147651287	.	.	0	0.001	0.000199681	0.0002	3.582e-05	0.0005	.	.	0.0,D	0.998,D	1.0,D	1,D	0.001738,N	2.455,M	-0.21,T	13.3722	2.533	2.915	6.959195,33	4.09	AC=1;AN=2;BQB=0.392431;DP4=33,35,21,27;DP=160;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=1;MQSB=1;RPB=0.491906;SF=20;SGB=-0.693147;VDB=2.9828e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:116:48:255,0,255	.	.	.	.	G	A	0	1	Macrophage-stimulating-1 (hepatocyte growth factor-like)	.	.	.	9486989|9045873|8393443|1655021|1354648	.	.	.	.	PID_FOXOPATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	.	
L	3	50230941	rs374784713	C	T	222	PASS	GNAT1	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	exonic	NM_000172,NM_144499	.	synonymous SNV	GNAT1:NM_000172:exon4:c.C294T:p.D98D,GNAT1:NM_144499:exon4:c.C294T:p.D98D	ENST00000433068.1,ENST00000232461.3	CpG: 158	3p21.31	.	.	Score=781;Name=V$STAT3_01	.	.	rs374784713	.	.	.	.	.	7.7e-05	0.0002	0.0014	0.00568182	0.00869565	.	.	.	.	.	.	.	.	0.312	0.380	1.926802,15.75	.	AC=3;AN=6;BQB=0.780561;DP4=61,68,49,60;DP=298;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.709459;SF=11,12,20;SGB=-0.692914;VDB=0.380004	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:61:25:255,0,255	0/1:89:48:255,0,255	.	.	.	.	.	.	.	0/1:88:36:255,0,255	.	.	.	.	C	T	0	3	Night blindness, congenital stationary, autosomal dominant 3, 610444 (3); ?Night blindness, congenital stationary, type 1G, 616389 (3)	.	.	.	22190596|19339306|17584859|15623799|11085536|8673138|8307584|7596440|2902634|2737680|1898771|1302014	SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	.	.	.	PID_RHODOPSIN_PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OPIOID_SIGNALLING;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_G_PROTEIN_ACTIVATION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS	
H	3	50324185	rs200289214	G	T	222	PASS	LSMEM2	leucine-rich single-pass membrane protein 2	exonic	NM_001304385,NM_153215	.	missense SNV	LSMEM2:NM_001304385:exon3:c.G250T:p.A84S,LSMEM2:NM_153215:exon3:c.G253T:p.A85S	ENST00000316436.3	.	3p21.31	.	.	.	.	.	rs200289214	.	.	.	.	.	7.7e-05	0.0001	0.0014	0.00568182	0.00869565	0.069,T	0.117,B	0.419,B	0.999541,N	0.123618,N	1.67,L	.	8.5948	-0.267	-0.205	2.315971,18.27	.	AC=3;AN=6;BQB=0.62781;DP4=34,16,37,17;DP=139;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993424;SF=11,12,20;SGB=-0.686358;VDB=0.700181	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	0/1:33:13:255,0,255	.	.	.	.	.	.	.	0/1:43:27:255,0,255	.	.	.	.	G	T	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	3	51812878	rs76524550	C	T	222	PASS	IQCF6	IQ motif containing F6	exonic	NM_001143833	.	missense SNV	IQCF6:NM_001143833:exon2:c.G85A:p.E29K	ENST00000398780.3	.	3p21.2	.	.	.	.	.	rs76524550	.	.	0.038206	0.0337	0.00738818	.	0.0029	0.0412	0.0795455	0.0504807848558	0.147,T	0.264,B	0.948,P	0.619918,D	.	2.015,M	0.9,T	13.4535	2.564	1.994	3.587850,23.2	4.9	AC=3;AN=6;BQB=0.720397;DP4=102,66,85,49;DP=383;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9876;SF=5,12,20;SGB=-0.693147;VDB=0.820222	GT:DP:DV:PL	.	.	.	.	.	0/1:134:67:255,0,255	.	.	.	.	.	.	0/1:79:31:255,0,255	.	.	.	.	.	.	.	0/1:89:36:255,0,255	.	.	.	.	C	T	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	3	51993306	rs140252273	G	A	215.6	PASS	PCBP4	poly(rC) binding protein 4	exonic	NM_001174100,NM_020418,NM_033008,NM_033010	.	synonymous SNV	PCBP4:NM_020418:exon10:c.C510T:p.V170V,PCBP4:NM_033008:exon10:c.C639T:p.V213V,PCBP4:NM_033010:exon10:c.C639T:p.V213V,PCBP4:NM_001174100:exon11:c.C639T:p.V213V	ENST00000428823.2,ENST00000395013.3,ENST00000484633.1,ENST00000322099.7,ENST00000461554.1,ENST00000355852.2,ENST00000395014.2,ENST00000471622.1	.	3p21.2	.	.	.	.	.	rs140252273	.	.	0.0182724	0.0288	0.00599042	0.0003	0.0031	0.0409	0.0206738162328	0.0192307425481	.	.	.	.	.	.	.	.	2.271	1.417	1.917393,15.70	4.63	AC=5;AN=10;BQB=0.990128;DP4=68,31,59,28;DP=237;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.640608;SF=12,16,18,20,22;SGB=-0.691153;VDB=0.993438	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:18:255,0,255	.	.	.	0/1:40:22:255,0,255	.	0/1:41:23:255,0,255	.	0/1:40:15:255,0,255	.	0/1:26:9:224,0,255	.	.	G	A	0	5	Poly(rC)-binding protein 4	.	.	.	14612387|10936052|10891498	MITOTIC_CELL_CYCLE_CHECKPOINT;CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;M_PHASE;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELL_CYCLE;DNA_INTEGRITY_CHECKPOINT;REGULATION_OF_MITOSIS;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELL_CYCLE_CHECKPOINT_GO_0000075;RESPONSE_TO_STRESS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;DNA_DAMAGE_CHECKPOINT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELL_CYCLE_ARREST_GO_0007050;MITOSIS;CELL_CYCLE_GO_0007049;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_CYCLE;APOPTOSIS_GO;M_PHASE_OF_MITOTIC_CELL_CYCLE;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	.	RNA_BINDING	.	PID_P53DOWNSTREAMPATHWAY	.	.	
L	3	52281046	rs150283611	C	T	222	PASS	PPM1M	protein phosphatase, Mg2+/Mn2+ dependent, 1M	exonic	NM_144641	.	synonymous SNV	PPM1M:NM_144641:exon3:c.C399T:p.A133A	ENST00000457351.2,ENST00000296487.4,ENST00000409502.3,ENST00000323588.4	.	3p21.2	.	.	.	.	.	rs150283611	.	.	0.00996678	0.0079	0.00179712	.	0.0004	0.0094	0.00142045	0.00996678	.	.	.	.	.	.	.	.	0.155	0.137	2.762316,21.2	.	AC=2;AN=4;BQB=0.999048;DP4=23,12,33,7;DP=98;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.851333;SF=17,20;SGB=-0.688148;VDB=0.517146	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:15:255,0,255	.	.	0/1:46:25:255,0,255	.	.	.	.	C	T	0	2	Protein phosphatase 1M (protein phosphatase 2C, eta isoform)	.	.	.	14654243	BIOPOLYMER_METABOLIC_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	NUCLEUS	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;CATION_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;ION_BINDING;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY;TRANSITION_METAL_ION_BINDING	.	.	.	.	
H	3	52557230	rs199577237	C	T	222	PASS	STAB1	stabilin 1	splicing	NM_015136	NM_015136:exon64:c.7021-8C>T	.	.	ENST00000321725.6	.	3p21.1	.	.	.	.	.	rs199577237	.	.	0	0.001	0.000199681	.	0.0001	0.0006	.	.	.	.	.	.	.	.	.	.	0.041	-0.484	.	.	AC=1;AN=2;BQB=0.226105;DP4=25,24,25,13;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.791083;SF=20;SGB=-0.693143;VDB=0.741874	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:87:38:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		SYSTEM_DEVELOPMENT;MULTI_ORGANISM_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_ANGIOGENESIS;DEFENSE_RESPONSE;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;CELL_CELL_SIGNALING;ORGAN_MORPHOGENESIS;RESPONSE_TO_BACTERIUM;ANGIOGENESIS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ANGIOGENESIS;RESPONSE_TO_BIOTIC_STIMULUS;RESPONSE_TO_OTHER_ORGANISM;TRANSPORT;VASCULATURE_DEVELOPMENT;DEFENSE_RESPONSE_TO_BACTERIUM;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;RECEPTOR_MEDIATED_ENDOCYTOSIS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPOPROTEIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LOW_DENSITY_LIPOPROTEIN_BINDING	.	.	.	.	
H	3	52637638	rs753344888	T	C	177	PASS	PBRM1	polybromo 1	exonic	NM_018313	.	missense SNV	PBRM1:NM_018313:exon18:c.A2678G:p.Y893C	ENST00000356770.4,ENST00000409114.3,ENST00000394830.3,ENST00000410007.1,ENST00000409057.1,ENST00000409767.1,ENST00000337303.4,ENST00000296302.7	.	3p21.1	.	.	.	.	.	rs753344888	.	.	.	.	.	.	0.0001	0.0017	0.00710227	0.00869565	0.0,D	0.999,D	1.0,D	0.999999,D	0.000000,D	2.38,M	1.11,T	16.0394	2.236	6.171	5.675923,26.7	5.57	AC=2;AN=4;BQB=0.931779;DP4=12,5,17,5;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.931779;SF=12,20;SGB=-0.616816;VDB=0.394382	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:6:165,0,172	.	.	.	.	.	.	.	0/1:27:16:255,0,255	.	.	.	.	T	C	0	2	Polybromo 1, chicken, homolog of	.	.	.	21248752|15601824|11780067|11078522	CHROMATIN_REMODELING;M_PHASE;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MITOSIS;CELL_CYCLE_GO_0007049;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;CHROMATIN_MODIFICATION;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;M_PHASE_OF_MITOTIC_CELL_CYCLE	.	.	.	.	.	.	PP3
H	3	52939210	rs146543428	T	C	222	PASS	SFMBT1	Scm-like with four mbt domains 1	exonic	NM_016329	.	missense SNV	SFMBT1:NM_016329:exon21:c.A2543G:p.K848R	ENST00000394752.3,ENST00000358080.2,ENST00000296295.6,ENST00000394750.1	.	3p21.1	.	.	.	.	.	rs146543428	.	.	0.00830565	0.0099	0.00199681	.	0.0010	0.0138	0.007656967366	0.0084134625	0.0,D	0.394,B	0.884,P	0.999998,D	0.000000,D	2.565,M	0.31,T	11.0377	2.367	6.294	5.318723,25.8	6.16	AC=1;AN=2;BQB=0.827787;DP4=6,4,11,3;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.53856;SF=20;SGB=-0.686358;VDB=0.925852	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:14:255,0,215	.	.	.	.	T	C	0	1	SCM-like protein with 4 MBT domains 1	.	.	.	17599839|10661410	.	.	.	.	.	.	.	PP3
L	3	56650012	rs4681904	G	A	201.12	PASS	CCDC66	coiled-coil domain containing 66	exonic	NM_001012506,NM_001141947	.	missense SNV	CCDC66:NM_001012506:exon13:c.G1672A:p.E558K,CCDC66:NM_001141947:exon13:c.G1774A:p.E592K	ENST00000326595.7,ENST00000394672.3,ENST00000436465.2	.	3p14.3	.	.	.	.	.	rs4681904	.	.	0.0365449	0.0327	0.0365415	.	0.0371	0.0370	0.0428790672282	0.0432692762019	0.315,T	0.04,B	0.033,B	1,N	0.053809,N	1.245,L	1.87,T	9.7068	1.511	2.381	1.451895,13.06	3.71	AC=20,1;AN=32;BQB=0.885987;DP4=65,23,135,55;DP=381;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;MQSB=1;RPB=0.948864;SF=2,3,4,5,6,7,8,9,10,11,14,15,18,20,22,24;SGB=-0.636426;VDB=0.215372	GT:DP:DV:PL	.	.	0/1:14:7:186,0,199,.,.,.	0/1:18:4:126,0,255,.,.,.	1/1:23:23:255,69,0,.,.,.	0/1:13:8:255,0,190,.,.,.	0/1:20:12:255,0,238,.,.,.	0/1:16:8:247,0,216,.,.,.	1/1:21:21:255,63,0,.,.,.	1/1:17:17:255,51,0,.,.,.	0/1:13:7:208,0,194,.,.,.	1/1:21:21:255,63,0,.,.,.	.	.	0/1:11:9:237,0,59,.,.,.	0/1:17:11:255,0,179,.,.,.	.	.	0/1:25:12:255,0,255,.,.,.	.	0/1:18:10:218,0,238,.,.,.	.	1/2:12:12:255,148,124,226,0,214	.	0/1:19:8:236,0,255,.,.,.	G	C,A	4	12	.	.	.	.		.	.	.	.	.	.	.	
H	3	57448435	rs78172374	T	C	147	PASS	DNAH12	dynein, axonemal, heavy chain 12	exonic	NM_001291661	.	unknown	UNKNOWN	ENST00000351747.2	.	3p14.3	.	.	.	.	.	rs78172374	.	.	0.00830565	0.0099	0.00219649	0.0002	0.0006	0.0097	0.00426136	0.00830565	0.001,D	0.999,D	1.0,D	0.995528,N	.	3.81,H	-0.49,T	8.4549	2.288	1.405	5.181458,25.5	4.78	AC=1;AN=2;BQB=0.740818;DP4=6,0,8,0;DP=20;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.332178;SF=20;SGB=-0.651104;VDB=0.471462	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:8:180,0,172	.	.	.	.	T	C	0	1	Dynein, heavy chain-5	.	.	.	15937072|9373155|9256245|8812413|8666668	.	.	.	.	.	.	.	
M	3	63968059	rs144324163	C	T	211	PASS	ATXN7	ataxin 7	exonic	NM_000333,NM_001128149,NM_001177387	.	missense SNV	ATXN7:NM_001128149:exon3:c.C515T:p.T172I,ATXN7:NM_001177387:exon6:c.C950T:p.T317I,ATXN7:NM_000333:exon7:c.C950T:p.T317I	ENST00000295900.6,ENST00000487717.1,ENST00000484332.1,ENST00000538065.1,ENST00000488239.1,ENST00000398590.3	.	3p14.1	.	.	.	.	.	rs144324163	.	.	0.00830565	0.006	0.00119808	.	0.0005	0.0065	0.007656967366	0.0084134625	0.16,T	0.002,B	0.001,B	1,N	0.150209,N	0,N	2.52,T	3.9252	0.904	0.668	.	2.29	AC=1;AN=2;BQB=0.694645;DP4=4,7,3,8;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.973935;SF=20;SGB=-0.676189;VDB=0.469204	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:244,0,255	.	.	.	.	C	T	0	1	Spinocerebellar ataxia 7, 164500 (3)	.	.	.	21689595|19843541|15661755|15115762|14613968|12944423|12533095|12490531|12471061|12052880|12039035|11805826|11734547|11709544|11580893|11371513|11030754|10598805|10441328|9288099	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NUCLEAR_ORGANIZATION_AND_BIOGENESIS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	NUCLEUS	.	.	.	.	.	
L	3	64582647	rs150397612	G	A	207	PASS	ADAMTS9	ADAM metallopeptidase with thrombospondin type 1 motif, 9	exonic	NM_182920	.	synonymous SNV	ADAMTS9:NM_182920:exon27:c.C4038T:p.G1346G	ENST00000498707.1,ENST00000295903.4	.	3p14.1	.	.	.	.	.	rs150397612	.	.	0.0315615	0.0298	0.0127796	0.0010	0.0073	0.0367	0.0315615	0.0396634987981	.	.	.	1,D	.	.	.	2.0417	-1.678	-0.919	1.825612,15.14	.	AC=5;AN=10;BQB=0.749117;DP4=16,39,24,37;DP=154;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997616;SF=5,6,17,20,23;SGB=-0.683931;VDB=0.372324	GT:DP:DV:PL	.	.	.	.	.	0/1:28:13:255,0,255	0/1:16:7:182,0,231	.	.	.	.	.	.	.	.	.	.	0/1:24:19:255,0,109	.	.	0/1:24:11:255,0,248	.	.	0/1:24:11:255,0,255	.	G	A	0	5	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 9	.	.	.	22419820|16799631|12514189|10936055|10718198	GLYCOPROTEIN_METABOLIC_PROCESS;GLYCOPROTEIN_CATABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	.	
H	3	71021303	rs76145927	T	C	225	PASS	FOXP1	forkhead box P1	exonic	NM_001244810	.	missense SNV	FOXP1:NM_001244810:exon18:c.A1559G:p.H520R	ENST00000318789.4,ENST00000475937.1,ENST00000498215.1,ENST00000484350.1,ENST00000491238.1,ENST00000468577.1,ENST00000493089.1	.	3p13	.	.	Score=966;Name=V$NKX22_01	.	.	rs76145927	.	.	0.0232558	0.0387	0.0091853	.	0.0018	0.0354	0.0213068	0.0228365199519	.	.	.	.	.	.	.	.	2.371	7.800	1.906264,15.63	5.87	AC=3;AN=4;BQB=0.692539;DP4=7,3,9,19;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.821851;SF=3,20;SGB=-0.680642;VDB=0.606741	GT:DP:DV:PL	.	.	.	0/1:22:12:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:16:16:255,48,0	.	.	.	.	T	C	1	1	Mental retardation with language impairment and with or without autistic features, 613670 (3)	.	.	.	25131622|24214399|20950788|20571508|19965654|18799727|18667151|16819554|15709173|15703784|12692134|11751404|8265594	.	.	.	.	.	.	.	
H	3	97888405	rs149573994	A	G	225	PASS	OR5H15	olfactory receptor, family 5, subfamily H, member 15	exonic	NM_001005515	.	missense SNV	OR5H15:NM_001005515:exon1:c.A862G:p.I288V	ENST00000356526.2	.	3q11.2	.	.	.	.	.	rs149573994	.	.	0.0182724	0.0198	0.00399361	0.0004	0.0025	0.0333	0.0222052049005	0.0192307425481	0.029,D	0.031,B	0.025,B	1,N	0.165310,N	1.34,L	1.02,T	3.1002	-0.177	-3.307	.	.	AC=3;AN=4;BQB=0.996161;DP4=16,4,36,15;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993186;SF=0,20;SGB=-0.691153;VDB=0.591982	GT:DP:DV:PL	0/1:38:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:33:33:255,99,0	.	.	.	.	A	G	1	1	.	.	.	.		.	.	.	.	.	.	.	
L	3	113304085	.	A	T	228	PASS	SIDT1	SID1 transmembrane family, member 1	exonic	NM_001308350,NM_017699	.	synonymous SNV	SIDT1:NM_001308350:exon9:c.A969T:p.G323G,SIDT1:NM_017699:exon9:c.A969T:p.G323G	ENST00000393830.3,ENST00000264852.4	.	3q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.013	.	.	AC=2;AN=2;DP4=0,0,16,10;DP=35;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692976;VDB=0.667639	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:26:26:255,78,0	.	.	.	.	A	T	1	0	.	.	.	.		.	.	.	.	.	.	.	PM2
H	3	119887003	rs143690515	G	A	222	PASS	GPR156	G protein-coupled receptor 156	exonic	NM_001168271,NM_153002	.	missense SNV	GPR156:NM_001168271:exon9:c.C1309T:p.R437W,GPR156:NM_153002:exon9:c.C1321T:p.R441W	ENST00000461057.1,ENST00000464295.1,ENST00000315843.3	.	3q13.33	.	.	.	.	.	rs143690515	.	.	0	0.003	0.00179712	0.0005	0.0005	0.0025	.	.	0.012,D	0.153,B	0.964,D	1,N	0.559023,N	0.695,N	1.82,T	8.893	0.318	1.122	2.080374,16.73	2.57	AC=1;AN=2;BQB=0.71959;DP4=29,7,35,4;DP=109;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.716491;SF=20;SGB=-0.693144;VDB=0.216274	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:39:255,0,255	.	.	.	.	G	A	0	1	G protein-coupled receptor 156	.	.	.	16229975|12591167	.	.	.	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	
M	3	121352005	rs140124715	A	G	222	PASS	HCLS1	hematopoietic cell-specific Lyn substrate 1	exonic	NM_001292041,NM_005335	.	missense SNV	HCLS1:NM_001292041:exon10:c.T806C:p.V269A,HCLS1:NM_005335:exon11:c.T917C:p.V306A	ENST00000314583.3,ENST00000473883.1,ENST00000428394.2	.	3q13.33	.	.	.	.	.	rs140124715	.	.	.	.	.	0.0003	0.0002	0.0015	.	.	0.687,T	0.002,B	0.0,B	1,N	0.119689,N	-2.08,N	2.08,T	6.7541	0.850	0.802	.	2.38	AC=1;AN=2;BQB=0.304076;DP4=7,7,7,5;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.967472;SF=20;SGB=-0.680642;VDB=0.274833	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	A	G	0	1	Hematopoietic cell-specific Lyn substrate 1	.	.	.	15931393|8978766|2587259	REGULATION_OF_BIOLOGICAL_QUALITY;RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;JAK_STAT_CASCADE;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_PHOSPHORYLATION;MYELOID_CELL_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;HOMEOSTASIS_OF_NUMBER_OF_CELLS;PROTEIN_KINASE_CASCADE;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;PEPTIDYL_TYROSINE_PHOSPHORYLATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;CELL_PROLIFERATION_GO_0008283;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PEPTIDYL_TYROSINE_MODIFICATION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_JAK_STAT_CASCADE;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;POSITIVE_REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;ORGAN_DEVELOPMENT;TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;DNA_DIRECTED_RNA_POLYMERASE_COMPLEX;NUCLEUS;DNA_DIRECTED_RNA_POLYMERASEII_CORE_COMPLEX;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;RNA_POLYMERASE_COMPLEX;NUCLEAR_DNA_DIRECTED_RNA_POLYMERASE_COMPLEX;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_TIGHT_JUNCTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_FCER1PATHWAY	.	.	
H	3	122002576	rs117375173	A	G	222	PASS	CASR	calcium-sensing receptor	exonic	NM_000388,NM_001178065	.	missense SNV	CASR:NM_000388:exon7:c.A1775G:p.N592S,CASR:NM_001178065:exon7:c.A1805G:p.N602S	ENST00000498619.1,ENST00000296154.5,ENST00000490131.1	.	3q21.1	.	.	Score=899;Name=V$NFY_01	.	.	rs117375173	.	.	0.051495	0.0446	0.00938498	0.0002	0.0033	0.0430	0.0390505332312	0.0468749855769	0.124,T	0.031,B	0.132,B	0.998085,D	0.000000,N	2.355,M	-2.89,D	11.193	1.065	5.060	.	4.75	AC=4;AN=8;BQB=0.818623;DP4=86,43,100,59;DP=393;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.943625;SF=8,9,10,20;SGB=-0.693147;VDB=0.264322	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:75:45:255,0,255	0/1:67:35:255,0,255	0/1:71:34:255,0,255	.	.	.	.	.	.	.	.	.	0/1:75:45:255,0,255	.	.	.	.	A	G	0	4	Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism, neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3)	.	.	.	23143333|22422767|20290361|18756473|17698911|17473068|17048213|17018660|16608894|16598859|16382241|15879434|15579740|15572418|15531522|15347804|15292296|15241791|15005845|14641934|12915654|12671052|12671051|12574188|12351573|12241879|12191970|12107202|12050233|12036954|11701698|11668634|11231970|11161843|11152759|11013439|10843194|10770217|10713061|10487661|10468915|10352095|10023897|9920108|9661634|9253359|9253358|9109436|9011580|8813042|8733126|8698326|8675635|8597637|8269505|8255296|8132750|7955463|7916660|7874174|7808841|7791841|7759551|7726161|7717399|7673400|7493018|7054696|6543841|6468429|5013415|2116665	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;SKELETAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;TISSUE_DEVELOPMENT;BEHAVIOR;DETECTION_OF_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;DETECTION_OF_CHEMICAL_STIMULUS;CELLULAR_CATION_HOMEOSTASIS;RESPONSE_TO_CHEMICAL_STIMULUS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;TISSUE_REMODELING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	LIPASE_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	.	PID_ECADHERIN_KERATINOCYTE_PATHWAY	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
M	3	123167263	rs189868197	G	A	116	PASS	ADCY5	adenylate cyclase 5	exonic	NM_183357	.	missense SNV	ADCY5:NM_183357:exon1:c.C130T:p.H44Y	ENST00000462833.1	CpG: 251	3q21.1	.	.	.	.	.	rs189868197	.	.	0.0116279	0.0119	0.00239617	.	0.0013	0.0323	0.0153139275651	0.0180288387019	1.0,T	0.0,B	0.0,B	0.997556,N	0.003006,U	-0.625,N	-0.37,T	2.1828	0.178	3.617	.	.	AC=1;AN=2;BQB=0.31698;DP4=2,4,2,5;DP=17;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.961166;MQSB=1;RPB=0.899815;SF=20;SGB=-0.636426;VDB=0.145738	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:7:149,0,190	.	.	.	.	G	A	0	1	Dyskinesia, familial, with facial myokymia, 606703 (3)	.	.	.	24700542|22782511|16537460|12503609|11310626|8034296|7959689|7766992	.	.	.	KEGG_PURINE_METABOLISM;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_MELANOGENESIS;KEGG_DILATED_CARDIOMYOPATHY	PID_ENDOTHELINPATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_LPA4_PATHWAY	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REACTOME_ADENYLATE_CYCLASE_INHIBITORY_PATHWAY;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_PKA_MEDIATED_PHOSPHORYLATION_OF_CREB;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_INHIBITION_OF_INSULIN_SECRETION_BY_ADRENALINE_NORADRENALINE;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_SIGNALING_BY_FGFR	
L	3	123419782	rs3732485	G	A	220	PASS	MYLK	myosin light chain kinase	exonic	NM_053025,NM_053026,NM_053027,NM_053028	.	missense SNV	MYLK:NM_053026:exon17:c.C2326T:p.R776C,MYLK:NM_053028:exon17:c.C2326T:p.R776C,MYLK:NM_053025:exon18:c.C2533T:p.R845C,MYLK:NM_053027:exon18:c.C2533T:p.R845C	ENST00000360772.3,ENST00000360304.3,ENST00000346322.5,ENST00000475616.1,ENST00000359169.1	.	3q21.1	.	.	.	Score=0.945371;Name=chr3:75374979	.	rs3732485	.	.	0.0465116	0.0526	0.0451278	0.0063	0.0274	0.0482	0.0375191050536	0.0528845903846	0.206,T	0.002,B	0.021,B	1,N	.	0,N	-0.22,T	0.6904	-0.056	-0.063	1.506208,13.35	.	AC=3;AN=6;BQB=1;DP4=25,18,24,13;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0350239;SF=0,10,20;SGB=-0.670168;VDB=0.356498	GT:DP:DV:PL	0/1:28:10:249,0,255	.	.	.	.	.	.	.	.	.	0/1:26:13:255,0,255	.	.	.	.	.	.	.	.	.	0/1:26:14:255,0,255	.	.	.	.	G	A	0	3	Aortic aneurysm, familial thoracic 7, 613780 (3)	.	.	.	21055718|11346659|11306802|10536370|10198165|9160829|8575746	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_FOCAL_ADHESION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_AURORA_B_PATHWAY	BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_RAC1_PATHWAY;BIOCARTA_RHO_PATHWAY	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	
L	3	127429497	rs370914770	C	T	222	PASS	MGLL	monoglyceride lipase	exonic	NM_001003794,NM_007283	.	synonymous SNV	MGLL:NM_001003794:exon6:c.G492A:p.A164A,MGLL:NM_007283:exon6:c.G522A:p.A174A	ENST00000434178.2,ENST00000398101.3,ENST00000398104.1,ENST00000453507.2,ENST00000476682.1,ENST00000265052.5	.	3q21.3	.	.	.	.	.	rs370914770	.	.	.	.	.	7.9e-05	7.718e-05	0	.	.	.	.	.	0.984416,D	.	.	.	12.4808	-3.502	-4.037	1.080481,11.11	.	AC=1;AN=2;BQB=0.893019;DP4=22,20,22,13;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0110237;SF=20;SGB=-0.693136;VDB=0.176111	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:35:255,0,255	.	.	.	.	C	T	0	1	Monoglyceride lipase	.	.	.	22021672|20079333|12136125|11470505|9495531	DEFENSE_RESPONSE;LIPID_METABOLIC_PROCESS;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;CARBOXYLESTERASE_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_HORMONE_SENSITIVE_LIPASE_HSL_MEDIATED_TRIACYLGLYCEROL_HYDROLYSIS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
H	3	129266417	rs762265017	T	A	222	PASS	H1FOO	H1 histone family, member O, oocyte-specific	exonic	NM_153833	.	missense SNV	H1FOO:NM_153833:exon2:c.T272A:p.L91H	ENST00000324382.2	.	3q22.1	.	.	.	.	.	rs762265017	.	.	.	.	.	.	9.963e-05	0.0020	.	.	0.18,T	0.885,P	0.99,D	1,N	0.575976,N	0.255,N	1.86,T	2.4511	-0.767	-1.274	.	.	AC=1;AN=2;BQB=0.997943;DP4=21,23,16,8;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.494323;SF=20;SGB=-0.692831;VDB=0.0020135	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:24:255,0,255	.	.	.	.	T	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	3	135721085	rs115951794	A	G	222	PASS	PPP2R3A	protein phosphatase 2, regulatory subunit B'', alpha	exonic	NM_002718	.	missense SNV	PPP2R3A:NM_002718:exon2:c.A745G:p.I249V	ENST00000490467.1,ENST00000264977.3	.	3q22.3	.	.	Score=754;Name=V$EVI1_01	.	.	rs115951794	.	.	0	.	0.00139776	0.0079	0.0052	0	.	.	0.0,D	0.978,D	0.994,D	1,D	0.000000,D	1.955,M	2.44,T	14.1948	1.925	8.959	4.223786,23.9	5.17	AC=1;AN=2;BQB=0.866252;DP4=11,3,13,4;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.647219;SF=20;SGB=-0.690438;VDB=0.374481	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:17:255,0,255	.	.	.	.	A	G	0	1	Protein phosphatase 2, regulatory subunit B'', alpha	.	.	.	8392071	BIOPOLYMER_METABOLIC_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	PROTEIN_SERINE_THREONINE_PHOSPHATASE_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	.	.	BIOCARTA_CHREBP2_PATHWAY	.	PM2,PP3
L	3	136664453	rs183326283	T	C	174	PASS	NCK1	NCK adaptor protein 1	exonic	NM_001190796,NM_001291999,NM_006153	.	synonymous SNV	NCK1:NM_001190796:exon2:c.T63C:p.S21S,NCK1:NM_001291999:exon3:c.T255C:p.S85S,NCK1:NM_006153:exon3:c.T255C:p.S85S	ENST00000469404.1,ENST00000288986.2,ENST00000481752.1	.	3q22.3	.	.	Score=826;Name=V$GR_Q6	.	.	rs183326283	.	.	0.0199336	0.0208	0.00419329	.	0.0008	0.0109	0.0199336	0.0199336	.	.	.	1,D	.	.	.	6.5525	1.162	-0.572	.	3.84	AC=2;AN=4;BQB=0.871116;DP4=18,2,17,1;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.871116;SF=16,20;SGB=-0.676189;VDB=0.945914	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:239,0,255	.	.	.	0/1:16:7:175,0,191	.	.	.	.	T	C	0	2	Non-catalytic region of tyrosine kinase	.	.	.	22398450|18093944|17803907|12181570|9737977|7956370|7806213	REGULATION_OF_BIOLOGICAL_QUALITY;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_ACTIVATION;T_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_IMMUNE_SYSTEM_PROCESS;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_POLYMERIZATION;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ACTIN_FILAMENT_LENGTH;POSITIVE_REGULATION_OF_T_CELL_PROLIFERATION;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_POLYMERIZATION;LEUKOCYTE_ACTIVATION;ACTIN_POLYMERIZATION_AND_OR_DEPOLYMERIZATION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_POLYMERIZATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_ACTIN_POLYMERIZATION_AND_OR_DEPOLYMERIZATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_LYMPHOCYTE_ACTIVATION;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_SIZE;POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELL_PROLIFERATION_GO_0008283;IMMUNE_SYSTEM_PROCESS;REGULATION_OF_T_CELL_PROLIFERATION;T_CELL_ACTIVATION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_LYMPHOCYTE_ACTIVATION;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;LYMPHOCYTE_ACTIVATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_IMMUNE_SYSTEM_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	RECEPTOR_BINDING	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_INSULIN_PATHWAY;PID_TCR_PATHWAY;PID_MET_PATHWAY;PID_EPHBFWDPATHWAY;PID_RET_PATHWAY;PID_ARF6_PATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_NETRIN_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_PDGFRBPATHWAY;PID_NEPHRIN_NEPH1_PATHWAY;PID_VEGFR1_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_ACTINY_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_TCR_SIGNALING;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_AXON_GUIDANCE;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_NEPHRIN_INTERACTIONS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
H	3	148563303	rs142211299	C	T	222	PASS	CPB1	carboxypeptidase B1 (tissue)	exonic	NM_001871	.	missense SNV	CPB1:NM_001871:exon9:c.C871T:p.R291C	ENST00000491148.1,ENST00000282957.4	.	3q24	.	.	Score=838;Name=V$CHOP_01	.	.	rs142211299	.	.	.	.	.	7.7e-05	.	.	.	.	0.0,D	0.997,D	1.0,D	1,D	0.000000,D	3.26,M	2.72,T	19.8033	2.677	7.468	8.157756,35	5.69	AC=1;AN=2;BQB=0.211592;DP4=10,9,13,5;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.604853;SF=20;SGB=-0.691153;VDB=0.00656224	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:18:255,0,255	.	.	.	.	C	T	0	1	Carboxypeptidase B1, tissue	.	.	.	2459692|1370825	.	.	EXOPEPTIDASE_ACTIVITY;CARBOXYPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY	.	.	.	.	PM2,PP3
H	3	149485212	rs182267308	C	A	222	PASS	ANKUB1	ankyrin repeat and ubiquitin domain containing 1	exonic	NM_001144960,NM_001315505,NM_001315506	.	missense SNV	ANKUB1:NM_001144960:exon5:c.G1237T:p.A413S,ANKUB1:NM_001315505:exon5:c.G799T:p.A267S,ANKUB1:NM_001315506:exon5:c.G1237T:p.A413S	ENST00000446160.1,ENST00000462519.2,ENST00000383050.3	.	3q25.1	.	.	.	.	.	rs182267308	.	.	0.00166113	0.001	0.000199681	.	.	.	.	0.00240384754808	0.121,T	0.005,B	0.01,B	1,D	.	0,N	1.92,T	6.5149	0.718	-0.044	.	2.82	AC=1;AN=2;BQB=0.997519;DP4=14,7,16,7;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.600243;SF=20;SGB=-0.692717;VDB=0.0698657	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:23:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	3	154857998	rs149431215	G	A	216	PASS	MME	membrane metallo-endopeptidase	exonic	NM_000902,NM_007287,NM_007288,NM_007289	.	missense SNV	MME:NM_000902:exon10:c.G874A:p.D292N,MME:NM_007287:exon10:c.G874A:p.D292N,MME:NM_007288:exon10:c.G874A:p.D292N,MME:NM_007289:exon10:c.G874A:p.D292N	ENST00000460393.1,ENST00000360490.2,ENST00000492661.1,ENST00000462745.1,ENST00000493237.1	.	3q25.2	.	.	Score=864;Name=V$MRF2_01	.	.	rs149431215	.	.	0.00830565	0.0089	0.00179712	0.0002	0.0005	0.0057	0.00535987897397	0.00721154110577	0.002,D	0.359,B	0.504,P	1,D	0.000016,D	1.445,L	-0.82,T	19.1928	2.596	8.363	7.024369,33	5.23	AC=1;AN=2;BQB=0.998265;DP4=6,0,8,1;DP=23;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.894839;SF=20;SGB=-0.662043;VDB=0.377003	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:9:249,0,165	.	.	.	.	G	A	0	1	[Neutral endopeptidase deficiency], 614692 (1); Membranous glomerulonephritis, antenatal, 614692 (1)	.	.	.	17296549|17101991|16226260|15944124|15778722|14687544|12087141|11375493|3038078|2971756|2957371|2570286|2529024|2528730|2521388|2521237	CELL_CELL_SIGNALING;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	METALLOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY	KEGG_RENIN_ANGIOTENSIN_SYSTEM;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_ALZHEIMERS_DISEASE	.	.	.	
L	3	159606716	rs2306063	C	T	126.66	PASS	IQCJ-SCHIP1,SCHIP1	IQCJ-SCHIP1 readthrough	exonic	NM_001197107,NM_001197108,NM_001197109,NM_001197113,NM_001197114,NM_014575	.	synonymous SNV	SCHIP1:NM_001197108:exon5:c.C606T:p.L202L,SCHIP1:NM_001197109:exon5:c.C573T:p.L191L,SCHIP1:NM_001197107:exon6:c.C1263T:p.L421L,SCHIP1:NM_014575:exon6:c.C1302T:p.L434L,IQCJ-SCHIP1:NM_001197114:exon8:c.C1449T:p.L483L,IQCJ-SCHIP1:NM_001197113:exon9:c.C1530T:p.L510L	ENST00000445224.2,ENST00000482804.1,ENST00000476809.1,ENST00000412423.2,ENST00000337808.6,ENST00000460298.1,ENST00000527095.1,ENST00000485419.1	.	3q25.33	.	.	Score=886;Name=V$RORA1_01	.	.	rs2306063	.	.	.	.	.	7.7e-05	0.0005	0.0066	0.00710227	0.0130435	.	.	.	.	.	.	.	.	0.332	0.055	1.957545,15.94	2.67	AC=2;AN=4;BQB=0.517941;DP4=1,16,8,14;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.909373;SF=20,22;SGB=-0.69168;VDB=0.452377	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:19:255,0,129	.	0/1:10:3:66,0,153	.	.	C	T	0	2	.	.	.	.		.	CYTOPLASM	IDENTICAL_PROTEIN_BINDING	.	.	.	.	
L	3	160243765	rs2272490	G	A	104.5	PASS	KPNA4	karyopherin alpha 4 (importin alpha 3)	exonic	NM_002268	.	synonymous SNV	KPNA4:NM_002268:exon9:c.C687T:p.R229R	ENST00000334256.4	.	3q25.33	.	.	.	.	.	rs2272490	.	.	0.0315615	0.0347	0.0071885	0.0012	0.0037	0.0257	0.0260336984686	0.0312500324519	.	.	.	.	.	.	.	.	0.651	0.651	1.141146,11.44	3.16	AC=4;AN=8;BQB=0.810265;DP4=10,7,8,9;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.01283;MQSB=1.01283;RPB=0.405132;SF=6,13,20,23;SGB=-0.511536;VDB=0.519801	GT:DP:DV:PL	.	.	.	.	.	.	0/1:7:3:84,0,138	.	.	.	.	.	.	0/1:5:3:113,0,82	.	.	.	.	.	.	0/1:9:3:101,0,216	.	.	0/1:13:8:253,0,167	.	G	A	0	4	Karyopherin alpha-4	.	.	.	10965137|10523667|9395085|9168958	NUCLEAR_IMPORT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_IMPORT;PROTEIN_IMPORT_INTO_NUCLEUS;MACROMOLECULE_LOCALIZATION;TRANSPORT;NLS_BEARING_SUBSTRATE_IMPORT_INTO_NUCLEUS;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	.	.	.	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	
H	3	167506993	rs146948408	T	C	178	PASS	SERPINI1	serpin peptidase inhibitor, clade I (neuroserpin), member 1	exonic	NM_001122752,NM_005025	.	missense SNV	SERPINI1:NM_001122752:exon2:c.T77C:p.I26T,SERPINI1:NM_005025:exon2:c.T77C:p.I26T	ENST00000446050.2,ENST00000295777.5	.	3q26.1	.	.	.	.	.	rs146948408	.	.	0.0199336	0.0169	0.0061901	0.0002	0.0032	0.0148	0.0122511703522	0.015625033774	0.156,T	0.032,B	0.024,B	0.694258,D	0.004305,N	0.595,N	-0.85,T	15.4201	2.081	4.136	.	5.23	AC=2;AN=4;BQB=0.41985;DP4=14,3,22,0;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0265845;SF=1,20;SGB=-0.686358;VDB=0.0335384	GT:DP:DV:PL	.	0/1:24:14:243,0,183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:8:179,0,193	.	.	.	.	T	C	0	2	Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)	.	.	.	18591508|15090543|12925575|12103288|11880376|11138927|10517635|9070919|2924765	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	PID_MYC_ACTIVPATHWAY	.	.	
L	3	183953996	rs185248797	C	T	222	PASS	VWA5B2	von Willebrand factor A domain containing 5B2	exonic	NM_138345	.	synonymous SNV	VWA5B2:NM_138345:exon8:c.C1158T:p.A386A	ENST00000273794.5,ENST00000444495.1,ENST00000426955.2	.	3q27.1	.	.	Score=900;Name=V$SRF_Q6	.	.	rs185248797	.	.	0.00332226	0.003	0.000599042	.	0.0004	0.0064	0.0198864	0.00600962201923	.	.	.	.	.	.	.	.	0.022	-1.319	1.463205,13.12	.	AC=1;AN=2;BQB=1;DP4=18,5,19,3;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.243757;SF=20;SGB=-0.692562;VDB=0.00720563	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:22:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	3	185906178	rs141461004	G	A	84.5	PASS	DGKG	diacylglycerol kinase, gamma 90kDa	splicing	NM_001080744,NM_001080745,NM_001346	NM_001080744:exon21:c.1843-10C>T;NM_001080745:exon21:c.1801-10C>T;NM_001346:exon22:c.1918-10C>T	.	.	ENST00000344484.4,ENST00000544847.1,ENST00000382164.4,ENST00000265022.3	.	3q27.2	.	.	.	.	.	rs141461004	.	.	0.0166113	0.0119	0.00239617	7.7e-05	0.0006	0.0081	0.0166113	0.0166113	.	.	.	.	.	.	.	.	0.225	3.051	1.317891,12.36	2.37	AC=2;AN=4;BQB=0.927743;DP4=8,17,2,9;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.586646;SF=13,20;SGB=-0.616816;VDB=0.105076	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:6:114,0,212	.	.	.	.	.	.	0/1:22:5:123,0,255	.	.	.	.	G	A	0	2	Diacylglycerol kinase, gamma, 90-kD	.	.	.	10206945|10071200|8248222|8034597	.	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_GLYCEROLIPID_METABOLISM;KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
H	3	188327271	rs561303530	A	G	222	PASS	LPP	LIM domain containing preferred translocation partner in lipoma	exonic	NM_001167671,NM_005578	.	missense SNV	LPP:NM_001167671:exon6:c.A752G:p.Y251C,LPP:NM_005578:exon6:c.A752G:p.Y251C	ENST00000471917.1,ENST00000543006.1,ENST00000448637.1,ENST00000312675.4	.	3q28	.	.	.	.	.	rs561303530	.	.	.	.	.	.	4.946e-05	0.0002	0.00142045	.	0.053,T	0.004,B	0.002,B	0.99995,N	0.226538,N	2.005,M	0.44,T	9.7518	1.034	3.772	1.655825,14.16	4.36	AC=1;AN=2;BQB=0.981425;DP4=23,9,14,8;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993474;SF=20;SGB=-0.692562;VDB=0.387073	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:22:255,0,255	.	.	.	.	A	G	0	1	Lipoma (3); Leukemia, acute myeloid, 601626 (3)	.	.	.	11433529|8812423|7670494|3349440	.	.	.	.	PID_ECADHERIN_STABILIZATION_PATHWAY	.	.	
H	3	189690823	rs2278760	A	C	140	PASS	P3H2	prolyl 3-hydroxylase 2	splicing	NM_001134418,NM_018192	NM_001134418:exon11:c.1006-10T>G;NM_018192:exon11:c.1549-10T>G	.	.	ENST00000427335.2,ENST00000319332.5	.	3q28	.	.	.	.	.	rs2278760	.	.	0.0215947	0.0268	0.00638978	0.0012	0.0033	0.0334	0.0215947	0.026442309375	.	.	.	.	.	.	.	.	-0.664	-0.025	.	.	AC=1;AN=2;BQB=1;DP4=0,1,1,6;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.636426;VDB=0.303719	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:8:7:175,0,13	.	.	.	.	A	C	0	1	Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)	.	.	.	24172257|21885030|15063763|15044469	.	.	.	.	.	.	.	
L	3	191888452	rs79608878	G	A	134.37	PASS	FGF12	fibroblast growth factor 12	splicing	NM_004113,NM_021032	NM_004113:exon5:c.229-7C>T;NM_021032:exon4:c.415-7C>T	.	.	ENST00000450716.1,ENST00000445105.2,ENST00000454309.2,ENST00000430714.1,ENST00000264730.3	.	3q28	.	.	.	.	.	rs79608878	.	.	0.0348837	0.0317	0.0351438	.	0.0483	0.0295	0.0222051774885	0.0264422936298	.	.	.	.	.	.	.	.	-0.271	-1.181	.	.	AC=3;AN=4;BQB=0.810265;DP4=2,2,6,9;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.01283;MQSB=1;RPB=0.405132;SF=11,20;SGB=-0.511536;VDB=0.354794	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:7:3:74,0,146	.	.	.	.	.	.	.	.	1/1:12:12:255,36,0	.	.	.	.	G	A	1	1	Fibroblast growth factor-12	.	.	.	9345906|8790420	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;ANATOMICAL_STRUCTURE_DEVELOPMENT;HEART_DEVELOPMENT;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;NUCLEUS;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	RECEPTOR_BINDING;GROWTH_FACTOR_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_MELANOMA	.	.	.	
H	3	194080902	rs751427362	G	A	222	PASS	LRRC15	leucine rich repeat containing 15	exonic	NM_001135057,NM_130830	.	missense SNV	LRRC15:NM_130830:exon2:c.C871T:p.P291S,LRRC15:NM_001135057:exon3:c.C889T:p.P297S	ENST00000428839.1,ENST00000347624.3,ENST00000439944.2	.	3q29	.	.	.	.	.	rs751427362	.	.	.	.	.	.	1.649e-05	0	.	.	0.011,D	0.999,D	1.0,D	0.999996,D	0.000003,D	-0.345,N	1.95,T	18.9947	2.566	9.367	5.172545,25.5	5.15	AC=1;AN=2;BQB=0.988603;DP4=26,10,24,14;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98778;SF=20;SGB=-0.693143;VDB=0.146661	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:38:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	3	194118565	rs71316299	C	T	222	PASS	GP5	glycoprotein V (platelet)	exonic	NM_004488	.	synonymous SNV	GP5:NM_004488:exon2:c.G447A:p.Q149Q	ENST00000401815.1,ENST00000323007.3	CpG: 109	3q29	.	.	.	.	.	rs71316299	.	.	0.00498339	0.0079	0.0207668	0.0351	0.0379	0.0075	0.00689127312404	0.00600961572115	.	.	.	.	.	.	.	.	0.262	0.032	1.629275,14.01	.	AC=1;AN=2;BQB=0.993545;DP4=15,11,11,11;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.692562;VDB=0.49351	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:22:255,0,255	.	.	.	.	C	T	0	1	Glycoprotein V, platelet	.	.	.	12070047|10590056|10557321|9616133|8519770|8407908|7690959|7632943	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_ECM_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE	.	.	REACTOME_PLATELET_ADHESION_TO_EXPOSED_COLLAGEN;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_INTRINSIC_PATHWAY;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	3	195514990	rs79746945	T	G	158	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.A3461C:p.H1154P	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	rs79746945	.	.	.	.	.	.	0.0001	0	.	.	0.4,T	0.001,B	0.002,B	1,N	.	.	1.52,T	5.3513	-1.690	-1.864	.	.	AC=4;AN=4;BQB=1;DP4=0,1,65,0;DP=75;MQ0F=0;MQ=32;MQB=1;MQSB=1;RPB=1;SF=5,20;SGB=-0.69311;VDB=5.91044e-19	GT:DP:DV:PL	.	.	.	.	.	1/1:32:31:180,75,0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:34:34:190,102,0	.	.	.	.	T	G	2	0	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	3	195514995	.	A	T	149.8	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	synonymous SNV	MUC4:NM_018406:exon2:c.T3456A:p.P1152P	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.383	-0.519	.	.	AC=10;AN=10;BQB=0.991794;DP4=7,1,152,1;DP=196;MQ0F=0;MQ=33;MQB=0.06927;MQSB=1;RPB=0.887821;SF=2,5,19,20,24;SGB=-0.692831;VDB=1.968e-13	GT:DP:DV:PL	.	.	1/1:24:24:183,72,0	.	.	1/1:40:37:178,75,0	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:37:36:155,74,0	1/1:39:35:151,34,0	.	.	.	1/1:21:21:217,63,0	A	T	5	0	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	3	195515353	rs13065435	T	A	51.01	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.A3098T:p.E1033V	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	rs13065435	.	.	.	.	.	.	4.489e-05	0	.	.	0.085,T	0.002,B	0.034,B	1,N	.	.	1.45,T	3.0418	-1.351	-1.907	.	.	AC=8;AN=16;BQB=0.655816;DP4=249,15,83,1;DP=418;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.0649933;MQSB=0.219512;RPB=0.00544635;SF=2,5,7,8,16,19,20,24;SGB=-0.676189;VDB=3.61088e-06	GT:DP:DV:PL	.	.	0/1:43:11:98,0,148	.	.	0/1:40:9:58,0,170	.	0/1:51:11:67,0,180	0/1:60:14:87,0,209	.	.	.	.	.	.	.	0/1:41:12:116,0,189	.	.	0/1:49:10:72,0,137	0/1:42:10:82,0,168	.	.	.	0/1:22:7:101,0,168	T	A	0	8	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	3	195515363	.	T	G	79.03	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.A3088C:p.T1030P	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	.	.	.	.	.	.	.	.	.	.	.	0.214,T	0.429,B	0.985,D	1,N	.	.	1.42,T	5.4441	-0.740	-4.469	.	.	AC=10;AN=20;BQB=0.996706;DP4=296,32,128,5;DP=591;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=0.149525;MQSB=0.038769;RPB=0.0752823;SF=2,5,7,9,10,12,16,19,20,24;SGB=-0.680642;VDB=5.31177e-07	GT:DP:DV:PL	.	.	0/1:43:12:137,0,215	.	.	0/1:46:13:105,0,212	.	0/1:50:18:137,0,206	.	0/1:39:9:95,0,168	0/1:54:15:110,0,187	.	0/1:59:11:56,0,181	.	.	.	0/1:40:12:121,0,195	.	.	0/1:53:16:116,0,160	0/1:50:15:107,0,195	.	.	.	0/1:27:12:144,0,190	T	G	0	10	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	3	195515365	rs564069003	T	C	66.06	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.A3086G:p.D1029G	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	rs564069003	.	.	0	.	0.000399361	.	.	.	.	.	0.022,D	0.002,B	0.023,B	1,N	.	.	1.39,T	3.6595	-1.404	-3.833	.	.	AC=11;AN=22;BQB=0.936086;DP4=413,35,138,6;DP=666;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.0927629;MQSB=0.0519995;RPB=0.0349813;SF=2,5,7,8,9,10,11,16,19,20,24;SGB=-0.680642;VDB=6.40538e-07	GT:DP:DV:PL	.	.	0/1:50:12:115,0,186	.	.	0/1:55:12:91,0,208	.	0/1:61:17:110,0,202	0/1:77:17:91,0,190	0/1:41:8:69,0,164	0/1:62:16:126,0,186	0/1:48:10:79,0,163	.	.	.	.	0/1:44:12:112,0,192	.	.	0/1:62:15:94,0,150	0/1:58:13:83,0,213	.	.	.	0/1:34:12:132,0,191	T	C	0	11	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	3	195515366	rs201613765	C	T	68.72	PASS	MUC4	mucin 4, cell surface associated	exonic	NM_018406	.	missense SNV	MUC4:NM_018406:exon2:c.G3085A:p.D1029N	ENST00000463781.3,ENST00000349607.4,ENST00000475231.1,ENST00000346145.4	.	3q29	.	.	.	Score=0.920296;Name=chr3:195506461	.	rs201613765	.	.	.	.	.	.	.	.	.	.	0.041,D	0.141,B	0.98,D	1,N	.	.	1.43,T	3.0092	-0.473	-0.055	.	.	AC=9;AN=18;BQB=0.998703;DP4=314,35,116,3;DP=543;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.0848403;MQSB=0.0189801;RPB=0.0268379;SF=2,5,7,9,10,16,19,20,24;SGB=-0.680642;VDB=6.40538e-07	GT:DP:DV:PL	.	.	0/1:55:12:102,0,219	.	.	0/1:55:12:91,0,208	.	0/1:63:19:139,0,202	.	0/1:40:8:72,0,171	0/1:58:15:102,0,199	.	.	.	.	.	0/1:45:13:111,0,206	.	.	0/1:63:15:88,0,147	0/1:54:13:90,0,222	.	.	.	0/1:35:12:130,0,212	C	T	0	9	Mucin 4, tracheobronchial	.	.	.	17058067|1673336|1351710	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_BINDING;CYTOKINE_ACTIVITY	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	3	195944708	rs868575162	G	A	222	PASS	SLC51A	solute carrier family 51, alpha subunit	splicing	NM_152672	NM_152672:exon2:c.39-5G>A	.	.	ENST00000296327.5	.	3q29	.	.	.	.	.	rs868575162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.743	-0.257	.	.	AC=1;AN=2;BQB=0.38316;DP4=16,4,16,6;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951657;SF=20;SGB=-0.692562;VDB=0.471712	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:22:255,0,255	.	.	.	.	G	A	0	1	Organic solute transporter, alpha	.	.	.	18292224|15563450|12719432	.	.	.	.	.	.	.	PM2
L	3	196295888	rs576470291	C	T	189.75	PASS	FBXO45	F-box protein 45	exonic	NM_001105573	.	synonymous SNV	FBXO45:NM_001105573:exon1:c.C33T:p.A11A	ENST00000311630.6,ENST00000440469.1	.	3q29	.	.	Score=748;Name=V$MYOGNF1_01	.	Score=350;Name="3252684:(CGG)n(Simple_repeat)"	rs576470291	.	.	0.0614618	0.0665	0.0395367	.	0	.	.	0.0612980908654	.	.	.	.	.	.	.	.	2.100	0.424	1.701806,14.42	3.66	AC=4;AN=8;BQB=0.239521;DP4=49,5,52,7;DP=148;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.63061;SF=1,20,22,24;SGB=-0.692067;VDB=0.78622	GT:DP:DV:PL	.	0/1:40:20:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:18:211,0,242	.	0/1:13:6:170,0,148	.	0/1:26:15:255,0,199	C	T	0	4	F-box only protein 45	.	.	.	19996097|19398581|15520277	.	.	.	.	PID_P73PATHWAY	.	.	
H	3	197420666	rs375434222	C	G	222	PASS	RUBCN	.	exonic	NM_001145642,NM_014687	.	missense SNV	RUBCN:NM_014687:exon11:c.G1706C:p.S569T,RUBCN:NM_001145642:exon12:c.G1571C:p.S524T	ENST00000389665.5,ENST00000273582.5,ENST00000296343.5	.	3q29	.	.	Score=827;Name=V$PPARG_03	.	.	rs375434222	.	.	0.00332226	0.004	0.000798722	.	0.0001	0.0013	0.00332226	0.0036057709375	0.412,T	0.275,B	0.659,P	0.72362,D	0.000192,D	1.61,L	.	14.9102	2.657	2.979	2.586026,20.1	5.64	AC=1;AN=2;BQB=0.988235;DP4=9,4,7,6;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.967661;SF=20;SGB=-0.683931;VDB=0.0365336	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:13:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	4	86186	rs144036354	C	G	222	PASS	ZNF595	zinc finger protein 595	exonic	NM_001286052,NM_001286053,NM_001286054,NM_182524	.	unknown	UNKNOWN	ENST00000339368.6	.	4p16.3	.	.	.	.	.	rs144036354	.	.	0.0232558	0.0179	0.00359425	.	0.0011	0.0155	0.0232558	0.0192307585337	.	.	.	.	.	.	.	.	-0.646	-4.274	1.255811,12.04	.	AC=1;AN=2;BQB=0.975619;DP4=51,20,48,17;DP=198;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.960699;MQSB=0.988207;RPB=0.858077;SF=20;SGB=-0.693147;VDB=0.174589	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:136:65:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	4	155408	rs117033117	C	G	225	PASS	ZNF718	zinc finger protein 718	exonic	NM_001039127,NM_001289930,NM_001289931	.	missense SNV	ZNF718:NM_001039127:exon5:c.C933G:p.F311L,ZNF718:NM_001289931:exon5:c.C837G:p.F279L	ENST00000510175.1	.	4p16.3	.	.	.	.	.	rs117033117	.	.	0.0249169	0.0179	0.00359425	0.0002	0.0016	0.0228	0.0222052062787	0.0228365057692	.	.	.	.	.	.	.	.	0.452	-0.226	.	.	AC=3;AN=4;BQB=0.422441;DP4=17,13,58,38;DP=164;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.110478;SF=0,20;SGB=-0.69311;VDB=0.256633	GT:DP:DV:PL	0/1:61:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:65:65:255,196,0	.	.	.	.	C	G	1	1	.	.	.	.		.	.	.	.	.	.	.	
L	4	680336	rs199527986	G	A	222	PASS	MFSD7	major facilitator superfamily domain containing 7	exonic	NM_001294341,NM_001294342,NM_032219	.	synonymous SNV	MFSD7:NM_001294341:exon2:c.C279T:p.V93V,MFSD7:NM_001294342:exon2:c.C213T:p.V71V,MFSD7:NM_032219:exon2:c.C279T:p.V93V	ENST00000513740.1,ENST00000347950.5,ENST00000404286.2,ENST00000322224.4,ENST00000503156.1,ENST00000515118.1	CpG: 24	4p16.3	.	.	.	.	.	rs199527986	.	.	0.00332226	0.002	0.000399361	.	0.0002	0.0029	0.00229708830015	0.00480769233173	.	.	.	.	.	.	.	.	-1.356	-3.189	.	.	AC=1;AN=2;BQB=0.532054;DP4=18,3,24,2;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.895113;SF=20;SGB=-0.692976;VDB=0.633833	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:26:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	4	960984	rs199737937	C	T	222	PASS	DGKQ	diacylglycerol kinase, theta 110kDa	exonic	NM_001347	.	missense SNV	DGKQ:NM_001347:exon9:c.G1153A:p.E385K	ENST00000273814.3	.	4p16.3	.	.	.	.	.	rs199737937	.	.	0.00166113	0.001	0.000199681	.	4.861e-05	0.0006	0.00166113	0.00166113	0.158,T	0.829,P	0.981,D	0.998811,D	0.077862,N	1.76,L	-1.41,T	8.9732	1.102	0.370	4.312660,24.0	4.17	AC=1;AN=2;BQB=0.953488;DP4=20,14,30,11;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.772566;SF=20;SGB=-0.693145;VDB=0.173338	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:41:255,0,255	.	.	.	.	C	T	0	1	Diacylglycerol kinase, theta, 110kD	.	.	.	10206945|9099683|8617502	.	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_GLYCEROLIPID_METABOLISM;KEGG_GLYCEROPHOSPHOLIPID_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
M	4	1161369	rs765670986	A	G	222	PASS	SPON2	spondin 2, extracellular matrix protein	exonic	NM_001128325,NM_001199021,NM_012445	.	missense SNV	SPON2:NM_012445:exon6:c.T887C:p.L296P,SPON2:NM_001128325:exon7:c.T887C:p.L296P,SPON2:NM_001199021:exon8:c.T887C:p.L296P	ENST00000290902.5,ENST00000431380.1	CpG: 47	4p16.3	.	.	.	.	.	rs765670986	.	.	.	.	.	.	8.294e-06	0.0001	0.00142045	.	0.33,T	0.002,B	0.007,B	0.999978,N	0.577079,N	-0.23,N	2.17,T	6.6421	0.620	1.987	.	2.32	AC=1;AN=2;BQB=0.993776;DP4=20,11,31,19;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979397;SF=20;SGB=-0.693147;VDB=0.00274477	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:50:255,0,255	.	.	.	.	A	G	0	1	Spondin 2	.	.	.	14691481|10512675	AXON_GUIDANCE;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELL_MIGRATION	.	.	.	PID_INTEGRIN2_PATHWAY	.	.	
L	4	1388662	rs9762106	G	C	99.63	PASS	CRIPAK	cysteine-rich PAK1 inhibitor	exonic	NM_175918	.	synonymous SNV	CRIPAK:NM_175918:exon1:c.G363C:p.P121P	ENST00000324803.4	CpG: 70	4p16.3	.	.	.	.	.	rs9762106	.	.	0.0315615	0.0238	0.0207668	0.0055	0.0048	0.0093	0.0315615	0.0315615	0.198,T	.	.	1,N	.	.	.	3.6025	-2.767	-0.963	.	.	AC=8;AN=16;BQB=0.053346;DP4=475,431,45,169;DP=1599;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.750905;MQSB=0.971237;RPB=0.492915;SF=2,6,7,10,15,19,20,23;SGB=-0.692976;VDB=5.92024e-05	GT:DP:DV:PL	.	.	0/1:142:26:135,0,255	.	.	.	0/1:117:29:230,0,255	0/1:132:25:59,0,255	.	.	0/1:115:21:119,0,255	.	.	.	.	0/1:110:23:196,0,255	.	.	.	0/1:153:31:154,0,255	0/1:124:21:80,0,255	.	.	0/1:227:38:104,0,255	.	G	C	0	8	Cysteine-rich inhibitor of PAK1	.	.	.	16278681	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ER_NUCLEAR_SIGNALING_PATHWAY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_HORMONE_STIMULUS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;NUCLEUS;PLASMA_MEMBRANE	.	.	.	.	.	
L	4	1388666	rs9760377	C	T	117.83	PASS	CRIPAK	cysteine-rich PAK1 inhibitor	exonic	NM_175918	.	missense SNV	CRIPAK:NM_175918:exon1:c.C367T:p.R123W	ENST00000324803.4	CpG: 70	4p16.3	.	.	.	.	.	rs9760377	.	.	0.0315615	0.0288	0.0259585	.	0.0015	0.0033	0.0315615	0.0315615	0.19,T	0.0,B	0.0,B	1,N	.	-0.345,N	2.15,T	0.3695	-2.978	-2.319	.	.	AC=13;AN=26;BQB=0.43451;DP4=579,564,72,232;DP=2387;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.573746;MQSB=0.54654;RPB=0.18541;SF=1,2,3,6,7,10,11,15,16,19,20,23,24;SGB=-0.691153;VDB=0.00102302	GT:DP:DV:PL	.	0/1:90:18:145,0,255	0/1:134:26:159,0,255	0/1:76:13:135,0,255	.	.	0/1:109:32:255,0,255	0/1:111:26:82,0,255	.	.	0/1:96:20:141,0,255	0/1:88:13:66,0,255	.	.	.	0/1:93:22:206,0,255	0/1:80:14:92,0,255	.	.	0/1:121:30:218,0,255	0/1:105:23:153,0,255	.	.	0/1:189:43:215,0,255	0/1:155:24:117,0,255	C	T	0	13	Cysteine-rich inhibitor of PAK1	.	.	.	16278681	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ER_NUCLEAR_SIGNALING_PATHWAY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_HORMONE_STIMULUS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;NUCLEUS;PLASMA_MEMBRANE	.	.	.	.	.	
M	4	1388759	rs112233131	C	T	189	PASS	CRIPAK	cysteine-rich PAK1 inhibitor	exonic	NM_175918	.	missense SNV	CRIPAK:NM_175918:exon1:c.C460T:p.R154W	ENST00000324803.4	CpG: 70	4p16.3	.	.	.	.	.	rs112233131	.	.	.	.	.	.	0.0025	0.0014	.	.	0.186,T	0.001,B	0.076,B	1,N	.	-0.695,N	2.12,T	0.8279	-3.215	-2.065	.	.	AC=20;AN=40;BQB=0.94711;DP4=478,431,414,262;DP=2885;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.229249;MQSB=0.45679;RPB=0.834381;SF=0,1,2,3,4,6,7,8,10,11,12,13,14,15,16,19,20,21,23,24;SGB=-0.692562;VDB=0.0893998	GT:DP:DV:PL	0/1:82:22:164,0,255	0/1:57:33:255,0,231	0/1:81:16:136,0,255	0/1:59:15:156,0,255	0/1:52:27:247,0,224	.	0/1:61:28:255,0,255	0/1:83:37:255,0,255	0/1:73:23:233,0,255	.	0/1:62:30:255,0,255	0/1:59:26:255,0,232	0/1:42:12:145,0,255	0/1:99:56:255,0,255	0/1:66:40:255,0,225	0/1:54:23:186,0,227	0/1:62:35:255,0,221	.	.	0/1:92:41:255,0,255	0/1:81:40:255,0,255	0/1:172:40:121,0,255	.	0/1:122:74:255,0,255	0/1:126:58:255,0,255	C	T	0	20	Cysteine-rich inhibitor of PAK1	.	.	.	16278681	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ER_NUCLEAR_SIGNALING_PATHWAY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_HORMONE_STIMULUS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;NUCLEUS;PLASMA_MEMBRANE	.	.	.	.	.	
M	4	1729959	rs139066088	C	T	222	PASS	TACC3	transforming, acidic coiled-coil containing protein 3	exonic	NM_006342	.	missense SNV	TACC3:NM_006342:exon4:c.C830T:p.A277V	ENST00000313288.4	.	4p16.3	.	.	.	.	.	rs139066088	.	.	0.00830565	0.0119	0.00239617	0.0003	0.0006	0.0049	0.00689127303216	0.00721154110577	0.534,T	0.0,B	0.001,B	1,N	0.000126,N	-1.1,N	2.8,T	1.127	-0.613	-0.885	.	.	AC=1;AN=2;BQB=0.984414;DP4=27,14,27,18;DP=111;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.828258;SF=20;SGB=-0.693147;VDB=0.190176	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:86:45:255,0,255	.	.	.	.	C	T	0	1	Transforming, acidic, coiled-coil-containing protein 3	.	.	.	22837387|17920017|17545617|12569123|10435627|10366448	.	.	.	.	PID_ILK_PATHWAY;PID_AURORA_A_PATHWAY	.	.	
H	4	1808921	rs768114770	G	T	222	PASS	FGFR3	fibroblast growth factor receptor 3	exonic	NM_000142,NM_001163213,NM_022965	.	missense SNV	FGFR3:NM_022965:exon16:c.G2017T:p.D673Y,FGFR3:NM_000142:exon18:c.G2353T:p.D785Y,FGFR3:NM_001163213:exon18:c.G2359T:p.D787Y	ENST00000412135.2,ENST00000352904.1,ENST00000340107.4,ENST00000260795.2,ENST00000440486.2,ENST00000481110.2	.	4p16.3	.	.	.	.	.	rs768114770	.	.	.	.	.	.	2.956e-05	0.0002	.	.	0.0,D	0.448,P	0.741,P	1,D	0.152987,N	.	-1.67,D	13.1299	1.050	7.631	4.881900,24.9	3.76	AC=1;AN=2;BQB=0.804333;DP4=18,7,21,15;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997315;SF=20;SGB=-0.693139;VDB=0.141667	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:36:255,0,255	.	.	.	.	G	T	0	1	Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3); Crouzon syndrome with acanthosis nigricans, 612247 (3); Muenke syndrome, 602849 (3); Bladder cancer, somatic, 109800 (3); Colorectal cancer, somatic, 114500 (3); Cervical cancer, somatic, 603956 (3); LADD syndrome, 149730 (3); CATSHL syndrome, 610474 (3); Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3); Spermatocytic seminoma, somatic, 273300 (3); SADDAN, 616482 (3)	.	.	.	25231866|24864036|23726269|23696738|22837387|22038757|21324899|20624921|20053668|19855393|19449430|19286672|19215249|18923003|18818193|18642369|18266238|18076102|18000903|17935505|17895900|17621648|17360555|17360456|17033969|16912704|16841094|16766665|16752380|16501574|16411219|15843401|15781473|15772091|15517832|15241680|15221641|14702637|14699054|14681299|14613973|12966031|12833394|12707965|12624096|12028033|11906172|11779141|11746040|11745189|11529856|11526491|11424131|11406607|11325814|11314002|11186940|11186939|11181569|11134040|11055896|11030304|10861287|10777366|10671061|10646125|10611230|10587515|10482885|10471491|10425034|10395236|10361991|10360402|10360393|10360392|10215410|10094188|10073901|10053006|9950359|9887329|9843059|9843049|9842995|9811582|9677066|9672519|9600744|9585583|9580776|9525367|9452043|9450868|9401015|9300656|9279764|9279753|9207791|9126476|9107244|9069288|9042914|8943038|8858131|8845844|8841188|8723106|8673103|8640234|8630492|8601314|8599370|8589699|8589686|8078586|7959747|7913883|7847369|7773297|7758520|7670477|7649548|7647778|7495869|7493034|4697848|3222210|1847508|1664411	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;JAK_STAT_CASCADE;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;PROTEIN_KINASE_CASCADE;ANATOMICAL_STRUCTURE_DEVELOPMENT;MAPKKK_CASCADE_GO_0000165;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	IDENTICAL_PROTEIN_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_BLADDER_CANCER	PID_FGF_PATHWAY	.	REACTOME_NEGATIVE_REGULATION_OF_FGFR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR3_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS;REACTOME_FRS2_MEDIATED_CASCADE;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_PI3K_CASCADE	
L	4	3425299	rs138192478	C	T	222	PASS	RGS12	regulator of G-protein signaling 12	exonic	NM_002926,NM_198227,NM_198229	.	synonymous SNV	RGS12:NM_198227:exon11:c.C1221T:p.P407P,RGS12:NM_002926:exon13:c.C3165T:p.P1055P,RGS12:NM_198229:exon13:c.C3165T:p.P1055P	ENST00000344733.5,ENST00000338806.4,ENST00000306648.7,ENST00000538395.1,ENST00000336727.3,ENST00000382788.3,ENST00000508158.1	.	4p16.3	.	.	Score=771;Name=V$PAX5_01	.	.	rs138192478	.	.	0.0481728	0.0476	0.00978435	0.0007	0.0028	0.0354	0.039816276876	0.0408654069712	.	.	.	.	.	.	.	.	-2.885	-2.641	1.920817,15.72	.	AC=4;AN=8;BQB=0.219452;DP4=80,68,74,63;DP=390;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.493585;SF=3,6,10,20;SGB=-0.693139;VDB=0.024105	GT:DP:DV:PL	.	.	.	0/1:67:36:255,0,255	.	.	0/1:66:29:255,0,255	.	.	.	0/1:76:37:255,0,255	.	.	.	.	.	.	.	.	.	0/1:76:35:255,0,255	.	.	.	.	C	T	0	4	Regulator of G protein signaling 12	.	.	.	11829488|11130074|10203790|9651375|9168931	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_SIGNAL_TRANSDUCTION;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	ORGANELLE_PART;NUCLEAR_CHROMOSOME;NUCLEAR_PART;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;CONDENSED_NUCLEAR_CHROMOSOME;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CONDENSED_CHROMOSOME;CHROMOSOME	GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;GTPASE_ACTIVATOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS	
H	4	3495182	rs77513082	C	T	221.67	PASS	DOK7	docking protein 7	exonic	NM_001256896,NM_001301071,NM_173660	.	missense SNV	DOK7:NM_001256896:exon4:c.C539T:p.S180L,DOK7:NM_001301071:exon7:c.C1469T:p.S490L,DOK7:NM_173660:exon7:c.C1469T:p.S490L	ENST00000340083.5,ENST00000512714.1,ENST00000507039.1,ENST00000389653.2	.	4p16.3	.	.	.	.	.	rs77513082	.	.	0.0415282	0.0268	0.00638978	0.0003	0.0067	0.0444	0.0329249534456	0.0372595990385	0.212,T	0.007,B	0.023,B	1,N	0.381162,N	1.32,L	-0.06,T	5.7017	-0.009	1.929	1.108329,11.26	.	AC=3;AN=6;BQB=0.958776;DP4=83,45,49,31;DP=288;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.270005;SF=1,20,22;SGB=-0.69311;VDB=0.270377	GT:DP:DV:PL	.	0/1:73:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:26:255,0,255	.	0/1:54:23:255,0,255	.	.	C	T	0	3	Myasthenic syndrome, congenital, 10, 254300 (3); ?Fetal akinesia deformation sequence, 208150 (3)	.	.	.	25237101|21041412|20147321|19261599|18626973|16917026|16794080	.	.	.	.	.	.	.	
H	4	3534052	rs201806719	T	A	222	PASS	LRPAP1	low density lipoprotein receptor-related protein associated protein 1	exonic	NM_002337	.	missense SNV	LRPAP1:NM_002337:exon1:c.A88T:p.S30C	ENST00000500728.2	CpG: 109	4p16.3	.	.	.	.	.	rs201806719	.	.	0.00498339	0.003	0.000599042	.	0.0006	0.0095	0.00306278528331	0.00600961572115	0.046,D	0.749,P	0.938,P	1,N	0.272519,N	1.39,L	0.89,T	5.749	0.096	0.686	3.454213,23.0	.	AC=3;AN=6;BQB=0.634339;DP4=74,43,61,32;DP=335;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.910243;SF=7,20,23;SGB=-0.692914;VDB=0.00211086	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:54:25:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:65:28:255,0,255	.	.	0/1:91:40:255,0,255	.	T	A	0	3	Myopia 23, autosomal recessive, 615431 (3)	.	.	.	23830514|9207124|8654360|7959795|7789983|7538675|7535288|3266596|1712782|1400426	PROTEIN_FOLDING;ESTABLISHMENT_OF_LOCALIZATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;PLASMA_MEMBRANE	CARBOHYDRATE_BINDING;CATION_BINDING;HEPARIN_BINDING;CALCIUM_ION_BINDING;LIPOPROTEIN_BINDING;POLYSACCHARIDE_BINDING;ION_BINDING;RECEPTOR_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;PATTERN_BINDING;UNFOLDED_PROTEIN_BINDING;GLYCOSAMINOGLYCAN_BINDING	.	PID_REELINPATHWAY;PID_LIS1PATHWAY;PID_HEDGEHOG_2PATHWAY	.	.	
L	4	6925389	rs117097571	C	G	222	PASS	TBC1D14	TBC1 domain family, member 14	exonic	NM_001113361,NM_020773	.	synonymous SNV	TBC1D14:NM_001113361:exon2:c.C273G:p.S91S,TBC1D14:NM_020773:exon2:c.C273G:p.S91S	ENST00000409757.4,ENST00000448507.1	CpG: 33	4p16.1	.	.	.	.	.	rs117097571	.	.	0.0215947	0.0159	0.00319489	.	0.0015	0.0200	0.0145482475651	0.0300480846154	.	.	.	.	.	.	.	.	-3.362	-4.060	.	.	AC=2;AN=4;BQB=0.981601;DP4=47,23,43,30;DP=185;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.810188;SF=15,20;SGB=-0.693136;VDB=0.204899	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:35:255,0,255	.	.	.	.	0/1:77:38:255,0,255	.	.	.	.	C	G	0	2	TBC1 domain family, member 14	.	.	.	22613832|10718198	.	.	.	.	.	.	.	
L	4	15539587	rs185072004	G	A	222	PASS	CC2D2A	coiled-coil and C2 domain containing 2A	exonic	NM_001080522	.	synonymous SNV	CC2D2A:NM_001080522:exon17:c.G1830A:p.P610P	ENST00000424120.1,ENST00000513811.1,ENST00000503292.1,ENST00000389652.5,ENST00000413206.1	.	4p15.32	.	.	.	.	.	rs185072004	.	.	0.00996678	0.0099	0.00199681	.	0.0005	0.0064	0.00996678	0.00996678	.	.	.	.	.	.	.	.	-1.510	-0.388	.	.	AC=1;AN=2;BQB=0.75786;DP4=13,4,13,6;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0639774;SF=20;SGB=-0.69168;VDB=0.0511003	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:19:255,0,255	.	.	.	.	G	A	0	1	Joubert syndrome 9, 612285 (3); Meckel syndrome 6, 612284 (3); COACH syndrome, 216360 (3)	.	.	.	22246503|21725307|21422230|19574260|18950740|18513680|18387594|10718198	.	.	.	.	.	.	.	
L	4	20255620	rs13103320	G	A	222	PASS	SLIT2	slit guidance ligand 2	splicing	NM_001289135,NM_001289136,NM_004787	NM_001289135:exon1:c.179+3G>A;NM_001289136:exon1:c.179+3G>A;NM_004787:exon1:c.179+3G>A	.	.	ENST00000503837.1,ENST00000503823.1,ENST00000504154.1,ENST00000273739.5	CpG: 291	4p15.31	.	.	.	.	.	rs13103320	.	.	0.0215947	0.0198	0.0297524	0.0134	0.0254	0.0198	0.0160796200613	0.0215947	.	.	.	.	.	.	.	.	1.006	0.789	2.174397,17.34	3.13	AC=2;AN=4;BQB=0.928465;DP4=64,42,49,41;DP=259;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.238701;SF=4,20;SGB=-0.693145;VDB=0.0517427	GT:DP:DV:PL	.	.	.	.	0/1:86:40:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:110:50:255,0,255	.	.	.	.	G	A	0	2	Slit, Drosophila, homolog of, 2	.	.	.	23903657|17448996|15130495|11804571|11804570|11309622|11239147|10575218|10432110|10102269|10102268|10102267|9813312	AXON_GUIDANCE;POSITIVE_REGULATION_OF_RESPONSE_TO_STIMULUS;SYSTEM_DEVELOPMENT;TISSUE_MORPHOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;REGULATION_OF_AXONOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;TISSUE_DEVELOPMENT;BEHAVIOR;LOCOMOTORY_BEHAVIOR;REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MESODERM_DEVELOPMENT;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;CELL_RECOGNITION;RESPONSE_TO_CHEMICAL_STIMULUS;SENSORY_PERCEPTION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;REGULATION_OF_RESPONSE_TO_STIMULUS;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;GLIOGENESIS;EMBRYONIC_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_NEUROGENESIS;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;CELL_MIGRATION;ORGAN_DEVELOPMENT;SYSTEM_PROCESS	EXTRACELLULAR_REGION	RECEPTOR_BINDING	KEGG_AXON_GUIDANCE	PID_GLYPICAN_1PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_ACTIVATION_OF_RAC;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_NETRIN1_SIGNALING	
L	4	24801263	rs572586805	C	G	222	PASS	SOD3	superoxide dismutase 3, extracellular	exonic	NM_003102	.	synonymous SNV	SOD3:NM_003102:exon2:c.C120G:p.A40A	ENST00000382120.3	CpG: 109	4p15.2	.	.	.	.	.	rs572586805	.	.	0.00332226	0.002	0.00179712	.	0.0010	0.0009	0.00332226	0.00332226	.	.	.	.	.	.	.	.	0.445	0.292	.	.	AC=1;AN=2;BQB=0.760976;DP4=22,9,23,8;DP=82;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.301451;SF=20;SGB=-0.69311;VDB=0.107085	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:31:255,0,255	.	.	.	.	C	G	0	1	[Superoxide dismutase, elevated extracellular] (3)	.	.	.	14662715|14619883|8034674|7959763|7662997|6541229|3476950|2276747|1477980	.	CELL_FRACTION;SOLUBLE_FRACTION	.	.	.	BIOCARTA_LONGEVITY_PATHWAY	.	
L	4	25673284	rs79450009	C	T	223.5	PASS	SLC34A2	solute carrier family 34 (type II sodium/phosphate cotransporter), member 2	exonic	NM_001177998,NM_001177999,NM_006424	.	missense SNV	SLC34A2:NM_001177998:exon9:c.C986T:p.T329M,SLC34A2:NM_001177999:exon9:c.C986T:p.T329M,SLC34A2:NM_006424:exon9:c.C989T:p.T330M	ENST00000504570.1,ENST00000382051.3,ENST00000503434.1	.	4p15.2	.	.	Score=835;Name=V$CDPCR1_01	.	.	rs79450009	.	.	0.0481728	0.0427	0.0219649	0.0015	0.0208	0.0458	0.0574272735069	0.0552884802885	0.021,D	0.143,B	0.819,P	0.872954,N	0.003534,N	2.2,M	1.8,T	13.4862	1.370	0.047	2.512258,19.55	4.7	AC=5;AN=8;BQB=0.985606;DP4=52,27,82,35;DP=278;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978119;SF=8,10,14,20;SGB=-0.692717;VDB=0.0777558	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:49:23:255,0,255	.	0/1:54:30:255,0,255	.	.	.	1/1:42:42:255,126,0	.	.	.	.	.	0/1:51:22:255,0,255	.	.	.	.	C	T	1	3	Pulmonary alveolar microlithiasis, 265100 (3); ?Testicular microlithiasis, 610441 (3)	.	.	.	16960801|14531010|12413911|12147838|11287838|10880371|10564169|10329428	INORGANIC_ANION_TRANSPORT;ESTABLISHMENT_OF_LOCALIZATION;ANION_TRANSPORT;TRANSPORT;ION_TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	INORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PHOSPHATE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES	
L	4	26719626	rs80050773	A	G	100	PASS	TBC1D19	TBC1 domain family, member 19	exonic	NM_001292054,NM_018317	.	synonymous SNV	TBC1D19:NM_001292054:exon11:c.A831G:p.K277K,TBC1D19:NM_018317:exon14:c.A1026G:p.K342K	ENST00000264866.4,ENST00000511789.1	.	4p15.2	.	.	.	.	.	rs80050773	.	.	0.0415282	0.0407	0.00978435	0.0003	0.0031	0.0242	0.035987730781	0.0396634307692	.	.	.	.	.	.	.	.	-0.334	0.261	.	.	AC=1;AN=2;BQB=0.5;DP4=1,1,1,4;DP=8;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.8;SF=20;SGB=-0.590765;VDB=0.724679	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:5:133,0,76	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	4	39271653	rs75621037	A	G	222	PASS	WDR19	WD repeat domain 19	exonic	NM_025132	.	missense SNV	WDR19:NM_025132:exon31:c.A3416G:p.Q1139R	ENST00000288634.7,ENST00000399820.3	.	4p14	.	.	.	.	.	rs75621037	.	.	0.0199336	0.0188	0.00379393	.	0.0019	0.0259	0.0199081568147	0.0204327165865	0.384,T	0.02,B	0.013,B	0.999999,D	0.000000,D	1.625,L	-0.02,T	15.573	2.076	9.081	2.427894,19.00	5.48	AC=2;AN=4;BQB=0.988233;DP4=16,6,16,7;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.111985;SF=13,20;SGB=-0.676189;VDB=0.646442	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:11:255,0,255	.	.	.	.	.	.	0/1:22:12:255,0,255	.	.	.	.	A	G	0	2	Nephronophthisis 13, 614377 (3); ?Cranioectodermal dysplasia 4, 614378 (3); ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3); Senior-Loken syndrome 8, 616307 (3)	.	.	.	23683095|23559409|22019273|19430947|12906858	.	.	.	.	.	.	.	
L	4	39408989	rs56130063	C	G	207	PASS	KLB	klotho beta	exonic	NM_175737	.	synonymous SNV	KLB:NM_175737:exon1:c.C420G:p.A140A	ENST00000257408.4	.	4p14	.	.	.	.	.	rs56130063	.	.	0.0282392	0.0278	0.00559105	7.7e-05	0.0022	0.0298	0.0283307846861	0.0300480725962	.	.	.	.	.	.	.	.	-0.749	-0.136	1.318662,12.37	.	AC=2;AN=4;BQB=0.316986;DP4=24,16,15,6;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.649086;SF=13,20;SGB=-0.662043;VDB=0.175096	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:9:226,0,255	.	.	.	.	.	.	0/1:28:12:255,0,255	.	.	.	.	C	G	0	2	Klotho, beta	.	.	.	17452648|16075061|11044614	.	.	.	.	PID_FGF_PATHWAY	.	REACTOME_NEGATIVE_REGULATION_OF_FGFR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_FRS2_MEDIATED_CASCADE;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_PI3K_CASCADE	
L	4	41615536	rs146605098	C	T	222	PASS	LIMCH1	LIM and calponin homology domains 1	exonic	NM_001112717,NM_001112718,NM_001112719,NM_001112720,NM_001289122,NM_001289124,NM_014988	.	synonymous SNV	LIMCH1:NM_001112719:exon2:c.C78T:p.I26I,LIMCH1:NM_001112720:exon2:c.C78T:p.I26I,LIMCH1:NM_001112717:exon7:c.C540T:p.I180I,LIMCH1:NM_001112718:exon7:c.C540T:p.I180I,LIMCH1:NM_001289122:exon7:c.C540T:p.I180I,LIMCH1:NM_001289124:exon7:c.C63T:p.I21I,LIMCH1:NM_014988:exon7:c.C540T:p.I180I	ENST00000381753.4,ENST00000513024.1,ENST00000313860.7,ENST00000503057.1,ENST00000512946.1,ENST00000509454.1,ENST00000509638.1,ENST00000511496.1,ENST00000508501.1,ENST00000509277.1,ENST00000512820.1,ENST00000396595.3,ENST00000514096.1,ENST00000512632.1	.	4p13	.	.	Score=850;Name=V$CDPCR1_01	.	.	rs146605098	.	.	0.0398671	0.0437	0.0091853	0.0004	0.0038	0.0484	0.0459418222052	0.0480769112981	.	.	.	1,D	.	.	.	0.3629	-0.786	-0.200	2.720303,20.9	.	AC=7;AN=14;BQB=0.682464;DP4=130,37,119,37;DP=466;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0278868;SF=1,8,9,11,14,20,22;SGB=-0.692562;VDB=0.0206695	GT:DP:DV:PL	.	0/1:47:22:255,0,255	.	.	.	.	.	.	0/1:43:19:255,0,255	0/1:53:28:255,0,255	.	0/1:59:30:255,0,255	.	.	0/1:51:24:255,0,255	.	.	.	.	.	0/1:44:22:255,0,255	.	0/1:26:11:255,0,255	.	.	C	T	0	7	.	.	.	.		.	.	.	.	.	.	.	
L	4	41984541	rs755822213	C	G	222	PASS	DCAF4L1	DDB1 and CUL4 associated factor 4-like 1	exonic	NM_001029955	.	synonymous SNV	DCAF4L1:NM_001029955:exon1:c.C732G:p.R244R	ENST00000333141.5	.	4p13	.	.	.	.	.	rs755822213	.	.	.	.	.	.	7.413e-05	0.0010	0.00142045	.	.	.	.	.	.	.	.	.	-0.326	0.167	0.985563,10.58	.	AC=1;AN=2;BQB=0.969829;DP4=42,25,32,26;DP=165;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0164399;SF=20;SGB=-0.693147;VDB=7.52027e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:125:58:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	4	44652018	rs377726440	G	A	184	PASS	YIPF7	Yip1 domain family, member 7	exonic	NM_182592	.	missense SNV	YIPF7:NM_182592:exon2:c.C172T:p.L58F	ENST00000415895.4,ENST00000332990.5	.	4p12	.	.	Score=814;Name=V$OCT1_01	.	.	rs377726440	.	.	0.00996678	0.0069	0.00159744	.	0.0005	0.0103	0.00996678	0.00996678	0.703,T	0.01,B	0.009,B	1,N	0.250279,N	1.2,L	0.97,T	2.8054	-0.522	-0.096	.	.	AC=1;AN=2;BQB=0.906029;DP4=8,2,7,1;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.566419;SF=20;SGB=-0.651104;VDB=0.378188	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:8:217,0,248	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	4	48549607	rs144142828	A	G	170	PASS	FRYL	FRY-like	exonic	NM_015030	.	missense SNV	FRYL:NM_015030:exon41:c.T5068C:p.F1690L	ENST00000507873.2,ENST00000264319.7,ENST00000358350.4,ENST00000503238.1,ENST00000537810.1	.	4p11	.	.	.	.	.	rs144142828	.	.	0.0498339	0.0437	0.00898562	0.0002	0.0037	0.0475	0.0498339	0.0408653927885	0.324,T	0.002,B	0.002,B	1,D	0.000042,N	0.41,N	1.86,T	9.558	0.369	5.758	.	2.97	AC=1;AN=2;BQB=0.951607;DP4=8,1,14,0;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.67781;SF=20;SGB=-0.686358;VDB=0.553255	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:14:203,0,197	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	4	54139984	.	G	A	130	PASS	SCFD2	sec1 family domain containing 2	splicing	NM_152540	NM_152540:exon4:c.1311+9C>T	.	.	ENST00000401642.3,ENST00000388940.4	.	4q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	2.692	.	.	AC=1;AN=2;BQB=0.828232;DP4=11,2,5,1;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.984733;SF=20;SGB=-0.616816;VDB=0.0328229	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:6:163,0,253	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	4	66280048	rs183969601	G	A	203	PASS	EPHA5	EPH receptor A5	exonic	NM_001281765,NM_001281766,NM_001281767,NM_004439,NM_182472	.	synonymous SNV	EPHA5:NM_001281765:exon7:c.C1641T:p.G547G,EPHA5:NM_001281766:exon7:c.C1641T:p.G547G,EPHA5:NM_001281767:exon7:c.C1641T:p.G547G,EPHA5:NM_004439:exon7:c.C1641T:p.G547G,EPHA5:NM_182472:exon7:c.C1641T:p.G547G	ENST00000511294.1,ENST00000354839.4,ENST00000432638.2,ENST00000273854.3	.	4q13.1	.	.	.	.	.	rs183969601	.	.	.	.	.	.	1.65e-05	0.0002	.	.	.	.	.	.	.	.	.	.	0.925	0.327	.	4.44	AC=1,1;AN=4;BQB=0.918304;DP4=19,10,19,3;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.562066;SF=13,20;SGB=-0.651104;VDB=0.0831545	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:19:8:217,.,.,0,.,255	.	.	.	.	.	.	0/1:32:14:255,0,255,.,.,.	.	.	.	.	G	A,T	0	2	Ephrin receptor EphA5	.	.	.	17448994|11804564|8145300|7898931|7528718|7504232	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE	PID_EPHA_FWDPATHWAY	.	.	
L	4	66280048	rs183969601	G	T	203	PASS	EPHA5	EPH receptor A5	exonic	NM_001281765,NM_001281766,NM_001281767,NM_004439,NM_182472	.	synonymous SNV	EPHA5:NM_001281765:exon7:c.C1641A:p.G547G,EPHA5:NM_001281766:exon7:c.C1641A:p.G547G,EPHA5:NM_001281767:exon7:c.C1641A:p.G547G,EPHA5:NM_004439:exon7:c.C1641A:p.G547G,EPHA5:NM_182472:exon7:c.C1641A:p.G547G	ENST00000511294.1,ENST00000354839.4,ENST00000432638.2,ENST00000273854.3	.	4q13.1	.	.	.	.	.	rs183969601	.	.	0.00498339	0.003	0.000599042	.	0.0003	0.0037	0.00535987906585	0.00480769432692	.	.	.	.	.	.	.	.	0.925	0.327	.	4.44	AC=1,1;AN=4;BQB=0.918304;DP4=19,10,19,3;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.562066;SF=13,20;SGB=-0.651104;VDB=0.0831545	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:19:8:217,.,.,0,.,255	.	.	.	.	.	.	0/1:32:14:255,0,255,.,.,.	.	.	.	.	G	A,T	0	2	Ephrin receptor EphA5	.	.	.	17448994|11804564|8145300|7898931|7528718|7504232	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE	PID_EPHA_FWDPATHWAY	.	.	
H	4	69094459	rs75647314	C	A	206.25	PASS	TMPRSS11B	transmembrane protease, serine 11B	splicing	NM_182502	NM_182502:exon9:c.1089+1G>T	.	.	ENST00000332644.5	.	4q13.2	.	.	.	.	.	rs75647314	.	.	0.0265781	0.0278	0.00559105	7.7e-05	0.0022	0.0290	0.0229709355283	0.0264423391827	.	.	.	1,D	.	.	.	9.5683	0.673	2.676	2.707148,20.8	2.87	AC=4;AN=8;BQB=0.826565;DP4=38,13,38,6;DP=132;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.845852;SF=0,4,7,20;SGB=-0.651104;VDB=0.405689	GT:DP:DV:PL	0/1:20:8:222,0,255	.	.	.	0/1:29:13:255,0,255	.	.	0/1:22:10:225,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:13:255,0,255	.	.	.	.	C	A	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	4	69342021	rs138883861	G	A	162.67	PASS	TMPRSS11E	transmembrane protease, serine 11E	exonic	NM_014058	.	missense SNV	TMPRSS11E:NM_014058:exon7:c.G572A:p.R191K	ENST00000305363.4	.	4q13.2	.	.	.	.	.	rs138883861	.	.	0.0498339	0.0466	0.0191693	0.0015	0.0099	0.0350	0.0428790160796	0.0432692521635	0.214,T	0.388,B	0.856,P	0.734502,N	0.000140,D	0,N	-0.01,T	13.5825	1.329	5.572	3.598620,23.2	4.71	AC=3;AN=6;BQB=0.673857;DP4=29,2,28,1;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.776754;SF=0,12,20;SGB=-0.670168;VDB=0.855481	GT:DP:DV:PL	0/1:18:10:190,0,196	.	.	.	.	.	.	.	.	.	.	.	0/1:17:9:182,0,155	.	.	.	.	.	.	.	0/1:25:10:215,0,249	.	.	.	.	G	A	0	3	Transmembrane protease, serine 11E	.	.	.	15328353|11161383	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
H	4	87556416	rs201697573	G	A	222	PASS	PTPN13	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	exonic	NM_006264,NM_080683,NM_080684,NM_080685	.	missense SNV	PTPN13:NM_006264:exon2:c.G7A:p.V3M,PTPN13:NM_080683:exon2:c.G7A:p.V3M,PTPN13:NM_080684:exon2:c.G7A:p.V3M,PTPN13:NM_080685:exon2:c.G7A:p.V3M	ENST00000411767.2,ENST00000316707.6,ENST00000427191.2,ENST00000436978.1,ENST00000502971.1,ENST00000511467.1	.	4q21.3	.	.	Score=910;Name=V$OCT1_02	.	.	rs201697573	.	.	0.00166113	0.001	0.000199681	8.2e-05	0.0004	0.0038	0.001531391317	0.00166113	0.001,D	1.0,D	1.0,D	0.999993,D	0.000316,D	2.805,M	1.41,T	14.4557	1.379	9.041	6.482369,30	4.81	AC=1;AN=2;BQB=0.927416;DP4=9,5,11,2;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992668;SF=20;SGB=-0.683931;VDB=0.856873	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	G	A	0	1	Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95 (Fas)-associated phosphatase)	.	.	.	15155950|12436199|8893825|8824809|8287977|8071359|7929060	BIOPOLYMER_METABOLIC_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	.	.	.	PID_FCER1PATHWAY;PID_EPHRINBREVPATHWAY	BIOCARTA_FAS_PATHWAY	.	PP3
L	4	88537249	rs371359066	T	C	54.65	PASS	DSPP	dentin sialophosphoprotein	exonic	NM_014208	.	synonymous SNV	DSPP:NM_014208:exon5:c.T3435C:p.S1145S	ENST00000506480.1,ENST00000282478.7,ENST00000399271.1	.	4q22.1	.	.	.	.	Score=528;Name="3409453:(CAG)n(Simple_repeat)"	rs371359066	.	.	.	.	.	.	0.0072	0.0463	.	.	.	.	.	.	.	.	.	.	0.134	-0.771	.	.	AC=6;AN=10;BQB=0.833333;DP4=6,6,10,6;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=38;MQB=0;MQSB=0.333333;RPB=0;SF=11,13,14,19,20;SGB=-0.511536;VDB=0.28399	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:5:3:98,0,6	.	0/1:6:4:105,0,50	1/1:2:2:60,6,0	.	.	.	.	0/1:7:4:99,0,17	0/1:8:3:71,0,114	.	.	.	.	T	C	1	4	Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420 (3)	.	.	.	22582013|22392858|18456718|17210923|15954904|15592686|14758537|12721295|12354781|11175790|11175779|11175770|11116156|10706475|9533027|8995371|8995371|7573043|2462619|2433419	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;COLLAGEN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	.	.	.	
L	4	88537258	rs776781347	T	C	61.93	PASS	DSPP	dentin sialophosphoprotein	exonic	NM_014208	.	synonymous SNV	DSPP:NM_014208:exon5:c.T3444C:p.S1148S	ENST00000506480.1,ENST00000282478.7,ENST00000399271.1	.	4q22.1	.	.	.	.	Score=528;Name="3409453:(CAG)n(Simple_repeat)"	rs776781347	.	.	.	.	.	.	0.0007	0.0038	.	0.0130435	.	.	.	.	.	.	.	.	-0.169	-3.820	.	.	AC=7;AN=12;BQB=0.810265;DP4=7,8,13,8;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.405132;MQSB=0;RPB=0.810265;SF=4,8,11,13,19,20;SGB=-0.556411;VDB=0.281254	GT:DP:DV:PL	.	.	.	.	0/1:7:4:100,0,34	.	.	.	1/1:3:3:113,9,0	.	.	0/1:7:4:89,0,27	.	0/1:5:3:117,0,53	.	.	.	.	.	0/1:6:4:78,0,16	0/1:8:3:71,0,128	.	.	.	.	T	C	1	5	Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420 (3)	.	.	.	22582013|22392858|18456718|17210923|15954904|15592686|14758537|12721295|12354781|11175790|11175779|11175770|11116156|10706475|9533027|8995371|8995371|7573043|2462619|2433419	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BONE_REMODELING;ANATOMICAL_STRUCTURE_DEVELOPMENT;TISSUE_REMODELING;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;COLLAGEN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	.	.	.	
L	4	89385130	rs78613619	G	C	152	PASS	HERC5	HECT and RLD domain containing E3 ubiquitin protein ligase 5	exonic	NM_016323	.	missense SNV	HERC5:NM_016323:exon6:c.G905C:p.C302S	ENST00000264350.3	.	4q22.1	.	.	.	.	.	rs78613619	.	.	0.0348837	0.0446	0.0163738	0.0005	0.0071	0.0460	0.0336906733538	0.0432692180288	0.0,D	0.997,D	1.0,D	0.995866,D	0.000001,D	2.855,M	-2.52,D	17.8931	2.625	8.494	6.083672,28.2	4.75	AC=1;AN=2;BQB=0.954207;DP4=6,4,2,3;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992528;SF=20;SGB=-0.590765;VDB=0.25494	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:5:185,0,255	.	.	.	.	G	C	0	1	HECT domain and RCC1-like domain 5	.	.	.	16815975|15676274|10581175	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;REGULATION_OF_TRANSFERASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;CELL_CYCLE_GO_0007049;REGULATION_OF_CELL_CYCLE	.	.	.	.	.	REACTOME_ANTIVIRAL_MECHANISM_BY_IFN_STIMULATED_GENES;REACTOME_INTERFERON_SIGNALING;REACTOME_NEGATIVE_REGULATORS_OF_RIG_I_MDA5_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	PP3
L	4	89589204	rs772623846	G	A	222	PASS	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	exonic	NM_001271602,NM_014606	.	synonymous SNV	HERC3:NM_001271602:exon13:c.G1251A:p.R417R,HERC3:NM_014606:exon14:c.G1605A:p.R535R	ENST00000264345.3,ENST00000543130.1,ENST00000402738.1	.	4q22.1	.	.	.	.	.	rs772623846	.	.	.	.	.	.	9.893e-05	0.0014	0.00426136	0.00434783	.	.	.	.	.	.	.	.	0.163	-0.146	0.940724,10.32	.	AC=1;AN=2;BQB=0.764228;DP4=11,4,11,9;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.467407;SF=20;SGB=-0.692067;VDB=0.0552353	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:20:255,0,255	.	.	.	.	G	A	0	1	HECT domain and RCC1-like domain 3	.	.	.	15676274|10516438|7584026	.	.	.	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	.	
L	4	90833131	rs139849307	A	G	222	PASS	MMRN1	multimerin 1	exonic	NM_007351	.	synonymous SNV	MMRN1:NM_007351:exon3:c.A780G:p.Q260Q	ENST00000394981.1,ENST00000394980.1,ENST00000264790.2,ENST00000508372.1	.	4q22.1	.	.	Score=781;Name=V$MEF2_03	.	.	rs139849307	.	.	0.00996678	0.0069	0.00139776	.	0.0005	0.0073	0.00842266434916	0.0108173155769	.	.	.	.	.	.	.	.	1.070	2.013	.	3.98	AC=1;AN=2;BQB=0.574537;DP4=9,11,8,3;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974548;SF=20;SGB=-0.676189;VDB=0.496362	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:11:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;BLOOD_COAGULATION;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;COAGULATION;RESPONSE_TO_WOUNDING	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
H	4	100443648	rs539341725	C	T	222	PASS	C4orf17	chromosome 4 open reading frame 17	splicing	NM_032149	NM_032149:exon3:c.128-9C>T	.	.	ENST00000503257.1,ENST00000326581.4,ENST00000514652.1	.	4q23	.	.	.	.	.	rs539341725	.	.	0.00166113	0.001	0.000199681	.	2.526e-05	0.0003	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.035	-0.087	.	.	AC=1;AN=2;BQB=0.970446;DP4=7,1,14,2;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.618783;SF=20;SGB=-0.689466;VDB=0.0271016	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:16:255,0,213	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	4	103822492	rs3974500	G	A	70	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	splicing	NM_139173	NM_139173:exon12:c.1333-3C>T	.	.	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	rs3974500	.	.	.	.	.	.	0.0029	0.0029	.	0.0956522	.	.	.	.	.	.	.	.	0.981	1.066	1.506343,13.35	2.22	AC=20;AN=40;BQB=0.338465;DP4=22,150,5,174;DP=388;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.0131237;MQSB=0.133333;RPB=0.730444;SF=0,1,2,3,4,5,6,7,10,11,12,13,15,16,17,20,21,22,23,24;SGB=-0.683931;VDB=0.000275866	GT:DP:DV:PL	0/1:17:13:128,0,129	0/1:20:13:116,0,158	0/1:7:4:79,0,74	0/1:22:10:113,0,199	0/1:20:11:102,0,160	0/1:18:14:141,0,102	0/1:14:9:103,0,129	0/1:11:5:92,0,120	.	.	0/1:25:13:121,0,224	0/1:14:6:108,0,172	0/1:11:5:82,0,120	0/1:20:12:140,0,168	.	0/1:20:10:117,0,183	0/1:18:8:86,0,196	0/1:9:4:91,0,109	.	.	0/1:22:9:92,0,159	0/1:24:12:126,0,180	0/1:13:5:72,0,222	0/1:19:7:92,0,247	0/1:27:9:66,0,255	G	A	0	20	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
L	4	103826685	rs77618489	T	A	34.61	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	exonic	NM_001100874,NM_139173	.	stopgain	SLC9B1:NM_001100874:exon11:c.A1318T:p.K440X,SLC9B1:NM_139173:exon11:c.A1318T:p.K440X	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	rs77618489	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	1,D	0.000000,D	.	.	11.3728	1.564	5.932	13.426549,42	3.47	AC=13;AN=26;BQB=0.997286;DP4=175,20,98,3;DP=384;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=0.0197636;MQSB=1;RPB=0.0197636;SF=0,2,5,6,7,10,15,16,18,19,20,21,23;SGB=-0.616816;VDB=0.0598975	GT:DP:DV:PL	0/1:22:6:58,0,250	.	0/1:14:7:61,0,180	.	.	0/1:19:9:72,0,174	0/1:25:9:86,0,255	0/1:21:5:59,0,255	.	.	0/1:28:9:64,0,255	.	.	.	.	0/1:28:8:57,0,247	0/1:26:8:70,0,255	.	0/1:24:8:70,0,255	0/1:20:9:70,0,220	0/1:31:10:70,0,255	0/1:22:7:81,0,255	.	0/1:16:6:81,0,213	.	T	A	0	13	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
L	4	103826757	.	T	C	44.7	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	exonic	NM_001100874,NM_139173	.	missense SNV	SLC9B1:NM_001100874:exon11:c.A1246G:p.T416A,SLC9B1:NM_139173:exon11:c.A1246G:p.T416A	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	.	.	.	.	.	.	.	.	.	.	0.026087	0.072,T	0.246,B	0.208,B	0.664367,D	0.000003,N	1.595,L	2.57,T	3.8532	0.514	3.031	.	2.27	AC=11;AN=22;BQB=0.983729;DP4=120,67,71,15;DP=412;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.00229059;MQSB=0.902552;RPB=0.920307;SF=2,5,6,7,10,15,16,18,20,21,23;SGB=-0.636426;VDB=0.131394	GT:DP:DV:PL	.	.	0/1:18:7:68,0,248	.	.	0/1:20:9:83,0,251	0/1:27:9:101,0,255	0/1:22:5:66,0,255	.	.	0/1:28:9:75,0,255	.	.	.	.	0/1:28:8:60,0,255	0/1:32:8:77,0,255	.	0/1:23:8:90,0,255	.	0/1:33:11:91,0,255	0/1:24:6:81,0,255	.	0/1:18:6:82,0,255	.	T	C	0	11	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
L	4	103826769	rs200075071	G	A	49.66	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	exonic	NM_001100874,NM_139173	.	stopgain	SLC9B1:NM_001100874:exon11:c.C1234T:p.R412X,SLC9B1:NM_139173:exon11:c.C1234T:p.R412X	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	rs200075071	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	1,A	0.000002,D	.	.	9.543	0.760	2.575	11.399338,37	2.61	AC=12;AN=24;BQB=0.965592;DP4=119,70,67,23;DP=423;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.00385331;MQSB=0.428674;RPB=0.965592;SF=2,5,6,7,10,15,16,17,18,20,21,23;SGB=-0.636426;VDB=0.0919121	GT:DP:DV:PL	.	.	0/1:16:7:75,0,214	.	.	0/1:20:9:91,0,255	0/1:26:9:104,0,255	0/1:21:5:68,0,255	.	.	0/1:26:9:89,0,255	.	.	.	.	0/1:28:8:60,0,255	0/1:30:8:82,0,255	0/1:16:3:57,0,255	0/1:23:8:90,0,255	.	0/1:31:11:114,0,255	0/1:24:7:100,0,255	.	0/1:18:6:82,0,255	.	G	A	0	12	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
L	4	103826788	rs201197585	T	G	50.85	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	exonic	NM_001100874,NM_139173	.	synonymous SNV	SLC9B1:NM_001100874:exon11:c.A1215C:p.L405L,SLC9B1:NM_139173:exon11:c.A1215C:p.L405L	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	rs201197585	.	.	.	.	.	.	.	.	.	0.0217391	.	.	.	.	.	.	.	.	0.253	0.575	.	2.59	AC=14;AN=28;BQB=0.777382;DP4=105,94,66,41;DP=453;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.00571605;MQSB=0.834543;RPB=0.571605;SF=2,5,6,7,10,14,15,16,17,18,19,20,21,23;SGB=-0.636426;VDB=0.109713	GT:DP:DV:PL	.	.	0/1:14:7:77,0,192	.	.	0/1:19:10:98,0,236	0/1:22:9:118,0,255	0/1:20:6:73,0,255	.	.	0/1:22:9:97,0,255	.	.	.	0/1:26:7:62,0,255	0/1:26:8:66,0,255	0/1:30:9:84,0,255	0/1:16:3:57,0,255	0/1:23:8:93,0,255	0/1:19:8:70,0,255	0/1:28:11:126,0,255	0/1:23:6:92,0,255	.	0/1:18:6:82,0,255	.	T	G	0	14	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
L	4	103826813	.	A	G	50	PASS	SLC9B1	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	splicing	NM_001100874,NM_139173	NM_001100874:exon11:c.1196-6T>C;NM_139173:exon11:c.1196-6T>C	.	.	ENST00000394789.3,ENST00000512651.2,ENST00000296422.7	.	4q24	.	.	.	Score=0.955275;Name=chr16:32375535	.	.	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	.	.	.	.	.	0.507	1.555	.	2.27	AC=14;AN=28;BQB=0.6821;DP4=73,100,30,67;DP=366;HOB=0.5;ICB=1;MQ0F=0;MQ=39;MQB=0.0194886;MQSB=0.931779;RPB=0.6821;SF=2,5,6,7,10,14,15,16,17,18,19,20,21,23;SGB=-0.590765;VDB=0.0537672	GT:DP:DV:PL	.	.	0/1:12:5:63,0,196	.	.	0/1:15:7:89,0,214	0/1:20:9:129,0,255	0/1:18:5:66,0,255	.	.	0/1:20:8:92,0,255	.	.	.	0/1:21:6:64,0,255	0/1:26:8:77,0,255	0/1:28:8:87,0,255	0/1:15:3:64,0,238	0/1:18:8:100,0,227	0/1:16:7:56,0,255	0/1:26:11:96,0,255	0/1:20:6:94,0,255	.	0/1:15:6:105,0,255	.	A	G	0	14	Na+/H+ exchanger domain-containing protein 1	.	.	.	16850186	.	.	.	.	.	.	.	
H	4	106158215	rs111678678	C	T	222	PASS	TET2	tet methylcytosine dioxygenase 2	exonic	NM_001127208,NM_017628	.	missense SNV	TET2:NM_001127208:exon3:c.C3116T:p.S1039L,TET2:NM_017628:exon3:c.C3116T:p.S1039L	ENST00000540549.1,ENST00000394764.1,ENST00000305737.2,ENST00000513237.1,ENST00000380013.4,ENST00000545826.1,ENST00000413648.2	.	4q24	.	.	.	.	.	rs111678678	CLINSIG=not provided;CLNDBN=not_specified;CLNACC=RCV000122129.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0315615	0.0258	0.00658946	0.0002	0.0016	0.0179	0.0199081330168	0.0264423413462	0.001,D	0.904,P	0.999,D	0.999784,D	0.557250,N	2.515,M	1.98,T	20.04	2.733	4.457	4.413888,24.1	5.79	AC=1;AN=2;BQB=0.828232;DP4=9,4,11,5;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.641163;SF=20;SGB=-0.689466;VDB=0.592232	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:16:255,0,255	.	.	.	.	C	T	0	1	Myelodysplastic syndrome, somatic, 614286 (3)	.	.	.	26287468|23812591|23563267|23395962|23223451|23222540|23001125|22902501|21817016|21778364|21057493|20639862|19483684|19474426|19420352|19372391|19262599|10997877	.	.	.	.	.	.	.	
H	4	109677657	rs150613655	A	G	222	PASS	ETNPPL	ethanolamine-phosphate phospho-lyase	splicing	NM_001146590,NM_001146627,NM_031279	NM_001146590:exon4:c.318-9T>C;NM_001146627:exon3:c.162-9T>C;NM_031279:exon4:c.336-9T>C	.	.	ENST00000510706.1,ENST00000296486.3,ENST00000512646.1,ENST00000411864.2	.	4q25	.	.	.	.	.	rs150613655	.	.	0.00498339	0.003	0.000599042	.	0.0003	0.0045	0.00535987906585	0.00721154540865	.	.	.	.	.	.	.	.	0.378	1.390	.	.	AC=1;AN=2;BQB=0.91805;DP4=6,8,10,4;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990545;SF=20;SGB=-0.686358;VDB=0.437172	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	.	.	A	G	0	1	Alanine-glyoxylate aminotransferase 2-like 1	.	.	.	22241472	.	.	.	.	.	.	.	
H	4	113479339	rs3762891	G	C	222	PASS	ZGRF1	zinc finger, GRF-type containing 1	exonic	NM_018392	.	missense SNV	ZGRF1:NM_018392:exon20:c.C5087G:p.S1696C	ENST00000505019.1	.	4q25	.	.	Score=703;Name=V$HOX13_01	.	.	rs3762891	.	.	0.0232558	0.0258	0.00559105	.	0.0028	0.0281	0.0290964664625	0.0228365199519	0.004,D	0.975,D	0.999,D	0.994387,D	0.000016,D	2.555,M	-1.57,D	19.8961	2.699	6.227	6.275472,29.0	5.73	AC=5;AN=10;BQB=0.878142;DP4=68,26,64,32;DP=266;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.200141;SF=14,15,16,19,20;SGB=-0.688148;VDB=0.0574695	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:15:255,0,255	0/1:37:22:255,0,255	0/1:45:21:255,0,255	.	.	0/1:40:18:255,0,255	0/1:36:20:255,0,255	.	.	.	.	G	C	0	5	.	.	.	.		.	.	.	.	.	.	.	PP3
L	4	123265643	.	T	C	155	PASS	KIAA1109	KIAA1109	exonic	NM_015312	.	synonymous SNV	KIAA1109:NM_015312:exon72:c.T12660C:p.G4220G	ENST00000388738.3,ENST00000264501.4	.	4q27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,D	.	.	.	5.5528	-0.444	-0.504	.	.	AC=1;AN=2;BQB=0.753577;DP4=3,5,5,2;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97357;SF=20;SGB=-0.636426;VDB=0.345209	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:7:188,0,204	.	.	.	.	T	C	0	1	KIAA1109 gene	.	.	.	20844206|19640479|17558408|10470851	.	.	.	.	.	.	.	PM2
H	4	123747944	rs201837669	G	A	221	PASS	FGF2	fibroblast growth factor 2 (basic)	exonic	NM_002006	.	missense SNV	FGF2:NM_002006:exon1:c.G14A:p.G5E	ENST00000264498.3	CpG: 127	4q27	.	.	.	.	.	rs201837669	.	.	0.00332226	0.002	0.000399361	.	0.0006	0.0028	0.00229708830015	0.00332226	0.0,D	0.0,B	0.001,B	.	.	0,N	-1.44,T	2.0852	-0.436	2.534	.	.	AC=1;AN=2;BQB=0.983592;DP4=3,1,8,4;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.479364;SF=20;SGB=-0.680642;VDB=0.104105	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:12:255,0,108	.	.	.	.	G	A	0	1	Fibroblast growth factor-2 (basic)	.	.	.	19366663|17314681|15951838|15289610|14770186|12843393|12815619|12799459|12669032|11158060|10830168|10772653|10490103|10373120|9687490|9576942|9323126|8558238|8548794|7852998|3780670|3741426|2435575|2425435|2320377|2265560|1543906	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ANATOMICAL_STRUCTURE_MORPHOGENESIS;BEHAVIOR;LOCOMOTORY_BEHAVIOR;ACTIVATION_OF_MAPK_ACTIVITY;RAS_PROTEIN_SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;RESPONSE_TO_CHEMICAL_STIMULUS;PROTEIN_KINASE_CASCADE;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;ANATOMICAL_STRUCTURE_DEVELOPMENT;RESPONSE_TO_EXTERNAL_STIMULUS;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_MELANOMA	PID_GLYPICAN_1PATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_FGF_PATHWAY	BIOCARTA_NFAT_PATHWAY	REACTOME_NEGATIVE_REGULATION_OF_FGFR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_ACTIVATED_POINT_MUTANTS_OF_FGFR2;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_ACTIVATED_POINT_MUTANTS_OF_FGFR1;REACTOME_SIGNALING_BY_FGFR3_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS;REACTOME_FRS2_MEDIATED_CASCADE;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION;REACTOME_FGFR2C_LIGAND_BINDING_AND_ACTIVATION;REACTOME_FGFR4_LIGAND_BINDING_AND_ACTIVATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_FGFR1_LIGAND_BINDING_AND_ACTIVATION;REACTOME_PI3K_CASCADE	
M	4	126398497	rs150505878	G	A	167.5	PASS	FAT4	FAT atypical cadherin 4	splicing	NM_001291285,NM_001291303,NM_024582	NM_001291285:exon13:c.12479+8G>A;NM_001291303:exon13:c.12479+8G>A;NM_024582:exon13:c.12473+8G>A	.	.	ENST00000394329.3,ENST00000335110.5	.	4q28.1	.	.	.	.	.	rs150505878	.	.	0.051495	0.0456	0.00938498	0.0004	0.0032	0.0435	0.0359877558959	0.0444711538462	0.618,T	0.0,B	0.0,B	1,N	.	.	-0.9,T	5.011	-0.178	0.571	.	.	AC=2;AN=4;BQB=0.399018;DP4=6,8,4,12;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.118442;SF=0,20;SGB=-0.651104;VDB=0.00350122	GT:DP:DV:PL	0/1:14:8:161,0,194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:8:240,0,216	.	.	.	.	G	A	0	2	Van Maldergem syndrome 2, 615546 (3); Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)	.	.	.	24913602|24056717|22473091|22469822|18604206|16865240|15003449|14564208|2624276	.	.	.	.	.	.	.	
L	4	126412443	rs201832398	A	G	222	PASS	FAT4	FAT atypical cadherin 4	exonic	NM_001291285,NM_001291303,NM_024582	.	synonymous SNV	FAT4:NM_001291285:exon17:c.A14469G:p.P4823P,FAT4:NM_001291303:exon17:c.A14472G:p.P4824P,FAT4:NM_024582:exon17:c.A14466G:p.P4822P	ENST00000394329.3,ENST00000335110.5	.	4q28.1	.	.	.	.	.	rs201832398	.	.	0.00498339	0.003	0.000599042	.	4.14e-05	0.0006	0.00498339	0.00498339	.	.	.	.	.	.	.	.	-0.710	-1.979	.	.	AC=1;AN=2;BQB=0.934465;DP4=16,6,9,8;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.132418;SF=20;SGB=-0.690438;VDB=0.842351	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:17:255,0,255	.	.	.	.	A	G	0	1	Van Maldergem syndrome 2, 615546 (3); Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)	.	.	.	24913602|24056717|22473091|22469822|18604206|16865240|15003449|14564208|2624276	.	.	.	.	.	.	.	
L	4	144618601	rs186244045	C	T	162.5	PASS	FREM3	FRAS1 related extracellular matrix 3	exonic	NM_001168235	.	synonymous SNV	FREM3:NM_001168235:exon1:c.G3228A:p.E1076E	ENST00000329798.5	.	4q31.21	.	.	.	.	.	rs186244045	.	.	0.0481728	0.0446	0.00898562	.	0.0008	0.0385	0.00710227	0.0408654069712	.	.	.	.	.	.	.	.	0.915	0.049	.	2.28	AC=2;AN=4;BQB=0.526752;DP4=19,8,12,3;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996401;SF=13,20;SGB=-0.662043;VDB=0.198714	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:9:229,0,255	.	.	.	.	.	.	0/1:17:6:162,0,242	.	.	.	.	C	T	0	2	FRAS1-related extracellular matrix protein 3	.	.	.	15345741	.	.	.	.	.	.	.	
H	4	148786087	.	A	G	165	PASS	ARHGAP10	Rho GTPase activating protein 10	exonic	NM_024605	.	missense SNV	ARHGAP10:NM_024605:exon6:c.A577G:p.K193E	ENST00000336498.3	.	4q31.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008,D	0.994,D	0.999,D	1,D	0.000000,D	2.675,M	3.66,T	14.9784	2.188	8.372	6.065301,28.1	5.71	AC=1;AN=2;BQB=0.9384;DP4=8,5,4,3;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.797045;SF=20;SGB=-0.636426;VDB=0.122391	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:7:198,0,255	.	.	.	.	A	G	0	1	RHO GTPase-activating protein 10	.	.	.	15471851|11432776	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	.	RAS_GTPASE_ACTIVATOR_ACTIVITY;GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;RHO_GTPASE_ACTIVATOR_ACTIVITY;GTPASE_ACTIVATOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_APOPTOSIS	PM2,PP3
L	4	154525138	rs36023829	A	G	222	PASS	KIAA0922	KIAA0922	exonic	NM_001131007,NM_015196	.	missense SNV	KIAA0922:NM_001131007:exon25:c.A2974G:p.T992A,KIAA0922:NM_015196:exon25:c.A2971G:p.T991A	ENST00000409663.3,ENST00000409959.3,ENST00000440693.1	.	4q31.3	.	.	.	.	.	rs36023829	.	.	0	.	0.0267572	0.0245	0.0394	0.0002	0.00142045	.	0.761,T	0.002,B	0.001,B	1,N	0.886630,N	-0.805,N	2.38,T	7.3454	-1.600	-1.707	.	.	AC=1;AN=2;BQB=0.726094;DP4=12,6,21,4;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.788537;SF=20;SGB=-0.692914;VDB=0.6516	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:25:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	4	154553901	rs202012559	T	G	86	PASS	KIAA0922	KIAA0922	exonic	NM_001131007,NM_015196	.	synonymous SNV	KIAA0922:NM_001131007:exon32:c.T4239G:p.T1413T,KIAA0922:NM_015196:exon32:c.T4236G:p.T1412T	ENST00000409663.3,ENST00000409959.3,ENST00000440693.1	.	4q31.3	.	.	Score=726;Name=V$PPARG_01	.	.	rs202012559	.	.	0.0265781	0.0188	0.00399361	.	0.0010	0.0129	0.0145482493415	0.0228365639423	.	.	.	.	.	.	.	.	-1.334	-0.660	.	.	AC=1;AN=2;BQB=0.946365;DP4=18,11,8,0;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99983;SF=20;SGB=-0.651104;VDB=0.68766	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:8:121,0,255	.	.	.	.	T	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	4	166996049	rs115925621	G	A	222	PASS	TLL1	tolloid-like 1	exonic	NM_012464	.	synonymous SNV	TLL1:NM_012464:exon17:c.G2208A:p.K736K	ENST00000061240.2,ENST00000507499.1	.	4q32.3	.	.	.	.	.	rs115925621	.	.	0.00166113	0.001	0.000199681	.	5.777e-05	0.0008	0.00166113	0.00166113	.	.	.	.	.	.	.	.	1.493	3.426	0.904348,10.10	4.75	AC=1;AN=2;BQB=0.471078;DP4=10,6,19,3;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998253;SF=20;SGB=-0.692562;VDB=0.0102297	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:22:255,0,255	.	.	.	.	G	A	0	1	Atrial septal defect 6, 613087 (3)	.	.	.	10516436|10479448|10331975|8661043	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
H	4	167012437	rs749812318	G	A	222	PASS	TLL1	tolloid-like 1	exonic	NM_012464	.	missense SNV	TLL1:NM_012464:exon19:c.G2600A:p.R867Q	ENST00000061240.2,ENST00000507499.1	.	4q32.3	.	.	Score=920;Name=V$FOXJ2_01	.	.	rs749812318	.	.	.	.	.	.	0.0001	0.0001	.	.	0.246,T	0.999,D	1.0,D	1,D	0.000000,U	1.56,L	1.3,T	19.2451	2.567	6.628	4.355679,24.1	5.43	AC=1;AN=2;BQB=0.978919;DP4=12,8,6,5;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.104305;SF=20;SGB=-0.676189;VDB=0.00252902	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:11:255,0,255	.	.	.	.	G	A	0	1	Atrial septal defect 6, 613087 (3)	.	.	.	10516436|10479448|10331975|8661043	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	4	169433489	rs761539565	G	A	222	PASS	PALLD	palladin, cytoskeletal associated protein	exonic	NM_001166108,NM_016081	.	synonymous SNV	PALLD:NM_001166108:exon2:c.G834A:p.R278R,PALLD:NM_016081:exon2:c.G834A:p.R278R	ENST00000505667.1,ENST00000261509.6,ENST00000335742.7,ENST00000333488.4	.	4q32.3	.	.	.	.	.	rs761539565	.	.	.	.	.	.	3.396e-05	0.0005	.	0.00434783	.	.	.	.	.	.	.	.	1.225	1.218	1.011595,10.73	3.24	AC=1;AN=2;BQB=0.998252;DP4=14,11,17,13;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875559;SF=20;SGB=-0.693097;VDB=0.22709	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:30:255,0,255	.	.	.	.	G	A	0	1	{Pancreatic cancer, susceptibility to, 1}, 606856 (3)	.	.	.	17415588|17194196|16175505|11598191|11309420|10931874|10231032	.	ORGANELLE_PART;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;ACTIN_FILAMENT;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	
H	4	173930407	rs201835999	G	C	222	PASS	GALNTL6	polypeptide N-acetylgalactosaminyltransferase-like 6	exonic	NM_001034845	.	missense SNV	GALNTL6:NM_001034845:exon11:c.G1450C:p.V484L	ENST00000508122.1,ENST00000506823.1	.	4q34.1	.	.	Score=729;Name=V$SEF1_C	.	.	rs201835999	.	.	0.00996678	0.0069	0.00139776	.	0.0006	0.0076	0.00842266434916	0.00961538588942	0.111,T	0.003,B	0.0,B	0.999394,D	0.003338,N	0.755,N	1.7,T	14.3088	1.412	2.491	2.581838,19.99	4.86	AC=2;AN=4;BQB=0.850768;DP4=10,7,14,12;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.673969;SF=19,20;SGB=-0.680642;VDB=0.00458124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:12:255,0,253	0/1:22:14:255,0,212	.	.	.	.	G	C	0	2	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	.	.	.	20977886	.	.	.	KEGG_O_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	4	184626187	rs79804817	G	A	211.4	PASS	TRAPPC11	trafficking protein particle complex 11	exonic	NM_021942,NM_199053	.	missense SNV	TRAPPC11:NM_021942:exon27:c.G3019A:p.V1007M,TRAPPC11:NM_199053:exon27:c.G3019A:p.V1007M	ENST00000334690.6,ENST00000357207.4,ENST00000512476.1	.	4q35.1	.	.	Score=923;Name=V$SREBP1_01	.	.	rs79804817	.	.	0.0332226	0.0288	0.00678914	0.0005	0.0039	0.0474	0.0375191562021	0.03365385	0.018,D	0.999,D	1.0,D	1,D	0.000217,D	2.215,M	.	18.1806	2.295	6.105	6.728327,32	4.94	AC=5;AN=10;BQB=0.532256;DP4=62,29,49,25;DP=236;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.60974;SF=4,5,18,20,22;SGB=-0.688148;VDB=0.0790378	GT:DP:DV:PL	.	.	.	.	0/1:36:15:255,0,255	0/1:40:14:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:16:255,0,255	.	0/1:42:22:255,0,255	.	0/1:10:7:204,0,98	.	.	G	A	0	5	Muscular dystrophy, limb-girdle, type 2S, 615356 (3)	.	.	.	23830518|21525244	.	.	.	.	.	.	.	PP3
L	4	185678840	rs74654630	G	A	162.5	PASS	ACSL1	acyl-CoA synthetase long-chain family member 1	exonic	NM_001286708,NM_001286710,NM_001286711,NM_001286712,NM_001995	.	synonymous SNV	ACSL1:NM_001286711:exon19:c.C1803T:p.L601L,ACSL1:NM_001286708:exon20:c.C1905T:p.L635L,ACSL1:NM_001286710:exon20:c.C1905T:p.L635L,ACSL1:NM_001995:exon20:c.C1905T:p.L635L,ACSL1:NM_001286712:exon21:c.C1392T:p.L464L	ENST00000281455.2,ENST00000504342.1,ENST00000454703.2,ENST00000513317.1,ENST00000507295.1,ENST00000437665.3,ENST00000515030.1	.	4q35.1	.	.	Score=943;Name=V$GATA2_01	.	.	rs74654630	.	.	0.0299003	0.0258	0.00698882	0.0004	0.0059	0.0385	0.0329249664625	0.0288461425481	.	.	.	.	.	.	.	.	-1.809	-1.564	.	.	AC=4;AN=8;BQB=0.961806;DP4=36,14,37,10;DP=118;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.775438;SF=0,2,15,20;SGB=-0.670168;VDB=0.780718	GT:DP:DV:PL	0/1:23:10:199,0,255	.	0/1:21:5:118,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:212,0,255	.	.	.	.	0/1:29:20:255,0,183	.	.	.	.	G	A	0	4	Acyl-CoA synthetase long-chain family member 1	.	.	.	17762044|7490105|2341402|1531127	DIGESTION	.	LIGASE_ACTIVITY	KEGG_FATTY_ACID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY;KEGG_PEROXISOME;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_TRIGLYCERIDE_BIOSYNTHESIS;REACTOME_ALPHA_LINOLENIC_ACID_ALA_METABOLISM;REACTOME_FATTY_ACYL_COA_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS	
L	5	422873	rs4987100	C	T	222	PASS	AHRR	aryl-hydrocarbon receptor repressor	exonic	NM_001242412,NM_020731	.	synonymous SNV	AHRR:NM_001242412:exon6:c.C483T:p.D161D,AHRR:NM_020731:exon6:c.C483T:p.D161D	ENST00000506456.1,ENST00000316418.5,ENST00000505113.1,ENST00000512529.1	.	5p15.33	.	.	Score=797;Name=V$POU3F2_01	.	.	rs4987100	.	.	0.0199336	0.0139	0.00279553	.	0.0010	0.0129	0.0199081568147	0.015625033774	.	.	.	.	.	.	.	.	0.973	1.256	1.446836,13.03	2.64	AC=1;AN=2;BQB=0.90931;DP4=14,10,12,8;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.904586;SF=20;SGB=-0.692067;VDB=0.172119	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:20:255,0,255	.	.	.	.	C	T	0	1	Arylhydrocarbon receptor repressor	.	.	.	18172554|11423533|11393538|10574462|9887096	.	.	.	.	.	.	.	
L	5	1034879	rs150082569	C	T	222	PASS	NKD2	naked cuticle homolog 2 (Drosophila)	exonic	NM_001271082,NM_033120	.	synonymous SNV	NKD2:NM_001271082:exon7:c.C435T:p.S145S,NKD2:NM_033120:exon7:c.C435T:p.S145S	ENST00000537972.1,ENST00000274150.4,ENST00000296849.5	.	5p15.33	.	.	Score=983;Name=V$P53_02	.	.	rs150082569	.	.	0.0398671	0.0377	0.00778754	.	0.0027	0.035	0.036753436294	0.0348557538462	.	.	.	.	.	.	.	.	0.840	0.423	.	3.51	AC=4;AN=8;BQB=0.711124;DP4=70,29,48,18;DP=240;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946915;SF=3,10,14,20;SGB=-0.676189;VDB=0.0231023	GT:DP:DV:PL	.	.	.	0/1:31:11:255,0,255	.	.	.	.	.	.	0/1:33:17:255,0,255	.	.	.	0/1:50:19:255,0,255	.	.	.	.	.	0/1:51:19:255,0,255	.	.	.	.	C	T	0	4	Naked cuticle, Drosophila, homolog of, 2	.	.	.	11604995|11356022	.	.	.	KEGG_WNT_SIGNALING_PATHWAY	PID_WNT_CANONICAL_PATHWAY	.	.	
L	5	1344537	rs201301704	G	A	222	PASS	CLPTM1L	CLPTM1-like	exonic	NM_030782	.	synonymous SNV	CLPTM1L:NM_030782:exon2:c.C192T:p.H64H	ENST00000320927.6,ENST00000320895.5	.	5p15.33	.	.	Score=706;Name=V$NRSF_01	.	.	rs201301704	.	.	0.00166113	0.001	0.000199681	.	1.684e-05	0.0002	0.00306278537519	0.00166113	.	.	.	.	.	.	.	.	0.989	0.472	.	2.64	AC=1;AN=2;BQB=0.596998;DP4=16,14,15,4;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.832593;SF=20;SGB=-0.69168;VDB=0.174328	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:19:255,0,255	.	.	.	.	G	A	0	1	CLPTM1-like protein	.	.	.	11162647	.	.	.	.	.	.	.	
L	5	5186217	rs777521397	G	A	151	PASS	ADAMTS16	ADAM metallopeptidase with thrombospondin type 1 motif, 16	exonic	NM_139056	.	synonymous SNV	ADAMTS16:NM_139056:exon5:c.G816A:p.K272K	ENST00000511368.1,ENST00000274181.7	.	5p15.32	.	.	.	.	.	rs777521397	.	.	.	.	.	.	1.656e-05	0.0002	0.00142045	.	.	.	.	.	.	.	.	.	0.026	0.325	.	.	AC=1;AN=2;BQB=0.813189;DP4=5,1,6,0;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.931779;SF=20;SGB=-0.616816;VDB=0.618859	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:6:184,0,180	.	.	.	.	G	A	0	1	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 16	.	.	.	19423552|11867212	.	.	.	.	.	.	.	
L	5	7867387	rs374174551	C	T	222	PASS	FASTKD3	FAST kinase domains 3	exonic	NM_024091	.	synonymous SNV	FASTKD3:NM_024091:exon2:c.G810A:p.V270V	ENST00000513658.1,ENST00000264669.5,ENST00000502509.1	.	5p15.31	.	.	.	.	.	rs374174551	.	.	0	0.001	0.000399361	.	4.143e-05	0.0005	.	.	.	.	.	.	.	.	.	.	-0.903	-1.286	1.211800,11.81	.	AC=1;AN=2;BQB=0.99864;DP4=12,8,11,10;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.674896;SF=20;SGB=-0.692352;VDB=0.159029	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:21:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	5	9066648	rs550944934	T	C	222	PASS	SEMA5A	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	exonic	NM_003966	.	synonymous SNV	SEMA5A:NM_003966:exon17:c.A2184G:p.R728R	ENST00000382496.5	.	5p15.31	.	.	Score=707;Name=V$PPARG_02	.	.	rs550944934	.	.	0.00166113	0.001	0.000199681	.	.	.	0.001531391317	0.00166113	.	.	.	.	.	.	.	.	-2.053	-7.384	.	.	AC=1;AN=2;BQB=0.644752;DP4=28,10,25,18;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990629;SF=20;SGB=-0.693146;VDB=0.543057	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:43:255,0,255	.	.	.	.	T	C	0	1	Semaphorin 5a	.	.	.	19812673|15603739|15218527|9464278|9049630|8817451	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	.	KEGG_AXON_GUIDANCE	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_OTHER_SEMAPHORIN_INTERACTIONS;REACTOME_SEMAPHORIN_INTERACTIONS	
H	5	10450076	rs772513245	C	T	222	PASS	ROPN1L	rhophilin associated tail protein 1-like	exonic	NM_001201466,NM_031916	.	missense SNV	ROPN1L:NM_031916:exon3:c.C268T:p.R90W,ROPN1L:NM_001201466:exon4:c.C268T:p.R90W	ENST00000510520.1,ENST00000503804.1,ENST00000274134.4	.	5p15.2	.	.	.	.	.	rs772513245	.	.	.	.	.	.	1.652e-05	0	.	.	0.017,D	0.613,P	0.97,D	1,N	0.653070,N	0.69,N	1.92,T	11.0412	-0.023	-0.641	3.060042,22.4	.	AC=1;AN=2;BQB=0.413808;DP4=15,2,8,4;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.714952;SF=20;SGB=-0.680642;VDB=0.322705	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:12:255,0,255	.	.	.	.	C	T	0	1	ROPN1-like protein	.	.	.	11278869	.	.	.	.	.	.	.	PM2
H	5	17275866	rs375359204	C	A	222	PASS	BASP1	brain abundant, membrane attached signal protein 1	exonic	NM_001271606,NM_006317	.	missense SNV	BASP1:NM_001271606:exon2:c.C541A:p.P181T,BASP1:NM_006317:exon2:c.C541A:p.P181T	ENST00000322611.3	CpG: 15	5p15.1	.	.	.	.	.	rs375359204	.	.	0.00332226	0.006	0.00119808	0.0002	0.0002	0.0021	0.0045941820827	0.0036057709375	0.007,D	0.478,P	0.616,P	0.99918,D	0.025328,U	1.79,L	0.05,T	11.3998	-0.271	0.070	2.459763,19.21	.	AC=1;AN=2;BQB=0.871721;DP4=19,6,21,9;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982863;SF=20;SGB=-0.693097;VDB=0.134995	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:30:255,0,255	.	.	.	.	C	A	0	1	Brain-abundant signal protein, membrane-attached, 1	.	.	.	10965107|9749536|9310187	.	MEMBRANE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;PLASMA_MEMBRANE	.	.	.	.	.	
L	5	21802485	rs112632478	C	A	222	PASS	CDH12	cadherin 12, type 2 (N-cadherin 2)	exonic	NM_001317227,NM_001317228,NM_004061	.	missense SNV	CDH12:NM_001317227:exon7:c.G1047T:p.E349D,CDH12:NM_001317228:exon7:c.G927T:p.E309D,CDH12:NM_004061:exon10:c.G1047T:p.E349D	ENST00000521384.1,ENST00000522262.1,ENST00000382254.1,ENST00000504376.2	.	5p14.3	.	.	.	.	.	rs112632478	.	.	0.00332226	0.006	0.0131789	0.0177	0.0061	0.0043	0.00229708830015	0.00721153788462	0.064,T	0.119,B	0.008,B	0.998693,D	0.000001,D	3.04,M	1.09,T	8.2938	0.293	-0.371	3.865878,23.5	.	AC=1;AN=2;BQB=0.980625;DP4=4,6,3,9;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.10795;SF=20;SGB=-0.680642;VDB=0.0481832	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:255,0,255	.	.	.	.	C	A	0	1	Cadherin-12 (N-cadherin 2)	.	.	.	10191097|7813013|7731968|7704025	.	.	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS;REACTOME_CELL_CELL_JUNCTION_ORGANIZATION;REACTOME_CELL_JUNCTION_ORGANIZATION	
L	5	23527721	rs201643800	C	A	221	PASS	PRDM9	PR domain containing 9	exonic	NM_001310214,NM_020227	.	missense SNV	PRDM9:NM_001310214:exon11:c.C2524A:p.R842S,PRDM9:NM_020227:exon11:c.C2524A:p.R842S	ENST00000296682.3	.	5p14.2	.	.	.	Score=0.927918;Name=chr16:90123418	.	rs201643800	.	.	.	.	.	.	.	.	.	.	1.0,T	0.005,B	0.002,B	1,N	.	0.165,N	3.18,T	0.5976	0.037	-0.820	.	.	AC=2;AN=4;BQB=0.997233;DP4=81,43,40,18;DP=276;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=0.616625;MQSB=0.176273;RPB=9.1158e-05;SF=6,20;SGB=-0.69311;VDB=0.0247094	GT:DP:DV:PL	.	.	.	.	.	.	0/1:96:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:86:27:255,0,255	.	.	.	.	C	A	0	2	PR domain-containing protein 9	.	.	.	22660327|21775986|20818382|20044541|20044539|20044538|20041164|19997497|19074312|16292313	.	.	.	.	.	.	REACTOME_MEIOSIS;REACTOME_MEIOTIC_RECOMBINATION	PM2
L	5	31495423	rs186407279	C	G	222	PASS	DROSHA	drosha, ribonuclease type III	exonic	NM_001100412,NM_013235	.	synonymous SNV	DROSHA:NM_001100412:exon11:c.G1614C:p.R538R,DROSHA:NM_013235:exon11:c.G1725C:p.R575R	ENST00000344624.3,ENST00000442743.1,ENST00000513349.1,ENST00000511367.2	.	5p13.3	.	.	Score=789;Name=V$CDP_01	.	.	rs186407279	.	.	0.00498339	0.004	0.000798722	.	0.0002	0.0027	0.00306278528331	0.00480769432692	.	.	.	1,D	.	.	.	6.0272	0.181	-0.158	1.417709,12.88	.	AC=1;AN=2;BQB=0.819184;DP4=19,3,8,5;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.963391;SF=20;SGB=-0.683931;VDB=0.0995058	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:13:255,0,255	.	.	.	.	C	G	0	1	Ribonuclease III, nuclear	.	.	.	22722852|20424607|19279350|19092150|18548003|16751099|15574589|15531877|14508493|12191433|10948199|10713462	.	.	.	.	PID_P53DOWNSTREAMPATHWAY	.	REACTOME_MICRORNA_MIRNA_BIOGENESIS;REACTOME_REGULATORY_RNA_PATHWAYS	
H	5	37000651	rs557147929	C	T	173	PASS	NIPBL	Nipped-B homolog (Drosophila)	exonic	NM_015384,NM_133433	.	missense SNV	NIPBL:NM_015384:exon12:c.C3481T:p.P1161S,NIPBL:NM_133433:exon12:c.C3481T:p.P1161S	ENST00000282516.8,ENST00000448238.2	.	5p13.2	.	.	.	.	.	rs557147929	CLINSIG=Uncertain significance;CLNDBN=not_provided;CLNACC=RCV000174414.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.00166113	0.002	0.000399361	.	6.601e-05	0.0009	0.00166113	0.00166113	0.054,T	0.647,P	0.965,D	1,D	0.000000,D	1.935,L	-3.19,D	20.0749	2.759	2.844	2.957713,22.1	5.81	AC=1;AN=2;BQB=0.879351;DP4=7,5,3,4;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.914584;SF=20;SGB=-0.636426;VDB=0.0247636	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:7:206,0,255	.	.	.	.	C	T	0	1	Cornelia de Lange syndrome 1, 122470 (3)	.	.	.	25173104|20720539|16802858|16799922|16770807|16682347|16100726|15318302|15146186|15146185|15060134|11391654|7554368	.	.	.	.	.	.	.	
H	5	37167198	rs764127814	C	T	164	PASS	C5orf42	chromosome 5 open reading frame 42	exonic	NM_023073	.	missense SNV	C5orf42:NM_023073:exon35:c.G7351A:p.V2451I	ENST00000425232.2,ENST00000274258.7,ENST00000508244.1	.	5p13.2	.	.	.	.	.	rs764127814	.	.	.	.	.	.	4.122e-05	0.0005	.	.	0.128,T	0.018,B	0.041,B	1,N	0.648950,N	0.975,L	1.8,T	5.0047	0.241	0.339	1.169653,11.59	.	AC=1;AN=2;BQB=0.47436;DP4=5,1,5,1;DP=16;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.982603;MQSB=1;RPB=0.931779;SF=20;SGB=-0.616816;VDB=0.813312	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:6:197,0,148	.	.	.	.	C	T	0	1	Joubert syndrome 17, 614615 (3); Orofaciodigital syndrome VI, 277170 (3)	.	.	.	24178751|23523602|22425360|5816874	.	.	.	.	.	.	.	
L	5	43174710	rs75565903	A	G	178.67	PASS	ZNF131	zinc finger protein 131	exonic	NM_001297548,NM_003432	.	synonymous SNV	ZNF131:NM_001297548:exon7:c.A1347G:p.L449L,ZNF131:NM_003432:exon8:c.A1245G:p.L415L	ENST00000509634.1,ENST00000505606.2,ENST00000399534.1,ENST00000306938.4,ENST00000509931.1,ENST00000509156.1	.	5p12	.	.	.	Score=0.911715;Name=chr6:145809689	.	rs75565903	.	.	0.0215947	0.0258	0.00519169	0.0002	0.0019	0.0225	0.0306278932619	0.0216346182692	.	.	.	.	.	.	.	.	-0.386	0.440	.	.	AC=3;AN=6;BQB=0.541994;DP4=24,11,18,7;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.241177;SF=2,7,20;SGB=-0.590765;VDB=0.22001	GT:DP:DV:PL	.	.	0/1:17:5:149,0,255	.	.	.	.	0/1:22:9:252,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:11:235,0,255	.	.	.	.	A	G	0	3	Zinc finger protein -31	.	.	.	23404503|8268908|7557990	.	.	.	.	.	.	.	
L	5	50124177	rs776650461	C	T	222	PASS	PARP8	poly (ADP-ribose) polymerase family, member 8	exonic	NM_001178055,NM_001178056,NM_024615	.	synonymous SNV	PARP8:NM_001178056:exon20:c.C1996T:p.L666L,PARP8:NM_024615:exon21:c.C2122T:p.L708L,PARP8:NM_001178055:exon22:c.C2122T:p.L708L	ENST00000505554.1,ENST00000514342.2,ENST00000281631.5,ENST00000505697.2,ENST00000503750.2,ENST00000511363.2,ENST00000514067.2	.	5q11.1	.	.	Score=789;Name=V$AHR_01	.	.	rs776650461	.	.	.	.	.	.	5.771e-05	0.0008	0.00142045	0.0217391	.	.	.	.	.	.	.	.	1.444	2.077	2.180493,17.38	4.91	AC=1;AN=2;BQB=0.54215;DP4=33,10,25,6;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.796927;SF=20;SGB=-0.69311;VDB=0.474274	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:31:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	5	52201745	rs140306833	T	C	114	PASS	ITGA1	integrin, alpha 1	splicing	NM_181501	NM_181501:exon12:c.1455+7T>C	.	.	ENST00000282588.6	.	5q11.2	.	.	.	.	.	rs140306833	.	.	0.00996678	0.0119	0.0103834	0.0002	0.0052	0.0103	0.00918836407351	0.0108173155769	.	.	.	.	.	.	.	.	-0.987	-0.415	.	.	AC=1;AN=2;BQB=0.992961;DP4=0,13,1,6;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.909394;SF=20;SGB=-0.636426;VDB=0.768686	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:7:147,0,157	.	.	.	.	T	C	0	1	Integrin, alpha-1	.	.	.	17603494|17377534|14558093|12000729|8428973|1427867	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;INTEGRIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	COLLAGEN_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	PID_PRLSIGNALINGEVENTSPATHWAY;PID_INTEGRIN1_PATHWAY;PID_INTEGRIN_CS_PATHWAY;PID_ARF6_TRAFFICKINGPATHWAY;PID_TCPTP_PATHWAY;PID_CXCR4_PATHWAY;PID_LYMPHANGIOGENESIS_PATHWAY	BIOCARTA_AGR_PATHWAY;BIOCARTA_SPPA_PATHWAY;BIOCARTA_BCELLSURVIVAL_PATHWAY;BIOCARTA_EPHA4_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MET_PATHWAY;BIOCARTA_UCALPAIN_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_MUSCLE_CONTRACTION;REACTOME_AXON_GUIDANCE;REACTOME_OTHER_SEMAPHORIN_INTERACTIONS;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SMOOTH_MUSCLE_CONTRACTION;REACTOME_L1CAM_INTERACTIONS	
H	5	52856502	rs185711494	G	C	222	PASS	NDUFS4	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	exonic	NM_002495	.	missense SNV	NDUFS4:NM_002495:exon1:c.G10C:p.V4L	ENST00000296684.5	.	5q11.2	.	.	Score=826;Name=V$YY1_02	.	.	rs185711494	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000200511.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.00664452	0.0069	0.00139776	.	0.0006	0.0084	0.00664452	0.00961538466346	0.36,T	0.016,B	0.018,B	0.996951,N	0.112014,N	1.935,L	-0.12,T	11.8425	1.588	0.553	2.655378,20.5	4.71	AC=1;AN=2;BQB=0.819384;DP4=18,3,11,6;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.834349;SF=20;SGB=-0.690438;VDB=0.33201	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:17:255,0,255	.	.	.	.	G	C	0	1	Leigh syndrome, 256000 (3); Mitochondrial complex I deficiency, 252010 (3)	.	.	.	24231806|24020637|19107570|14749350|12616398|11181577|10944442|10330338|9763677|9463323|8603710|1518044	SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;NERVOUS_SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;REGULATION_OF_PHOSPHORYLATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;MITOCHONDRION_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_CHEMICAL_STIMULUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;RESPONSE_TO_ORGANIC_SUBSTANCE;CAMP_MEDIATED_SIGNALING;REGULATION_OF_CELL_PROLIFERATION;CELLULAR_RESPIRATION	ORGANELLE_PART;ORGANELLE_INNER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NADH_DEHYDROGENASE_COMPLEX;ORGANELLE_MEMBRANE;ENVELOPE;MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I;ORGANELLE_ENVELOPE;MITOCHONDRIAL_INNER_MEMBRANE;MITOCHONDRIAL_RESPIRATORY_CHAIN;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE;RESPIRATORY_CHAIN_COMPLEX_I;PROTEIN_COMPLEX;MITOCHONDRIAL_MEMBRANE_PART	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	
H	5	59941388	rs575738459	C	T	181	PASS	DEPDC1B	DEP domain containing 1B	exonic	NM_001145208,NM_018369	.	missense SNV	DEPDC1B:NM_001145208:exon4:c.G509A:p.R170H,DEPDC1B:NM_018369:exon4:c.G509A:p.R170H	ENST00000545085.1,ENST00000265036.5,ENST00000453022.2	.	5q12.1	.	.	Score=690;Name=V$P53_01	.	.	rs575738459	.	.	0	.	0.000199681	.	1.65e-05	0	.	.	0.029,D	0.411,B	0.943,P	0.882785,D	0.002126,N	1.7,L	1.51,T	11.2702	2.857	3.085	6.028521,28.0	5.72	AC=1;AN=2;BQB=0.447194;DP4=9,1,4,3;DP=27;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.532719;SF=20;SGB=-0.636426;VDB=0.149064	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:7:214,0,255	.	.	.	.	C	T	0	1	DEP domain-containing protein 1B	.	.	.	24971537	.	.	.	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES	PM2
H	5	64447778	rs199907451	G	A	188	PASS	ADAMTS6	ADAM metallopeptidase with thrombospondin type 1 motif, 6	splicing	NM_197941	NM_197941:exon25:c.3245-6C>T	.	.	ENST00000314351.5	.	5q12.3	.	.	.	.	.	rs199907451	.	.	0.0116279	0.0089	0.00179712	.	0.0010	0.0133	0.00568182	0.0108173020433	.	.	.	.	.	.	.	.	-1.001	0.246	.	.	AC=1;AN=2;BQB=0.838046;DP4=11,5,6,3;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.697274;SF=20;SGB=-0.662043;VDB=0.523195	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:9:221,0,255	.	.	.	.	G	A	0	1	A disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 6	.	.	.	16129570|10464288	.	.	.	.	.	.	.	
H	5	68800090	rs576636804	G	C	222	PASS	OCLN	occludin	exonic	NM_001205254,NM_002538	.	missense SNV	OCLN:NM_001205254:exon2:c.G19C:p.E7Q,OCLN:NM_002538:exon2:c.G19C:p.E7Q	ENST00000538151.1,ENST00000380766.2,ENST00000542132.1,ENST00000355237.2,ENST00000396442.2	.	5q13.2	.	.	.	.	.	rs576636804	.	.	0.00166113	0.001	0.000199681	.	2.538e-05	0.0004	0.00166113	0.00166113	0.087,T	0.829,P	0.997,D	1,D	0.000008,D	1.7,L	-1.23,T	19.4436	2.894	6.722	4.972322,25.1	6.08	AC=2;AN=4;BQB=0.663818;DP4=13,17,14,9;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.598107;SF=11,20;SGB=-0.651104;VDB=0.060425	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:21:8:255,0,255	.	.	.	.	.	.	.	.	0/1:32:15:255,0,255	.	.	.	.	G	C	0	2	Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)	.	.	.	20727516|20152177|19182773|19174516|19012351|15761153|12468223|12419305|11102513|8601611	MACROMOLECULAR_COMPLEX_ASSEMBLY;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS	MEMBRANE;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_TGFBRPATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	
L	5	79616460	rs201315922	G	A	192	PASS	SPZ1	spermatogenic leucine zipper 1	exonic	NM_032567	.	synonymous SNV	SPZ1:NM_032567:exon1:c.G426A:p.Q142Q	ENST00000296739.4	.	5q14.1	.	.	.	.	.	rs201315922	.	.	0.00996678	0.0099	0.00199681	.	2.496e-05	0.0004	0.00996678	0.00841346449519	.	.	.	.	.	.	.	.	0.027	1.047	.	.	AC=2;AN=4;BQB=0.927743;DP4=11,3,17,6;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.967216;MQSB=0.932912;RPB=0.999479;SF=20,21;SGB=-0.688148;VDB=0.944964	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:15:255,0,153	0/1:14:8:196,0,178	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	5	79768604	rs200718663	C	G	218.5	PASS	ZFYVE16	zinc finger, FYVE domain containing 16	exonic	NM_001105251,NM_001284236,NM_014733	.	missense SNV	ZFYVE16:NM_014733:exon15:c.C4049G:p.P1350R,ZFYVE16:NM_001105251:exon16:c.C4049G:p.P1350R,ZFYVE16:NM_001284236:exon16:c.C4049G:p.P1350R	ENST00000338008.5,ENST00000510158.1,ENST00000505560.1	.	5q14.1	.	.	Score=813;Name=V$MEF2_01	.	.	rs200718663	.	.	0.00498339	0.003	0.000599042	.	0.0004	0.0058	0.00498339	0.00600961572115	0.021,D	0.989,D	0.996,D	1,D	0.000027,D	2.125,M	0.97,T	19.5343	2.713	3.396	6.268678,29.0	5.75	AC=2;AN=4;BQB=0.789232;DP4=16,4,11,7;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.507697;SF=2,20;SGB=-0.662043;VDB=0.0802296	GT:DP:DV:PL	.	.	0/1:16:9:248,0,203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:255,0,255	.	.	.	.	C	G	0	2	Zinc finger FYVE domain-containing protein 16	.	.	.	14613930|11546807	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;VACUOLAR_TRANSPORT;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;MACROMOLECULE_LOCALIZATION;LYSOSOMAL_TRANSPORT;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;REGULATION_OF_ENDOCYTOSIS;CELLULAR_LOCALIZATION;REGULATION_OF_TRANSPORT;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	.	LIPID_BINDING;PROTEIN_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;PHOSPHOINOSITIDE_BINDING	KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_BMPPATHWAY;PID_TGFBRPATHWAY	.	REACTOME_SIGNALING_BY_BMP	PP3
L	5	82834681	rs80028865	G	T	221	PASS	VCAN	versican	exonic	NM_001164097,NM_004385	.	synonymous SNV	VCAN:NM_001164097:exon7:c.G2898T:p.T966T,VCAN:NM_004385:exon8:c.G5859T:p.T1953T	ENST00000513016.1,ENST00000342785.4,ENST00000512090.1,ENST00000343200.5,ENST00000512590.2,ENST00000265077.3,ENST00000502527.2	.	5q14.3	.	.	Score=949;Name=V$AREB6_04	.	.	rs80028865	CLINSIG=Uncertain significance;CLNDBN=not_provided;CLNACC=RCV000154121.3;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.00664452	0.005	0.000998403	.	0.0004	0.0049	0.00918834260337	0.00600961771635	.	.	.	.	.	.	.	.	-0.445	-1.170	.	.	AC=1;AN=2;BQB=0.605228;DP4=20,4,9,4;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.878487;SF=20;SGB=-0.683931;VDB=0.573465	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:13:255,0,255	.	.	.	.	G	T	0	1	Wagner syndrome 1, 143200 (3)	.	.	.	22739342|21738396|19122641|17692555|16877430|16636652|16510447|16043844|12438652|12231358|11083865|8601689|8530092|7876137|7806529|7528742|2583089|2319589|1883201|1478664	MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_RECOGNITION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	CARBOHYDRATE_BINDING;POLYSACCHARIDE_BINDING;PATTERN_BINDING;GLYCOSAMINOGLYCAN_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS	PID_P53DOWNSTREAMPATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_TOLL_ENDOGENOUS_PATHWAY	.	REACTOME_CS_DS_DEGRADATION;REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_A_TETRASACCHARIDE_LINKER_SEQUENCE_IS_REQUIRED_FOR_GAG_SYNTHESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES	
H	5	90040856	.	C	G	161	PASS	ADGRV1	adhesion G protein-coupled receptor V1	splicing	NM_032119	NM_032119:exon51:c.10550-7C>G	.	.	ENST00000405460.2	.	5q14.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	-2.379	.	2.63	AC=1;AN=2;BQB=0.346719;DP4=2,1,6,0;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;MQSB=1;RPB=0.462292;SF=20;SGB=-0.616816;VDB=0.205815	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:6:195,0,78	.	.	.	.	C	G	0	1	Febrile seizures, familial, 4, 604352 (3); Usher syndrome, type 2C, 605472 (3); Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)	.	.	.	22147658|20440071|19357117|19357116|18854872|15820310|14740321|12402266|12095917|11606593|11545713|10976914|10234513|9734811|9598305	.	.	.	.	.	.	.	PM2
H	5	96130769	rs118132132	T	G	222	PASS	ERAP1	endoplasmic reticulum aminopeptidase 1	exonic	NM_001040458,NM_001198541,NM_016442	.	missense SNV	ERAP1:NM_001040458:exon5:c.A895C:p.I299L,ERAP1:NM_001198541:exon5:c.A895C:p.I299L,ERAP1:NM_016442:exon5:c.A895C:p.I299L	ENST00000443439.2,ENST00000296754.3	.	5q15	.	.	.	.	.	rs118132132	.	.	0.0116279	0.0069	0.00139776	0.0002	0.0010	0.0122	0.0114854289433	0.00961538064904	0.004,D	0.98,D	0.999,D	0.999998,D	0.000000,D	2.495,M	4.24,T	15.9979	2.252	7.530	5.463834,26.1	5.91	AC=1;AN=2;BQB=0.958048;DP4=13,1,8,2;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.958048;SF=20;SGB=-0.670168;VDB=0.279539	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:10:255,0,255	.	.	.	.	T	G	0	1	Endoplasmic reticulum aminopeptidase 1	.	.	.	16754858|16286653|15908954|12436110|12436109|12368856|12189246|11857741|11481040|11056387|10824104|10220586|9628581	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;ANGIOGENESIS;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;VASCULATURE_DEVELOPMENT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT	ORGANELLE_PART;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;ORGANELLE_LUMEN;ENDOPLASMIC_RETICULUM;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_LUMEN;ENDOPLASMIC_RETICULUM_PART	HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_BINDING;METALLOPEPTIDASE_ACTIVITY;EXOPEPTIDASE_ACTIVITY;METALLOEXOPEPTIDASE_ACTIVITY;RECEPTOR_BINDING;AMINOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;CYTOKINE_ACTIVITY;GROWTH_FACTOR_ACTIVITY	.	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	PP3
M	5	101735373	rs138283674	C	G	222	PASS	SLCO6A1	solute carrier organic anion transporter family, member 6A1	exonic	NM_001289002,NM_001289004,NM_001308014,NM_173488	.	missense SNV	SLCO6A1:NM_001308014:exon5:c.G941C:p.R314T,SLCO6A1:NM_001289004:exon9:c.G1514C:p.R505T,SLCO6A1:NM_001289002:exon10:c.G1700C:p.R567T,SLCO6A1:NM_173488:exon10:c.G1700C:p.R567T	ENST00000513675.1,ENST00000379807.3,ENST00000379810.1,ENST00000389019.3,ENST00000506729.1	.	5q21.1	.	.	.	.	.	rs138283674	.	.	0.0215947	0.0169	0.00339457	0.0005	0.0009	0.0120	0.0137825478407	0.018028856851	0.276,T	0.127,B	0.178,B	1,N	0.000255,N	-0.225,N	1.05,T	0.7926	-2.461	-2.018	.	.	AC=3;AN=6;BQB=0.826494;DP4=44,15,34,11;DP=144;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989616;SF=3,19,20;SGB=-0.691153;VDB=0.798852	GT:DP:DV:PL	.	.	.	0/1:41:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:12:255,0,255	0/1:33:15:255,0,255	.	.	.	.	C	G	0	3	Solute carrier organic anion transporter family, member 6A1	.	.	.	12677006	.	.	.	.	.	.	.	
L	5	111519760	rs111958355	T	C	222	PASS	EPB41L4A	erythrocyte membrane protein band 4.1 like 4A	exonic	NM_022140	.	synonymous SNV	EPB41L4A:NM_022140:exon18:c.A1575G:p.K525K	ENST00000261486.5,ENST00000507810.1	.	5q22.2	.	.	.	.	.	rs111958355	.	.	0.00664452	0.0109	0.0167732	0.0040	0.0096	0.0080	0.00459418199081	0.00664452	.	.	.	.	.	.	.	.	-0.060	1.222	.	.	AC=1;AN=2;BQB=0.989565;DP4=8,0,9,4;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968386;SF=20;SGB=-0.683931;VDB=0.449211	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:13:255,0,183	.	.	.	.	T	C	0	1	Erythrocyte membrane protein band 4.1-like 4A	.	.	.	10874211	.	.	.	.	.	.	.	
H	5	127664397	.	A	T	222	PASS	FBN2	fibrillin 2	exonic	NM_001999	.	missense SNV	FBN2:NM_001999:exon34:c.T4462A:p.S1488T	ENST00000508989.1,ENST00000508053.1,ENST00000507835.1,ENST00000262464.4	.	5q23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059,T	0.257,B	0.393,B	0.999977,D	0.000007,D	0.755,N	-2.92,D	15.4047	2.278	2.459	3.084775,22.5	5.14	AC=1;AN=2;BQB=0.882191;DP4=6,4,11,5;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.36331;SF=20;SGB=-0.689466;VDB=0.510842	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:16:255,0,255	.	.	.	.	A	T	0	1	Contractural arachnodactyly, congenital, 121050 (3); Macular degeneration, early-onset, 616118 (3)	.	.	.	24899048|20799338|12524050|12399449|10797416|10359653|9737771|9199560|9106527|8900230|8307578|8120105|7744963|7633409|7493032|1852206	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	.	.	.	.	PM2
H	5	129083941	.	G	A	222	PASS	KIAA1024L	KIAA1024-like	exonic	NM_001257308	.	missense SNV	KIAA1024L:NM_001257308:exon1:c.G58A:p.V20I	ENST00000564719.1,ENST00000503616.1	.	5q23.3	.	.	Score=937;Name=V$CREB_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	5.245	4.665147,24.5	3.73	AC=1;AN=2;BQB=0.999461;DP4=8,3,9,2;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.246128;SF=20;SGB=-0.676189;VDB=0.0579073	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	5	138260305	.	G	T	222	PASS	CTNNA1	catenin (cadherin-associated protein), alpha 1, 102kDa	exonic	NM_001290307,NM_001290309,NM_001290310,NM_001290312,NM_001903	.	synonymous SNV	CTNNA1:NM_001290312:exon6:c.G543T:p.R181R,CTNNA1:NM_001290309:exon11:c.G1344T:p.R448R,CTNNA1:NM_001290307:exon12:c.G1653T:p.R551R,CTNNA1:NM_001290310:exon12:c.G1284T:p.R428R,CTNNA1:NM_001903:exon12:c.G1653T:p.R551R	ENST00000518825.1,ENST00000302763.7,ENST00000540387.1,ENST00000355078.5	.	5q31.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.319	-0.234	1.083820,11.13	.	AC=1;AN=2;BQB=0.843019;DP4=18,13,16,12;DP=85;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.536666;SF=20;SGB=-0.693054;VDB=0.615571	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:28:255,0,255	.	.	.	.	G	T	0	1	Catenin (cadherin-associated protein), alpha 1, 102kD	.	.	.	22421363|20393555|17989230|17159988|16543460|11867572|11239416|10882138|8404069|8323564|8188230|7626889|7601473|1924379|1904011|1638632|1394201	.	.	CYTOSKELETAL_PROTEIN_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_PATHWAYS_IN_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_MET_PATHWAY;PID_ARF6_TRAFFICKINGPATHWAY;PID_NECTIN_PATHWAY;PID_CDC42_PATHWAY;PID_AJDISS_2PATHWAY;PID_ECADHERIN_NASCENTAJ_PATHWAY;PID_ECADHERIN_KERATINOCYTE_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_NCADHERINPATHWAY;PID_RAC1_PATHWAY	BIOCARTA_CELL2CELL_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS;REACTOME_CELL_CELL_JUNCTION_ORGANIZATION;REACTOME_CELL_JUNCTION_ORGANIZATION;REACTOME_MYOGENESIS	PM2
H	5	139884478	rs181178626	G	C	221.5	PASS	ANKHD1-EIF4EBP3,ANKHD1	ANKHD1-EIF4EBP3 readthrough	exonic	NM_017747,NM_020690	.	missense SNV	ANKHD1:NM_017747:exon16:c.G3077C:p.C1026S,ANKHD1-EIF4EBP3:NM_020690:exon16:c.G3077C:p.C1026S	ENST00000297183.6,ENST00000360839.2,ENST00000532219.1	.	5q31.3	.	.	.	.	.	rs181178626	.	.	0.0116279	0.0109	0.00239617	.	0.0013	0.0163	0.0168453162328	0.0156250069712	0.573,T	0.041,B	0.037,B	0.992742,D	0.000065,D	0.915,L	-0.18,T	18.7978	2.443	6.585	2.116007,16.96	5.22	AC=2;AN=4;BQB=0.966603;DP4=22,8,30,13;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.601788;SF=16,20;SGB=-0.692717;VDB=0.00633165	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:23:255,0,255	.	.	.	0/1:38:20:255,0,255	.	.	.	.	G	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	5	139936760	rs250426	G	A	223.32	PASS	SRA1	steroid receptor RNA activator 1	exonic	NM_001035235,NM_001253764	.	missense SNV	SRA1:NM_001253764:exon1:c.C278T:p.S93L	ENST00000520427.1,ENST00000336283.6	CpG: 43	5q31.3	.	.	.	.	.	rs250426	.	.	0.0398671	0.0347	0.00758786	.	0.0042	0.0438	0.0451761009188	0.0420673043269	.	.	.	.	.	.	.	.	-0.468	-1.790	2.000419,16.21	.	AC=3,44;AN=50;BQB=1;DP4=60,77,814,1065;DP=2822;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.127042	GT:DP:DV:PL	2/2:62:61:255,.,.,150,.,0	2/2:63:61:255,.,.,142,.,0	2/2:84:83:255,.,.,227,.,0	0/2:75:31:255,.,.,0,.,255	2/2:60:59:255,.,.,155,.,0	2/2:181:181:255,.,.,255,.,0	2/2:60:59:255,.,.,158,.,0	1/2:63:62:255,255,255,255,0,255	2/2:50:49:255,.,.,111,.,0	2/2:51:51:255,.,.,154,.,0	2/2:67:67:255,.,.,202,.,0	2/2:71:70:255,.,.,177,.,0	1/2:54:53:255,255,255,255,0,255	2/2:93:91:255,.,.,218,.,0	2/2:65:64:255,.,.,159,.,0	2/2:72:70:255,.,.,162,.,0	0/2:86:36:255,.,.,0,.,255	2/2:47:47:255,.,.,141,.,0	2/1:67:67:255,255,255,255,0,255	2/2:56:55:255,.,.,146,.,0	2/2:88:87:255,.,.,243,.,0	2/2:206:206:255,.,.,255,.,0	0/2:39:17:255,.,.,0,.,255	2/2:147:145:255,.,.,255,.,0	2/2:109:107:255,.,.,255,.,0	G	A,T	19	6	Steroid receptor RNA activator 1	.	.	.	17011493|10199399	CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;CELL_PROLIFERATION_GO_0008283;APOPTOSIS_GO	RIBONUCLEOPROTEIN_COMPLEX;NUCLEUS;MACROMOLECULAR_COMPLEX	.	.	PID_ERA_GENOMIC_PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_PPARA_PATHWAY	.	
H	5	140167463	rs3733710	C	G	224.47	PASS	PCDHA1	protocadherin alpha 1	exonic	NM_018900,NM_031410,NM_031411	.	missense SNV	PCDHA1:NM_018900:exon1:c.C1588G:p.L530V,PCDHA1:NM_031410:exon1:c.C1588G:p.L530V,PCDHA1:NM_031411:exon1:c.C1588G:p.L530V	ENST00000394633.3,ENST00000504120.2,ENST00000378133.3	CpG: 120	5q31.3	.	.	Score=872;Name=V$ZID_01	.	.	rs3733710	.	.	0.0182724	0.0169	0.00339457	.	0.0011	0.0149	0.0182724	0.0168269108173	0.086,T	0.844,P	0.995,D	0.999886,N	0.005687,U	0.145,N	0.15,T	7.6607	0.663	0.353	1.220766,11.86	.	AC=26,1;AN=38;BQB=0.261601;DP4=531,99,1349,279;DP=2958;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.797583;SF=0,1,3,4,5,6,8,9,11,12,13,14,16,18,19,20,21,23,24;SGB=-0.693147;VDB=0.00482182	GT:DP:DV:PL	1/1:125:125:255,255,0,.,.,.	1/1:132:132:255,255,0,.,.,.	.	0/2:131:68:255,.,.,0,.,255	0/1:105:58:255,0,255,.,.,.	1/1:112:112:255,255,0,.,.,.	1/1:128:128:255,255,0,.,.,.	.	0/1:107:58:255,0,255,.,.,.	0/1:89:45:255,0,255,.,.,.	.	0/1:131:62:255,0,255,.,.,.	0/1:100:47:255,0,255,.,.,.	0/1:137:66:255,0,255,.,.,.	1/1:118:118:255,255,0,.,.,.	.	1/1:149:149:255,255,0,.,.,.	.	0/1:117:63:255,0,255,.,.,.	0/1:131:60:255,0,255,.,.,.	1/1:129:129:255,255,0,.,.,.	1/1:142:142:255,255,0,.,.,.	.	0/1:83:35:255,0,255,.,.,.	0/1:92:31:255,0,255,.,.,.	C	T,G	8	11	Protocadherin-alpha 1	.	.	.	17172445|11230163|10380929	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
H	5	140250471	rs17844350	G	T	222	PASS	PCDHA11	protocadherin alpha 11	exonic	NM_018902,NM_031861	.	missense SNV	PCDHA11:NM_018902:exon1:c.G1783T:p.A595S,PCDHA11:NM_031861:exon1:c.G1783T:p.A595S	ENST00000527624.1,ENST00000506939.2,ENST00000394633.3,ENST00000307360.5,ENST00000504120.2,ENST00000525929.1,ENST00000532602.1,ENST00000529310.1,ENST00000526136.1,ENST00000531613.1,ENST00000529619.1,ENST00000530339.1,ENST00000522353.2,ENST00000529859.1,ENST00000398640.2,ENST00000512229.2	CpG: 138	5q31.3	.	.	.	.	.	rs17844350	.	.	0.0265781	0.0407	0.00958466	0.0008	0.0065	0.0434	0.0265781	0.0288461709135	0.008,D	0.967,D	0.998,D	1,D	.	3.705,H	0.1,T	13.6469	2.213	9.144	4.420287,24.2	4.78	AC=2;AN=4;BQB=0.992398;DP4=82,89,88,75;DP=448;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.313526;SF=16,20;SGB=-0.693147;VDB=0.000125847	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:152:79:255,0,255	.	.	.	0/1:182:84:255,0,255	.	.	.	.	G	T	0	2	Protocadherin-alpha 11	.	.	.	17172445|11230163|10380929	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
L	5	140557719	rs543214303	C	T	150	PASS	PCDHB8	protocadherin beta 8	exonic	NM_019120	.	missense SNV	PCDHB8:NM_019120:exon1:c.C104T:p.S35F	ENST00000239444.2	.	5q31.3	.	.	.	Score=0.922954;Name=chr5:140589724	.	rs543214303	.	.	0.0149502	0.0109	0.00219649	.	0.0010	0.0114	0.0149502	0.0149502	0.059,T	0.257,B	0.096,B	0.87429,D	.	2.74,M	1.22,T	11.8231	0.814	3.981	3.544690,23.1	3.47	AC=1;AN=2;BQB=0.878264;DP4=3,1,4,4;DP=20;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.594978;MQSB=0.0974428;RPB=0.310905;SF=20;SGB=-0.651104;VDB=0.736443	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:8:184,0,71	.	.	.	.	C	T	0	1	Protocadherin-beta 8	.	.	.	11230163|10380929	.	.	.	.	.	.	.	
L	5	140568874	rs574397776	C	G	221	PASS	PCDHB9	protocadherin beta 9	exonic	NM_019119	.	unknown	UNKNOWN	.	CpG: 84	5q31.3	.	.	Score=895;Name=V$NMYC_01	Score=0.953774;Name=chr5:140580569	.	rs574397776	.	.	0.00498339	0.004	0.000798722	.	0.0004	0.0050	0.00498339	0.00721154540865	.	.	.	.	.	.	.	.	-0.674	-6.371	.	.	AC=1;AN=2;BQB=0.839089;DP4=20,18,11,4;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.876539;MQSB=0.643692;RPB=0.99606;SF=20;SGB=-0.688148;VDB=0.110236	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:15:255,0,255	.	.	.	.	C	G	0	1	Protocadherin-beta 9	.	.	.	11322959|11230163|10380929	SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;SYNAPTIC_TRANSMISSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	.	.	.	.	.	
L	5	140594466	rs17844608	G	A	91.67	PASS	PCDHB13	protocadherin beta 13	exonic	NM_018933	.	synonymous SNV	PCDHB13:NM_018933:exon1:c.G771A:p.P257P	ENST00000341948.4	.	5q31.3	.	.	.	Score=0.922954;Name=chr5:140553661	.	rs17844608	.	.	.	.	.	.	0.0029	0.0079	.	0.0869565	.	.	.	.	.	.	.	.	-4.635	-10.698	1.148712,11.48	.	AC=9;AN=18;BQB=0.366673;DP4=365,291,32,167;DP=1110;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=4.33817e-09;MQSB=0.0389611;RPB=0.845684;SF=1,5,8,9,10,11,12,15,20;SGB=-0.689466;VDB=0.000372428	GT:DP:DV:PL	.	0/1:85:16:97,0,255	.	.	.	0/1:136:44:255,0,255	.	.	0/1:94:24:121,0,255	0/1:73:22:243,0,255	0/1:99:20:75,0,255	0/1:87:16:120,0,255	0/1:70:12:79,0,255	.	.	0/1:95:21:70,0,255	.	.	.	.	0/1:116:24:83,0,255	.	.	.	.	G	A	0	9	Protocadherin-beta 13	.	.	.	11230163|10380929	SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;SYNAPTIC_TRANSMISSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	.	.	.	.	.	
L	5	140594467	rs17844609	G	A	92.72	PASS	PCDHB13	protocadherin beta 13	exonic	NM_018933	.	missense SNV	PCDHB13:NM_018933:exon1:c.G772A:p.V258I	ENST00000341948.4	.	5q31.3	.	.	.	Score=0.922954;Name=chr5:140553661	.	rs17844609	.	.	.	.	.	.	0.0028	0.0079	.	0.0869565	0.618,T	0.012,B	0.001,B	1,N	.	0.225,N	5.09,T	7.1952	-1.766	-7.877	.	.	AC=9;AN=18;BQB=0.490128;DP4=362,286,33,164;DP=1100;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=3.89475e-09;MQSB=0.0437655;RPB=0.769939;SF=1,5,8,9,10,11,12,15,20;SGB=-0.689466;VDB=0.000360361	GT:DP:DV:PL	.	0/1:87:16:92,0,255	.	.	.	0/1:133:43:255,0,255	.	.	0/1:92:24:124,0,255	0/1:72:21:239,0,255	0/1:97:20:80,0,255	0/1:88:17:130,0,255	0/1:68:11:74,0,255	.	.	0/1:94:21:72,0,255	.	.	.	.	0/1:114:24:87,0,255	.	.	.	.	G	A	0	9	Protocadherin-beta 13	.	.	.	11230163|10380929	SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;SYNAPTIC_TRANSMISSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	.	.	.	.	.	
L	5	140594470	rs17844610	G	A	75.76	PASS	PCDHB13	protocadherin beta 13	exonic	NM_018933	.	missense SNV	PCDHB13:NM_018933:exon1:c.G775A:p.G259S	ENST00000341948.4	.	5q31.3	.	.	.	Score=0.922954;Name=chr5:140553661	.	rs17844610	.	.	.	.	.	.	0.0014	0.0045	.	0.0869565	0.014,D	0.391,B	0.116,B	1,N	.	3.12,M	3.65,T	7.4592	0.580	2.960	2.826695,21.5	2.62	AC=10;AN=20;BQB=0.0429608;DP4=396,322,35,174;DP=1203;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=3.89475e-09;MQSB=0.0437655;RPB=0.667932;SF=1,4,5,8,9,10,11,12,15,20;SGB=-0.689466;VDB=0.000360361	GT:DP:DV:PL	.	0/1:87:16:75,0,255	.	.	0/1:89:18:57,0,255	0/1:129:42:255,0,255	.	.	0/1:92:23:117,0,255	0/1:73:21:230,0,255	0/1:95:19:65,0,255	0/1:87:15:107,0,255	0/1:67:11:71,0,255	.	.	0/1:94:21:65,0,255	.	.	.	.	0/1:114:23:71,0,255	.	.	.	.	G	A	0	10	Protocadherin-beta 13	.	.	.	11230163|10380929	SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;SYNAPTIC_TRANSMISSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	.	.	.	.	.	
M	5	140742119	rs190493890	T	C	222	PASS	PCDHGB2	protocadherin gamma subfamily B, 2	exonic	NM_018923,NM_032096	.	missense SNV	PCDHGB2:NM_018923:exon1:c.T2417C:p.L806S,PCDHGB2:NM_032096:exon1:c.T2417C:p.L806S	ENST00000571252.1,ENST00000523390.1,ENST00000517417.1,ENST00000522605.1,ENST00000394576.2,ENST00000253812.6	.	5q31.3	.	.	.	.	.	rs190493890	.	.	0.00664452	0.004	0.000798722	.	0.0005	0.0070	0.00842266444104	0.00841346879808	0.746,T	0.002,B	0.003,B	1,N	.	0.69,N	0.84,T	10.8594	-0.212	0.022	.	.	AC=1;AN=2;BQB=0.896649;DP4=9,11,7,5;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.528813;SF=20;SGB=-0.680642;VDB=0.0452232	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:12:255,0,255	.	.	.	.	T	C	0	1	Protocadherin-gamma, subfamily B, member 2	.	.	.	11230163|10380929	.	.	.	.	.	.	.	
L	5	140783206	rs377402370	T	C	222	PASS	PCDHGA9	protocadherin gamma subfamily A, 9	exonic	NM_018921,NM_032089	.	synonymous SNV	PCDHGA9:NM_018921:exon1:c.T687C:p.H229H,PCDHGA9:NM_032089:exon1:c.T687C:p.H229H	ENST00000519479.1,ENST00000571252.1,ENST00000576222.1,ENST00000523390.1,ENST00000517417.1,ENST00000517434.1,ENST00000522605.1,ENST00000398604.2,ENST00000518069.1,ENST00000573521.1,ENST00000394576.2,ENST00000253812.6,ENST00000518325.1	.	5q31.3	.	.	.	.	.	rs377402370	.	.	0	0.001	0.000199681	.	0.0003	0.0038	0.00284091	.	.	.	.	.	.	.	.	.	-2.705	-8.928	.	.	AC=2;AN=4;BQB=0.421195;DP4=111,34,107,31;DP=409;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.133577;SF=13,20;SGB=-0.693147;VDB=0.483	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:144:70:255,0,255	.	.	.	.	.	.	0/1:139:68:255,0,255	.	.	.	.	T	C	0	2	Protocadherin-gamma, subfamily A, member 9	.	.	.	11230163|10380929	.	.	.	.	.	.	.	
L	5	140802519	rs759618535	C	T	222	PASS	PCDHGA11	protocadherin gamma subfamily A, 11	exonic	NM_018914,NM_032091,NM_032092	.	synonymous SNV	PCDHGA11:NM_018914:exon1:c.C1725T:p.G575G,PCDHGA11:NM_032091:exon1:c.C1725T:p.G575G,PCDHGA11:NM_032092:exon1:c.C1725T:p.G575G	ENST00000519479.1,ENST00000571252.1,ENST00000576222.1,ENST00000523390.1,ENST00000517417.1,ENST00000517434.1,ENST00000522605.1,ENST00000398610.2,ENST00000398587.2,ENST00000398604.2,ENST00000518069.1,ENST00000520790.1,ENST00000398594.2,ENST00000573521.1,ENST00000394576.2,ENST00000253812.6,ENST00000518882.1,ENST00000518325.1	CpG: 40	5q31.3	.	.	.	.	.	rs759618535	.	.	.	.	.	.	8.275e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-3.307	-8.948	.	.	AC=1;AN=2;BQB=0.237288;DP4=39,14,35,20;DP=153;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.717827;SF=20;SGB=-0.693147;VDB=0.732678	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:108:55:255,0,255	.	.	.	.	C	T	0	1	Protocadherin-gamma, subfamily A, member 11	.	.	.	11230163|10380929	.	.	.	.	.	.	.	
L	5	142513543	rs367794102	C	T	222	PASS	ARHGAP26	Rho GTPase activating protein 26	exonic	NM_001135608,NM_015071	.	synonymous SNV	ARHGAP26:NM_001135608:exon19:c.C1710T:p.T570T,ARHGAP26:NM_015071:exon19:c.C1710T:p.T570T	ENST00000274498.4,ENST00000378004.3	.	5q31.3	.	.	.	.	.	rs367794102	.	.	.	.	.	7.7e-05	5.847e-05	0.0005	.	.	.	.	.	1,D	.	.	.	2.6297	-1.658	-5.057	1.941620,15.85	.	AC=1;AN=2;BQB=0.705182;DP4=18,7,17,6;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.984732;SF=20;SGB=-0.692717;VDB=0.968436	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	C	T	0	1	Leukemia, juvenile myelomonocytic, somatic, 607785 (3)	.	.	.	11432776|10908648|9734811|8649427	.	.	.	.	PID_FAK_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES	
H	5	145439455	rs189156768	T	C	222	PASS	SH3RF2	SH3 domain containing ring finger 2	exonic	NM_152550	.	missense SNV	SH3RF2:NM_152550:exon9:c.T1582C:p.S528P	ENST00000511217.1,ENST00000359120.4,ENST00000511705.1	.	5q32	.	.	.	.	.	rs189156768	.	.	0.00830565	0.0089	0.00179712	0.0002	0.0005	0.0067	0.00612557330781	0.00830565	0.103,T	0.006,B	0.001,B	1,N	0.286914,N	2.205,M	2.21,T	4.1528	0.235	0.120	1.136821,11.41	2.49	AC=1;AN=2;BQB=0.899581;DP4=17,4,20,6;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.949793;SF=20;SGB=-0.692976;VDB=0.656998	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:26:255,0,255	.	.	.	.	T	C	0	1	SH3 domain-containing RING finger protein 2	.	.	.	20220755|19945436	.	.	.	.	.	.	.	
L	5	145665545	.	T	C	148	PASS	RBM27	RNA binding motif protein 27	exonic	NM_018989	.	synonymous SNV	RBM27:NM_018989:exon21:c.T3135C:p.D1045D	ENST00000506502.1,ENST00000265271.5	.	5q32	.	.	Score=797;Name=V$OCT1_04	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.185	-0.245	.	.	AC=1;AN=2;BQB=0.581345;DP4=5,3,4,3;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898397;SF=20;SGB=-0.636426;VDB=0.895085	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:7:181,0,245	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	5	146889104	.	G	C	222	PASS	DPYSL3	dihydropyrimidinase-like 3	exonic	NM_001197294	.	synonymous SNV	DPYSL3:NM_001197294:exon1:c.C318G:p.A106A	ENST00000343218.5	CpG: 102	5q32	.	.	Score=887;Name=V$AP2_Q6	.	Score=25;Name="3818457:GC_rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.536	-0.964	1.107491,11.26	.	AC=1;AN=2;BQB=0.430955;DP4=9,6,7,4;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885548;SF=20;SGB=-0.676189;VDB=0.072651	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:11:255,0,255	.	.	.	.	G	C	0	1	Dihydropyrimidinase-like 3	.	.	.	23568759|10748015|9115293|8973361|8551352	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_CRMPS_IN_SEMA3A_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS	PM2
L	5	149515380	rs17708515	G	A	222	PASS	PDGFRB	platelet-derived growth factor receptor, beta polypeptide	exonic	NM_002609	.	synonymous SNV	PDGFRB:NM_002609:exon3:c.C102T:p.V34V	ENST00000261799.4	.	5q32	.	.	Score=902;Name=V$PAX3_01	.	.	rs17708515	.	.	0.0614618	0.0516	0.0349441	0.0030	0.0195	0.0288	0.0528330563553	0.0564903997596	.	.	.	.	.	.	.	.	0.241	0.882	1.951962,15.91	.	AC=6;AN=12;BQB=0.826749;DP4=192,122,160,98;DP=794;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986847;SF=8,10,14,20,22,24;SGB=-0.693147;VDB=0.135604	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:94:49:255,0,255	.	0/1:93:36:255,0,255	.	.	.	0/1:124:54:255,0,255	.	.	.	.	.	0/1:107:44:255,0,255	.	0/1:38:21:255,0,255	.	0/1:116:54:255,0,255	G	A	0	6	Myeloproliferative disorder with eosinophilia, 131440 (4); Basal ganglia calcification, idiopathic, 4, 615007 (3); Myofibromatosis, infantile, 1, 228550 (3); Premature aging syndrome, Penttinen type, 601812 (3); Kosaki overgrowth syndrome, 616592 (3)	.	.	.	26279204|25454926|23731542|23731537|23720404|23255827|21107323|20944627|20944625|19506901|19006078|18997771|18373705|16790706|16790699|15054839|14593398|14502277|12542482|12181402|11919393|11239463|9616134|9373237|9211853|9056558|8973913|8563749|8168137|3107886|3052279|3020426|2996133|2850496|2846185|2835772|2676841|2536956	SIGNAL_TRANSDUCTION	.	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_FOCAL_ADHESION;KEGG_GAP_JUNCTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA	PID_PTP1BPATHWAY;PID_INTEGRIN3_PATHWAY;PID_S1P_S1P3_PATHWAY;PID_NECTIN_PATHWAY;PID_TCPTP_PATHWAY;PID_SHP2_PATHWAY;PID_S1P_S1P1_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_PDGFRBPATHWAY;PID_MYC_REPRESSPATHWAY	.	REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION	
L	5	149932822	rs140123575	C	T	222	PASS	NDST1	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	exonic	NM_001301063,NM_001543	.	synonymous SNV	NDST1:NM_001301063:exon14:c.C2406T:p.L802L,NDST1:NM_001543:exon15:c.C2577T:p.L859L	ENST00000261797.6,ENST00000523767.1,ENST00000521752.1	.	5q33.1	.	.	Score=715;Name=V$NRSF_01	.	.	rs140123575	.	.	0.0431894	0.0377	0.00758786	7.7e-05	0.0026	0.0356	0.037519181317	0.0384615730769	.	.	.	.	.	.	.	.	-0.067	-0.185	2.105169,16.89	.	AC=3;AN=6;BQB=0.97671;DP4=67,28,55,24;DP=233;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998718;SF=16,18,20;SGB=-0.693054;VDB=0.262654	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:28:255,0,255	.	0/1:41:21:255,0,255	.	0/1:72:30:255,0,255	.	.	.	.	C	T	0	3	Mental retardation, autosomal recessive 46, 616116 (3)	.	.	.	25125150|21937992|11087757|10664446|8838814|8563749|7601448	SULFUR_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;PROTEOGLYCAN_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	.	.	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	
H	5	150584981	rs114290039	C	G	222	PASS	CCDC69	coiled-coil domain containing 69	exonic	NM_015621	.	missense SNV	CCDC69:NM_015621:exon2:c.G104C:p.G35A	ENST00000355417.2,ENST00000521308.1	.	5q33.1	.	.	.	.	.	rs114290039	.	.	0.0215947	0.0218	0.00459265	0.0002	0.0027	0.0242	0.0298621719755	0.0240384776442	0.112,T	0.196,B	0.496,P	1,N	0.200186,N	1.04,L	1.75,T	4.3269	0.378	0.064	2.187070,17.42	.	AC=2;AN=4;BQB=0.992509;DP4=21,8,23,4;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980341;SF=20,22;SGB=-0.689466;VDB=0.160587	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:16:255,0,255	.	0/1:19:11:255,0,223	.	.	C	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	5	151775036	rs543652529	G	A	222	PASS	NMUR2	neuromedin U receptor 2	exonic	NM_020167	.	synonymous SNV	NMUR2:NM_020167:exon3:c.C921T:p.L307L	ENST00000255262.3	.	5q33.1	.	.	.	.	.	rs543652529	.	.	0.00498339	0.003	0.000599042	.	0.0003	0.0023	0.00306278528331	0.00480769432692	.	.	.	.	.	.	.	.	0.390	-0.181	.	.	AC=1;AN=2;BQB=0.998031;DP4=10,3,12,5;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.62921;SF=20;SGB=-0.690438;VDB=0.722021	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:17:255,0,255	.	.	.	.	G	A	0	1	Neuromedin U receptor 2	.	.	.	10899166|10894543	REGULATION_OF_BIOLOGICAL_QUALITY;REGULATION_OF_HYDROLASE_ACTIVITY;SYSTEM_DEVELOPMENT;G_PROTEIN_SIGNALING_COUPLED_TO_IP3_SECOND_MESSENGERPHOSPHOLIPASE_C_ACTIVATING;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;DI___TRI_VALENT_INORGANIC_CATION_TRANSPORT;SECRETORY_PATHWAY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;CALCIUM_MEDIATED_SIGNALING;BEHAVIOR;CALCIUM_ION_TRANSPORT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;FEEDING_BEHAVIOR;METAL_ION_TRANSPORT;NEUROPEPTIDE_SIGNALING_PATHWAY;CELLULAR_CATION_HOMEOSTASIS;PHOSPHOINOSITIDE_MEDIATED_SIGNALING;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;SECRETION;REGULATION_OF_CATALYTIC_ACTIVITY;SECOND_MESSENGER_MEDIATED_SIGNALING;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;CELLULAR_LOCALIZATION;ION_HOMEOSTASIS;CATION_TRANSPORT;CATION_HOMEOSTASIS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;INTRACELLULAR_SIGNALING_CASCADE;SYSTEM_PROCESS;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	GTP_BINDING;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;NEUROPEPTIDE_BINDING;GATED_CHANNEL_ACTIVITY;NEUROPEPTIDE_RECEPTOR_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;PEPTIDE_BINDING;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;ANION_CHANNEL_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;PEPTIDE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;GUANYL_NUCLEOTIDE_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;CHLORIDE_CHANNEL_ACTIVITY;ION_CHANNEL_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
L	5	154291414	rs141972048	T	C	183.5	PASS	GEMIN5	gem (nuclear organelle) associated protein 5	exonic	NM_001252156,NM_015465	.	synonymous SNV	GEMIN5:NM_001252156:exon15:c.A2037G:p.G679G,GEMIN5:NM_015465:exon15:c.A2040G:p.G680G	ENST00000285873.7	.	5q33.2	.	.	.	.	.	rs141972048	.	.	0.0365449	0.0317	0.00658946	0.0002	0.0020	0.0254	0.0260337379786	0.0360577257212	.	.	.	.	.	.	.	.	0.859	0.400	.	4.27	AC=2;AN=4;BQB=0.802111;DP4=11,29,14,15;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.058074;SF=9,20;SGB=-0.662043;VDB=0.0941654	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:28:9:179,0,255	.	.	.	.	.	.	.	.	.	.	0/1:41:20:255,0,255	.	.	.	.	T	C	0	2	GEM-associated protein 5	.	.	.	16857593|11714716	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS_AND_ASSEMBLY;RNA_PROCESSING;CELLULAR_COMPONENT_ASSEMBLY;MRNA_PROCESSING_GO_0006397;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RNA_SPLICINGVIA_TRANSESTERIFICATION_REACTIONS;MRNA_METABOLIC_PROCESS;RNA_SPLICING	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_BODY;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART	RNA_BINDING	.	.	.	REACTOME_METABOLISM_OF_NON_CODING_RNA;REACTOME_METABOLISM_OF_RNA	
L	5	156479568	rs10068551	C	T	111.57	PASS	HAVCR1	hepatitis A virus cellular receptor 1	exonic	NM_001173393,NM_001308156,NM_012206	.	synonymous SNV	HAVCR1:NM_012206:exon3:c.G477A:p.T159T,HAVCR1:NM_001173393:exon4:c.G477A:p.T159T,HAVCR1:NM_001308156:exon4:c.G477A:p.T159T	ENST00000544197.1,ENST00000522693.1,ENST00000523175.1,ENST00000425854.1,ENST00000339252.3	.	5q33.3	.	.	.	.	.	rs10068551	.	.	0	.	0.0139776	.	0.0070	0	0.00142045	0.00869565	.	.	.	.	.	.	.	.	-2.013	-2.659	1.184489,11.67	.	AC=13;AN=26;BQB=0.708618;DP4=158,182,29,99;DP=541;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=2.64424e-05;SF=0,2,3,4,8,9,11,14,15,18,20,21,24;SGB=-0.670168;VDB=8.31707e-06	GT:DP:DV:PL	0/1:36:10:156,0,255	.	0/1:46:13:177,0,255	0/1:42:7:84,0,255	0/1:24:7:134,0,255	.	.	.	0/1:30:8:131,0,255	0/1:29:10:151,0,255	.	0/1:35:9:132,0,255	.	.	0/1:35:13:179,0,255	0/1:38:11:173,0,255	.	.	0/1:28:7:107,0,255	.	0/1:42:11:143,0,255	0/1:46:11:163,0,255	.	.	0/1:37:11:163,0,255	C	T	0	13	{Atopy, resistance to}, 147050 (3)	.	Hepatitis A-induced acute liver failure, susceptibility to, association with(CI112194)	GACTGTT^157CCAatgacaacgactgttccaATGACGACTG|c.459_476dup18(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21339644&dopt=Abstract)	21339644|20566714|18414680|18294362|17960135|17363299|16284246|15793576|15793575|15153541|14534576|11905816|11725301|9658108	.	.	.	.	.	.	.	PS3
H	5	156479572	rs2862716	A	G	211.72	PASS	HAVCR1	hepatitis A virus cellular receptor 1	exonic	NM_001173393,NM_001308156,NM_012206	.	missense SNV	HAVCR1:NM_012206:exon3:c.T473C:p.M158T,HAVCR1:NM_001173393:exon4:c.T473C:p.M158T,HAVCR1:NM_001308156:exon4:c.T473C:p.M158T	ENST00000544197.1,ENST00000522693.1,ENST00000523175.1,ENST00000425854.1,ENST00000339252.3	.	5q33.3	.	.	.	.	.	rs2862716	.	.	.	.	.	.	9.057e-05	0.0017	0.0184659	0.0434783	0.935,T	.	.	1,N	.	.	2.61,T	1.0652	-2.668	-0.843	.	.	AC=29;AN=30;BQB=0.388407;DP4=28,30,64,146;DP=349;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0696263;SF=0,1,2,3,4,8,9,11,14,15,18,19,20,21,24;SGB=-0.683931;VDB=0.45831	GT:DP:DV:PL	1/1:13:13:252,39,0	0/1:66:8:61,0,255	1/1:18:18:255,54,0	1/1:14:14:255,42,0	1/1:11:11:255,33,0	.	.	.	1/1:12:12:255,36,0	1/1:12:12:255,36,0	.	1/1:16:16:255,48,0	.	.	1/1:22:22:255,66,0	1/1:12:12:255,36,0	.	.	1/1:12:12:240,36,0	1/1:10:10:233,30,0	1/1:18:18:255,54,0	1/1:18:18:255,54,0	.	.	1/1:14:14:255,42,0	A	G	14	1	{Atopy, resistance to}, 147050 (3)	.	.	.	20566714|18414680|18294362|17960135|17363299|16284246|15793576|15793575|15153541|14534576|11905816|11725301|9658108	.	.	.	.	.	.	.	
L	5	173534349	rs201959171	T	C	222	PASS	HMP19	HMP19 protein	exonic	NM_015980	.	synonymous SNV	HMP19:NM_015980:exon5:c.T357C:p.A119A	ENST00000303177.3,ENST00000521585.1,ENST00000521959.1	.	5q35.2	.	.	.	.	.	rs201959171	.	.	0.00996678	0.0089	0.00179712	.	0.0005	0.0058	0.00612557595712	0.00996678	.	.	.	.	.	.	.	.	-2.843	-1.479	.	.	AC=1;AN=2;BQB=0.826189;DP4=25,6,28,5;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.275673;SF=20;SGB=-0.693127;VDB=0.392892	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:33:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	5	175533585	rs62389255	C	T	135.34	PASS	FAM153B	family with sequence similarity 153, member B	exonic	NM_001265615	.	missense SNV	FAM153B:NM_001265615:exon15:c.C623T:p.P208L	ENST00000510151.1,ENST00000253490.4,ENST00000512862.1,ENST00000515817.1	.	5q35.2	.	.	.	Score=0.991368;Name=chr5:177133498	.	rs62389255	.	.	.	.	.	.	0.0494	0.0275	.	0.321739	0.618,T	0.003,B	0.185,B	1,N	.	.	.	0.0998	-2.008	-1.918	1.777829,14.86	.	AC=19;AN=38;BQB=0.571419;DP4=665,217,298,99;DP=1778;HOB=0.5;ICB=1;MQ0F=0;MQ=48;MQB=2.21595e-08;MQSB=0.903697;RPB=0.99972;SF=0,1,2,4,6,7,8,9,10,13,14,17,18,19,20,21,22,23,24;SGB=-0.689466;VDB=0.0062008	GT:DP:DV:PL	0/1:63:16:163,0,255	0/1:60:15:121,0,255	0/1:71:28:255,0,255	.	0/1:58:13:126,0,255	.	0/1:69:20:180,0,255	0/1:75:29:242,0,255	0/1:70:31:213,0,255	0/1:54:10:101,0,255	0/1:76:23:227,0,255	.	.	0/1:70:20:157,0,255	0/1:59:11:116,0,255	.	.	0/1:53:11:88,0,255	0/1:68:21:193,0,255	0/1:58:18:151,0,255	0/1:67:19:170,0,255	0/1:89:33:237,0,255	0/1:45:10:84,0,255	0/1:100:47:255,0,255	0/1:74:22:152,0,255	C	T	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	5	175665522	rs866802577	T	A	45.53	PASS	SIMC1	SUMO-interacting motifs containing 1	exonic	NM_001308195,NM_198567	.	missense SNV	SIMC1:NM_001308195:exon1:c.T11A:p.F4Y,SIMC1:NM_198567:exon1:c.T11A:p.F4Y	ENST00000341199.6,ENST00000430704.2,ENST00000429602.2,ENST00000443967.1	CpG: 88	5q35.2	.	.	.	Score=0.978528;Name=chr5:177047794	.	rs866802577	.	.	.	.	.	.	.	.	0.00852273	0.0565217	0.0,D	0.953,D	0.968,D	1,D	.	.	1.49,T	5.9744	1.167	2.233	.	.	AC=5;AN=10;BQB=0.104168;DP4=168,47,51,18;DP=380;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=6.16553e-07;MQSB=0.107637;RPB=0.869938;SF=3,12,15,18,20;SGB=-0.688148;VDB=0.0163693	GT:DP:DV:PL	.	.	.	0/1:66:15:66,0,255	.	.	.	.	.	.	.	.	0/1:51:10:60,0,255	.	.	0/1:52:16:106,0,255	.	.	0/1:60:15:81,0,255	.	0/1:55:13:92,0,255	.	.	.	.	T	A	0	5	.	.	.	.		.	.	.	.	.	.	.	
H	5	176070640	rs750550082	G	T	222	PASS	EIF4E1B	eukaryotic translation initiation factor 4E family member 1B	exonic	NM_001099408	.	missense SNV	EIF4E1B:NM_001099408:exon5:c.G201T:p.R67S	ENST00000318682.6,ENST00000504597.1	.	5q35.2	.	.	.	.	.	rs750550082	.	.	.	.	.	.	0.0001	0.0015	0.00142045	0.00434783	0.013,D	0.271,B	0.206,B	0.999932,D	0.000001,N	1.1,L	1.02,T	6.8536	0.607	1.004	4.310710,24.0	2.51	AC=2;AN=4;BQB=0.945646;DP4=46,24,49,21;DP=197;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.10628;SF=6,20;SGB=-0.693127;VDB=0.60929	GT:DP:DV:PL	.	.	.	.	.	.	0/1:60:33:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:37:255,0,255	.	.	.	.	G	T	0	2	.	.	.	.		.	.	.	KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	.	
H	5	176477835	rs199731522	C	G	222	PASS	ZNF346	zinc finger protein 346	exonic	NM_001308213,NM_001308214,NM_001308218,NM_012279	.	missense SNV	ZNF346:NM_001308218:exon2:c.C307G:p.Q103E,ZNF346:NM_001308214:exon4:c.C505G:p.Q169E,ZNF346:NM_012279:exon5:c.C601G:p.Q201E,ZNF346:NM_001308213:exon6:c.C676G:p.Q226E	ENST00000506693.1,ENST00000358149.3,ENST00000503039.1,ENST00000503425.1,ENST00000512315.1,ENST00000511834.1,ENST00000261948.4	.	5q35.2	.	.	Score=763;Name=V$TCF11MAFG_01	.	.	rs199731522	.	.	0	.	0.000199681	0.0003	0.0001	0.0005	0.00142045	.	0.087,T	0.194,B	0.321,B	1,N	0.004879,N	1.41,L	2.07,T	9.4038	1.265	2.666	0.968697,10.48	3.46	AC=1;AN=2;BQB=0.825367;DP4=15,6,17,5;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999705;SF=20;SGB=-0.692562;VDB=0.702192	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:22:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		RNA_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROGRAMMED_CELL_DEATH;RNA_PROCESSING;APOPTOSIS_GO	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	RNA_BINDING;DOUBLE_STRANDED_RNA_BINDING	.	.	.	.	
H	5	176518037	rs55675160	A	G	222	PASS	FGFR4	fibroblast growth factor receptor 4	exonic	NM_001291980,NM_002011,NM_022963,NM_213647	.	missense SNV	FGFR4:NM_022963:exon4:c.A535G:p.T179A,FGFR4:NM_001291980:exon5:c.A535G:p.T179A,FGFR4:NM_002011:exon5:c.A535G:p.T179A,FGFR4:NM_213647:exon5:c.A535G:p.T179A	ENST00000292408.4,ENST00000393648.2,ENST00000502906.1,ENST00000292410.3,ENST00000393637.1	.	5q35.2	.	.	Score=784;Name=V$PAX5_02	.	.	rs55675160	.	.	0.0398671	0.0377	0.00798722	.	0.0029	0.0372	0.036753436294	0.0384615290865	0.053,T	0.186,B	0.525,P	0.99998,N	0.495531,N	0.99,L	-0.25,T	6.8879	0.830	1.956	.	3.56	AC=2;AN=4;BQB=0.759274;DP4=33,44,27,25;DP=163;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.647788;SF=6,20;SGB=-0.69311;VDB=0.563111	GT:DP:DV:PL	.	.	.	.	.	.	0/1:73:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:21:255,0,255	.	.	.	.	A	G	0	2	{Cancer progression/metastasis} (3)	.	.	.	19809159|11830541|10373120|9457674|7959747|1847508|1720539|1709094|1385111|1377018|1322355	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_FGF_PATHWAY	.	REACTOME_NEGATIVE_REGULATION_OF_FGFR_SIGNALING;REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR_MUTANTS;REACTOME_FRS2_MEDIATED_CASCADE;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_SHC_MEDIATED_CASCADE;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_FGFR_LIGAND_BINDING_AND_ACTIVATION;REACTOME_FGFR4_LIGAND_BINDING_AND_ACTIVATION;REACTOME_SIGNALING_BY_FGFR;REACTOME_PI3K_CASCADE	
L	5	176964875	rs760584311	G	A	222	PASS	FAM193B	family with sequence similarity 193, member B	exonic	NM_001190946	.	synonymous SNV	FAM193B:NM_001190946:exon3:c.C687T:p.P229P	ENST00000443375.2,ENST00000514747.1,ENST00000508298.1,ENST00000329540.5	.	5q35.3	.	.	.	.	.	rs760584311	.	.	.	.	.	.	0.0001	0.0008	.	.	.	.	.	.	.	.	.	.	-1.668	-0.843	1.106585,11.25	.	AC=1;AN=2;BQB=0.899416;DP4=12,1,8,8;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965977;SF=20;SGB=-0.689466;VDB=0.0612098	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:16:255,0,250	.	.	.	.	G	A	0	1	Family with sequence similarity 193, member B	.	.	.	21177767|11572484	.	.	.	.	.	.	.	
H	5	178040718	rs770920359	T	C	222	PASS	CLK4	CDC-like kinase 4	splicing	NM_020666	NM_020666:exon6:c.659+10A>G	.	.	ENST00000316308.4	.	5q35.3	.	.	Score=884;Name=V$NKX3A_01	.	.	rs770920359	.	.	.	.	.	.	8.241e-06	0.0001	.	.	.	.	.	.	.	.	.	.	0.024	0.231	.	.	AC=1;AN=2;BQB=0.814042;DP4=15,6,14,7;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.886643;SF=20;SGB=-0.692352;VDB=0.125851	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:21:255,0,255	.	.	.	.	T	C	0	1	CDC-like kinase 4	.	.	.	11170754	.	.	.	.	.	.	.	
L	5	179193538	.	G	C	222	PASS	MAML1	mastermind-like transcriptional coactivator 1	exonic	NM_014757	.	synonymous SNV	MAML1:NM_014757:exon2:c.G1527C:p.V509V	ENST00000503050.1,ENST00000292599.3	.	5q35.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.386	2.994	.	4.27	AC=1;AN=2;BQB=0.561642;DP4=36,19,32,15;DP=137;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0184242;SF=20;SGB=-0.693147;VDB=0.0973792	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:47:255,0,255	.	.	.	.	G	C	0	1	Mastermind, Drosophila, homolog of, 1	.	.	.	19907488|17699740|16510869|11101851|8724849	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;NOTCH_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_NOTCH	PM2
H	6	7580346	rs184154918	G	A	222	PASS	DSP	desmoplakin	exonic	NM_004415	.	missense SNV	DSP:NM_004415:exon23:c.G3923A:p.R1308Q	ENST00000418664.2,ENST00000379802.3	.	6p24.3	.	.	Score=864;Name=V$GRE_C	.	.	rs184154918	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000154711.3;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0166113	0.0159	0.00319489	7.7e-05	0.0012	0.0165	0.017611023124	0.0166113	0.174,T	0.091,B	0.804,P	1,N	0.000018,D	1.1,L	-2.94,D	12.965	2.495	3.628	1.834440,15.19	5.27	AC=1;AN=2;BQB=0.865668;DP4=19,11,14,8;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.942985;SF=20;SGB=-0.692562;VDB=0.0211632	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:22:255,0,255	.	.	.	.	G	A	0	1	Keratosis palmoplantaris striata II, 612908 (3); Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome, 607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)	.	.	.	23137101|22795705|20940358|20738328|20613772|20302578|16917092|16628197|16467215|16175511|12373648|12366696|11841538|11781569|11278896|11063735|9887343|9417921|9229116|8769422|7693716|2247105|1889810|1731325|1689290|1601988	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;KERATINOCYTE_DIFFERENTIATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;EPIDERMIS_DEVELOPMENT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	CORNIFIED_ENVELOPE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;PROTEIN_BINDING_BRIDGING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_AJDISS_2PATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	
L	6	12123538	rs34258344	G	T	222	PASS	HIVEP1	human immunodeficiency virus type I enhancer binding protein 1	exonic	NM_002114	.	missense SNV	HIVEP1:NM_002114:exon4:c.G3510T:p.K1170N	ENST00000379388.2	.	6p24.1	.	.	.	.	.	rs34258344	.	.	0.0249169	0.0248	0.0499201	0.0498	0.0421	0.0303	0.0321592595712	0.0288461127404	0.19,T	0.293,B	0.893,P	1,P	0.212431,N	2.33,M	1.55,T	9.5099	0.089	0.614	0.932124,10.27	2.02	AC=2;AN=4;BQB=0.761223;DP4=34,25,39,29;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999245;SF=12,20;SGB=-0.693079;VDB=0.433447	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:29:255,0,255	.	.	.	.	.	.	.	0/1:69:39:255,0,255	.	.	.	.	G	T	0	2	Human immunodeficiency virus type I enhancer-binding protein-1	.	.	.	9417921|2037300	.	NUCLEUS	DNA_BINDING	.	.	.	.	
L	6	12164612	rs1042054	C	G	221.5	PASS	HIVEP1	human immunodeficiency virus type I enhancer binding protein 1	exonic	NM_002114	.	missense SNV	HIVEP1:NM_002114:exon9:c.C8075G:p.A2692G	ENST00000541134.1,ENST00000379388.2	.	6p24.1	.	.	.	.	.	rs1042054	.	.	0.0249169	0.0248	0.0283546	0.0303	0.0363	0.0307	0.0283307609495	0.0288461127404	0.58,T	0.0,B	0.0,B	1,N	0.320230,N	0.515,N	1.5,T	4.5715	-0.781	0.027	.	.	AC=2;AN=4;BQB=0.999677;DP4=18,12,22,26;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.224287;SF=12,20;SGB=-0.692067;VDB=0.47953	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:20:255,0,191	.	.	.	.	.	.	.	0/1:50:28:255,0,255	.	.	.	.	C	G	0	2	Human immunodeficiency virus type I enhancer-binding protein-1	.	.	.	9417921|2037300	.	NUCLEUS	DNA_BINDING	.	.	.	.	
L	6	13487087	rs80189999	G	A	222	PASS	GFOD1	glucose-fructose oxidoreductase domain containing 1	exonic	NM_001242629,NM_018988	.	synonymous SNV	GFOD1:NM_001242629:exon1:c.C36T:p.L12L,GFOD1:NM_018988:exon1:c.C36T:p.L12L	ENST00000379287.3,ENST00000603223.1	CpG: 198	6p23	.	.	Score=718;Name=V$NRSF_01	.	.	rs80189999	.	.	0.0614618	0.0506	0.0101837	0.0005	0.0034	0.0443	0.0614618	0.05528845625	.	.	.	.	.	.	.	.	2.255	0.935	0.986374,10.58	4.36	AC=3;AN=6;BQB=0.661757;DP4=48,65,45,66;DP=293;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.231574;SF=0,20,21;SGB=-0.692914;VDB=0.037504	GT:DP:DV:PL	0/1:53:25:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:33:255,0,255	0/1:109:53:255,0,255	.	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	6	16327897	rs184327938	C	A	62.17	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	missense SNV	ATXN1:NM_001128164:exon7:c.G645T:p.Q215H,ATXN1:NM_000332:exon8:c.G645T:p.Q215H	ENST00000436367.1,ENST00000244769.4	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs184327938	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116473.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0004	0.0050	.	0.0478261	0.316,T	.	.	1,N	.	0,N	0.45,T	.	0.107	0.096	.	.	AC=9;AN=18;BQB=0.114218;DP4=56,47,35,35;DP=392;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00524752;SF=1,3,5,8,10,15,17,20,21;SGB=-0.651104;VDB=0.0859282	GT:DP:DV:PL	.	0/1:15:8:91,0,128	.	0/1:27:8:64,0,255	.	0/1:33:8:102,0,255	.	.	0/1:11:4:55,0,179	.	0/1:13:11:132,0,19	.	.	.	.	0/1:12:5:76,0,129	.	0/1:14:4:60,0,208	.	.	0/1:13:9:116,0,96	0/1:35:13:169,0,255	.	.	.	C	A	0	9	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	6	17292048	rs80303690	G	A	222	PASS	RBM24	RNA binding motif protein 24	exonic	NM_001143941,NM_001143942,NM_153020	.	missense SNV	RBM24:NM_153020:exon3:c.G274A:p.V92I,RBM24:NM_001143941:exon4:c.G235A:p.V79I,RBM24:NM_001143942:exon4:c.G409A:p.V137I	ENST00000425446.2,ENST00000508508.1,ENST00000318204.5,ENST00000379052.5	.	6p22.3	.	.	Score=840;Name=V$COMP1_01	.	.	rs80303690	.	.	0.0498339	0.0456	0.0229633	0.0010	0.0132	0.0464	0.0513016807044	0.0492788591346	0.362,T	0.057,B	0.74,P	1,D	0.000000,D	1.95,M	2.2,T	19.8414	2.695	7.780	3.558769,23.1	5.71	AC=2;AN=4;BQB=0.635697;DP4=22,9,20,9;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.488715;SF=11,20;SGB=-0.683931;VDB=0.464008	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:25:13:255,0,255	.	.	.	.	.	.	.	.	0/1:35:16:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	6	25554333	rs139900430	T	G	177	PASS	LRRC16A	leucine rich repeat containing 16A	splicing	NM_001173977,NM_017640	NM_001173977:exon28:c.2592+9T>G;NM_017640:exon28:c.2592+9T>G	.	.	ENST00000329474.6	.	6p22.2	.	.	.	.	.	rs139900430	.	.	0.0182724	0.0159	0.00319489	.	0.0023	0.0359	0.0130168351608	0.0168269108173	.	.	.	.	.	.	.	.	-0.915	-0.418	.	.	AC=1;AN=2;BQB=0.509932;DP4=11,5,6,3;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996401;SF=20;SGB=-0.662043;VDB=0.0527636	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:9:211,0,255	.	.	.	.	T	G	0	1	Leucine-rich repeat-containing protein 16A	.	.	.	16054028	.	.	.	.	.	.	.	
L	6	26027460	rs28688702	G	A	222	PASS	HIST1H4B	histone cluster 1, H4b	exonic	NM_003544	.	synonymous SNV	HIST1H4B:NM_003544:exon1:c.C21T:p.G7G	ENST00000377364.3	CpG: 39	6p22.2	.	.	.	.	.	rs28688702	.	.	0.0332226	0.0228	0.00479233	0.0002	0.0030	0.0176	0.0332226	0.0276442430288	.	.	.	.	.	.	.	.	-0.338	-2.638	1.067707,11.04	.	AC=2;AN=4;BQB=0.828555;DP4=41,25,57,54;DP=248;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.814561;SF=2,20;SGB=-0.693147;VDB=8.54633e-05	GT:DP:DV:PL	.	.	0/1:95:61:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:82:50:255,0,255	.	.	.	.	G	A	0	2	Histone 1, H4b	.	.	.	12408966|9119399	.	.	.	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_RNA_POL_I_PROMOTER_OPENING;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_AMYLOIDS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	
L	6	26033674	rs201179274	G	A	222	PASS	HIST1H2AB	histone cluster 1, H2ab	exonic	NM_003513	.	synonymous SNV	HIST1H2AB:NM_003513:exon1:c.C123T:p.S41S	ENST00000259791.2	CpG: 35	6p22.2	.	.	Score=804;Name=V$OLF1_01	.	.	rs201179274	.	.	0.00498339	0.003	0.000599042	.	4.953e-05	0.0007	0.00498339	0.00498339	.	.	.	.	.	.	.	.	-3.991	-6.191	.	.	AC=1;AN=2;BQB=0.786045;DP4=22,4,21,6;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.587166;SF=20;SGB=-0.693021;VDB=0.0994183	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:27:255,0,255	.	.	.	.	G	A	0	1	Histone 1, H2ab	.	.	.	12408966|9439656|9119399|6647026	.	.	.	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_RNA_POL_I_PROMOTER_OPENING;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_AMYLOIDS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	
L	6	26108148	rs533573752	T	A	222	PASS	HIST1H1T	histone cluster 1, H1t	exonic	NM_005323	.	synonymous SNV	HIST1H1T:NM_005323:exon1:c.A174T:p.R58R	ENST00000338379.4	.	6p22.2	.	.	.	.	.	rs533573752	.	.	0.00332226	0.002	0.000399361	.	8.237e-06	0.0001	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-0.507	-1.661	.	.	AC=1;AN=2;BQB=0.998718;DP4=21,12,19,9;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.361984;SF=20;SGB=-0.693054;VDB=0.549064	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:28:255,0,255	.	.	.	.	T	A	0	1	Histone 1, H1t	.	.	.	12408966|9119399|8325638|8201007|1889752	GAMETE_GENERATION;SEXUAL_REPRODUCTION;REPRODUCTION	.	.	.	.	.	.	
L	6	26393161	rs73736249	A	C	222	PASS	BTN2A2	butyrophilin, subfamily 2, member A2	exonic	NM_001197237,NM_001197239,NM_006995,NM_181531	.	missense SNV	BTN2A2:NM_001197239:exon6:c.A908C:p.K303T,BTN2A2:NM_181531:exon7:c.A1190C:p.K397T,BTN2A2:NM_001197237:exon8:c.A1538C:p.K513T,BTN2A2:NM_006995:exon8:c.A1538C:p.K513T	ENST00000352867.2,ENST00000356709.4,ENST00000482536.1,ENST00000432533.2,ENST00000416795.2,ENST00000469230.1	.	6p22.2	.	.	.	.	.	rs73736249	.	.	0.00664452	0.006	0.0119808	0.0124	0.0064	0.0060	0.00459418199081	0.00664452	0.574,T	0.0,B	0.0,B	1,N	0.136729,N	-0.64,N	0.55,T	2.3495	0.006	0.005	.	.	AC=2;AN=4;BQB=0.95064;DP4=82,35,103,33;DP=362;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.48826;SF=5,20;SGB=-0.693147;VDB=0.2109	GT:DP:DV:PL	.	.	.	.	.	0/1:151:87:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:49:255,0,255	.	.	.	.	A	C	0	2	Butyrophilin, subfamily 2, member A2	.	.	.	20208008|11170752	.	.	.	.	.	.	.	
H	6	26406362	rs201217877	T	C	177	PASS	BTN3A1	butyrophilin, subfamily 3, member A1	exonic	NM_001145008,NM_001145009,NM_007048,NM_194441	.	missense SNV	BTN3A1:NM_001145008:exon3:c.T311C:p.I104T,BTN3A1:NM_001145009:exon3:c.T311C:p.I104T,BTN3A1:NM_007048:exon3:c.T311C:p.I104T,BTN3A1:NM_194441:exon3:c.T311C:p.I104T	ENST00000476549.2,ENST00000289361.6,ENST00000414912.2,ENST00000425234.2	.	6p22.2	.	.	.	.	.	rs201217877	.	.	0.00830565	0.0079	0.00159744	.	0.0009	0.0109	0.00830565	0.00830565	0.001,D	0.998,D	1.0,D	1,N	.	2.995,M	-0.01,T	8.3453	1.270	3.178	3.592274,23.2	2.21	AC=2;AN=4;BQB=0.980437;DP4=5,57,4,59;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.425046;MQSB=0.129102;RPB=0.852822;SF=5,20;SGB=-0.693127;VDB=0.0280948	GT:DP:DV:PL	.	.	.	.	.	0/1:66:33:203,0,213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:30:217,0,203	.	.	.	.	T	C	0	2	Butyrophilin, subfamily 3, member A1	.	.	.	20208008|11170752	LIPID_METABOLIC_PROCESS	.	.	.	.	.	.	
L	6	27799258	rs41269273	A	T	222	PASS	HIST1H4K	histone cluster 1, H4k	exonic	NM_003541	.	synonymous SNV	HIST1H4K:NM_003541:exon1:c.T48A:p.A16A	ENST00000357549.2	CpG: 47	6p22.1	.	.	Score=787;Name=V$PAX5_02	.	.	rs41269273	.	.	0.0166113	0.0198	0.029353	.	0.0434	0.0188	0.0166113	0.0132211580529	.	.	.	.	.	.	.	.	-0.702	-0.160	.	.	AC=1;AN=2;BQB=0.799856;DP4=29,13,37,9;DP=131;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.61263;MQSB=0.211215;RPB=0.516996;SF=20;SGB=-0.693147;VDB=0.977386	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:46:255,0,255	.	.	.	.	A	T	0	1	Histone 1, H4k	.	.	.	12408966|9439656	.	.	.	KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_DEPOSITION_OF_NEW_CENPA_CONTAINING_NUCLEOSOMES_AT_THE_CENTROMERE;REACTOME_RNA_POL_I_PROMOTER_OPENING;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_AMYLOIDS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	
H	6	27925685	rs528798603	C	T	222	PASS	OR2B6	olfactory receptor, family 2, subfamily B, member 6	exonic	NM_012367	.	stopgain	OR2B6:NM_012367:exon1:c.C667T:p.R223X	ENST00000244623.1	.	6p22.1	.	.	.	.	.	rs528798603	.	.	0	.	0.000199681	.	7.419e-05	0.0007	.	.	.	.	.	1,D	0.737705,U	.	.	6.3451	0.204	-1.518	7.720593,35	.	AC=1;AN=2;BQB=0.451567;DP4=8,10,13,10;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.338874;SF=20;SGB=-0.692717;VDB=0.282317	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29407893	rs41271549	A	G	222	PASS	OR10C1	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.A101G:p.Y34C	ENST00000377149.1,ENST00000444197.2	.	6p22.1	.	.	.	.	.	rs41271549	.	.	0.0282392	0.0317	0.0147764	0.0059	0.0092	0.0239	0.0245022860643	0.024038465625	0.0,D	0.971,D	0.999,D	1,D	0.007353,U	3.38,M	3.57,T	5.1592	0.087	2.946	5.276347,25.7	.	AC=3;AN=6;BQB=0.4079;DP4=90,26,107,22;DP=313;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0984309;SF=4,14,20;SGB=-0.693143;VDB=0.0557294	GT:DP:DV:PL	.	.	.	.	0/1:80:38:255,0,255	.	.	.	.	.	.	.	.	.	0/1:72:41:255,0,255	.	.	.	.	.	0/1:93:50:255,0,255	.	.	.	.	A	G	0	3	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29408717	rs149013102	C	A	222	PASS	OR10C1	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.C925A:p.P309T	ENST00000377149.1,ENST00000444197.2	.	6p22.1	.	.	.	.	.	rs149013102	.	.	0.0282392	0.0317	0.0147764	0.0059	0.0094	0.0244	0.0245022860643	0.024038465625	0.293,T	0.001,B	0.001,B	1,N	0.971542,U	0.625,N	8.84,T	4.5464	-0.460	-0.284	.	.	AC=3;AN=6;BQB=0.835699;DP4=37,45,28,35;DP=189;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.866679;SF=4,14,20;SGB=-0.692352;VDB=0.210997	GT:DP:DV:PL	.	.	.	.	0/1:47:21:255,0,255	.	.	.	.	.	.	.	.	.	0/1:48:21:255,0,255	.	.	.	.	.	0/1:50:21:255,0,255	.	.	.	.	C	A	0	3	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29408720	rs61735219	A	G	222	PASS	OR10C1	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	exonic	NM_013941	.	missense SNV	OR10C1:NM_013941:exon1:c.A928G:p.M310V	ENST00000377149.1,ENST00000444197.2	.	6p22.1	.	.	.	.	.	rs61735219	.	.	0.0282392	0.0317	0.0147764	0.0059	0.0094	0.0244	0.0245022860643	0.024038465625	0.055,T	0.0,B	0.0,B	1,N	0.000771,N	0.255,N	8.96,T	3.0389	-0.231	-0.834	.	.	AC=3;AN=6;BQB=0.926641;DP4=30,41,28,34;DP=187;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.722718;SF=4,14,20;SGB=-0.692067;VDB=0.185946	GT:DP:DV:PL	.	.	.	.	0/1:42:20:255,0,255	.	.	.	.	.	.	.	.	.	0/1:43:21:255,0,255	.	.	.	.	.	0/1:48:21:255,0,255	.	.	.	.	A	G	0	3	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430024	rs191175468	T	C	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.T478C:p.S160P	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs191175468	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0206738399694	0.018028856851	0.226,T	0.005,B	0.0,B	1,N	0.334002,N	0.745,N	8.69,T	2.6434	-0.687	-2.485	.	.	AC=2;AN=4;BQB=0.65804;DP4=60,22,35,19;DP=178;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.843241;SF=14,20;SGB=-0.692717;VDB=0.835329	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:23:255,0,255	.	.	.	.	.	0/1:86:31:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430028	rs182445185	C	T	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.C482T:p.T161I	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs182445185	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0206738399694	0.018028856851	0.027,D	0.647,P	0.931,P	0.999997,N	0.000798,D	0.695,N	8.41,T	8.6089	1.882	0.052	2.568121,19.90	2.81	AC=2;AN=4;BQB=0.782761;DP4=63,26,33,21;DP=181;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.918342;SF=14,20;SGB=-0.692717;VDB=0.644697	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:23:255,0,255	.	.	.	.	.	0/1:90:31:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430097	rs189150803	G	A	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.G551A:p.R184Q	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs189150803	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0206738399694	0.018028856851	0.211,T	0.019,B	0.057,B	1,N	0.893590,N	0.28,N	8.76,T	6.0707	-0.674	-1.387	.	.	AC=2;AN=4;BQB=0.121998;DP4=63,31,44,15;DP=214;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.818452;SF=14,20;SGB=-0.692562;VDB=0.26738	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:22:255,0,255	.	.	.	.	.	0/1:95:37:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430202	rs193012486	C	T	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.C656T:p.T219I	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs193012486	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0183767300153	0.0168269354567	1.0,T	0.0,B	0.0,B	0.999998,N	0.000926,N	-3.255,N	9.94,T	7.6996	0.128	3.159	.	.	AC=2;AN=4;BQB=0.639308;DP4=28,49,32,26;DP=174;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.93669;SF=14,20;SGB=-0.69168;VDB=0.0921717	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:19:255,0,255	.	.	.	.	.	0/1:82:39:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430257	rs371566660	G	A	216.5	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	synonymous SNV	OR2H1:NM_030883:exon3:c.G711A:p.G237G	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs371566660	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0215947	0.0168269354567	.	.	.	.	.	.	.	.	-0.631	-0.718	.	.	AC=2;AN=4;BQB=0.801569;DP4=21,29,18,22;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691007;SF=14,20;SGB=-0.680642;VDB=0.105943	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:12:245,0,255	.	.	.	.	.	0/1:53:28:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430260	rs374894910	C	T	219	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	synonymous SNV	OR2H1:NM_030883:exon3:c.C714T:p.T238T	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs374894910	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0215947	0.0168269354567	.	.	.	.	.	.	.	.	0.319	-1.276	.	.	AC=2;AN=4;BQB=0.991614;DP4=21,29,18,21;DP=111;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691007;SF=14,20;SGB=-0.680642;VDB=0.105943	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:12:250,0,255	.	.	.	.	.	0/1:52:27:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430276	.	A	T	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.A730T:p.T244S	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	.	.	.	.	.	.	.	.	.	.	.	0.038,D	0.079,B	0.149,B	1,N	0.380349,N	1.545,L	1.15,T	6.1642	-1.125	-1.983	.	.	AC=1;AN=2;BQB=0.921699;DP4=12,16,10,14;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.308952;SF=20;SGB=-0.692831;VDB=0.740651	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:24:255,0,255	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	PM2
L	6	29430334	rs140963208	C	T	220.5	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.C788T:p.P263L	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	Score=803;Name=V$OLF1_01	Score=0.90484;Name=chr6:29555421	.	rs140963208	.	.	0.0215947	0.0238	0.00838658	0.0002	0.0031	0.0191	0.0215947	0.018028856851	0.076,T	0.027,B	0.026,B	1,N	0.001136,N	-0.155,N	8.77,T	1.8467	0.304	-0.762	2.524001,19.62	.	AC=2;AN=4;BQB=1;DP4=30,15,16,17;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.807118;SF=14,20;SGB=-0.676189;VDB=0.815111	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:11:252,0,255	.	.	.	.	.	0/1:46:22:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29430441	rs192145372	C	T	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	missense SNV	OR2H1:NM_030883:exon3:c.C895T:p.L299F	ENST00000442615.1,ENST00000377132.1,ENST00000377133.1,ENST00000377136.1,ENST00000396792.2,ENST00000473369.1	.	6p22.1	.	.	.	Score=0.90484;Name=chr6:29555421	.	rs192145372	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0192	0.0176110087289	0.018028856851	0.241,T	0.005,B	0.004,B	1,N	0.970275,N	0.82,L	1.08,T	5.7956	-0.846	-1.294	.	.	AC=2;AN=4;BQB=0.97342;DP4=26,11,23,6;DP=102;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.809607;SF=14,20;SGB=-0.680642;VDB=0.202124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:12:255,0,255	.	.	.	.	.	0/1:38:17:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	6	29455505	rs145164303	T	G	222	PASS	MAS1L	MAS1 proto-oncogene like, G protein-coupled receptor	exonic	NM_052967	.	missense SNV	MAS1L:NM_052967:exon1:c.A175C:p.T59P	ENST00000377127.3	.	6p22.1	.	.	.	.	.	rs145164303	.	.	0.0548173	0.0506	0.0291534	0.0094	0.0096	0.0281	0.0367534470138	0.0432692543269	0.225,T	0.167,B	0.487,P	1,N	.	0,N	3.73,T	1.4266	-0.845	0.115	.	.	AC=2;AN=4;BQB=0.994105;DP4=19,16,27,15;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.57002;SF=14,20;SGB=-0.692562;VDB=0.893361	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:22:255,0,255	.	.	.	.	.	0/1:37:20:255,0,255	.	.	.	.	T	G	0	2	MAS1 oncogene-like	.	.	.	11551509	.	.	.	.	.	.	.	
M	6	30671206	rs145685809	T	C	213.67	PASS	MDC1	mediator of DNA-damage checkpoint 1	exonic	NM_014641	.	missense SNV	MDC1:NM_014641:exon11:c.A5671G:p.T1891A	ENST00000376406.3,ENST00000442150.1,ENST00000376405.2	.	6p21.33	.	.	.	.	.	rs145685809	.	.	0.0232558	0.0268	0.00678914	0.0001	0.0022	0.0241	0.0229709117917	0.0228365199519	0.384,T	0.003,B	0.002,B	1,N	0.470818,N	0.185,N	4.28,T	8.9596	-0.476	-0.369	.	.	AC=3;AN=6;BQB=0.93071;DP4=78,50,79,56;DP=367;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99999;SF=5,20,22;SGB=-0.693147;VDB=0.0701918	GT:DP:DV:PL	.	.	.	.	.	0/1:135:71:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:96:51:255,0,255	.	0/1:32:13:230,0,255	.	.	T	C	0	3	Mediator of DNA damage checkpoint protein 1	.	.	.	21293379|18006705|17158742|16427010|16427009|12607005|12607004|12607003|12475977|8724849	.	NUCLEUS	.	.	PID_ATM_PATHWAY	.	REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR	
L	6	31238909	rs1050686	G	T	198.69	PASS	HLA-C	major histocompatibility complex, class I, C	exonic	NM_001243042,NM_002117	.	missense SNV	HLA-C:NM_001243042:exon3:c.C560A:p.T187K,HLA-C:NM_002117:exon3:c.C560A:p.T187K	ENST00000376228.5,ENST00000383329.3	CpG: 121	6p21.33	.	.	.	Score=0.8991;Name=chr6:31283726	.	rs1050686	.	.	0.00996678	0.0109	0.0329473	.	0.0298	0.0166	0.0160796238591	0.0120192314423	0.21,T	0.012,B	0.002,B	1,N	0.000007,U	2.175,M	5.77,T	7.0124	-5.533	-9.317	.	.	AC=17,1;AN=32;BQB=0.954362;DP4=577,187,497,135;DP=1906;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.972534;MQSB=0.824495;RPB=0.933346;SF=1,2,3,4,5,7,8,9,10,11,13,16,20,22,23,24;SGB=-0.693147;VDB=0.922597	GT:DP:DV:PL	.	0/1:93:52:255,0,255,.,.,.	0/1:93:43:255,0,255,.,.,.	0/1:83:22:181,0,255,.,.,.	0/1:92:53:255,0,255,.,.,.	0/1:135:35:236,0,255,.,.,.	.	0/1:84:35:255,0,255,.,.,.	0/1:75:32:255,0,255,.,.,.	0/1:65:35:255,0,255,.,.,.	1/2:75:75:255,255,139,255,0,255	1/1:57:57:255,143,8,.,.,.	.	0/1:128:68:255,0,255,.,.,.	.	.	0/1:98:19:181,0,255,.,.,.	.	.	.	0/1:87:44:255,0,255,.,.,.	.	0/1:49:9:138,0,255,.,.,.	0/1:121:27:206,0,255,.,.,.	0/1:61:26:255,0,255,.,.,.	G	A,T	1	15	{Psoriasis susceptibility 1}, 177900 (3); {HIV-1 viremia, susceptibility to}, 609423 (3)	.	.	.	24031003|24031002|23559252|22490439|21907013|21499264|21051598|19935663|17252545|16642438|15851575|15477349|15297676|12920676|11369787|11323700|10073943|9438190|8304761|6609813|2914713	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31238910	rs1050685	T	C	199.81	PASS	HLA-C	major histocompatibility complex, class I, C	exonic	NM_001243042,NM_002117	.	missense SNV	HLA-C:NM_001243042:exon3:c.A559G:p.T187A,HLA-C:NM_002117:exon3:c.A559G:p.T187A	ENST00000376228.5,ENST00000383329.3	CpG: 121	6p21.33	.	.	.	Score=0.8991;Name=chr6:31283726	.	rs1050685	.	.	0.00996678	0.0109	0.0329473	.	0.0296	0.0161	0.0160796238591	0.0120192314423	0.03,D	0.051,B	0.008,B	1,N	0.000007,U	2.145,M	5.75,T	8.1405	-4.140	-2.856	.	.	AC=17,1;AN=32;BQB=0.499848;DP4=574,179,511,147;DP=1926;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.866516;MQSB=0.927732;RPB=0.994285;SF=1,2,3,4,5,7,8,9,10,11,13,16,20,22,23,24;SGB=-0.693147;VDB=0.870823	GT:DP:DV:PL	.	0/1:94:54:255,0,255,.,.,.	0/1:92:43:255,0,255,.,.,.	0/1:82:22:191,0,255,.,.,.	0/1:95:56:255,0,255,.,.,.	0/1:133:35:241,0,255,.,.,.	.	0/1:85:36:255,0,255,.,.,.	0/1:76:35:255,0,255,.,.,.	0/1:68:39:255,0,255,.,.,.	1/2:78:78:255,255,139,255,0,255	1/1:60:60:255,163,22,.,.,.	.	0/1:131:70:255,0,255,.,.,.	.	.	0/1:97:19:195,0,255,.,.,.	.	.	.	0/1:91:48:255,0,255,.,.,.	.	0/1:48:9:141,0,255,.,.,.	0/1:120:27:206,0,255,.,.,.	0/1:61:27:255,0,255,.,.,.	T	G,C	1	15	{Psoriasis susceptibility 1}, 177900 (3); {HIV-1 viremia, susceptibility to}, 609423 (3)	.	.	.	24031003|24031002|23559252|22490439|21907013|21499264|21051598|19935663|17252545|16642438|15851575|15477349|15297676|12920676|11369787|11323700|10073943|9438190|8304761|6609813|2914713	.	.	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31324057	rs12697943	C	A	170.68	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	missense SNV	HLA-B:NM_005514:exon3:c.G506T:p.R169L	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs12697943	.	.	.	.	.	.	0.0194	0.0491	.	0.0695652	0.0,D	0.993,D	0.999,D	1,N	0.083113,U	2.925,M	5.6,T	6.3785	-0.079	-0.161	4.928790,25.0	.	AC=8;AN=16;BQB=0.508898;DP4=464,133,146,126;DP=1219;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=1.50264e-06;MQSB=0.838287;RPB=0.0763577;SF=2,3,7,8,10,11,20,24;SGB=-0.693097;VDB=0.0453803	GT:DP:DV:PL	.	.	0/1:122:30:180,0,255	0/1:59:25:255,0,255	.	.	.	0/1:149:39:226,0,255	0/1:115:29:201,0,255	.	0/1:100:56:255,0,255	0/1:84:40:255,0,255	.	.	.	.	.	.	.	.	0/1:80:22:184,0,255	.	.	.	0/1:160:31:85,0,255	C	A	0	8	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	.	.	24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31324531	rs1131204	C	G	204.62	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	missense SNV	HLA-B:NM_005514:exon2:c.G277C:p.A93P	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs1131204	.	.	0.149502	0.1111	0.0223642	.	0.0010	0.0163	0.0842268073507	0.13341369351	0.003,D	0.643,P	0.848,P	1,N	0.137671,U	3.65,H	9.41,T	8.6677	-0.875	-4.705	1.193322,11.71	.	AC=30,10;AN=44;BQB=0.336116;DP4=179,67,784,520;DP=1848;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=2.71541e-06;MQSB=0.426599;RPB=0.0199565;SF=0,2,3,4,5,6,7,8,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.680642;VDB=0.851349	GT:DP:DV:PL	0/2:51:12:77,.,.,0,.,255	.	1/2:53:53:255,240,138,255,0,255	1/1:67:67:255,202,0,.,.,.	1/1:25:24:255,50,0,.,.,.	1/1:117:117:255,255,0,.,.,.	1/2:54:54:255,255,182,255,0,255	1/2:47:47:255,255,161,255,0,255	1/2:43:43:255,252,186,255,0,255	.	1/1:63:63:255,190,0,.,.,.	1/1:50:50:255,151,0,.,.,.	1/2:51:51:255,254,160,255,0,255	.	0/1:121:41:255,0,255,.,.,.	1/2:62:62:255,217,85,255,0,255	0/1:108:38:255,0,255,.,.,.	0/1:92:37:255,0,255,.,.,.	1/2:50:50:255,249,159,255,0,255	1/2:54:54:255,223,115,255,0,255	1/1:64:64:255,193,0,.,.,.	1/1:176:176:255,255,0,.,.,.	1/1:18:18:255,54,0,.,.,.	1/2:71:70:255,255,212,255,0,255	1/1:113:113:255,255,0,.,.,.	C	T,G	9	13	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	.	.	24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31324602	rs41562914	T	A	207.64	PASS	HLA-B	major histocompatibility complex, class I, B	exonic	NM_005514	.	missense SNV	HLA-B:NM_005514:exon2:c.A206T:p.E69V	ENST00000412585.2	CpG: 126	6p21.33	.	.	.	Score=0.8991;Name=chr6:31204588	.	rs41562914	.	.	.	.	.	.	3.254e-05	0.0003	0.00142045	.	0.005,D	0.363,B	0.075,B	1,N	0.040001,U	0.49,N	9.56,T	8.9744	-4.011	-4.912	.	.	AC=7,29,1;AN=44;BQB=0.830059;DP4=192,117,839,424;DP=2079;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=4.02059e-07;MQSB=0.7241;RPB=0.520764;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,18,19,20,22,23,24;SGB=-0.693146;VDB=7.37671e-05	GT:DP:DV:PL	3/2:43:43:255,.,.,255,.,255,255,.,0,228	1/2:42:42:255,255,182,255,0,255,.,.,.,.	2/2:64:64:255,.,.,193,.,0,.,.,.,.	0/2:89:40:255,.,.,0,.,255,.,.,.,.	0/1:41:16:255,0,255,.,.,.,.,.,.,.	2/1:126:126:255,255,255,255,0,255,.,.,.,.	1/2:71:71:255,255,169,255,0,255,.,.,.,.	2/2:62:62:255,.,.,187,.,0,.,.,.,.	2/2:59:59:255,.,.,178,.,0,.,.,.,.	1/2:45:45:255,255,255,255,0,255,.,.,.,.	2/2:85:85:255,.,.,255,.,0,.,.,.,.	2/2:60:60:255,.,.,181,.,0,.,.,.,.	0/2:66:22:216,.,.,0,.,255,.,.,.,.	1/2:65:65:255,255,255,255,0,255,.,.,.,.	0/2:118:39:255,.,.,0,.,255,.,.,.,.	0/2:70:21:178,.,.,0,.,255,.,.,.,.	.	.	2/2:64:64:255,.,.,193,.,0,.,.,.,.	0/2:74:18:206,.,.,0,.,255,.,.,.,.	2/2:88:88:255,.,.,255,.,0,.,.,.,.	.	0/2:25:18:255,.,.,0,.,165,.,.,.,.	1/2:96:96:255,255,253,255,0,255,.,.,.,.	2/2:119:119:255,.,.,255,.,0,.,.,.,.	T	G,A,C	8	14	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	.	.	24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31324743	rs41563412	G	C	223.5	PASS	HLA-B	major histocompatibility complex, class I, B	splicing	NM_005514	NM_005514:exon2:c.74-9C>G	.	.	ENST00000412585.2	CpG: 126	6p21.33	.	.	Score=891;Name=V$AP2_Q6	Score=0.8991;Name=chr6:31204588	.	rs41563412	.	.	0.101329	0.0694	0.0275559	0.0006	0.0087	0.0274	0.101329	0.0937500576923	.	.	.	0.999996,N	.	.	.	5.2924	-0.085	0.261	.	.	AC=10;AN=16;BQB=0.936588;DP4=116,88,183,165;DP=687;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.600373;MQSB=0.359173;RPB=0.0998696;SF=2,3,7,8,10,11,20,24;SGB=-0.693021;VDB=0.663473	GT:DP:DV:PL	.	.	0/1:55:27:255,0,255	0/1:76:44:255,0,255	.	.	.	0/1:62:29:255,0,255	0/1:60:32:255,0,255	.	1/1:79:79:255,238,0	1/1:62:62:255,187,0	.	.	.	.	.	.	.	.	0/1:91:40:255,0,255	.	.	.	0/1:67:35:255,0,255	G	C	2	6	{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)	.	.	.	24977435|23945374|23789883|21428768|21051598|19483685|18256392|18004301|17694058|17496894|16538176|16288280|15851575|15743917|15592417|15528444|15247625|15247624|15057820|15024131|12648975|12462283|12134147|12017401|11943262|11888582|11733749|11386265|10073943|8053961|8016085|8006430|6300865|3118362|3001712|2911734|2813433|2247120|2000377|1865923|1589035|1317015|1280333|136066	DEFENSE_RESPONSE	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_ENDOCYTOSIS;KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ENDOSOMAL_VACUOLAR_PATHWAY;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_ANTIGEN_PRESENTATION_FOLDING_ASSEMBLY_AND_PEPTIDE_LOADING_OF_CLASS_I_MHC;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION	
L	6	31378395	rs17200158	T	G	222	PASS	MICA	MHC class I polypeptide-related sequence A	exonic	NM_000247,NM_001177519	.	missense SNV	MICA:NM_000247:exon2:c.T146G:p.V49G,MICA:NM_001177519:exon2:c.T146G:p.V49G	ENST00000449934.2,ENST00000414046.2	.	6p21.33	.	.	.	Score=0.928926;Name=chr6:31451673	.	rs17200158	.	.	0	.	0.00698882	0.0057	0.0022	0.0007	.	.	0.067,T	0.009,B	0.012,B	1,N	0.665040,N	-2.01,N	6.75,T	2.5985	-0.358	-0.737	.	.	AC=1;AN=2;BQB=0.820956;DP4=16,0,26,1;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.505338;SF=20;SGB=-0.693021;VDB=0.1646	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:27:255,0,209	.	.	.	.	T	G	0	1	MHC class I polypeptide-related sequence A	.	.	.	19783834|19363685|17495932|16091471|15357948|12384702|11567106|11557981|11502807|11323699|11224526|11053265|10746789|10426993|10369920|10369918|10369917|9497295|9037047|8824804|8022771	DEFENSE_RESPONSE;CELL_RECOGNITION;RESPONSE_TO_STRESS;CELLULAR_DEFENSE_RESPONSE	.	.	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	.	
L	6	31379930	rs41554616	C	G	196.12	PASS	MICA	MHC class I polypeptide-related sequence A	exonic	NM_000247,NM_001177519,NM_001289152,NM_001289153,NM_001289154	.	missense SNV	MICA:NM_000247:exon4:c.C820G:p.R274G,MICA:NM_001177519:exon4:c.C820G:p.R274G,MICA:NM_001289152:exon4:c.C529G:p.R177G,MICA:NM_001289153:exon4:c.C529G:p.R177G,MICA:NM_001289154:exon4:c.C406G:p.R136G	ENST00000449934.2,ENST00000414046.2	.	6p21.33	.	.	.	Score=0.928926;Name=chr6:31451673	.	rs41554616	.	.	0.076412	0.0536	0.0157748	.	0.0054	0.0466	.	0.0709134795673	0.0,D	0.499,P	0.75,P	1,N	0.756012,U	2.215,M	4.15,T	3.9376	0.435	1.174	2.572292,19.93	.	AC=10;AN=16;BQB=0.946315;DP4=33,121,52,107;DP=350;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.000109277;MQSB=0.507017;RPB=0.656442;SF=2,3,7,8,10,11,20,24;SGB=-0.691153;VDB=0.318303	GT:DP:DV:PL	.	.	0/1:36:18:251,0,255	0/1:48:25:255,0,255	.	.	.	0/1:42:13:155,0,255	0/1:48:16:233,0,255	.	1/1:25:25:255,75,0	1/1:34:33:255,65,0	.	.	.	.	.	.	.	.	0/1:42:15:251,0,233	.	.	.	0/1:38:14:169,0,255	C	G	2	6	MHC class I polypeptide-related sequence A	.	.	.	19783834|19363685|17495932|16091471|15357948|12384702|11567106|11557981|11502807|11323699|11224526|11053265|10746789|10426993|10369920|10369918|10369917|9497295|9037047|8824804|8022771	DEFENSE_RESPONSE;CELL_RECOGNITION;RESPONSE_TO_STRESS;CELLULAR_DEFENSE_RESPONSE	.	.	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	.	
L	6	31507055	rs148931659	A	G	193.33	PASS	DDX39B	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	splicing	NM_004640,NM_080598	NM_004640:exon3:c.212-4T>C;NM_080598:exon3:c.212-4T>C	.	.	ENST00000453105.2,ENST00000458640.1,ENST00000376177.2,ENST00000415382.2,ENST00000376185.1,ENST00000396172.1,ENST00000417556.2,ENST00000449074.2	.	6p21.33	.	.	.	.	.	rs148931659	.	.	0.0465116	0.0506	0.0179712	0.0001	0.0065	0.0410	0.0465116	0.0420672923077	.	.	.	.	.	.	.	.	-1.026	-1.654	.	.	AC=3;AN=6;BQB=0.998307;DP4=13,29,13,42;DP=122;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.940834;SF=5,20,22;SGB=-0.692914;VDB=0.128816	GT:DP:DV:PL	.	.	.	.	.	0/1:50:25:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:21:255,0,193	.	0/1:17:9:170,0,178	.	.	A	G	0	3	DEAD box polypeptide 39Bipt-1	.	.	.	15998806|11979277|11675789|11380625|9242493|7849397|7601445|2911734	.	.	.	KEGG_SPLICEOSOME	.	.	.	
L	6	31604513	rs114580964	C	A	222	PASS	PRRC2A	proline-rich coiled-coil 2A	exonic	NM_004638,NM_080686	.	missense SNV	PRRC2A:NM_004638:exon28:c.C5938A:p.L1980I,PRRC2A:NM_080686:exon28:c.C5938A:p.L1980I	ENST00000376007.4,ENST00000376033.2	.	6p21.33	.	.	Score=927;Name=V$HSF2_01	.	.	rs114580964	.	.	0.0415282	0.0407	0.0109824	.	0.0028	0.0318	0.0367534520674	0.0384615149038	0.01,D	0.967,D	0.993,D	0.995841,D	0.000198,D	1.39,L	4.58,T	17.7104	2.703	2.089	4.808801,24.8	5.21	AC=3;AN=6;BQB=0.936248;DP4=103,27,89,27;DP=344;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981046;SF=5,20,22;SGB=-0.693147;VDB=0.80957	GT:DP:DV:PL	.	.	.	.	.	0/1:129:67:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:33:255,0,255	.	0/1:38:16:255,0,255	.	.	C	A	0	3	Proline-rich coiled-coil protein 2A	.	.	.	2156268	.	.	.	.	.	.	.	
L	6	31655681	rs116996610	C	T	221.86	PASS	ABHD16A	abhydrolase domain containing 16A	splicing	NM_001177515,NM_021160	NM_001177515:exon15:c.1272-4G>A;NM_021160:exon17:c.1371-4G>A	.	.	ENST00000471644.1,ENST00000375842.4,ENST00000440843.2,ENST00000395952.3,ENST00000461287.1	.	6p21.33	.	.	.	.	.	rs116996610	.	.	0.0697674	0.0625	0.0153754	0.0001	0.0042	0.0498	0.0612557381317	0.0673076716346	.	.	.	.	.	.	.	.	-1.178	-0.835	.	.	AC=7;AN=14;BQB=0.807846;DP4=128,88,113,73;DP=557;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.335758;SF=2,5,7,11,20,22,24;SGB=-0.693021;VDB=0.656992	GT:DP:DV:PL	.	.	0/1:49:27:255,0,255	.	.	0/1:87:43:255,0,255	.	0/1:62:30:255,0,255	.	.	.	0/1:48:15:255,0,255	.	.	.	.	.	.	.	.	0/1:66:33:255,0,255	.	0/1:35:16:255,0,255	.	0/1:55:22:255,0,255	C	T	0	7	Abhydrolase domain-containing 16A	.	.	.	2911734	.	.	.	.	.	.	.	
H	6	31779714	.	G	T	222	PASS	HSPA1L	heat shock 70kDa protein 1-like	exonic	NM_005527	.	missense SNV	HSPA1L:NM_005527:exon2:c.C36A:p.D12E	ENST00000375654.4,ENST00000417199.3	.	6p21.33	.	.	Score=922;Name=V$CDPCR3HD_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.996,D	0.995,D	1,D	.	5.725,H	1.94,T	15.0994	2.409	1.783	3.976174,23.6	4.66	AC=1;AN=2;BQB=0.646969;DP4=13,7,15,5;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.935497;SF=20;SGB=-0.692067;VDB=0.457878	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:20:255,0,255	.	.	.	.	G	T	0	1	Heat-shock 70kD protein-like-1	.	.	.	24270810|17591867|15024131|11943262|11888582|2538825|1700760|1356099	RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_BIOTIC_STIMULUS	.	.	KEGG_SPLICEOSOME;KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ENDOCYTOSIS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION	.	.	.	PM2
L	6	31962440	rs370461806	G	A	113.89	PASS	C4B,C4A,C4B_2	complement component 4A (Rodgers blood group)	exonic	NM_001002029,NM_001242823,NM_001252204,NM_007293	.	missense SNV	C4B:NM_001002029:exon21:c.G2758A:p.E920K,C4B_2:NM_001242823:exon21:c.G2758A:p.E920K,C4A:NM_001252204:exon21:c.G2758A:p.E920K,C4A:NM_007293:exon21:c.G2758A:p.E920K	ENST00000428956.2,ENST00000498271.1	.	6p21.33	.	.	.	Score=0.998892;Name=chr6:31981046	.	rs370461806	.	.	.	.	.	7.8e-05	0.0011	0.0134	0.00142045	.	0.341,T	0.019,B	0.081,B	1,N	0.012715,N	1.39,L	1.35,T	4.4695	0.087	1.765	.	.	AC=4;AN=8;BQB=0.924163;DP4=344,330,95,106;DP=1162;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=0.386464;MQSB=0.672038;RPB=0.835816;SF=8,10,11,20;SGB=-0.693147;VDB=3.34497e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:179:52:248,0,255	.	0/1:199:45:121,0,255	0/1:215:40:74,0,255	.	.	.	.	.	.	.	.	0/1:282:64:152,0,255	.	.	.	.	G	A	0	4	C4a deficiency, 614380 (3); [Blood group, Rodgers], 614374 (3)	.	.	.	25339671|22387014|17503323|17024247|12226794|12224044|11261924|8660986|8570659|8473511|7451653|7262082|7129423|6984376|6948763|6932037|6885058|6881182|6607672|6581384|6577433|6420328|6418058|6316164|6201005|3936650|3871526|3838531|3462127|3315101|3260957|3018042|3009318|2984112|2983330|2907852|2883116|2551816|2431902|2395880|2384609|2295875|1988494|1573269|1088823|968900|492334|431636|368809|146925	.	.	.	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_COMPLEMENT_AND_COAGULATION_CASCADES;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	.	BIOCARTA_CLASSIC_PATHWAY;BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY;BIOCARTA_CLASSIC_PATHWAY;BIOCARTA_COMP_PATHWAY;BIOCARTA_LECTIN_PATHWAY	REACTOME_REGULATION_OF_COMPLEMENT_CASCADE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_COMPLEMENT_CASCADE;REACTOME_INITIAL_TRIGGERING_OF_COMPLEMENT	
L	6	32016423	rs190855421	G	A	209.2	PASS	TNXB	tenascin XB	exonic	NM_019105	.	synonymous SNV	TNXB:NM_019105:exon29:c.C9756T:p.P3252P	ENST00000375247.2,ENST00000375244.3	.	6p21.33	.	.	.	.	.	rs190855421	.	.	0.0232558	0.0159	0.00319489	.	0.0012	0.0154	0.0232558	0.0180288371394	.	.	.	.	.	.	.	.	-0.363	-0.753	.	.	AC=5;AN=10;BQB=0.977848;DP4=15,44,20,48;DP=160;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.962849;SF=3,8,10,11,20;SGB=-0.691153;VDB=0.164699	GT:DP:DV:PL	.	.	.	0/1:30:18:255,0,231	.	.	.	.	0/1:21:10:191,0,255	.	0/1:26:11:255,0,255	0/1:20:13:255,0,191	.	.	.	.	.	.	.	.	0/1:30:16:255,0,255	.	.	.	.	G	A	0	5	Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3); Vesicoureteral reflux 8, 615963 (3)	.	.	.	23768946|23620400|15733269|12865992|12354783|11925569|11642233|11342567|9795100|9288108|9288085|8923003|8530023|7686164|7512972|2475872|2315305|1383086|1373808|1373119	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_METABOLIC_PROCESS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	INTEGRIN_BINDING;CARBOHYDRATE_BINDING;HEPARIN_BINDING;POLYSACCHARIDE_BINDING;PROTEIN_COMPLEX_BINDING;RECEPTOR_BINDING;PATTERN_BINDING;GLYCOSAMINOGLYCAN_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	.	
H	6	32065890	rs184878358	C	T	222	PASS	TNXB	tenascin XB	exonic	NM_019105	.	missense SNV	TNXB:NM_019105:exon2:c.G86A:p.R29Q	ENST00000479795.1,ENST00000375247.2,ENST00000375244.3	.	6p21.33	.	.	.	.	.	rs184878358	.	.	0.0249169	0.0188	0.00698882	8.2e-05	0.0034	0.0167	0.0191423750383	0.0192307388221	0.0,D	0.986,D	0.998,D	0.980916,N	0.001041,N	.	-3.21,D	13.1555	2.465	1.898	6.499130,31	4.77	AC=6;AN=12;BQB=0.500862;DP4=163,66,130,62;DP=596;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.600639;SF=3,8,10,11,15,20;SGB=-0.69311;VDB=0.31226	GT:DP:DV:PL	.	.	.	0/1:68:31:255,0,255	.	.	.	.	0/1:66:33:255,0,255	.	0/1:74:37:255,0,255	0/1:58:28:255,0,255	.	.	.	0/1:71:29:255,0,255	.	.	.	.	0/1:84:34:255,0,255	.	.	.	.	C	T	0	6	Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3); Vesicoureteral reflux 8, 615963 (3)	.	.	.	23768946|23620400|15733269|12865992|12354783|11925569|11642233|11342567|9795100|9288108|9288085|8923003|8530023|7686164|7512972|2475872|2315305|1383086|1373808|1373119	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_METABOLIC_PROCESS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	INTEGRIN_BINDING;CARBOHYDRATE_BINDING;HEPARIN_BINDING;POLYSACCHARIDE_BINDING;PROTEIN_COMPLEX_BINDING;RECEPTOR_BINDING;PATTERN_BINDING;GLYCOSAMINOGLYCAN_BINDING	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	.	
L	6	32135136	rs2071289	C	A	222.86	PASS	EGFL8	EGF-like-domain, multiple 8	exonic	NM_030652	.	missense SNV	EGFL8:NM_030652:exon7:c.C611A:p.A204E	ENST00000422437.1,ENST00000395512.1,ENST00000333845.6	CpG: 49	6p21.32	.	.	.	.	.	rs2071289	.	.	0.0365449	0.0327	0.0153754	0.0031	0.0077	0.0369	0.0260337379786	0.0324519504808	0.29,T	0.319,B	0.856,P	0.570638,D	.	1.79,L	-2.5,D	7.7768	0.272	0.678	3.363532,22.9	2.7	AC=8;AN=14;BQB=0.884481;DP4=212,119,262,124;DP=907;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.867998;SF=2,3,8,10,11,15,20;SGB=-0.693147;VDB=0.760007	GT:DP:DV:PL	.	.	0/1:126:65:255,0,255	0/1:87:41:255,0,255	.	.	.	.	0/1:116:51:255,0,255	.	1/1:87:87:255,255,0	0/1:92:38:255,0,255	.	.	.	0/1:90:50:255,0,255	.	.	.	.	0/1:119:54:255,0,255	.	.	.	.	C	A	1	6	Epidermal growth factor-like 8	.	.	.		MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EMBRYONIC_DEVELOPMENT	.	.	.	.	.	.	
L	6	32184835	rs151131761	C	T	222	PASS	NOTCH4	notch 4	exonic	NM_004557	.	missense SNV	NOTCH4:NM_004557:exon11:c.G1748A:p.G583E	ENST00000375023.3	.	6p21.32	.	.	.	.	.	rs151131761	.	.	0.0315615	0.0218	0.0107827	0.0018	0.0061	0.0182	0.0214395324655	0.0276442572115	0.004,D	1.0,D	1.0,D	0.999995,D	0.000881,D	4.045,H	-3.77,D	13.743	2.144	2.932	5.650398,26.7	3.89	AC=7;AN=14;BQB=0.890879;DP4=123,105,114,100;DP=561;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961606;SF=2,3,8,10,11,15,20;SGB=-0.692914;VDB=0.263921	GT:DP:DV:PL	.	.	0/1:62:25:255,0,255	0/1:63:37:255,0,255	.	.	.	.	0/1:53:22:255,0,255	.	0/1:73:33:255,0,255	0/1:63:36:255,0,255	.	.	.	0/1:51:24:255,0,255	.	.	.	.	0/1:77:37:255,0,255	.	.	.	.	C	T	0	7	Notch, Drosophila, homolog of, 4	.	.	.	18667694|15123653|11381258|11381257|10932176|10837027|9693032|9168133|8681805|7835890	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;TUBE_MORPHOGENESIS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PATTERN_SPECIFICATION_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TUBE_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_CELL_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;ANGIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;VASCULATURE_DEVELOPMENT;EMBRYONIC_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;GLAND_DEVELOPMENT;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;CELL_FATE_COMMITMENT	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NUCLEUS;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	PP3
H	6	32188853	rs192478549	C	T	222	PASS	NOTCH4	notch 4	exonic	NM_004557	.	missense SNV	NOTCH4:NM_004557:exon4:c.G701A:p.R234Q	ENST00000375023.3	.	6p21.32	.	.	.	.	.	rs192478549	.	.	0.0249169	0.0169	0.00339457	.	0.0011	0.0155	0.018376707657	0.0192307388221	0.217,T	0.013,B	0.027,B	1,N	0.776695,N	0.58,N	2.78,T	6.5036	-0.530	-2.162	1.086760,11.14	.	AC=6;AN=12;BQB=0.983696;DP4=167,90,141,70;DP=605;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.408979;SF=2,3,8,10,11,20;SGB=-0.693145;VDB=0.0773499	GT:DP:DV:PL	.	.	0/1:72:40:255,0,255	0/1:85:35:255,0,255	.	.	.	.	0/1:74:38:255,0,255	.	0/1:87:34:255,0,255	0/1:74:30:255,0,255	.	.	.	.	.	.	.	.	0/1:76:34:255,0,255	.	.	.	.	C	T	0	6	Notch, Drosophila, homolog of, 4	.	.	.	18667694|15123653|11381258|11381257|10932176|10837027|9693032|9168133|8681805|7835890	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;TUBE_MORPHOGENESIS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PATTERN_SPECIFICATION_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TUBE_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_CELL_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;ANGIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;VASCULATURE_DEVELOPMENT;EMBRYONIC_DEVELOPMENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;GLAND_DEVELOPMENT;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;CELL_FATE_COMMITMENT	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NUCLEUS;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_PRE_NOTCH_PROCESSING_IN_GOLGI;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	
L	6	32629210	rs1130429	C	T	212.5	PASS	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	exonic	NM_001243961,NM_002123	.	missense SNV	HLA-DQB1:NM_001243961:exon4:c.G686A:p.S229N,HLA-DQB1:NM_002123:exon4:c.G686A:p.S229N	ENST00000434651.2,ENST00000399084.1,ENST00000399079.3,ENST00000374943.4,ENST00000399082.3,ENST00000443574.1	.	6p21.32	.	.	.	.	.	rs1130429	.	.	0.107973	0.1062	0.0439297	0.0013	0.0002	0.0008	0.107973	0.10216315024	0.049,D	0.023,B	0.007,B	1,D	0.002400,U	1.17,L	5.94,T	9.0182	2.196	2.445	2.425887,18.99	4.77	AC=13;AN=20;BQB=0.30973;DP4=96,19,178,26;DP=422;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.322175;MQSB=0.994334;RPB=0.430955;SF=2,3,5,8,10,11,12,16,20,21;SGB=-0.688148;VDB=0.279217	GT:DP:DV:PL	.	.	0/1:26:15:227,0,211	0/1:34:19:255,0,235	.	1/1:34:34:255,102,0	.	.	0/1:33:15:255,0,255	.	0/1:30:13:225,0,255	0/1:38:18:227,0,255	1/1:26:26:255,78,0	.	.	.	0/1:38:18:240,0,255	.	.	.	1/1:28:28:255,84,0	0/1:32:18:243,0,255	.	.	.	C	T	3	7	{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Celiac disease, susceptibility to}, 212750 (3)	.	.	.	23710940|19223392|18004301|16393997|15096192|14769912|14669136|12905478|12473762|12436116|11713518|10775108|10609818|10084595|9456467|9438744|8986816|8710911|8052655|7632970|3309680|2783780|2300572|2050393	.	.	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	.	
L	6	32974907	rs148523502	G	A	222	PASS	HLA-DOA	major histocompatibility complex, class II, DO alpha	exonic	NM_002119	.	synonymous SNV	HLA-DOA:NM_002119:exon4:c.C699T:p.L233L	ENST00000229829.5,ENST00000450833.2	.	6p21.32	.	.	.	.	.	rs148523502	.	.	0.00166113	0.001	0.00219649	7.7e-05	0.0006	0.0006	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.466	-1.044	1.440163,13.00	.	AC=1;AN=2;BQB=0.976679;DP4=22,15,21,17;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0820958;SF=20;SGB=-0.693143;VDB=0.0894921	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:38:255,0,255	.	.	.	.	G	A	0	1	Major histocompatibility complex, class II, DN alpha	.	.	.	6328517|3315095|3000765	.	MEMBRANE;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION;KEGG_TYPE_I_DIABETES_MELLITUS;KEGG_LEISHMANIA_INFECTION;KEGG_ASTHMA;KEGG_AUTOIMMUNE_THYROID_DISEASE;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS;KEGG_ALLOGRAFT_REJECTION;KEGG_GRAFT_VERSUS_HOST_DISEASE;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
H	6	34495239	rs201041422	A	G	222	PASS	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	exonic	NM_001199583,NM_020804	.	missense SNV	PACSIN1:NM_001199583:exon3:c.A194G:p.K65R,PACSIN1:NM_020804:exon3:c.A194G:p.K65R	ENST00000374043.2,ENST00000244458.2,ENST00000486120.1,ENST00000538621.1	CpG: 37	6p21.31	.	.	.	.	.	rs201041422	.	.	0.0149502	0.0099	0.00199681	.	0.0019	0.0245	0.0191424499234	0.0132211777644	0.52,T	0.077,B	0.045,B	1,D	0.000004,D	1.845,L	0.76,T	14.0791	1.985	7.206	2.697311,20.8	4.75	AC=4;AN=8;BQB=0.729423;DP4=96,52,80,54;DP=417;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.877757;SF=7,13,19,20;SGB=-0.693097;VDB=0.000464995	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:67:30:255,0,255	.	.	.	.	.	0/1:90:42:255,0,255	.	.	.	.	.	0/1:48:25:255,0,255	0/1:77:37:255,0,255	.	.	.	.	A	G	0	4	Protein kinase C and casein kinase substrate in neurons 1	.	.	.	23035120|12354780|11179684|10718198	.	.	.	.	.	.	.	
L	6	35248991	rs76952654	A	G	217.5	PASS	ZNF76	zinc finger protein 76	exonic	NM_001292032,NM_003427	.	synonymous SNV	ZNF76:NM_001292032:exon2:c.A63G:p.Q21Q,ZNF76:NM_003427:exon2:c.A63G:p.Q21Q	ENST00000339411.5,ENST00000373953.3,ENST00000440666.2	.	6p21.31	.	.	Score=743;Name=V$PPARA_01	.	.	rs76952654	.	.	0.0199336	0.0218	0.00599042	0.0006	0.0022	0.0176	0.0229709341501	0.0168269551683	.	.	.	.	.	.	.	.	0.048	0.176	.	.	AC=4;AN=8;BQB=0.61017;DP4=27,44,20,32;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.381285;SF=5,6,20,23;SGB=-0.692067;VDB=0.110129	GT:DP:DV:PL	.	.	.	.	.	0/1:38:20:255,0,255	0/1:25:11:238,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:9:255,0,255	.	.	0/1:36:12:255,0,255	.	A	G	0	4	Zinc finger protein-76 (expressed in testis)	.	.	.	9705341|1427894	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_III_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	.	.	.	.	.	
H	6	35855851	rs191493313	C	A	222	PASS	SRPK1	SRSF protein kinase 1	exonic	NM_003137	.	missense SNV	SRPK1:NM_003137:exon5:c.G340T:p.A114S	ENST00000423325.2,ENST00000373822.1,ENST00000373821.2,ENST00000373825.2	.	6p21.31	.	.	.	.	.	rs191493313	.	.	0.00166113	0.001	0.000199681	.	9.277e-06	0.0001	0.001531391317	0.00166113	0.005,D	0.999,D	0.998,D	1,D	.	0.055,N	-0.08,T	17.2322	2.599	7.587	6.902961,33	5	AC=1;AN=2;BQB=0.885207;DP4=16,2,11,3;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.126804;SF=20;SGB=-0.686358;VDB=0.268133	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:14:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CHROMOSOME_SEGREGATION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RNA_PROCESSING;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;MRNA_PROCESSING_GO_0006397;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;MRNA_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;RNA_SPLICING;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASM;NUCLEUS	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	.	.	.	
L	6	37447798	rs116926451	C	T	222	PASS	CMTR1	cap methyltransferase 1	exonic	NM_015050	.	synonymous SNV	CMTR1:NM_015050:exon24:c.C2385T:p.Y795Y	ENST00000373451.4	.	6p21.2	.	.	.	.	.	rs116926451	.	.	0.0232558	0.0258	0.00519169	7.7e-05	0.0017	0.0223	0.0168453032159	0.0240384634615	.	.	.	.	.	.	.	.	2.688	1.441	.	5.16	AC=2;AN=4;BQB=0.919651;DP4=24,20,25,19;DP=119;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.159863;SF=10,20;SGB=-0.692067;VDB=0.904348	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:38:20:255,0,255	.	.	.	.	.	.	.	.	.	0/1:50:24:255,0,255	.	.	.	.	C	T	0	2	CAP methyltransferase 1	.	.	.	21310715|20713356|18533109|7788527	.	.	.	.	.	.	.	
L	6	38816505	rs61748643	C	T	136	PASS	DNAH8	dynein, axonemal, heavy chain 8	exonic	NM_001206927	.	synonymous SNV	DNAH8:NM_001206927:exon37:c.C5127T:p.L1709L	ENST00000441566.1,ENST00000359357.3,ENST00000449981.2	.	6p21.2	.	.	.	.	.	rs61748643	.	.	0.0348837	0.0308	0.0161741	0.0095	0.0131	0.0223	0.0283307860643	0.0288461447115	.	.	.	.	.	.	.	.	-2.873	-0.124	1.538564,13.52	.	AC=1;AN=2;BQB=0.444739;DP4=7,0,8,0;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.993326;SF=20;SGB=-0.651104;VDB=0.338107	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:8:169,0,197	.	.	.	.	C	T	0	1	Dynein, axonemal, heavy chain 8	.	.	.	24307375|15937072|9373155|9256245	.	.	.	.	.	.	.	
L	6	38843591	rs755014464	T	C	219	PASS	DNAH8	dynein, axonemal, heavy chain 8	exonic	NM_001206927	.	synonymous SNV	DNAH8:NM_001206927:exon53:c.T7845C:p.Y2615Y	ENST00000441566.1,ENST00000359357.3,ENST00000449981.2	.	6p21.2	.	.	.	.	.	rs755014464	.	.	.	.	.	.	1.662e-05	0.0002	.	.	.	.	.	.	.	.	.	.	1.056	0.445	.	4.68	AC=1;AN=2;BQB=0.367879;DP4=1,5,3,6;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.64118;SF=20;SGB=-0.662043;VDB=0.497855	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:9:252,0,130	.	.	.	.	T	C	0	1	Dynein, axonemal, heavy chain 8	.	.	.	24307375|15937072|9373155|9256245	.	.	.	.	.	.	.	
L	6	38899643	rs75954496	T	A	222	PASS	DNAH8	dynein, axonemal, heavy chain 8	exonic	NM_001206927	.	synonymous SNV	DNAH8:NM_001206927:exon76:c.T11331A:p.T3777T	ENST00000441566.1,ENST00000359357.3,ENST00000416948.1,ENST00000453417.1,ENST00000449981.2	.	6p21.2	.	.	Score=820;Name=V$E4BP4_01	.	.	rs75954496	.	.	0.0348837	0.0327	0.0223642	0.0086	0.0143	0.0244	0.029862174732	0.0300480605769	.	.	.	.	.	.	.	.	-1.662	-0.507	.	.	AC=2;AN=4;BQB=0.941765;DP4=26,3,29,5;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898825;SF=16,20;SGB=-0.680642;VDB=0.0591826	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:255,0,255	.	.	.	0/1:39:22:255,0,255	.	.	.	.	T	A	0	2	Dynein, axonemal, heavy chain 8	.	.	.	24307375|15937072|9373155|9256245	.	.	.	.	.	.	.	
L	6	41037876	rs115264645	A	G	186.33	PASS	OARD1	O-acyl-ADP-ribose deacylase 1	splicing	NM_145063	NM_145063:exon4:c.185-3T>C	.	.	ENST00000482515.1,ENST00000486443.1,ENST00000479950.1,ENST00000373154.2,ENST00000244558.9,ENST00000424266.2,ENST00000468811.1,ENST00000464633.1,ENST00000463088.1,ENST00000480585.1	.	6p21.1	.	.	.	.	.	rs115264645	.	.	0.0116279	0.0099	0.0261581	0.0311	0.0364	0.0091	0.0116279	0.0132211475962	.	.	.	.	.	.	.	.	1.018	1.693	1.740728,14.64	4.62	AC=4;AN=6;BQB=0.881841;DP4=7,9,15,26;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.826565;SF=0,1,20;SGB=-0.680642;VDB=0.173998	GT:DP:DV:PL	0/1:20:12:255,0,203	0/1:17:9:142,0,241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:20:20:255,60,0	.	.	.	.	A	G	1	2	Chromosome 6 open reading frame 130	.	.	.	21849506	.	.	.	.	.	.	.	
L	6	41121764	rs745437462	C	A	228	PASS	TREML1	triggering receptor expressed on myeloid cells-like 1	exonic	NM_001271807,NM_178174	.	synonymous SNV	TREML1:NM_001271807:exon2:c.G108T:p.V36V,TREML1:NM_178174:exon2:c.G108T:p.V36V	ENST00000373127.4,ENST00000437044.2,ENST00000426005.2	.	6p21.1	.	.	.	.	.	rs745437462	.	.	.	.	.	.	8.338e-06	0.0001	.	.	.	.	.	.	.	.	.	.	0.400	0.221	1.014837,10.75	2.13	AC=2;AN=2;DP4=0,0,52,47;DP=136;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.000289568	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:99:99:255,255,0	.	.	.	.	C	A	1	0	Triggering receptor expressed on myeloid cells-like protein 1	.	.	.	15128762|12645956|12393607	.	.	.	.	.	.	.	
L	6	42713050	rs2234030	C	A	225	PASS	TBCC	tubulin folding cofactor C	exonic	NM_003192	.	synonymous SNV	TBCC:NM_003192:exon1:c.G762T:p.L254L	ENST00000244625.2,ENST00000372876.1	.	6p21.1	.	.	.	.	.	rs2234030	.	.	0.0265781	0.0407	0.00998403	0.0002	0.0052	0.0457	0.0375191548239	0.0336538620192	.	.	.	.	.	.	.	.	0.653	0.515	1.197751,11.74	3.33	AC=3;AN=4;BQB=0.967531;DP4=9,7,23,20;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.867289;SF=12,20;SGB=-0.688148;VDB=0.125803	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:15:255,0,255	.	.	.	.	.	.	.	1/1:28:28:255,84,0	.	.	.	.	C	A	1	1	Tubulin-specific chaperone C	.	.	.	12417528|8706133|8096061|7910827|4124164	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
L	6	42713223	rs2234029	T	G	208.5	PASS	TBCC	tubulin folding cofactor C	exonic	NM_003192	.	synonymous SNV	TBCC:NM_003192:exon1:c.A589C:p.R197R	ENST00000244625.2,ENST00000372876.1	CpG: 67	6p21.1	.	.	.	.	.	rs2234029	.	.	0.0265781	0.0407	0.0101837	0.0007	0.0056	0.0485	0.0375191548239	0.0336538620192	.	.	.	.	.	.	.	.	0.318	0.211	.	.	AC=3;AN=4;BQB=0.339883;DP4=8,5,19,9;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.955854;SF=12,20;SGB=-0.662043;VDB=0.92179	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:222,0,255	.	.	.	.	.	.	.	1/1:19:19:255,57,0	.	.	.	.	T	G	1	1	Tubulin-specific chaperone C	.	.	.	12417528|8706133|8096061|7910827|4124164	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
L	6	42713274	rs2234028	G	A	205	PASS	TBCC	tubulin folding cofactor C	exonic	NM_003192	.	missense SNV	TBCC:NM_003192:exon1:c.C538T:p.P180S	ENST00000244625.2,ENST00000372876.1	CpG: 67	6p21.1	.	.	Score=951;Name=V$AP4_Q6	.	.	rs2234028	.	.	0.0265781	0.0407	0.0191693	0.0092	0.0082	0.0481	0.0375191548239	0.0336538620192	0.865,T	0.0,B	0.0,B	1,N	0.826177,N	-0.895,N	-0.91,T	1.1351	-0.187	0.165	.	.	AC=3;AN=4;BQB=0.980133;DP4=7,6,15,10;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.800143;SF=12,20;SGB=-0.662043;VDB=0.151038	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:215,0,255	.	.	.	.	.	.	.	1/1:16:16:255,48,0	.	.	.	.	G	A	1	1	Tubulin-specific chaperone C	.	.	.	12417528|8706133|8096061|7910827|4124164	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
L	6	42713307	rs2234027	G	A	214.5	PASS	TBCC	tubulin folding cofactor C	exonic	NM_003192	.	missense SNV	TBCC:NM_003192:exon1:c.C505T:p.P169S	ENST00000244625.2,ENST00000372876.1	CpG: 67	6p21.1	.	.	.	.	.	rs2234027	.	.	0.0265781	0.0407	0.0101837	0.0006	0.0059	0.0490	0.0375191548239	0.0336538620192	0.375,T	0.002,B	0.004,B	1,N	0.000405,D	1.055,L	-0.91,T	7.4381	-0.026	-0.362	.	.	AC=3;AN=4;BQB=0.976181;DP4=9,6,27,12;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.694486;SF=12,20;SGB=-0.680642;VDB=0.331212	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:234,0,255	.	.	.	.	.	.	.	1/1:27:27:255,81,0	.	.	.	.	G	A	1	1	Tubulin-specific chaperone C	.	.	.	12417528|8706133|8096061|7910827|4124164	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
L	6	42713779	rs2234024	G	A	225	PASS	TBCC	tubulin folding cofactor C	exonic	NM_003192	.	synonymous SNV	TBCC:NM_003192:exon1:c.C33T:p.V11V	ENST00000244625.2,ENST00000372876.1	CpG: 67	6p21.1	.	.	.	.	.	rs2234024	.	.	0.0265781	0.0407	0.0191693	0.0098	0.0084	0.0458	0.0265781	0.0336538620192	.	.	.	.	.	.	.	.	-0.560	-1.130	.	.	AC=3;AN=4;BQB=0.752089;DP4=6,21,31,43;DP=128;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934533;SF=12,20;SGB=-0.692831;VDB=0.19598	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:24:255,0,255	.	.	.	.	.	.	.	1/1:50:50:255,151,0	.	.	.	.	G	A	1	1	Tubulin-specific chaperone C	.	.	.	12417528|8706133|8096061|7910827|4124164	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
L	6	43098295	rs56350986	A	G	228	PASS	PTK7	protein tyrosine kinase 7 (inactive)	exonic	NM_001270398,NM_002821,NM_152880,NM_152881,NM_152882	.	synonymous SNV	PTK7:NM_001270398:exon5:c.A732G:p.V244V,PTK7:NM_002821:exon5:c.A708G:p.V236V,PTK7:NM_152880:exon5:c.A708G:p.V236V,PTK7:NM_152881:exon5:c.A708G:p.V236V,PTK7:NM_152882:exon5:c.A708G:p.V236V	ENST00000345201.2,ENST00000352931.2,ENST00000349241.2,ENST00000230419.4,ENST00000471863.1,ENST00000481273.1	.	6p21.1	.	.	.	.	.	rs56350986	.	.	0.0116279	0.0119	0.00259585	.	0.0007	0.0090	0.00689126833078	0.0116279	.	.	.	.	.	.	.	.	0.334	0.970	.	2.99	AC=2;AN=2;DP4=0,0,35,22;DP=78;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.128394	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:57:57:255,172,0	.	.	.	.	A	G	1	0	PTK7 protein tyrosine kinase 7	.	.	.	15229603|9154124|8882711|8247543|7478540	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
H	6	47649383	rs193008567	G	C	228	PASS	ADGRF2	adhesion G protein-coupled receptor F2	exonic	NM_153839	.	missense SNV	ADGRF2:NM_153839:exon7:c.G884C:p.G295A	ENST00000398742.2,ENST00000507065.1,ENST00000296862.1	.	6p12.3	.	.	.	.	.	rs193008567	.	.	0.00166113	0.001	0.000199681	.	1.656e-05	0.0002	0.001531391317	0.00166113	0.004,D	0.968,D	0.999,D	0.645652,N	0.000006,D	3.2,M	1.05,T	18.4281	2.598	4.821	4.208396,23.9	5.52	AC=2;AN=2;DP4=0,0,17,10;DP=40;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693021;VDB=0.470735	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:27:27:255,81,0	.	.	.	.	G	C	1	0	.	.	.	.		.	.	.	.	.	.	.	PP3
H	6	51921514	rs141384205	G	A	200	PASS	PKHD1	polycystic kidney and hepatic disease 1 (autosomal recessive)	exonic	NM_138694,NM_170724	.	missense SNV	PKHD1:NM_138694:exon18:c.C1675T:p.R559W,PKHD1:NM_170724:exon18:c.C1675T:p.R559W	ENST00000340994.4,ENST00000371117.3	.	6p12.2	.	.	.	.	.	rs141384205	.	.	0.038206	0.0337	0.00698882	.	0.0015	0.0202	0.0283308098009	0.0384615432692	0.214,T	0.004,B	0.017,B	1,N	0.943106,N	0.65,N	-2.28,D	4.9998	-0.035	0.512	1.880633,15.47	.	AC=3;AN=4;BQB=0.692539;DP4=10,2,36,6;DP=71;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.821851;SF=4,20;SGB=-0.670168;VDB=0.910125	GT:DP:DV:PL	.	.	.	.	0/1:22:10:205,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:32:32:255,96,0	.	.	.	.	G	A	1	1	Polycystic kidney and hepatic disease, 263200 (3)	.	.	.	21685914|21274727|20554582|19021639|17470460|16959974|16523049|16133180|15706593|15108281|15108277|15067314|14983006|12925574|12506140|11919560|11898128|11337358|11135065|7726165	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;CELL_CELL_ADHESION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS	CELL_PROJECTION_PART;INTRINSIC_TO_PLASMA_MEMBRANE;EXTERNAL_SIDE_OF_PLASMA_MEMBRANE;CELL_SURFACE;MICROTUBULE_CYTOSKELETON;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ANCHORED_TO_MEMBRANE;CELL_PROJECTION;APICAL_PART_OF_CELL;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;APICAL_PLASMA_MEMBRANE;ANCHORED_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
L	6	55360250	rs772836157	T	A	222	PASS	HMGCLL1	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	exonic	NM_001042406,NM_001287741,NM_001287746,NM_001287753,NM_019036	.	synonymous SNV	HMGCLL1:NM_001287753:exon4:c.A453T:p.G151G,HMGCLL1:NM_001287741:exon6:c.A666T:p.G222G,HMGCLL1:NM_001042406:exon7:c.A762T:p.G254G,HMGCLL1:NM_001287746:exon8:c.A465T:p.G155G,HMGCLL1:NM_019036:exon8:c.A852T:p.G284G	ENST00000508459.1,ENST00000398661.2,ENST00000370850.2,ENST00000274901.4,ENST00000308161.4	.	6p12.1	.	.	.	.	.	rs772836157	.	.	.	.	.	.	8.284e-06	0.0001	.	.	.	.	.	.	.	.	.	.	2.133	0.710	.	4.26	AC=1;AN=2;BQB=0.883818;DP4=14,6,14,4;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.773742;SF=20;SGB=-0.691153;VDB=0.404547	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:18:255,0,255	.	.	.	.	T	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	6	62688037	rs199618992	A	C	222	PASS	KHDRBS2	KH domain containing, RNA binding, signal transduction associated 2	exonic	NM_152688	.	synonymous SNV	KHDRBS2:NM_152688:exon4:c.T417G:p.A139A	ENST00000281156.4	.	6q11.1	.	.	Score=886;Name=V$HNF3B_01	.	.	rs199618992	.	.	0.00830565	0.006	0.00119808	.	0.0005	0.0070	0.0114854282542	0.00721154110577	.	.	.	.	.	.	.	.	0.052	0.890	.	.	AC=1;AN=2;BQB=0.0504553;DP4=12,3,12,2;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.291043;SF=20;SGB=-0.686358;VDB=0.0342837	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:14:255,0,255	.	.	.	.	A	C	0	1	KH domain-containing, RNA-binding, signal transduction-associated protein 2	.	.	.	12529443	.	.	.	.	.	.	.	
L	6	72889549	rs116476753	C	T	223	PASS	RIMS1	regulating synaptic membrane exocytosis 1	exonic	NM_014989	.	missense SNV	RIMS1:NM_014989:exon5:c.C743T:p.S248L	ENST00000520567.1,ENST00000491071.2,ENST00000348717.5,ENST00000521978.1,ENST00000522291.1,ENST00000517960.1,ENST00000264839.7,ENST00000518273.1	.	6q13	.	.	.	.	.	rs116476753	.	.	0.0481728	0.0427	0.0309505	0.0117	0.0149	0.0488	0.0482389415008	0.0456730980769	0.029,D	0.085,B	0.765,P	0.999999,N	0.029688,N	2.095,M	2.44,T	14.9639	1.485	2.026	1.624075,13.98	5.02	AC=7;AN=12;BQB=0.990609;DP4=90,65,129,90;DP=526;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.116095;SF=4,8,10,12,20,24;SGB=-0.693145;VDB=0.000155313	GT:DP:DV:PL	.	.	.	.	0/1:79:41:255,0,255	.	.	.	0/1:66:32:255,0,255	.	1/1:79:79:255,238,0	.	0/1:41:18:255,0,255	.	.	.	.	.	.	.	0/1:42:17:255,0,255	.	.	.	0/1:67:32:255,0,255	C	T	1	5	Cone-rod dystrophy 7, 603649 (3)	.	.	.	17553427|15967982|15543142|15066271|14532002|12659814|12620390|11797010|11797009|11438518|11343654|10748113|10748113|9634506|9205841	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;SECRETORY_PATHWAY;SECRETION_BY_CELL;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;CELL_CELL_SIGNALING;REGULATION_OF_NEUROTRANSMITTER_LEVELS;CELLULAR_COMPONENT_ASSEMBLY;SYNAPTIC_TRANSMISSION;REGULATED_SECRETORY_PATHWAY;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SECRETION;GENERATION_OF_A_SIGNAL_INVOLVED_IN_CELL_CELL_SIGNALING;PROTEIN_COMPLEX_ASSEMBLY;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;EXOCYTOSIS;CELLULAR_LOCALIZATION;NEUROTRANSMITTER_SECRETION;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	SYNAPSE_PART;MEMBRANE;SYNAPSE	GTPASE_REGULATOR_ACTIVITY;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	REACTOME_GLUTAMATE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_DOPAMINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_ACETYLCHOLINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_GABA_SYNTHESIS_RELEASE_REUPTAKE_AND_DEGRADATION	
H	6	75912547	.	C	A	222	PASS	COL12A1	collagen, type XII, alpha 1	splicing	NM_004370,NM_080645	.	.	.	ENST00000483888.2,ENST00000345356.6,ENST00000322507.8	.	6q14.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053	-0.497	1.472192,13.17	.	AC=1;AN=2;BQB=0.987655;DP4=4,14,5,18;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.567796;SF=20;SGB=-0.692717;VDB=0.182532	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:23:255,0,255	.	.	.	.	C	A	0	1	?Ullrich congenital muscular dystrophy 2, 616470 (3); Bethlem myopathy 2, 616471 (3)	.	.	.	24334769|24334604|21670218|9143499|3476925|1427837	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	.	PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	PM2
H	6	79607785	rs200096883	C	A	222	PASS	IRAK1BP1	interleukin-1 receptor-associated kinase 1 binding protein 1	exonic	NM_001010844	.	missense SNV	IRAK1BP1:NM_001010844:exon4:c.C517A:p.Q173K	ENST00000607739.1,ENST00000369940.2	.	6q14.1	.	.	.	.	.	rs200096883	.	.	0	0.001	0.000399361	.	0.0004	0.0050	0.00568182	0.00434783	0.116,T	0.003,B	0.001,B	0.991334,N	0.006041,N	2.295,M	.	7.5158	0.601	1.307	2.182793,17.40	3.1	AC=1;AN=2;BQB=0.582644;DP4=5,4,7,7;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982301;SF=20;SGB=-0.686358;VDB=0.884558	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:14:255,0,255	.	.	.	.	C	A	0	1	Interleukin 1 receptor-associated kinase 1-binding protein 1	.	.	.	17079333|15485901|11096118	SIGNAL_TRANSDUCTION;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	.	.	.	.	.	
L	6	80736148	rs2230510	A	G	222	PASS	TTK	TTK protein kinase	exonic	NM_001166691,NM_003318	.	synonymous SNV	TTK:NM_001166691:exon12:c.A1308G:p.P436P,TTK:NM_003318:exon12:c.A1311G:p.P437P	ENST00000230510.3,ENST00000509894.1,ENST00000515751.1,ENST00000369798.2	.	6q14.1	.	.	.	.	.	rs2230510	.	.	0.00664452	0.004	0.0359425	0.0445	0.0133	0.0034	0.0076569701072	0.00664452	.	.	.	.	.	.	.	.	-0.343	-0.206	0.955767,10.41	.	AC=1;AN=2;BQB=0.917222;DP4=11,3,12,4;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999136;SF=20;SGB=-0.689466;VDB=0.744357	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:16:255,0,255	.	.	.	.	A	G	0	1	TTK protein kinase	.	.	.	18083840|14657364|12481136|11461705|11461704|10366450|7737118|7678926|1639825	MITOTIC_CELL_CYCLE_CHECKPOINT;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;M_PHASE;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_MITOSIS;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELL_CYCLE_CHECKPOINT_GO_0000075;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;MITOTIC_SPINDLE_ORGANIZATION_AND_BIOGENESIS;MITOSIS;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;SPINDLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CELL_CYCLE	.	.	.	
L	6	84234102	rs139406931	C	T	222	PASS	PRSS35	protease, serine, 35	exonic	NM_001170423,NM_153362	.	synonymous SNV	PRSS35:NM_153362:exon2:c.C942T:p.N314N,PRSS35:NM_001170423:exon3:c.C942T:p.N314N	ENST00000536636.1,ENST00000369700.3	.	6q14.2	.	.	.	.	.	rs139406931	.	.	0.0182724	0.0129	0.00259585	7.7e-05	0.0010	0.0137	0.0137825294946	0.0180288266827	.	.	.	.	.	.	.	.	-1.074	-0.822	1.654901,14.15	.	AC=1;AN=2;BQB=0.948436;DP4=12,6,11,4;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.512077;SF=20;SGB=-0.688148;VDB=0.245766	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:15:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	6	88768503	rs117777526	G	A	183	PASS	SPACA1	sperm acrosome associated 1	exonic	NM_030960	.	missense SNV	SPACA1:NM_030960:exon4:c.G437A:p.R146H	ENST00000237201.1	.	6q15	.	.	.	.	.	rs117777526	.	.	0.00498339	0.005	0.00119808	7.7e-05	0.0005	0.0041	0.00612557339969	0.00721154540865	0.0,D	0.969,D	1.0,D	0.988258,D	0.000001,D	2.31,M	1.66,T	12.9309	1.498	4.272	5.725198,26.9	4.99	AC=2;AN=4;BQB=0.332178;DP4=16,6,12,3;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.316472;SF=11,20;SGB=-0.651104;VDB=0.0423326	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:23:8:227,0,255	.	.	.	.	.	.	.	.	0/1:14:7:205,0,222	.	.	.	.	G	A	0	2	Sperm acrosome-associated 1	.	.	.	11870081	.	.	.	.	.	.	.	PP3
H	6	90405706	rs115931523	G	A	47.42	PASS	MDN1	midasin AAA ATPase 1	exonic	NM_014611	.	missense SNV	MDN1:NM_014611:exon61:c.C9389T:p.T3130M	ENST00000428876.1,ENST00000369393.3	.	6q15	.	.	.	.	.	rs115931523	.	.	0.0332226	0.0258	0.00539137	7.7e-05	0.0013	0.0162	0.0332226	0.0264423133413	0.024,D	0.058,B	0.252,B	0.999991,D	0.000078,N	2.52,M	3.92,T	9.5577	0.568	5.223	3.158624,22.6	3.33	AC=1;AN=2;BQB=0.750668;DP4=2,3,2,1;DP=10;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.900802;MQSB=0.992367;RPB=0.900802;SF=20;SGB=-0.511536;VDB=0.11189	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:8:3:81,0,181	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	6	90642319	rs200505776	T	C	222	PASS	BACH2	BTB and CNC homology 1, basic leucine zipper transcription factor 2	exonic	NM_001170794,NM_021813	.	synonymous SNV	BACH2:NM_001170794:exon7:c.A2334G:p.G778G,BACH2:NM_021813:exon9:c.A2334G:p.G778G	ENST00000343122.3,ENST00000537989.1,ENST00000257749.4	.	6q15	.	.	Score=855;Name=V$NFKAPPAB50_01	.	.	rs200505776	.	.	0.00166113	0.001	0.000199681	.	4.968e-05	0.0006	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-2.198	-1.579	.	.	AC=1;AN=2;BQB=0.823935;DP4=14,17,18,10;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.907656;SF=20;SGB=-0.693054;VDB=0.886015	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:28:255,0,255	.	.	.	.	T	C	0	1	BTB and CNC homology 2	.	.	.	25686607|23728300|15152264|10949928|9755173|8887638	.	.	.	.	.	.	.	
H	6	111912857	rs758671281	G	C	222	PASS	TRAF3IP2	TRAF3 interacting protein 2	exonic	NM_001164281,NM_147200,NM_147686	.	missense SNV	TRAF3IP2:NM_001164281:exon2:c.C433G:p.L145V,TRAF3IP2:NM_147686:exon2:c.C433G:p.L145V,TRAF3IP2:NM_147200:exon3:c.C460G:p.L154V	ENST00000532353.1,ENST00000392556.4,ENST00000359831.4,ENST00000340026.6,ENST00000368761.5	.	6q21	.	.	.	.	.	rs758671281	.	.	.	.	.	.	8.243e-06	0.0001	0.00142045	.	0.007,D	0.975,D	0.999,D	1,D	0.003027,N	1.625,L	0.61,T	13.6988	2.809	3.702	4.636350,24.5	5.91	AC=1;AN=2;BQB=0.987087;DP4=10,14,22,9;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0910399;SF=20;SGB=-0.69311;VDB=0.496859	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:31:255,0,255	.	.	.	.	G	C	0	1	{Psoriasis susceptibility 13}, 614070 (3); ?Candidiasis, familial, 8, 615527 (3)	.	.	.	24120361|23355738|22581863|20953188|20953186|20660351|17277779|12706892|10962033|10962024|10903453	POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;SIGNAL_TRANSDUCTION;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;REGULATION_OF_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;PROTEIN_KINASE_CASCADE;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	.	.	.	.	.	.	
L	6	116265422	rs56259384	A	C	222	PASS	FRK	fyn-related Src family tyrosine kinase	exonic	NM_002031	.	synonymous SNV	FRK:NM_002031:exon6:c.T1125G:p.L375L	ENST00000538210.1,ENST00000606080.1	.	6q22.1	.	.	Score=823;Name=V$PPARG_03	.	.	rs56259384	.	.	.	.	.	.	1.669e-05	0.0002	0.00142045	.	.	.	.	.	.	.	.	.	0.415	0.913	.	2.04	AC=1;AN=2;BQB=0.990277;DP4=23,1,14,4;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946877;SF=20;SGB=-0.691153;VDB=0.140666	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:18:255,0,255	.	.	.	.	A	C	0	1	FYN-related kinase	.	.	.	12077350|10878015|8099900|7696183|7510261	BIOPOLYMER_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	NUCLEUS	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;NON_MEMBRANE_SPANNING_PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
H	6	117150125	rs78492331	A	G	222	PASS	GPRC6A	G protein-coupled receptor, class C, group 6, member A	exonic	NM_001286354,NM_001286355,NM_148963	.	missense SNV	GPRC6A:NM_001286354:exon1:c.T52C:p.S18P,GPRC6A:NM_001286355:exon1:c.T52C:p.S18P,GPRC6A:NM_148963:exon1:c.T52C:p.S18P	ENST00000310357.3,ENST00000530250.1,ENST00000368549.3	.	6q22.1	.	.	.	.	.	rs78492331	.	.	0.0149502	0.0149	0.00299521	.	0.0009	0.0117	0.0114854688515	0.0132211777644	0.015,D	0.773,P	0.985,D	1,N	0.148000,U	2.28,M	-2.56,D	5.997	2.108	0.825	4.252273,23.9	4.98	AC=1;AN=2;BQB=0.965605;DP4=3,7,4,6;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.571209;SF=20;SGB=-0.670168;VDB=0.173849	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:10:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_GPCR_LIGAND_BINDING	
H	6	117591781	rs200640805	C	A	222	PASS	VGLL2	vestigial-like family member 2	exonic	NM_182645	.	missense SNV	VGLL2:NM_182645:exon3:c.C467A:p.P156Q	ENST00000352536.3,ENST00000326274.5	CpG: 69	6q22.1	.	.	.	.	.	rs200640805	.	.	0.013289	0.0188	0.00379393	.	0.0022	0.0273	0.0114854339357	0.0144230492788	0.01,D	0.001,B	0.0,B	1,D	0.290274,N	1.2,L	0.91,T	10.1708	1.146	3.630	4.377229,24.1	4.31	AC=4;AN=8;BQB=0.612676;DP4=43,34,42,37;DP=216;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.679025;SF=4,16,17,20;SGB=-0.692067;VDB=0.018555	GT:DP:DV:PL	.	.	.	.	0/1:30:20:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:34:16:255,0,255	0/1:40:17:255,0,255	.	.	0/1:52:26:255,0,255	.	.	.	.	C	A	0	4	Vestigial-like 2	.	.	.	14762206|12376544	.	.	.	.	.	.	.	
L	6	117861923	rs35230921	A	G	221.67	PASS	DCBLD1	discoidin, CUB and LCCL domain containing 1	exonic	NM_173674	.	synonymous SNV	DCBLD1:NM_173674:exon10:c.A1194G:p.T398T	ENST00000338728.5,ENST00000534777.1,ENST00000368503.4,ENST00000296955.8,ENST00000467125.1	.	6q22.1	.	.	.	.	.	rs35230921	.	.	0.0315615	0.0367	0.0303514	0.0365	0.0427	0.0499	0.0315615	0.0264423413462	.	.	.	.	.	.	.	.	-1.992	-0.504	.	.	AC=3;AN=6;BQB=0.974573;DP4=29,17,46,20;DP=159;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.570697;SF=13,17,20;SGB=-0.692831;VDB=0.360777	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:24:255,0,255	.	.	.	0/1:22:16:255,0,182	.	.	0/1:52:26:255,0,255	.	.	.	.	A	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	6	118014326	rs28362519	T	A	222	PASS	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	exonic	NM_138459	.	missense SNV	NUS1:NM_138459:exon2:c.T537A:p.D179E	ENST00000368494.3	.	6q22.1	.	.	.	.	.	rs28362519	.	.	0.00830565	0.0099	0.00199681	.	0.0007	0.0095	0.0160796481623	0.0096153921875	0.731,T	0.006,B	0.007,B	0.917785,D	0.000005,N	1.48,L	2.36,T	6.7153	0.910	0.528	1.196967,11.73	2.63	AC=2;AN=4;BQB=0.209668;DP4=38,6,32,5;DP=125;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.874406;MQSB=0.950514;RPB=0.954622;SF=20,24;SGB=-0.690438;VDB=0.698692	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	0/1:44:20:255,0,255	T	A	0	2	Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog of	.	.	.	16835300	.	.	.	.	.	.	.	
H	6	126333943	.	A	G	221	PASS	TRMT11	tRNA methyltransferase 11 homolog (S. cerevisiae)	exonic	NM_001031712	.	missense SNV	TRMT11:NM_001031712:exon10:c.A952G:p.R318G	ENST00000368332.3,ENST00000334379.5	.	6q22.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011,D	0.976,D	0.999,D	1,D	0.000000,D	2.27,M	0.83,T	12.5454	2.133	4.571	6.186024,28.6	5.61	AC=1;AN=2;BQB=0.998734;DP4=12,12,6,6;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.857878;SF=20;SGB=-0.680642;VDB=0.728304	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:12:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	KEGG_HISTIDINE_METABOLISM;KEGG_TYROSINE_METABOLISM;KEGG_SELENOAMINO_ACID_METABOLISM	.	.	.	PM2,PP3
H	6	126667455	rs199841005	C	T	221	PASS	CENPW	centromere protein W	exonic	NM_001012507,NM_001286524,NM_001286525	.	missense SNV	CENPW:NM_001286525:exon2:c.C191T:p.P64L	ENST00000368325.1,ENST00000368326.1,ENST00000368328.4	.	6q22.32	.	.	.	.	.	rs199841005	.	.	0	0.002	0.000399361	7.7e-05	0.0004	0.0055	0.00710227	0.00434783	0.0,D	.	.	1,D	.	.	.	4.5114	-0.243	-0.325	1.931839,15.78	.	AC=1;AN=2;BQB=0.726149;DP4=1,4,3,6;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.89683;SF=20;SGB=-0.662043;VDB=0.0232864	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:9:255,0,130	.	.	.	.	C	T	0	1	Centromeric protein W	.	.	.	22002061|21695110|17610844	.	.	.	.	.	.	.	
L	6	128505806	rs7768121	T	C	169.67	PASS	PTPRK	protein tyrosine phosphatase, receptor type, K	exonic	NM_001135648,NM_001291981,NM_001291982,NM_001291983,NM_001291984,NM_002844	.	synonymous SNV	PTPRK:NM_001291983:exon6:c.A546G:p.Q182Q,PTPRK:NM_001135648:exon7:c.A933G:p.Q311Q,PTPRK:NM_001291981:exon7:c.A933G:p.Q311Q,PTPRK:NM_001291982:exon7:c.A933G:p.Q311Q,PTPRK:NM_001291984:exon7:c.A933G:p.Q311Q,PTPRK:NM_002844:exon7:c.A933G:p.Q311Q	ENST00000368215.3,ENST00000524481.1,ENST00000368207.3,ENST00000368226.4,ENST00000368213.5,ENST00000532331.1,ENST00000368227.3,ENST00000368210.3	.	6q22.33	.	.	Score=867;Name=V$NKX61_01	.	.	rs7768121	.	.	0.038206	0.0317	0.0263578	0.0158	0.0150	0.0396	0.0382848630934	0.04567309375	.	.	.	1,D	.	.	.	21.4955	-0.847	0.271	.	.	AC=3;AN=6;BQB=0.668013;DP4=21,22,11,21;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.397189;SF=16,20,22;SGB=-0.683931;VDB=0.181842	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:13:255,0,255	.	.	.	0/1:34:15:255,0,255	.	0/1:13:4:99,0,235	.	.	T	C	0	3	Protein-tyrosine phosphatase, receptor type, kappa	.	.	.	19251594|9722959|9047348|8663237	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	.	PID_NFAT_TFPATHWAY	.	.	
L	6	131490310	rs772732667	A	G	222	PASS	AKAP7	A kinase (PRKA) anchor protein 7	exonic	NM_016377	.	synonymous SNV	AKAP7:NM_016377:exon5:c.A486G:p.K162K	ENST00000368123.4,ENST00000366358.2,ENST00000431975.2,ENST00000541650.1	.	6q23.2	.	.	.	.	.	rs772732667	.	.	.	.	.	.	8.243e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-0.122	0.130	.	.	AC=1;AN=2;BQB=0.980497;DP4=13,4,19,5;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989464;SF=20;SGB=-0.692831;VDB=0.0513893	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:24:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;TRANSPORT;ION_TRANSPORT;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;CYTOSOL;APICAL_PART_OF_CELL;APICAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	KINASE_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	.	.	.	.	
L	6	132791117	rs78603709	C	T	222	PASS	STX7	syntaxin 7	exonic	NM_003569	.	synonymous SNV	STX7:NM_003569:exon7:c.G510A:p.E170E	ENST00000367937.4,ENST00000367941.2	.	6q23.2	.	.	.	.	.	rs78603709	.	.	0.0664452	0.0556	0.0119808	0.0005	0.0038	0.0477	0.0513017071975	0.0600961771635	.	.	.	.	.	.	.	.	1.382	2.138	1.875681,15.44	4.48	AC=4;AN=8;BQB=0.332945;DP4=65,37,61,40;DP=303;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997449;SF=1,7,20,23;SGB=-0.692831;VDB=0.129346	GT:DP:DV:PL	.	0/1:53:24:255,0,255	.	.	.	.	.	0/1:47:23:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:26:255,0,255	.	.	0/1:58:28:255,0,255	.	C	T	0	4	Syntaxin 7	.	.	.	12218144|9358037	ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;CELLULAR_LOCALIZATION	.	.	KEGG_SNARE_INTERACTIONS_IN_VESICULAR_TRANSPORT	.	.	REACTOME_BOTULINUM_NEUROTOXICITY;REACTOME_PROTEOLYTIC_CLEAVAGE_OF_SNARE_COMPLEX_PROTEINS;REACTOME_NEURONAL_SYSTEM	
L	6	133118216	rs41286192	A	G	185.5	PASS	SLC18B1	solute carrier family 18, subfamily B, member 1	exonic	NM_052831	.	missense SNV	SLC18B1:NM_052831:exon2:c.T88C:p.S30P	ENST00000275227.4,ENST00000367918.1,ENST00000538764.1,ENST00000460518.1	.	6q23.2	.	.	.	.	.	rs41286192	.	.	0.0348837	0.0268	0.0377396	0.0235	0.0445	0.0368	0.0344563407351	0.0444711338942	0.005,D	0.091,B	0.248,B	0.999856,D	0.022625,N	2.19,M	0.27,T	7.6783	2.011	1.881	2.640763,20.4	4.04	AC=2;AN=4;BQB=0.887703;DP4=13,13,9,5;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.963903;SF=13,20;SGB=-0.616816;VDB=0.155969	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:6:199,0,255	.	.	.	.	.	.	0/1:24:8:238,0,255	.	.	.	.	A	G	0	2	Chromosome 6 open reading frame 192	.	.	.	19697161	.	.	.	.	.	.	.	
L	6	134494481	rs55957552	T	C	209	PASS	SGK1	serum/glucocorticoid regulated kinase 1	exonic	NM_001143676,NM_001143677,NM_001143678,NM_001291995,NM_005627	.	synonymous SNV	SGK1:NM_001143677:exon5:c.A432G:p.R144R,SGK1:NM_001143678:exon5:c.A390G:p.R130R,SGK1:NM_001291995:exon5:c.A348G:p.R116R,SGK1:NM_005627:exon5:c.A348G:p.R116R,SGK1:NM_001143676:exon7:c.A633G:p.R211R	ENST00000528577.1,ENST00000475719.2,ENST00000489458.2,ENST00000237305.7,ENST00000367857.5,ENST00000413996.3,ENST00000367858.5	.	6q23.2	.	.	Score=787;Name=V$PPARG_03	.	.	rs55957552	.	.	0.038206	0.0347	0.00958466	0.0003	0.0037	0.0419	0.0558958597243	0.04567309375	.	.	.	.	.	.	.	.	0.397	0.611	.	2.01	AC=3;AN=6;BQB=0.743893;DP4=20,23,15,21;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.758462;SF=9,14,20;SGB=-0.683931;VDB=0.310282	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:26:13:255,0,255	.	.	.	.	0/1:26:14:255,0,255	.	.	.	.	.	0/1:27:9:217,0,255	.	.	.	.	T	C	0	3	Serum/glucocorticoid-regulated kinase 1	.	.	.	23467095|23467085|22001908|18334630|16847254|11891330|11278764|10884438|10357815|10191262|9722955|9114008|8455596	ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;METAL_ION_TRANSPORT;RESPONSE_TO_STRESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;SODIUM_ION_TRANSPORT;PROTEIN_METABOLIC_PROCESS;CATION_TRANSPORT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;MONOVALENT_INORGANIC_CATION_TRANSPORT;PHOSPHORYLATION;ION_TRANSPORT	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	PID_INSULIN_PATHWAY;PID_REG_GR_PATHWAY;PID_MTOR_4PATHWAY;PID_FOXOPATHWAY;PID_PI3KCIPATHWAY	.	.	
L	6	142688811	rs116955726	C	T	222	PASS	ADGRG6	adhesion G protein-coupled receptor G6	exonic	NM_001032394,NM_001032395,NM_020455,NM_198569	.	missense SNV	ADGRG6:NM_001032394:exon3:c.C209T:p.T70M,ADGRG6:NM_001032395:exon3:c.C209T:p.T70M,ADGRG6:NM_020455:exon3:c.C209T:p.T70M,ADGRG6:NM_198569:exon3:c.C209T:p.T70M	ENST00000296932.8,ENST00000545477.1,ENST00000367608.2,ENST00000230173.6,ENST00000367609.3	.	6q24.1	.	.	.	.	.	rs116955726	.	.	0.0465116	0.0526	0.0179712	0.0062	0.0062	0.0482	0.0513016569678	0.0408653764423	0.001,D	0.981,D	1.0,D	0.957586,N	0.000060,D	1.605,L	1.46,T	10.5668	2.880	1.888	6.244921,28.9	6.06	AC=3;AN=6;BQB=0.840422;DP4=60,25,54,26;DP=206;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.437103;SF=3,20,21;SGB=-0.693079;VDB=0.545098	GT:DP:DV:PL	.	.	.	0/1:53:29:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:21:255,0,255	0/1:65:30:255,0,255	.	.	.	C	T	0	3	Lethal congenital contracture syndrome 9, 616503 (3)	.	.	.	26004201|19745155|15225624|12565841	.	.	.	.	.	.	.	
L	6	142688827	rs35699755	C	T	222	PASS	ADGRG6	adhesion G protein-coupled receptor G6	exonic	NM_001032394,NM_001032395,NM_020455,NM_198569	.	synonymous SNV	ADGRG6:NM_001032394:exon3:c.C225T:p.T75T,ADGRG6:NM_001032395:exon3:c.C225T:p.T75T,ADGRG6:NM_020455:exon3:c.C225T:p.T75T,ADGRG6:NM_198569:exon3:c.C225T:p.T75T	ENST00000296932.8,ENST00000545477.1,ENST00000367608.2,ENST00000230173.6,ENST00000367609.3	.	6q24.1	.	.	.	.	.	rs35699755	.	.	0.0465116	0.0526	0.0353435	0.0249	0.0113	0.0480	0.0505359895865	0.0408653764423	.	.	.	.	.	.	.	.	-2.363	-3.173	1.033895,10.85	.	AC=3;AN=6;BQB=0.990346;DP4=60,28,54,23;DP=217;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.48895;SF=3,20,21;SGB=-0.693054;VDB=0.621841	GT:DP:DV:PL	.	.	.	0/1:56:28:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:20:255,0,255	0/1:64:29:255,0,255	.	.	.	C	T	0	3	Lethal congenital contracture syndrome 9, 616503 (3)	.	.	.	26004201|19745155|15225624|12565841	.	.	.	.	.	.	.	
L	6	144507797	rs748054509	G	A	222	PASS	STX11	syntaxin 11	exonic	NM_003764	.	synonymous SNV	STX11:NM_003764:exon2:c.G33A:p.L11L	ENST00000367568.4	.	6q24.2	.	.	.	.	.	rs748054509	.	.	.	.	.	.	3.31e-05	0.0005	.	.	.	.	.	.	.	.	.	.	-0.175	-0.177	.	.	AC=1;AN=2;BQB=0.628302;DP4=23,9,34,9;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997579;SF=20;SGB=-0.693146;VDB=0.601769	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:43:255,0,255	.	.	.	.	G	A	0	1	Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)	.	.	.	24459464|16582076|16278825|16180048|15703195|10036234|9571206|9553086	MEMBRANE_ORGANIZATION_AND_BIOGENESIS;MEMBRANE_FUSION	.	.	KEGG_SNARE_INTERACTIONS_IN_VESICULAR_TRANSPORT	.	.	REACTOME_BOTULINUM_NEUROTOXICITY;REACTOME_PROTEOLYTIC_CLEAVAGE_OF_SNARE_COMPLEX_PROTEINS;REACTOME_NEURONAL_SYSTEM	
L	6	146264480	rs9373478	C	T	202.6	PASS	SHPRH	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	exonic	NM_001042683,NM_173082	.	synonymous SNV	SHPRH:NM_001042683:exon9:c.G2037A:p.K679K,SHPRH:NM_173082:exon9:c.G2037A:p.K679K	ENST00000367503.3,ENST00000367505.2,ENST00000438092.2,ENST00000275233.7	.	6q24.3	.	.	.	.	.	rs9373478	.	.	0.0365449	0.0367	0.00738818	.	0.0034	0.0472	0.0390505686064	0.0336538939904	.	.	.	.	.	.	.	.	-2.806	-0.989	1.467279,13.14	.	AC=5;AN=10;BQB=0.887852;DP4=70,32,52,40;DP=239;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.786155;SF=1,15,16,18,20;SGB=-0.693054;VDB=0.752033	GT:DP:DV:PL	.	0/1:47:28:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:15:255,0,255	0/1:42:23:255,0,255	.	0/1:44:19:255,0,255	.	0/1:25:7:159,0,255	.	.	.	.	C	T	0	5	.	.	.	.		.	.	.	.	.	.	.	
L	6	150238109	rs760903838	A	G	219.5	PASS	RAET1G	retinoic acid early transcript 1G	exonic	NM_001001788	.	missense SNV	RAET1G:NM_001001788:exon5:c.T944C:p.L315S	ENST00000606915.1,ENST00000367360.2,ENST00000446954.2,ENST00000605899.1	.	6q25.1	.	.	.	Score=0.905759;Name=chr6:150337462	Score=5852;Name="4140900:LTR13_(LTR)"	rs760903838	.	.	.	.	.	.	5.047e-05	0.0017	0.00710227	0.00869565	0.0,D	0.587,P	0.824,P	1,N	.	0,N	5.25,T	.	0.175	0.220	2.541226,19.73	.	AC=2;AN=4;BQB=0.615643;DP4=23,2,20,3;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.899747;SF=14,20;SGB=-0.676189;VDB=0.199623	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:250,0,228	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	A	G	0	2	.	.	.	.		.	.	.	KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	.	.	.	
L	6	151670057	rs150800093	G	A	181.67	PASS	AKAP12	A kinase (PRKA) anchor protein 12	exonic	NM_005100,NM_144497	.	synonymous SNV	AKAP12:NM_144497:exon2:c.G237A:p.K79K,AKAP12:NM_005100:exon4:c.G531A:p.K177K	ENST00000490177.1,ENST00000253332.1,ENST00000402676.2,ENST00000359755.5,ENST00000354675.6	.	6q25.1	.	.	Score=919;Name=V$FOXD3_01	.	.	rs150800093	.	.	0.0365449	0.0337	0.0071885	.	0.0032	0.0425	0.0459418445636	0.0336538939904	.	.	.	.	.	.	.	.	1.397	1.249	1.636984,14.05	3.57	AC=3;AN=6;BQB=0.668089;DP4=32,8,23,9;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.668089;SF=2,13,20;SGB=-0.662043;VDB=0.628185	GT:DP:DV:PL	.	.	0/1:19:9:232,0,255	.	.	.	.	.	.	.	.	.	.	0/1:35:17:255,0,255	.	.	.	.	.	.	0/1:18:6:158,0,227	.	.	.	.	G	A	0	3	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	CYTOPLASM	KINASE_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	.	.	.	.	
L	6	152651657	rs3734366	G	A	222	PASS	SYNE1	spectrin repeat containing, nuclear envelope 1	exonic	NM_033071,NM_182961	.	synonymous SNV	SYNE1:NM_033071:exon77:c.C13950T:p.D4650D,SYNE1:NM_182961:exon78:c.C14163T:p.D4721D	ENST00000341594.5,ENST00000367255.5,ENST00000423061.1,ENST00000265368.4,ENST00000448038.1	.	6q25.2	.	.	.	.	.	rs3734366	.	.	0.0166113	0.0129	0.00279553	0.0003	0.0018	0.0203	0.01531391317	0.0156250091346	.	.	.	.	.	.	.	.	-4.369	-2.528	.	.	AC=2;AN=4;BQB=0.695487;DP4=16,22,20,16;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.976274;SF=11,20;SGB=-0.692067;VDB=0.63917	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:43:20:255,0,255	.	.	.	.	.	.	.	.	0/1:31:16:255,0,255	.	.	.	.	G	A	0	2	Spinocerebellar ataxia, autosomal recessive 8, 610743 (3); Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)	.	.	.	24123876|23352163|23325900|19874786|19864491|19542096|19008300|17761684|17503513|17159980|15541315|12408964|11792814|10878022|9872452	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;MUSCLE_CELL_DIFFERENTIATION	SYNAPSE_PART;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;INTEGRAL_TO_MEMBRANE;SYNAPSE	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS	
M	6	154412320	rs11575856	G	A	222	PASS	OPRM1	opioid receptor, mu 1	exonic	NM_000914,NM_001008503,NM_001008504,NM_001008505,NM_001145279,NM_001145280,NM_001145281,NM_001145282,NM_001145283,NM_001145284,NM_001145285,NM_001145286,NM_001145287,NM_001285523,NM_001285524,NM_001285526,NM_001285527,NM_001285528	.	missense SNV	OPRM1:NM_001285527:exon2:c.G577A:p.V193I,OPRM1:NM_001285528:exon2:c.G577A:p.V193I,OPRM1:NM_000914:exon3:c.G877A:p.V293I,OPRM1:NM_001008503:exon3:c.G877A:p.V293I,OPRM1:NM_001008504:exon3:c.G877A:p.V293I,OPRM1:NM_001008505:exon3:c.G877A:p.V293I,OPRM1:NM_001145280:exon3:c.G577A:p.V193I,OPRM1:NM_001145281:exon3:c.G634A:p.V212I,OPRM1:NM_001145282:exon3:c.G877A:p.V293I,OPRM1:NM_001145283:exon3:c.G877A:p.V293I,OPRM1:NM_001145284:exon3:c.G877A:p.V293I,OPRM1:NM_001145285:exon3:c.G877A:p.V293I,OPRM1:NM_001145286:exon3:c.G877A:p.V293I,OPRM1:NM_001145287:exon3:c.G577A:p.V193I,OPRM1:NM_001285523:exon3:c.G877A:p.V293I,OPRM1:NM_001285526:exon3:c.G577A:p.V193I,OPRM1:NM_001285524:exon4:c.G1156A:p.V386I,OPRM1:NM_001145279:exon5:c.G1156A:p.V386I	ENST00000452687.2,ENST00000522236.1,ENST00000419506.2,ENST00000524163.1,ENST00000330432.7,ENST00000520708.1,ENST00000428397.2,ENST00000229768.5,ENST00000434900.2,ENST00000518759.1,ENST00000522555.1,ENST00000414028.2,ENST00000337049.4,ENST00000435918.2,ENST00000360422.4	.	6q25.2	.	.	.	.	.	rs11575856	.	.	0.013289	0.0109	0.00259585	7.7e-05	0.0009	0.0086	0.0084226458193	0.012019203726	0.481,T	0.114,B	0.229,B	0.897448,N	0.000106,N	0.42,N	1.24,T	13.6812	0.122	2.023	.	3.13	AC=1;AN=2;BQB=0.146304;DP4=11,8,13,16;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.755734;SF=20;SGB=-0.693079;VDB=0.51106	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:29:255,0,255	.	.	.	.	G	A	0	1	Opioid receptor, mu-1	.	.	.	26245379|24052307|22771138|22437502|19528658|19103668|17159985|16984994|16906017|16682632|16387451|16274294|16046395|15731426|15620360|15218152|15086512|15037869|14976157|12734358|12595695|12589820|11832216|11773859|11773858|11738029|11457836|11452128|11092766|11067846|10393893|10393892|9689128|9477150|9193881|8893006|8393525|7959748|7905839|7669273	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BEHAVIOR;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;CELL_PROLIFERATION_GO_0008283;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;SYSTEM_PROCESS;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PEPTIDE_BINDING;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;PEPTIDE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	PID_IL4_2PATHWAY	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_OPIOID_SIGNALLING;REACTOME_G_PROTEIN_ACTIVATION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
L	6	158454679	rs141832629	C	T	225	PASS	SYNJ2	synaptojanin 2	exonic	NM_003898	.	synonymous SNV	SYNJ2:NM_003898:exon4:c.C678T:p.D226D	ENST00000449859.2,ENST00000355585.4,ENST00000367122.2,ENST00000367121.3	.	6q25.3	.	.	.	.	.	rs141832629	.	.	0.00664452	0.0069	0.00159744	.	0.0002	0.0027	0.00664452	0.00664452	.	.	.	.	.	.	.	.	2.837	-0.643	.	.	AC=3;AN=4;BQB=1;DP4=10,9,58,56;DP=171;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.861345;SF=20,22;SGB=-0.693147;VDB=0.273935	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:98:98:255,255,0	.	0/1:35:16:255,0,255	.	.	C	T	1	1	Synaptojanin 2	.	.	.	15548694|14562116|11498538|11084340|10357812|9636665|9388224|9205841	.	.	.	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	BIOCARTA_NDKDYNAMIN_PATHWAY	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
H	6	160977091	rs190740028	G	A	228	PASS	LPA	lipoprotein, Lp(a)	exonic	NM_005577	.	missense SNV	LPA:NM_005577:exon31:c.C4939T:p.R1647W	ENST00000447678.1,ENST00000316300.5	.	6q25.3	.	.	.	.	.	rs190740028	.	.	0.0166113	0.0159	0.00339457	.	0.0009	0.0119	0.0166113	0.0132211580529	0.134,T	0.318,B	0.951,P	0.999883,N	.	1.275,L	-0.33,T	2.8298	-2.198	-0.604	1.913598,15.67	.	AC=2;AN=2;DP4=0,0,50,9;DP=86;MQ0F=0;MQ=50;MQSB=0.996451;SF=20;SGB=-0.693147;VDB=0.141471	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:59:59:255,178,0	.	.	.	.	G	A	1	0	{Coronary artery disease, susceptibility to} (1); [LPA deficiency, congenital] (3)	.	.	.	20032323|18560444|16840570|16267501|15523644|14645638|14645635|14106010|11698280|11285247|10484779|9770530|9577282|9164807|9077546|8541836|8466495|8395942|8313620|8047165|7726859|7726858|7479743|7296818|7166304|6889478|6228142|3670400|3410459|2977749|2976021|2972066|2966760|2956279|2828221|2556454|2530631|2521477|2143582|2026424|1968792|1928089|1783400|1670844|1465128|1454851|1386087|1261074|885549|230000	SYSTEM_PROCESS	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	PID_AMB2_NEUTROPHILS_PATHWAY	.	REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	
H	6	168376881	rs200170849	T	G	92.72	PASS	HGC6.3	uncharacterized LOC100128124	exonic	NM_001129895	.	missense SNV	HGC6.3:NM_001129895:exon1:c.A452C:p.Q151P	ENST00000538528.1	.	6q27	.	.	.	.	.	rs200170849	.	.	.	.	.	.	0.0003	0.0067	.	0.00869565	.	.	.	.	.	.	.	.	-1.052	-0.998	.	.	AC=9;AN=14;BQB=0.750668;DP4=14,8,12,15;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.750668;MQSB=1;RPB=0.750668;SF=2,5,11,15,19,20,22;SGB=-0.556411;VDB=0.0797974	GT:DP:DV:PL	.	.	1/1:4:4:152,12,0	.	.	0/1:8:3:96,0,153	.	.	.	.	.	0/1:10:4:115,0,185	.	.	.	0/1:10:3:98,0,223	.	.	.	0/1:7:6:162,0,25	1/1:5:5:196,15,0	.	0/1:5:2:53,0,47	.	.	T	G	2	5	.	.	.	.		.	.	.	.	.	.	.	
H	6	168376882	.	G	T	87.18	PASS	HGC6.3	uncharacterized LOC100128124	exonic	NM_001129895	.	missense SNV	HGC6.3:NM_001129895:exon1:c.C451A:p.Q151K	ENST00000538528.1	.	6q27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.677	-2.875	.	.	AC=8;AN=12;BQB=1;DP4=19,8,7,16;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.716531;MQSB=1;RPB=0.829029;SF=2,5,11,15,19,20;SGB=-0.556411;VDB=0.0751808	GT:DP:DV:PL	.	.	1/1:4:4:152,12,0	.	.	0/1:11:3:87,0,245	.	.	.	.	.	0/1:14:3:87,0,255	.	.	.	0/1:9:2:58,0,240	.	.	.	0/1:7:6:155,0,25	1/1:5:5:177,15,0	.	.	.	.	G	T	2	4	.	.	.	.		.	.	.	.	.	.	.	PM2
L	6	168376883	.	G	T	73.22	PASS	HGC6.3	uncharacterized LOC100128124	exonic	NM_001129895	.	synonymous SNV	HGC6.3:NM_001129895:exon1:c.C450A:p.P150P	ENST00000538528.1	.	6q27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	2.572	.	.	AC=8;AN=12;BQB=0.829029;DP4=20,8,7,14;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.716531;MQSB=1;RPB=0.829029;SF=2,5,11,15,19,20;SGB=-0.511536;VDB=0.137328	GT:DP:DV:PL	.	.	1/1:3:3:117,9,0	.	.	0/1:11:3:86,0,253	.	.	.	.	.	0/1:14:3:65,0,255	.	.	.	0/1:10:2:67,0,239	.	.	.	0/1:7:6:145,0,19	1/1:4:4:153,12,0	.	.	.	.	G	T	2	4	.	.	.	.		.	.	.	.	.	.	.	PM2
H	6	168377245	rs371731947	T	C	115.38	PASS	HGC6.3	uncharacterized LOC100128124	exonic	NM_001129895	.	missense SNV	HGC6.3:NM_001129895:exon1:c.A88G:p.M30V	ENST00000538528.1	.	6q27	.	.	.	.	.	rs371731947	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-1.368	-2.678	.	.	AC=10;AN=16;BQB=0.961107;DP4=40,13,53,3;DP=145;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.780412;MQSB=1;RPB=0.0154868;SF=2,5,11,15,18,19,20,22;SGB=-0.556411;VDB=0.138245	GT:DP:DV:PL	.	.	1/1:4:4:113,12,0	.	.	0/1:21:10:167,0,199	.	.	.	.	.	0/1:18:6:105,0,224	.	.	.	0/1:21:8:167,0,226	.	.	0/1:11:4:86,0,148	0/1:11:8:161,0,74	1/1:9:9:239,27,0	.	0/1:14:7:139,0,129	.	.	T	C	2	6	.	.	.	.		.	.	.	.	.	.	.	
H	6	168377248	rs375057153	C	T	106.32	PASS	HGC6.3	uncharacterized LOC100128124	exonic	NM_001129895	.	missense SNV	HGC6.3:NM_001129895:exon1:c.G85A:p.G29R	ENST00000538528.1	.	6q27	.	.	.	.	.	rs375057153	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	0.181	-0.131	.	.	AC=10;AN=16;BQB=0.979219;DP4=47,22,56,3;DP=154;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.679965;MQSB=0.201704;RPB=0.0265845;SF=2,5,11,15,18,19,20,22;SGB=-0.590765;VDB=0.150948	GT:DP:DV:PL	.	.	1/1:5:5:129,15,0	.	.	0/1:24:10:162,0,255	.	.	.	.	.	0/1:25:6:87,0,255	.	.	.	0/1:24:9:124,0,255	.	.	0/1:14:4:78,0,170	0/1:13:9:164,0,103	1/1:9:9:223,27,0	.	0/1:14:7:139,0,132	.	.	C	T	2	6	.	.	.	.		.	.	.	.	.	.	.	
L	6	168479769	rs200628563	C	T	228	PASS	FRMD1	FERM domain containing 1	exonic	NM_024919	.	synonymous SNV	FRMD1:NM_024919:exon1:c.G6A:p.A2A	ENST00000283309.6	CpG: 19	6q27	.	.	.	.	.	rs200628563	.	.	0.00166113	0.005	0.000998403	.	6.903e-05	0.0009	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.395	-0.408	1.243602,11.98	.	AC=2;AN=2;DP4=0,0,56,33;DP=133;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=1.75488e-06	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:89:89:255,255,0	.	.	.	.	C	T	1	0	.	.	.	.		.	.	.	.	.	.	.	
H	7	195601	rs200962622	C	T	228	PASS	FAM20C	family with sequence similarity 20, member C	exonic	NM_020223	.	missense SNV	FAM20C:NM_020223:exon2:c.C653T:p.A218V	ENST00000313766.5	CpG: 35	7p22.3	.	.	.	.	.	rs200962622	.	.	0	0.004	0.000798722	.	0.0003	0.0040	0.00284091	.	0.518,T	0.003,B	0.059,B	1,N	0.982339,N	0.22,N	-0.88,T	6.7385	-0.052	0.971	0.988441,10.60	.	AC=2;AN=2;DP4=0,0,69,16;DP=123;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.100635	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:85:85:255,253,0	.	.	.	.	C	T	1	0	Raine syndrome, 259775 (3)	.	.	.	22732358|22582013|20825432|19250384|17924334|17369251|15676076|14564151|12868469|2020859	.	.	.	.	.	.	.	
L	7	1517559	rs181565114	C	T	222	PASS	INTS1	integrator complex subunit 1	exonic	NM_001080453	.	synonymous SNV	INTS1:NM_001080453:exon34:c.G4644A:p.L1548L	ENST00000389470.4,ENST00000404767.3	.	7p22.3	.	.	.	.	.	rs181565114	.	.	0.0149502	0.0119	0.00239617	.	0.0014	0.0187	0.0153139513017	0.0120192563702	.	.	.	.	.	.	.	.	0.317	0.680	.	.	AC=1;AN=2;BQB=0.938955;DP4=22,13,16,11;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.971294;SF=20;SGB=-0.693021;VDB=0.131345	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:27:255,0,255	.	.	.	.	C	T	0	1	Integrator complex subunit 1	.	.	.	16239144|10718198	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;INTEGRATOR_COMPLEX;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	.	.	.	.	
H	7	1586706	rs199763226	G	A	222	PASS	TMEM184A	transmembrane protein 184A	exonic	NM_001097620	.	missense SNV	TMEM184A:NM_001097620:exon9:c.C1124T:p.T375M	ENST00000297477.5	.	7p22.3	.	.	.	.	.	rs199763226	.	.	0.00830565	0.0079	0.00199681	0.0002	0.0010	0.0114	0.0091883614242	0.00721154110577	0.003,D	0.991,D	1.0,D	1,D	0.000000,U	2.125,M	1.3,T	14.1862	1.313	6.438	4.057261,23.7	4.59	AC=1;AN=2;BQB=0.540037;DP4=20,10,16,5;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.494588;SF=20;SGB=-0.692352;VDB=0.303773	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:21:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	7	2472555	rs12536223	C	T	222	PASS	CHST12	carbohydrate (chondroitin 4) sulfotransferase 12	exonic	NM_001243794,NM_001243795,NM_018641	.	missense SNV	CHST12:NM_001243794:exon2:c.C281T:p.P94L,CHST12:NM_001243795:exon2:c.C281T:p.P94L,CHST12:NM_018641:exon2:c.C281T:p.P94L	ENST00000258711.6	CpG: 130	7p22.3	.	.	.	.	.	rs12536223	.	.	0.0647841	0.0615	0.019369	0.0008	0.0132	0.0448	0.0589586886677	0.0685096576923	0.195,T	0.0,B	0.0,B	0.999996,N	0.000542,N	-0.145,N	0.13,T	3.0213	-0.438	-0.246	.	.	AC=3;AN=6;BQB=0.184272;DP4=111,62,115,48;DP=418;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0513123;SF=9,12,20;SGB=-0.693147;VDB=0.379961	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:94:45:255,0,255	.	.	0/1:113:51:255,0,255	.	.	.	.	.	.	.	0/1:129:67:255,0,255	.	.	.	.	C	T	0	3	Carbohydrate sulfotransferase 12	.	.	.	10781601	SULFUR_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;PROTEOGLYCAN_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	.	SULFOTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE;KEGG_SULFUR_METABOLISM	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	
L	7	2578843	rs200084998	G	A	157	PASS	BRAT1	BRCA1-associated ATM activator 1	exonic	NM_152743	.	synonymous SNV	BRAT1:NM_152743:exon13:c.C1740T:p.P580P	ENST00000340611.4,ENST00000473879.1	.	7p22.3	.	.	.	.	.	rs200084998	.	.	0.00498339	0.004	0.000798722	.	0.0002	0.0030	0.00498339	0.00498339	.	.	.	.	.	.	.	.	-0.185	-0.455	.	.	AC=1;AN=2;BQB=1;DP4=10,0,9,1;DP=22;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.813484;SF=20;SGB=-0.670168;VDB=0.034237	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:10:190,0,145	.	.	.	.	G	A	0	1	Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)	.	.	.	25500575|25319849|23035047|22279524|16452482	.	.	.	.	.	.	.	
L	7	2748758	rs59438885	G	A	223.45	PASS	AMZ1	archaelysin family metallopeptidase 1	exonic	NM_133463	.	synonymous SNV	AMZ1:NM_133463:exon5:c.G651A:p.S217S	ENST00000407112.1,ENST00000312371.4,ENST00000489665.1	.	7p22.3	.	.	.	.	.	rs59438885	.	.	0.0116279	0.0149	0.00299521	.	0.0008	0.0094	0.00918835672282	0.0120192317308	.	.	.	.	.	.	.	.	-0.481	-1.073	.	.	AC=32,1;AN=44;BQB=0.952557;DP4=212,128,686,371;DP=1957;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977824;SF=0,1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,22,23,24;SGB=-0.693054;VDB=0.377106	GT:DP:DV:PL	0/1:71:28:255,0,255,.,.,.	0/1:51:27:255,0,255,.,.,.	0/1:76:34:255,0,255,.,.,.	1/1:57:57:255,172,0,.,.,.	.	1/1:108:108:255,255,0,.,.,.	1/1:65:65:255,196,0,.,.,.	1/1:85:85:255,255,0,.,.,.	1/1:44:44:255,132,0,.,.,.	0/1:41:16:255,0,255,.,.,.	1/1:72:72:255,217,0,.,.,.	1/1:54:54:255,163,0,.,.,.	1/1:46:46:255,138,0,.,.,.	.	0/1:69:33:255,0,255,.,.,.	0/1:56:26:255,0,255,.,.,.	0/1:64:44:255,0,255,.,.,.	2/1:47:46:255,255,255,255,0,255	0/1:62:33:255,0,255,.,.,.	0/1:73:32:255,0,255,.,.,.	1/1:58:58:255,175,0,.,.,.	.	0/1:16:11:255,0,168,.,.,.	1/1:94:94:255,255,0,.,.,.	0/1:88:44:255,0,255,.,.,.	G	C,A	10	12	Archaelysin family metallopeptidase 1	.	.	.	15972818|11853319	.	.	.	.	.	.	.	
L	7	4008956	rs147945522	A	G	222	PASS	SDK1	sidekick cell adhesion molecule 1	exonic	NM_152744	.	synonymous SNV	SDK1:NM_152744:exon11:c.A1614G:p.L538L	ENST00000404826.2,ENST00000389531.3	.	7p22.2	.	.	Score=763;Name=V$MEF2_01	.	.	rs147945522	.	.	0.0116279	0.0139	0.00279553	7.7e-05	0.0013	0.0172	0.0122511502297	0.0120192317308	.	.	.	.	.	.	.	.	-0.323	0.084	.	.	AC=1;AN=2;BQB=0.872502;DP4=33,7,17,5;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.818642;SF=20;SGB=-0.692562;VDB=0.025903	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:22:255,0,255	.	.	.	.	A	G	0	1	Sidekick, Drosophila, homolog of, 1	.	.	.	18216854|12230981	.	.	.	.	.	.	.	
L	7	5427950	rs112785272	G	A	222	PASS	TNRC18	trinucleotide repeat containing 18	exonic	NM_001080495	.	missense SNV	TNRC18:NM_001080495:exon5:c.C1505T:p.P502L	ENST00000399537.4,ENST00000430969.1	CpG: 185	7p22.1	.	.	.	.	.	rs112785272	.	.	0.0249169	0.0308	0.023762	0.0077	0.0297	0.0375	0.02297087366	0.0288461127404	0.254,T	0.003,B	0.002,B	0.755564,N	.	1.5,L	2.76,T	6.719	0.677	2.305	2.457962,19.20	3.24	AC=1;AN=2;BQB=0.956179;DP4=40,20,27,17;DP=138;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.126604;SF=20;SGB=-0.693146;VDB=0.0359524	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:104:44:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	7	5567677	rs11546939	C	T	222	PASS	ACTB	actin, beta	exonic	NM_001101	.	synonymous SNV	ACTB:NM_001101:exon5:c.G942A:p.Q314Q	ENST00000331789.5,ENST00000464611.1	.	7p22.1	.	.	.	Score=0.935185;Name=chr5:77080701	.	rs11546939	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000116225.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0149502	0.0149	0.0271565	0.0351	0.0286	0.0142	0.0149502	0.0144231074519	.	.	.	.	.	.	.	.	2.617	3.796	.	5.55	AC=1;AN=2;BQB=0.989667;DP4=29,15,20,18;DP=110;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999989;SF=20;SGB=-0.693143;VDB=0.726144	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:82:38:255,0,255	.	.	.	.	C	T	0	1	?Dystonia, juvenile-onset, 607371 (3); Baraitser-Winter syndrome 1, 243310 (3)	.	.	.	25052316|24458642|23756437|23649928|22366783|20847274|20167579|17502619|16794040|16685646|16306994|12388543|12325076|11311002|10928857|10327243|8941379|7199389|6865942|6202424|3842206|3837182|2994062|2837653|1505215|1415343|274701	.	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;CYTOSKELETON;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY;KEGG_VIRAL_MYOCARDITIS	.	.	REACTOME_PREFOLDIN_MEDIATED_TRANSFER_OF_SUBSTRATE_TO_CCT_TRIC;REACTOME_PROTEIN_FOLDING;REACTOME_METABOLISM_OF_PROTEINS	
L	7	7612457	rs192552962	T	C	222	PASS	MIOS	missing oocyte, meiosis regulator, homolog (Drosophila)	exonic	NM_019005	.	synonymous SNV	MIOS:NM_019005:exon4:c.T351C:p.N117N	ENST00000340080.4,ENST00000405785.1	.	7p21.3	.	.	Score=913;Name=V$CHOP_01	.	.	rs192552962	.	.	0.00996678	0.0079	0.00159744	.	0.0005	0.0071	0.00842266434916	0.00841346449519	.	.	.	.	.	.	.	.	0.549	0.921	.	.	AC=2;AN=4;BQB=0.985765;DP4=19,10,26,10;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.205842;SF=13,20;SGB=-0.691153;VDB=0.972699	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:18:255,0,255	.	.	.	.	.	.	0/1:35:18:255,0,255	.	.	.	.	T	C	0	2	Missing oocyte/meiosis regulator, Drosophila, homolog of	.	.	.	23723238|14973288	.	.	.	.	.	.	.	
H	7	20762786	rs80123476	G	A	222	PASS	ABCB5	ATP-binding cassette, sub-family B (MDR/TAP), member 5	exonic	NM_001163941,NM_178559	.	missense SNV	ABCB5:NM_178559:exon12:c.G1234A:p.A412T,ABCB5:NM_001163941:exon21:c.G2569A:p.A857T	ENST00000258738.6,ENST00000404938.2	.	7p21.1	.	.	.	.	.	rs80123476	.	.	.	.	.	0.0002	0.0003	0.0038	0.00284091	.	0.049,D	0.002,B	0.001,B	0.999876,N	0.233018,N	0.525,N	-2.56,D	3.1725	0.307	1.464	2.480131,19.34	.	AC=1;AN=2;BQB=0.937241;DP4=8,1,11,7;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.511891;SF=20;SGB=-0.691153;VDB=0.126406	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:18:255,0,215	.	.	.	.	G	A	0	1	ATP-binding cassette, subfamily B, member 5	.	.	.	18202660|15899824|15760339|12960149	.	.	.	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
L	7	26678881	rs78525926	G	A	222	PASS	C7orf71	chromosome 7 open reading frame 71	exonic	NM_001145531,NM_001302625	.	missense SNV	C7orf71:NM_001302625:exon1:c.G47A:p.R16Q,C7orf71:NM_001145531:exon2:c.G118A:p.G40S	ENST00000409974.3	.	7p15.2	.	.	.	.	Score=1867;Name="4272166:MLT1B(LTR)"	rs78525926	.	.	0.00332226	0.004	0.0393371	0.0346	0.0149	0.0039	.	0.00332226	0.197,T	0.023,B	0.672,P	1,N	.	.	.	.	-0.482	-0.172	1.430486,12.95	.	AC=1;AN=2;BQB=0.980583;DP4=22,8,12,8;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.648471;SF=20;SGB=-0.692067;VDB=0.851718	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:20:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	7	27168878	.	G	T	189	PASS	HOXA4	homeobox A4	exonic	NM_002141	.	missense SNV	HOXA4:NM_002141:exon2:c.C929A:p.P310Q	ENST00000428284.2,ENST00000360046.5,ENST00000521159.1,ENST00000521401.1,ENST00000467897.2	.	7p15.2	.	.	.	.	Score=241;Name="4272931:G-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	0.186,T	0.004,B	0.008,B	1,D	0.144157,N	1.555,L	-2.35,D	9.9998	1.368	2.320	2.498614,19.46	4.87	AC=1;AN=2;BQB=0.965264;DP4=11,3,17,1;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.985496;SF=20;SGB=-0.691153;VDB=0.77062	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:18:222,0,217	.	.	.	.	G	T	0	1	Homeo box-A4	.	.	.	2574852	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	.	.	.	.	.	PM2
H	7	31862737	rs148019533	G	A	222	PASS	PDE1C	phosphodiesterase 1C, calmodulin-dependent 70kDa	exonic	NM_001191056,NM_001191057,NM_001191058,NM_001191059,NM_005020	.	missense SNV	PDE1C:NM_001191056:exon14:c.C1532T:p.T511M,PDE1C:NM_001191057:exon14:c.C1532T:p.T511M,PDE1C:NM_001191058:exon15:c.C1712T:p.T571M,PDE1C:NM_001191059:exon15:c.C1532T:p.T511M,PDE1C:NM_005020:exon15:c.C1532T:p.T511M	ENST00000396184.3,ENST00000396191.1,ENST00000396182.2,ENST00000321453.7,ENST00000396193.1	.	7p14.3	.	.	.	.	.	rs148019533	.	.	0	.	0.000199681	0.0002	8.264e-05	0.0002	.	.	0.153,T	0.732,P	0.992,D	0.996928,D	0.274059,N	0.975,L	-0.64,T	14.4606	2.739	6.503	4.804823,24.8	5.79	AC=1;AN=2;BQB=0.944743;DP4=18,2,15,4;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.219288;SF=20;SGB=-0.69168;VDB=0.356207	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	G	A	0	1	Phosphodiesterase 1C	.	.	.	17726023|14586460|8557689|1326532	.	.	HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;3_5_CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY;CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION	.	.	.	
H	7	32919039	rs573729339	G	A	59	PASS	KBTBD2	kelch repeat and BTB (POZ) domain containing 2	splicing	NM_015483	NM_015483:exon2:c.170+8C>T	.	.	ENST00000404479.1,ENST00000304056.4,ENST00000485611.1	.	7p14.3	.	.	.	.	.	rs573729339	.	.	0.00166113	0.001	0.000199681	.	.	.	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.818	0.709	1.281153,12.17	2.76	AC=1;AN=2;BQB=0.809011;DP4=6,0,3,0;DP=11;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.924584;RPB=0.115573;SF=20;SGB=-0.511536;VDB=0.0785113	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:3:92,0,146	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	7	33573737	rs146752751	C	T	222	PASS	BBS9	Bardet-Biedl syndrome 9	exonic	NM_001033604,NM_001033605,NM_014451,NM_198428	.	missense SNV	BBS9:NM_014451:exon19:c.C2350T:p.R784C,BBS9:NM_001033604:exon20:c.C2365T:p.R789C,BBS9:NM_001033605:exon20:c.C2455T:p.R819C,BBS9:NM_198428:exon21:c.C2470T:p.R824C	ENST00000396127.2,ENST00000242067.6,ENST00000355070.2,ENST00000354265.4,ENST00000350941.3	.	7p14.3	.	.	.	.	.	rs146752751	.	.	0.0365449	0.0367	0.00738818	0.0003	0.0026	0.0343	0.0344564026034	0.0348558098558	0.001,D	0.949,D	1.0,D	0.999999,D	0.000001,D	0.695,N	0.05,T	15.1109	2.826	4.253	7.732374,35	5.93	AC=2;AN=4;BQB=0.618039;DP4=24,20,22,14;DP=112;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997067;SF=16,20;SGB=-0.689466;VDB=0.591352	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:16:255,0,255	.	.	.	0/1:43:20:255,0,255	.	.	.	.	C	T	0	2	Bardet-Biedl syndrome 9, 615986 (3)	.	.	.	22353939|22072986|20603001|19081074|17574030|16380913|12618763|10221542	.	.	.	.	.	.	.	
L	7	36763748	rs149026099	C	T	217.5	PASS	AOAH	acyloxyacyl hydrolase (neutrophil)	exonic	NM_001177506,NM_001177507,NM_001637	.	synonymous SNV	AOAH:NM_001177507:exon1:c.G6A:p.Q2Q,AOAH:NM_001637:exon1:c.G6A:p.Q2Q	ENST00000431169.1,ENST00000535891.1,ENST00000258749.5	.	7p14.2	.	.	.	.	.	rs149026099	.	.	0.0166113	0.0159	0.00359425	.	0.0012	0.0161	0.0166113	0.0144230794471	.	.	.	.	.	.	.	.	0.540	0.561	.	2.43	AC=2;AN=4;BQB=0.639741;DP4=8,9,11,12;DP=54;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.45198;SF=12,20;SGB=-0.651104;VDB=0.0439727	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:8:246,0,226	.	.	.	.	.	.	.	0/1:24:15:255,0,222	.	.	.	.	C	T	0	2	Acyloxyacyl hydrolase (neutrophil)	.	.	.	8088847|1883828	DEFENSE_RESPONSE;LIPID_METABOLIC_PROCESS;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;CARBOXYLESTERASE_ACTIVITY	.	.	.	.	
L	7	43496014	rs538912476	G	A	222	PASS	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	exonic	NM_001287059,NM_015052	.	synonymous SNV	HECW1:NM_001287059:exon11:c.G2517A:p.G839G,HECW1:NM_015052:exon13:c.G2619A:p.G873G	ENST00000453890.1,ENST00000395891.2	.	7p13	.	.	.	.	.	rs538912476	.	.	0.00332226	0.002	0.000399361	.	0.0001	0.0017	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	0.133	-0.195	1.312963,12.34	.	AC=1;AN=2;BQB=0.887668;DP4=14,9,16,6;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998969;SF=20;SGB=-0.692562;VDB=0.0255672	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:22:255,0,255	.	.	.	.	G	A	0	1	HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1	.	.	.	14684739|9205841	.	.	.	.	.	.	.	
M	7	45123906	rs61740887	T	G	57.54	PASS	NACAD	NAC alpha domain containing	exonic	NM_001146334	.	missense SNV	NACAD:NM_001146334:exon2:c.A1873C:p.I625L	ENST00000490531.2	.	7p13	.	.	.	.	.	rs61740887	.	.	.	.	.	.	0.0003	0.0046	.	0.0217391	1.0,T	0.0,B	0.0,B	1,P	0.719328,N	-1.32,N	2.9,T	4.7983	-3.309	-1.111	.	.	AC=7;AN=14;BQB=0.19345;DP4=174,55,55,10;DP=431;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.999369;MQSB=0.10274;RPB=0.0286491;SF=3,6,7,13,18,20,24;SGB=-0.590765;VDB=0.0868401	GT:DP:DV:PL	.	.	.	0/1:24:5:59,0,255	.	.	0/1:45:10:117,0,255	0/1:59:14:112,0,255	.	.	.	.	.	0/1:46:15:149,0,239	.	.	.	.	0/1:34:5:71,0,236	.	0/1:37:6:73,0,252	.	.	.	0/1:49:10:65,0,255	T	G	0	7	.	.	.	.		.	.	.	.	.	.	.	
L	7	45123925	rs377425677	C	T	81.39	PASS	NACAD	NAC alpha domain containing	exonic	NM_001146334	.	synonymous SNV	NACAD:NM_001146334:exon2:c.G1854A:p.K618K	ENST00000490531.2	.	7p13	.	.	.	.	.	rs377425677	.	.	.	.	.	.	0.0003	0.0052	.	0.0217391	.	.	.	.	.	.	.	.	-0.449	-0.042	.	.	AC=8;AN=16;BQB=0.708868;DP4=191,105,69,19;DP=548;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.991635;MQSB=0.952765;RPB=0.322912;SF=3,6,7,11,13,18,20,24;SGB=-0.616816;VDB=0.0328229	GT:DP:DV:PL	.	.	.	0/1:30:6:69,0,255	.	.	0/1:43:11:138,0,255	0/1:66:14:134,0,255	.	.	.	0/1:50:7:65,0,255	.	0/1:56:25:236,0,255	.	.	.	.	0/1:38:5:75,0,255	.	0/1:45:8:94,0,255	.	.	.	0/1:56:12:119,0,255	C	T	0	8	.	.	.	.		.	.	.	.	.	.	.	
L	7	45123937	rs112035890	T	C	145.69	PASS	NACAD	NAC alpha domain containing	exonic	NM_001146334	.	synonymous SNV	NACAD:NM_001146334:exon2:c.A1842G:p.S614S	ENST00000490531.2	.	7p13	.	.	.	.	.	rs112035890	.	.	.	.	.	.	0.0025	0.0062	.	0.0217391	.	.	.	.	.	.	.	.	-2.419	-0.474	.	.	AC=13;AN=26;BQB=0.679275;DP4=257,116,140,65;DP=890;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.766223;MQSB=0.479364;RPB=0.083813;SF=3,4,6,7,11,13,14,15,18,20,21,22,24;SGB=-0.680642;VDB=0.00556548	GT:DP:DV:PL	.	.	.	0/1:33:12:187,0,255	0/1:38:11:144,0,255	.	0/1:40:14:183,0,255	0/1:60:23:255,0,255	.	.	.	0/1:44:9:146,0,255	.	0/1:63:41:255,0,230	0/1:55:14:154,0,255	0/1:34:12:135,0,251	.	.	0/1:30:8:149,0,255	.	0/1:48:18:250,0,255	0/1:55:15:154,0,255	0/1:27:12:171,0,255	.	0/1:51:16:152,0,255	T	C	0	13	.	.	.	.		.	.	.	.	.	.	.	
M	7	48318613	rs186526946	A	G	222	PASS	ABCA13	ATP-binding cassette, sub-family A (ABC1), member 13	exonic	NM_152701	.	missense SNV	ABCA13:NM_152701:exon18:c.A7822G:p.I2608V	ENST00000435803.1	.	7p12.3	.	.	.	.	.	rs186526946	.	.	0.0182724	0.0139	0.00958466	0.0003	0.0065	0.0168	0.016845317611	0.0180288266827	0.549,T	0.001,B	0.0,B	1,N	0.262741,N	0.09,N	0.77,T	10.4999	-0.904	-0.036	.	.	AC=3;AN=6;BQB=0.636453;DP4=32,13,26,18;DP=110;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.174185;SF=4,11,20;SGB=-0.690438;VDB=0.0430435	GT:DP:DV:PL	.	.	.	.	0/1:36:17:255,0,255	.	.	.	.	.	.	0/1:25:13:255,0,255	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	.	.	A	G	0	3	ATP-binding cassette, subfamily A, member 13	.	.	.	19944402|12697998	.	.	.	KEGG_ABC_TRANSPORTERS	.	.	.	
L	7	66459316	rs113993989	G	A	222	PASS	SBDS	Shwachman-Bodian-Diamond syndrome	exonic	NM_016038	.	synonymous SNV	SBDS:NM_016038:exon2:c.C141T:p.L47L	ENST00000246868.2	.	7q11.21	.	.	.	Score=0.964346;Name=chr7:72276831	.	rs113993989	CLINSIG=Benign;CLNDBN=Shwachman_syndrome;CLNACC=RCV000020726.1;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C0272170:260400:811:89454001	.	0.0365449	0.0337	0.013778	0.0060	0.0068	0.0347	0.0306279039816	0.0348558098558	.	.	.	.	.	.	.	.	-1.431	-0.683	1.375941,12.66	.	AC=2;AN=4;BQB=0.876786;DP4=19,17,18,17;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.411112;MQSB=0.999582;RPB=0.814275;SF=1,20;SGB=-0.683931;VDB=0.015844	GT:DP:DV:PL	.	0/1:26:13:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:22:255,0,255	.	.	.	.	G	A	0	2	Shwachman-Diamond syndrome, 260400 (3); {Aplastic anemia, susceptibility to}, 609135 (3)	.	.	.	21536732|20305640|20015955|19602484|18324336|17478638|17475909|17353896|16914746|15860664|15769891|15701634|15701631|15474150|14749921|12496757	.	.	.	.	.	.	.	BP6
H	7	72754792	rs782064333	C	G	222	PASS	FKBP6	FK506 binding protein 6, 36kDa	exonic	NM_001135211,NM_001281304,NM_003602	.	missense SNV	FKBP6:NM_001281304:exon5:c.C651G:p.I217M,FKBP6:NM_001135211:exon6:c.C726G:p.I242M,FKBP6:NM_003602:exon6:c.C741G:p.I247M	ENST00000413573.2,ENST00000431982.2,ENST00000252037.4	.	7q11.23	.	.	Score=811;Name=V$COMP1_01	.	.	rs782064333	.	.	.	.	.	.	3.315e-05	0.0005	.	.	0.212,T	0.149,B	0.712,P	0.999852,N	0.535641,N	0,N	-0.78,T	5.1655	0.501	0.384	1.294117,12.24	2.08	AC=1;AN=2;BQB=0.555111;DP4=17,8,9,11;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.397109;SF=20;SGB=-0.692067;VDB=0.0956516	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:20:255,0,255	.	.	.	.	C	G	0	1	FK506-binding protein 6	.	.	.	15770126|12764197|9782077	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	DRUG_BINDING	.	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS	
L	7	74563753	rs202156190	G	A	71	PASS	GTF2IRD2,GTF2IRD2B	GTF2I repeat domain containing 2	exonic	NM_001003795,NM_173537	.	synonymous SNV	GTF2IRD2B:NM_001003795:exon16:c.G1500A:p.S500S,GTF2IRD2:NM_173537:exon16:c.G1500A:p.S500S	ENST00000312575.7,ENST00000418185.2	.	7q11.23	.	.	.	Score=0.996968;Name=chr7:72506861	Score=10532;Name="4356934:Charlie8(DNA)"	rs202156190	.	.	.	.	.	.	0.0005	0	.	.	.	.	.	.	.	.	.	.	-1.806	-3.551	.	.	AC=1;AN=2;BQB=0.944006;DP4=22,27,14,4;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=0.00706497;MQSB=0.160945;RPB=0.14273;SF=20;SGB=-0.691153;VDB=0.176961	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:18:106,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	7	76058916	rs149364780	C	T	222	PASS	ZP3	zona pellucida glycoprotein 3 (sperm receptor)	exonic	NM_001110354,NM_007155	.	missense SNV	ZP3:NM_001110354:exon2:c.C397T:p.R133C,ZP3:NM_007155:exon3:c.C244T:p.R82C	ENST00000416245.1,ENST00000394857.3,ENST00000336517.4	.	7q11.23	.	.	.	.	.	rs149364780	.	.	0	.	0.000199681	7.7e-05	1.648e-05	0	.	.	0.067,T	0.897,P	0.999,D	0.999997,N	0.502659,N	2.74,M	-1.61,D	8.4169	1.288	1.141	5.944968,27.6	4.52	AC=1;AN=2;BQB=0.996695;DP4=17,12,9,11;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.645459;SF=20;SGB=-0.692067;VDB=0.00210244	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:20:255,0,255	.	.	.	.	C	T	0	1	Zona pellucida glycoprotein-3 (sperm receptor)	.	.	.	19052627|11940668|8467708|7789967|1968044|1556174|1478648	.	.	ENZYME_BINDING	.	.	.	.	PM2
H	7	77807397	.	A	T	222	PASS	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	exonic	NM_001301128,NM_012301	.	missense SNV	MAGI2:NM_001301128:exon13:c.T2292A:p.D764E,MAGI2:NM_012301:exon14:c.T2334A:p.D778E	ENST00000354212.4,ENST00000522391.1,ENST00000419488.1	.	7q21.11	.	.	Score=820;Name=V$FREAC2_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148,T	0.175,B	0.24,B	0.956495,D	0.002025,U	-0.195,N	1.08,T	9.6401	1.021	1.407	1.808134,15.03	3.45	AC=1;AN=2;BQB=0.619858;DP4=7,12,13,6;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.63754;SF=20;SGB=-0.69168;VDB=0.226361	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:19:255,0,255	.	.	.	.	A	T	0	1	Atrophin 1-interacting protein 1	.	.	.	24608321|18565486|16870733|15951562|10681527|9734811|9647693	.	.	ENZYME_BINDING;PHOSPHATASE_BINDING	KEGG_TIGHT_JUNCTION	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_NEPHRIN_INTERACTIONS	PM2
H	7	92028222	rs142323633	C	G	136	PASS	ANKIB1	ankyrin repeat and IBR domain containing 1	exonic	NM_019004	.	missense SNV	ANKIB1:NM_019004:exon20:c.C3229G:p.Q1077E	ENST00000265742.3	.	7q21.2	.	.	.	.	.	rs142323633	.	.	0.013289	0.0099	0.00199681	8.2e-05	0.0013	0.0154	0.00918834554364	0.013289	0.314,T	0.006,B	0.002,B	0.923707,D	0.161306,N	0,N	2.98,T	14.559	1.535	1.951	1.197564,11.73	4.34	AC=1;AN=2;BQB=0.941512;DP4=3,5,1,6;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.87319;SF=20;SGB=-0.636426;VDB=0.551097	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:7:169,0,229	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	7	92244518	.	C	T	216	PASS	CDK6	cyclin-dependent kinase 6	exonic	NM_001145306,NM_001259	.	missense SNV	CDK6:NM_001145306:exon8:c.G917A:p.C306Y,CDK6:NM_001259:exon8:c.G917A:p.C306Y	ENST00000265734.4,ENST00000424848.2	.	7q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.0,B	0.001,B	0.999963,N	0.835080,N	0.695,N	-0.6,T	7.0219	0.729	0.604	.	2.86	AC=1;AN=2;BQB=0.857404;DP4=9,6,5,5;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.573852;SF=20;SGB=-0.670168;VDB=0.646725	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:10:249,0,255	.	.	.	.	C	T	0	1	?Microcephaly 12, primary, autosomal recessive, 616080 (3)	.	.	.	23918663|22683624|15315761|14647273|11930009|10879740|10777219|10499802|9422538|9102208|8114739|8001816|7882308|1639063	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;HEMOPOIESIS;IMMUNE_SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;INTERPHASE;TISSUE_DEVELOPMENT;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;REGULATION_OF_DEVELOPMENTAL_PROCESS;MITOTIC_CELL_CYCLE;MYELOID_CELL_DIFFERENTIATION;CELL_CYCLE_PHASE;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;CELL_SUBSTRATE_ADHESION;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_CELL_DIFFERENTIATION;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;HOMEOSTASIS_OF_NUMBER_OF_CELLS;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;G1_PHASE_OF_MITOTIC_CELL_CYCLE;HOMEOSTATIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;GLIOGENESIS;BONE_REMODELING;CELL_PROLIFERATION_GO_0008283;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;G1_PHASE;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEUROGENESIS;POSITIVE_REGULATION_OF_CELL_ADHESION;CELL_CYCLE_GO_0007049;TISSUE_REMODELING;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_CELL_PROLIFERATION	CYTOPLASM;NUCLEUS;CELL_PROJECTION;RUFFLE;MACROMOLECULAR_COMPLEX;LEADING_EDGE;PROTEIN_COMPLEX	.	KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_GLIOMA;KEGG_MELANOMA;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER;KEGG_NON_SMALL_CELL_LUNG_CANCER	PID_P73PATHWAY;PID_AR_PATHWAY;PID_CMYB_PATHWAY;PID_IL2_STAT5PATHWAY;PID_RB_1PATHWAY	BIOCARTA_G1_PATHWAY;BIOCARTA_CELLCYCLE_PATHWAY;BIOCARTA_RACCYCD_PATHWAY	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES	PM2
H	7	98574585	rs55755466	G	C	222	PASS	TRRAP	transformation/transcription domain-associated protein	exonic	NM_001244580,NM_003496	.	missense SNV	TRRAP:NM_003496:exon54:c.G8196C:p.E2732D,TRRAP:NM_001244580:exon55:c.G8250C:p.E2750D	ENST00000446306.3,ENST00000355540.3,ENST00000359863.4	.	7q22.1	.	.	.	.	.	rs55755466	.	.	0.00498339	0.003	0.000599042	.	0.0006	0.0078	0.0045941793415	0.00600961572115	0.31,T	0.009,B	0.016,B	0.999876,D	0.000000,D	1.035,L	0.94,T	19.0336	-2.063	0.639	.	.	AC=3;AN=6;BQB=0.863653;DP4=62,20,60,11;DP=212;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.87113;SF=0,13,20;SGB=-0.692831;VDB=0.93362	GT:DP:DV:PL	0/1:57:24:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:22:255,0,255	.	.	.	.	.	.	0/1:46:25:255,0,255	.	.	.	.	G	C	0	3	Transformation/transcription domain-associated protein	.	.	.	21499247|18614019|14966270|11544477|9885574|9708738	SIGNAL_TRANSDUCTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_E2F_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_MYC_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_BETACATENIN_NUC_PATHWAY	BIOCARTA_PITX2_PATHWAY	.	
H	7	98800721	rs181157278	A	G	205	PASS	KPNA7	karyopherin alpha 7 (importin alpha 8)	splicing	NM_001145715	NM_001145715:exon2:c.201+8T>C	.	.	ENST00000327442.6	.	7q22.1	.	.	.	.	.	rs181157278	.	.	0.0215947	0.0218	0.00479233	0.0007	0.0011	0.0322	0.00994318	0.0216346182692	.	.	.	.	.	.	.	.	-2.013	-2.153	.	.	AC=5;AN=10;BQB=0.574735;DP4=64,18,69,13;DP=209;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993186;SF=0,2,13,20,21;SGB=-0.691153;VDB=0.745488	GT:DP:DV:PL	0/1:38:18:255,0,255	.	0/1:22:11:205,0,240	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	.	.	0/1:25:10:220,0,255	0/1:52:29:255,0,255	.	.	.	A	G	0	5	Karyopherin alpha 7	.	.	.	24045845|20701745|20699224	.	.	.	.	.	.	.	
H	7	100072044	rs117565935	C	T	222	PASS	TSC22D4	TSC22 domain family, member 4	exonic	NM_001303043,NM_030935	.	missense SNV	TSC22D4:NM_001303043:exon3:c.G782A:p.R261H,TSC22D4:NM_030935:exon3:c.G782A:p.R261H	ENST00000300181.2,ENST00000393991.1,ENST00000496728.1	.	7q22.1	.	.	.	.	.	rs117565935	.	.	0.038206	0.0377	0.00758786	.	0.0032	0.0443	0.0398162517611	0.0336538521635	0.061,T	0.005,B	0.012,B	0.9452,N	0.000127,D	0.46,N	.	8.2767	0.498	1.620	3.301264,22.9	3.17	AC=1;AN=2;BQB=0.762255;DP4=8,13,13,17;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.852667;SF=20;SGB=-0.693097;VDB=0.365116	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:30:255,0,255	.	.	.	.	C	T	0	1	TSC22 domain family, member 4	.	.	.	11707329|10488076	.	.	.	.	.	.	.	
L	7	100401092	rs56086910	C	T	222	PASS	EPHB4	EPH receptor B4	exonic	NM_004444	.	synonymous SNV	EPHB4:NM_004444:exon17:c.G2955A:p.P985P	ENST00000360620.3,ENST00000358173.3	.	7q22.1	.	.	.	.	.	rs56086910	.	.	0.013289	0.0089	0.00199681	7.7e-05	0.0007	0.0048	0.0084226458193	0.013289	.	.	.	.	.	.	.	.	-2.363	-0.528	0.919541,10.19	.	AC=1;AN=2;BQB=0.730671;DP4=15,2,15,2;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.890241;SF=20;SGB=-0.690438;VDB=0.439008	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:17:255,0,255	.	.	.	.	C	T	0	1	Ephrin receptor EphB4 (hepatoma transmembrane kinase)	.	.	.	19815777|10518221|8831703|8188704	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_AXON_GUIDANCE	PID_EPHBFWDPATHWAY;PID_EPHRINBREVPATHWAY	.	.	
H	7	100550755	rs28606475	A	C	207.5	PASS	MUC3A	mucin 3A, cell surface associated	exonic	NM_005960	.	missense SNV	MUC3A:NM_005960:exon2:c.A1336C:p.T446P	.	.	7q22.1	.	.	.	.	.	rs28606475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.345	-2.490	.	.	AC=48;AN=48;BQB=1;DP4=19,5,499,90;DP=743;MQ0F=0;MQ=39;MQB=1;MQSB=0.375464;RPB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.692976;VDB=4.02291e-06	GT:DP:DV:PL	1/1:27:26:255,67,0	1/1:29:27:247,13,0	1/1:22:20:239,23,0	1/1:13:13:246,39,0	1/1:9:9:198,27,0	1/1:39:37:255,89,0	1/1:26:26:255,78,0	1/1:42:40:255,76,0	1/1:24:22:252,48,0	1/1:5:5:109,15,0	1/1:21:21:255,63,0	1/1:17:15:212,23,0	1/1:22:21:229,29,0	1/1:38:37:255,99,0	1/1:35:35:255,105,0	1/1:28:27:233,70,0	1/1:34:34:255,102,0	1/1:26:25:214,41,0	.	1/1:31:31:255,93,0	1/1:25:21:199,0,3	1/1:24:24:255,72,0	1/1:9:9:194,27,0	1/1:36:34:255,59,0	1/1:31:30:255,78,0	A	C	24	0	Mucin 3A, intestinal	.	.	.	23316049|11289722|10973822|10405327|7778880|2393399|1362870	.	.	.	.	.	.	.	PM2
H	7	100550800	rs28420633	G	A	199.2	PASS	MUC3A	mucin 3A, cell surface associated	exonic	NM_005960	.	missense SNV	MUC3A:NM_005960:exon2:c.G1381A:p.E461K	.	.	7q22.1	.	.	.	.	.	rs28420633	.	.	.	.	.	.	6.439e-05	0.0012	0.103693	0.00869565	.	.	.	.	.	.	.	.	-2.529	-0.025	.	.	AC=25;AN=50;BQB=0.111755;DP4=414,54,795,63;DP=2130;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.000220712;MQSB=0.40733;RPB=0.0383214;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=7.85082e-06	GT:DP:DV:PL	0/1:61:46:255,0,69	0/1:57:40:255,0,136	0/1:53:34:255,0,175	0/1:47:27:255,0,143	0/1:33:20:226,0,137	0/1:73:50:255,0,81	0/1:58:35:255,0,185	0/1:73:52:255,0,95	0/1:44:29:238,0,128	0/1:23:11:193,0,164	0/1:48:28:201,0,159	0/1:47:25:225,0,193	0/1:65:32:216,0,231	0/1:70:55:255,0,91	0/1:51:39:255,0,59	0/1:52:38:227,0,102	0/1:61:39:255,0,196	0/1:43:32:190,0,85	0/1:31:12:145,0,166	0/1:71:43:248,0,153	0/1:38:27:255,0,87	0/1:47:37:255,0,49	0/1:30:13:156,0,184	0/1:71:50:255,0,159	0/1:79:44:255,0,206	G	A	0	25	Mucin 3A, intestinal	.	.	.	23316049|11289722|10973822|10405327|7778880|2393399|1362870	.	.	.	.	.	.	.	
L	7	100635193	rs145648974	C	T	221.5	PASS	MUC12	mucin 12, cell surface associated	exonic	NM_001164462	.	missense SNV	MUC12:NM_001164462:exon2:c.C1349T:p.T450I	ENST00000536621.1,ENST00000379442.3	.	7q22.1	.	.	.	Score=0.953071;Name=chr7:100639736	.	rs145648974	.	.	0.0415282	0.0417	0.00838658	.	0.0009	0.0460	0.0426136	0.0396634307692	0.0,D	.	.	1,N	.	0.46,N	2.74,T	2.666	0.171	-0.372	.	.	AC=2;AN=4;BQB=0.999216;DP4=162,76,72,39;DP=463;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.623204;SF=1,20;SGB=-0.693139;VDB=0.981063	GT:DP:DV:PL	.	0/1:150:36:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:199:75:255,0,255	.	.	.	.	C	T	0	2	Mucin 12	.	.	.	17911254|17058067|10463611	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100635957	rs187218941	G	A	221	PASS	MUC12	mucin 12, cell surface associated	exonic	NM_001164462	.	missense SNV	MUC12:NM_001164462:exon2:c.G2113A:p.D705N	ENST00000536621.1,ENST00000379442.3	.	7q22.1	.	.	.	Score=0.953071;Name=chr7:100639736	.	rs187218941	.	.	0.0149502	0.0089	0.00199681	.	0.0009	0.0030	.	0.0149502	0.069,T	.	.	1,N	.	0,N	2.56,T	.	-3.446	-1.169	.	.	AC=1;AN=2;BQB=0.728866;DP4=45,35,11,20;DP=140;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.406991;MQSB=0.148729;RPB=0.25782;SF=20;SGB=-0.69311;VDB=0.0425216	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:111:31:255,0,255	.	.	.	.	G	A	0	1	Mucin 12	.	.	.	17911254|17058067|10463611	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100677995	rs149287079	A	G	102.16	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.A3298G:p.S1100G	ENST00000306151.4	.	7q22.1	.	.	.	Score=0.903249;Name=chr7:100678051	.	rs149287079	.	.	.	.	.	.	0.0262	0.0165	.	0.0217391	0.076,T	0.01,B	0.171,B	1,N	.	1.445,L	4.25,T	2.8064	-1.186	-1.231	.	.	AC=7;AN=14;BQB=0.185493;DP4=3501,1971,471,633;DP=9076;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=1.47216e-06;MQSB=0.949296;RPB=3.20785e-05;SF=2,11,13,16,19,20,21;SGB=-0.693147;VDB=1.10037e-08	GT:DP:DV:PL	.	.	0/1:738:114:146,0,255	.	.	.	.	.	.	.	.	0/1:738:109:74,0,255	.	0/1:892:134:136,0,255	.	.	0/1:810:124:123,0,255	.	.	0/1:1196:235:225,0,255	0/1:832:140:146,0,255	0/1:1370:248:114,0,255	.	.	.	A	G	0	7	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100679240	rs144027969	G	C	139.1	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.G4543C:p.A1515P	ENST00000306151.4	.	7q22.1	.	.	.	Score=0.903249;Name=chr7:100676635	.	rs144027969	.	.	.	.	.	.	0.0037	0.0061	0.0710227	0.0434783	1.0,T	0.0,B	0.0,B	1,N	.	-1.56,N	4.31,T	.	-2.446	-2.184	.	.	AC=10;AN=20;BQB=0.369875;DP4=1930,1022,834,348;DP=5215;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=1.14602e-27;MQSB=0.00205481;RPB=1.62693e-07;SF=2,4,11,13,15,16,19,20,21,24;SGB=-0.693147;VDB=7.93146e-07	GT:DP:DV:PL	.	.	0/1:353:84:131,0,255	.	0/1:372:88:135,0,255	.	.	.	.	.	.	0/1:417:117:207,0,255	.	0/1:462:129:207,0,255	.	0/1:370:93:167,0,255	0/1:383:95:92,0,255	.	.	0/1:474:192:255,0,255	0/1:405:102:160,0,255	0/1:503:186:255,0,255	.	.	0/1:395:96:129,0,255	G	C	0	10	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100679254	rs199808245	A	G	201.1	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.A4557G:p.I1519M	ENST00000306151.4	.	7q22.1	.	.	.	Score=0.903249;Name=chr7:100676635	.	rs199808245	.	.	.	.	.	.	0.0089	0.0137	0.0894886	0.0391304	0.297,T	0.0,B	0.0,B	1,N	.	-0.58,N	4.39,T	.	-2.226	-2.759	.	.	AC=10;AN=20;BQB=0.628622;DP4=1932,1060,1004,419;DP=5755;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=4.99312e-28;MQSB=0.0031243;RPB=0.000358299;SF=2,4,11,13,15,16,19,20,21,24;SGB=-0.693147;VDB=3.53974e-05	GT:DP:DV:PL	.	.	0/1:382:96:168,0,255	.	0/1:404:111:217,0,255	.	.	.	.	.	.	0/1:439:140:255,0,255	.	0/1:475:149:255,0,255	.	0/1:386:111:255,0,255	0/1:393:109:183,0,255	.	.	0/1:515:234:255,0,255	0/1:444:124:255,0,255	0/1:555:229:255,0,255	.	.	0/1:422:120:255,0,255	A	G	0	10	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100679289	rs77564441	T	C	72.9	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.T4592C:p.I1531T	ENST00000306151.4	.	7q22.1	.	.	.	Score=0.903249;Name=chr7:100676635	.	rs77564441	.	.	.	.	.	.	.	.	.	0.00434783	0.276,T	0.0,B	0.0,B	1,N	.	-1.1,N	4.53,T	3.7248	-2.930	-1.648	.	.	AC=3;AN=6;BQB=0.0829846;DP4=832,413,216,80;DP=2245;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=3.79894e-23;MQSB=0.998841;RPB=0.202195;SF=13,19,20;SGB=-0.693147;VDB=0.0036468	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:523:95:153,0,255	.	.	.	.	.	0/1:554:117:98,0,255	0/1:464:84:75,0,255	.	.	.	.	T	C	0	3	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100679388	rs142741280	A	C	181	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.A4691C:p.Q1564P	ENST00000306151.4	.	7q22.1	.	.	.	Score=0.903249;Name=chr7:100676635	.	rs142741280	.	.	.	.	.	.	0.0355	0.0421	.	0.104348	1.0,T	0.0,B	0.0,B	1,N	.	-2.28,N	4.52,T	.	-1.396	-0.671	.	.	AC=10;AN=20;BQB=0.243321;DP4=2280,1154,455,794;DP=6093;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=7.93972e-32;MQSB=0.152123;RPB=8.56968e-08;SF=2,4,11,13,15,16,19,20,21,24;SGB=-0.693147;VDB=1.11148e-09	GT:DP:DV:PL	.	.	0/1:440:85:221,0,255	.	0/1:433:102:203,0,255	.	.	.	.	.	.	0/1:431:118:255,0,255	.	0/1:484:128:255,0,255	.	0/1:352:81:255,0,255	0/1:440:92:132,0,255	.	.	0/1:564:221:255,0,255	0/1:477:106:130,0,255	0/1:602:216:255,0,255	.	.	0/1:460:100:198,0,255	A	C	0	10	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	7	100680295	rs201207919	C	A	119.81	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.C5598A:p.S1866R	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs201207919	.	.	0.00332226	0.002	0.00319489	.	.	.	0.00332226	0.00332226	0.007,D	0.093,B	0.797,P	1,N	.	2.295,M	4.23,T	0.2913	-4.132	-1.802	.	.	AC=5,2;AN=10;BQB=0.919032;DP4=330,142,255,161;DP=1154;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=1.9177e-29;MQSB=0.165398;RPB=1.05572e-05;SF=13,19,20,21,24;SGB=-0.693147;VDB=9.92946e-12	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:229:76:178,0,255,.,.,.	.	.	.	.	.	1/2:122:116:255,255,254,255,0,255	0/1:217:56:65,0,255,.,.,.	1/2:115:114:255,255,255,255,0,255	.	.	0/1:205:54:75,0,255,.,.,.	C	A,G	0	5	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100680295	rs201207919	C	G	119.81	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.C5598G:p.S1866R	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs201207919	.	.	0.0714286	0.0744	0.0449281	.	0.0050	0.0244	0.0714286	0.0588942634615	0.007,D	0.093,B	0.797,P	1,N	.	2.295,M	4.23,T	0.2913	-4.132	-1.802	.	.	AC=5,2;AN=10;BQB=0.919032;DP4=330,142,255,161;DP=1154;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=1.9177e-29;MQSB=0.165398;RPB=1.05572e-05;SF=13,19,20,21,24;SGB=-0.693147;VDB=9.92946e-12	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:229:76:178,0,255,.,.,.	.	.	.	.	.	1/2:122:116:255,255,254,255,0,255	0/1:217:56:65,0,255,.,.,.	1/2:115:114:255,255,255,255,0,255	.	.	0/1:205:54:75,0,255,.,.,.	C	A,G	0	5	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100680296	rs201970250	A	C	180.86	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs201970250	.	.	0.0747508	0.0764	0.048123	.	0.0050	0.0242	0.0747508	0.0588942074519	0.229,T	0.429,B	0.985,D	1,N	.	2.455,M	4.26,T	3.8578	-0.266	1.154	.	.	AC=9;AN=14;BQB=0.714386;DP4=547,237,333,191;DP=1654;HOB=0.5;ICB=1;MQ0F=0;MQ=48;MQB=1.5067e-26;MQSB=0.561302;RPB=0.00391348;SF=11,13,15,19,20,21,24;SGB=-0.693147;VDB=1.10104e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:219:60:189,0,255	.	0/1:230:76:255,0,255	.	0/1:195:48:167,0,255	.	.	.	1/1:125:118:255,121,0	0/1:218:54:189,0,255	1/1:114:113:255,255,0	.	.	0/1:207:55:184,0,255	A	C	2	5	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100680299	rs111850657	G	C	189	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.G5602C:p.A1868P	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs111850657	.	.	0.0747508	0.0764	0.048123	.	0.0015	0.0074	0.0581929464012	0.0757211401442	0.422,T	0.0,B	0.0,B	1,N	.	-2.36,N	4.15,T	0.8687	-3.231	-6.784	.	.	AC=9;AN=14;BQB=0.64909;DP4=532,237,337,198;DP=1645;HOB=0.5;ICB=1;MQ0F=0;MQ=48;MQB=1.63792e-25;MQSB=0.738978;RPB=0.000339632;SF=11,13,15,19,20,21,24;SGB=-0.693147;VDB=1.01182e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:212:63:216,0,255	.	0/1:232:77:255,0,255	.	0/1:194:48:168,0,255	.	.	.	1/1:127:121:255,149,0	0/1:217:55:218,0,255	1/1:115:115:255,255,0	.	.	0/1:207:56:184,0,255	G	C	2	5	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	7	100680313	rs201138200	A	G	118.81	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	missense SNV	MUC17:NM_001040105:exon3:c.A5616G:p.I1872M	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs201138200	.	.	0.0166113	0.0139	0.00838658	0.0005	8.389e-06	0	0.0267994090352	0.0300480824519	0.363,T	0.242,B	0.889,P	1,N	.	0.2,N	4.22,T	0.5001	-2.737	-4.309	.	.	AC=5;AN=10;BQB=0.225337;DP4=370,215,217,79;DP=1151;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=1.8156e-20;MQSB=0.24598;RPB=0.000876722;SF=13,19,20,21,24;SGB=-0.693147;VDB=1.57927e-10	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:233:54:137,0,255	.	.	.	.	.	0/1:124:86:255,0,237	0/1:220:40:57,0,255	0/1:108:78:255,0,210	.	.	0/1:196:38:65,0,255	A	G	0	5	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	7	100683520	rs75247423	C	T	222	PASS	MUC17	mucin 17, cell surface associated	exonic	NM_001040105	.	synonymous SNV	MUC17:NM_001040105:exon3:c.C8823T:p.A2941A	ENST00000306151.4	.	7q22.1	.	.	.	.	.	rs75247423	.	.	0.0299003	0.0248	0.00499201	.	0.0017	0.0230	0.0299003	0.0264422831731	.	.	.	.	.	.	.	.	0.704	0.555	1.433905,12.97	.	AC=2;AN=4;BQB=0.55314;DP4=141,103,152,83;DP=642;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691128;SF=17,20;SGB=-0.693147;VDB=0.6122	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:188:102:255,0,255	.	.	0/1:291:133:255,0,255	.	.	.	.	C	T	0	2	Mucin 17	.	.	.	17058067|11855812	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	7	102574365	.	G	C	222	PASS	LRRC17	leucine rich repeat containing 17	exonic	NM_001031692,NM_005824	.	missense SNV	LRRC17:NM_001031692:exon2:c.G5C:p.R2P,LRRC17:NM_005824:exon2:c.G5C:p.R2P	ENST00000455112.2,ENST00000313221.4,ENST00000379305.3,ENST00000456695.1,ENST00000339431.4,ENST00000436908.1,ENST00000379308.3,ENST00000249377.4,ENST00000379306.3,ENST00000393772.2	.	7q22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004,D	0.473,P	0.874,P	1,D	0.001867,N	1.87,L	-0.06,T	7.3201	0.897	1.778	5.572160,26.4	2.5	AC=1;AN=2;BQB=0.209628;DP4=20,11,14,15;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.75652;SF=20;SGB=-0.693079;VDB=0.313902	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:29:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	7	107167769	rs79413133	T	C	222	PASS	COG5	component of oligomeric golgi complex 5	exonic	NM_001161520,NM_006348,NM_181733	.	missense SNV	COG5:NM_001161520:exon6:c.A544G:p.I182V,COG5:NM_006348:exon6:c.A544G:p.I182V,COG5:NM_181733:exon6:c.A544G:p.I182V	ENST00000475638.2,ENST00000347053.3,ENST00000297135.3,ENST00000393603.2	.	7q22.3	.	.	.	.	.	rs79413133	.	.	0.0299003	0.0258	0.00519169	0.0002	0.0020	0.0238	0.0375191324655	0.0252403673077	0.14,T	0.1,B	0.476,P	0.999995,D	0.000000,D	1.1,L	2.29,T	15.837	2.199	7.654	1.944832,15.87	5.47	AC=4;AN=8;BQB=0.260035;DP4=47,18,50,19;DP=191;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.293091;SF=2,13,18,20;SGB=-0.686358;VDB=0.315657	GT:DP:DV:PL	.	.	0/1:21:14:255,0,231	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	0/1:38:19:255,0,255	.	0/1:48:22:255,0,255	.	.	.	.	T	C	0	4	Congenital disorder of glycosylation, type IIi, 613612 (3)	.	.	.	19690088|11980916|9792665	.	ORGANELLE_PART;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;GOLGI_APPARATUS_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	.	.	.	.	
L	7	120990567	.	C	T	32.82	PASS	FAM3C	family with sequence similarity 3, member C	exonic	NM_001040020,NM_014888	.	missense SNV	FAM3C:NM_001040020:exon10:c.G632A:p.G211E,FAM3C:NM_014888:exon10:c.G632A:p.G211E	ENST00000359943.3	.	7q31.31	.	.	.	Score=0.994125;Name=chrX:23094795	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.891,P	0.969,D	1,D	0.000000,D	3.295,M	0.58,T	20.6525	2.890	7.399	6.701284,32	6.07	AC=1;AN=2;BQB=0.810265;DP4=4,0,3,0;DP=8;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.810265;RPB=0.810265;SF=20;SGB=-0.511536;VDB=0.807564	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:3:66,0,96	.	.	.	.	C	T	0	1	Family with sequence similarity 3, member C	.	.	.	12160727	.	.	.	.	.	.	.	PM2,PP3
L	7	128482861	rs369234137	C	T	222	PASS	FLNC	filamin C, gamma	exonic	NM_001127487,NM_001458	.	synonymous SNV	FLNC:NM_001127487:exon16:c.C2403T:p.I801I,FLNC:NM_001458:exon16:c.C2403T:p.I801I	ENST00000325888.8,ENST00000346177.6	CpG: 48	7q32.1	.	.	Score=818;Name=V$COMP1_01	.	.	rs369234137	.	.	.	.	.	.	1.706e-05	0	.	.	.	.	.	.	.	.	.	.	-0.108	-0.611	2.102040,16.87	.	AC=1;AN=2;BQB=0.850721;DP4=38,9,33,13;DP=123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.94807;SF=20;SGB=-0.693147;VDB=0.732957	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:46:255,0,255	.	.	.	.	C	T	0	1	Myopathy, myofibrillar, 5, 609524 (3); Myopathy, distal, 4, 614065 (3)	.	.	.	21620354|21135393|20697107|19050726|17412757|15929027|15824355|15385448|11153914|10629222|9791010|8088838	.	.	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_CELL_EXTRACELLULAR_MATRIX_INTERACTIONS;REACTOME_CELL_JUNCTION_ORGANIZATION	PM2
H	7	130147641	rs189564965	C	A	222	PASS	COPG2	coatomer protein complex, subunit gamma 2	exonic	NM_012133	.	unknown	UNKNOWN	ENST00000604965.1	.	7q32.2	.	.	.	.	.	rs189564965	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0019	0.00382848235835	0.00332226	.	.	.	.	.	.	.	12.7162	2.281	1.228	2.497680,19.45	4.96	AC=1;AN=2;BQB=0.909038;DP4=8,6,8,5;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.753619;SF=20;SGB=-0.683931;VDB=0.169243	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	C	A	0	1	Coatomer protein complex, subunit gamma-2	.	.	.	17360540|11056392|10995575|10866202|10788617|10556286	ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;CELLULAR_LOCALIZATION	ORGANELLE_PART;CYTOPLASMIC_VESICLE_MEMBRANE;COATED_VESICLE;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;VESICLE_COAT;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;ORGANELLE_MEMBRANE;CYTOPLASMIC_VESICLE;CYTOPLASMIC_VESICLE_PART;ENDOMEMBRANE_SYSTEM;COATED_VESICLE_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_COAT;INTRACELLULAR_ORGANELLE_PART;GOLGI_ASSOCIATED_VESICLE;COATED_MEMBRANE;VESICLE_MEMBRANE	.	.	.	.	.	
L	7	135078926	rs531500595	A	G	228	PASS	CNOT4	CCR4-NOT transcription complex, subunit 4	exonic	NM_001008225,NM_001190847,NM_001190848,NM_001190849,NM_001190850,NM_013316	.	synonymous SNV	CNOT4:NM_001008225:exon10:c.T1362C:p.A454A,CNOT4:NM_001190847:exon10:c.T1371C:p.A457A,CNOT4:NM_001190848:exon10:c.T1371C:p.A457A,CNOT4:NM_001190849:exon10:c.T1362C:p.A454A,CNOT4:NM_001190850:exon10:c.T1371C:p.A457A,CNOT4:NM_013316:exon10:c.T1362C:p.A454A	ENST00000315544.5,ENST00000428680.2,ENST00000451834.1,ENST00000423368.2,ENST00000414802.1,ENST00000541284.1,ENST00000361528.4,ENST00000356162.4	.	7q33	.	.	.	.	.	rs531500595	.	.	0.00166113	0.001	0.000199681	.	8.281e-06	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.538	2.276	.	.	AC=2;AN=2;DP4=0,0,28,15;DP=62;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693146;VDB=0.582767	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:43:43:255,129,0	.	.	.	.	A	G	1	0	CCR4-NOT transcription complex, subunit 4	.	.	.	19346402|10637334	.	.	.	KEGG_RNA_DEGRADATION	.	.	REACTOME_DEADENYLATION_OF_MRNA;REACTOME_METABOLISM_OF_MRNA;REACTOME_DEADENYLATION_DEPENDENT_MRNA_DECAY;REACTOME_METABOLISM_OF_RNA	
H	7	139106990	rs3757435	C	A	113	PASS	LUC7L2,C7orf55-LUC7L2	LUC7-like 2 pre-mRNA splicing factor	exonic	NM_001244584,NM_001244585,NM_001270643,NM_016019	.	missense SNV	LUC7L2:NM_016019:exon10:c.C1083A:p.D361E,C7orf55-LUC7L2:NM_001244584:exon11:c.C1281A:p.D427E,LUC7L2:NM_001244585:exon11:c.C1074A:p.D358E,LUC7L2:NM_001270643:exon11:c.C1080A:p.D360E	ENST00000482860.1,ENST00000541170.3,ENST00000541515.3,ENST00000263545.6,ENST00000354926.4	.	7q34	.	.	Score=902;Name=V$USF_Q6	.	.	rs3757435	.	.	0.038206	0.0367	0.00758786	0.0002	0.0029	0.0347	0.0344563644717	0.0372596274038	0.0,D	0.007,B	0.004,B	.	0.157140,N	1.5,L	1.63,T	12.5635	1.524	4.191	3.019273,22.3	5.14	AC=2;AN=4;BQB=0.906304;DP4=20,5,11,0;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.76088;SF=1,20;SGB=-0.590765;VDB=0.489846	GT:DP:DV:PL	.	0/1:18:5:130,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:6:163,0,255	.	.	.	.	C	A	0	2	Luc7, S. cerevisiae, homolog of, 2	.	.	.	17656373	.	.	.	.	.	.	.	
H	7	139167851	rs371365178	C	A	177	PASS	KLRG2	killer cell lectin-like receptor subfamily G, member 2	exonic	NM_198508	.	missense SNV	KLRG2:NM_198508:exon1:c.G538T:p.G180C	ENST00000340940.4,ENST00000393039.2	CpG: 130	7q34	.	.	Score=713;Name=V$HOX13_01	.	.	rs371365178	.	.	0.00166113	0.002	0.000399361	.	0.0003	0	0.00166113	0.00240384754808	0.001,D	0.896,P	0.996,D	1,N	0.332878,U	0.55,N	0.8,T	3.1157	-1.561	-2.409	4.075455,23.7	.	AC=1;AN=2;BQB=0.702619;DP4=7,1,7,1;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951579;SF=20;SGB=-0.651104;VDB=0.44307	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:8:210,0,230	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	7	140373628	rs746741219	A	G	222	PASS	ADCK2	aarF domain containing kinase 2	exonic	NM_052853	.	synonymous SNV	ADCK2:NM_052853:exon1:c.A498G:p.Q166Q	ENST00000072869.4,ENST00000476491.1	.	7q34	.	.	.	.	.	rs746741219	.	.	.	.	.	.	3.314e-05	0	.	.	.	.	.	1,D	.	.	.	5.899	-0.498	0.492	.	.	AC=1;AN=2;BQB=0.392675;DP4=31,18,30,18;DP=121;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.412262;SF=20;SGB=-0.693147;VDB=0.911622	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:97:48:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	7	142573438	rs187870270	A	G	222	PASS	TRPV6	transient receptor potential cation channel, subfamily V, member 6	splicing	NM_018646	NM_018646:exon8:c.1030-5T>C	.	.	ENST00000359396.3	.	7q34	.	.	.	.	.	rs187870270	.	.	0.0199336	0.0169	0.00339457	.	0.0008	0.0109	0.0199336	0.015625033774	.	.	.	.	.	.	.	.	-1.865	0.106	.	.	AC=2;AN=4;BQB=0.980937;DP4=57,46,58,56;DP=291;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997297;SF=20,24;SGB=-0.693147;VDB=0.665294	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:52:255,0,255	.	.	.	0/1:118:62:255,0,255	A	G	0	2	Transient receptor potential cation channel, subfamily V, member 6	.	.	.	11846401|11549322|11401523|11278579|11208552|11097838	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;CALMODULIN_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	PID_TCR_PATHWAY;PID_PTP1BPATHWAY;PID_CD8TCRPATHWAY	.	.	
H	7	142983743	rs201123128	A	G	222	PASS	TMEM139	transmembrane protein 139	exonic	NM_001242773,NM_001242774,NM_001242775,NM_001282876,NM_001282877,NM_153345	.	missense SNV	TMEM139:NM_001282876:exon3:c.A472G:p.R158G,TMEM139:NM_153345:exon3:c.A472G:p.R158G,TMEM139:NM_001242773:exon4:c.A472G:p.R158G,TMEM139:NM_001242775:exon4:c.A472G:p.R158G,TMEM139:NM_001282877:exon4:c.A472G:p.R158G,TMEM139:NM_001242774:exon5:c.A472G:p.R158G	ENST00000409244.1,ENST00000446192.1,ENST00000471161.1,ENST00000409102.1,ENST00000427392.1,ENST00000359333.3,ENST00000410004.1,ENST00000409541.1	.	7q34	.	.	.	.	.	rs201123128	.	.	0.00996678	0.0089	0.00199681	.	0.0005	0.0058	0.00842266434916	0.0108173155769	0.0,D	0.032,B	0.023,B	1,N	0.013477,N	2.28,M	.	4.226	0.847	0.243	3.646655,23.2	2.19	AC=2;AN=4;BQB=0.781076;DP4=46,55,43,54;DP=235;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999512;SF=18,20;SGB=-0.693147;VDB=0.631323	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:92:45:255,0,255	.	0/1:106:52:255,0,255	.	.	.	.	A	G	0	2	Transmembrane protein 139	.	.	.	26049106	.	.	.	.	.	.	.	
L	7	142989560	rs137989079	G	A	222	PASS	CASP2	caspase 2, apoptosis-related cysteine peptidase	exonic	NM_001224,NM_032982	.	synonymous SNV	CASP2:NM_001224:exon3:c.G300A:p.P100P,CASP2:NM_032982:exon3:c.G393A:p.P131P	ENST00000392925.2,ENST00000310447.5,ENST00000493642.1	.	7q34	.	.	.	.	.	rs137989079	.	.	0.00332226	0.002	0.000399361	0.0002	0.0002	0.0013	0.00332226	0.00332226	.	.	.	.	.	.	.	.	1.310	1.322	0.969351,10.48	3.35	AC=1;AN=2;BQB=0.8473;DP4=13,8,12,11;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.713078;SF=20;SGB=-0.692717;VDB=0.18698	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:23:255,0,255	.	.	.	.	G	A	0	1	Caspase 2, apoptosis-related cysteine protease (neural precursor cell expressed, developmentally down-regulated 2)	.	.	.	23042294|21674587|15590671|15073321|12477715|12193789|9573047|8780721|8087842|7958843|7789948|1378265	CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;APOPTOTIC_PROGRAM;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;INTRACELLULAR_SIGNALING_CASCADE;APOPTOSIS_GO	.	ENZYME_BINDING	.	PID_P73PATHWAY;PID_HIVNEFPATHWAY;PID_CASPASE_PATHWAY	BIOCARTA_CASPASE_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_STRESS_PATHWAY;BIOCARTA_TNFR1_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_NOD1_2_SIGNALING_PATHWAY;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	
H	7	149430438	rs376516900	C	G	222	PASS	KRBA1	KRAB-A domain containing 1	exonic	NM_001290187,NM_032534	.	unknown	UNKNOWN	ENST00000319551.8,ENST00000255992.10,ENST00000479560.1,ENST00000485033.2	.	7q36.1	.	.	.	.	.	rs376516900	.	.	0.0282392	0.0268	0.00559105	.	0.0022	0.0301	0.023736618683	0.0216346145433	0.0,D	0.963,D	0.999,D	0.999997,N	0.006006,N	.	0.74,T	8.3118	0.133	-0.247	4.338823,24.0	.	AC=4;AN=8;BQB=0.991604;DP4=70,51,78,50;DP=297;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.97422;SF=7,15,17,20;SGB=-0.693143;VDB=0.579429	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:76:38:255,0,255	.	.	.	.	.	.	.	0/1:55:26:255,0,255	.	0/1:51:27:255,0,255	.	.	0/1:67:37:255,0,255	.	.	.	.	C	G	0	4	.	.	.	.		.	.	.	.	.	.	.	
H	7	149475053	rs118190970	C	T	222	PASS	SSPO	SCO-spondin	exonic	NM_198455	.	missense SNV	SSPO:NM_198455:exon6:c.C754T:p.P252S	ENST00000378016.2	.	7q36.1	.	.	.	.	.	rs118190970	.	.	0.0182724	0.0179	0.00399361	.	0.0010	0.0117	0.014548207657	0.0144230597356	.	.	.	.	.	.	.	.	0.140	-0.107	0.943829,10.34	2.18	AC=1;AN=2;BQB=0.995964;DP4=18,13,26,9;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.50865;SF=20;SGB=-0.693136;VDB=0.576997	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:35:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	PID_FANCONI_PATHWAY;PID_NOTCH_PATHWAY;PID_NFKAPPABATYPICALPATHWAY;PID_BETACATENIN_DEG_PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_ATR_PATHWAY;PID_PS1PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_MTOR_4PATHWAY;PID_PLK1_PATHWAY;PID_HEDGEHOG_GLIPATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_TAP63PATHWAY	.	.	
L	7	149512306	.	C	T	222	PASS	SSPO	SCO-spondin	exonic	NM_198455	.	synonymous SNV	SSPO:NM_198455:exon75:c.C10626T:p.C3542C	ENST00000378016.2	.	7q36.1	.	.	Score=680;Name=V$PPARG_02	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.996	-1.045	2.082092,16.74	.	AC=1;AN=2;BQB=0.504753;DP4=15,7,14,9;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99942;SF=20;SGB=-0.692717;VDB=0.00175505	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	PID_FANCONI_PATHWAY;PID_NOTCH_PATHWAY;PID_NFKAPPABATYPICALPATHWAY;PID_BETACATENIN_DEG_PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_ATR_PATHWAY;PID_PS1PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_MTOR_4PATHWAY;PID_PLK1_PATHWAY;PID_HEDGEHOG_GLIPATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_TAP63PATHWAY	.	.	PM2
H	7	149558861	rs751778823	C	T	222	PASS	ZNF862	zinc finger protein 862	exonic	NM_001099220	.	missense SNV	ZNF862:NM_001099220:exon7:c.C2612T:p.T871M	ENST00000223210.4,ENST00000608963.1	.	7q36.1	.	.	.	.	.	rs751778823	.	.	.	.	.	.	5.116e-05	0.0002	.	.	0.162,T	0.026,B	0.203,B	1,N	0.241787,N	1.75,L	5.37,T	6.7737	0.629	0.741	1.511842,13.38	3.54	AC=1;AN=2;BQB=0.514068;DP4=34,21,36,9;DP=132;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.397693;SF=20;SGB=-0.693147;VDB=0.915709	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:100:45:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	7	150846188	rs11975799	C	T	222	PASS	GBX1	gastrulation brain homeobox 1	exonic	NM_001098834	.	missense SNV	GBX1:NM_001098834:exon2:c.G580A:p.A194T	ENST00000297537.4	.	7q36.1	.	.	.	.	.	rs11975799	.	.	0.00664452	0.006	0.0233626	0.0176	0.0086	0.0133	0.00842266444104	0.00841346879808	0.078,T	0.002,B	0.003,B	0.999976,N	0.960876,U	0.345,N	-2.93,D	3.1719	0.141	1.560	1.849126,15.28	.	AC=1;AN=2;BQB=0.949716;DP4=10,14,9,19;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.556314;SF=20;SGB=-0.693054;VDB=0.123401	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:28:255,0,255	.	.	.	.	C	T	0	1	Gastrulatin brain homeo box 1	.	.	.	8097731|1720547	.	.	.	.	.	.	.	
H	7	150935124	rs28774985	C	A	222	PASS	CHPF2	chondroitin polymerizing factor 2	exonic	NM_001284295,NM_019015	.	missense SNV	CHPF2:NM_019015:exon4:c.C1676A:p.T559K,CHPF2:NM_001284295:exon5:c.C1652A:p.T551K	ENST00000495645.1,ENST00000035307.2	.	7q36.1	.	.	Score=792;Name=V$OLF1_01	.	.	rs28774985	.	.	0.00498339	0.004	0.000798722	.	0.0006	0.0077	0.0114854768606	0.00480769432692	0.143,T	0.045,B	0.154,B	0.769678,N	0.018237,N	-0.695,N	2.48,T	10.3665	2.488	4.778	2.352590,18.51	4.8	AC=2;AN=4;BQB=0.400977;DP4=85,34,89,38;DP=323;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.814227;SF=16,20;SGB=-0.693147;VDB=0.354215	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:116:66:255,0,255	.	.	.	0/1:130:61:255,0,255	.	.	.	.	C	A	0	2	Chondroitin polymerizing factor 2	.	.	.	12145278|10718198	.	.	.	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	
L	7	151935831	rs62478303	G	A	75.59	PASS	KMT2C	lysine (K)-specific methyltransferase 2C	exonic	NM_170606	.	synonymous SNV	KMT2C:NM_170606:exon15:c.C2613T:p.P871P	ENST00000355193.2,ENST00000262189.6	.	7q36.1	.	.	.	Score=0.968146;Name=chr2:91875859	.	rs62478303	.	.	.	.	.	.	0.0313	0.0231	.	0.0391304	.	.	.	.	.	.	.	.	2.749	6.143	.	5.53	AC=4;AN=8;BQB=0.980754;DP4=36,26,14,8;DP=117;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.0193289;MQSB=0.925212;RPB=0.0480056;SF=10,14,20,24;SGB=-0.590765;VDB=0.0243383	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:18:5:85,0,255	.	.	.	0/1:16:4:106,0,255	.	.	.	.	.	0/1:17:3:65,0,255	.	.	.	0/1:33:10:185,0,255	G	A	0	4	Lysine (K)-specific methyltransferase 2C	.	.	.	22726846|20671152|11891048|10819331	.	.	.	.	.	.	.	
H	7	158380277	rs370283162	G	T	90.5	PASS	PTPRN2	protein tyrosine phosphatase, receptor type, N polypeptide 2	exonic	NM_001308267,NM_002847,NM_130842,NM_130843	.	missense SNV	PTPRN2:NM_001308267:exon1:c.C85A:p.R29S,PTPRN2:NM_002847:exon1:c.C85A:p.R29S,PTPRN2:NM_130842:exon1:c.C85A:p.R29S,PTPRN2:NM_130843:exon1:c.C85A:p.R29S	ENST00000389418.4,ENST00000389416.4,ENST00000389413.3,ENST00000409483.1	CpG: 152	7q36.3	.	.	.	.	.	rs370283162	.	.	0.0365449	0.0337	0.00698882	.	0.0052	0.0397	0.0260337379786	0.0312500346154	0.008,D	0.204,B	0.246,B	0.952937,N	.	0.55,N	3.67,T	7.0858	1.342	1.599	5.593474,26.5	2.48	AC=2;AN=4;BQB=0.991513;DP4=19,4,9,0;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.735784;SF=0,20;SGB=-0.556411;VDB=0.397076	GT:DP:DV:PL	0/1:15:4:127,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:5:122,0,255	.	.	.	.	G	T	0	2	Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2	.	.	.	16418280|9657860|8954911|8878534|8798755|8663434|8637868	BIOPOLYMER_METABOLIC_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_TYPE_I_DIABETES_MELLITUS	.	.	.	
L	7	158534216	rs77532359	T	C	209.5	PASS	ESYT2	extended synaptotagmin-like protein 2	exonic	NM_020728	.	synonymous SNV	ESYT2:NM_020728:exon17:c.A2247G:p.E749E	ENST00000435514.2,ENST00000251527.5	.	7q36.3	.	.	.	.	.	rs77532359	.	.	0.00996678	0.0119	0.00319489	.	0.0013	0.0124	0.00996678	0.00961538588942	.	.	.	.	.	.	.	.	-0.080	0.359	.	.	AC=3;AN=4;BQB=0.782705;DP4=15,0,67,4;DP=105;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.965069;SF=0,20;SGB=-0.693147;VDB=0.0487593	GT:DP:DV:PL	1/1:51:51:255,154,0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:20:224,0,174	.	.	.	.	T	C	1	1	.	.	.	.		.	.	.	.	.	.	.	
H	8	442532	rs775132354	C	G	222	PASS	TDRP	testis development related protein	exonic	NM_001256113,NM_175075	.	missense SNV	TDRP:NM_001256113:exon3:c.G425C:p.G142A,TDRP:NM_175075:exon4:c.G425C:p.G142A	ENST00000324079.6,ENST00000427263.2,ENST00000523656.1	.	8p23.3	.	.	.	.	.	rs775132354	.	.	.	.	.	.	2.003e-05	0.0003	.	.	0.017,D	0.536,P	0.972,D	0.999144,D	0.000018,N	2.36,M	.	14.5518	1.473	1.796	3.485992,23.1	5.19	AC=1;AN=2;BQB=0.138715;DP4=14,9,23,5;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.661792;SF=20;SGB=-0.693054;VDB=0.847438	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:28:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	8	2021547	rs34316994	G	A	213	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	missense SNV	MYOM2:NM_003970:exon10:c.G1087A:p.V363I	ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	Score=875;Name=V$AP1_01	.	.	rs34316994	.	.	0.0365449	0.0317	0.0453275	0.0294	0.0316	0.0328	0.0365449	0.0312500346154	0.384,T	0.007,B	0.002,B	1,N	0.008145,N	1.845,L	-0.24,T	10.4428	0.310	0.248	.	2.85	AC=5;AN=10;BQB=0.355045;DP4=32,68,39,54;DP=252;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.750947;SF=5,6,20,22,23;SGB=-0.692914;VDB=0.0318502	GT:DP:DV:PL	.	.	.	.	.	0/1:47:25:255,0,255	0/1:33:13:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:15:211,0,255	.	0/1:23:11:255,0,255	0/1:48:29:255,0,255	.	G	A	0	5	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2088688	rs3736654	G	T	164	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon33:c.G3843T:p.G1281G	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs3736654	.	.	0.0315615	0.0337	0.0107827	0.0004	0.0066	0.0432	0.029096475804	0.0372596394231	.	.	.	.	.	.	.	.	-2.719	-2.066	.	.	AC=2;AN=4;BQB=0.94394;DP4=10,3,11,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.95494;RPB=0.996401;SF=17,20;SGB=-0.651104;VDB=0.140097	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:8:215,0,124	.	.	0/1:15:6:179,0,233	.	.	.	.	G	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2088703	rs3736655	T	C	188.5	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon33:c.T3858C:p.A1286A	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	Score=847;Name=V$TAL1BETAITF2_01	.	.	rs3736655	.	.	0.0315615	0.0337	0.0107827	0.0004	0.0068	0.0437	0.0275650871363	0.0372596394231	.	.	.	.	.	.	.	.	-0.386	0.177	.	.	AC=2;AN=4;BQB=0.785785;DP4=8,5,12,5;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898397;SF=17,20;SGB=-0.662043;VDB=0.240575	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:9:205,0,121	.	.	0/1:17:8:238,0,255	.	.	.	.	T	C	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2088717	rs143646514	G	T	206.5	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	missense SNV	MYOM2:NM_003970:exon33:c.G3872T:p.C1291F	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs143646514	.	.	0.0315615	0.0337	0.0107827	0.0004	0.0068	0.0435	0.0275650871363	0.0372596394231	0.654,T	0.646,P	0.974,D	0.980159,D	0.001239,N	1.83,L	1.36,T	15.5156	2.338	3.202	6.285029,29.1	5.02	AC=2;AN=4;BQB=0.558035;DP4=8,5,11,6;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.961166;RPB=0.604728;SF=17,20;SGB=-0.662043;VDB=0.12826	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:9:234,0,141	.	.	0/1:17:8:245,0,248	.	.	.	.	G	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2088727	rs3736656	T	C	218	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon33:c.T3882C:p.T1294T	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs3736656	.	.	0.0315615	0.0337	0.0107827	0.0005	0.0068	0.0435	0.0275650871363	0.0372596394231	.	.	.	.	.	.	.	.	-2.433	-2.813	.	.	AC=2;AN=4;BQB=0.651439;DP4=6,6,11,6;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.961166;RPB=0.558035;SF=17,20;SGB=-0.662043;VDB=0.130321	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:9:247,0,141	.	.	0/1:16:8:255,0,230	.	.	.	.	T	C	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2088775	rs3736657	C	T	170.5	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon33:c.C3930T:p.D1310D	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	Score=726;Name=V$PAX4_04	.	.	rs3736657	.	.	0.0315615	0.0337	0.0107827	0.0004	0.0068	0.0435	0.0329249744257	0.0384615552885	.	.	.	.	.	.	.	.	-2.499	-0.867	.	.	AC=2;AN=4;BQB=0.89338;DP4=6,5,8,4;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.974597;MQSB=0.974597;RPB=0.406082;SF=17,20;SGB=-0.590765;VDB=0.754056	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:5:158,0,110	.	.	0/1:14:7:249,0,221	.	.	.	.	C	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2089096	rs117478253	T	C	222	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	missense SNV	MYOM2:NM_003970:exon34:c.T3997C:p.F1333L	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs117478253	.	.	0.0315615	0.0337	0.0107827	0.0004	0.0068	0.0437	0.0336906957121	0.0384615552885	1.0,T	0.0,B	0.0,B	0.988101,N	0.000000,N	-2.515,N	1.01,T	14.603	1.400	3.493	2.773358,21.2	5.35	AC=2;AN=4;BQB=0.969784;DP4=28,2,33,8;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986456;SF=17,20;SGB=-0.692067;VDB=0.36433	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:20:255,0,208	.	.	0/1:40:21:255,0,255	.	.	.	.	T	C	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2091318	rs2280907	G	A	222	PASS	MYOM2	myomesin 2	splicing	NM_003970	NM_003970:exon36:c.4025-7G>A	.	.	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs2280907	.	.	0.0315615	0.0357	0.0111821	0.0005	0.0068	0.0439	0.0283308084227	0.0360577235577	.	.	.	.	.	.	.	.	-2.778	-2.990	.	.	AC=2;AN=4;BQB=0.678495;DP4=45,18,41,20;DP=168;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.918304;SF=17,20;SGB=-0.693127;VDB=0.00904369	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:33:255,0,255	.	.	0/1:71:28:255,0,255	.	.	.	.	G	A	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2091341	rs2280908	C	T	222	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon36:c.C4041T:p.I1347I	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs2280908	.	.	0.0315615	0.0357	0.0111821	0.0004	0.0068	0.0436	0.0298621970904	0.0360577235577	.	.	.	.	.	.	.	.	-1.600	-1.630	1.124129,11.34	.	AC=2;AN=4;BQB=0.90182;DP4=40,23,33,27;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.916249;SF=17,20;SGB=-0.69312;VDB=0.121753	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:32:255,0,255	.	.	0/1:70:28:255,0,255	.	.	.	.	C	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
L	8	2091344	rs2280909	C	T	222	PASS	MYOM2	myomesin 2	exonic	NM_003970	.	synonymous SNV	MYOM2:NM_003970:exon36:c.C4044T:p.G1348G	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	Score=778;Name=V$PAX2_01	.	.	rs2280909	.	.	0.0315615	0.0357	0.0111821	0.0004	0.0068	0.0436	0.0298621970904	0.0360577235577	.	.	.	.	.	.	.	.	-1.450	-1.073	1.448698,13.04	.	AC=2;AN=4;BQB=0.984428;DP4=37,25,31,27;DP=154;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.719601;SF=17,20;SGB=-0.69311;VDB=0.0183996	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:31:255,0,255	.	.	0/1:68:27:255,0,255	.	.	.	.	C	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
H	8	2092580	rs2280910	G	T	222	PASS	MYOM2	myomesin 2	splicing	NM_003970	NM_003970:exon37:c.4081-8G>T	.	.	ENST00000520298.1,ENST00000262113.4,ENST00000523438.1	.	8p23.3	.	.	.	.	.	rs2280910	.	.	.	.	.	0.0004	0.0067	0.0422	0.0355114	0.0521739	.	.	.	.	.	.	.	.	-0.693	-2.149	.	.	AC=2;AN=4;BQB=0.169796;DP4=51,4,56,8;DP=155;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898179;SF=17,20;SGB=-0.693145;VDB=0.899654	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:40:255,0,255	.	.	0/1:57:24:255,0,255	.	.	.	.	G	T	0	2	Myomesin 2	.	.	.	9933576|7505783	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_MUSCLE	.	.	.	.	
M	8	10387034	rs748699699	A	G	222	PASS	PRSS55	protease, serine, 55	exonic	NM_001197020,NM_198464	.	missense SNV	PRSS55:NM_001197020:exon2:c.A172G:p.I58V,PRSS55:NM_198464:exon2:c.A172G:p.I58V	ENST00000523024.1,ENST00000522210.1,ENST00000328655.3	.	8p23.1	.	.	.	.	.	rs748699699	.	.	.	.	.	.	4.118e-05	0	.	.	0.524,T	0.004,B	0.015,B	1,N	.	0.895,L	-2.29,D	9.0716	-2.479	-1.362	.	.	AC=1;AN=2;BQB=0.371217;DP4=27,9,21,4;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.333911;SF=20;SGB=-0.692914;VDB=0.0860448	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:25:255,0,255	.	.	.	.	A	G	0	1	Protease, serine, 55	.	.	.	18844450	.	.	.	.	.	.	.	PM2
L	8	10467637	rs4240659	T	C	223.29	PASS	RP1L1	retinitis pigmentosa 1-like 1	exonic	NM_178857	.	missense SNV	RP1L1:NM_178857:exon4:c.A3971G:p.E1324G	ENST00000382483.3	.	8p23.1	.	.	.	.	Score=244;Name="4522149:CT-rich(Low_complexity)"	rs4240659	.	.	.	.	.	.	.	.	0.225852	0.221739	0.127,T	0.0,B	0.0,B	1,P	.	0.55,N	2.94,T	7.7672	-0.966	1.132	.	.	AC=21;AN=34;BQB=0.199069;DP4=1034,510,1251,549;DP=4964;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.646512;MQSB=0.904057;RPB=0.680755;SF=0,1,2,4,6,10,11,12,14,15,16,17,19,20,21,23,24;SGB=-0.693147;VDB=4.43461e-06	GT:DP:DV:PL	1/1:152:152:255,255,0	0/1:196:75:255,0,255	0/1:235:59:255,0,255	.	0/1:180:86:255,0,255	.	1/1:183:183:255,255,0	.	.	.	0/1:179:81:255,0,255	0/1:185:72:255,0,255	1/1:165:164:255,255,0	.	0/1:162:76:255,0,255	0/1:134:55:255,0,255	0/1:217:80:255,0,255	1/1:139:139:255,255,0	.	0/1:277:115:255,0,255	0/1:222:88:255,0,255	0/1:237:111:255,0,255	.	0/1:245:102:255,0,255	0/1:236:162:255,0,255	T	C	4	13	Occult macular dystrophy, 613587 (3)	.	.	.	23281133|22605915|20826268|12724644|12634863	.	.	.	.	.	.	.	
L	8	11058669	rs373654870	G	A	222	PASS	XKR6	XK, Kell blood group complex subunit-related family, member 6	exonic	NM_173683	.	synonymous SNV	XKR6:NM_173683:exon1:c.C180T:p.C60C	ENST00000416569.2,ENST00000297303.4	CpG: 20	8p23.1	.	.	.	.	.	rs373654870	.	.	0.00166113	0.004	0.000798722	.	0.0002	0.0145	0.00306278537519	0.00240384754808	.	.	.	.	.	.	.	.	1.609	3.844	.	3.43	AC=1;AN=2;BQB=0.166998;DP4=17,5,10,2;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.781207;SF=20;SGB=-0.680642;VDB=0.146167	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:12:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	8	11566352	rs573733348	C	A	77	PASS	GATA4	GATA binding protein 4	exonic	NM_001308093,NM_002052	.	synonymous SNV	GATA4:NM_001308093:exon1:c.C531A:p.A177A,GATA4:NM_002052:exon2:c.C531A:p.A177A	ENST00000335135.4,ENST00000532059.1,ENST00000528712.1	CpG: 187	8p23.1	.	.	.	.	.	rs573733348	.	.	0.00830565	0.0159	0.00319489	.	0.0001	0.0083	0.00689127303216	0.0084134625	.	.	.	.	.	.	.	.	-0.313	-2.360	2.784040,21.3	.	AC=1;AN=2;BQB=0.861511;DP4=3,0,1,2;DP=9;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.861511;MQSB=1;RPB=0.28717;SF=20;SGB=-0.511536;VDB=0.131948	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:6:3:110,0,119	.	.	.	.	C	A	0	1	Atrial septal defect 2, 607941 (3); Ventricular septal defect 1, 614429 (3); Atrioventricular septal defect 4, 614430 (3); ?Testicular anomalies with or without congenital heart disease, 615542 (3); Tetralogy of Fallot, 187500 (3)	.	.	.	26404840|22101736|21637914|21562492|21220346|21110066|20659440|20347099|20336144|19494035|19396158|18672102|18055909|17975667|17643447|16847256|16329098|16159935|15902305|15810002|15310850|12845333|11864602|11746033|11443219|11297508|11061558|10999851|10096597|9403619|9312027|9207128|8978781|8455608|8007990|7721094|7665171|3413070	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;HEART_DEVELOPMENT;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	PID_HES_HEYPATHWAY	BIOCARTA_ALK_PATHWAY;BIOCARTA_NFAT_PATHWAY	REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_SYNTHESIS_SECRETION_AND_INACTIVATION_OF_GIP;REACTOME_INCRETIN_SYNTHESIS_SECRETION_AND_INACTIVATION;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	
H	8	11689122	.	G	A	222	PASS	FDFT1	farnesyl-diphosphate farnesyltransferase 1	exonic	NM_001287742,NM_001287743,NM_001287744,NM_001287745,NM_001287747,NM_001287748,NM_001287749,NM_001287750,NM_001287751,NM_001287756,NM_004462	.	missense SNV	FDFT1:NM_001287756:exon4:c.G474A:p.M158I,FDFT1:NM_001287750:exon6:c.G1152A:p.M384I,FDFT1:NM_001287751:exon6:c.G720A:p.M240I,FDFT1:NM_001287744:exon7:c.G783A:p.M261I,FDFT1:NM_001287747:exon7:c.G783A:p.M261I,FDFT1:NM_001287748:exon7:c.G783A:p.M261I,FDFT1:NM_001287749:exon7:c.G783A:p.M261I,FDFT1:NM_004462:exon7:c.G975A:p.M325I,FDFT1:NM_001287743:exon8:c.G975A:p.M325I,FDFT1:NM_001287745:exon8:c.G783A:p.M261I,FDFT1:NM_001287742:exon9:c.G975A:p.M325I	ENST00000525777.1,ENST00000528812.1,ENST00000220584.4,ENST00000443614.2,ENST00000530664.1,ENST00000446331.2,ENST00000525900.1,ENST00000528643.1,ENST00000538689.1	.	8p23.1	.	.	Score=932;Name=V$CDPCR3HD_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.973,T	0.24,B	0.739,P	0.999999,D	0.000000,D	1.935,L	-0.5,T	14.5267	1.583	9.574	3.401465,23.0	5.2	AC=1;AN=2;BQB=0.970324;DP4=7,8,9,8;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.931181;SF=20;SGB=-0.690438;VDB=0.89342	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:17:255,0,255	.	.	.	.	G	A	0	1	Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase)	.	.	.	19054015|16440058|8020937|7685352|7665618	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	KEGG_STEROID_BIOSYNTHESIS	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CHOLESTEROL_BIOSYNTHESIS	PM2
L	8	11995439	rs776043740	G	A	42.26	PASS	USP17L2	ubiquitin specific peptidase 17-like family member 2	exonic	NM_201402	.	synonymous SNV	USP17L2:NM_201402:exon1:c.C831T:p.I277I	ENST00000333796.3,ENST00000434078.2	.	8p23.1	.	.	.	Score=0.969783;Name=chr8:7788474	.	rs776043740	.	.	.	.	.	.	3.196e-05	0.0003	.	0.00869565	.	.	.	.	.	.	.	.	-1.190	0.369	.	.	AC=2;AN=4;BQB=0.970702;DP4=55,39,12,13;DP=154;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=0.000192602;MQSB=0.30906;RPB=0.0149949;SF=20,23;SGB=-0.676189;VDB=0.00023188	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:11:58,0,255	.	.	0/1:58:14:98,0,255	.	G	A	0	2	Ubiquitin specific peptidase 17-like family member 2	.	.	.	14699124	.	.	.	.	.	.	.	
M	8	12878982	rs3739308	T	C	222	PASS	KIAA1456	KIAA1456	exonic	NM_001099677,NM_020844	.	missense SNV	KIAA1456:NM_001099677:exon2:c.T416C:p.I139T,KIAA1456:NM_020844:exon5:c.T794C:p.I265T	ENST00000524591.2,ENST00000447063.2	.	8p22	.	.	Score=816;Name=V$IRF7_01	.	.	rs3739308	.	.	0.0431894	0.0357	0.00938498	0.0045	0.0110	0.0388	0.0413476260337	0.0396634889423	0.476,T	0.0,B	0.0,B	1,N	0.612822,N	0.665,N	2.91,T	5.6542	-0.698	-1.201	.	.	AC=2;AN=4;BQB=0.858661;DP4=29,3,19,11;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.595707;SF=16,20;SGB=-0.691153;VDB=0.528534	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:18:255,0,255	.	.	.	0/1:28:12:255,0,226	.	.	.	.	T	C	0	2	KIAA1456 gene	.	.	.	10819331	.	.	.	.	.	.	.	
H	8	17813137	rs78131993	C	T	193	PASS	PCM1	pericentriolar material 1	exonic	NM_001315507,NM_001315508,NM_006197	.	missense SNV	PCM1:NM_001315507:exon10:c.C1447T:p.H483Y,PCM1:NM_001315508:exon10:c.C1447T:p.H483Y,PCM1:NM_006197:exon10:c.C1447T:p.H483Y	ENST00000518537.1,ENST00000519253.1,ENST00000524226.1,ENST00000325083.8	.	8p22	.	.	.	.	.	rs78131993	.	.	0.00332226	0.005	0.000998403	.	0.0004	0.0054	0.00332226	0.0036057709375	0.005,D	0.961,D	0.97,D	0.939828,N	0.001210,N	1.39,L	1.88,T	12.1763	2.645	4.274	1.906006,15.62	4.88	AC=2;AN=4;BQB=0.996597;DP4=10,16,7,21;DP=71;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946915;SF=12,20;SGB=-0.651104;VDB=0.231522	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:8:197,0,255	.	.	.	.	.	.	.	0/1:35:20:255,0,255	.	.	.	.	C	T	0	2	Pericentriolar material 1	.	.	.	22767577|20360304|18772192|12403812|10980597|10579718|8120099|7698772	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	
L	8	18079832	rs775384420	T	C	222	PASS	NAT1	N-acetyltransferase 1 (arylamine N-acetyltransferase)	exonic	NM_000662,NM_001160170,NM_001160171,NM_001160172,NM_001160173,NM_001160174,NM_001160175,NM_001160176,NM_001160179,NM_001291962	.	synonymous SNV	NAT1:NM_001160174:exon1:c.T276C:p.Y92Y,NAT1:NM_000662:exon3:c.T276C:p.Y92Y,NAT1:NM_001160171:exon4:c.T276C:p.Y92Y,NAT1:NM_001160173:exon4:c.T276C:p.Y92Y,NAT1:NM_001160176:exon4:c.T462C:p.Y154Y,NAT1:NM_001160170:exon5:c.T276C:p.Y92Y,NAT1:NM_001160172:exon5:c.T276C:p.Y92Y,NAT1:NM_001160175:exon5:c.T462C:p.Y154Y,NAT1:NM_001160179:exon5:c.T276C:p.Y92Y,NAT1:NM_001291962:exon6:c.T462C:p.Y154Y	ENST00000535084.1,ENST00000520546.1,ENST00000539092.1,ENST00000518029.1,ENST00000517492.1,ENST00000517441.1,ENST00000307719.4,ENST00000541942.1,ENST00000545197.1	.	8p22	.	.	.	.	.	rs775384420	.	.	.	.	.	.	0.0002	0.0025	0.00142045	.	.	.	.	.	.	.	.	.	1.746	-0.145	.	3.1	AC=1;AN=2;BQB=0.814792;DP4=29,18,21,6;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994327;SF=20;SGB=-0.693021;VDB=0.612207	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:27:255,0,255	.	.	.	.	T	C	0	1	Arylamine N-acetyltransferase-1	.	.	.	18334921|16788383|16416399|11005799|10767335|9834266|9731715|9511183|9284941|9168895|8442668|8110178|7773298|7627961|7585581|7585580|3209851|2340091|2068113|1968463	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	
L	8	18080015	rs4986990	G	A	222	PASS	NAT1	N-acetyltransferase 1 (arylamine N-acetyltransferase)	exonic	NM_000662,NM_001160170,NM_001160171,NM_001160172,NM_001160173,NM_001160174,NM_001160175,NM_001160176,NM_001160179,NM_001291962	.	synonymous SNV	NAT1:NM_001160174:exon1:c.G459A:p.T153T,NAT1:NM_000662:exon3:c.G459A:p.T153T,NAT1:NM_001160171:exon4:c.G459A:p.T153T,NAT1:NM_001160173:exon4:c.G459A:p.T153T,NAT1:NM_001160176:exon4:c.G645A:p.T215T,NAT1:NM_001160170:exon5:c.G459A:p.T153T,NAT1:NM_001160172:exon5:c.G459A:p.T153T,NAT1:NM_001160175:exon5:c.G645A:p.T215T,NAT1:NM_001160179:exon5:c.G459A:p.T153T,NAT1:NM_001291962:exon6:c.G645A:p.T215T	ENST00000535084.1,ENST00000520546.1,ENST00000539092.1,ENST00000518029.1,ENST00000517492.1,ENST00000517441.1,ENST00000307719.4,ENST00000541942.1,ENST00000545197.1	.	8p22	.	.	.	.	.	rs4986990	.	.	0.00498339	0.0069	0.0169728	0.0171	0.0209	0.0074	0.0045941793415	0.00480769432692	.	.	.	.	.	.	.	.	0.625	-0.797	1.180725,11.65	.	AC=1;AN=2;BQB=0.321757;DP4=22,15,16,17;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.250132;SF=20;SGB=-0.693127;VDB=0.771954	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:70:33:255,0,255	.	.	.	.	G	A	0	1	Arylamine N-acetyltransferase-1	.	.	.	18334921|16788383|16416399|11005799|10767335|9834266|9731715|9511183|9284941|9168895|8442668|8110178|7773298|7627961|7585581|7585580|3209851|2340091|2068113|1968463	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE_II_CONJUGATION	
H	8	18413805	.	C	T	222	PASS	PSD3	pleckstrin and Sec7 domain containing 3	exonic	NM_015310,NM_206909	.	missense SNV	PSD3:NM_206909:exon12:c.G1240A:p.E414K,PSD3:NM_015310:exon15:c.G2842A:p.E948K	ENST00000286485.8,ENST00000523619.1,ENST00000440756.2,ENST00000428502.2,ENST00000327040.8	.	8p22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002,D	0.946,D	0.999,D	0.999995,D	0.000149,U	2.815,M	2.13,T	17.3277	2.700	5.581	7.711951,35	5.7	AC=1;AN=2;BQB=0.760492;DP4=15,11,12,6;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.916447;SF=20;SGB=-0.691153;VDB=0.00717937	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:18:255,0,255	.	.	.	.	C	T	0	1	Pleckstrin and Sec7 domains-containing protein 3	.	.	.	16270321	.	.	.	KEGG_ENDOCYTOSIS	.	.	.	PM2
L	8	21827704	rs189823406	C	T	183.67	PASS	XPO7	exportin 7	exonic	NM_015024	.	synonymous SNV	XPO7:NM_015024:exon4:c.C309T:p.F103F	ENST00000433566.4,ENST00000252512.9,ENST00000434536.1,ENST00000518017.1	.	8p21.3	.	.	Score=856;Name=V$CREB_Q2	.	.	rs189823406	.	.	0.0365449	0.0377	0.0081869	0.0002	0.0022	0.0262	0.0191424404594	0.0312500346154	.	.	.	1,D	.	.	.	14.9263	-1.151	-1.666	2.156842,17.23	.	AC=3;AN=6;BQB=0.925999;DP4=13,8,19,7;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;MQSB=1;RPB=0.948864;SF=12,19,20;SGB=-0.636426;VDB=0.134494	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:7:213,0,205	.	.	.	.	.	.	0/1:11:6:182,0,173	0/1:22:13:255,0,234	.	.	.	.	C	T	0	3	Exportin 7	.	.	.	11071879|11024021|9872452	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_EXPORT_FROM_NUCLEUS;NUCLEAR_EXPORT;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	ORGANELLE_PART;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;CYTOPLASM;PORE_COMPLEX;NUCLEUS;ORGANELLE_MEMBRANE;ENVELOPE;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;NUCLEAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;NUCLEAR_PORE;NUCLEAR_MEMBRANE_PART;PROTEIN_COMPLEX	.	.	.	.	.	
L	8	21925103	rs140385917	C	T	222	PASS	DMTN	dematin actin binding protein	exonic	NM_001114135,NM_001114136,NM_001114137,NM_001114138,NM_001114139,NM_001302816,NM_001302817,NM_001978	.	synonymous SNV	DMTN:NM_001114139:exon3:c.C84T:p.I28I,DMTN:NM_001302817:exon3:c.C84T:p.I28I,DMTN:NM_001114135:exon4:c.C159T:p.I53I,DMTN:NM_001114136:exon4:c.C159T:p.I53I,DMTN:NM_001114137:exon4:c.C159T:p.I53I,DMTN:NM_001114138:exon4:c.C159T:p.I53I,DMTN:NM_001302816:exon4:c.C159T:p.I53I,DMTN:NM_001978:exon4:c.C159T:p.I53I	ENST00000265800.5,ENST00000358242.3,ENST00000519907.1,ENST00000443491.2,ENST00000381470.3,ENST00000523266.1,ENST00000523782.2,ENST00000517600.1,ENST00000432128.1,ENST00000415253.1	.	8p21.3	.	.	Score=942;Name=V$GATA2_01	.	.	rs140385917	.	.	0.0149502	0.0109	0.00219649	.	0.0006	0.0089	0.0122511631853	0.0156250233173	.	.	.	.	.	.	.	.	0.268	0.890	1.844771,15.25	2.64	AC=1;AN=2;BQB=0.695612;DP4=17,15,14,13;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.907249;SF=20;SGB=-0.693021;VDB=0.162074	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:27:255,0,255	.	.	.	.	C	T	0	1	Erythrocyte membrane protein band 49 (dematin)	.	.	.	17142833|12011427|8608138|8341682|7615546|7607697|2722813	.	.	.	.	.	.	.	
L	8	22421982	rs3758036	C	T	222	PASS	SORBS3	sorbin and SH3 domain containing 3	exonic	NM_005775	.	missense SNV	SORBS3:NM_005775:exon10:c.C764T:p.P255L	ENST00000240123.7	.	8p21.3	.	.	.	.	.	rs3758036	.	.	0.0780731	0.0605	0.0123802	.	0.0035	0.0475	0.0658499134763	0.0709134653846	0.001,D	0.996,D	1.0,D	0.999998,D	0.000411,D	1.895,L	1.89,T	13.6948	2.294	3.928	6.739775,32	4.95	AC=6;AN=12;BQB=0.999451;DP4=204,176,173,161;DP=966;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.590214;SF=0,12,13,20,21,24;SGB=-0.693136;VDB=0.110306	GT:DP:DV:PL	0/1:73:35:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:88:44:255,0,255	0/1:166:81:255,0,255	.	.	.	.	.	.	0/1:119:49:255,0,255	0/1:132:63:255,0,255	.	.	0/1:136:62:255,0,255	C	T	0	6	Sorbin and SH3 domains-containing 3	.	.	.	16923119|11825889|9885244	ACTIN_FILAMENT_ORGANIZATION;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BUNDLE_FORMATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS	ADHERENS_JUNCTION;CELL_JUNCTION;MEMBRANE_PART;MEMBRANE;CELL_SUBSTRATE_ADHERENS_JUNCTION;CELL_MATRIX_JUNCTION;BASOLATERAL_PLASMA_MEMBRANE;FOCAL_ADHESION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	
H	8	22422866	rs548045720	A	G	222	PASS	SORBS3	sorbin and SH3 domain containing 3	exonic	NM_005775	.	missense SNV	SORBS3:NM_005775:exon11:c.A902G:p.K301R	ENST00000240123.7,ENST00000523740.1	CpG: 118	8p21.3	.	.	.	.	.	rs548045720	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0070	0.00382848235835	0.00332226	0.011,D	0.04,B	0.281,B	1,D	0.023301,U	1.845,L	3.23,T	10.4985	1.724	3.855	1.893770,15.55	4.66	AC=1;AN=2;BQB=0.927416;DP4=5,9,5,8;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9585;SF=20;SGB=-0.683931;VDB=0.381044	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	A	G	0	1	Sorbin and SH3 domains-containing 3	.	.	.	16923119|11825889|9885244	ACTIN_FILAMENT_ORGANIZATION;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BUNDLE_FORMATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS	ADHERENS_JUNCTION;CELL_JUNCTION;MEMBRANE_PART;MEMBRANE;CELL_SUBSTRATE_ADHERENS_JUNCTION;CELL_MATRIX_JUNCTION;BASOLATERAL_PLASMA_MEMBRANE;FOCAL_ADHESION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	
H	8	22426781	rs540462491	C	T	204	PASS	SORBS3	sorbin and SH3 domain containing 3	exonic	NM_001018003,NM_005775	.	missense SNV	SORBS3:NM_001018003:exon6:c.C400T:p.R134C,SORBS3:NM_005775:exon17:c.C1426T:p.R476C	ENST00000428103.1,ENST00000240123.7,ENST00000523740.1	.	8p21.3	.	.	.	.	.	rs540462491	.	.	0.00332226	0.003	0.000599042	.	0.0004	0.0044	0.00332226	0.00332226	0.0,D	0.592,P	0.968,D	0.999999,D	0.019472,N	1.735,L	0.69,T	13.0891	1.334	1.943	7.631160,35	4.69	AC=1;AN=2;BQB=0.638766;DP4=9,10,3,8;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.496417;SF=20;SGB=-0.676189;VDB=0.00300542	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:11:237,0,255	.	.	.	.	C	T	0	1	Sorbin and SH3 domains-containing 3	.	.	.	16923119|11825889|9885244	ACTIN_FILAMENT_ORGANIZATION;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BUNDLE_FORMATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS	ADHERENS_JUNCTION;CELL_JUNCTION;MEMBRANE_PART;MEMBRANE;CELL_SUBSTRATE_ADHERENS_JUNCTION;CELL_MATRIX_JUNCTION;BASOLATERAL_PLASMA_MEMBRANE;FOCAL_ADHESION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	REACTOME_MUSCLE_CONTRACTION;REACTOME_SMOOTH_MUSCLE_CONTRACTION	
L	8	22974415	rs11780526	G	A	171.52	PASS	TNFRSF10C	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	exonic	NM_003841	.	synonymous SNV	TNFRSF10C:NM_003841:exon5:c.G651A:p.P217P	ENST00000540813.1,ENST00000356864.3	.	8p21.3	.	.	.	.	.	rs11780526	.	.	.	.	.	.	0.0040	0.0258	.	0.0782609	.	.	.	.	.	.	.	.	-0.922	-1.133	0.921343,10.20	.	AC=17;AN=30;BQB=0.633333;DP4=178,60,146,61;DP=662;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=0.866667;MQSB=0.989637;RPB=0.1;SF=1,3,4,5,6,12,14,15,16,17,18,19,20,21,23;SGB=-0.688148;VDB=0.255647	GT:DP:DV:PL	.	1/1:17:15:255,5,0	.	0/1:35:9:118,0,255	0/1:28:12:209,0,228	0/1:35:19:255,0,228	0/1:28:11:221,0,255	.	.	.	.	.	0/1:23:9:174,0,190	.	0/1:23:11:195,0,221	0/1:28:8:139,0,255	0/1:37:19:255,0,250	0/1:27:6:61,0,255	1/1:28:27:255,70,0	0/1:36:20:255,0,255	0/1:28:12:191,0,255	0/1:36:14:239,0,255	.	0/1:36:15:238,0,240	.	G	A	2	13	Tumor necrosis factor receptor superfamily, member 10C	.	.	.	9382840|9373179|9325248|9314565|9242611|9242610	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_APOPTOSIS;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY	PID_TRAIL_PATHWAY;PID_P53DOWNSTREAMPATHWAY	.	.	
H	8	23294491	rs117655902	T	C	222	PASS	ENTPD4	ectonucleoside triphosphate diphosphohydrolase 4	exonic	NM_001128930,NM_004901	.	missense SNV	ENTPD4:NM_001128930:exon10:c.A1306G:p.M436V,ENTPD4:NM_004901:exon10:c.A1330G:p.M444V	ENST00000417069.2,ENST00000356206.6,ENST00000358689.4	.	8p21.3	.	.	Score=820;Name=V$BRN2_01	.	.	rs117655902	.	.	0.00332226	0.006	0.00119808	.	0.0003	0.0046	0.00535987641654	0.0036057709375	0.108,T	0.017,B	0.045,B	0.999997,D	0.000000,D	2.005,M	2.85,T	14.5787	2.125	6.255	1.517272,13.40	5.59	AC=2;AN=4;BQB=1;DP4=35,11,31,6;DP=119;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.732623;SF=3,20;SGB=-0.688148;VDB=0.132851	GT:DP:DV:PL	.	.	.	0/1:37:15:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:22:255,0,255	.	.	.	.	T	C	0	2	Lysosomal apyrase-like protein 1	.	.	.	9556635|9205841	NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;PYRIMIDINE_NUCLEOTIDE_METABOLIC_PROCESS;RIBONUCLEOTIDE_METABOLIC_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;CATABOLIC_PROCESS	ORGANELLE_PART;GOLGI_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;INTEGRAL_TO_GOLGI_MEMBRANE;MEMBRANE_PART;GOLGI_APPARATUS;MEMBRANE;CYTOPLASM;GOLGI_APPARATUS_PART;ORGANELLE_MEMBRANE;INTEGRAL_TO_MEMBRANE;ENDOMEMBRANE_SYSTEM;INTEGRAL_TO_ORGANELLE_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;INTRINSIC_TO_ORGANELLE_MEMBRANE;INTRINSIC_TO_GOLGI_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;PYROPHOSPHATASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_PYRIMIDINE_METABOLISM;KEGG_LYSOSOME	.	.	.	
H	8	24197044	rs147269596	C	T	199	PASS	ADAM28	ADAM metallopeptidase domain 28	exonic	NM_001304351,NM_014265	.	missense SNV	ADAM28:NM_001304351:exon15:c.C1633T:p.R545C,ADAM28:NM_014265:exon15:c.C1633T:p.R545C	ENST00000397649.3,ENST00000523578.1,ENST00000519689.1,ENST00000265769.4,ENST00000518988.1,ENST00000523700.1	.	8p21.2	.	.	.	.	.	rs147269596	.	.	0.00996678	0.0119	0.00239617	.	0.0006	0.0079	0.00689127029096	0.00996678	0.001,D	0.745,P	0.998,D	0.999994,N	.	2.925,M	1.86,T	11.0157	1.559	1.506	5.323246,25.8	4.13	AC=1;AN=2;BQB=0.195801;DP4=13,4,7,1;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.64766;SF=20;SGB=-0.651104;VDB=0.07273	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:8:232,0,255	.	.	.	.	C	T	0	1	A disintegrin and metalloproteinase domain 28	.	.	.	12037602|11724793|10587367|10506182	GAMETE_GENERATION;SEXUAL_REPRODUCTION;REPRODUCTION	.	.	.	PID_INTEGRIN_A4B1_PATHWAY	.	.	
L	8	24349417	rs3736281	T	C	222	PASS	ADAM7	ADAM metallopeptidase domain 7	exonic	NM_003817	.	missense SNV	ADAM7:NM_003817:exon14:c.T1358C:p.I453T	ENST00000523578.1,ENST00000519689.1,ENST00000519364.1,ENST00000175238.6,ENST00000380789.1,ENST00000520720.1	.	8p21.2	.	.	.	.	.	rs3736281	.	.	0.0182724	0.0238	0.028155	0.0088	0.0375	0.0236	0.0191424275651	0.0240384336538	0.025,D	0.339,B	0.801,P	0.104238,P	0.235632,N	2.52,M	2.74,T	13.8874	2.182	4.301	4.177575,23.8	5.68	AC=1;AN=2;BQB=0.901838;DP4=12,3,14,2;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987578;SF=20;SGB=-0.689466;VDB=0.424554	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:16:255,0,255	.	.	.	.	T	C	0	1	A disintegrin and metalloproteinase domain 7	.	.	.	12037602	.	.	.	.	.	.	.	
H	8	25230071	rs143521106	C	G	135	PASS	DOCK5	dedicator of cytokinesis 5	splicing	NM_024940	NM_024940:exon35:c.3525-4C>G	.	.	ENST00000276440.7	.	8p21.2	.	.	.	.	.	rs143521106	.	.	0.0315615	0.0278	0.00559105	.	0.0012	0.0160	0.0315615	0.0315615	.	.	.	.	.	.	.	.	0.282	0.201	.	2.71	AC=1;AN=2;BQB=0.881383;DP4=10,1,5,1;DP=22;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.664254;SF=20;SGB=-0.616816;VDB=0.779105	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:6:168,0,223	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	
H	8	38245512	.	A	G	110	PASS	LETM2	leucine zipper-EF-hand containing transmembrane protein 2	exonic	NM_001286819,NM_001286821	.	missense SNV	LETM2:NM_001286819:exon2:c.A11G:p.Y4C,LETM2:NM_001286821:exon2:c.A11G:p.Y4C	ENST00000524874.1,ENST00000379957.4,ENST00000297720.5,ENST00000519476.2,ENST00000523983.2	.	8p11.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.991,D	1.0,D	1,D	.	1.665,L	.	5.0493	0.892	0.814	2.892529,21.8	2.53	AC=1;AN=2;BQB=0.622828;DP4=8,7,3,3;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.230693;SF=20;SGB=-0.616816;VDB=0.218338	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:6:144,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	8	41552828	rs139623406	C	T	222	PASS	ANK1	ankyrin 1, erythrocytic	exonic	NM_000037,NM_001142446,NM_020475,NM_020476,NM_020477	.	synonymous SNV	ANK1:NM_000037:exon27:c.G2982A:p.P994P,ANK1:NM_020475:exon27:c.G2982A:p.P994P,ANK1:NM_020476:exon27:c.G2982A:p.P994P,ANK1:NM_020477:exon27:c.G2982A:p.P994P,ANK1:NM_001142446:exon28:c.G3105A:p.P1035P	ENST00000396942.1,ENST00000347528.4,ENST00000379758.2,ENST00000352337.4,ENST00000396945.1,ENST00000289734.7,ENST00000265709.8	.	8p11.21	.	.	Score=957;Name=V$NFKAPPAB65_01	.	.	rs139623406	.	.	0.00166113	0.002	0.000399361	7.7e-05	0.0002	0.0017	0.00166113	0.00240384754808	.	.	.	1,D	.	.	.	0.8912	-0.099	-0.257	2.061852,16.61	.	AC=1;AN=2;BQB=0.553097;DP4=13,8,5,11;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.745498;SF=20;SGB=-0.689466;VDB=0.154047	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:16:255,0,255	.	.	.	.	C	T	0	1	Spherocytosis, type 1, 182900 (3)	.	.	.	20339087|17327413|16037067|11527968|11167760|11102985|9590147|9430667|8640229|7883994|2675425|2139228|2137557|1716634|1689849|1486040	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CELL_POLARITY;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	MOLECULAR_ADAPTOR_ACTIVITY;STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;ENZYME_BINDING	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS	
H	8	42176788	.	G	A	37.38	PASS	IKBKB	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	exonic	NM_001190720,NM_001242778,NM_001556	.	missense SNV	IKBKB:NM_001190720:exon13:c.G1359A:p.M453I,IKBKB:NM_001242778:exon13:c.G1188A:p.M396I,IKBKB:NM_001556:exon14:c.G1365A:p.M455I	ENST00000416505.2,ENST00000379708.3,ENST00000520810.1,ENST00000522785.1,ENST00000520835.1,ENST00000522147.1	.	8p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098,T	0.133,B	0.31,B	1,D	0.000000,D	1.175,L	-0.81,T	19.6311	2.740	3.552	2.763105,21.2	5.79	AC=1;AN=2;BQB=0.6;DP4=5,0,2,0;DP=9;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0;SF=20;SGB=-0.453602;VDB=0.1	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:2:71,0,135	.	.	.	.	G	A	0	1	Immunodeficiency 15, 615592 (3)	.	.	.	25216719|24833394|24369075|24078701|23636330|21423167|18432192|17803913|17525799|17322906|17116858|17080195|16818229|16497931|15685173|15685170|15479644|15294155|15148408|15084260|14983030|12075355|11741536|11533494|10968790|10638762|10485710|10195897|10195894|9878263|9817203|9813230|9763654|9346485|9346484|9346241|9252186	REGULATION_OF_DNA_BINDING;REGULATION_OF_MOLECULAR_FUNCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BINDING;ACTIVATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR;REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_DNA_BINDING;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_BINDING	.	IDENTICAL_PROTEIN_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_APOPTOSIS;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_NOD_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY;KEGG_T_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER;KEGG_PROSTATE_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_SMALL_CELL_LUNG_CANCER	PID_FCER1PATHWAY;PID_BCR_5PATHWAY;PID_GMCSF_PATHWAY;PID_NFKAPPABATYPICALPATHWAY;PID_TCR_PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_TRAIL_PATHWAY;PID_CD8TCRPATHWAY;PID_FASPATHWAY;PID_IL1PATHWAY;PID_MTOR_4PATHWAY;PID_TNFPATHWAY;PID_FOXOPATHWAY;PID_P75NTRPATHWAY;PID_TAP63PATHWAY;PID_TOLL_ENDOGENOUS_PATHWAY	BIOCARTA_RELA_PATHWAY;BIOCARTA_AKT_PATHWAY;BIOCARTA_CD40_PATHWAY;BIOCARTA_TID_PATHWAY;BIOCARTA_RACCYCD_PATHWAY;BIOCARTA_KERATINOCYTE_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_NTHI_PATHWAY;BIOCARTA_NFKB_PATHWAY;BIOCARTA_IL1R_PATHWAY;BIOCARTA_41BB_PATHWAY;BIOCARTA_STRESS_PATHWAY;BIOCARTA_TNFR2_PATHWAY;BIOCARTA_TOLL_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_RIP_MEDIATED_NFKB_ACTIVATION_VIA_DAI;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_TCR_SIGNALING;REACTOME_DOWNSTREAM_TCR_SIGNALING;REACTOME_P75NTR_RECRUITS_SIGNALLING_COMPLEXES;REACTOME_P75NTR_SIGNALS_VIA_NFKB;REACTOME_NFKB_IS_ACTIVATED_AND_SIGNALS_SURVIVAL;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_TAK1_ACTIVATES_NFKB_BY_PHOSPHORYLATION_AND_ACTIVATION_OF_IKKS_COMPLEX;REACTOME_SIGNALING_BY_ILS;REACTOME_IL1_SIGNALING;REACTOME_IRAK1_RECRUITS_IKK_COMPLEX;REACTOME_TRAF6_MEDIATED_NFKB_ACTIVATION;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_ACTIVATION_THROUGH_FADD_RIP1_PATHWAY_MEDIATED_BY_CASPASE_8_AND10;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_IKK_COMPLEX_RECRUITMENT_MEDIATED_BY_RIP1;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_NOD1_2_SIGNALING_PATHWAY;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_NUCLEOTIDE_BINDING_DOMAIN_LEUCINE_RICH_REPEAT_CONTAINING_RECEPTOR_NLR_SIGNALING_PATHWAYS	PM2
H	8	42213024	.	T	G	222	PASS	POLB	polymerase (DNA directed), beta	splicing	NM_002690	NM_002690:exon7:c.371-10T>G	.	.	ENST00000538005.1,ENST00000265421.4	.	8p11.21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513	0.112	1.762320,14.77	2.69	AC=1;AN=2;BQB=0.999803;DP4=8,6,12,5;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.623201;SF=20;SGB=-0.690438;VDB=0.0658089	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:17:255,0,255	.	.	.	.	T	G	0	1	Polymerase (DNA directed), beta	.	.	.	16600869|11467963|10866204|10449735|9294209|8550496|8168825|7914364|7545922|3467369|3378450|1973375	DNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;DNA_REPLICATION;DNA_DEPENDENT_DNA_REPLICATION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;SPINDLE_MICROTUBULE;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	MICROTUBULE_BINDING;NUCLEOTIDYLTRANSFERASE_ACTIVITY;DNA_POLYMERASE_ACTIVITY;DNA_DIRECTED_DNA_POLYMERASE_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_BASE_EXCISION_REPAIR	.	.	REACTOME_BASE_EXCISION_REPAIR;REACTOME_RESOLUTION_OF_AP_SITES_VIA_THE_MULTIPLE_NUCLEOTIDE_PATCH_REPLACEMENT_PATHWAY;REACTOME_BASE_FREE_SUGAR_PHOSPHATE_REMOVAL_VIA_THE_SINGLE_NUCLEOTIDE_REPLACEMENT_PATHWAY;REACTOME_DNA_REPAIR;REACTOME_RESOLUTION_OF_AP_SITES_VIA_THE_SINGLE_NUCLEOTIDE_REPLACEMENT_PATHWAY	PM2
H	8	67066511	rs150677263	C	T	222	PASS	TRIM55	tripartite motif containing 55	exonic	NM_033058,NM_184085	.	missense SNV	TRIM55:NM_033058:exon9:c.C1466T:p.A489V,TRIM55:NM_184085:exon9:c.C1466T:p.A489V	ENST00000276573.7,ENST00000315962.4,ENST00000350034.4,ENST00000353317.5	.	8q13.1	.	.	.	.	.	rs150677263	.	.	0	0.001	0.000199681	0.0002	0.0003	0.0028	0.00710227	.	0.235,T	0.005,B	0.013,B	1,N	0.078534,N	1.79,L	1.67,T	10.3311	2.801	3.780	1.949508,15.89	5.89	AC=1;AN=2;BQB=0.959963;DP4=9,15,7,15;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.221143;SF=20;SGB=-0.692562;VDB=0.01446	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:22:255,0,255	.	.	.	.	C	T	0	1	Tripartite motif containing 55	.	.	.	11243782	.	.	.	.	.	.	.	
H	8	81399188	.	C	T	154	PASS	ZBTB10	zinc finger and BTB domain containing 10	exonic	NM_001105539,NM_023929	.	missense SNV	ZBTB10:NM_001105539:exon1:c.C143T:p.P48L,ZBTB10:NM_023929:exon1:c.C143T:p.P48L	ENST00000379091.4,ENST00000426744.2,ENST00000430430.1,ENST00000455036.3	CpG: 107	8q21.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006,D	0.014,B	0.077,B	1,D	.	0,N	3.03,T	8.0042	0.118	0.091	2.994463,22.2	.	AC=1;AN=2;BQB=0.408591;DP4=10,0,9,2;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.164074;SF=20;SGB=-0.676189;VDB=0.0209956	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:11:187,0,186	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	8	94800170	rs114655330	C	A	222	PASS	TMEM67	transmembrane protein 67	exonic	NM_001142301,NM_153704	.	missense SNV	TMEM67:NM_153704:exon14:c.C1511A:p.S504Y,TMEM67:NM_001142301:exon15:c.C1268A:p.S423Y	ENST00000453321.3,ENST00000409623.3	.	8q22.1	.	.	.	.	.	rs114655330	.	.	0.00498339	0.005	0.000998403	.	0.0002	0.0031	0.00306278528331	0.00480769432692	0.006,D	0.446,B	0.825,P	0.964925,D	0.019312,N	2.32,M	-4.1,D	2.4002	0.815	1.381	1.665257,14.21	4.12	AC=1;AN=2;BQB=0.918828;DP4=5,7,6,8;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.960777;SF=20;SGB=-0.686358;VDB=0.0077038	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:14:255,0,255	.	.	.	.	C	A	0	1	Meckel syndrome 3, 607361 (3); Joubert syndrome 6, 610688 (3); {Bardet-Biedl syndrome 14, modifier of}, 615991 (3); COACH syndrome, 216360 (3); Nephronophthisis 11, 613550 (3)	.	.	.	23283079|22121117|21725307|21633164|21422230|19574260|19515853|19508969|18327255|17377820|17185389|17160906|16541367|16415887|8862632|2929661	.	.	.	.	.	.	.	
L	8	95143171	rs187981885	C	T	197	PASS	CDH17	cadherin 17, LI cadherin (liver-intestine)	exonic	NM_001144663,NM_004063	.	synonymous SNV	CDH17:NM_001144663:exon16:c.G2217A:p.E739E,CDH17:NM_004063:exon16:c.G2217A:p.E739E	ENST00000027335.3,ENST00000450165.2,ENST00000441892.2	.	8q22.1	.	.	.	.	.	rs187981885	.	.	0.00332226	0.002	0.000399361	.	4.95e-05	0.0005	0.00332226	0.00332226	.	.	.	.	.	.	.	.	0.080	0.357	.	.	AC=2;AN=4;BQB=0.997773;DP4=21,8,11,5;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991121;SF=20,24;SGB=-0.662043;VDB=0.671615	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:247,0,255	.	.	.	0/1:23:7:214,0,255	C	T	0	2	Cadherin-17, liver-intestine	.	.	.	10191097|9615235|8153632	.	.	.	.	.	.	.	
L	8	95272605	rs2170363	G	A	218.62	PASS	GEM	GTP binding protein overexpressed in skeletal muscle	exonic	NM_005261,NM_181702	.	missense SNV	GEM:NM_005261:exon2:c.C127T:p.R43C,GEM:NM_181702:exon2:c.C127T:p.R43C	ENST00000396194.2,ENST00000297596.2	.	8q22.1	.	.	.	.	.	rs2170363	.	.	0.00996678	0.0079	0.0369409	.	0.0112	0.0093	0.00996678	0.00961538588942	0.014,D	0.038,B	0.261,B	0.997987,N	0.441589,N	1.795,L	-0.15,T	18.9302	2.469	7.431	2.325819,18.34	5.28	AC=1,8;AN=16;BQB=0.471449;DP4=87,37,88,58;DP=347;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.173824;SF=0,2,8,10,18,19,20,24;SGB=-0.693127;VDB=0.522634	GT:DP:DV:PL	1/2:33:33:255,255,255,255,0,255	.	0/2:30:16:255,.,.,0,.,255	.	.	.	.	.	0/2:31:20:255,.,.,0,.,250	.	0/2:42:17:255,.,.,0,.,255	.	.	.	.	.	.	.	0/2:31:15:255,.,.,0,.,255	0/2:32:13:255,.,.,0,.,255	0/2:28:14:255,.,.,0,.,255	.	.	.	0/2:43:18:255,.,.,0,.,255	G	A,C	0	8	GTP-binding protein overexpressed in skeletal muscle	.	.	.	11483511|11395774|8825643|7912851	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	.	GTP_BINDING;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;GUANYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING	.	.	.	.	
M	8	103573033	rs62523272	A	G	126.36	PASS	ODF1	outer dense fiber of sperm tails 1	exonic	NM_024410	.	missense SNV	ODF1:NM_024410:exon2:c.A674G:p.N225S	ENST00000285402.3,ENST00000518835.1	.	8q22.3	.	.	.	.	.	rs62523272	.	.	.	.	.	.	3.401e-05	0	0.0113636	.	0.432,T	0.0,B	0.0,B	1,N	0.136697,N	0.975,L	-1.94,D	6.4233	-0.321	0.064	.	.	AC=17;AN=28;BQB=0.024587;DP4=329,185,74,106;DP=929;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1.13275e-05;SF=2,3,4,5,6,8,10,11,12,13,14,15,20,21;SGB=-0.691153;VDB=4.90878e-09	GT:DP:DV:PL	.	.	1/1:18:18:255,54,0	0/1:52:11:126,0,255	0/1:57:10:141,0,255	0/1:86:14:117,0,255	0/1:42:9:121,0,255	.	1/1:15:15:255,45,0	.	1/1:20:20:255,60,0	0/1:54:13:176,0,255	0/1:39:10:158,0,255	0/1:64:11:110,0,255	0/1:47:12:161,0,255	0/1:47:9:103,0,255	.	.	.	.	0/1:55:11:157,0,255	0/1:98:17:106,0,255	.	.	.	A	G	3	11	Outer dense fiber of sperm tails 1	.	.	.	9337410|9045620|8949892|8305202|8179907|7789171|1936558|1699827	.	.	.	.	.	.	.	PM2
H	8	104427522	rs558065658	G	A	222	PASS	DCAF13	DDB1 and CUL4 associated factor 13	exonic	NM_015420	.	missense SNV	DCAF13:NM_015420:exon1:c.G304A:p.A102T	ENST00000297579.5	CpG: 98	8q22.3	.	.	.	.	.	rs558065658	.	.	0.00996678	0.0079	0.00159744	.	0.0003	0.0038	0.00612557595712	0.00996678	0.046,D	.	.	1,N	0.889238,N	.	-1.03,T	6.9561	0.012	0.014	1.179762,11.64	.	AC=1;AN=2;BQB=0.122715;DP4=35,15,32,20;DP=144;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.391812;SF=20;SGB=-0.693147;VDB=0.0249014	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:52:255,0,255	.	.	.	.	G	A	0	1	DDB1- and CUL4-associated factor 13	.	.	.	24754225	.	.	.	.	.	.	.	
H	8	105025746	rs576037956	A	G	222	PASS	RIMS2	regulating synaptic membrane exocytosis 2	exonic	NM_001100117,NM_001282881,NM_014677	.	missense SNV	RIMS2:NM_001282881:exon15:c.A2638G:p.T880A,RIMS2:NM_014677:exon16:c.A2563G:p.T855A,RIMS2:NM_001100117:exon18:c.A3121G:p.T1041A	ENST00000262231.10,ENST00000507740.1,ENST00000436393.2,ENST00000406091.3	.	8q22.3	.	.	Score=962;Name=V$PAX4_03	.	.	rs576037956	.	.	0.00498339	0.005	0.000998403	.	0.0001	0.0019	0.00498339	0.00721154540865	0.211,T	0.02,B	0.041,B	1,D	.	1.1,L	2.3,T	5.2656	-0.405	1.133	.	.	AC=1;AN=2;BQB=0.960687;DP4=7,8,13,4;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.719219;SF=20;SGB=-0.690438;VDB=0.207947	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:17:255,0,255	.	.	.	.	A	G	0	1	Regulating synaptic membrane exocytosis-2	.	.	.	12620390|10748113|9872452	.	.	.	.	.	.	.	
M	8	110463284	rs78213464	G	A	221	PASS	PKHD1L1	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	exonic	NM_177531	.	missense SNV	PKHD1L1:NM_177531:exon41:c.G6256A:p.A2086T	ENST00000378402.5	.	8q23.1	.	.	.	.	.	rs78213464	.	.	0.0232558	0.0258	0.00519169	.	0.0006	0.0069	0.0130168369372	0.0180288371394	0.684,T	0.0,B	0.0,B	1,N	0.607443,N	-1.735,N	-1.99,D	4.1808	-1.486	0.068	.	.	AC=1;AN=2;BQB=0.572869;DP4=8,0,15,3;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.442039;SF=20;SGB=-0.691153;VDB=0.0713685	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:18:255,0,137	.	.	.	.	G	A	0	1	PKHD1-like 1	.	.	.	12620974	.	.	.	.	.	.	.	
H	8	110463357	rs202241413	C	T	222	PASS	PKHD1L1	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	exonic	NM_177531	.	missense SNV	PKHD1L1:NM_177531:exon41:c.C6329T:p.T2110I	ENST00000378402.5	.	8q23.1	.	.	.	.	.	rs202241413	.	.	0.00166113	0.003	0.000599042	.	9.995e-05	0.0012	0.00166113	0.00166113	0.02,D	0.307,B	0.456,P	0.527086,D	0.000242,D	2.9,M	-1.73,D	9.763	1.366	2.556	5.272617,25.7	3.52	AC=1;AN=2;BQB=0.997554;DP4=10,10,12,2;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.837831;SF=20;SGB=-0.686358;VDB=0.626267	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:14:255,0,255	.	.	.	.	C	T	0	1	PKHD1-like 1	.	.	.	12620974	.	.	.	.	.	.	.	PP3
L	8	132051983	rs568398874	T	G	222	PASS	ADCY8	adenylate cyclase 8 (brain)	exonic	NM_001115	.	synonymous SNV	ADCY8:NM_001115:exon1:c.A597C:p.L199L	ENST00000286355.5,ENST00000377928.3	.	8q24.22	.	.	.	.	.	rs568398874	.	.	0.00332226	0.004	0.000798722	.	0.0002	0.0028	0.0030627880245	0.00332226	.	.	.	.	.	.	.	.	-3.064	-0.635	.	.	AC=1;AN=2;BQB=0.797045;DP4=26,9,22,16;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.135713;SF=20;SGB=-0.693143;VDB=0.040289	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:38:255,0,255	.	.	.	.	T	G	0	1	Adenylyl cyclase-8, brain	.	.	.	16613843|16537520|12503609|12441059|10075700|8076676|1715695|1427768	BEHAVIOR;LEARNING_AND_OR_MEMORY	MEMBRANE;CELL_FRACTION;MEMBRANE_FRACTION;PLASMA_MEMBRANE	PHOSPHORUS_OXYGEN_LYASE_ACTIVITY;LYASE_ACTIVITY;CYCLASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_TASTE_TRANSDUCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_MELANOGENESIS;KEGG_DILATED_CARDIOMYOPATHY	PID_ENDOTHELINPATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_LPA4_PATHWAY	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REACTOME_ADENYLATE_CYCLASE_INHIBITORY_PATHWAY;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_PKA_MEDIATED_PHOSPHORYLATION_OF_CREB;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_REGULATION_OF_INSULIN_SECRETION_BY_GLUCAGON_LIKE_PEPTIDE1;REACTOME_REGULATION_OF_INSULIN_SECRETION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_SIGNALING_BY_FGFR	
L	8	135602590	rs3739424	C	T	81	PASS	ZFAT	zinc finger and AT hook domain containing	exonic	NM_001029939,NM_001167583,NM_001174157,NM_001174158,NM_001289394,NM_020863	.	synonymous SNV	ZFAT:NM_001174157:exon7:c.G2298A:p.R766R,ZFAT:NM_001167583:exon8:c.G2448A:p.R816R,ZFAT:NM_001174158:exon8:c.G2448A:p.R816R,ZFAT:NM_020863:exon8:c.G2484A:p.R828R,ZFAT:NM_001029939:exon9:c.G2448A:p.R816R,ZFAT:NM_001289394:exon9:c.G2448A:p.R816R	ENST00000520214.1,ENST00000520356.1,ENST00000520727.1,ENST00000517307.1,ENST00000429442.2,ENST00000523399.1,ENST00000377838.3	.	8q24.22	.	.	Score=783;Name=V$MEF2_01	.	.	rs3739424	.	.	0.0232558	0.0238	0.00499201	.	0.0015	0.0202	0.01914241317	0.0180288371394	.	.	.	.	.	.	.	.	2.257	2.997	1.727764,14.57	4.85	AC=1;AN=2;BQB=0.391062;DP4=11,1,2,3;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.33659;SF=20;SGB=-0.590765;VDB=0.877481	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:5:115,0,255	.	.	.	.	C	T	0	1	{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)	.	.	.	20660741|15294872|11440990	.	.	.	.	.	.	.	
H	8	140744217	.	C	T	220	PASS	TRAPPC9	trafficking protein particle complex 9	splicing	NM_001160372,NM_031466	NM_001160372:exon22:c.3279+5G>A;NM_031466:exon22:c.3573+5G>A	.	.	ENST00000522504.1,ENST00000389327.3,ENST00000389328.4,ENST00000438773.2	CpG: 28	8q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.848	6.691	1.617797,13.95	3.34	AC=1;AN=2;BQB=0.738577;DP4=9,6,10,1;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994627;SF=20;SGB=-0.676189;VDB=0.139293	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:11:253,0,255	.	.	.	.	C	T	0	1	Mental retardation, autosomal recessive 13, 613192 (3)	.	.	.	22549410|21629298|20004765|20004764|20004763|17120046|15951441|11572484	.	.	.	.	.	.	.	PM2
L	8	141678398	rs55965948	G	A	222	PASS	PTK2	protein tyrosine kinase 2	exonic	NM_001199649,NM_001316342,NM_005607,NM_153831	.	synonymous SNV	PTK2:NM_005607:exon30:c.C2901T:p.A967A,PTK2:NM_153831:exon30:c.C2835T:p.A945A,PTK2:NM_001199649:exon31:c.C2874T:p.A958A,PTK2:NM_001316342:exon31:c.C2544T:p.A848A	ENST00000519419.1,ENST00000340930.3,ENST00000517712.1,ENST00000521059.1,ENST00000535192.1,ENST00000538769.1,ENST00000430260.2,ENST00000522684.1,ENST00000517887.1,ENST00000519465.1,ENST00000395218.2	.	8q24.3	.	.	.	.	.	rs55965948	.	.	0.0116279	0.0129	0.00259585	7.7e-05	0.0008	0.0096	0.00918835672282	0.0120192317308	.	.	.	1,D	.	.	.	1.4785	0.027	-1.405	1.216652,11.83	.	AC=1;AN=2;BQB=0.957852;DP4=14,5,17,7;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.930675;SF=20;SGB=-0.692831;VDB=0.106137	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:24:255,0,255	.	.	.	.	G	A	0	1	PTK2 protein tyrosine kinase	.	.	.	25079333|21669400|21107430|18448675|16374517|15601818|15494734|15494733|15494732|14642275|12941275|12805241|12615911|8422239|7766995|7566154|7479864|1594631	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PROTEIN_DOMAIN_SPECIFIC_BINDING;SH2_DOMAIN_BINDING	KEGG_ERBB_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_AXON_GUIDANCE;KEGG_VEGF_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_FCER1PATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_MET_PATHWAY;PID_EPHBFWDPATHWAY;PID_NECTIN_PATHWAY;PID_RET_PATHWAY;PID_ANGIOPOIETINRECEPTOR_PATHWAY;PID_NETRIN_PATHWAY;PID_CXCR4_PATHWAY;PID_IGF1_PATHWAY;PID_ERBB1_RECEPTOR_PROXIMAL_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_ERBB1_INTERNALIZATION_PATHWAY;PID_CASPASE_PATHWAY;PID_VEGFR1_2_PATHWAY;PID_EPHA2_FWDPATHWAY;PID_INTEGRIN_A4B1_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_AGR_PATHWAY;BIOCARTA_AT1R_PATHWAY;BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_SPPA_PATHWAY;BIOCARTA_CCR3_PATHWAY;BIOCARTA_CELL2CELL_PATHWAY;BIOCARTA_CXCR4_PATHWAY;BIOCARTA_ECM_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY;BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_EDG1_PATHWAY;BIOCARTA_PTEN_PATHWAY;BIOCARTA_ACH_PATHWAY;BIOCARTA_MET_PATHWAY;BIOCARTA_TFF_PATHWAY;BIOCARTA_UCALPAIN_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_P130CAS_LINKAGE_TO_MAPK_SIGNALING_FOR_INTEGRINS;REACTOME_GRB2_SOS_PROVIDES_LINKAGE_TO_MAPK_SIGNALING_FOR_INTERGRINS_;REACTOME_INTEGRIN_ALPHAIIB_BETA3_SIGNALING;REACTOME_AXON_GUIDANCE;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_APOPTOSIS;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_APOPTOTIC_EXECUTION_PHASE	
H	8	144644919	rs200540390	G	A	222	PASS	GSDMD	gasdermin D	exonic	NM_001166237,NM_024736	.	missense SNV	GSDMD:NM_024736:exon11:c.G1300A:p.E434K,GSDMD:NM_001166237:exon14:c.G1300A:p.E434K	ENST00000533063.1,ENST00000262580.4,ENST00000526406.1	.	8q24.3	.	.	.	.	.	rs200540390	.	.	0.0116279	0.0139	0.00279553	.	0.0015	0.0245	0.010719750781	0.0120192317308	0.012,D	0.226,B	0.876,P	1,N	0.807795,N	1.095,L	1.76,T	1.8612	-1.771	-0.784	.	.	AC=1;AN=2;BQB=0.974856;DP4=20,21,17,21;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994707;SF=20;SGB=-0.693143;VDB=0.170066	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:38:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	8	144732181	rs150886774	G	A	222	PASS	ZNF623	zinc finger protein 623	exonic	NM_001082480,NM_001261843,NM_014789	.	missense SNV	ZNF623:NM_014789:exon1:c.G139A:p.E47K,ZNF623:NM_001082480:exon2:c.G19A:p.E7K,ZNF623:NM_001261843:exon2:c.G19A:p.E7K	ENST00000501748.2,ENST00000526926.1,ENST00000458270.2	.	8q24.3	.	.	.	.	.	rs150886774	.	.	0.00996678	0.0139	0.00299521	.	0.0008	0.0102	0.0107197365697	0.0120192314423	0.078,T	0.003,B	0.052,B	1,N	.	1.04,L	3.29,T	5.5708	0.497	1.725	0.953532,10.39	.	AC=4;AN=8;BQB=0.629342;DP4=92,35,82,36;DP=327;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.976097;SF=6,19,20,23;SGB=-0.69312;VDB=0.487154	GT:DP:DV:PL	.	.	.	.	.	.	0/1:63:32:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:30:255,0,255	0/1:60:26:255,0,255	.	.	0/1:62:30:255,0,255	.	G	A	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	8	144803785	rs35986760	T	C	222	PASS	MAPK15	mitogen-activated protein kinase 15	exonic	NM_139021	.	missense SNV	MAPK15:NM_139021:exon12:c.T1271C:p.L424P	ENST00000338033.4	.	8q24.3	.	.	.	.	.	rs35986760	.	.	0.0249169	0.0308	0.0201677	0.0135	0.0229	0.0287	0.0283307609495	0.0264422810096	0.207,T	0.0,B	0.0,B	0.999999,N	0.792726,N	-1.105,N	-0.69,T	4.1892	-0.005	1.054	.	.	AC=2;AN=4;BQB=0.654464;DP4=103,47,74,57;DP=400;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.77971;SF=11,20;SGB=-0.693147;VDB=0.252985	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:125:58:255,0,255	.	.	.	.	.	.	.	.	0/1:156:73:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		PROTEIN_AUTOPROCESSING;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	MAP_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
L	8	144942787	rs185538739	G	A	222	PASS	EPPK1	epiplakin 1	exonic	NM_031308	.	synonymous SNV	EPPK1:NM_031308:exon2:c.C4635T:p.D1545D	ENST00000525985.1	.	8q24.3	.	.	.	.	.	rs185538739	.	.	0.00498339	0.0069	0.00159744	7.9e-05	0.0010	0.0143	0.00612557339969	0.00721154540865	.	.	.	.	.	.	.	.	-2.142	-3.066	.	.	AC=2;AN=4;BQB=0.361758;DP4=34,21,49,13;DP=151;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982198;SF=1,20;SGB=-0.69311;VDB=0.93547	GT:DP:DV:PL	.	0/1:53:31:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:31:255,0,255	.	.	.	.	G	A	0	2	Epiplakin 1	.	.	.	11278896	.	.	.	.	.	.	.	
M	8	145154099	rs35844464	G	C	222	PASS	SHARPIN	SHANK-associated RH domain interactor	exonic	NM_030974	.	missense SNV	SHARPIN:NM_030974:exon7:c.C932G:p.P311R	ENST00000398712.2	.	8q24.3	.	.	.	.	.	rs35844464	.	.	0.0199336	0.0159	0.00359425	.	0.0023	0.0239	0.0260337114855	0.0204327165865	0.832,T	0.0,B	0.0,B	1,N	0.518155,N	-0.895,N	0.93,T	5.8889	0.108	-0.781	.	.	AC=5;AN=10;BQB=0.990027;DP4=134,52,105,59;DP=466;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.83186;SF=2,6,13,20,23;SGB=-0.692914;VDB=0.0230553	GT:DP:DV:PL	.	.	0/1:65:25:255,0,255	.	.	.	0/1:60:32:255,0,255	.	.	.	.	.	.	0/1:86:39:255,0,255	.	.	.	.	.	.	0/1:77:40:255,0,255	.	.	0/1:62:28:255,0,255	.	G	C	0	5	SHANK-associated RH domain interactor	.	.	.	21455181|21455180|21455173|17538631|12753155|11178875	.	.	.	.	.	.	.	
L	8	145165287	rs539883762	C	G	222	PASS	WDR97	.	exonic	NM_001316309	.	synonymous SNV	WDR97:NM_001316309:exon7:c.C1887G:p.A629A	ENST00000533108.1,ENST00000323662.8	CpG: 216	8q24.3	.	.	.	.	.	rs539883762	.	.	0.00996678	0.006	0.00119808	.	0.0002	0.0099	0.00142045	0.00996678	.	.	.	.	.	.	.	.	-1.638	-8.296	1.047956,10.93	.	AC=1;AN=2;BQB=0.961285;DP4=38,24,24,16;DP=134;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.97768;MQSB=0.97768;RPB=0.332546;SF=20;SGB=-0.693145;VDB=0.859164	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:40:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	8	145641347	rs148918238	G	A	222	PASS	SLC39A4	solute carrier family 39 (zinc transporter), member 4	exonic	NM_017767,NM_130849	.	synonymous SNV	SLC39A4:NM_017767:exon1:c.C246T:p.P82P,SLC39A4:NM_130849:exon2:c.C321T:p.P107P	ENST00000276833.5,ENST00000301305.3	.	8q24.3	.	.	.	.	.	rs148918238	.	.	0.013289	0.0139	0.00279553	7.7e-05	0.0011	0.0118	0.0084226458193	0.0108172823317	.	.	.	.	.	.	.	.	-3.236	-4.258	.	.	AC=1;AN=2;BQB=0.823844;DP4=17,11,25,4;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.866777;SF=20;SGB=-0.693079;VDB=0.769261	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:29:255,0,255	.	.	.	.	G	A	0	1	Acrodermatitis enteropathica, 201100 (3)	.	.	.	19370757|18003899|17483098|16714095|14709598|12787121|12068297|12032886|11254458|11035780	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_ZINC_TRANSPORTERS;REACTOME_METAL_ION_SLC_TRANSPORTERS	
H	8	145736460	rs570033509	G	C	222	PASS	MFSD3	major facilitator superfamily domain containing 3	exonic	NM_138431	.	missense SNV	MFSD3:NM_138431:exon5:c.G1152C:p.L384F	ENST00000301327.4	.	8q24.3	.	.	.	.	.	rs570033509	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0021	0.00332226	0.00332226	0.178,T	0.142,B	0.578,P	0.986018,D	0.000546,D	1.72,L	-1.41,T	5.6814	-0.153	1.942	1.182772,11.66	.	AC=1;AN=2;BQB=0.861425;DP4=34,17,32,21;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.603729;SF=20;SGB=-0.693147;VDB=0.0147824	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:104:53:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	8	145739716	rs552226907	G	C	222	PASS	RECQL4	RecQ helicase-like 4	exonic	NM_004260	.	missense SNV	RECQL4:NM_004260:exon11:c.C1735G:p.L579V	ENST00000428558.2,ENST00000532237.1	.	8q24.3	.	.	.	.	.	rs552226907	.	.	0.00332226	0.002	0.000399361	.	2.703e-05	0.0004	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-0.006	3.552	.	.	AC=1;AN=2;BQB=0.962988;DP4=26,17,26,21;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997361;SF=20;SGB=-0.693147;VDB=0.603966	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:90:47:255,0,255	.	.	.	.	G	C	0	1	Rothmund-Thomson syndrome, 268400 (3); RAPADILINO syndrome, 266280 (3); Baller-Gerold syndrome, 218600 (3)	.	.	.	20503338|19567405|18716613|15964893|15703196|15317757|12952869|12915449|12838562|12734318|11257107|10678659|10319867|9878247	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_STRESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	DNA_HELICASE_ACTIVITY;HELICASE_ACTIVITY	.	.	.	.	
M	8	145772564	rs117351287	C	T	222	PASS	ARHGAP39	Rho GTPase activating protein 39	exonic	NM_001308207,NM_001308208,NM_025251	.	missense SNV	ARHGAP39:NM_025251:exon4:c.G1906A:p.V636I,ARHGAP39:NM_001308208:exon5:c.G1906A:p.V636I,ARHGAP39:NM_001308207:exon6:c.G1906A:p.V636I	ENST00000540274.1,ENST00000276826.5,ENST00000377307.2	.	8q24.3	.	.	.	.	.	rs117351287	.	.	0.0398671	0.0298	0.0061901	7.7e-05	0.0036	0.0416	0.0390505462481	0.0384615290865	0.448,T	0.004,B	0.002,B	1,N	0.530260,N	1.15,L	-0.16,T	10.0407	-0.717	0.112	.	.	AC=1;AN=2;BQB=0.748468;DP4=15,7,16,2;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.204854;SF=20;SGB=-0.691153;VDB=0.638457	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:18:255,0,255	.	.	.	.	C	T	0	1	RHO GTPase-activating protein 39	.	.	.	24656827|15342493|11214970	.	.	.	.	.	.	.	
L	9	117487	rs201596201	C	T	70.16	PASS	FOXD4	forkhead box D4	exonic	NM_207305	.	synonymous SNV	FOXD4:NM_207305:exon1:c.G633A:p.L211L	ENST00000382500.2	CpG: 124	9p24.3	.	.	Score=886;Name=V$E47_01	Score=0.987317;Name=chr2:114171009	.	rs201596201	.	.	.	.	.	.	0.0028	0.0097	.	0.0695652	.	.	.	.	.	.	.	.	0.272	0.225	.	.	AC=5;AN=10;BQB=0.247747;DP4=127,28,44,9;DP=264;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.000450202;MQSB=0.420523;RPB=0.961982;SF=8,9,15,20,21;SGB=-0.680642;VDB=0.345999	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:42:12:86,0,255	0/1:25:5:57,0,255	.	.	.	.	.	0/1:30:12:163,0,255	.	.	.	.	0/1:26:9:137,0,255	0/1:85:15:81,0,255	.	.	.	C	T	0	5	Forkhead box D4	.	.	.	12421752|12234674|8825632|7957066	.	.	SEQUENCE_SPECIFIC_DNA_BINDING;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	.	.	.	
L	9	6589221	rs377219563	C	T	155	PASS	GLDC	glycine dehydrogenase (decarboxylating)	exonic	NM_000170	.	synonymous SNV	GLDC:NM_000170:exon12:c.G1554A:p.P518P	ENST00000321612.6	.	9p24.1	.	.	Score=758;Name=V$PAX6_01	.	.	rs377219563	.	.	0	0.001	0.000399361	7.7e-05	9.886e-05	0	.	.	.	.	.	.	.	.	.	.	-1.733	-1.552	1.820709,15.11	.	AC=1;AN=2;BQB=0.778569;DP4=14,1,12,0;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999702;SF=20;SGB=-0.680642;VDB=0.652509	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:188,0,255	.	.	.	.	C	T	0	1	Glycine encephalopathy, 605899 (3)	.	.	.	25855294|16450403|15864413|15851735|15824356|15236413|11597772|11592811|11450847|11286506|10873393|10798358|7471513|2773994|2268343|2246863|1996985|1634607|1084115|445864	CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINO_ACID_CATABOLIC_PROCESS;AMINE_CATABOLIC_PROCESS;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CATABOLIC_PROCESS;NITROGEN_COMPOUND_CATABOLIC_PROCESS	.	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM	.	.	.	PM2
H	9	18928529	rs116325100	C	T	221	PASS	SAXO1	stabilizer of axonemal microtubules 1	exonic	NM_001287049,NM_153707	.	missense SNV	SAXO1:NM_001287049:exon4:c.G751A:p.G251S,SAXO1:NM_153707:exon4:c.G946A:p.G316S	ENST00000380534.4,ENST00000380530.1,ENST00000542071.1	.	9p22.1	.	.	.	.	.	rs116325100	.	.	.	.	.	.	8.253e-06	0	0.00142045	0.00434783	0.161,T	0.869,P	0.981,D	1,D	0.000018,D	2.48,M	1.76,T	17.2336	2.640	3.369	4.896516,24.9	5.09	AC=1;AN=2;BQB=0.345436;DP4=31,12,15,9;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.523539;SF=20;SGB=-0.692831;VDB=0.796171	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:24:255,0,255	.	.	.	.	C	T	0	1	Stabilizer of axonemal microtubules 1	.	.	.	25673876	.	.	.	.	.	.	.	
L	9	20346570	rs190517039	G	A	202	PASS	MLLT3	myeloid/lymphoid or mixed-lineage leukemia; translocated to, 3	exonic	NM_001286691,NM_004529	.	synonymous SNV	MLLT3:NM_001286691:exon11:c.C1569T:p.I523I,MLLT3:NM_004529:exon11:c.C1578T:p.I526I	ENST00000355930.6,ENST00000429426.2,ENST00000380321.1,ENST00000380338.4	.	9p21.3	.	.	.	.	.	rs190517039	.	.	0.0182724	0.0169	0.00339457	.	0.0012	0.0162	0.00995404704441	0.0168269108173	.	.	.	.	.	.	.	.	-0.666	-0.166	.	.	AC=1;AN=2;BQB=0.951033;DP4=3,8,4,6;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.530089;SF=20;SGB=-0.670168;VDB=0.0469926	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:10:235,0,255	.	.	.	.	G	A	0	1	Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3	.	.	.	16862118|16001262|10861294|8506309	.	NUCLEUS	.	.	.	.	.	
L	9	21206951	rs145687453	G	T	222	PASS	IFNA10	interferon, alpha 10	exonic	NM_002171	.	missense SNV	IFNA10:NM_002171:exon1:c.C146A:p.P49H	ENST00000357374.2	.	9p21.3	.	.	.	Score=0.942811;Name=chr9:21165785	.	rs145687453	.	.	0.00498339	0.0129	0.00259585	0.0002	0.0012	0.0142	0.00498339	0.0120192365144	0.015,D	0.139,B	0.2,B	1,N	0.011045,N	2.62,M	3.86,T	4.1356	0.145	-0.152	1.835364,15.20	.	AC=2;AN=4;BQB=0.973179;DP4=44,34,32,25;DP=186;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.997933;MQSB=0.922916;RPB=0.833732;SF=5,20;SGB=-0.692914;VDB=0.0377712	GT:DP:DV:PL	.	.	.	.	.	0/1:57:25:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:78:32:255,0,255	.	.	.	.	G	T	0	2	Interferon, alpha-10	.	.	.	1385305	.	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_REGULATION_OF_AUTOPHAGY;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_AUTOIMMUNE_THYROID_DISEASE	PID_CD8TCRDOWNSTREAMPATHWAY	.	REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_REGULATION_OF_IFNA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_HEMOSTASIS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM	
L	9	21368008	rs146195386	A	G	222	PASS	IFNA13	interferon, alpha 13	exonic	NM_006900	.	missense SNV	IFNA13:NM_006900:exon1:c.T2C:p.M1T	ENST00000449498.1	.	9p21.3	.	.	.	Score=0.915368;Name=chr9:21434864	.	rs146195386	.	.	.	.	.	.	0.0018	0.0060	0.00710227	0.00434783	0.0,D	0.0,B	0.0,B	1,N	.	.	4.18,T	3.544	-0.757	0.436	.	.	AC=1;AN=2;BQB=0.141925;DP4=33,27,32,14;DP=152;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=8.24752e-08;MQSB=0.738604;RPB=0.849809;SF=20;SGB=-0.693147;VDB=0.136442	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:106:46:255,0,255	.	.	.	.	A	G	0	1	Interferon, alpha-13	.	.	.	15233997|1385305	.	.	HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_BINDING;RECEPTOR_BINDING;CYTOKINE_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_REGULATION_OF_AUTOPHAGY;KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_RIG_I_LIKE_RECEPTOR_SIGNALING_PATHWAY;KEGG_CYTOSOLIC_DNA_SENSING_PATHWAY;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_AUTOIMMUNE_THYROID_DISEASE	.	.	.	
L	9	26892523	rs3739549	A	G	222	PASS	CAAP1	caspase activity and apoptosis inhibitor 1	exonic	NM_024828	.	missense SNV	CAAP1:NM_024828:exon1:c.T191C:p.V64A	ENST00000333916.5,ENST00000495958.1,ENST00000520187.1	CpG: 55	9p21.2	.	.	.	.	Score=252;Name="4803476:(CCG)n(Simple_repeat)"	rs3739549	.	.	0.0182724	0.0139	0.00299521	.	0.0010	0.0193	0.0199080949464	0.0144230597356	0.0,D	0.038,B	0.057,B	0.999718,N	0.079482,N	0.55,N	0.71,T	8.7871	0.255	0.878	3.322555,22.9	.	AC=1;AN=2;BQB=0.40082;DP4=14,5,16,2;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.831377;SF=20;SGB=-0.691153;VDB=0.821174	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:18:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	9	26907908	rs183609067	T	C	218	PASS	PLAA	phospholipase A2-activating protein	exonic	NM_001031689	.	synonymous SNV	PLAA:NM_001031689:exon13:c.A1746G:p.L582L	ENST00000520884.1,ENST00000397292.3	.	9p21.2	.	.	.	.	.	rs183609067	.	.	0.0182724	0.0139	0.00299521	.	0.0008	0.0103	0.0206738162328	0.0144230597356	.	.	.	1,D	.	.	.	2.6415	0.241	0.610	0.901055,10.08	.	AC=1;AN=2;BQB=0.60635;DP4=12,3,10,2;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.242449;SF=20;SGB=-0.680642;VDB=0.723817	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:251,0,255	.	.	.	.	T	C	0	1	Phospholipase A2-activating protein	.	.	.	9931468	MEMBRANE_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS	.	ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	.	
H	9	27556798	rs760753377	T	A	100	PASS	C9orf72	chromosome 9 open reading frame 72	splicing	NM_001256054,NM_018325	NM_001256054:exon8:c.856-4A>T;NM_018325:exon8:c.856-4A>T	.	.	ENST00000380003.3,ENST00000488117.1	.	9p21.2	.	.	Score=891;Name=V$TGIF_01	.	.	rs760753377	.	.	.	.	.	.	1.666e-05	0.0002	.	.	.	.	.	.	.	.	.	.	0.371	2.668	1.345487,12.50	3.15	AC=1;AN=2;BQB=0.720273;DP4=3,4,0,8;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.941512;SF=20;SGB=-0.651104;VDB=0.11874	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:8:133,0,192	.	.	.	.	T	A	0	1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)	.	.	.	25977373|25103406|25081482|24598541|24549040|23731538|23720273|23434116|23393093|23284068|23111906|22739338|22692064|21944779|21944778|21925771|21072532|20562461	.	.	.	.	.	.	.	
H	9	27949912	rs746507106	G	T	222	PASS	LINGO2	leucine rich repeat and Ig domain containing 2	exonic	NM_001258282,NM_152570	.	missense SNV	LINGO2:NM_001258282:exon7:c.C758A:p.S253Y,LINGO2:NM_152570:exon7:c.C758A:p.S253Y	ENST00000379992.2,ENST00000308675.3	.	9p21.2	.	.	.	.	.	rs746507106	.	.	.	.	.	.	8.238e-06	0	.	.	0.037,D	0.282,B	0.574,P	0.999138,D	0.000341,D	0.125,N	-1.35,T	12.6742	1.484	6.652	.	5.05	AC=1;AN=2;BQB=0.971324;DP4=22,10,21,4;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979998;SF=20;SGB=-0.692914;VDB=0.402104	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:25:255,0,255	.	.	.	.	G	T	0	1	Leucine-rich repeat protein, neuronal, 6C	.	.	.	14686891	.	.	.	.	.	.	.	PM2
L	9	33796660	rs760851289	T	C	94.11	PASS	PRSS3	protease, serine, 3	exonic	NM_001197097,NM_001197098,NM_002771,NM_007343	.	synonymous SNV	PRSS3:NM_001197098:exon2:c.T39C:p.D13D,PRSS3:NM_002771:exon2:c.T60C:p.D20D,PRSS3:NM_007343:exon2:c.T231C:p.D77D,PRSS3:NM_001197097:exon3:c.T102C:p.D34D	ENST00000361005.5,ENST00000429677.3,ENST00000454429.2,ENST00000342836.4,ENST00000379405.3	.	9p13.3	.	.	.	Score=0.954248;Name=chr9:33612452	.	rs760851289	.	.	.	.	.	.	0.0010	0.0014	.	.	.	.	.	.	.	.	.	.	-0.682	-0.180	.	.	AC=7;AN=14;BQB=0.820294;DP4=423,28,119,3;DP=775;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.143012;MQSB=0.977274;RPB=0.727728;SF=1,6,7,10,15,20,23;SGB=-0.670168;VDB=0.000178367	GT:DP:DV:PL	.	0/1:57:10:106,0,255	.	.	.	.	0/1:80:13:69,0,255	0/1:93:20:144,0,255	.	.	0/1:71:16:152,0,255	.	.	.	.	0/1:75:12:74,0,255	.	.	.	.	0/1:77:14:106,0,255	.	.	0/1:120:37:255,0,255	.	T	C	0	7	Protease, serine, 3	.	.	.	19920152|14507909|9099703|8650574|8294000|2326201	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;DIGESTION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;ENDOTHELIAL_CELL_MIGRATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CELL_MIGRATION	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;SERINE_TYPE_PEPTIDASE_ACTIVITY;CALCIUM_ION_BINDING;ION_BINDING;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	
L	9	33796672	rs77765166	T	C	90.93	PASS	PRSS3	protease, serine, 3	exonic	NM_001197097,NM_001197098,NM_002771,NM_007343	.	synonymous SNV	PRSS3:NM_001197098:exon2:c.T51C:p.I17I,PRSS3:NM_002771:exon2:c.T72C:p.I24I,PRSS3:NM_007343:exon2:c.T243C:p.I81I,PRSS3:NM_001197097:exon3:c.T114C:p.I38I	ENST00000361005.5,ENST00000429677.3,ENST00000454429.2,ENST00000342836.4,ENST00000379405.3	.	9p13.3	.	.	.	Score=0.954248;Name=chr9:33612452	.	rs77765166	.	.	.	.	.	.	0.0210	0.0080	.	.	.	.	.	.	.	.	.	.	-0.217	-0.606	.	.	AC=9;AN=18;BQB=0.457465;DP4=612,53,170,4;DP=1155;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0108556;MQSB=0.904837;RPB=0.879661;SF=1,3,5,6,7,10,15,20,23;SGB=-0.683931;VDB=0.00353346	GT:DP:DV:PL	.	0/1:69:13:119,0,255	.	0/1:74:14:70,0,255	.	0/1:112:15:62,0,255	0/1:88:14:78,0,255	0/1:104:26:158,0,255	.	.	0/1:80:18:182,0,255	.	.	.	.	0/1:89:14:86,0,255	.	.	.	.	0/1:85:16:128,0,255	.	.	0/1:138:44:255,0,255	.	T	C	0	9	Protease, serine, 3	.	.	.	19920152|14507909|9099703|8650574|8294000|2326201	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;DIGESTION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;ENDOTHELIAL_CELL_MIGRATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CELL_MIGRATION	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;SERINE_TYPE_PEPTIDASE_ACTIVITY;CALCIUM_ION_BINDING;ION_BINDING;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	
L	9	33796673	rs76740888	G	A	90.67	PASS	PRSS3	protease, serine, 3	exonic	NM_001197097,NM_001197098,NM_002771,NM_007343	.	missense SNV	PRSS3:NM_001197098:exon2:c.G52A:p.V18I,PRSS3:NM_002771:exon2:c.G73A:p.V25I,PRSS3:NM_007343:exon2:c.G244A:p.V82I,PRSS3:NM_001197097:exon3:c.G115A:p.V39I	ENST00000361005.5,ENST00000429677.3,ENST00000454429.2,ENST00000342836.4,ENST00000379405.3	.	9p13.3	.	.	.	Score=0.954248;Name=chr9:33612452	.	rs76740888	.	.	.	.	.	.	0.0199	0.0075	.	.	0.196,T	0.319,B	0.284,B	0.95645,D	0.000002,D	0.18,N	-2.54,D	6.4881	0.048	2.618	.	.	AC=8;AN=16;BQB=0.972103;DP4=534,46,153,3;DP=1000;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0105199;MQSB=0.925579;RPB=0.925322;SF=1,3,6,7,10,15,20,23;SGB=-0.683931;VDB=0.00353346	GT:DP:DV:PL	.	0/1:71:13:106,0,255	.	0/1:79:14:57,0,255	.	.	0/1:88:14:80,0,255	0/1:103:25:154,0,255	.	.	0/1:83:18:169,0,255	.	.	.	.	0/1:88:13:75,0,255	.	.	.	.	0/1:86:15:114,0,255	.	.	0/1:138:44:255,0,255	.	G	A	0	8	Protease, serine, 3	.	.	.	19920152|14507909|9099703|8650574|8294000|2326201	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;DIGESTION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;ENDOTHELIAL_CELL_MIGRATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CELL_MIGRATION	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CATION_BINDING;SERINE_TYPE_PEPTIDASE_ACTIVITY;CALCIUM_ION_BINDING;ION_BINDING;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	.	
L	9	33923919	rs761661680	T	C	222	PASS	UBAP2	ubiquitin associated protein 2	exonic	NM_001282529,NM_001282530,NM_018449	.	synonymous SNV	UBAP2:NM_001282530:exon8:c.A387G:p.Q129Q,UBAP2:NM_001282529:exon20:c.A1869G:p.Q623Q,UBAP2:NM_018449:exon24:c.A2670G:p.Q890Q	ENST00000379235.1,ENST00000539807.1,ENST00000449054.1,ENST00000360802.1,ENST00000379239.4,ENST00000379238.1	.	9p13.3	.	.	.	.	.	rs761661680	.	.	.	.	.	.	1.647e-05	0.0002	.	.	0.234,T	.	.	1,D	.	.	.	12.6897	-1.055	-0.343	.	.	AC=1;AN=2;BQB=0.20916;DP4=4,10,8,6;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.264394;SF=20;SGB=-0.686358;VDB=0.0156636	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	9	37762066	rs376110227	G	C	222	PASS	TRMT10B	tRNA methyltransferase 10 homolog B (S. cerevisiae)	exonic	NM_001286950,NM_001286952,NM_001286953,NM_144964	.	missense SNV	TRMT10B:NM_001286950:exon2:c.G138C:p.E46D,TRMT10B:NM_001286952:exon2:c.G138C:p.E46D,TRMT10B:NM_001286953:exon2:c.G50C:p.S17T,TRMT10B:NM_144964:exon2:c.G138C:p.E46D	ENST00000377753.2,ENST00000377754.2,ENST00000297994.3,ENST00000540557.1,ENST00000537911.1	.	9p13.2	.	.	.	.	.	rs376110227	.	.	0.0149502	0.0129	0.00279553	.	0.0004	0.0029	0.00765698101072	0.0149502	0.037,D	0.017,B	0.025,B	1,N	0.000934,N	1.285,L	1.41,T	5.295	0.266	0.210	0.989185,10.60	.	AC=1;AN=2;BQB=0.31028;DP4=7,7,7,12;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968015;SF=20;SGB=-0.69168;VDB=0.0784115	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:19:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	9	43885064	rs201256223	G	A	112	PASS	CNTNAP3B	contactin associated protein-like 3B	exonic	NM_001201380	.	missense SNV	CNTNAP3B:NM_001201380:exon15:c.G2357A:p.R786H	ENST00000377564.3	.	9p11.2	.	.	.	Score=0.993441;Name=chr9:65584332	.	rs201256223	.	.	0.0315615	0.0347	0.00778754	.	0.0033	0.0302	.	0.0264423413462	0.554,T	.	.	0.999809,N	.	0.72,N	2.26,T	4.6113	-0.875	0.276	.	.	AC=2;AN=2;BQB=1;DP4=0,1,2,3;DP=8;MQ0F=0;MQ=34;MQB=1;MQSB=0.5;RPB=1;SF=20;SGB=-0.590765;VDB=0.0366952	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:6:5:139,9,0	.	.	.	.	G	A	1	0	.	.	.	.		.	.	.	.	.	.	.	
H	9	71863009	.	C	T	222	PASS	TJP2	tight junction protein 2	exonic	NM_001170414,NM_001170415,NM_001170416,NM_001170630,NM_004817,NM_201629	.	missense SNV	TJP2:NM_001170415:exon19:c.C2761T:p.R921C,TJP2:NM_001170416:exon19:c.C2842T:p.R948C,TJP2:NM_001170630:exon19:c.C2749T:p.R917C,TJP2:NM_004817:exon19:c.C2749T:p.R917C,TJP2:NM_201629:exon19:c.C2749T:p.R917C,TJP2:NM_001170414:exon20:c.C2680T:p.R894C	ENST00000539225.1,ENST00000348208.4,ENST00000265384.7,ENST00000377245.4,ENST00000453658.2,ENST00000535702.1	CpG: 19	9q21.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.981,D	1.0,D	1,D	0.000028,D	2.67,M	2.17,T	20.8598	2.937	4.967	8.399924,35	6.16	AC=1;AN=2;BQB=0.786443;DP4=14,9,16,5;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.642953;SF=20;SGB=-0.692352;VDB=0.636236	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:21:255,0,255	.	.	.	.	C	T	0	1	Hypercholanemia, familial, 607748 (3); Cholestasis, progressive familial intrahepatic 4, 615878 (3)	.	.	.	24614073|20602916|18616530|18172007|12704386|12403786|11018256|10601346|8824195|7951235	.	.	PHOSPHOTRANSFERASE_ACTIVITY_PHOSPHATE_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;NUCLEOTIDE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_KINASE_ACTIVITY	KEGG_TIGHT_JUNCTION;KEGG_VIBRIO_CHOLERAE_INFECTION	PID_MYC_REPRESSPATHWAY	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_SIGNALING_BY_HIPPO;REACTOME_APOPTOTIC_CLEAVAGE_OF_CELL_ADHESION_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PM2,PP3
L	9	72131653	rs199557922	C	T	222	PASS	APBA1	amyloid beta (A4) precursor protein-binding, family A, member 1	exonic	NM_001163	.	synonymous SNV	APBA1:NM_001163:exon2:c.G474A:p.E158E	ENST00000265381.4	CpG: 114	9q21.11	.	.	.	.	.	rs199557922	.	.	0.00166113	0.001	0.000199681	.	0.0003	0.0022	0.001531391317	0.00360576894231	.	.	.	.	.	.	.	.	1.275	0.978	.	3.22	AC=2;AN=4;BQB=0.968596;DP4=50,39,61,23;DP=241;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.567973;SF=3,20;SGB=-0.693141;VDB=0.616928	GT:DP:DV:PL	.	.	.	0/1:85:37:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:47:255,0,255	.	.	.	.	C	T	0	2	Amyloid beta A4 precursor protein-binding, family A, member 1	.	.	.	20531236|10846156|9753324|9585438|9395480|8198128|7719031|7678331|7545337|2890057|2690102|1968060|1916823	SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;CELLULAR_COMPONENT_ASSEMBLY;SYNAPTIC_TRANSMISSION;MACROMOLECULE_LOCALIZATION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_TRANSPORT;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;PROTEIN_LOCALIZATION;MICROTUBULE_BASED_MOVEMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	COATED_VESICLE;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;SYNAPTIC_VESICLE;CYTOPLASMIC_VESICLE;CLATHRIN_COATED_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	.	.	.	.	.	
H	9	77418703	rs762137609	A	G	149	PASS	TRPM6	transient receptor potential cation channel, subfamily M, member 6	splicing	NM_001177310,NM_001177311,NM_017662	NM_001177310:exon15:c.1716+7T>C;NM_001177311:exon15:c.1716+7T>C;NM_017662:exon15:c.1731+7T>C	.	.	ENST00000360774.1,ENST00000361255.3,ENST00000451710.3,ENST00000376872.3,ENST00000449912.2,ENST00000376871.3,ENST00000376864.4	.	9q21.13	.	.	.	.	.	rs762137609	.	.	.	.	.	.	6.59e-05	0.0009	0.00284091	.	.	.	.	.	.	.	.	.	-1.740	-0.006	.	.	AC=1;AN=2;BQB=0.144386;DP4=6,1,7,1;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.351229;SF=20;SGB=-0.651104;VDB=0.55693	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:8:182,0,140	.	.	.	.	A	G	0	1	Hypomagnesemia 1, intestinal, 602014 (3)	.	.	.	23942199|21932052|19692351|14976260|12032570|12032568|9285786	.	.	.	.	.	.	.	
L	9	90534212	rs654472	A	G	151.65	PASS	SPATA31C1	SPATA31 subfamily C, member 1	exonic	NM_001145124	.	missense SNV	SPATA31C1:NM_001145124:exon2:c.A232G:p.T78A	ENST00000602681.1	.	9q22.1	.	.	.	Score=0.991167;Name=chr9:90725189	.	rs654472	.	.	.	.	.	.	0.0035	0.0484	0.0625	0.0565217	.	.	.	.	.	.	.	.	-2.643	-1.365	.	.	AC=6;AN=10;BQB=0.991328;DP4=151,162,141,64;DP=797;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=1.9181e-07;MQSB=0.608266;RPB=0.772448;SF=8,10,11,20,24;SGB=-0.693079;VDB=0.0520451	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:103:29:239,0,255	.	1/1:92:92:255,255,0	0/1:79:24:190,0,255	.	.	.	.	.	.	.	.	0/1:86:16:64,0,255	.	.	.	0/1:158:44:178,0,255	A	G	1	4	.	.	.	.		.	.	.	.	.	.	.	
L	9	95610283	rs10992490	C	T	153	PASS	ZNF484	zinc finger protein 484	exonic	NM_001007101,NM_001261458,NM_001261459,NM_001261460,NM_031486	.	synonymous SNV	ZNF484:NM_001007101:exon4:c.G678A:p.P226P,ZNF484:NM_001261458:exon4:c.G792A:p.P264P,ZNF484:NM_031486:exon5:c.G786A:p.P262P,ZNF484:NM_001261459:exon6:c.G678A:p.P226P,ZNF484:NM_001261460:exon6:c.G678A:p.P226P	ENST00000375495.3,ENST00000473204.1,ENST00000395505.2,ENST00000395506.3,ENST00000332591.6	.	9q22.31	.	.	.	.	.	rs10992490	.	.	0.0149502	0.0109	0.00219649	0.0002	0.0013	0.0151	0.0130168413476	0.0120192563702	.	.	.	.	.	.	.	.	-0.180	-2.283	1.381894,12.69	.	AC=1;AN=2;BQB=0.293091;DP4=11,3,7,0;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.328515;SF=20;SGB=-0.636426;VDB=0.659036	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:7:186,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	9	95846980	rs117068327	G	A	222	PASS	SUSD3	sushi domain containing 3	exonic	NM_001287005,NM_001287006,NM_001287007,NM_001287008,NM_145006	.	missense SNV	SUSD3:NM_001287007:exon3:c.G398A:p.G133E,SUSD3:NM_001287006:exon4:c.G587A:p.G196E,SUSD3:NM_001287008:exon4:c.G530A:p.G177E,SUSD3:NM_145006:exon5:c.G719A:p.G240E,SUSD3:NM_001287005:exon6:c.G680A:p.G227E	ENST00000375472.3,ENST00000375469.1	.	9q22.31	.	.	.	.	.	rs117068327	.	.	0.0182724	0.0109	0.00219649	.	0.0015	0.0199	0.0182724	0.0156249811298	0.049,D	0.021,B	0.046,B	1,N	0.681713,N	1.67,L	-0.09,T	5.3798	0.822	0.774	.	2.68	AC=1;AN=2;BQB=0.359983;DP4=8,12,8,24;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.10449;SF=20;SGB=-0.69312;VDB=0.0342431	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:32:255,0,255	.	.	.	.	G	A	0	1	SUSHI domain-containing protein 3	.	.	.		.	.	.	.	.	.	.	
L	9	96060243	rs754865802	G	A	222	PASS	WNK2	WNK lysine deficient protein kinase 2	exonic	NM_001282394,NM_006648	.	synonymous SNV	WNK2:NM_006648:exon23:c.G5817A:p.T1939T,WNK2:NM_001282394:exon24:c.G5928A:p.T1976T	ENST00000427277.2,ENST00000395477.2,ENST00000349097.3,ENST00000297954.4,ENST00000395475.2,ENST00000356055.3	.	9q22.31	.	.	Score=806;Name=V$RREB1_01	.	.	rs754865802	.	.	.	.	.	.	0	0	.	.	.	.	.	1,D	.	.	.	2.5967	-0.938	-3.807	1.382819,12.70	.	AC=1;AN=2;BQB=0.482759;DP4=9,14,19,8;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.517127;SF=20;SGB=-0.693021;VDB=0.0102119	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:27:255,0,255	.	.	.	.	G	A	0	1	WNK lysine deficient protein kinase 2	.	.	.	21733846|11280764|11214970|10828064	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	.	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	.	.	.	PM2
L	9	96415482	rs56134753	A	T	222	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon6:c.A624T:p.P208P	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	Score=957;Name=V$MYOD_Q6	.	.	rs56134753	.	.	0.0498339	0.0456	0.0203674	0.0131	0.0201	0.0488	0.0421133486983	0.0516826908654	.	.	.	.	.	.	.	.	-4.787	-1.992	.	.	AC=5;AN=10;BQB=0.972944;DP4=52,7,61,10;DP=190;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.60931;SF=0,7,14,19,20;SGB=-0.686358;VDB=0.0566342	GT:DP:DV:PL	0/1:24:14:255,0,222	.	.	.	.	.	.	0/1:25:11:255,0,255	.	.	.	.	.	.	0/1:21:12:255,0,239	.	.	.	.	0/1:26:16:255,0,207	0/1:34:18:255,0,255	.	.	.	.	A	T	0	5	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	
L	9	96438998	rs10821201	T	C	56.14	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon21:c.T2955C:p.S985S	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	Score=933;Name=V$ZIC2_01	.	Score=342;Name="4891577:(CCA)n(Simple_repeat)"	rs10821201	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-0.490	-0.078	.	.	AC=4;AN=8;BQB=0.811218;DP4=64,25,17,7;DP=155;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.000113799;SF=5,16,19,20;SGB=-0.651104;VDB=5.52933e-05	GT:DP:DV:PL	.	.	.	.	.	0/1:36:8:119,0,255	.	.	.	.	.	.	.	.	.	.	0/1:21:6:109,0,255	.	.	0/1:29:5:66,0,255	0/1:27:5:71,0,255	.	.	.	.	T	C	0	4	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	
L	9	96439004	rs75653373	C	A	90.17	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon21:c.C2961A:p.T987T	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	Score=933;Name=V$ZIC2_01	.	Score=342;Name="4891577:(CCA)n(Simple_repeat)"	rs75653373	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	0.154	-0.846	1.425889,12.92	.	AC=6;AN=12;BQB=0.46394;DP4=72,42,33,15;DP=267;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0183753;SF=1,5,16,19,20,21;SGB=-0.556411;VDB=0.0122353	GT:DP:DV:PL	.	0/1:24:4:66,0,255	.	.	.	0/1:24:12:228,0,239	.	.	.	.	.	.	.	.	.	.	0/1:16:8:158,0,215	.	.	0/1:26:7:84,0,255	0/1:19:7:120,0,245	0/1:53:10:92,0,255	.	.	.	C	A	0	6	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	
L	9	96439007	rs10992855	G	T	59.49	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon21:c.G2964T:p.P988P	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	.	.	Score=342;Name="4891577:(CCA)n(Simple_repeat)"	rs10992855	.	.	.	.	.	.	0.0036	0.0044	.	0.026087	.	.	.	.	.	.	.	.	-0.613	-1.902	.	.	AC=8;AN=16;BQB=0.607319;DP4=139,61,27,23;DP=326;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0557153;SF=0,1,5,16,18,20,21,22;SGB=-0.590765;VDB=0.0152419	GT:DP:DV:PL	0/1:27:5:71,0,255	0/1:27:5:59,0,255	.	.	.	0/1:37:6:79,0,255	.	.	.	.	.	.	.	.	.	.	0/1:23:7:129,0,237	.	0/1:29:6:71,0,255	.	0/1:27:6:107,0,255	0/1:62:9:97,0,255	0/1:18:6:145,0,255	.	.	G	T	0	8	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	
L	9	96439019	.	C	T	119.5	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon21:c.C2976T:p.T992T	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	.	.	Score=342;Name="4891577:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.561	-0.107	1.331986,12.43	.	AC=1,2;AN=6;BQB=0.996189;DP4=39,12,17,12;DP=105;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.57708;SF=0,16,20;SGB=-0.690438;VDB=0.967175	GT:DP:DV:PL	0/1:25:17:255,0,195,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:24:5:69,.,.,0,.,255	.	.	.	0/2:31:7:138,.,.,0,.,255	.	.	.	.	C	T,A	0	3	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	PM2
L	9	96439019	rs10992856	C	A	119.5	PASS	PHF2	PHD finger protein 2	exonic	NM_005392	.	synonymous SNV	PHF2:NM_005392:exon21:c.C2976A:p.T992T	ENST00000375376.4,ENST00000359246.4	.	9q22.31	.	.	.	.	Score=342;Name="4891577:(CCA)n(Simple_repeat)"	rs10992856	.	.	.	.	.	.	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	-1.561	-0.107	2.076438,16.70	.	AC=1,2;AN=6;BQB=0.996189;DP4=39,12,17,12;DP=105;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.57708;SF=0,16,20;SGB=-0.690438;VDB=0.967175	GT:DP:DV:PL	0/1:25:17:255,0,195,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:24:5:69,.,.,0,.,255	.	.	.	0/2:31:7:138,.,.,0,.,255	.	.	.	.	C	T,A	0	3	PHD finger protein-2	.	.	.	10051327|9734811	.	NUCLEUS	.	.	.	.	.	
L	9	97382707	rs201591116	G	A	222	PASS	FBP1	fructose-1,6-bisphosphatase 1	exonic	NM_000507,NM_001127628	.	synonymous SNV	FBP1:NM_000507:exon2:c.C237T:p.N79N,FBP1:NM_001127628:exon3:c.C237T:p.N79N	ENST00000415431.1,ENST00000375326.4	.	9q22.32	.	.	.	.	.	rs201591116	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000125095.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.00830565	0.0079	0.00199681	0.0002	0.0020	0.0045	0.00830565	0.00721154110577	.	.	.	.	.	.	.	.	-0.305	0.915	1.354481,12.55	.	AC=1;AN=2;BQB=0.991996;DP4=5,2,8,4;DP=25;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.699673;SF=20;SGB=-0.680642;VDB=0.598947	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:12:255,0,193	.	.	.	.	G	A	0	1	Fructose-1,6-bisphosphatase deficiency, 229700 (3)	.	.	.	25043030|12126934|9678974|9382095|8530070|7763253|7558035|4307819	CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS	.	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;IDENTICAL_PROTEIN_BINDING;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	BP6
L	9	98215822	rs28446339	G	A	222	PASS	PTCH1	patched 1	exonic	NM_000264,NM_001083602,NM_001083603,NM_001083604,NM_001083605,NM_001083606,NM_001083607	.	synonymous SNV	PTCH1:NM_000264:exon20:c.C3387T:p.G1129G,PTCH1:NM_001083602:exon20:c.C3189T:p.G1063G,PTCH1:NM_001083603:exon20:c.C3384T:p.G1128G,PTCH1:NM_001083604:exon20:c.C2934T:p.G978G,PTCH1:NM_001083605:exon20:c.C2934T:p.G978G,PTCH1:NM_001083606:exon20:c.C2934T:p.G978G,PTCH1:NM_001083607:exon20:c.C2934T:p.G978G	ENST00000418258.1,ENST00000430669.2,ENST00000375274.2,ENST00000437951.1,ENST00000421141.1,ENST00000429896.2,ENST00000331920.6	.	9q22.32	.	.	Score=772;Name=V$MYOGNF1_01	.	.	rs28446339	CLINSIG=Benign|Likely benign;CLNDBN=Gorlin_syndrome|not_specified;CLNACC=RCV000123023.4|RCV000192519.1;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT|MedGen;CLNDSDBID=C0004779:109400:377:69408002|CN169374	.	0.0265781	0.0327	0.00678914	7.7e-05	0.0017	0.0228	0.0176110374579	0.0264423391827	.	.	.	.	.	.	.	.	-2.219	-1.361	.	.	AC=1;AN=2;BQB=0.892506;DP4=14,5,17,11;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.724942;SF=20;SGB=-0.693054;VDB=0.491849	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:28:255,0,255	.	.	.	.	G	A	0	1	Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma, somatic, 605462 (3); Holoprosencephaly-7, 610828 (3)	.	.	.	24990743|24990742|24311692|22572734|19557015|19252479|18830227|18794898|18477452|18477451|17985375|17641202|17230190|17096318|17001668|16419085|15618519|15598212|15300262|14570707|12907805|12900905|12192414|11941477|11257109|10984056|10815860|10220428|9620294|9415689|9341860|9262482|9231911|8981943|8981940|8906794|8906787|8898207|8782823|8755929|8681379|8658145	SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;PATTERN_SPECIFICATION_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGIONALIZATION;REGULATION_OF_GROWTH;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_GROWTH;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;GROWTH;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;EMBRYONIC_MORPHOGENESIS;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;EMBRYONIC_DEVELOPMENT;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_HEDGEHOG_SIGNALING_PATHWAY;KEGG_PATHWAYS_IN_CANCER;KEGG_BASAL_CELL_CARCINOMA	PID_HEDGEHOG_2PATHWAY;PID_HEDGEHOG_GLIPATHWAY	BIOCARTA_SHH_PATHWAY;BIOCARTA_PTC1_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_B_2_SECRETIN_FAMILY_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	BP6
L	9	100919754	rs74943592	G	T	222	PASS	CORO2A	coronin, actin binding protein, 2A	exonic	NM_003389,NM_052820	.	synonymous SNV	CORO2A:NM_003389:exon2:c.C189A:p.I63I,CORO2A:NM_052820:exon2:c.C189A:p.I63I	ENST00000343933.5,ENST00000375077.4	.	9q22.33	.	.	.	.	.	rs74943592	.	.	0.0282392	0.0308	0.0081869	.	0.0044	0.0425	0.0421133366003	0.0396634548077	.	.	.	.	.	.	.	.	0.750	-0.481	1.131067,11.38	.	AC=2;AN=4;BQB=0.640608;DP4=35,9,34,9;DP=119;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951017;SF=20,22;SGB=-0.693097;VDB=0.787654	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:30:255,0,255	.	0/1:25:13:255,0,235	.	.	G	T	0	2	Coronin 2A	.	.	.	21331046|8985118	SIGNAL_TRANSDUCTION;INTRACELLULAR_SIGNALING_CASCADE	.	.	.	.	.	.	
H	9	101984010	rs201959100	G	A	222	PASS	ALG2	ALG2, alpha-1,3/1,6-mannosyltransferase	exonic	NM_033087	.	missense SNV	ALG2:NM_033087:exon1:c.C167T:p.P56L	ENST00000476832.1	CpG: 106	9q22.33	.	.	Score=811;Name=V$ER_Q6	.	.	rs201959100	.	.	0.00996678	0.0188	0.00439297	.	0.0010	0.0105	0.00612557595712	0.00961538588942	0.036,D	0.614,P	0.969,D	1,D	0.000002,D	2.37,M	-1.14,T	17.743	2.432	8.587	4.458611,24.2	4.66	AC=1;AN=2;BQB=0.950652;DP4=7,6,17,7;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.614875;SF=20;SGB=-0.692831;VDB=0.49182	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:24:255,0,255	.	.	.	.	G	A	0	1	?Congenital disorder of glycosylation, type Ii, 607906 (3); Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)	.	.	.	24461433|23404334|12684507	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_N_LINKED_GLYCOSYLATION;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;MANNOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	PP3
L	9	107513314	rs761573379	C	T	222	PASS	NIPSNAP3A	nipsnap homolog 3A (C. elegans)	exonic	NM_015469	.	synonymous SNV	NIPSNAP3A:NM_015469:exon2:c.C138T:p.P46P	ENST00000374767.4	.	9q31.1	.	.	.	.	.	rs761573379	.	.	.	.	.	.	8.239e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-0.044	-0.061	1.498656,13.31	.	AC=1;AN=2;BQB=0.907327;DP4=10,2,11,5;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691561;SF=20;SGB=-0.689466;VDB=0.146124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:16:255,0,255	.	.	.	.	C	T	0	1	NIPSNAP, C. elegans, homolog of, 3A	.	.	.	15177564|12427096	.	.	.	.	.	.	.	
L	9	107591224	rs199980051	G	A	222	PASS	ABCA1	ATP-binding cassette, sub-family A (ABC1), member 1	exonic	NM_005502	.	synonymous SNV	ABCA1:NM_005502:exon15:c.C2088T:p.S696S	ENST00000374736.3,ENST00000494467.1	.	9q31.1	.	.	Score=763;Name=V$PPARA_01	.	.	rs199980051	.	.	.	.	.	0.0002	7.43e-05	0	.	.	.	.	.	.	.	.	.	.	0.092	1.547	1.543077,13.54	.	AC=1;AN=2;BQB=0.997503;DP4=16,12,12,9;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875724;SF=20;SGB=-0.692352;VDB=0.767823	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:21:255,0,255	.	.	.	.	G	A	0	1	Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3); {Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)	.	.	.	22012398|21480869|20686565|20488992|20466885|20466882|18354102|17322896|16543947|16372134|15790791|15297675|15269218|15269217|15163665|14747463|12702168|12624133|12511593|12509412|12111381|12111371|12084722|12009425|11940086|11896206|11700048|11476965|11476961|11423537|11355874|11162504|11030331|10970803|10968783|10884428|10799318|10760292|10655069|10535983|10525055|10431238|10431237|10431236|10431227|10092505|9888879|9020838|9006906|8209894|8088782|7627690|4000967|3005356|1571556	REGULATION_OF_BIOLOGICAL_QUALITY;NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;LIPID_TRANSPORT;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;INTERLEUKIN_1_SECRETION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;NUCLEOTIDE_BIOSYNTHETIC_PROCESS;VESICLE_MEDIATED_TRANSPORT;ENDOSOME_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;INTEGRAL_TO_MEMBRANE;LIPID_RAFT;INTEGRAL_TO_PLASMA_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	PID_RXR_VDR_PATHWAY	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	PM2
H	9	113163128	rs199916059	G	A	129	PASS	SVEP1	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	splicing	NM_153366	NM_153366:exon40:c.9822+6C>T	.	.	ENST00000297826.5,ENST00000374469.1,ENST00000401783.2	.	9q31.3	.	.	.	.	.	rs199916059	.	.	.	.	.	8.5e-05	2.914e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-1.502	-0.759	.	.	AC=1;AN=2;BQB=1;DP4=5,0,7,1;DP=15;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989343;SF=20;SGB=-0.651104;VDB=0.77747	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:8:162,0,117	.	.	.	.	G	A	0	1	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1	.	.	.	16206243|11062057	.	.	.	.	.	.	.	
L	9	113168763	rs765692399	T	C	222	PASS	SVEP1	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	exonic	NM_153366	.	synonymous SNV	SVEP1:NM_153366:exon38:c.A9117G:p.L3039L	ENST00000297826.5,ENST00000374469.1,ENST00000401783.2	.	9q31.3	.	.	.	.	.	rs765692399	.	.	.	.	.	.	0.0001	0.0015	.	.	.	.	.	.	.	.	.	.	-0.469	-0.536	.	.	AC=1;AN=2;BQB=0.373889;DP4=11,6,9,9;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983659;SF=20;SGB=-0.691153;VDB=0.293824	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:18:255,0,255	.	.	.	.	T	C	0	1	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1	.	.	.	16206243|11062057	.	.	.	.	.	.	.	
L	9	113245903	rs148619149	G	A	222	PASS	SVEP1	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	exonic	NM_153366	.	synonymous SNV	SVEP1:NM_153366:exon10:c.C2001T:p.A667A	ENST00000374461.1,ENST00000374469.1,ENST00000302728.8,ENST00000467821.1,ENST00000401783.2	.	9q31.3	.	.	.	.	.	rs148619149	.	.	0.0315615	0.0268	0.00539137	.	0.0018	0.0241	0.0229709211332	0.0312500324519	.	.	.	.	.	.	.	.	-1.752	-0.225	.	.	AC=1;AN=2;BQB=0.99511;DP4=13,4,10,8;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.622512;SF=20;SGB=-0.691153;VDB=0.00256369	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:18:255,0,255	.	.	.	.	G	A	0	1	Sushi, von willebrand factor type A, EGF, and pentraxin domain-containing 1	.	.	.	16206243|11062057	.	.	.	.	.	.	.	
H	9	113449489	rs35142681	C	T	222	PASS	MUSK	muscle, skeletal, receptor tyrosine kinase	exonic	NM_001166280,NM_001166281,NM_005592	.	missense SNV	MUSK:NM_001166280:exon3:c.C299T:p.T100M,MUSK:NM_001166281:exon3:c.C299T:p.T100M,MUSK:NM_005592:exon3:c.C299T:p.T100M	ENST00000374440.3,ENST00000416899.2,ENST00000374448.4,ENST00000189978.5	.	9q31.3	.	.	.	.	.	rs35142681	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000117646.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0	.	0.00978435	0.0227	0.0239	0.0028	.	0.00869565	0.019,D	0.055,B	0.204,B	0.534608,D	0.392447,N	0.975,L	-0.35,T	13.5019	-1.188	0.204	1.261417,12.07	.	AC=2;AN=4;BQB=0.836025;DP4=21,11,26,13;DP=102;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.945198;SF=0,20;SGB=-0.69168;VDB=0.0372401	GT:DP:DV:PL	0/1:38:19:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:20:255,0,255	.	.	.	.	C	T	0	2	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3); Fetal akinesia deformation sequence, 208150 (3)	.	.	.	25612909|25537362|20371544|19949040|18718936|16794080|15496425|12796783|12756238|12165471|11323662|8653786|7624144|7546737	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	BIOCARTA_AGR_PATHWAY;BIOCARTA_ACH_PATHWAY	.	BP6
H	9	113637741	rs147367410	A	G	208	PASS	LPAR1	lysophosphatidic acid receptor 1	exonic	NM_001401,NM_057159	.	missense SNV	LPAR1:NM_001401:exon4:c.T1055C:p.I352T,LPAR1:NM_057159:exon5:c.T1055C:p.I352T	ENST00000374431.3,ENST00000358883.4,ENST00000541779.1,ENST00000374430.2,ENST00000538760.1	.	9q31.3	.	.	.	.	.	rs147367410	.	.	0.0182724	0.0188	0.00379393	.	0.0014	0.0195	0.0182724	0.0168269108173	0.001,D	0.001,B	0.0,B	0.999994,D	0.019774,N	0.895,L	-1.07,T	15.7905	2.324	9.270	3.769936,23.4	6.06	AC=1;AN=2;BQB=0.997859;DP4=14,1,13,1;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.234906;SF=20;SGB=-0.686358;VDB=0.152835	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:14:241,0,252	.	.	.	.	A	G	0	1	Lysophosphatidic acid receptor 1	.	.	.	18325907|18066075|12037142|9804623|9721207|9070858|9069262|8922387	.	.	.	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION	PID_LYSOPHOSPHOLIPID_PATHWAY	BIOCARTA_AKAP13_PATHWAY	REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
L	9	114090168	rs777446444	C	T	222	PASS	OR2K2	olfactory receptor, family 2, subfamily K, member 2	exonic	NM_205859	.	synonymous SNV	OR2K2:NM_205859:exon1:c.G546A:p.A182A	ENST00000302681.1,ENST00000374428.1	.	9q31.3	.	.	Score=867;Name=V$MEF2_02	.	.	rs777446444	.	.	.	.	.	.	8.279e-06	0	.	.	.	.	.	.	.	.	.	.	-5.423	-10.936	.	.	AC=1;AN=2;BQB=0.929538;DP4=11,7,17,10;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.948756;SF=20;SGB=-0.693021;VDB=0.284745	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:27:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	PM2
H	9	114464401	rs192587937	C	T	202.5	PASS	C9orf84	chromosome 9 open reading frame 84	exonic	NM_001080551,NM_173521	.	missense SNV	C9orf84:NM_001080551:exon19:c.G2764A:p.E922K,C9orf84:NM_173521:exon21:c.G2881A:p.E961K	ENST00000318737.4,ENST00000394779.3,ENST00000394777.4,ENST00000374287.3	.	9q31.3	.	.	.	.	.	rs192587937	.	.	0.0116279	0.0099	0.00239617	.	0.0012	0.0162	0.00842266238897	0.0132211475962	0.298,T	0.002,B	0.0,B	0.998289,N	0.849223,N	0.685,N	3.51,T	6.5716	-0.578	0.343	1.701302,14.41	.	AC=2;AN=4;BQB=0.912219;DP4=13,8,20,5;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.710548;SF=11,20;SGB=-0.689466;VDB=0.0322867	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:24:16:255,0,231	.	.	.	.	.	.	.	.	0/1:22:9:216,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	9	115962208	rs145944717	C	T	208	PASS	FKBP15	FK506 binding protein 15, 133kDa	exonic	NM_015258	.	synonymous SNV	FKBP15:NM_015258:exon7:c.G534A:p.L178L	ENST00000238256.3	.	9q32	.	.	Score=744;Name=V$ROAZ_01	.	.	rs145944717	.	.	0.0182724	0.0238	0.00539137	8.1e-05	0.0019	0.0237	0.00995404704441	0.0180288266827	.	.	.	.	.	.	.	.	0.359	0.254	1.380036,12.68	3.02	AC=3;AN=6;BQB=0.0887307;DP4=14,5,18,14;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.188669;SF=4,14,20;SGB=-0.680642;VDB=0.457614	GT:DP:DV:PL	.	.	.	.	0/1:18:12:255,0,182	.	.	.	.	.	.	.	.	.	0/1:16:12:255,0,144	.	.	.	.	.	0/1:17:8:214,0,246	.	.	.	.	C	T	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	9	117093939	rs12685968	G	C	222	PASS	ORM2	orosomucoid 2	exonic	NM_000608	.	missense SNV	ORM2:NM_000608:exon4:c.G421C:p.G141R	ENST00000431067.2,ENST00000412657.1	.	9q32	.	.	.	Score=0.965789;Name=chr9:117084245	.	rs12685968	.	.	0.0415282	0.0357	0.00758786	.	0.0032	0.0416	0.0415282	0.044471121875	0.001,D	0.999,D	1.0,D	0.999999,N	0.039117,N	2.47,M	3.13,T	9.6759	1.977	3.673	3.933753,23.5	2.95	AC=3;AN=6;BQB=0.577464;DP4=52,32,47,38;DP=228;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.635481;MQSB=0.99788;RPB=0.0131846;SF=1,20,22;SGB=-0.693132;VDB=0.240756	GT:DP:DV:PL	.	0/1:78:34:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:29:255,0,255	.	0/1:41:22:255,0,255	.	.	G	C	0	3	Orosomucoid-2	.	.	.	9050929|3770743|3679210|3631077|3400642|3356164|3235093|3169743|3003086|2970990|2822385	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;ACUTE_INFLAMMATORY_RESPONSE;RESPONSE_TO_WOUNDING	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	.	.	
H	9	117143341	rs199906681	T	A	176	PASS	AKNA	AT-hook transcription factor	exonic	NM_030767	.	missense SNV	AKNA:NM_030767:exon2:c.A273T:p.E91D	ENST00000312033.3,ENST00000374088.3,ENST00000307564.4	.	9q32	.	.	.	.	.	rs199906681	.	.	0.00498339	0.004	0.000798722	.	0.0018	0.0199	0.00498339	0.00600961572115	0.023,D	0.328,B	0.824,P	0.946019,N	0.000680,D	1.385,L	0.85,T	5.6131	0.122	0.353	1.385214,12.71	.	AC=1;AN=2;BQB=0.808949;DP4=11,2,7,3;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.481307;SF=20;SGB=-0.670168;VDB=0.409296	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:10:209,0,248	.	.	.	.	T	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	9	119124875	rs117752286	T	C	222	PASS	PAPPA	pregnancy-associated plasma protein A, pappalysin 1	exonic	NM_002581	.	missense SNV	PAPPA:NM_002581:exon18:c.T4352C:p.L1451P	ENST00000534838.1,ENST00000328252.3	.	9q33.1	.	.	.	.	.	rs117752286	.	.	0.038206	0.0377	0.0209665	0.0005	0.0088	0.0309	0.0321592545176	0.0348557956731	0.317,T	0.0,B	0.0,B	0.999999,N	0.012862,N	0.55,N	-0.05,T	6.2808	-0.488	-0.032	.	.	AC=3;AN=6;BQB=0.926762;DP4=47,16,67,16;DP=201;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.713186;SF=13,17,20;SGB=-0.693079;VDB=0.254376	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:29:255,0,255	.	.	.	0/1:41:24:255,0,255	.	.	0/1:57:30:255,0,255	.	.	.	.	T	C	0	3	Pregnancy-associated plasma protein A	.	.	.	16567644|15656990|15023879|14530192|12524241|12087395|11932314|11586954|11134163|10913121|10077652|8620868|7774911|7685339|7679961|7508748|6194522	.	EXTRACELLULAR_REGION	METALLOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS	
L	9	124525862	rs80008292	C	T	222	PASS	DAB2IP	DAB2 interacting protein	exonic	NM_032552,NM_138709	.	synonymous SNV	DAB2IP:NM_138709:exon5:c.C877T:p.L293L,DAB2IP:NM_032552:exon7:c.C1165T:p.L389L	ENST00000309989.1,ENST00000408936.3,ENST00000259371.2	.	9q33.2	.	.	Score=850;Name=V$GRE_C	.	.	rs80008292	.	.	0.038206	0.0327	0.00658946	0.0003	0.0030	0.0396	0.0245023111792	0.0360577115385	.	.	.	.	.	.	.	.	1.159	1.310	1.742105,14.65	2.99	AC=1;AN=2;BQB=0.459001;DP4=16,4,17,10;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.6323;SF=20;SGB=-0.693021;VDB=0.596426	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:27:255,0,255	.	.	.	.	C	T	0	1	DAB2-interacting protein	.	.	.	20154697|15817459|15386433|15310755|12813029|12446720|11944990|11812785|11214970	.	.	.	.	PID_RAS_PATHWAY	.	.	
L	9	124535093	rs74792331	C	G	222	PASS	DAB2IP	DAB2 interacting protein	exonic	NM_032552,NM_138709	.	synonymous SNV	DAB2IP:NM_138709:exon10:c.C1914G:p.G638G,DAB2IP:NM_032552:exon12:c.C2202G:p.G734G	ENST00000309989.1,ENST00000408936.3,ENST00000259371.2	CpG: 45	9q33.2	.	.	Score=793;Name=V$OLF1_01	.	.	rs74792331	.	.	0.00498339	0.004	0.000798722	.	0.0005	0.0071	0.00498339	0.00480769432692	.	.	.	.	.	.	.	.	1.070	1.809	.	3.77	AC=1;AN=2;BQB=0.618308;DP4=22,18,20,19;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.782093;SF=20;SGB=-0.693144;VDB=0.022839	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:39:255,0,255	.	.	.	.	C	G	0	1	DAB2-interacting protein	.	.	.	20154697|15817459|15386433|15310755|12813029|12446720|11944990|11812785|11214970	.	.	.	.	PID_RAS_PATHWAY	.	.	
L	9	125761051	rs605546	G	C	165.67	PASS	RABGAP1	RAB GTPase activating protein 1	splicing	NM_012197	NM_012197:exon10:c.1374+6G>C	.	.	ENST00000373647.4	.	9q33.2	.	.	.	.	.	rs605546	.	.	0.0531561	0.0556	0.0341454	.	0.0212	0.0482	0.0531561	0.0432691961538	.	.	.	.	.	.	.	.	-2.559	-1.098	.	.	AC=16,2;AN=30;BQB=0.972604;DP4=26,73,32,97;DP=280;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.894839;SF=3,5,7,8,9,10,11,16,17,18,19,20,21,22,24;SGB=-0.662043;VDB=0.225623	GT:DP:DV:PL	.	.	.	0/1:15:9:192,0,177,.,.,.	.	1/1:12:12:255,36,0,.,.,.	.	1/1:11:11:176,33,0,.,.,.	0/1:20:10:222,0,193,.,.,.	1/1:14:14:255,42,0,.,.,.	0/1:14:7:209,0,151,.,.,.	0/2:17:9:235,.,.,0,.,196	.	.	.	.	0/1:11:6:157,0,153,.,.,.	0/2:12:5:103,.,.,0,.,131	0/1:22:9:212,0,235,.,.,.	0/1:15:7:203,0,213,.,.,.	0/1:17:7:165,0,255,.,.,.	0/1:17:9:225,0,178,.,.,.	0/1:12:5:133,0,249,.,.,.	.	0/1:19:9:220,0,255,.,.,.	G	A,C	3	12	RAB GTPase-activating protein 1	.	.	.	10202141	CELL_CYCLE_GO_0007049	ORGANELLE_PART;MICROTUBULE_ASSOCIATED_COMPLEX;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSOL;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;GTPASE_ACTIVATOR_ACTIVITY	.	.	.	.	
H	9	126144346	rs185875912	G	A	222	PASS	DENND1A	DENN/MADD domain containing 1A	exonic	NM_020946	.	missense SNV	DENND1A:NM_020946:exon22:c.C2395T:p.P799S	ENST00000542603.1,ENST00000394219.3,ENST00000473039.1,ENST00000373624.2	.	9q33.3	.	.	.	.	.	rs185875912	.	.	0.0282392	0.0188	0.00379393	.	0.0028	0.0291	0.0298621733538	0.0276442408654	0.0,D	0.9,P	0.996,D	0.999999,N	0.000239,D	2.595,M	1.64,T	10.2577	2.145	3.837	2.176284,17.35	4.67	AC=3;AN=6;BQB=0.473829;DP4=55,27,53,21;DP=212;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.972533;SF=8,10,20;SGB=-0.692976;VDB=0.100145	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:55:26:255,0,255	.	0/1:48:26:255,0,255	.	.	.	.	.	.	.	.	.	0/1:53:22:255,0,255	.	.	.	.	G	A	0	3	DENN/MADD domain-containing protein 1A	.	.	.	20154091|17182770|10997877	.	.	.	.	.	.	.	PP3
L	9	130578006	rs181330955	G	A	222	PASS	ENG	endoglin	exonic	NM_001114753,NM_001278138	.	synonymous SNV	ENG:NM_001114753:exon15:c.C1932T:p.I644I,ENG:NM_001278138:exon15:c.C1386T:p.I462I	ENST00000344849.3,ENST00000373203.4	.	9q34.11	.	.	.	.	.	rs181330955	.	.	0.0249169	0.0298	0.0233626	0.0004	0.0193	0.0434	0.0168453082083	0.0204326602163	.	.	.	.	.	.	.	.	0.355	0.911	1.815845,15.08	.	AC=1;AN=2;BQB=0.956947;DP4=13,12,18,13;DP=75;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.791424;SF=20;SGB=-0.69311;VDB=0.368254	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:31:255,0,255	.	.	.	.	G	A	0	1	Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)	.	.	.	23868260|20813953|20364125|19670444|18775991|18312453|17204053|16542389|16470787|16287957|15879500|15521985|15385967|15024723|14729353|12786761|12673790|12668602|11440987|10982033|10767348|10749981|10562296|10545596|10348742|9845534|9554745|9366572|9245986|8404038|8370410|7894484|7782079|2601709|1692830	REGULATION_OF_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;ANATOMICAL_STRUCTURE_MORPHOGENESIS;REGULATION_OF_SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_ALK1PATHWAY;PID_HIF1_TFPATHWAY	.	.	
H	9	130674647	.	G	A	222	PASS	ST6GALNAC4	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	exonic	NM_175039,NM_175040	.	stopgain	ST6GALNAC4:NM_175040:exon3:c.C259T:p.Q87X,ST6GALNAC4:NM_175039:exon4:c.C511T:p.Q171X	ENST00000335791.5,ENST00000495983.1,ENST00000343609.2	CpG: 34	9q34.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,A	0.001150,N	.	.	12.738	2.632	3.637	11.074201,37	4.09	AC=1;AN=2;BQB=0.84697;DP4=15,1,15,2;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.363392;SF=20;SGB=-0.690438;VDB=0.13644	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:17:255,0,255	.	.	.	.	G	A	0	1	Sialyltransferase 7D	.	.	.	12594047|11062056|10369878|10207017	GLYCOLIPID_METABOLIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS	CELL_FRACTION;SOLUBLE_FRACTION	.	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GANGLIO_SERIES	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	9	131038890	rs527573770	A	C	222	PASS	SWI5	SWI5 homologous recombination repair protein	exonic	NM_001040011	.	synonymous SNV	SWI5:NM_001040011:exon2:c.A282C:p.L94L	ENST00000418976.1,ENST00000495313.1,ENST00000608796.1,ENST00000419867.2,ENST00000320188.5	.	9q34.11	.	.	.	.	.	rs527573770	.	.	0.00166113	0.001	0.000199681	.	8.482e-06	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.170	-0.827	.	.	AC=1;AN=2;BQB=0.50293;DP4=36,1,38,5;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.642368;SF=20;SGB=-0.693146;VDB=0.0689398	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:43:255,0,255	.	.	.	.	A	C	0	1	SWi5 homologous recombination repair protein	.	.	.	21252223|20976249	.	.	.	.	.	.	.	
L	9	131038893	rs546614956	T	C	222	PASS	SWI5	SWI5 homologous recombination repair protein	exonic	NM_001040011	.	synonymous SNV	SWI5:NM_001040011:exon2:c.T285C:p.L95L	ENST00000418976.1,ENST00000495313.1,ENST00000608796.1,ENST00000419867.2,ENST00000320188.5	.	9q34.11	.	.	.	.	.	rs546614956	.	.	0.00166113	0.001	0.000199681	.	8.455e-06	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.681	-0.593	.	.	AC=1;AN=2;BQB=0.424368;DP4=38,1,39,5;DP=108;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.384663;SF=20;SGB=-0.693146;VDB=0.063244	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:83:44:255,0,255	.	.	.	.	T	C	0	1	SWi5 homologous recombination repair protein	.	.	.	21252223|20976249	.	.	.	.	.	.	.	
L	9	131456213	rs145251942	A	T	172	PASS	SET	SET nuclear proto-oncogene	exonic	NM_001122821,NM_001248000,NM_001248001,NM_003011	.	missense SNV	SET:NM_001122821:exon7:c.A741T:p.E247D,SET:NM_001248000:exon7:c.A675T:p.E225D,SET:NM_001248001:exon7:c.A669T:p.E223D,SET:NM_003011:exon7:c.A702T:p.E234D	ENST00000477806.1,ENST00000372692.4,ENST00000372688.4,ENST00000322030.8,ENST00000409104.3	.	9q34.11	.	.	.	Score=0.942242;Name=chr12:107665276	Score=279;Name="4964572:GA-rich(Low_complexity)"	rs145251942	.	.	0.00332226	0.003	0.00199681	0.0015	0.0007	0.0007	0.00332226	0.00332226	0.458,T	0.004,B	0.0,B	0.99999,D	0.000009,N	0.31,N	1.33,T	3.5409	-0.205	-0.442	1.425815,12.92	.	AC=1;AN=2;BQB=0.743567;DP4=2,6,5,4;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.944865;SF=20;SGB=-0.662043;VDB=0.607679	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:9:205,0,196	.	.	.	.	A	T	0	1	SET gene	.	.	.	18374643|12628186|11231286|9773788|8725238|7915232|1630450	DNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;CHROMATIN_ASSEMBLY;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELLULAR_COMPONENT_DISASSEMBLY;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;NUCLEOSOME_ASSEMBLY;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DNA_METABOLIC_PROCESS;PROTEIN_DNA_COMPLEX_ASSEMBLY;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_COMPLEX_DISASSEMBLY;REGULATION_OF_CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;PROTEIN_COMPLEX_DISASSEMBLY;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_COMPONENT_ASSEMBLY;NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;COVALENT_CHROMATIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;DNA_REPLICATION;PROTEIN_METABOLIC_PROCESS;HISTONE_MODIFICATION;MACROMOLECULAR_COMPLEX_DISASSEMBLY;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;CHROMATIN_MODIFICATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;DNA_PACKAGING;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CHROMATIN_ASSEMBLY_OR_DISASSEMBLY	CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;NUCLEUS;PERINUCLEAR_REGION_OF_CYTOPLASM	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;PHOSPHATASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	.	PID_ERA_GENOMIC_PATHWAY	BIOCARTA_SET_PATHWAY	.	
H	9	136233510	rs141358848	C	A	222	PASS	SURF4	surfeit 4	exonic	NM_001280788,NM_001280789,NM_001280790,NM_001280791,NM_001280792,NM_033161	.	missense SNV	SURF4:NM_001280788:exon3:c.G232T:p.A78S,SURF4:NM_001280789:exon3:c.G277T:p.A93S,SURF4:NM_001280791:exon3:c.G148T:p.A50S,SURF4:NM_001280792:exon3:c.G277T:p.A93S,SURF4:NM_033161:exon3:c.G277T:p.A93S,SURF4:NM_001280790:exon4:c.G148T:p.A50S	ENST00000371991.3,ENST00000371989.3,ENST00000545297.1,ENST00000467910.1,ENST00000485435.2	.	9q34.2	.	.	.	.	.	rs141358848	.	.	0.00166113	0.004	0.000798722	.	0.0003	0.0043	0.00229709104135	0.00166113	0.098,T	0.802,P	0.98,D	1,D	0.000000,D	1.98,M	.	17.3426	2.331	7.539	6.238024,28.8	5.01	AC=1;AN=2;BQB=0.908075;DP4=17,11,11,5;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.598952;SF=20;SGB=-0.689466;VDB=0.204202	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:16:255,0,255	.	.	.	.	C	A	0	1	Surfeit-4	.	.	.	11711675|9740673|9196076	.	CYTOPLASMIC_PART;CYTOPLASM;ER_GOLGI_INTERMEDIATE_COMPARTMENT	.	.	.	.	.	
L	9	138377604	rs142537495	C	T	222	PASS	PPP1R26	protein phosphatase 1, regulatory subunit 26	exonic	NM_014811	.	synonymous SNV	PPP1R26:NM_014811:exon4:c.C1248T:p.P416P	ENST00000605286.1,ENST00000605660.1,ENST00000401470.3,ENST00000602993.1,ENST00000604351.1,ENST00000356818.2	.	9q34.3	.	.	Score=843;Name=V$CEBP_C	Score=0.90162;Name=chr22:18703263	.	rs142537495	.	.	0.00664452	0.0089	0.00179712	.	0.0005	0.0065	0.00664452	0.00664452	.	.	.	.	.	.	.	.	-2.705	-3.363	1.220565,11.85	.	AC=1;AN=2;BQB=0.45572;DP4=24,5,28,8;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98855;SF=20;SGB=-0.693139;VDB=0.0344657	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:65:36:255,0,255	.	.	.	.	C	T	0	1	Protein phosphatase 1, regulatory subunit 26	.	.	.	16053918|9734811	.	.	.	.	.	.	.	
L	9	138678255	rs77912754	G	A	222	PASS	KCNT1	potassium channel, sodium activated subfamily T, member 1	exonic	NM_001272003,NM_020822	.	synonymous SNV	KCNT1:NM_001272003:exon28:c.G3255A:p.A1085A,KCNT1:NM_020822:exon29:c.G3390A:p.A1130A	ENST00000490355.2,ENST00000491806.2,ENST00000487664.1,ENST00000371757.2,ENST00000263604.3,ENST00000486577.2,ENST00000488444.2,ENST00000298480.5	CpG: 39	9q34.3	.	.	.	.	.	rs77912754	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000117371.2;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.0166113	0.0298	0.00678914	0.0002	0.0032	0.0422	0.01301684634	0.0180288408654	.	.	.	.	.	.	.	.	-1.894	-3.128	.	.	AC=1;AN=2;BQB=0.655816;DP4=10,6,10,7;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.623151;SF=20;SGB=-0.690438;VDB=0.711153	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:17:255,0,255	.	.	.	.	G	A	0	1	Epileptic encephalopathy, early infantile, 14, 614959 (3); Epilepsy, nocturnal frontal lobe, 5, 615005 (3)	.	.	.	24120652|24029078|23086397|23086396|20512134|18479385|10718198	.	.	.	.	.	.	.	
L	9	139733432	.	C	T	222	PASS	RABL6	RAB, member RAS oncogene family-like 6	exonic	NM_001173988,NM_024718	.	missense SNV	RABL6:NM_001173988:exon11:c.C1355T:p.P452L,RABL6:NM_024718:exon11:c.C1352T:p.P451L	ENST00000432842.2,ENST00000371663.4,ENST00000371675.3,ENST00000311502.7,ENST00000357466.2	.	9q34.3	.	.	Score=900;Name=V$USF_Q6	Score=0.941865;Name=chr18:15003867	.	.	.	.	.	.	.	.	.	.	.	.	0.138,T	0.28,B	0.782,P	1,N	0.287994,N	1.32,L	-0.01,T	5.3568	0.840	0.853	2.679742,20.7	2.52	AC=1;AN=2;BQB=0.359891;DP4=37,2,27,6;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934769;SF=20;SGB=-0.693127;VDB=0.893485	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:72:33:255,0,255	.	.	.	.	C	T	0	1	Partner of ARF	.	.	.	16582619	.	.	.	.	.	.	.	PM2
L	9	139960816	rs201774279	C	T	201	PASS	SAPCD2	suppressor APC domain containing 2	exonic	NM_178448	.	synonymous SNV	SAPCD2:NM_178448:exon2:c.G582A:p.A194A	ENST00000409687.3	.	9q34.3	.	.	Score=828;Name=V$CHOP_01	.	.	rs201774279	.	.	0.0116279	0.0079	0.00159744	.	0.0007	0.0078	0.00995405644717	0.0108173020433	.	.	.	.	.	.	.	.	0.787	0.169	1.749300,14.69	.	AC=1;AN=2;BQB=0.970151;DP4=9,3,10,1;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.451162;SF=20;SGB=-0.676189;VDB=0.505957	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:11:234,0,255	.	.	.	.	C	T	0	1	Chromosome 9 open reading frame 140	.	.	.	17525738	.	.	.	.	.	.	.	
H	9	140002963	rs181795958	G	A	222	PASS	MAN1B1	mannosidase, alpha, class 1B, member 1	exonic	NM_016219	.	missense SNV	MAN1B1:NM_016219:exon13:c.G2020A:p.D674N	ENST00000540391.1,ENST00000474902.1,ENST00000371589.4	.	9q34.3	.	.	Score=837;Name=V$BRN2_01	.	.	rs181795958	CLINSIG=Uncertain significance;CLNDBN=not_provided;CLNACC=RCV000117579.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0.0166113	0.0139	0.00279553	7.7e-05	0.0007	0.0083	0.0114854522818	0.016826925	0.002,D	0.992,D	1.0,D	1,D	.	3.125,M	-1.95,D	18.2271	2.561	9.152	5.592857,26.5	5.44	AC=1;AN=2;BQB=0.97779;DP4=28,9,30,8;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.195479;SF=20;SGB=-0.693143;VDB=0.591396	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:38:255,0,255	.	.	.	.	G	A	0	1	Mental retardation, autosomal recessive 15, 614202 (3)	.	.	.	21763484|10521544|10409699	OLIGOSACCHARIDE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS	INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	CATION_BINDING;CALCIUM_ION_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS;ION_BINDING	KEGG_N_GLYCAN_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_CALNEXIN_CALRETICULIN_CYCLE;REACTOME_N_GLYCAN_TRIMMING_IN_THE_ER_AND_CALNEXIN_CALRETICULIN_CYCLE	
H	9	140245599	rs575148945	C	G	222	PASS	EXD3	exonuclease 3'-5' domain containing 3	exonic	NM_017820	.	missense SNV	EXD3:NM_017820:exon14:c.G1385C:p.G462A	ENST00000340951.4,ENST00000342129.4	.	9q34.3	.	.	.	.	.	rs575148945	.	.	0	0.001	0.000199681	.	3.614e-05	0.0006	.	0.00434783	0.027,D	0.995,D	1.0,D	0.999301,N	0.000003,U	3.195,M	-0.24,T	9.3953	0.718	0.943	3.078098,22.5	3.27	AC=1;AN=2;BQB=0.930189;DP4=25,20,24,17;DP=121;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.695818;SF=20;SGB=-0.693145;VDB=0.618124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:86:41:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	10	5541294	rs116143222	C	T	222	PASS	CALML5	calmodulin-like 5	exonic	NM_017422	.	synonymous SNV	CALML5:NM_017422:exon1:c.G108A:p.A36A	ENST00000380332.3	CpG: 65	10p15.1	.	.	.	.	.	rs116143222	.	.	0.0116279	0.0099	0.00219649	0.0002	0.0012	0.0147	0.00995405644717	0.0108173020433	.	.	.	.	.	.	.	.	-0.068	-0.103	1.315585,12.35	.	AC=1;AN=2;BQB=0.704885;DP4=34,16,38,11;DP=145;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.757472;SF=20;SGB=-0.693147;VDB=0.200299	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:49:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		SYSTEM_DEVELOPMENT;SIGNAL_TRANSDUCTION;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_ALZHEIMERS_DISEASE;KEGG_GLIOMA	.	.	.	
L	10	16970306	rs377588767	C	T	158	PASS	CUBN	cubilin (intrinsic factor-cobalamin receptor)	splicing	NM_001081	NM_001081:exon41:c.6125-4G>A	.	.	ENST00000377833.4	.	10p13	.	.	.	Score=0.918102;Name=chr10:45622567	.	rs377588767	.	.	.	.	.	7.7e-05	2.491e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-0.614	-1.855	.	.	AC=1;AN=2;BQB=0.86931;DP4=4,5,5,2;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9986;SF=20;SGB=-0.636426;VDB=0.369435	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:7:191,0,229	.	.	.	.	C	T	0	1	Megaloblastic anemia-1, Finnish type, 261100 (3)	.	.	.	21208123|20237569|14576052|11717447|10887099|10552972|10371504|10080186|9572993|9478979|9334227|9153271|8510165|7573042|1848001	ESTABLISHMENT_OF_LOCALIZATION;VITAMIN_TRANSPORT;TRANSPORT	MEMBRANE	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;RECEPTOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_STEROID_HORMONES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM	
H	10	21845795	rs193253280	A	T	222	PASS	MLLT10	myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10	exonic	NM_001195628,NM_001195630	.	missense SNV	MLLT10:NM_001195628:exon4:c.A464T:p.D155V,MLLT10:NM_001195630:exon4:c.A464T:p.D155V	ENST00000495130.1,ENST00000377059.3,ENST00000377072.3,ENST00000307729.7,ENST00000377091.2,ENST00000377100.3,ENST00000446906.2	.	10p12.31	.	.	.	.	.	rs193253280	.	.	0.0149502	0.0149	0.00319489	.	0.0008	0.0237	.	0.0156250233173	0.0,D	0.015,B	0.072,B	1,N	.	.	0.54,T	2.6831	-0.140	-0.169	.	.	AC=2;AN=4;BQB=0.641797;DP4=10,27,14,35;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.697668;SF=18,20;SGB=-0.69311;VDB=0.208049	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:31:255,0,255	.	0/1:34:18:255,0,255	.	.	.	.	A	T	0	2	Leukemia, acute myeloid, 601626 (3)	.	.	.	11756182|8896421|8643484|7888665	.	.	.	.	.	.	.	
H	10	27456159	rs759534810	G	A	219	PASS	MASTL	microtubule associated serine/threonine kinase-like	exonic	NM_001172303,NM_001172304,NM_032844	.	missense SNV	MASTL:NM_001172303:exon7:c.G940A:p.E314K,MASTL:NM_001172304:exon7:c.G940A:p.E314K,MASTL:NM_032844:exon7:c.G940A:p.E314K	ENST00000375940.4,ENST00000375946.4,ENST00000342386.6	.	10p12.1	.	.	.	.	.	rs759534810	.	.	.	.	.	.	4.119e-05	0.0005	.	.	0.002,D	0.999,D	1.0,D	0.999996,D	0.000000,D	2.615,M	-0.31,T	20.8598	2.937	7.125	6.965003,33	6.16	AC=1;AN=2;BQB=0.99778;DP4=3,2,5,4;DP=17;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.945959;SF=20;SGB=-0.662043;VDB=0.0599639	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:9:252,0,145	.	.	.	.	G	A	0	1	?Thrombocytopenia-2, 188000 (3)	.	.	.	21211618|21164014|21164013|19460416|12890928|10891439	.	.	.	.	.	.	.	PP3
M	10	43292346	rs3814621	T	C	222	PASS	BMS1	BMS1 ribosome biogenesis factor	exonic	NM_014753	.	missense SNV	BMS1:NM_014753:exon10:c.T1654C:p.S552P	ENST00000374518.5	.	10q11.21	.	.	.	.	.	rs3814621	.	.	0.038206	0.0337	0.00678914	.	0.0032	0.0448	0.0336906431853	0.0372596274038	0.278,T	0.0,B	0.0,B	1,N	0.025079,N	0.69,N	1.65,T	9.3558	-0.757	-1.945	.	.	AC=1;AN=2;BQB=0.955563;DP4=11,5,9,7;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.852313;SF=20;SGB=-0.689466;VDB=0.682027	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:16:255,0,255	.	.	.	.	T	C	0	1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)	.	.	.	23785305|11565749|11565748|8724849	.	.	.	.	.	.	.	
L	10	43326348	rs181709983	A	G	222	PASS	BMS1	BMS1 ribosome biogenesis factor	exonic	NM_014753	.	missense SNV	BMS1:NM_014753:exon23:c.A3653G:p.H1218R	ENST00000374518.5	.	10q11.21	.	.	.	Score=0.95533;Name=chr15:21360743	.	rs181709983	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0020	0.00229708830015	0.0036057709375	0.445,T	0.054,B	0.361,B	0.67704,N	0.000002,D	1.05,L	1.77,T	15.0024	1.940	7.183	1.318786,12.37	5.16	AC=1;AN=2;BQB=0.912203;DP4=13,3,18,4;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978812;SF=20;SGB=-0.692562;VDB=0.993092	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:22:255,0,255	.	.	.	.	A	G	0	1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)	.	.	.	23785305|11565749|11565748|8724849	.	.	.	.	.	.	.	
L	10	50534364	rs577902200	C	T	222	PASS	C10orf71	chromosome 10 open reading frame 71	exonic	NM_001135196	.	synonymous SNV	C10orf71:NM_001135196:exon3:c.C3774T:p.P1258P	ENST00000374144.3,ENST00000323868.4	CpG: 36	10q11.23	.	.	Score=878;Name=V$AP2_Q6	.	.	rs577902200	.	.	0.00996678	0.0069	0.00139776	.	0.0008	0.0030	0.00994318	0.0120192314423	.	.	.	.	.	.	.	.	-2.731	-5.609	.	.	AC=1;AN=2;BQB=0.753037;DP4=16,20,6,16;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.639563;SF=20;SGB=-0.692562;VDB=0.0876002	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:22:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	10	64416220	rs76895268	C	T	144	PASS	ZNF365	zinc finger protein 365	exonic	NM_199451,NM_199452	.	synonymous SNV	ZNF365:NM_199452:exon5:c.C456T:p.D152D,ZNF365:NM_199451:exon6:c.C1194T:p.D398D	ENST00000395249.1,ENST00000395251.1,ENST00000410046.3	.	10q21.2	.	.	.	.	Score=270;Name="540248:LTR84b(LTR)"	rs76895268	.	.	0.0747508	0.0575	0.0121805	0.0002	0.0052	0.0451	0.0689127209801	0.0661057579327	.	.	.	.	.	.	.	.	-0.385	-0.505	.	.	AC=5;AN=10;BQB=0.594978;DP4=36,13,22,9;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98568;SF=8,9,15,18,20;SGB=-0.556411;VDB=0.573211	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:12:4:97,0,241	0/1:11:4:147,0,212	.	.	.	.	.	0/1:20:9:255,0,255	.	.	0/1:22:8:203,0,255	.	0/1:15:6:184,0,247	.	.	.	.	C	T	0	5	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)	.	.	.	26073781|16617106|12740763|10048485	.	.	.	.	.	.	.	
L	10	69948709	.	G	A	222	PASS	MYPN	myopalladin	exonic	NM_001256267,NM_001256268,NM_032578	.	synonymous SNV	MYPN:NM_032578:exon13:c.G2751A:p.E917E,MYPN:NM_001256267:exon14:c.G2751A:p.E917E,MYPN:NM_001256268:exon17:c.G1869A:p.E623E	ENST00000540630.1,ENST00000354393.2,ENST00000358913.5	.	10q21.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.469	1.938	.	3.97	AC=1;AN=2;BQB=1;DP4=11,3,10,4;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.858983;SF=20;SGB=-0.686358;VDB=0.6178	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	.	.	G	A	0	1	Cardiomyopathy, dilated, 1KK, 615248 (3); Cardiomyopathy, hypertrophic, 22, 615248 (3); Cardiomyopathy, familial restrictive, 4, 615248 (3)	.	.	.	22892539|22286171|18006477|12482578|11309420	.	.	.	.	.	.	.	PM2
L	10	70992634	rs35746503	C	T	222	PASS	HKDC1	hexokinase domain containing 1	exonic	NM_025130	.	missense SNV	HKDC1:NM_025130:exon3:c.C341T:p.T114M	ENST00000395086.2,ENST00000354624.5	.	10q22.1	.	.	.	.	.	rs35746503	.	.	0.0116279	0.0109	0.0169728	0.0075	0.0136	0.0147	0.00995405644717	0.00961538064904	0.062,T	0.003,B	0.001,B	0.946069,N	0.010227,N	-0.015,N	-4.79,D	7.3778	0.298	0.411	2.851255,21.6	.	AC=1;AN=2;BQB=0.927502;DP4=24,9,21,8;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.62263;SF=20;SGB=-0.693079;VDB=0.501078	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:29:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	10	71905571	.	G	T	195	PASS	TYSND1	trypsin domain containing 1	exonic	NM_001040273,NM_173555	.	missense SNV	TYSND1:NM_001040273:exon1:c.C772A:p.L258M,TYSND1:NM_173555:exon1:c.C772A:p.L258M	ENST00000335494.5,ENST00000287078.6	CpG: 123	10q22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.871,P	0.997,D	0.999909,D	0.004653,N	2.735,M	-0.48,T	6.5777	0.678	0.989	3.424890,23.0	2.61	AC=1;AN=2;BQB=0.953977;DP4=13,3,13,0;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.839255;SF=20;SGB=-0.683931;VDB=0.57684	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:13:228,0,255	.	.	.	.	G	T	0	1	Trypsin domain-containing protein 1	.	.	.	17255948|16128611	.	.	.	.	.	.	.	PM2
L	10	72195063	rs763525961	C	T	222	PASS	NODAL	nodal growth differentiation factor	exonic	NM_018055	.	synonymous SNV	NODAL:NM_018055:exon2:c.G870A:p.P290P	ENST00000287139.3,ENST00000420338.2	.	10q22.1	.	.	.	.	.	rs763525961	.	.	.	.	.	.	5.945e-05	0	.	.	.	.	.	1,D	.	.	.	9.9395	-4.642	-5.273	.	.	AC=1;AN=2;BQB=0.672082;DP4=24,2,20,3;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.834768;SF=20;SGB=-0.692717;VDB=0.481655	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:23:255,0,255	.	.	.	.	C	T	0	1	Heterotaxy, visceral, 5, 270100 (3)	.	.	.	22499809|20508035|19064609|16496285|12730124|12730123|12471260|11703930|11418863|9354794|8614825|8610013|8610012|8429908	.	.	.	KEGG_TGF_BETA_SIGNALING_PATHWAY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_SIGNALING_BY_NODAL	PM2
H	10	73082545	.	A	C	222	PASS	SLC29A3	solute carrier family 29 (equilibrative nucleoside transporter), member 3	exonic	NM_001174098,NM_018344	.	missense SNV	SLC29A3:NM_001174098:exon2:c.A34C:p.S12R,SLC29A3:NM_018344:exon2:c.A34C:p.S12R	ENST00000373189.5	.	10q22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004,D	0.426,B	0.856,P	0.999995,N	0.132200,N	1.905,L	-0.41,T	8.5605	0.966	3.898	3.379149,22.9	4.21	AC=1;AN=2;BQB=0.977416;DP4=26,3,31,3;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977416;SF=20;SGB=-0.693132;VDB=0.349892	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:34:255,0,255	.	.	.	.	A	C	0	1	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)	.	.	.	23530176|22875837|22653152|22238637|22174130|21888995|21178579|20619369|20595384|20140240|19889517|19175903|18947330|18940313|17461801|16650224|16155931|16118898|15701636|9545394	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_VITAMINS_NUCLEOSIDES_AND_RELATED_MOLECULES	PM2
L	10	73464838	.	T	C	222	PASS	CDH23	cadherin-related 23	exonic	NM_001171930,NM_001171931,NM_022124	.	synonymous SNV	CDH23:NM_001171930:exon24:c.T2904C:p.S968S,CDH23:NM_001171931:exon24:c.T2904C:p.S968S,CDH23:NM_022124:exon24:c.T2904C:p.S968S	ENST00000224721.6,ENST00000299366.7	.	10q22.1	.	.	Score=802;Name=V$PAX4_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.441	-1.511	.	.	AC=1;AN=2;BQB=0.971883;DP4=8,12,5,14;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999901;SF=20;SGB=-0.69168;VDB=0.0380303	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	T	C	0	1	Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive 12, 601386 (3); Usher syndrome, type 1D/F digenic, 601067 (3)	.	.	.	23135401|21940737|21228398|20639393|20399731|19270079|17850630|17805295|15829536|15537665|15358736|12910270|12522556|12485990|12407180|12075507|11857743|11138009|11138008|11090341|2706105	REGULATION_OF_BIOLOGICAL_QUALITY;PHOTORECEPTOR_CELL_MAINTENANCE;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;SYSTEM_PROCESS	NON_MEMBRANE_BOUND_ORGANELLE;CELL_PROJECTION;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;MICROVILLUS	.	.	.	.	.	PM2
H	10	75283406	.	T	C	135	PASS	USP54	ubiquitin specific peptidase 54	exonic	NM_152586	.	missense SNV	USP54:NM_152586:exon15:c.A2297G:p.E766G	ENST00000394811.2,ENST00000428547.1,ENST00000408019.1,ENST00000422491.2,ENST00000497106.1,ENST00000339859.4	.	10q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.996,D	1.0,D	1,D	0.000002,U	2.395,M	1.12,T	16.1388	2.205	7.179	6.214352,28.7	5.79	AC=1;AN=2;BQB=0.951579;DP4=12,5,5,1;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.533951;SF=20;SGB=-0.616816;VDB=0.69494	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:6:169,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	10	77198143	.	A	G	222	PASS	C10orf11	chromosome 10 open reading frame 11	splicing	NM_001305581	NM_001305581:exon2:c.31-9A>G	.	.	.	.	10q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.295	2.842776,21.6	.	AC=1;AN=2;BQB=0.786325;DP4=7,3,11,4;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.969326;SF=20;SGB=-0.688148;VDB=0.022033	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:15:255,0,255	.	.	.	.	A	G	0	1	Albinism, oculocutaneous, type VII, 615179 (3)	.	.	.	23395477|19844253	.	.	.	.	.	.	.	PM2
L	10	81318652	rs17886221	T	C	221.5	PASS	SFTPA2	surfactant protein A2	exonic	NM_001098668	.	synonymous SNV	SFTPA2:NM_001098668:exon4:c.A282G:p.R94R	ENST00000372325.2,ENST00000372327.5	.	10q22.3	.	.	.	.	.	rs17886221	.	.	0.0232558	0.0149	0.0225639	0.0204	0.0087	0.0174	0.01914241317	0.0252403793269	.	.	.	.	.	.	.	.	-0.050	-0.048	.	.	AC=4;AN=8;BQB=0.751704;DP4=68,16,61,28;DP=234;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.403455;MQSB=0.809736;RPB=0.751704;SF=4,15,17,20;SGB=-0.692067;VDB=0.921558	GT:DP:DV:PL	.	.	.	.	0/1:42:20:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:44:25:255,0,255	.	0/1:37:18:253,0,255	.	.	0/1:50:26:255,0,255	.	.	.	.	T	C	0	4	Pulmonary fibrosis, idiopathic, 178500 (3)	.	.	.	19100526|11174628|8406480|1372511	.	.	.	.	PID_HNF3APATHWAY	.	.	
H	10	81318681	rs150273659	G	A	222	PASS	SFTPA2	surfactant protein A2	exonic	NM_001098668	.	missense SNV	SFTPA2:NM_001098668:exon4:c.C253T:p.R85C	ENST00000372325.2,ENST00000372327.5	.	10q22.3	.	.	.	.	.	rs150273659	.	.	0.0249169	0.0159	0.00479233	0.0033	0.0030	0.0150	0.0191423750383	0.0252403651442	0.114,T	0.001,B	0.002,B	0.976274,N	0.082360,N	1.945,M	-3.42,D	9.5435	1.329	-0.049	2.047802,16.52	2.87	AC=3;AN=6;BQB=0.481972;DP4=48,24,42,28;DP=188;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.840231;MQSB=0.742935;RPB=0.847141;SF=4,15,20;SGB=-0.69168;VDB=0.679029	GT:DP:DV:PL	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:52:27:255,0,255	.	.	.	.	0/1:51:24:255,0,255	.	.	.	.	G	A	0	3	Pulmonary fibrosis, idiopathic, 178500 (3)	.	.	.	19100526|11174628|8406480|1372511	.	.	.	.	PID_HNF3APATHWAY	.	.	
H	10	90574959	rs570061659	T	C	222	PASS	LIPM	lipase, family member M	exonic	NM_001128215	.	missense SNV	LIPM:NM_001128215:exon5:c.T689C:p.L230S	ENST00000404743.4,ENST00000539337.1	.	10q23.31	.	.	.	.	.	rs570061659	.	.	0.00166113	0.001	0.000199681	.	4.518e-05	0.0016	.	0.00166113	0.256,T	0.215,B	0.386,B	0.964805,N	0.000441,D	0.89,L	-0.57,T	10.4947	2.108	0.068	1.937816,15.82	5.58	AC=1;AN=2;BQB=0.936864;DP4=9,2,10,1;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.676189;VDB=0.373797	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:255,0,255	.	.	.	.	T	C	0	1	Lipase family, member M	.	.	.	17562024	.	.	.	.	.	.	.	
H	10	94834946	rs367762887	A	G	222	PASS	CYP26A1	cytochrome P450, family 26, subfamily A, polypeptide 1	exonic	NM_000783,NM_057157	.	missense SNV	CYP26A1:NM_000783:exon4:c.A746G:p.Q249R,CYP26A1:NM_057157:exon4:c.A539G:p.Q180R	ENST00000394139.1,ENST00000224356.4,ENST00000371531.1	CpG: 173	10q23.33	.	.	Score=965;Name=V$HSF2_01	.	.	rs367762887	.	.	0.0166113	0.0139	0.00279553	7.7e-05	0.0002	0.0022	0.0166113	0.0132211580529	0.236,T	0.005,B	0.0,B	0.976016,N	0.000002,D	0.17,N	-0.43,T	13.9269	2.226	6.153	2.221077,17.65	5.27	AC=1;AN=2;BQB=0.218354;DP4=28,21,37,21;DP=148;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.70398;SF=20;SGB=-0.693147;VDB=0.563404	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:107:58:255,0,255	.	.	.	.	A	G	0	1	Cytochrome p450, subfamily XXVIA, polypeptide 1	.	.	.	19416885|17460545|11953746|9521883|9228017	.	.	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;OXYGEN_BINDING;MONOOXYGENASE_ACTIVITY	KEGG_RETINOL_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	
M	10	95994013	rs532351295	G	A	222	PASS	PLCE1	phospholipase C, epsilon 1	exonic	NM_001165979,NM_001288989,NM_016341	.	missense SNV	PLCE1:NM_001165979:exon5:c.G1234A:p.A412T,PLCE1:NM_001288989:exon6:c.G2158A:p.A720T,PLCE1:NM_016341:exon6:c.G2158A:p.A720T	ENST00000371385.3,ENST00000371375.1,ENST00000371380.3,ENST00000260766.3	.	10q23.33	.	.	Score=781;Name=V$AHRARNT_02	.	.	rs532351295	.	.	0.00166113	0.001	0.000199681	.	8.282e-05	0.0009	0.001531391317	0.00166113	0.26,T	0.044,B	0.113,B	0.651033,N	0.007691,N	0.49,N	1.58,T	6.9752	0.350	1.052	.	.	AC=1;AN=2;BQB=0.917923;DP4=8,8,11,9;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.856249;SF=20;SGB=-0.692067;VDB=0.000328597	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:20:255,0,255	.	.	.	.	G	A	0	1	Nephrotic syndrome, type 3, 610725 (3)	.	.	.	20591883|17086182|16483931|12444546|11877431|11022048|11022047|10819331	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_GROWTH;REGULATION_OF_MUSCLE_CONTRACTION;REGULATION_OF_G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CALCIUM_MEDIATED_SIGNALING;REGULATION_OF_SIGNAL_TRANSDUCTION;ACTIVATION_OF_MAPK_ACTIVITY;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;LIPID_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;CELLULAR_CATION_HOMEOSTASIS;PHOSPHOINOSITIDE_MEDIATED_SIGNALING;GROWTH;PROTEIN_KINASE_CASCADE;REGULATION_OF_MAP_KINASE_ACTIVITY;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_LIPID_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;SMOOTH_MUSCLE_CONTRACTION_GO_0006939;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;ANATOMICAL_STRUCTURE_DEVELOPMENT;CHEMICAL_HOMEOSTASIS;HEART_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;ION_HOMEOSTASIS;CATION_HOMEOSTASIS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;SYSTEM_PROCESS;REGULATION_OF_CELL_GROWTH	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;CELL_FRACTION;CYTOSOL;MEMBRANE_FRACTION;PLASMA_MEMBRANE	LIPASE_ACTIVITY;RAS_GTPASE_BINDING;GTPASE_REGULATOR_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHODIESTERASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;ENZYME_REGULATOR_ACTIVITY;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;PHOSPHOLIPASE_C_ACTIVITY;SMALL_GTPASE_BINDING;PHOSPHOLIPASE_ACTIVITY;GTPASE_BINDING;ENZYME_BINDING;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	PID_RAS_PATHWAY	BIOCARTA_PLCE_PATHWAY	.	
L	10	99225846	rs17112809	C	T	222	PASS	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	exonic	NM_001289403,NM_001289404,NM_001289405,NM_022362	.	missense SNV	MMS19:NM_001289403:exon16:c.G1447A:p.V483I,MMS19:NM_001289404:exon16:c.G1099A:p.V367I,MMS19:NM_022362:exon17:c.G1576A:p.V526I,MMS19:NM_001289405:exon18:c.G1576A:p.V526I	ENST00000327238.10,ENST00000327277.7,ENST00000438925.2,ENST00000355839.6,ENST00000370782.2	.	10q24.1	.	.	.	.	.	rs17112809	.	.	0.0149502	0.0149	0.0429313	0.0402	0.0270	0.0326	0.0206738385911	0.0204327144231	0.333,T	0.034,B	0.155,B	0.99985,P	0.004525,N	0.47,N	-0.12,T	9.6808	-0.226	0.619	.	.	AC=3;AN=6;BQB=0.220736;DP4=50,54,29,45;DP=228;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00406934;SF=0,18,20;SGB=-0.692914;VDB=0.317815	GT:DP:DV:PL	0/1:66:25:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:27:255,0,255	.	0/1:50:22:255,0,255	.	.	.	.	C	T	0	3	MMS19 nucleotide excision repair, S. Cerevisiae, homolog of	.	.	.	22678362|22678361|20797633|16797255|11328871|11279242|11071939	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NUCLEOTIDE_EXCISION_REPAIR;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;NUCLEAR_HORMONE_RECEPTOR_BINDING;RECEPTOR_BINDING;STEROID_HORMONE_RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;HORMONE_RECEPTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
H	10	101579029	rs186422499	A	G	222	PASS	ABCC2	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	splicing	NM_000392	NM_000392:exon19:c.2620+3A>G	.	.	ENST00000370449.4	.	10q24.2	.	.	.	.	.	rs186422499	.	.	0.00166113	0.001	0.000199681	.	0.0002	0.0026	0.001531391317	0.00240384754808	.	.	.	.	.	.	.	.	0.308	2.727	0.924223,10.22	2.83	AC=1;AN=2;BQB=0.989343;DP4=2,5,4,6;DP=23;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.591555;SF=20;SGB=-0.670168;VDB=0.412662	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:10:255,0,192	.	.	.	.	A	G	0	1	Dubin-Johnson syndrome, 237500 (3)	.	.	.	22676135|21044052|12942343|11477083|10053008|9878557|9525973|9434955|9425227|9284939|9038871|8797578|8599091|8235715|5532959	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ORGANIC_ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
H	10	105967431	rs118083279	G	A	103.5	PASS	CFAP43	cilia and flagella associated protein 43	exonic	NM_025145	.	missense SNV	CFAP43:NM_025145:exon6:c.C887T:p.S296L	ENST00000369720.1,ENST00000278064.2,ENST00000428666.1,ENST00000369719.1,ENST00000357060.3	.	10q25.1	.	.	.	.	.	rs118083279	.	.	0.0182724	0.0169	0.00359425	0.0003	0.0025	0.0331	0.0182724	0.0228365177885	0.287,T	0.032,B	0.554,P	1,N	0.010758,N	0.55,N	0.93,T	3.9705	0.298	0.067	1.041501,10.89	2.46	AC=4;AN=8;BQB=0.868321;DP4=19,1,21,4;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.992367;MQSB=1;RPB=0.992367;SF=6,18,20,23;SGB=-0.556411;VDB=0.397076	GT:DP:DV:PL	.	.	.	.	.	.	0/1:8:4:88,0,109	.	.	.	.	.	.	.	.	.	.	.	0/1:9:6:147,0,69	.	0/1:19:12:227,0,179	.	.	0/1:9:3:85,0,182	.	G	A	0	4	.	.	.	.		.	.	.	.	.	.	.	
H	10	106025912	rs201522765	C	T	222	PASS	GSTO1	glutathione S-transferase omega 1	exonic	NM_001191002,NM_001191003,NM_004832	.	missense SNV	GSTO1:NM_001191002:exon4:c.C437T:p.P146L,GSTO1:NM_001191003:exon5:c.C452T:p.P151L,GSTO1:NM_004832:exon5:c.C536T:p.P179L	ENST00000369710.4,ENST00000369713.5,ENST00000539281.1,ENST00000493946.1	.	10q25.1	.	.	Score=735;Name=V$SRF_01	.	.	rs201522765	.	.	0.00166113	0.002	0.000599042	.	0.0007	0.0091	0.00535987915773	0.00240384754808	0.001,D	0.997,D	1.0,D	1,D	0.000007,D	3.355,M	2.09,T	19.0398	2.824	6.570	7.659094,35	5.44	AC=2;AN=4;BQB=1;DP4=10,8,13,8;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.522986;SF=18,20;SGB=-0.680642;VDB=0.0100903	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:255,0,248	.	0/1:16:9:255,0,222	.	.	.	.	C	T	0	2	Glutathione S-transferase, omega-1	.	.	.	22219196|12618591|10783391	.	.	.	KEGG_GLUTATHIONE_METABOLISM;KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450;KEGG_DRUG_METABOLISM_CYTOCHROME_P450	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS;REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_GLUTATHIONE_CONJUGATION;REACTOME_PHASE_II_CONJUGATION	PP3
H	10	114925441	rs138649767	G	A	222	PASS	TCF7L2	transcription factor 7-like 2 (T-cell specific, HMG-box)	exonic	NM_001146274,NM_001146285,NM_001198526,NM_030756	.	missense SNV	TCF7L2:NM_001146285:exon13:c.G1450A:p.A484T,TCF7L2:NM_001198526:exon13:c.G1450A:p.A484T,TCF7L2:NM_001146274:exon14:c.G1519A:p.A507T,TCF7L2:NM_030756:exon14:c.G1501A:p.A501T	ENST00000355717.4,ENST00000545257.1,ENST00000369386.1,ENST00000466338.1,ENST00000543371.1,ENST00000369397.4,ENST00000538897.1,ENST00000355995.4,ENST00000542695.1,ENST00000536810.1	.	10q25.3	.	.	Score=795;Name=V$GFI1_01	.	.	rs138649767	.	.	0.00498339	0.0089	0.00179712	.	0.0012	0.0157	0.00765696745789	0.00600961572115	0.008,D	0.175,B	0.893,P	1,D	0.000106,D	1.355,L	-5.08,D	10.5909	2.417	5.118	3.915723,23.5	4.23	AC=2;AN=4;BQB=0.353395;DP4=88,44,51,59;DP=343;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999758;SF=20,24;SGB=-0.693146;VDB=0.8472	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:85:44:255,0,255	.	.	.	0/1:157:66:255,0,255	G	A	0	2	{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)	.	.	.	21892161|21673050|20889500|20133699|20118932|19718027|19602480|19386626|18097733|18039847|17671651|17609304|17554300|17503332|17470138|17463249|17463248|17463246|17460697|17340123|17293876|17245407|17206141|16855264|16714285|16415884|16007074|15853773|15525634|12851856|12408869|12408868|12048202|10919662|10828605|10485457|10090898|9697701|9065402|9065401|1741298	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_WNT_SIGNALING_PATHWAY;KEGG_ADHERENS_JUNCTION;KEGG_MELANOGENESIS;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_PROSTATE_CANCER;KEGG_THYROID_CANCER;KEGG_BASAL_CELL_CARCINOMA;KEGG_ACUTE_MYELOID_LEUKEMIA;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC	PID_AP1_PATHWAY;PID_BETACATENIN_NUC_PATHWAY	.	.	
H	10	115345564	rs373829826	G	A	222	PASS	HABP2	hyaluronan binding protein 2	exonic	NM_001177660,NM_004132	.	missense SNV	HABP2:NM_001177660:exon12:c.G1307A:p.R436H,HABP2:NM_004132:exon12:c.G1385A:p.R462H	ENST00000351270.3,ENST00000542051.1	.	10q25.3	.	.	Score=783;Name=V$AHR_01	.	.	rs373829826	.	.	.	.	.	7.7e-05	2.473e-05	0.0001	.	.	0.204,T	0.054,B	0.417,B	0.546056,D	0.051152,N	1.365,L	-2.42,D	2.4038	1.562	0.598	2.839190,21.6	4.17	AC=1;AN=2;BQB=0.646902;DP4=15,3,16,2;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.834702;SF=20;SGB=-0.691153;VDB=0.57242	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:18:255,0,255	.	.	.	.	G	A	0	1	{?Thyroid cancer, nonmedullary, 5}, 616535 (3); {Venous thromboembolism, susceptibility to}, 188050 (3)	.	.	.	26581005|26581004|26581003|26581002|26581001|26222560|17145954|15486068|12578864|12138371|11505081|11379758|11217080|9443814|8827452	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	CARBOHYDRATE_BINDING;POLYSACCHARIDE_BINDING;PATTERN_BINDING;GLYCOSAMINOGLYCAN_BINDING	.	.	.	.	
L	10	115451820	.	T	C	222	PASS	CASP7	caspase 7, apoptosis-related cysteine peptidase	exonic	NM_033338	.	synonymous SNV	CASP7:NM_033338:exon2:c.T90C:p.Y30Y	ENST00000369315.1,ENST00000369318.3,ENST00000369331.4,ENST00000345633.4,ENST00000369321.2	.	10q25.3	.	.	.	.	Score=6379;Name="637992:L1PBb(LINE)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.215	.	.	AC=1;AN=2;BQB=0.298197;DP4=10,10,18,6;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.465043;SF=20;SGB=-0.692831;VDB=0.0981581	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:24:255,0,255	.	.	.	.	T	C	0	1	Caspase 7, apoptosis-related cysteine protease	.	.	.	21389984|16469926|12970753|11752425|11709013|11517925|8780721|8755496|8521391	CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;APOPTOTIC_PROGRAM;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;INTRACELLULAR_SIGNALING_CASCADE;APOPTOSIS_GO	ORGANELLE_PART;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE;ENDOPLASMIC_RETICULUM_PART	CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY	KEGG_APOPTOSIS;KEGG_ALZHEIMERS_DISEASE	PID_E2F_PATHWAY;PID_HIVNEFPATHWAY;PID_CASPASE_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	BIOCARTA_DNAFRAGMENT_PATHWAY;BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_BCELLSURVIVAL_PATHWAY;BIOCARTA_CASPASE_PATHWAY;BIOCARTA_FAS_PATHWAY;BIOCARTA_HIVNEF_PATHWAY;BIOCARTA_DEATH_PATHWAY;BIOCARTA_MITOCHONDRIA_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_CASPASE_MEDIATED_CLEAVAGE_OF_CYTOSKELETAL_PROTEINS;REACTOME_APOPTOSIS;REACTOME_INTRINSIC_PATHWAY_FOR_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	PM2
L	10	118231328	rs61729307	A	G	222	PASS	PNLIPRP3	pancreatic lipase-related protein 3	exonic	NM_001011709	.	missense SNV	PNLIPRP3:NM_001011709:exon10:c.A1109G:p.Q370R	ENST00000369230.3	.	10q25.3	.	.	.	.	.	rs61729307	.	.	0.0564784	0.0496	0.0249601	0.0012	0.0197	0.0451	0.0390505188361	0.0432692263221	0.873,T	0.03,B	0.004,B	1,N	0.630994,N	0.985,L	-0.08,T	7.2019	0.687	0.445	.	3	AC=3;AN=6;BQB=0.405301;DP4=37,16,30,15;DP=131;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=8,9,20;SGB=-0.688148;VDB=0.348521	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:31:15:255,0,255	0/1:26:11:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:41:19:255,0,255	.	.	.	.	A	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	10	118364914	rs116840175	G	A	161	PASS	PNLIPRP1	pancreatic lipase-related protein 1	exonic	NM_001303135,NM_006229	.	missense SNV	PNLIPRP1:NM_001303135:exon12:c.G1189A:p.G397S,PNLIPRP1:NM_006229:exon12:c.G1189A:p.G397S	ENST00000358834.4,ENST00000534537.1,ENST00000528052.1	.	10q25.3	.	.	.	.	.	rs116840175	.	.	0.0116279	0.0119	0.00259585	7.7e-05	0.0014	0.0186	0.0116279	0.0120192317308	0.014,D	0.406,B	0.386,B	0.982792,N	0.002819,N	2.71,M	0.8,T	17.2265	2.645	2.702	3.467854,23.0	4.68	AC=1;AN=2;BQB=0.781849;DP4=14,2,6,1;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.799943;SF=20;SGB=-0.636426;VDB=0.0611086	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:7:195,0,255	.	.	.	.	G	A	0	1	Pancreatic lipase-related protein 1	.	.	.	1379598	.	EXTRACELLULAR_REGION	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;CARBOXYLESTERASE_ACTIVITY	KEGG_GLYCEROLIPID_METABOLISM	.	.	.	
H	10	121689160	rs186551854	A	G	222	PASS	SEC23IP	SEC23 interacting protein	exonic	NM_007190	.	missense SNV	SEC23IP:NM_007190:exon14:c.A2355G:p.I785M	ENST00000475542.1,ENST00000369075.3,ENST00000543134.1	.	10q26.11	.	.	.	.	.	rs186551854	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0024	0.0030627880245	0.00332226	0.097,T	0.903,P	0.984,D	0.902558,N	0.001538,N	0.975,L	1.54,T	6.2744	0.950	0.827	1.524421,13.44	3.3	AC=1;AN=2;BQB=0.844049;DP4=10,3,12,2;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.725753;SF=20;SGB=-0.686358;VDB=0.0580568	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	CYTOPLASMIC_PART;CYTOPLASM;ER_GOLGI_INTERMEDIATE_COMPARTMENT	.	.	.	.	.	
H	10	129906832	rs143952665	G	A	228	PASS	MKI67	marker of proliferation Ki-67	exonic	NM_001145966,NM_002417	.	missense SNV	MKI67:NM_001145966:exon12:c.C2192T:p.T731M,MKI67:NM_002417:exon13:c.C3272T:p.T1091M	ENST00000368653.3,ENST00000368654.3	.	10q26.2	.	.	.	.	.	rs143952665	.	.	0.00166113	0.001	0.00199681	7.7e-05	0.0008	0.0003	0.00166113	0.00166113	0.007,D	0.999,D	1.0,D	1,N	.	2.11,M	4.02,T	4.8127	0.081	0.265	2.378466,18.68	.	AC=2;AN=2;DP4=0,0,61,29;DP=108;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.926795	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:90:90:255,255,0	.	.	.	.	G	A	1	0	Proliferation-related Ki-67 antigen	.	.	.	23760480|21524841|9925911|8227122|2571566|1769665	CELL_PROLIFERATION_GO_0008283	.	.	.	.	.	.	
L	10	134997429	rs146849190	G	A	173	PASS	KNDC1	kinase non-catalytic C-lobe domain (KIND) containing 1	exonic	NM_152643	.	synonymous SNV	KNDC1:NM_152643:exon5:c.G561A:p.V187V	ENST00000368571.2,ENST00000368572.2,ENST00000304613.3	.	10q26.3	.	.	.	.	.	rs146849190	.	.	0.0531561	0.0397	0.00838658	.	0.0025	0.0340	0.0336906617152	0.0444711120192	.	.	.	.	.	.	.	.	0.442	-0.018	.	.	AC=2;AN=4;BQB=0.945959;DP4=10,2,13,3;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.135335;SF=18,20;SGB=-0.662043;VDB=0.579238	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:9:232,0,98	.	0/1:14:7:181,0,222	.	.	.	.	G	A	0	2	Kinase noncatalytic C-lobe domain-containing protein 1	.	.	.	17984326|11214970	.	.	.	.	.	.	.	
L	10	135085441	rs375501347	G	A	222	PASS	ADAM8	ADAM metallopeptidase domain 8	exonic	NM_001109,NM_001164489,NM_001164490	.	synonymous SNV	ADAM8:NM_001164490:exon10:c.C858T:p.P286P,ADAM8:NM_001109:exon11:c.C975T:p.P325P,ADAM8:NM_001164489:exon11:c.C975T:p.P325P	ENST00000415217.3,ENST00000445355.3,ENST00000485491.2	.	10q26.3	.	.	.	.	.	rs375501347	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.0003	0.0022	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-0.028	-0.825	1.194529,11.72	.	AC=1;AN=2;BQB=0.544104;DP4=34,18,26,10;DP=118;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0370538;SF=20;SGB=-0.693139;VDB=0.0245161	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:36:255,0,255	.	.	.	.	G	A	0	1	A disintegrin and metalloprotease domain 8	.	.	.	20453887|15580619|9126482|1982220	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_INTEGRIN_A9B1_PATHWAY	.	.	
L	10	135086018	rs375343684	G	A	222	PASS	ADAM8	ADAM metallopeptidase domain 8	exonic	NM_001109,NM_001164489,NM_001164490	.	synonymous SNV	ADAM8:NM_001164490:exon8:c.C660T:p.H220H,ADAM8:NM_001109:exon9:c.C777T:p.H259H,ADAM8:NM_001164489:exon9:c.C777T:p.H259H	ENST00000415217.3,ENST00000445355.3,ENST00000485491.2	.	10q26.3	.	.	Score=824;Name=V$GRE_C	.	.	rs375343684	.	.	0.00332226	0.004	0.000798722	7.7e-05	0.0002	0.0022	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-1.778	-3.273	.	.	AC=1;AN=2;BQB=0.994041;DP4=22,0,21,0;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.245305;SF=20;SGB=-0.692352;VDB=0.186958	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:21:255,0,255	.	.	.	.	G	A	0	1	A disintegrin and metalloprotease domain 8	.	.	.	20453887|15580619|9126482|1982220	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_INTEGRIN_A9B1_PATHWAY	.	.	
L	11	224204	rs12223279	C	T	222	PASS	SIRT3	sirtuin 3	exonic	NM_001017524,NM_012239	.	synonymous SNV	SIRT3:NM_001017524:exon5:c.G417A:p.P139P,SIRT3:NM_012239:exon5:c.G843A:p.P281P	ENST00000529382.1,ENST00000524564.1,ENST00000382743.4,ENST00000532956.1,ENST00000525319.1	.	11p15.5	.	.	.	.	.	rs12223279	.	.	0.0299003	0.0268	0.00579073	.	0.0013	0.0159	0.0183767094334	0.022836516226	.	.	.	.	.	.	.	.	-3.844	-3.317	0.926972,10.24	.	AC=2;AN=4;BQB=0.988524;DP4=20,26,22,26;DP=124;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.137969;SF=17,20;SGB=-0.69168;VDB=0.0129216	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:19:255,0,255	.	.	0/1:57:29:255,0,255	.	.	.	.	C	T	0	2	Sirtuin, S. cerevisiae, homolog 3	.	.	.	21094524|20203611|18794531|17923681|17437997|15676284|12374852|12186850|10619427|10381378|6098447	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_ADP_RIBOSYLATION;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_PENTOSYL_GROUPS	.	PID_HDAC_CLASSIII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	.	.	
H	11	247273	rs762803065	A	T	122	PASS	PSMD13	proteasome 26S subunit, non-ATPase 13	splicing	NM_002817,NM_175932	NM_002817:exon7:c.397-4A>T;NM_175932:exon5:c.403-4A>T	.	.	ENST00000431206.2,ENST00000532097.1,ENST00000352303.5	.	11p15.5	.	.	.	.	.	rs762803065	.	.	.	.	.	.	8.573e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-2.160	-3.439	.	.	AC=1;AN=2;BQB=0.559863;DP4=4,0,5,1;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1.00775;MQSB=1;RPB=0.559863;SF=20;SGB=-0.616816;VDB=0.0732611	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:6:155,0,131	.	.	.	.	A	T	0	1	Proteasome 26S subunit, non-ATPase, 13	.	.	.	10225435|9714768	.	PROTEASOME_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	KEGG_PROTEASOME	.	.	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	
L	11	499071	rs369312738	G	A	222	PASS	RNH1	ribonuclease/angiogenin inhibitor 1	exonic	NM_002939,NM_203383,NM_203384,NM_203385,NM_203386,NM_203387,NM_203388,NM_203389	.	synonymous SNV	RNH1:NM_203384:exon5:c.C558T:p.G186G,RNH1:NM_203385:exon5:c.C558T:p.G186G,RNH1:NM_203388:exon5:c.C558T:p.G186G,RNH1:NM_203389:exon5:c.C558T:p.G186G,RNH1:NM_002939:exon6:c.C558T:p.G186G,RNH1:NM_203383:exon6:c.C558T:p.G186G,RNH1:NM_203386:exon6:c.C558T:p.G186G,RNH1:NM_203387:exon6:c.C558T:p.G186G	ENST00000397604.3,ENST00000354420.2,ENST00000533410.1,ENST00000534797.1,ENST00000397614.1,ENST00000356187.5,ENST00000397615.2,ENST00000438658.2	.	11p15.5	.	.	.	.	.	rs369312738	.	.	0	0.001	0.000199681	.	0.0002	0.0021	.	.	.	.	.	.	.	.	.	.	-0.202	-0.966	0.940461,10.32	.	AC=1;AN=2;BQB=0.398079;DP4=40,17,31,34;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.903067;SF=20;SGB=-0.693147;VDB=0.32812	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:122:65:255,0,255	.	.	.	.	G	A	0	1	Ribonuclease/angiogenin inhibitor 1	.	.	.	23624614|22162762|21276451|17292889|15277533|3219362|2276743|2081593	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;ANGIOGENESIS;REGULATION_OF_ANGIOGENESIS;VASCULATURE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	.	.	.	
H	11	587372	rs151190592	A	G	222	PASS	PHRF1	PHD and ring finger domains 1	exonic	NM_001286581,NM_001286582,NM_001286583,NM_020901	.	missense SNV	PHRF1:NM_001286581:exon4:c.A328G:p.I110V,PHRF1:NM_001286582:exon4:c.A325G:p.I109V,PHRF1:NM_001286583:exon4:c.A316G:p.I106V,PHRF1:NM_020901:exon4:c.A328G:p.I110V	ENST00000264555.5,ENST00000533464.1,ENST00000413872.2,ENST00000416188.2	.	11p15.5	.	.	.	.	.	rs151190592	.	.	0.0149502	0.0169	0.00359425	.	0.0011	0.0144	0.0107197691271	0.0149502	0.013,D	0.997,D	0.999,D	0.999975,D	0.002078,N	2.005,M	-1.07,T	13.3444	1.792	8.885	3.941319,23.5	4.81	AC=1;AN=2;BQB=0.985665;DP4=11,11,10,7;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.705371;SF=20;SGB=-0.690438;VDB=0.0344761	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:17:255,0,255	.	.	.	.	A	G	0	1	KIAA1542 gene	.	.	.	10819331	.	.	.	.	.	.	.	
L	11	608593	rs149443419	G	A	222	PASS	PHRF1	PHD and ring finger domains 1	exonic	NM_001286581,NM_001286582,NM_001286583,NM_020901	.	missense SNV	PHRF1:NM_001286581:exon14:c.G3137A:p.R1046Q,PHRF1:NM_001286582:exon14:c.G3131A:p.R1044Q,PHRF1:NM_001286583:exon14:c.G3125A:p.R1042Q,PHRF1:NM_020901:exon14:c.G3134A:p.R1045Q	ENST00000264555.5,ENST00000533464.1,ENST00000413872.2,ENST00000416188.2	.	11p15.5	.	.	Score=789;Name=V$MYOGNF1_01	.	.	rs149443419	.	.	0.0215947	0.0218	0.0373403	0.0298	0.0393	0.0180	0.0145482475651	0.0215947	0.219,T	0.021,B	0.098,B	1,N	0.154597,N	1.225,L	1.02,T	5.2777	-0.109	-0.124	3.453087,23.0	.	AC=1;AN=2;BQB=0.659241;DP4=16,5,15,5;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.540981;SF=20;SGB=-0.692067;VDB=0.855995	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:20:255,0,255	.	.	.	.	G	A	0	1	KIAA1542 gene	.	.	.	10819331	.	.	.	.	.	.	.	
L	11	674638	rs35303725	C	T	222	PASS	DEAF1	DEAF1 transcription factor	exonic	NM_001293634,NM_021008	.	synonymous SNV	DEAF1:NM_001293634:exon8:c.G1134A:p.A378A,DEAF1:NM_021008:exon10:c.G1401A:p.A467A	ENST00000338675.6,ENST00000382409.3,ENST00000527799.1,ENST00000525904.1	.	11p15.5	.	.	.	.	.	rs35303725	.	.	0.0182724	0.0198	0.0205671	0.0120	0.0207	0.0156	0.0130168351608	0.0182724	.	.	.	.	.	.	.	.	-1.529	-3.889	1.251523,12.02	.	AC=1;AN=2;BQB=0.465898;DP4=25,5,21,3;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.860415;SF=20;SGB=-0.692831;VDB=0.0399093	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:24:255,0,255	.	.	.	.	C	T	0	1	Mental retardation, autosomal dominant 24, 615828 (3)	.	.	.	24726472|24668509|23846693|23020937|22442688|21076407|15161925|9417089	RNA_METABOLIC_PROCESS;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;GAMETE_GENERATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;SEXUAL_REPRODUCTION;RNA_BIOSYNTHETIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REPRODUCTION	NUCLEUS	.	.	.	.	.	
H	11	823799	rs200088893	C	G	222	PASS	PNPLA2	patatin-like phospholipase domain containing 2	exonic	NM_020376	.	missense SNV	PNPLA2:NM_020376:exon7:c.C863G:p.S288W	ENST00000336615.4,ENST00000528982.1,ENST00000532946.1	CpG: 108	11p15.5	.	.	.	.	.	rs200088893	.	.	0.0166113	0.0119	0.00239617	7.7e-05	0.0018	0.0217	0.00995405822358	0.0144230794471	0.024,D	0.652,P	0.993,D	1,N	0.159655,N	0.345,N	-1.02,T	3.9069	-0.646	-0.972	3.384414,23.0	.	AC=1;AN=2;BQB=0.999065;DP4=17,31,12,21;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0435123;SF=20;SGB=-0.693127;VDB=0.0146985	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:33:255,0,255	.	.	.	.	C	G	0	1	Neutral lipid storage disease with myopathy, 610717 (3)	.	.	.	22832386|21857651|21680814|21544567|21393244|17657808|17187067|15550674|15364929|15337759	.	.	.	.	.	.	REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
H	11	1075690	rs572842326	C	T	222	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon2:c.C116T:p.T39I	ENST00000359061.5,ENST00000441003.2	.	11p15.5	.	.	.	.	.	rs572842326	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0021	0.00166113	0.00166113	0.012,D	0.993,D	0.999,D	0.994966,D	0.000003,D	2.595,M	0.48,T	16.2959	1.840	6.009	4.537732,24.3	4.1	AC=1;AN=2;BQB=0.397005;DP4=46,11,56,10;DP=177;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0542455;SF=20;SGB=-0.693147;VDB=0.00704998	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:123:66:255,0,255	.	.	.	.	C	T	0	1	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PP3
L	11	1093354	rs56290335	T	A	108.19	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon30:c.T5173A:p.S1725T	ENST00000361558.6,ENST00000359061.5,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	Score=404;Name="672031:C-rich(Low_complexity)"	rs56290335	.	.	.	.	.	.	0.0038	0.0118	.	0.0217391	0.0,D	0.0,B	0.0,B	1,N	0.126050,U	.	3.42,T	3.3544	-2.490	-0.518	.	.	AC=15;AN=30;BQB=0.986924;DP4=292,200,161,66;DP=1123;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=0.835108;MQSB=0.033156;RPB=0.53437;SF=1,2,3,4,5,7,11,13,14,16,17,20,21,23,24;SGB=-0.686358;VDB=0.998872	GT:DP:DV:PL	.	0/1:36:14:192,0,241	0/1:34:12:162,0,242	0/1:23:7:83,0,197	0/1:30:10:131,0,249	0/1:78:18:145,0,255	.	0/1:46:11:70,0,255	.	.	.	0/1:42:15:135,0,255	.	0/1:62:20:193,0,255	0/1:46:16:177,0,247	.	0/1:35:8:73,0,255	0/1:22:7:67,0,235	.	.	0/1:45:12:131,0,255	0/1:64:29:255,0,255	.	0/1:92:28:167,0,255	0/1:64:20:150,0,255	T	A	0	15	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1093430	rs199573018	C	G	169.2	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon30:c.C5249G:p.T1750S	ENST00000361558.6,ENST00000359061.5,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	Score=404;Name="672031:C-rich(Low_complexity)"	rs199573018	.	.	.	.	.	.	0.0003	0.0082	.	0.00434783	0.0,D	0.001,B	0.001,B	1,N	0.001164,U	.	2.81,T	6.4546	-0.510	2.067	.	.	AC=1,23;AN=48;BQB=0.839878;DP4=772,390,427,70;DP=2544;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.455796;MQSB=0.0249488;RPB=0.791193;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.690438;VDB=0.216676	GT:DP:DV:PL	0/2:67:17:219,.,.,0,.,255	0/2:57:21:255,.,.,0,.,255	0/2:61:20:255,.,.,0,.,255	0/2:56:16:180,.,.,0,.,255	0/2:39:8:85,.,.,0,.,255	0/2:132:38:255,.,.,0,.,255	0/2:52:15:209,.,.,0,.,255	0/2:69:18:172,.,.,0,.,255	0/1:40:24:255,0,220,.,.,.	.	0/2:61:31:240,.,.,0,.,255	0/2:58:21:255,.,.,0,.,255	0/2:59:9:74,.,.,0,.,255	0/2:102:35:255,.,.,0,.,255	0/2:80:24:255,.,.,0,.,255	0/2:44:10:125,.,.,0,.,255	0/2:44:11:159,.,.,0,.,255	0/2:40:12:184,.,.,0,.,255	0/2:42:6:84,.,.,0,.,255	0/2:63:14:163,.,.,0,.,255	0/2:76:26:255,.,.,0,.,255	0/2:124:32:246,.,.,0,.,255	0/2:46:16:201,.,.,0,.,255	0/2:134:43:255,.,.,0,.,255	0/2:113:30:237,.,.,0,.,255	C	G,A	0	24	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1093541	.	G	T	182	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon30:c.G5360T:p.S1787I	ENST00000361558.6,ENST00000359061.5,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	Score=314;Name="672032:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.0,B	0.0,B	1,N	0.991201,U	.	3.03,T	4.3795	0.114	0.261	.	.	AC=1;AN=2;BQB=0.999797;DP4=51,21,8,10;DP=129;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.454492;MQSB=0.773058;RPB=0.0560357;SF=20;SGB=-0.691153;VDB=0.0239927	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:90:18:217,0,255	.	.	.	.	G	T	0	1	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1093575	rs201450769	G	C	109.86	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	synonymous SNV	MUC2:NM_002457:exon30:c.G5394C:p.T1798T	ENST00000361558.6,ENST00000359061.5,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	.	rs201450769	.	.	.	.	.	.	0.0318	0.0284	.	0.0434783	.	.	.	.	.	.	.	.	-0.712	-3.015	.	.	AC=18;AN=36;BQB=0.946262;DP4=1296,313,147,157;DP=2601;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.98004;MQSB=0.598509;RPB=0.000690217;SF=1,2,3,4,5,7,10,11,13,14,16,17,18,19,20,22,23,24;SGB=-0.680642;VDB=0.000258629	GT:DP:DV:PL	.	0/1:78:12:129,0,255	0/1:108:17:139,0,255	0/1:90:12:82,0,255	0/1:87:12:92,0,255	0/1:183:30:177,0,255	.	0/1:120:20:106,0,255	.	.	0/1:83:11:124,0,255	0/1:85:11:97,0,255	.	0/1:149:19:103,0,255	0/1:123:24:248,0,255	.	0/1:94:12:136,0,255	0/1:66:11:131,0,255	0/1:66:9:114,0,255	0/1:104:13:105,0,255	0/1:106:17:169,0,255	.	0/1:54:11:180,0,255	0/1:175:35:236,0,255	0/1:142:28:255,0,255	G	C	0	18	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1093582	rs55641679	G	C	137.67	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	missense SNV	MUC2:NM_002457:exon30:c.G5401C:p.A1801P	ENST00000361558.6,ENST00000359061.5,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	.	rs55641679	.	.	.	.	.	.	0.0422	0.0250	.	0.0434783	0.0,D	0.0,B	0.0,B	1,N	0.121877,U	.	3.24,T	1.8833	-3.045	-1.455	.	.	AC=19;AN=38;BQB=0.985711;DP4=1470,293,154,212;DP=2826;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.405161;MQSB=0.218826;RPB=0.0131617;SF=1,2,3,4,5,7,10,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.052684	GT:DP:DV:PL	.	0/1:76:15:174,0,255	0/1:113:21:190,0,255	0/1:85:15:154,0,255	0/1:92:15:171,0,255	0/1:186:36:255,0,255	.	0/1:122:20:131,0,255	.	.	0/1:90:13:160,0,255	.	.	0/1:160:20:92,0,255	0/1:126:23:253,0,255	0/1:69:11:121,0,255	0/1:100:12:122,0,255	0/1:64:10:140,0,255	0/1:73:11:127,0,255	0/1:105:18:199,0,255	0/1:105:18:205,0,255	0/1:184:26:81,0,255	0/1:53:12:206,0,255	0/1:176:38:255,0,255	0/1:150:32:255,0,255	G	C	0	19	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1094735	rs369131915	C	T	205	PASS	MUC2	mucin 2, oligomeric mucus/gel-forming	exonic	NM_002457	.	synonymous SNV	MUC2:NM_002457:exon32:c.C5811T:p.T1937T	ENST00000361558.6,ENST00000441003.2,ENST00000333592.6	.	11p15.5	.	.	.	.	.	rs369131915	.	.	0.00332226	0.004	0.000798722	.	0.0001	0.0016	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	0.455	0.040	.	.	AC=2;AN=4;BQB=0.489126;DP4=46,8,24,8;DP=131;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.984159;SF=12,20;SGB=-0.686358;VDB=0.0806772	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:14:223,0,255	.	.	.	.	.	.	.	0/1:45:18:255,0,255	.	.	.	.	C	T	0	2	Mucin 2, intestinal/tracheal	.	.	.	24072822|17058067|16754877|15081123|11872843|10636731|9722984|8975711|7864825|2703501|2265829|1985113|1980995|1885763	DIGESTION;SYSTEM_PROCESS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	STRUCTURAL_MOLECULE_ACTIVITY;EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT	KEGG_VIBRIO_CHOLERAE_INFECTION	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1155657	rs192181365	C	T	222	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000356191.2	CpG: 34	11p15.5	.	.	.	.	.	rs192181365	.	.	0.00830565	0.0089	0.00179712	.	0.0003	0.0032	0.00830565	0.00830565	.	.	.	.	.	.	.	.	-0.802	-2.144	.	.	AC=1;AN=2;BQB=0.665126;DP4=15,17,22,14;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.679846;SF=20;SGB=-0.693139;VDB=0.103706	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:36:255,0,255	.	.	.	.	C	T	0	1	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1212858	rs74811639	C	A	68.02	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs74811639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	-4.949	.	.	AC=10;AN=20;BQB=1.55122e-06;DP4=5749,2930,1178,631;DP=16857;HOB=0.5;ICB=1;MQ0F=0;MQ=39;MQB=0.171326;MQSB=0.0344609;RPB=2.48334e-05;SF=1,2,5,6,8,9,12,16,19,20;SGB=-0.693147;VDB=1.06829e-28	GT:DP:DV:PL	.	0/1:961:154:82,0,255	0/1:1079:191:60,0,255	.	.	0/1:1678:299:186,0,255	0/1:944:171:109,0,255	.	0/1:816:136:70,0,255	0/1:781:129:57,0,255	.	.	0/1:904:150:72,0,255	.	.	.	0/1:1030:189:161,0,255	.	.	0/1:1106:186:163,0,255	0/1:1189:204:79,0,255	.	.	.	.	C	A	0	10	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1212864	rs796069032	C	T	158	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs796069032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.389	-0.652	.	.	AC=24;AN=48;BQB=4.28727e-08;DP4=13156,6643,4109,1959;DP=42722;HOB=0.5;ICB=1;MQ0F=0;MQ=39;MQB=1.93588e-07;MQSB=0.000521348;RPB=0.76406;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=3.53543e-35	GT:DP:DV:PL	0/1:1056:241:217,0,255	0/1:978:240:209,0,255	.	0/1:961:230:103,0,255	0/1:863:210:112,0,255	0/1:1719:372:187,0,255	0/1:979:223:255,0,255	0/1:1122:263:97,0,255	0/1:856:203:151,0,255	0/1:803:188:250,0,255	0/1:880:207:217,0,255	0/1:959:246:255,0,255	0/1:905:223:255,0,255	0/1:1543:370:148,0,255	0/1:1214:299:255,0,255	0/1:938:244:255,0,255	0/1:1075:261:249,0,255	0/1:680:167:187,0,255	0/1:888:214:216,0,255	0/1:1127:264:184,0,255	0/1:1221:262:100,0,255	0/1:1422:332:181,0,255	0/1:388:85:113,0,255	0/1:1555:346:185,0,255	0/1:1735:378:246,0,255	C	T	0	24	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1212870	rs79862170	C	T	222	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs79862170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.337	-2.092	.	.	AC=25;AN=50;BQB=0.0197018;DP4=10478,5200,7018,3636;DP=45430;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=1.91082e-06;MQSB=0.00190803;RPB=4.73845e-10;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=7.48256e-32	GT:DP:DV:PL	0/1:1014:458:255,0,255	0/1:975:381:255,0,255	0/1:1086:416:255,0,255	0/1:913:384:255,0,255	0/1:843:340:255,0,255	0/1:1684:690:255,0,255	0/1:951:399:255,0,255	0/1:1100:416:255,0,255	0/1:836:329:255,0,255	0/1:793:324:255,0,255	0/1:863:340:255,0,255	0/1:932:352:255,0,255	0/1:875:384:255,0,255	0/1:1514:546:255,0,255	0/1:1183:511:255,0,255	0/1:904:351:255,0,255	0/1:1029:437:255,0,255	0/1:667:266:255,0,255	0/1:860:303:255,0,255	0/1:1116:433:255,0,255	0/1:1203:491:255,0,255	0/1:1393:545:255,0,255	0/1:374:149:255,0,255	0/1:1525:639:255,0,255	0/1:1699:770:255,0,255	C	T	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1212871	rs75826663	T	C	158.04	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs75826663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.755	-6.666	.	.	AC=25;AN=50;BQB=1.75614e-09;DP4=11073,6996,6091,2554;DP=45745;HOB=0.5;ICB=1;MQ0F=0;MQ=39;MQB=2.20916e-10;MQSB=0.0158454;RPB=0.897509;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.28126e-08	GT:DP:DV:PL	0/1:1048:358:255,0,255	0/1:978:324:168,0,255	0/1:1094:323:113,0,255	0/1:927:341:205,0,255	0/1:859:274:118,0,255	0/1:1717:536:91,0,255	0/1:945:356:255,0,255	0/1:1122:353:186,0,255	0/1:857:247:239,0,255	0/1:803:263:255,0,255	0/1:876:277:189,0,255	0/1:948:288:147,0,255	0/1:891:313:255,0,255	0/1:1554:441:146,0,255	0/1:1197:412:255,0,255	0/1:916:326:255,0,255	0/1:1047:361:255,0,255	0/1:688:213:192,0,255	0/1:875:267:188,0,255	0/1:1123:342:113,0,255	0/1:1211:403:179,0,255	0/1:1392:443:159,0,255	0/1:386:153:198,0,255	0/1:1563:470:159,0,255	0/1:1697:561:255,0,255	T	C	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1212877	rs36195734	A	G	221.96	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs36195734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.556	-0.966	.	.	AC=25;AN=50;BQB=0.00349042;DP4=11037,5620,7772,3761;DP=49989;HOB=0.5;ICB=1;MQ0F=0;MQ=39;MQB=0.00471021;MQSB=0.0270255;RPB=0.0336009;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=9.61263e-21	GT:DP:DV:PL	0/1:1096:427:255,0,255	0/1:1053:431:255,0,255	0/1:1178:511:255,0,255	0/1:989:355:255,0,255	0/1:902:379:255,0,255	0/1:1816:711:255,0,255	0/1:1001:397:255,0,255	0/1:1157:511:255,0,255	0/1:887:389:255,0,255	0/1:833:334:255,0,255	0/1:919:349:255,0,255	0/1:992:434:255,0,255	0/1:944:365:255,0,255	0/1:1636:779:255,0,255	0/1:1263:506:255,0,255	0/1:959:381:255,0,255	0/1:1110:445:255,0,255	0/1:725:302:255,0,255	0/1:924:406:255,0,255	0/1:1166:482:255,0,255	0/1:1264:524:255,0,255	0/1:1470:644:255,0,255	0/1:431:110:255,0,255	0/1:1662:681:255,0,255	0/1:1813:680:255,0,255	A	G	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	11	1212967	rs148720899	T	C	205.92	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs148720899	.	.	.	.	.	.	0.0013	0.0016	.	.	.	.	.	.	.	.	.	.	-1.571	-3.388	.	.	AC=25;AN=50;BQB=4.99401e-07;DP4=6171,6466,3095,3435;DP=28646;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=6.4423e-24;MQSB=0.576741;RPB=0.270036;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.44082e-14	GT:DP:DV:PL	0/1:793:252:199,0,255	0/1:701:271:255,0,255	0/1:774:281:255,0,255	0/1:658:199:233,0,255	0/1:591:200:255,0,255	0/1:1189:457:255,0,255	0/1:738:227:204,0,255	0/1:787:282:248,0,255	0/1:582:202:255,0,255	0/1:574:191:255,0,255	0/1:594:209:204,0,255	0/1:676:209:255,0,255	0/1:666:192:178,0,255	0/1:1149:393:255,0,255	0/1:894:297:255,0,255	0/1:637:227:255,0,255	0/1:752:243:255,0,255	0/1:494:156:162,0,255	0/1:583:194:255,0,255	0/1:797:299:255,0,255	0/1:891:274:254,0,255	0/1:991:319:238,0,255	0/1:258:101:255,0,255	0/1:1107:436:255,0,255	0/1:1291:419:255,0,255	T	C	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1212973	rs79228823	G	A	222	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	Score=244;Name="672126:(CCA)n(Simple_repeat)"	rs79228823	.	.	.	.	.	.	0.0007	0.0016	0.00142045	.	.	.	.	.	.	.	.	.	-1.263	-0.337	.	.	AC=25;AN=50;BQB=0.00339116;DP4=5785,4485,3862,4206;DP=26872;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=2.07934e-17;MQSB=0.748219;RPB=3.11103e-18;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=6.05528e-22	GT:DP:DV:PL	0/1:751:331:255,0,255	0/1:656:291:255,0,255	0/1:761:326:255,0,255	0/1:638:273:255,0,255	0/1:552:248:255,0,255	0/1:1153:545:255,0,255	0/1:706:299:255,0,255	0/1:759:328:255,0,255	0/1:557:252:255,0,255	0/1:547:246:255,0,255	0/1:568:281:255,0,255	0/1:643:263:255,0,255	0/1:619:239:255,0,255	0/1:1096:457:255,0,255	0/1:873:374:255,0,255	0/1:626:289:255,0,255	0/1:703:309:255,0,255	0/1:483:201:255,0,255	0/1:543:228:255,0,255	0/1:742:339:255,0,255	0/1:851:362:255,0,255	0/1:949:395:255,0,255	0/1:237:121:255,0,255	0/1:1054:507:255,0,255	0/1:1271:564:255,0,255	G	A	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213047	rs28764936	T	C	106.18	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs28764936	.	.	.	.	.	.	0.0417	0.0259	.	0.00434783	.	.	.	.	.	.	.	.	0.166	-4.135	.	2.33	AC=17;AN=34;BQB=0.368848;DP4=3028,1716,706,830;DP=9958;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=7.01958e-23;MQSB=0.00553925;RPB=0.278716;SF=0,1,2,3,4,5,6,9,12,13,14,16,19,20,22,23,24;SGB=-0.693147;VDB=1.54856e-06	GT:DP:DV:PL	0/1:345:93:108,0,255	0/1:336:70:124,0,255	0/1:365:81:136,0,255	0/1:290:125:255,0,255	0/1:264:57:57,0,255	0/1:552:129:99,0,255	0/1:353:80:79,0,255	.	.	0/1:271:58:65,0,255	.	.	0/1:342:73:83,0,255	0/1:536:116:114,0,255	0/1:428:116:150,0,255	.	0/1:319:71:142,0,255	.	.	0/1:347:79:171,0,255	0/1:387:83:95,0,255	.	0/1:128:35:223,0,255	0/1:489:130:255,0,255	0/1:528:140:250,0,255	T	C	0	17	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213111	rs201423830	C	G	94.85	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs201423830	.	.	.	.	.	.	6.068e-05	0	.	.	.	.	.	.	.	.	.	.	-0.779	-2.992	.	.	AC=19;AN=38;BQB=0.614466;DP4=3727,3322,1706,380;DP=12614;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=0.553712;MQSB=6.19889e-10;RPB=4.68377e-38;SF=2,3,5,6,8,9,10,11,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	.	.	0/1:479:109:163,0,255	0/1:393:89:153,0,255	.	0/1:726:161:117,0,255	0/1:452:95:90,0,255	.	0/1:375:91:175,0,255	0/1:345:72:139,0,255	0/1:397:104:221,0,255	0/1:422:94:80,0,255	.	0/1:633:127:115,0,255	0/1:584:166:209,0,255	0/1:373:79:170,0,255	0/1:433:104:108,0,255	.	0/1:375:80:81,0,255	0/1:461:109:112,0,255	0/1:499:116:115,0,255	0/1:629:146:109,0,255	0/1:164:30:82,0,255	0/1:662:160:156,0,255	0/1:733:154:70,0,255	C	G	0	19	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	11	1213118	rs74979352	C	G	78.8	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs74979352	.	.	.	.	.	.	2.604e-05	0	.	.	.	.	.	.	.	.	.	.	-0.153	-0.468	.	.	AC=11;AN=22;BQB=0.786487;DP4=2610,2263,1099,144;DP=7998;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.151957;MQSB=2.18037e-08;RPB=1.09399e-18;SF=2,3,5,6,8,9,10,14,16,20,23;SGB=-0.693147;VDB=0	GT:DP:DV:PL	.	.	0/1:566:106:91,0,255	0/1:461:91:101,0,255	.	0/1:818:166:128,0,255	0/1:509:93:82,0,255	.	0/1:431:89:74,0,255	0/1:405:72:90,0,255	0/1:491:102:90,0,255	.	.	.	0/1:648:170:255,0,255	.	0/1:509:100:95,0,255	.	.	.	0/1:556:100:73,0,255	.	.	0/1:722:154:172,0,255	.	C	G	0	11	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	11	1213135	rs75319504	C	T	155.71	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs75319504	.	.	.	.	.	.	3.691e-05	0	.	.	.	.	.	.	.	.	.	.	0.126	-0.161	.	.	AC=24;AN=48;BQB=0.912001;DP4=5082,3984,2546,309;DP=15653;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.999129;MQSB=0.00759827;RPB=9.78846e-06;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=6.7328e-15	GT:DP:DV:PL	0/1:437:87:108,0,255	0/1:458:95:142,0,255	0/1:507:127:126,0,255	0/1:435:105:217,0,255	0/1:401:96:148,0,255	0/1:766:195:255,0,255	0/1:446:108:254,0,255	0/1:512:105:122,0,255	0/1:399:104:240,0,255	0/1:365:83:198,0,255	0/1:461:119:171,0,255	0/1:440:96:175,0,255	0/1:448:91:60,0,255	0/1:694:167:255,0,255	0/1:614:192:255,0,255	0/1:408:88:186,0,255	0/1:459:116:213,0,255	.	0/1:409:82:135,0,255	0/1:503:119:202,0,255	0/1:508:110:255,0,255	0/1:687:177:245,0,255	0/1:189:38:165,0,255	0/1:666:182:227,0,255	0/1:709:173:209,0,255	C	T	0	24	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	11	1213143	rs765843853	T	C	112.3	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs765843853	.	.	.	.	.	.	1.303e-05	0	.	.	.	.	.	.	.	.	.	.	-1.341	-1.014	.	.	AC=23;AN=46;BQB=0.304233;DP4=6086,3079,1254,954;DP=15074;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.526002;MQSB=0.0156528;RPB=4.66913e-18;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=7.56963e-26	GT:DP:DV:PL	0/1:449:89:162,0,255	0/1:463:92:89,0,255	0/1:508:89:87,0,255	.	0/1:410:88:130,0,255	0/1:763:142:236,0,255	0/1:451:72:116,0,255	0/1:514:124:255,0,255	0/1:410:78:149,0,255	0/1:366:65:178,0,255	0/1:470:101:127,0,255	0/1:443:94:131,0,255	0/1:454:84:112,0,255	0/1:702:132:122,0,255	.	0/1:414:81:162,0,255	0/1:464:96:231,0,255	0/1:349:77:197,0,255	0/1:408:91:198,0,255	0/1:520:101:117,0,255	0/1:518:110:145,0,255	0/1:711:147:94,0,255	0/1:193:34:95,0,255	0/1:669:99:101,0,255	0/1:724:122:159,0,255	T	C	0	23	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	11	1213209	rs377214284	T	C	209.24	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs377214284	.	.	.	.	.	.	0.0028	0.0012	0.03125	0.117391	.	.	.	.	.	.	.	.	-1.891	-1.826	.	.	AC=25;AN=50;BQB=0.857737;DP4=6534,3116,1972,1170;DP=17269;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0439207;MQSB=0.562599;RPB=0.812534;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00494865	GT:DP:DV:PL	0/1:453:118:255,0,255	0/1:456:121:255,0,255	0/1:523:121:255,0,255	0/1:485:121:255,0,255	0/1:447:119:204,0,255	0/1:740:167:255,0,255	0/1:464:103:180,0,255	0/1:565:159:255,0,255	0/1:412:107:255,0,255	0/1:391:94:255,0,255	0/1:486:124:255,0,255	0/1:470:117:255,0,255	0/1:468:115:252,0,255	0/1:677:159:238,0,255	0/1:660:130:249,0,255	0/1:448:117:255,0,255	0/1:474:118:255,0,255	0/1:363:100:255,0,255	0/1:456:127:255,0,255	0/1:576:144:222,0,255	0/1:559:145:255,0,255	0/1:738:192:255,0,255	0/1:182:52:255,0,255	0/1:614:118:155,0,255	0/1:685:154:255,0,255	T	C	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213210	rs760860269	G	A	206.8	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs760860269	.	.	.	.	.	.	0.0027	0.0016	0.03125	0.117391	.	.	.	.	.	.	.	.	-1.337	-2.355	.	.	AC=25;AN=50;BQB=0.438537;DP4=6644,3090,1945,1172;DP=17229;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0561592;MQSB=0.50638;RPB=0.828288;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00181215	GT:DP:DV:PL	0/1:453:116:255,0,255	0/1:458:123:255,0,255	0/1:521:118:201,0,255	0/1:489:118:255,0,255	0/1:459:117:255,0,255	0/1:740:166:255,0,255	0/1:468:103:255,0,255	0/1:565:157:255,0,255	0/1:421:105:240,0,255	0/1:393:94:255,0,255	0/1:490:125:255,0,255	0/1:469:118:255,0,255	0/1:467:113:233,0,255	0/1:672:154:250,0,255	0/1:659:128:130,0,255	0/1:447:116:255,0,255	0/1:480:120:255,0,255	0/1:362:98:255,0,255	0/1:462:124:255,0,255	0/1:585:142:255,0,255	0/1:567:144:255,0,255	0/1:745:195:255,0,255	0/1:182:52:255,0,255	0/1:610:116:193,0,255	0/1:687:155:194,0,255	G	A	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213256	rs370028072	C	T	167.21	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs370028072	.	.	.	.	.	.	0.0079	0.0065	0.00710227	0.234783	.	.	.	.	.	.	.	.	0.258	0.293	.	.	AC=24;AN=48;BQB=0.41501;DP4=5105,3498,1344,1041;DP=14542;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.940155;MQSB=0.906921;RPB=0.0536719;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000712338	GT:DP:DV:PL	0/1:398:84:251,0,255	0/1:427:97:229,0,255	0/1:457:89:171,0,255	0/1:466:102:223,0,255	0/1:392:75:115,0,255	0/1:620:114:199,0,255	0/1:432:83:108,0,255	0/1:500:105:236,0,255	0/1:390:90:244,0,255	0/1:355:86:255,0,255	0/1:447:104:210,0,255	0/1:454:106:243,0,255	0/1:445:99:237,0,255	0/1:595:113:213,0,255	.	0/1:399:96:237,0,255	0/1:419:90:179,0,255	0/1:341:87:255,0,255	0/1:407:101:255,0,255	0/1:549:108:163,0,255	0/1:493:101:91,0,255	0/1:660:158:126,0,255	0/1:177:46:255,0,255	0/1:567:122:181,0,255	0/1:598:129:172,0,255	C	T	0	24	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213275	rs71251383	G	A	86.25	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs71251383	.	.	.	.	.	.	0.0019	0.0038	0.00710227	0.104348	.	.	.	.	.	.	.	.	0.204	-0.639	0.897991,10.06	.	AC=7;AN=14;BQB=0.0896686;DP4=1539,1134,339,187;DP=4428;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.400556;MQSB=0.944931;RPB=0.918569;SF=0,11,13,14,20,22,23;SGB=-0.693147;VDB=5.3376e-05	GT:DP:DV:PL	0/1:404:60:70,0,255	.	.	.	.	.	.	.	.	.	.	0/1:451:64:94,0,255	.	0/1:570:80:126,0,255	0/1:575:134:255,0,255	.	.	.	.	.	0/1:475:72:91,0,255	.	0/1:176:25:97,0,255	0/1:548:91:122,0,255	.	G	A	0	7	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1213287	rs112774721	G	A	213.12	PASS	MUC5AC	mucin 5AC, oligomeric mucus/gel-forming	exonic	NM_001304359	.	unknown	UNKNOWN	ENST00000358378.6	.	11p15.5	.	.	.	.	.	rs112774721	.	.	.	.	.	.	0.0329	0.0228	0.0767045	0.234783	.	.	.	.	.	.	.	.	0.244	-2.381	.	.	AC=25;AN=50;BQB=0.359595;DP4=4651,3709,1610,1099;DP=14838;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.902913;MQSB=0.917013;RPB=0.280311;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.803539	GT:DP:DV:PL	0/1:392:99:255,0,255	0/1:389:94:255,0,255	0/1:457:102:221,0,255	0/1:449:113:255,0,255	0/1:382:87:215,0,255	0/1:589:137:255,0,255	0/1:399:96:255,0,255	0/1:487:108:224,0,255	0/1:382:98:255,0,255	0/1:321:84:255,0,255	0/1:424:111:255,0,255	0/1:445:120:255,0,255	0/1:426:106:255,0,255	0/1:557:128:248,0,255	0/1:574:109:232,0,255	0/1:362:93:255,0,255	0/1:405:101:255,0,255	0/1:324:89:255,0,255	0/1:393:105:255,0,255	0/1:541:124:207,0,255	0/1:445:105:255,0,255	0/1:652:170:255,0,255	0/1:172:50:255,0,255	0/1:531:138:255,0,255	0/1:571:142:248,0,255	G	A	0	25	Mucin 5, subtypes A and C, tracheobronchial/gastric	.	.	.	24975020|24317696|21502330|17058067|16647036|9536947|7864825|7826332|7649560|7513696|2265829	EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1268340	rs368194612	A	T	79.08	PASS	MUC5B	mucin 5B, oligomeric mucus/gel-forming	exonic	NM_002458	.	synonymous SNV	MUC5B:NM_002458:exon31:c.A10230T:p.P3410P	ENST00000532061.2,ENST00000529681.1,ENST00000447027.1	.	11p15.5	.	.	.	Score=0.984354;Name=chr11:1263917	Score=242;Name="672160:(CCA)n(Simple_repeat)"	rs368194612	.	.	.	.	.	.	0.0057	0.0437	.	0.113043	.	.	.	.	.	.	.	.	-0.279	-1.273	.	.	AC=10;AN=20;BQB=0.998538;DP4=265,158,124,26;DP=828;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=8.11078e-06;MQSB=0.999896;RPB=0.0437031;SF=4,5,6,7,11,12,13,14,20,22;SGB=-0.692067;VDB=0.108963	GT:DP:DV:PL	.	.	.	.	0/1:40:20:255,0,255	0/1:122:24:64,0,255	0/1:35:16:214,0,255	0/1:58:18:116,0,255	.	.	.	0/1:35:10:97,0,255	0/1:52:12:69,0,255	0/1:70:16:87,0,255	0/1:58:11:59,0,255	.	.	.	.	.	0/1:56:14:119,0,255	.	0/1:47:9:61,0,255	.	.	A	T	0	10	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)	.	.	.	24317696|23692170|21506748|21506741|17058067|11158014|9804771|9201995|9164870|9013550|8554565|7649560	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1272038	rs201521453	C	T	222	PASS	MUC5B	mucin 5B, oligomeric mucus/gel-forming	exonic	NM_002458	.	missense SNV	MUC5B:NM_002458:exon31:c.C13928T:p.P4643L	ENST00000529681.1,ENST00000447027.1	.	11p15.5	.	.	.	.	Score=207;Name="672162:(CCA)n(Simple_repeat)"	rs201521453	.	.	0.00166113	0.005	0.000998403	0.0002	0.0006	0.0023	.	0.00166113	0.752,T	0.017,B	0.596,P	1,N	.	1.935,L	2.13,T	3.8951	-0.158	-1.242	.	.	AC=1;AN=2;BQB=0.321623;DP4=20,12,19,8;DP=75;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.947905;MQSB=0.277468;RPB=0.927502;SF=20;SGB=-0.693021;VDB=0.325823	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:27:255,0,255	.	.	.	.	C	T	0	1	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)	.	.	.	24317696|23692170|21506748|21506741|17058067|11158014|9804771|9201995|9164870|9013550|8554565|7649560	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	11	1272527	rs202131299	C	T	222	PASS	MUC5B	mucin 5B, oligomeric mucus/gel-forming	exonic	NM_002458	.	missense SNV	MUC5B:NM_002458:exon31:c.C14417T:p.T4806M	ENST00000529681.1,ENST00000447027.1	.	11p15.5	.	.	.	.	.	rs202131299	.	.	0.0166113	0.0119	0.00279553	0.0005	0.0020	0.0228	0.0168453557427	0.0180288408654	0.0,D	0.01,B	0.063,B	1,N	.	0.755,N	1.55,T	7.696	-2.403	-1.313	.	.	AC=2;AN=4;BQB=0.32068;DP4=63,56,63,57;DP=314;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.929842;SF=17,20;SGB=-0.693147;VDB=0.0812932	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:50:255,0,255	.	.	0/1:140:70:255,0,255	.	.	.	.	C	T	0	2	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)	.	.	.	24317696|23692170|21506748|21506741|17058067|11158014|9804771|9201995|9164870|9013550|8554565|7649560	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	11	1471849	rs368815640	C	T	222	PASS	BRSK2	BR serine/threonine kinase 2	exonic	NM_001256627,NM_001256629,NM_001256630,NM_001282218,NM_003957	.	synonymous SNV	BRSK2:NM_001256627:exon14:c.C1320T:p.P440P,BRSK2:NM_001256629:exon14:c.C1320T:p.P440P,BRSK2:NM_001256630:exon14:c.C1458T:p.P486P,BRSK2:NM_001282218:exon14:c.C1140T:p.P380P,BRSK2:NM_003957:exon14:c.C1320T:p.P440P	ENST00000308219.9,ENST00000528710.1,ENST00000382179.1,ENST00000531197.1,ENST00000528841.1,ENST00000544817.1,ENST00000308230.5,ENST00000526678.1	.	11p15.5	.	.	Score=917;Name=V$NFKAPPAB_01	.	.	rs368815640	.	.	.	.	.	0.0002	0.0001	0	.	.	.	.	.	.	.	.	.	.	0.838	0.937	1.699642,14.41	2.36	AC=1;AN=2;BQB=0.887561;DP4=24,8,20,4;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995078;SF=20;SGB=-0.692831;VDB=0.485711	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:24:255,0,255	.	.	.	.	C	T	0	1	BR serine/threonine kinase 2	.	.	.	15705853|15150265|9929968|9852686	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CELL_POLARITY;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;ION_BINDING;MAGNESIUM_ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	PID_LKB1_PATHWAY	.	.	PM2
L	11	1606156	rs143475966	G	A	76.86	PASS	KRTAP5-1	keratin associated protein 5-1	exonic	NM_001005922	.	synonymous SNV	KRTAP5-1:NM_001005922:exon1:c.C324T:p.G108G	ENST00000424148.1,ENST00000534077.1,ENST00000382171.2,ENST00000532922.1,ENST00000524947.1	.	11p15.5	.	.	.	.	.	rs143475966	.	.	.	.	.	.	.	.	0.00142045	.	.	.	.	.	.	.	.	.	1.563	1.702	.	3.57	AC=9;AN=18;BQB=0.562066;DP4=33,86,1,68;DP=271;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.27354;MQSB=0.911765;RPB=0.00489748;SF=0,5,9,12,13,15,17,19,20;SGB=-0.651104;VDB=0.191859	GT:DP:DV:PL	0/1:19:8:128,0,163	.	.	.	.	0/1:33:15:150,0,255	.	.	.	0/1:13:9:144,0,64	.	.	0/1:14:5:86,0,161	0/1:22:9:127,0,214	.	0/1:23:6:92,0,255	.	0/1:18:5:88,0,198	.	0/1:17:7:121,0,174	0/1:29:5:58,0,255	.	.	.	.	G	A	0	9	Keratin associated protein 5-1	.	.	.	1724400	.	.	.	.	.	.	.	PM2
L	11	1651643	rs4752771	C	T	176	PASS	KRTAP5-5	keratin associated protein 5-5	exonic	NM_001001480	.	synonymous SNV	KRTAP5-5:NM_001001480:exon1:c.C573T:p.P191P	ENST00000399676.2	.	11p15.5	.	.	.	.	.	rs4752771	.	.	.	.	.	.	0.0004	0.0018	0.0355114	0.0130435	.	.	.	.	.	.	.	.	0.015	2.214	.	.	AC=20;AN=40;BQB=0.00589045;DP4=1100,418,414,256;DP=2910;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0785626;MQSB=0.990563;RPB=4.80836e-15;SF=0,2,3,4,5,7,8,9,11,12,13,14,15,16,17,19,20,21,22,23;SGB=-0.693147;VDB=2.22027e-28	GT:DP:DV:PL	0/1:94:58:255,0,255	.	0/1:132:32:217,0,255	0/1:88:19:178,0,255	0/1:74:14:102,0,255	0/1:151:92:255,0,255	.	0/1:119:24:151,0,255	0/1:106:24:145,0,255	0/1:74:45:255,0,255	.	0/1:99:24:178,0,255	0/1:97:24:230,0,255	0/1:149:34:235,0,255	0/1:127:34:255,0,255	0/1:98:21:170,0,255	0/1:111:31:248,0,255	0/1:85:23:255,0,255	.	0/1:80:45:255,0,255	0/1:119:34:255,0,255	0/1:181:43:194,0,255	0/1:42:14:228,0,255	0/1:162:35:145,0,255	.	C	T	0	20	.	.	.	.		.	.	.	.	.	.	.	
H	11	3381273	.	G	A	20.89	PASS	ZNF195	zinc finger protein 195	exonic	NM_001130519,NM_001130520,NM_001242841,NM_001242842,NM_001242843,NM_001256824,NM_001256825,NM_007152	.	missense SNV	ZNF195:NM_007152:exon4:c.C749T:p.A250V,ZNF195:NM_001130519:exon5:c.C896T:p.A299V,ZNF195:NM_001242843:exon5:c.C761T:p.A254V,ZNF195:NM_001256825:exon5:c.C761T:p.A254V,ZNF195:NM_001130520:exon6:c.C965T:p.A322V,ZNF195:NM_001242841:exon6:c.C908T:p.A303V,ZNF195:NM_001242842:exon6:c.C830T:p.A277V,ZNF195:NM_001256824:exon6:c.C854T:p.A285V	ENST00000429541.2,ENST00000526601.1,ENST00000438262.2,ENST00000528796.1,ENST00000399602.4,ENST00000343338.7,ENST00000354599.6,ENST00000005082.9	.	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.023,B	0.03,B	1,N	.	0.755,N	0.19,T	7.1643	0.638	1.496	1.980859,16.09	.	AC=1;AN=2;BQB=0.375;DP4=11,5,2,0;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.5625;SF=20;SGB=-0.453602;VDB=0.76	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:2:57,0,255	.	.	.	.	G	A	0	1	Zinc finger protein-195	.	.	.	9344677|7959730	.	.	.	.	.	.	.	PM2
L	11	5020933	rs61729748	A	T	222	PASS	OR51L1	olfactory receptor, family 51, subfamily L, member 1	exonic	NM_001004755	.	missense SNV	OR51L1:NM_001004755:exon1:c.A721T:p.N241Y	ENST00000321543.1	.	11p15.4	.	.	Score=886;Name=V$E47_02	.	.	rs61729748	.	.	0.0232558	0.0228	0.0289537	0.0186	0.0302	0.0196	0.0160796250536	0.0204326882212	0.0,D	0.999,D	1.0,D	0.992715,N	0.000301,D	2.6,M	8.7,T	14.4424	2.277	0.750	4.722281,24.6	5.43	AC=2;AN=4;BQB=0.642423;DP4=19,14,24,8;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.521607;SF=4,20;SGB=-0.691153;VDB=0.638458	GT:DP:DV:PL	.	.	.	.	0/1:31:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:14:255,0,255	.	.	.	.	A	T	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	PP3
H	11	5344848	rs761315295	G	A	222	PASS	OR51B2	olfactory receptor, family 51, subfamily B, member 2 (gene/pseudogene)	exonic	NM_033180	.	missense SNV	OR51B2:NM_033180:exon1:c.C680T:p.A227V	ENST00000328813.2,ENST00000380237.1,ENST00000380259.2,ENST00000380252.1	.	11p15.4	.	.	.	.	.	rs761315295	.	.	.	.	.	.	1.653e-05	0.0002	.	.	0.004,D	0.344,B	0.432,B	0.995304,D	0.167307,U	2.605,M	1.12,T	15.6201	2.246	2.538	4.799117,24.8	4.27	AC=1;AN=2;BQB=0.783465;DP4=9,8,10,5;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.730199;SF=20;SGB=-0.688148;VDB=0.523807	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:15:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
M	11	5510460	rs142777568	G	A	222	PASS	OR52D1	olfactory receptor, family 52, subfamily D, member 1	exonic	NM_001005163	.	missense SNV	OR52D1:NM_001005163:exon1:c.G524A:p.R175H	ENST00000380237.1,ENST00000380259.2,ENST00000322641.5,ENST00000380252.1,ENST00000415970.1	.	11p15.4	.	.	.	.	.	rs142777568	.	.	.	.	.	7.7e-05	5.768e-05	0.0002	0.00142045	.	0.724,T	0.003,B	0.001,B	1,N	0.502742,N	0.34,N	8.72,T	21.5206	-2.215	-3.243	.	.	AC=1;AN=2;BQB=0.99308;DP4=17,7,14,6;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.704639;SF=20;SGB=-0.692067;VDB=0.179355	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:20:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	11	6591306	rs200088426	C	T	222	PASS	DNHD1	dynein heavy chain domain 1	exonic	NM_144666	.	missense SNV	DNHD1:NM_144666:exon40:c.C12931T:p.R4311C	ENST00000254579.6,ENST00000527990.2	.	11p15.4	.	.	.	.	.	rs200088426	.	.	.	.	.	0.0011	0.0011	0	0.00142045	.	0.181,T	0.289,B	0.66,P	1,N	0.557867,N	0.345,N	3.08,T	1.4437	-0.226	-1.076	3.602744,23.2	.	AC=1;AN=2;BQB=0.706448;DP4=22,16,18,17;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.808792;SF=20;SGB=-0.693136;VDB=0.142744	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:35:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	11	6806358	rs573023932	A	T	222	PASS	OR2AG1	olfactory receptor, family 2, subfamily AG, member 1 (gene/pseudogene)	exonic	NM_001004489	.	synonymous SNV	OR2AG1:NM_001004489:exon1:c.A90T:p.T30T	ENST00000307401.4	.	11p15.4	.	.	.	.	.	rs573023932	.	.	0	0.001	0.000199681	.	9.888e-05	0.0013	0.00142045	.	.	.	.	.	.	.	.	.	0.250	-1.065	.	.	AC=1;AN=2;BQB=0.778674;DP4=25,10,20,3;DP=84;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.514779;SF=20;SGB=-0.692717;VDB=0.677093	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:23:255,0,255	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	11	6806781	rs201093839	C	A	222	PASS	OR2AG1	olfactory receptor, family 2, subfamily AG, member 1 (gene/pseudogene)	exonic	NM_001004489	.	synonymous SNV	OR2AG1:NM_001004489:exon1:c.C513A:p.A171A	ENST00000307401.4	.	11p15.4	.	.	.	.	.	rs201093839	.	.	0.00332226	0.002	0.000399361	.	0.0003	0.0036	0.00229708830015	0.00332226	.	.	.	.	.	.	.	.	0.169	-0.908	.	.	AC=1;AN=2;BQB=0.195692;DP4=40,15,33,11;DP=142;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.873045;SF=20;SGB=-0.693146;VDB=0.568739	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:44:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	11	10597887	rs552025202	C	G	201	PASS	MRVI1	murine retrovirus integration site 1 homolog	exonic	NM_001098579,NM_001100163,NM_001100167,NM_001206880,NM_001206881,NM_130385	.	missense SNV	MRVI1:NM_001206881:exon19:c.G1786C:p.E596Q,MRVI1:NM_001098579:exon20:c.G2707C:p.E903Q,MRVI1:NM_001206880:exon20:c.G2113C:p.E705Q,MRVI1:NM_001100163:exon21:c.G2458C:p.E820Q,MRVI1:NM_001100167:exon21:c.G1786C:p.E596Q,MRVI1:NM_130385:exon21:c.G2731C:p.E911Q	ENST00000531107.1,ENST00000423302.2,ENST00000558540.1,ENST00000527509.2,ENST00000529829.1,ENST00000552103.1,ENST00000421747.1,ENST00000531706.1,ENST00000529979.1,ENST00000547195.1,ENST00000534266.2,ENST00000436272.1,ENST00000424001.1,ENST00000541483.1,ENST00000545852.1	.	11p15.4	.	.	.	.	.	rs552025202	.	.	0.00166113	0.003	0.000599042	.	0.0001	0.0015	0.00166113	0.00166113	0.0,D	0.998,D	1.0,D	0.980969,D	0.000025,D	1.645,L	2.33,T	17.8936	2.757	5.017	5.757402,27.0	5.82	AC=1;AN=2;BQB=0.872112;DP4=7,4,10,2;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992453;SF=20;SGB=-0.680642;VDB=0.189099	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:234,0,255	.	.	.	.	C	G	0	1	Murine retrovirus integration site 1, homolog of	.	.	.	10724174	.	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	.	KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION	.	.	REACTOME_CGMP_EFFECTS;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	
M	11	12315175	rs148792670	G	A	222	PASS	MICALCL	MICAL C-terminal like	exonic	NM_032867	.	missense SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	ENST00000256186.2	.	11p15.3	.	.	.	.	.	rs148792670	.	.	0.0232558	0.0298	0.00998403	0.0046	0.0073	0.0242	0.0160796250536	0.0192307585337	0.673,T	0.0,B	0.0,B	1,N	0.530288,N	-0.69,N	3.36,T	7.3598	-0.778	-0.015	.	.	AC=3;AN=6;BQB=0.999556;DP4=86,19,81,17;DP=283;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.623696;SF=1,16,20;SGB=-0.693079;VDB=0.174008	GT:DP:DV:PL	.	0/1:70:29:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:36:255,0,255	.	.	.	0/1:66:33:255,0,255	.	.	.	.	G	A	0	3	MICAL C terminus-like protein	.	.	.	18241670	.	.	.	.	.	.	.	
L	11	13032022	rs763260519	A	C	222	PASS	RASSF10	Ras association (RalGDS/AF-6) domain family (N-terminal) member 10	exonic	NM_001080521	.	missense SNV	RASSF10:NM_001080521:exon1:c.A899C:p.E300A	.	CpG: 209	11p15.2	.	.	.	.	Score=186;Name="692588:(CGG)n(Simple_repeat)"	rs763260519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.300	-1.113	.	.	AC=1;AN=2;BQB=0.951474;DP4=45,16,26,16;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.430356;SF=20;SGB=-0.693146;VDB=0.718947	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:103:42:255,0,255	.	.	.	.	A	C	0	1	Ras association domain family, member 10	.	.	.	20956940|19570220|18272789	.	.	.	.	.	.	.	PM2
H	11	13391317	rs572822300	A	G	222	PASS	ARNTL	aryl hydrocarbon receptor nuclear translocator-like	splicing	NM_001030272,NM_001030273,NM_001178,NM_001297719,NM_001297722,NM_001297724	NM_001030272:exon11:c.820+3A>G;NM_001030273:exon12:c.691+3A>G;NM_001178:exon12:c.820+3A>G;NM_001297719:exon12:c.820+3A>G;NM_001297722:exon11:c.820+3A>G;NM_001297724:exon12:c.691+3A>G	.	.	ENST00000403510.3,ENST00000389707.4,ENST00000403290.1,ENST00000396441.3,ENST00000401424.1,ENST00000389708.3,ENST00000403482.3,ENST00000361003.4,ENST00000497429.1	.	11p15.2	.	.	.	.	.	rs572822300	.	.	0.00332226	0.002	0.000399361	.	7.444e-05	0.0010	0.00332226	0.00332226	.	.	.	.	.	.	.	.	2.007	6.844	1.740354,14.64	5.01	AC=1;AN=2;BQB=0.156944;DP4=10,6,9,2;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.863017;SF=20;SGB=-0.676189;VDB=0.32632	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:11:255,0,255	.	.	.	.	A	G	0	1	Aryl hydrocarbon receptor nuclear translocator-like	.	.	.	24737000|24385426|23970558|22936566|22460952|22080954|21960634|20562852|18497298|18075593|17476214|17124323|16925591|16847346|16777965|16606840|16109848|16093318|15665827|15315827|12897057|12483227|12015603|11441147|11441146|11163178|10807566|9616122|9616112|9585435|9144434|9079689|1623525	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;RHYTHMIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;CIRCADIAN_RHYTHM;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	.	KEGG_CIRCADIAN_RHYTHM_MAMMAL	PID_CIRCADIANPATHWAY	.	REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_CIRCADIAN_REPRESSION_OF_EXPRESSION_BY_REV_ERBA;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CIRCADIAN_CLOCK	
L	11	14535162	rs184210551	T	C	222	PASS	PSMA1	proteasome subunit alpha 1	exonic	NM_002786,NM_148976	.	synonymous SNV	PSMA1:NM_002786:exon7:c.A498G:p.Q166Q,PSMA1:NM_148976:exon8:c.A516G:p.Q172Q	ENST00000419365.2,ENST00000530457.1,ENST00000555531.1,ENST00000396393.1,ENST00000396394.2,ENST00000418988.2	.	11p15.2	.	.	.	.	.	rs184210551	.	.	0.00332226	0.004	0.000998403	.	0.0002	0.0017	0.00332226	0.00332226	1.0,T	.	.	1,D	.	.	0.85,T	19.7619	-3.010	-1.033	.	.	AC=1;AN=2;BQB=0.439649;DP4=9,0,13,2;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.892456;SF=20;SGB=-0.688148;VDB=0.0188569	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:15:255,0,213	.	.	.	.	T	C	0	1	Proteasome subunit, alpha-type, 1	.	.	.	8811196|7681138|1888762	.	RIBONUCLEOPROTEIN_COMPLEX;NUCLEUS;MACROMOLECULAR_COMPLEX	RNA_BINDING	KEGG_PROTEASOME	.	BIOCARTA_PROTEASOME_PATHWAY	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	
H	11	17632828	rs11024341	C	T	222	PASS	OTOG	otogelin	exonic	NM_001277269,NM_001292063	.	missense SNV	OTOG:NM_001277269:exon35:c.C6017T:p.A2006V,OTOG:NM_001292063:exon36:c.C5981T:p.A1994V	ENST00000399397.1,ENST00000342528.2,ENST00000399391.2	.	11p15.1	.	.	.	.	.	rs11024341	.	.	0.00166113	0.003	0.000599042	.	.	.	.	0.00166113	0.072,T	0.783,P	0.971,D	1,N	0.440069,N	1.39,L	2.34,T	1.3796	0.350	0.475	.	.	AC=1;AN=2;BQB=0.0710574;DP4=16,9,22,10;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.124227;SF=20;SGB=-0.69312;VDB=0.630205	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:32:255,0,255	.	.	.	.	C	T	0	1	Deafness, autosomal recessive 18B, 614945 (3)	.	.	.	23122587|10655058|10337628|9405633|8128966	.	.	.	.	.	.	.	
H	11	17650852	rs544487442	A	G	24.06	PASS	OTOG	otogelin	exonic	NM_001277269,NM_001292063	.	missense SNV	OTOG:NM_001277269:exon39:c.A6737G:p.H2246R,OTOG:NM_001292063:exon40:c.A6701G:p.H2234R	ENST00000399397.1,ENST00000342528.2,ENST00000399391.2	.	11p15.1	.	.	Score=822;Name=V$HNF4_01	.	.	rs544487442	.	.	0.00166113	0.003	0.000599042	.	.	.	.	0.00166113	0.373,T	0.0,B	0.0,B	0.999993,N	0.218061,N	-2.38,N	0.41,T	3.6312	0.632	1.133	1.247391,11.99	3.64	AC=1;AN=2;BQB=0.4;DP4=7,8,2,0;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.453602;VDB=0.86	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:2:60,0,255	.	.	.	.	A	G	0	1	Deafness, autosomal recessive 18B, 614945 (3)	.	.	.	23122587|10655058|10337628|9405633|8128966	.	.	.	.	.	.	.	
H	11	18363125	.	A	G	222	PASS	GTF2H1	general transcription factor IIH, polypeptide 1, 62kDa	exonic	NM_001142307,NM_005316	.	missense SNV	GTF2H1:NM_005316:exon7:c.A808G:p.T270A,GTF2H1:NM_001142307:exon8:c.A808G:p.T270A	ENST00000524753.4,ENST00000265963.4,ENST00000453096.2,ENST00000534641.1	.	11p15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184,T	0.055,B	0.042,B	0.98566,D	0.000123,D	1.995,M	1.46,T	14.7578	1.906	4.995	1.432711,12.96	5.03	AC=1;AN=2;BQB=0.284466;DP4=8,4,4,18;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.116844;SF=20;SGB=-0.692562;VDB=0.0669707	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:22:255,0,255	.	.	.	.	A	G	0	1	General transcription factor IIH, polypeptide 1 (62kD subunit)	.	.	.	15220921|12453423|12393803|11089979|10993082|9118947|8855246|8162052|7789978|7533895|1733973|1495560	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_MOLECULAR_FUNCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_RNA_POL_I_TRANSCRIPTION_TERMINATION;REACTOME_RNA_POL_I_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_CAPPING;REACTOME_TRANSCRIPTION_COUPLED_NER_TC_NER;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_MRNA_PROCESSING;REACTOME_TRANSCRIPTION;REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX_;REACTOME_FORMATION_OF_TRANSCRIPTION_COUPLED_NER_TC_NER_REPAIR_COMPLEX;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_DNA_REPAIR;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_FORMATION_OF_THE_HIV1_EARLY_ELONGATION_COMPLEX;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE;REACTOME_RNA_POL_I_TRANSCRIPTION_INITIATION	PM2
H	11	20117210	rs150276360	A	G	209.67	PASS	NAV2	neuron navigator 2	splicing	NM_001111018,NM_001111019,NM_001244963,NM_145117,NM_182964	NM_001111018:exon30:c.5725-8A>G;NM_001111019:exon20:c.3109-8A>G;NM_001244963:exon32:c.6094-8A>G;NM_145117:exon30:c.5917-8A>G;NM_182964:exon30:c.5926-8A>G	.	.	ENST00000311043.8,ENST00000533917.1,ENST00000527559.2,ENST00000349880.4,ENST00000396087.3,ENST00000360655.4,ENST00000540292.1,ENST00000396085.1	.	11p15.1	.	.	Score=932;Name=V$HOXA3_01	.	.	rs150276360	.	.	0.0232558	0.0188	0.00539137	0.0013	0.0030	0.0169	0.011485442879	0.0180288371394	.	.	.	.	.	.	.	.	0.434	-0.053	1.608671,13.90	.	AC=3;AN=6;BQB=0.84472;DP4=51,7,48,10;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875173;SF=3,19,20;SGB=-0.651104;VDB=0.0633369	GT:DP:DV:PL	.	.	.	0/1:23:8:219,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:20:255,0,255	0/1:55:30:255,0,255	.	.	.	.	A	G	0	3	Neuron navigator 2	.	.	.	12079279|12062803|11904404|10718198	.	.	.	.	.	.	.	
M	11	28135080	rs141648004	A	G	192.33	PASS	METTL15	methyltransferase like 15	exonic	NM_001113528,NM_001297775,NM_152636	.	missense SNV	METTL15:NM_001113528:exon3:c.A199G:p.T67A,METTL15:NM_001297775:exon3:c.A199G:p.T67A,METTL15:NM_152636:exon3:c.A199G:p.T67A	ENST00000379199.2,ENST00000342303.5,ENST00000303459.6,ENST00000406787.3,ENST00000403099.1,ENST00000407364.3	.	11p14.1	.	.	.	.	.	rs141648004	.	.	0.0465116	0.0427	0.0091853	0.0003	0.0026	0.0339	0.0465116	0.0408653764423	0.383,T	0.002,B	0.001,B	1,N	0.442213,N	-0.97,N	1.11,T	5.9709	0.814	0.445	.	2.68	AC=4;AN=6;BQB=0.982301;DP4=11,2,30,6;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.769203;MQSB=0.524801;RPB=0.751477;SF=1,11,20;SGB=-0.686358;VDB=0.717994	GT:DP:DV:PL	.	0/1:23:14:235,0,210	.	.	.	.	.	.	.	.	.	1/1:15:15:255,45,0	.	.	.	.	.	.	.	.	0/1:11:7:180,0,128	.	.	.	.	A	G	1	2	.	.	.	.		.	.	.	.	.	.	.	
L	11	44073200	rs11037843	C	T	222	PASS	ACCSL	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	splicing	NM_001031854	NM_001031854:exon5:c.706-3C>T	.	.	ENST00000378832.1	.	11p11.2	.	.	Score=906;Name=V$MYOD_01	.	.	rs11037843	.	.	0.0282392	0.0407	0.0125799	0.0008	0.0066	0.0339	0.0229708973966	0.0216346145433	.	.	.	.	.	.	.	.	1.080	1.424	1.466472,13.14	3.67	AC=1;AN=2;BQB=0.993488;DP4=24,8,26,11;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.866444;SF=20;SGB=-0.693141;VDB=0.0934882	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:69:37:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	11	44074303	rs77666758	G	A	222	PASS	ACCSL	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	exonic	NM_001031854	.	synonymous SNV	ACCSL:NM_001031854:exon6:c.G864A:p.E288E	ENST00000378832.1	.	11p11.2	.	.	.	.	.	rs77666758	.	.	0.0299003	0.0417	0.0163738	0.0059	0.0104	0.0354	0.0260336905054	0.022836516226	.	.	.	.	.	.	.	.	-0.072	-0.490	.	.	AC=1;AN=2;BQB=0.916147;DP4=5,8,7,10;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.872109;SF=20;SGB=-0.690438;VDB=0.30061	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:17:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	11	45274031	rs200496973	C	A	222	PASS	SYT13	synaptotagmin XIII	exonic	NM_001247987,NM_020826	.	missense SNV	SYT13:NM_020826:exon4:c.G787T:p.D263Y,SYT13:NM_001247987:exon6:c.G355T:p.D119Y	ENST00000020926.3	.	11p11.2	.	.	.	.	.	rs200496973	.	.	0.00166113	0.001	0.000199681	.	5.891e-05	0.0008	0.00166113	0.00166113	0.006,D	0.509,P	0.823,P	0.944756,D	0.000031,D	1.1,L	3.11,T	12.8851	0.804	2.642	4.931471,25.0	3.98	AC=1;AN=2;BQB=0.729641;DP4=19,3,22,5;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.59738;SF=20;SGB=-0.693021;VDB=0.177368	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:27:255,0,255	.	.	.	.	C	A	0	1	Synaptotagmin 13	.	.	.	11543631|11171101|10718198	.	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;CYTOPLASMIC_VESICLE;TRANSPORT_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE	.	.	.	.	.	
H	11	48146657	.	G	A	222	PASS	PTPRJ	protein tyrosine phosphatase, receptor type, J	exonic	NM_001098503,NM_002843	.	missense SNV	PTPRJ:NM_001098503:exon6:c.G1012A:p.G338S,PTPRJ:NM_002843:exon6:c.G1012A:p.G338S	ENST00000418331.2,ENST00000440289.2	.	11p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089,T	0.474,P	0.768,P	1,N	.	1.59,L	3.2,T	8.3638	-0.197	0.341	.	.	AC=1;AN=2;BQB=0.945959;DP4=12,8,12,3;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.716432;SF=20;SGB=-0.688148;VDB=0.175799	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:15:255,0,255	.	.	.	.	G	A	0	1	Colon cancer, somatic, 114500 (3)	.	.	.	16000320|12089527|8575779|7994032|7937872	ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;DEPHOSPHORYLATION;CELL_CELL_SIGNALING;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PROTEIN_TYROSINE_PHOSPHATASE_ACTIVITY;PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_ADHERENS_JUNCTION	PID_MET_PATHWAY;PID_PDGFRBPATHWAY;PID_VEGFR1_2_PATHWAY	.	.	PM2
H	11	55371059	rs187050403	G	T	222	PASS	OR4C11	olfactory receptor, family 4, subfamily C, member 11	exonic	NM_001004700	.	missense SNV	OR4C11:NM_001004700:exon1:c.C791A:p.P264H	ENST00000302231.4	.	11q11	.	.	.	.	.	rs187050403	.	.	0.00166113	0.001	0.000199681	.	0.0003	0.0048	0.00306278537519	0.00166113	0.0,D	0.025,B	0.025,B	1,N	0.035527,U	1.69,L	8.77,T	15.9533	2.425	0.382	1.299580,12.27	4.34	AC=1;AN=2;BQB=0.321417;DP4=13,4,6,7;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.973855;SF=20;SGB=-0.683931;VDB=0.819708	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:13:255,0,255	.	.	.	.	G	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	11	57313729	.	T	C	222	PASS	SMTNL1	smoothelin-like 1	exonic	NM_001105565	.	missense SNV	SMTNL1:NM_001105565:exon5:c.T1097C:p.L366S	ENST00000457912.1,ENST00000399154.2,ENST00000527972.1	.	11q12.1	.	.	Score=763;Name=V$PAX5_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052,T	0.689,P	0.94,P	0.911784,N	0.023931,U	0.695,N	-3.17,D	13.5355	2.040	0.079	5.145630,25.4	4.84	AC=1;AN=2;BQB=0.938651;DP4=5,6,10,4;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.96323;SF=20;SGB=-0.686358;VDB=0.723817	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:14:255,0,255	.	.	.	.	T	C	0	1	Smoothelin-like 1	.	.	.	20634291|18310078|15327999	.	.	.	.	.	.	.	PM2
L	11	57958553	rs550186058	G	A	222	PASS	OR9Q2	olfactory receptor, family 9, subfamily Q, member 2	exonic	NM_001005283	.	synonymous SNV	OR9Q2:NM_001005283:exon1:c.G591A:p.V197V	ENST00000311591.3	.	11q12.1	.	.	.	.	.	rs550186058	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0030	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.660	-0.676	.	2.96	AC=1;AN=2;BQB=0.830308;DP4=13,14,21,13;DP=75;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.333947;SF=20;SGB=-0.693132;VDB=0.750314	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:34:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	11	58978349	.	C	A	222	PASS	MPEG1	macrophage expressed 1	exonic	NM_001039396	.	missense SNV	MPEG1:NM_001039396:exon1:c.G1990T:p.V664F	ENST00000361050.3	.	11q12.1	.	.	Score=931;Name=V$AP1FJ_Q2	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005,D	0.66,P	0.954,P	0.525796,N	0.000302,D	2.565,M	1.51,T	8.1892	0.293	0.803	4.321669,24.0	.	AC=1;AN=2;BQB=0.77694;DP4=20,7,18,5;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.879795;SF=20;SGB=-0.692717;VDB=0.35736	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:23:255,0,255	.	.	.	.	C	A	0	1	Macrophage expressed gene 1	.	.	.	7888681	.	.	.	.	.	.	.	PM2,PP3
L	11	60718880	.	G	C	129	PASS	SLC15A3	solute carrier family 15 (oligopeptide transporter), member 3	exonic	NM_016582	.	synonymous SNV	SLC15A3:NM_016582:exon1:c.C144G:p.A48A	ENST00000227880.3	CpG: 58	11q12.2	.	.	Score=850;Name=V$SRF_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.153	1.349532,12.53	2.55	AC=1;AN=2;BQB=0.914947;DP4=7,5,3,2;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978023;SF=20;SGB=-0.590765;VDB=0.413797	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:5:163,0,255	.	.	.	.	G	C	0	1	Solute carrier family 15 (oligopeptide transporter), member 3	.	.	.	24695226|11741232|11336635	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	PM2
H	11	61160810	.	G	A	222	PASS	TMEM216	transmembrane protein 216	splicing	NM_001173990,NM_001173991,NM_016499	NM_001173990:exon2:c.136+6G>A;NM_001173991:exon2:c.136+6G>A	.	.	ENST00000398979.3,ENST00000515837.2,ENST00000334888.5	.	11q12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.421	0.000	1.517921,13.41	.	AC=1;AN=2;BQB=0.930741;DP4=10,7,8,9;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999407;SF=20;SGB=-0.690438;VDB=0.180918	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:17:255,0,255	.	.	.	.	G	A	0	1	Joubert syndrome 2, 608091 (3); Meckel syndrome 2, 603194 (3)	.	.	.	22282472|20512146|20036350	.	.	.	.	.	.	.	PM2
H	11	61658744	.	T	A	228	PASS	FADS3	fatty acid desaturase 3	exonic	NM_021727	.	missense SNV	FADS3:NM_021727:exon1:c.A110T:p.K37M	ENST00000529525.1,ENST00000540820.1,ENST00000527697.1,ENST00000525588.1,ENST00000278829.2	CpG: 103	11q12.2	.	.	Score=897;Name=V$USF_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005,D	0.928,D	0.907,P	1,D	0.051234,U	1.13,L	-1.02,T	11.5368	1.657	1.522	6.471748,30	3.65	AC=2;AN=2;BQB=0.52381;DP4=0,2,12,9;DP=33;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.119048;SF=20;SGB=-0.692352;VDB=0.156802	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:23:21:255,6,0	.	.	.	.	T	A	1	0	Fatty acid desaturase 3	.	.	.	10860662|9445487	.	.	.	.	.	.	.	PM2
H	11	62299482	rs114577843	C	G	222	PASS	AHNAK	AHNAK nucleoprotein	exonic	NM_001620	.	missense SNV	AHNAK:NM_001620:exon5:c.G2407C:p.G803R	ENST00000378024.4,ENST00000257247.7,ENST00000530124.1	.	11q12.3	.	.	.	.	.	rs114577843	.	.	0	0.001	0.000199681	.	4.942e-05	0.0007	.	.	0.043,D	1.0,D	1.0,D	1,D	0.000040,D	2.79,M	3.9,T	18.9085	2.580	0.007	5.947932,27.6	5.46	AC=2;AN=4;BQB=0.76995;DP4=81,44,65,40;DP=313;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.872136;SF=0,20;SGB=-0.693147;VDB=0.423712	GT:DP:DV:PL	0/1:108:57:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:122:48:255,0,255	.	.	.	.	C	G	0	2	AHNAK nucleoprotein (desmoyokin)	.	.	.	18334579|18191595|15007166|8938448|8408266|7789175|1922057|1608957	.	.	.	.	.	.	.	PP3
H	11	64012682	rs768777921	C	G	222	PASS	PPP1R14B	protein phosphatase 1, regulatory (inhibitor) subunit 14B	exonic	NM_138689	.	missense SNV	PPP1R14B:NM_138689:exon2:c.G336C:p.R112S	ENST00000392210.2,ENST00000542235.1,ENST00000309318.3	.	11q13.1	.	.	.	.	.	rs768777921	.	.	.	.	.	.	8.376e-06	0	.	.	0.027,D	0.039,B	0.057,B	0.998288,D	0.000000,U	2.045,M	.	8.0722	0.743	0.960	4.085470,23.7	.	AC=1;AN=2;BQB=0.757476;DP4=34,1,35,3;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.853367;SF=20;SGB=-0.693143;VDB=0.0812552	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:38:255,0,255	.	.	.	.	C	G	0	1	Protein phosphatase 1, regulatory subunit 14B	.	.	.	8838322|8670283	.	.	.	.	PID_ILK_PATHWAY	.	.	PM2
L	11	71249465	rs144266749	C	T	222	PASS	KRTAP5-8	keratin associated protein 5-8	exonic	NM_021046	.	missense SNV	KRTAP5-8:NM_021046:exon1:c.C364T:p.P122S	ENST00000398534.3	.	11q13.4	.	.	.	Score=0.921529;Name=chr11:1626825	.	rs144266749	.	.	0.00332226	0.0079	0.00159744	.	0.0006	0.0079	0.00332226	0.00332226	0.032,D	0.008,B	0.003,B	1,N	.	1.335,L	4.9,T	4.8597	0.023	0.456	.	.	AC=1;AN=2;BQB=0.800771;DP4=49,33,29,23;DP=178;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.756816;MQSB=0.335768;RPB=0.8486;SF=20;SGB=-0.693147;VDB=0.0434659	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:134:52:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	11	75480125	rs570824870	C	T	222	PASS	DGAT2	diacylglycerol O-acyltransferase 2	exonic	NM_001253891,NM_032564	.	missense SNV	DGAT2:NM_001253891:exon1:c.C89T:p.P30L,DGAT2:NM_032564:exon1:c.C89T:p.P30L	ENST00000228027.7,ENST00000605608.1,ENST00000376262.3	CpG: 76	11q13.5	.	.	.	.	.	rs570824870	.	.	0.00166113	0.002	0.000599042	.	0.0007	0.0094	0.00612557349158	0.00166113	0.007,D	0.001,B	0.001,B	1,N	0.020087,N	0.345,N	2.48,T	11.1965	0.432	0.265	.	2.67	AC=1;AN=2;BQB=0.939649;DP4=17,8,15,6;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.953458;SF=20;SGB=-0.692352;VDB=0.000324212	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:21:255,0,255	.	.	.	.	C	T	0	1	Diacylglycerol O-acyltransferase 2	.	.	.	15671038|11481335	BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;TRIACYLGLYCEROL_METABOLIC_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_GLYCEROLIPID_METABOLISM;KEGG_RETINOL_METABOLISM	.	.	REACTOME_TRIGLYCERIDE_BIOSYNTHESIS;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	
L	11	76910816	rs139889944	G	A	222	PASS	MYO7A	myosin VIIA	exonic	NM_000260,NM_001127180	.	missense SNV	MYO7A:NM_000260:exon35:c.G4805A:p.R1602Q,MYO7A:NM_001127180:exon35:c.G4691A:p.R1564Q	ENST00000409709.3,ENST00000458637.2,ENST00000409619.2	.	11q13.5	.	.	.	.	.	rs139889944	CLINSIG=Likely benign|Likely benign;CLNDBN=not_specified|not_provided;CLNACC=RCV000036165.2|RCV000132572.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809	.	0.0664452	0.0585	0.0117812	0.0002	0.0034	0.0444	0.039050543951	0.0552884860577	0.006,D	0.656,P	0.99,D	0.999998,D	0.000000,D	2.9,M	-0.56,T	18.4094	2.591	9.098	7.446289,34	4.97	AC=3;AN=6;BQB=0.87301;DP4=40,23,41,27;DP=183;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980341;SF=1,16,20;SGB=-0.692352;VDB=0.631023	GT:DP:DV:PL	.	0/1:37:21:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:23:255,0,255	.	.	.	0/1:51:24:255,0,255	.	.	.	.	G	A	0	3	Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2, 600060 (3); Deafness, autosomal dominant 11, 601317 (3)	.	Usher syndrome, atypical(CM981339)	CGG-CAG|Arg1602Gln|c.4805G>A|p.R1602Q(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9718356&dopt=Abstract)	9718356|21901789|21311020|21150918|20639393|20132242|18181211|15660226|15221449|12966030|12743369|12485990|12080385|11468276|11391666|10958658|10414956|10364543|10094549|9843659|9718342|9620764|9382091|9354784|9286457|9171833|9171832|9070921|9002678|8900236|8884267|8842737|8622919|7951250|7870172|7870171	LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;SENSORY_PERCEPTION;VACUOLE_ORGANIZATION_AND_BIOGENESIS;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;LYTIC_VACUOLE;MEMBRANE;CYTOPLASM;VACUOLE;CYTOSOL;ORGANELLE_MEMBRANE;VACUOLAR_PART;LYSOSOMAL_MEMBRANE;CELL_PROJECTION;VACUOLAR_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;LYSOSOME;SYNAPSE	CALMODULIN_BINDING	.	.	.	.	PS3,PP3
L	11	82880258	rs147029675	G	T	222	PASS	PCF11	PCF11 cleavage and polyadenylation factor subunit	exonic	NM_015885	.	missense SNV	PCF11:NM_015885:exon8:c.G2881T:p.G961C	ENST00000298281.4	.	11q14.1	.	.	.	.	.	rs147029675	.	.	0.0780731	0.0645	0.0133786	0.0002	0.0037	0.0471	0.0535988041348	0.0709134653846	0.004,D	0.707,P	0.992,D	0.576344,D	0.002374,N	1.935,L	1.86,T	10.2676	2.885	2.619	4.273771,24.0	5.11	AC=3;AN=6;BQB=0.907408;DP4=76,42,74,30;DP=297;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.938222;SF=2,13,20;SGB=-0.69311;VDB=0.406985	GT:DP:DV:PL	.	.	0/1:73:31:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:76:37:255,0,255	.	.	.	.	.	.	0/1:73:36:255,0,255	.	.	.	.	G	T	0	3	PCF11, yeast, homolog of	.	.	.	15241417|11060040|10048485	.	.	.	.	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	
L	11	93431177	rs186054282	A	G	222	PASS	CEP295	centrosomal protein 295kDa	exonic	NM_033395	.	synonymous SNV	CEP295:NM_033395:exon15:c.A3099G:p.Q1033Q	ENST00000325212.6,ENST00000344196.4,ENST00000531700.1,ENST00000411936.1	.	11q21	.	.	.	.	.	rs186054282	.	.	0.00664452	0.0079	0.00199681	.	0.0008	0.0145	0.00426136	0.00841346879808	.	.	.	.	.	.	.	.	-1.580	-2.346	.	.	AC=1;AN=2;BQB=0.328758;DP4=11,3,9,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.71275;SF=20;SGB=-0.680642;VDB=0.223642	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	11	93778875	rs758594442	G	A	222	PASS	HEPHL1	hephaestin-like 1	exonic	NM_001098672	.	synonymous SNV	HEPHL1:NM_001098672:exon2:c.G207A:p.R69R	ENST00000315765.9	.	11q21	.	.	Score=868;Name=V$EVI1_06	.	.	rs758594442	.	.	.	.	.	.	1.106e-05	0	.	.	.	.	.	.	.	.	.	.	0.729	0.246	1.136604,11.41	3.43	AC=1;AN=2;BQB=0.902938;DP4=8,2,15,2;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.603988;SF=20;SGB=-0.690438;VDB=0.135564	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:17:255,0,234	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	11	94320333	rs148847419	T	C	221.5	PASS	PIWIL4	piwi-like RNA-mediated gene silencing 4	exonic	NM_152431	.	synonymous SNV	PIWIL4:NM_152431:exon7:c.T834C:p.T278T	ENST00000537874.1,ENST00000299001.6,ENST00000536540.1	.	11q21	.	.	.	.	.	rs148847419	.	.	0.0465116	0.0347	0.00738818	7.7e-05	0.0035	0.0470	0.0306278830015	0.0456730675481	.	.	.	.	.	.	.	.	0.369	-0.114	.	.	AC=2;AN=4;BQB=0.566691;DP4=28,9,19,11;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885517;SF=13,20;SGB=-0.683931;VDB=0.516627	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:13:255,0,255	.	.	.	.	.	.	0/1:30:17:255,0,255	.	.	.	.	T	C	0	2	PIWI-like 4	.	.	.	22020280|17395546|12906857	.	.	.	KEGG_DORSO_VENTRAL_AXIS_FORMATION	.	.	.	
L	11	95825407	rs61901862	C	T	39.84	PASS	MAML2	mastermind-like transcriptional coactivator 2	exonic	NM_032427	.	synonymous SNV	MAML2:NM_032427:exon2:c.G1788A:p.Q596Q	ENST00000524717.1	.	11q21	.	.	.	.	Score=434;Name="842077:HAL1-2a_MD(LINE)"	rs61901862	.	.	.	.	.	.	8.883e-05	0	.	0.00869565	.	.	.	.	.	.	.	.	-0.978	0.457	.	.	AC=6;AN=12;BQB=0.051493;DP4=51,5,17,9;DP=194;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00780539;SF=0,4,6,7,8,20;SGB=-0.590765;VDB=0.00635409	GT:DP:DV:PL	0/1:16:5:88,0,172	.	.	.	0/1:6:3:79,0,82	.	0/1:13:5:73,0,175	0/1:18:5:78,0,207	0/1:9:3:64,0,147	.	.	.	.	.	.	.	.	.	.	.	0/1:20:5:61,0,183	.	.	.	.	C	T	0	6	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	17551948|15961999|14536081|12539049|12386158|12370315|11347906	RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;NOTCH_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_NOTCH	
L	11	108180917	rs3092910	T	C	199.5	PASS	ATM	ATM serine/threonine kinase	exonic	NM_000051	.	synonymous SNV	ATM:NM_000051:exon39:c.T5793C:p.A1931A	ENST00000278616.4,ENST00000452508.2,ENST00000525729.1	.	11q22.3	.	.	.	.	.	rs3092910	CLINSIG=Likely benign|Benign|other;CLNDBN=not_specified|Ataxia-telangiectasia_syndrome|Hereditary_cancer-predisposing_syndrome;CLNACC=RCV000116428.2|RCV000119174.4|RCV000123752.4;CLNDSDB=MedGen|MedGen:OMIM:ORPHA:SNOMED_CT|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0004135:208900:100:68504005|C0027672:699346009	.	0.00996678	0.0119	0.0061901	0.0075	0.0052	0.0105	0.00689127029096	0.00961538588942	.	.	.	.	.	.	.	.	-0.116	-0.139	.	.	AC=2;AN=4;BQB=0.97979;DP4=30,3,23,2;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.886551;SF=0,20;SGB=-0.680642;VDB=0.0711402	GT:DP:DV:PL	0/1:24:12:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:13:210,0,255	.	.	.	.	T	C	0	2	Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin, somatic (3); {Breast cancer, susceptibility to}, 114480 (3); Lymphoma, mantle cell (3); T-cell prolymphocytic leukemia, somatic (3)	.	.	.	23708966|23103869|22345219|22071889|22002603|21960636|21160472|20966255|19153073|18674748|18650924|18483401|17554310|17525332|17136093|16958054|16931761|16906133|16832357|16799570|16652348|16497931|16150740|16141325|16141284|15928302|15834407|15829956|15790808|15758953|15665079|15496926|15459181|15213104|15174027|15054841|15042666|14695534|14553952|12915485|12697903|12673794|12556884|12554677|12540856|12362033|12195425|12086603|12034743|11889466|11850621|11826028|11805335|11679583|11418864|11298456|11238376|11181576|10980530|10910365|10839545|10839544|10817650|10802669|10783165|10766245|10716718|10706620|10677309|10639175|10571946|10556216|10550055|10449794|10397742|10330348|10192382|9887333|9843217|9792409|9781027|9771717|9733515|9733514|9707615|9600235|9521587|9497252|9463314|9450874|9443866|9405657|9334731|9288106|9259193|9241281|9223307|9050866|8968760|8917548|8845835|8843194|8843193|8843191|8808599|8797579|8789452|8786135|8755918|8689683|8672141|8661102|8660985|8589678|8101622|7792600|7671311|7671310|7671309|7671296|7637733|7545545|6504056|3574400|3338800|3200306|3093854|2491181|2005780|1551665|825857|642007|187527|118375	DNA_METABOLIC_PROCESS;DNA_REPAIR;MITOTIC_CELL_CYCLE_CHECKPOINT;BIOPOLYMER_METABOLIC_PROCESS;MEIOSIS_I;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;M_PHASE;REGULATION_OF_MITOSIS;CELL_CYCLE_PROCESS;MEIOTIC_CELL_CYCLE;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELL_CYCLE_CHECKPOINT_GO_0000075;RESPONSE_TO_STRESS;RESPONSE_TO_ABIOTIC_STIMULUS;DNA_RECOMBINATION;RESPONSE_TO_IONIZING_RADIATION;RESPONSE_TO_RADIATION;MEIOTIC_RECOMBINATION;MITOSIS;CELL_CYCLE_GO_0007049;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_N_TERMINUS_BINDING;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;LIPID_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;INOSITOL_OR_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY	KEGG_CELL_CYCLE;KEGG_P53_SIGNALING_PATHWAY;KEGG_APOPTOSIS	PID_FANCONI_PATHWAY;PID_P38_MKK3_6PATHWAY;PID_NFKAPPABCANONICALPATHWAY;PID_E2F_PATHWAY;PID_ATM_PATHWAY;PID_TELOMERASEPATHWAY;PID_DELTANP63PATHWAY;PID_BARD1PATHWAY;PID_P53REGULATIONPATHWAY	BIOCARTA_CHEMICAL_PATHWAY;BIOCARTA_ATM_PATHWAY;BIOCARTA_G1_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_P53_PATHWAY;BIOCARTA_RB_PATHWAY;BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_REGULATION_OF_THE_FANCONI_ANEMIA_PATHWAY;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_DNA_REPAIR;REACTOME_MEIOTIC_RECOMBINATION;REACTOME_G2_M_CHECKPOINTS;REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT	BP6
H	11	108302498	rs117903393	A	G	140	PASS	C11orf65	chromosome 11 open reading frame 65	exonic	NM_152587	.	missense SNV	C11orf65:NM_152587:exon3:c.T149C:p.I50T	ENST00000529391.1,ENST00000525729.1,ENST00000393084.1	.	11q22.3	.	.	Score=936;Name=V$GATA3_01	.	.	rs117903393	.	.	0.0182724	0.0179	0.00359425	.	0.0012	0.0158	0.0107197413783	0.0156249811298	0.011,D	0.563,P	0.944,P	0.999989,D	0.001333,N	2.88,M	1.43,T	12.41	2.195	4.473	3.768846,23.4	5.73	AC=1;AN=2;BQB=0.976745;DP4=6,0,10,0;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.930476;SF=20;SGB=-0.670168;VDB=0.0941612	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:10:173,0,133	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	11	108356977	rs145604569	C	T	201.5	PASS	KDELC2	KDEL (Lys-Asp-Glu-Leu) containing 2	exonic	NM_153705	.	synonymous SNV	KDELC2:NM_153705:exon3:c.G591A:p.T197T	ENST00000323468.5,ENST00000375648.1,ENST00000434945.2	.	11q22.3	.	.	Score=913;Name=V$HLF_01	.	.	rs145604569	.	.	0.00830565	0.0099	0.00199681	.	0.0007	0.0092	0.00612557330781	0.0084134625	.	.	.	.	.	.	.	.	-1.873	-0.766	.	.	AC=2;AN=4;BQB=0.999158;DP4=22,7,28,5;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986616;SF=0,20;SGB=-0.692717;VDB=0.516966	GT:DP:DV:PL	0/1:40:23:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:10:214,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	11	114442204	.	A	T	222	PASS	NXPE4	neurexophilin and PC-esterase domain family, member 4	splicing	NM_001077639,NM_017678	NM_001077639:exon6:c.1100-9T>A;NM_017678:exon6:c.248-9T>A	.	.	ENST00000375478.3,ENST00000424261.2	.	11q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	1.212	.	.	AC=1;AN=2;BQB=1;DP4=3,6,7,4;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.455794;SF=20;SGB=-0.676189;VDB=0.163723	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:11:255,0,233	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	11	116707736	rs12718465	C	T	222	PASS	APOA1	apolipoprotein A-I	exonic	NM_000039	.	missense SNV	APOA1:NM_000039:exon3:c.G181A:p.A61T	ENST00000359492.2,ENST00000375320.1,ENST00000444200.1,ENST00000236850.4,ENST00000375329.2,ENST00000375323.1	.	11q23.3	.	.	.	.	.	rs12718465	.	.	0.0398671	0.0407	0.0081869	.	0.0029	0.0386	0.0260336617152	0.0420673043269	0.668,T	0.004,B	0.021,B	1,N	0.236923,U	1.1,L	-0.24,T	4.664	-0.465	-0.227	.	.	AC=2;AN=4;BQB=0.926178;DP4=35,12,48,10;DP=144;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.310587;SF=19,20;SGB=-0.69311;VDB=0.327597	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:31:255,0,255	0/1:53:27:255,0,255	.	.	.	.	C	T	0	2	ApoA-I and apoC-III deficiency, combined (3); Hypoalphalipoproteinemia, 604091 (3); Corneal clouding, autosomal recessive (3); Amyloidosis, 3 or more types, 105200 (3)	.	.	.	16452169|14600188|12900335|12511957|12050338|12030900|11425766|10487826|10198255|9931341|9916936|9688527|9514407|9109440|9062353|8675681|8647961|8282791|8240372|7430351|7295199|7249374|7082443|7080131|7078608|6977760|6818131|6800349|6776144|6694557|6501564|6489332|6439535|6432779|6422932|6420790|6413973|6413385|6411081|6406984|6404278|6403543|6402711|6401735|6308458|6294659|6247908|6198645|6131168|3953576|3936351|3936350|3723016|3142462|3141894|3119665|3118360|3107917|3095836|3095375|3082191|3081805|3080367|3047170|3020028|3005989|3005987|2998654|2995445|2903847|2894758|2892394|2892216|2887109|2883893|2877939|2862468|2512329|2506176|2491774|2123470|2108924|1972696|1969839|1901417|1898657|1601989|1502149|230573|204308|46338	REGULATION_OF_BIOLOGICAL_QUALITY;PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GLYCEROPHOSPHOLIPID_BIOSYNTHETIC_PROCESS;REGULATION_OF_SECRETION;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_CYTOKINE_SECRETION;MEMBRANE_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;SECRETION_BY_CELL;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;BIOSYNTHETIC_PROCESS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;LIPID_TRANSPORT;PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;CYTOKINE_PRODUCTION;LIPOPROTEIN_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;IMMUNE_EFFECTOR_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;INTERLEUKIN_1_SECRETION;PROTEIN_STABILIZATION;IMMUNE_RESPONSE;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;LIPOPROTEIN_BIOSYNTHETIC_PROCESS;NEGATIVE_REGULATION_OF_SECRETION;CELLULAR_LIPID_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;CHEMICAL_HOMEOSTASIS;CELLULAR_LOCALIZATION;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_PROTEIN_SECRETION;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;REGULATION_OF_PROTEIN_STABILITY;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RHO_PROTEIN_SIGNAL_TRANSDUCTION	MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_REGION;CYTOPLASMIC_PART;CYTOPLASM;VESICLE;ENDOCYTIC_VESICLE;CYTOPLASMIC_VESICLE;EXTRACELLULAR_REGION_PART;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;EXTRACELLULAR_SPACE	LIPID_BINDING;STEROL_BINDING;ENZYME_ACTIVATOR_ACTIVITY;PHOSPHOLIPID_BINDING;ENZYME_REGULATOR_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;RECEPTOR_BINDING;STEROID_BINDING;LIPID_TRANSPORTER_ACTIVITY	KEGG_PPAR_SIGNALING_PATHWAY	PID_HNF3BPATHWAY	BIOCARTA_PPARA_PATHWAY	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT;REACTOME_AMYLOIDS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
H	11	117241978	.	T	A	222	PASS	CEP164	centrosomal protein 164kDa	exonic	NM_001271933,NM_014956	.	missense SNV	CEP164:NM_001271933:exon8:c.T948A:p.N316K,CEP164:NM_014956:exon9:c.T948A:p.N316K	ENST00000278935.3,ENST00000533706.1	.	11q23.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009,D	0.163,B	0.763,P	1,N	0.979369,N	1.735,L	0.33,T	1.5817	-0.094	-0.385	.	.	AC=1;AN=2;BQB=0.831965;DP4=18,11,17,11;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9787;SF=20;SGB=-0.693054;VDB=0.811753	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:28:255,0,255	.	.	.	.	T	A	0	1	Nephronophthisis 15, 614845 (3)	.	.	.	23150559|22863007|19197159|18283122|17954613|14654843|10470851	.	.	.	.	PID_ATR_PATHWAY	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	PM2
L	11	117310034	rs374221934	C	T	222	PASS	DSCAML1	Down syndrome cell adhesion molecule like 1	exonic	NM_020693	.	synonymous SNV	DSCAML1:NM_020693:exon23:c.G4272A:p.T1424T	ENST00000321322.6,ENST00000527706.1	.	11q23.3	.	.	.	.	.	rs374221934	.	.	.	.	.	0.0002	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	-0.548	-4.545	1.389258,12.73	.	AC=1;AN=2;BQB=0.57526;DP4=13,11,12,12;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.759185;SF=20;SGB=-0.692831;VDB=0.00949548	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:24:255,0,255	.	.	.	.	C	T	0	1	Down syndrome cell adhesion molecule-like 1	.	.	.	18216854|12051741|11453658|10574461	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;ORGAN_MORPHOGENESIS;EMBRYONIC_MORPHOGENESIS;EMBRYONIC_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CELL_SURFACE	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_DSCAM_INTERACTIONS	
M	11	117789342	rs75037497	T	C	157.15	PASS	TMPRSS13	transmembrane protease, serine 13	exonic	NM_001077263,NM_001206789,NM_001206790,NM_001244995	.	missense SNV	TMPRSS13:NM_001077263:exon2:c.A233G:p.Q78R,TMPRSS13:NM_001206789:exon2:c.A233G:p.Q78R,TMPRSS13:NM_001206790:exon2:c.A233G:p.Q78R,TMPRSS13:NM_001244995:exon2:c.A233G:p.Q78R	ENST00000445164.2,ENST00000430170.2,ENST00000524993.1,ENST00000528626.1,ENST00000526090.1	.	11q23.3	.	.	.	.	.	rs75037497	.	.	.	.	.	.	0.0003	0.0016	.	0.026087	0.327,T	0.0,B	0.0,B	1,P	0.744233,N	-0.55,N	-2.14,D	9.3313	-0.789	-0.431	.	.	AC=22;AN=44;BQB=0.339296;DP4=164,168,127,167;DP=1297;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00170362;SF=1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.690438;VDB=5.10956e-09	GT:DP:DV:PL	.	0/1:23:17:255,0,72	0/1:29:23:255,0,57	0/1:27:23:255,0,42	0/1:25:18:255,0,124	.	0/1:30:7:103,0,255	0/1:47:12:149,0,255	0/1:25:15:240,0,163	0/1:16:12:242,0,74	0/1:23:14:255,0,154	0/1:38:10:200,0,255	0/1:12:7:140,0,119	0/1:54:22:255,0,255	0/1:32:25:255,0,114	0/1:26:4:70,0,255	0/1:18:12:208,0,113	0/1:30:6:95,0,255	0/1:24:5:109,0,255	.	0/1:30:9:137,0,255	0/1:33:20:255,0,165	0/1:9:3:78,0,193	0/1:29:21:255,0,79	0/1:46:9:144,0,255	T	C	0	22	Transmembrane protein, serine 13	.	.	.	11267681	.	.	.	.	.	.	.	
M	11	117789345	rs61900347	G	C	162.66	PASS	TMPRSS13	transmembrane protease, serine 13	exonic	NM_001077263,NM_001206789,NM_001206790,NM_001244995	.	missense SNV	TMPRSS13:NM_001077263:exon2:c.C230G:p.A77G,TMPRSS13:NM_001206789:exon2:c.C230G:p.A77G,TMPRSS13:NM_001206790:exon2:c.C230G:p.A77G,TMPRSS13:NM_001244995:exon2:c.C230G:p.A77G	ENST00000445164.2,ENST00000430170.2,ENST00000524993.1,ENST00000528626.1,ENST00000526090.1	.	11q23.3	.	.	.	.	.	rs61900347	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0021	0.00166113	0.00600961449519	0.143,T	0.001,B	0.0,B	1,P	0.904837,N	1.445,L	-2.24,D	6.0296	-0.045	0.105	.	.	AC=20;AN=40;BQB=0.879462;DP4=175,210,117,160;DP=1201;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.000303539;SF=1,2,3,4,6,7,8,9,10,11,12,13,14,16,17,18,20,21,23,24;SGB=-0.688148;VDB=5.71582e-08	GT:DP:DV:PL	.	0/1:24:15:255,0,184	0/1:32:22:255,0,167	0/1:31:22:255,0,141	0/1:27:17:255,0,191	.	0/1:32:7:92,0,255	0/1:51:11:129,0,255	0/1:31:15:235,0,255	0/1:17:11:225,0,125	0/1:31:14:245,0,255	0/1:41:10:199,0,255	0/1:14:7:137,0,163	0/1:56:21:255,0,255	0/1:35:22:255,0,234	.	0/1:24:11:176,0,247	0/1:29:5:73,0,255	0/1:28:5:98,0,255	.	0/1:32:9:139,0,255	0/1:44:21:255,0,255	.	0/1:33:22:255,0,138	0/1:50:10:142,0,255	G	C	0	20	Transmembrane protein, serine 13	.	.	.	11267681	.	.	.	.	.	.	.	
H	11	118773355	rs200847438	G	A	222	PASS	BCL9L	B-cell CLL/lymphoma 9-like	exonic	NM_182557	.	missense SNV	BCL9L:NM_182557:exon6:c.C1097T:p.P366L	ENST00000526143.1,ENST00000334801.3	.	11q23.3	.	.	.	.	.	rs200847438	.	.	0.00332226	0.002	0.000399361	.	1.708e-05	0.0002	0.00332226	0.00332226	0.311,T	0.001,B	0.001,B	0.999131,D	0.209283,N	0.55,N	-0.05,T	12.2682	2.024	4.696	2.196637,17.49	3.9	AC=1;AN=2;BQB=0.536235;DP4=29,11,30,13;DP=116;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.943273;SF=20;SGB=-0.693146;VDB=0.592105	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:83:43:255,0,255	.	.	.	.	G	A	0	1	B-cell CLL/lymphoma 9-like	.	.	.	15371335|12964048	.	.	.	.	.	.	.	
H	11	123813764	rs539085460	C	T	222	PASS	OR6T1	olfactory receptor, family 6, subfamily T, member 1	exonic	NM_001005187	.	missense SNV	OR6T1:NM_001005187:exon1:c.G782A:p.R261H	ENST00000321252.2	.	11q24.1	.	.	.	.	.	rs539085460	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0012	0.001531391317	0.00240384754808	0.001,D	0.772,P	0.973,D	1,N	.	2.35,M	1.18,T	3.701	0.152	-1.798	3.147930,22.6	.	AC=1;AN=2;BQB=0.819748;DP4=9,9,14,9;DP=54;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.671061;SF=20;SGB=-0.692717;VDB=0.25689	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	11	123886648	rs397832341	T	C	222	PASS	OR10G4	olfactory receptor, family 10, subfamily G, member 4	exonic	NM_001004462	.	synonymous SNV	OR10G4:NM_001004462:exon1:c.T367C:p.L123L	ENST00000320891.4	.	11q24.1	.	.	Score=864;Name=V$TAL1BETAITF2_01	.	.	rs397832341	.	.	0	.	0.000399361	.	0.0001	0.0001	0.00142045	.	.	.	.	.	.	.	.	.	0.823	-1.493	.	2.46	AC=1;AN=2;BQB=0.656633;DP4=47,1,56,8;DP=143;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=0.312257;MQSB=0.243689;RPB=0.542864;SF=20;SGB=-0.693147;VDB=0.459513	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:112:64:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	11	124757704	rs201758034	G	A	222	PASS	ROBO4	roundabout guidance receptor 4	exonic	NM_001301088,NM_019055	.	missense SNV	ROBO4:NM_001301088:exon13:c.C1546T:p.R516W,ROBO4:NM_019055:exon13:c.C1981T:p.R661W	ENST00000533054.1,ENST00000306534.3	.	11q24.2	.	.	Score=720;Name=V$LUN1_01	.	.	rs201758034	.	.	0.00332226	0.004	0.000998403	.	0.0003	0.0042	0.00332226	0.0036057709375	0.004,D	0.968,D	1.0,D	0.898632,N	0.005279,N	2.215,M	-0.14,T	12.2237	0.322	2.457	5.876155,27.4	2.28	AC=1;AN=2;BQB=0.980793;DP4=27,18,28,16;DP=124;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.973022;SF=20;SGB=-0.693146;VDB=0.203636	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:89:44:255,0,255	.	.	.	.	G	A	0	1	Roundabout, Drosophila, homolog of, 4	.	.	.	18345009|15849270|11944987	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;ANGIOGENESIS;VASCULATURE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	RECEPTOR_ACTIVITY	.	.	.	.	
L	11	129784656	rs75558641	C	T	222	PASS	PRDM10	PR domain containing 10	exonic	NM_020228,NM_199437,NM_199438,NM_199439	.	synonymous SNV	PRDM10:NM_199439:exon13:c.G2526A:p.S842S,PRDM10:NM_199438:exon14:c.G2538A:p.S846S,PRDM10:NM_199437:exon17:c.G2784A:p.S928S,PRDM10:NM_020228:exon18:c.G2796A:p.S932S	ENST00000360871.3,ENST00000423662.2,ENST00000528746.1,ENST00000304538.6,ENST00000526082.1,ENST00000358825.5	.	11q24.3	.	.	.	.	.	rs75558641	.	.	0.0581395	0.0556	0.0115815	0.0004	0.0038	0.0499	0.0421133119449	0.0456730576923	.	.	.	.	.	.	.	.	-3.452	-1.653	1.406725,12.82	.	AC=1;AN=2;BQB=0.994253;DP4=23,10,32,7;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.596133;SF=20;SGB=-0.693144;VDB=0.0290088	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:72:39:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	11	130068523	rs117109847	C	T	222	PASS	ST14	suppression of tumorigenicity 14 (colon carcinoma)	splicing	NM_021978	NM_021978:exon14:c.1684+7C>T	.	.	ENST00000278742.5	.	11q24.3	.	.	.	.	.	rs117109847	.	.	0.0448505	0.0407	0.00938498	.	0.0026	0.0325	.	0.040865390625	.	.	.	.	.	.	.	.	0.898	0.587	.	2.93	AC=4;AN=8;BQB=0.884621;DP4=41,55,33,56;DP=248;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.984845;SF=4,8,10,20;SGB=-0.692831;VDB=0.244388	GT:DP:DV:PL	.	.	.	.	0/1:50:24:255,0,255	.	.	.	0/1:49:18:255,0,255	.	0/1:35:21:255,0,255	.	.	.	.	.	.	.	.	.	0/1:51:26:255,0,255	.	.	.	.	C	T	0	4	Ichthyosis, congenital, autosomal recessive 11, 602400 (3)	.	.	.	21097670|20657595|19389929|18843291|18445049|17273967|16838070|14638864|12207612|12032844|11696548|11290548|10500122|10373424|9925927|9450882|9083044	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
L	11	130779904	rs11222388	T	A	81.5	PASS	SNX19	sorting nexin 19	splicing	NM_001301089,NM_014758	NM_001301089:exon4:c.174+9A>T;NM_014758:exon4:c.2034+9A>T	.	.	ENST00000533214.1,ENST00000528555.1,ENST00000265909.4,ENST00000530356.1,ENST00000539184.1,ENST00000545537.1,ENST00000533318.1	.	11q24.3	.	.	.	.	.	rs11222388	.	.	0.0481728	0.0536	0.0251597	0.0009	0.0125	0.0487	0.0481728	0.0468750415865	.	.	.	.	.	.	.	.	-0.693	0.075	.	.	AC=2;AN=4;BQB=0.95494;DP4=14,0,12,0;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.95494;RPB=0.584657;SF=12,20;SGB=-0.636426;VDB=0.152439	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:7:131,0,103	.	.	.	.	.	.	.	0/1:14:5:98,0,166	.	.	.	.	T	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	12	994971	rs187067527	C	T	222	PASS	WNK1	WNK lysine deficient protein kinase 1	exonic	NM_001184985,NM_014823,NM_018979,NM_213655	.	synonymous SNV	WNK1:NM_014823:exon17:c.C4260T:p.S1420S,WNK1:NM_001184985:exon19:c.C5781T:p.S1927S,WNK1:NM_018979:exon19:c.C5001T:p.S1667S,WNK1:NM_213655:exon19:c.C5757T:p.S1919S	ENST00000530271.2,ENST00000315939.6,ENST00000537687.1,ENST00000340908.4,ENST00000535572.1	.	12p13.33	.	.	Score=814;Name=V$FREAC4_01	.	.	rs187067527	.	.	0.00664452	0.005	0.000998403	.	0.0003	0.0038	0.00382848226646	0.00664452	.	.	.	.	.	.	.	.	-0.152	-0.118	.	.	AC=1;AN=2;BQB=0.825588;DP4=17,8,11,12;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.476496;SF=20;SGB=-0.692717;VDB=0.817231	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	C	T	0	1	Pseudohypoaldosteronism, type IIC, 614492 (3); Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)	.	.	.	22934535|18580052|18521183|17975670|17380208|17194447|16946995|16832045|16709664|16636245|16534117|16006511|15911806|15883153|15841204|15455397|15350218|15060842|15060842|14645531|14610273|12671053|12522152|12374799|11498583|10869238|10828064|10660600|9205841|8528245	ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;TRANSPORT;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;ION_TRANSPORT;INTRACELLULAR_SIGNALING_CASCADE	CYTOPLASM	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	.	.	.	
L	12	2794977	rs56270948	G	A	196.2	PASS	CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	exonic	NM_000719,NM_001129827,NM_001129829,NM_001129830,NM_001129831,NM_001129832,NM_001129833,NM_001129834,NM_001129835,NM_001129836,NM_001129837,NM_001129838,NM_001129839,NM_001129840,NM_001129841,NM_001129842,NM_001129843,NM_001129844,NM_001129846,NM_001167623,NM_001167624,NM_001167625,NM_199460	.	synonymous SNV	CACNA1C:NM_001129837:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129838:exon43:c.G5673A:p.P1891P,CACNA1C:NM_001129839:exon43:c.G5667A:p.P1889P,CACNA1C:NM_001129846:exon43:c.G5616A:p.P1872P,CACNA1C:NM_000719:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129829:exon44:c.G5772A:p.P1924P,CACNA1C:NM_001129833:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129834:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129835:exon44:c.G5706A:p.P1902P,CACNA1C:NM_001129836:exon44:c.G5700A:p.P1900P,CACNA1C:NM_001129840:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129841:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129842:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129843:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001129844:exon44:c.G5640A:p.P1880P,CACNA1C:NM_001167623:exon44:c.G5649A:p.P1883P,CACNA1C:NM_001167625:exon44:c.G5829A:p.P1943P,CACNA1C:NM_001129830:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129831:exon45:c.G5733A:p.P1911P,CACNA1C:NM_001129832:exon45:c.G5709A:p.P1903P,CACNA1C:NM_001167624:exon45:c.G5754A:p.P1918P,CACNA1C:NM_001129827:exon46:c.G5793A:p.P1931P,CACNA1C:NM_199460:exon47:c.G5898A:p.P1966P	ENST00000327702.7,ENST00000399617.1,ENST00000402845.3,ENST00000335762.5,ENST00000501371.1,ENST00000399595.1,ENST00000399629.1,ENST00000406454.3,ENST00000399644.1,ENST00000399606.1,ENST00000399621.1,ENST00000399641.1,ENST00000399603.1,ENST00000399638.1,ENST00000399655.1,ENST00000399601.1,ENST00000399591.1,ENST00000344100.3,ENST00000399634.1,ENST00000399597.1,ENST00000347598.4,ENST00000399637.1,ENST00000399649.1	.	12p13.33	.	.	.	Score=0.900997;Name=chr12:2846718	.	rs56270948	CLINSIG=Benign|Benign;CLNDBN=not_specified|Long_QT_syndrome;CLNACC=RCV000079301.4|RCV000200821.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0023976:9651007	.	0.051495	0.0446	0.0359425	.	0.0280	0.0412	0.0306278686064	0.0504807608173	.	.	.	.	.	.	.	.	-0.810	-0.142	.	.	AC=5;AN=10;BQB=0.222083;DP4=148,60,109,51;DP=512;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.00997024;MQSB=0.980413;RPB=0.822827;SF=0,2,11,20,24;SGB=-0.693079;VDB=0.213139	GT:DP:DV:PL	0/1:54:29:255,0,255	.	0/1:68:36:255,0,255	.	.	.	.	.	.	.	.	0/1:85:18:129,0,255	.	.	.	.	.	.	.	.	0/1:68:30:255,0,255	.	.	.	0/1:93:47:255,0,255	G	A	0	5	Timothy syndrome, 601005 (3); Brugada syndrome 3, 611875 (3)	.	.	.	21307850|20929813|20929812|18250309|18235447|17224476|17081980|17071743|16537462|15863612|15454078|15087548|12937413|12593842|11741969|11702785|11598293|11279498|9087614|9050846|9013606|8592342|8392192|8235594|8020938|7959794|2173707|1659003|1653763|1335957|1330882|1316612	REGULATION_OF_BIOLOGICAL_QUALITY;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	ORGANELLE_PART;SYNAPSE_PART;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;SYNAPSE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;CALMODULIN_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CARDIAC_MUSCLE_CONTRACTION;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_ALZHEIMERS_DISEASE;KEGG_HYPERTROPHIC_CARDIOMYOPATHY_HCM;KEGG_ARRHYTHMOGENIC_RIGHT_VENTRICULAR_CARDIOMYOPATHY_ARVC;KEGG_DILATED_CARDIOMYOPATHY	.	.	.	BP6
H	12	4758299	rs201653293	G	A	222	PASS	NDUFA9	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	exonic	NM_005002	.	missense SNV	NDUFA9:NM_005002:exon1:c.G7A:p.A3T	ENST00000536588.1,ENST00000542369.1,ENST00000266544.5	CpG: 23	12p13.32	.	.	Score=841;Name=V$TAL1BETAITF2_01	.	.	rs201653293	.	.	0.00332226	0.003	0.000599042	.	6.323e-05	0.0009	0.00332226	0.00332226	0.0,D	0.722,P	0.993,D	0.915472,D	0.037635,N	2.405,M	-1.2,T	13.0108	1.366	3.215	4.217731,23.9	3.95	AC=1;AN=2;BQB=0.983699;DP4=9,7,17,9;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.553396;SF=20;SGB=-0.692976;VDB=0.0336994	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:26:255,0,255	.	.	.	.	G	A	0	1	Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)	.	.	.	22114105|8486360|1832859	.	ORGANELLE_PART;ORGANELLE_INNER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NADH_DEHYDROGENASE_COMPLEX;ORGANELLE_MEMBRANE;ENVELOPE;MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_I;ORGANELLE_ENVELOPE;MITOCHONDRIAL_INNER_MEMBRANE;MITOCHONDRIAL_RESPIRATORY_CHAIN;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE;RESPIRATORY_CHAIN_COMPLEX_I;PROTEIN_COMPLEX;MITOCHONDRIAL_MEMBRANE_PART	ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_ALZHEIMERS_DISEASE;KEGG_PARKINSONS_DISEASE;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_RESPIRATORY_ELECTRON_TRANSPORT_ATP_SYNTHESIS_BY_CHEMIOSMOTIC_COUPLING_AND_HEAT_PRODUCTION_BY_UNCOUPLING_PROTEINS_	
H	12	5687524	rs79300954	G	A	178	PASS	ANO2	anoctamin 2, calcium activated chloride channel	splicing	NM_001278596,NM_001278597	NM_001278596:exon22:c.2401+8C>T;NM_001278597:exon22:c.2389+8C>T	.	.	ENST00000356134.5,ENST00000546188.1,ENST00000327087.8	.	12p13.31	.	.	.	.	.	rs79300954	.	.	0.0249169	0.0218	0.00479233	8.2e-05	0.0016	0.0201	0.0176109863706	0.0192307388221	.	.	.	.	.	.	.	.	0.249	-0.270	.	.	AC=2;AN=4;BQB=0.652681;DP4=27,5,18,2;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.496378;SF=10,20;SGB=-0.680642;VDB=0.0875195	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:24:12:251,0,255	.	.	.	.	.	.	.	.	.	0/1:28:8:172,0,255	.	.	.	.	G	A	0	2	Anoctamin 2	.	.	.	19561302|19015192|12739008	.	.	.	.	.	.	.	
L	12	6701085	rs143645855	T	C	206.4	PASS	CHD4	chromodomain helicase DNA binding protein 4	exonic	NM_001273,NM_001297553	.	synonymous SNV	CHD4:NM_001297553:exon19:c.A3066G:p.A1022A,CHD4:NM_001273:exon20:c.A3087G:p.A1029A	ENST00000544484.1,ENST00000357008.2,ENST00000544040.1,ENST00000309577.6	.	12p13.31	.	.	.	.	.	rs143645855	.	.	0.0332226	0.0347	0.00698882	7.7e-05	0.0021	0.0292	0.0252679929556	0.0252403919471	.	.	.	.	.	.	.	.	-1.615	-0.005	.	.	AC=5;AN=10;BQB=0.584454;DP4=54,28,60,28;DP=225;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.954102;SF=8,10,12,20,22;SGB=-0.69168;VDB=0.232693	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:38:19:255,0,255	.	0/1:45:22:255,0,255	.	0/1:29:16:255,0,255	.	.	.	.	.	.	.	0/1:43:25:255,0,255	.	0/1:15:6:177,0,255	.	.	T	C	0	5	Chromodomain helicase DNA-binding protein-4	.	.	.	23104009|16186106|10471500|10444591|9790534|8843877|7575689	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;DNA_HELICASE_ACTIVITY;CATION_BINDING;ATP_DEPENDENT_HELICASE_ACTIVITY;ZINC_ION_BINDING;HELICASE_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;ION_BINDING;ATP_DEPENDENT_DNA_HELICASE_ACTIVITY;DNA_DEPENDENT_ATPASE_ACTIVITY;ATPASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;PYROPHOSPHATASE_ACTIVITY;DNA_BINDING	.	PID_HDAC_CLASSI_PATHWAY	.	.	
H	12	6753721	rs144940565	C	T	222	PASS	ACRBP	acrosin binding protein	exonic	NM_032489	.	missense SNV	ACRBP:NM_032489:exon5:c.G526A:p.V176M	ENST00000229243.2,ENST00000414226.2,ENST00000536350.1	.	12p13.31	.	.	Score=741;Name=V$TCF11MAFG_01	.	.	rs144940565	.	.	0.0149502	0.0129	0.00259585	0.0005	0.0012	0.0114	0.0107197691271	0.0120192563702	0.003,D	0.129,B	0.316,B	1,D	0.003465,N	2.3,M	0.43,T	5.0199	1.166	0.473	4.074409,23.7	2.64	AC=1;AN=2;BQB=0.866878;DP4=16,5,17,5;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.535498;SF=20;SGB=-0.692562;VDB=0.300632	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:22:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	12	6806699	rs533827433	A	G	222	PASS	PIANP	PILR alpha associated neural protein	exonic	NM_001244014,NM_001244015,NM_153685	.	missense SNV	PIANP:NM_001244014:exon3:c.T277C:p.F93L,PIANP:NM_001244015:exon3:c.T277C:p.F93L,PIANP:NM_153685:exon3:c.T277C:p.F93L	ENST00000540656.1,ENST00000320591.5,ENST00000534837.1	.	12p13.31	.	.	.	.	.	rs533827433	.	.	0.00166113	0.001	0.000199681	.	5.875e-05	0.0008	0.00166113	0.00166113	0.0,D	0.139,B	0.684,P	0.973368,D	0.002106,N	0.46,N	.	10.4843	1.475	5.995	2.166521,17.29	4.06	AC=1;AN=2;BQB=0.193858;DP4=50,17,57,31;DP=211;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.952363;SF=20;SGB=-0.693147;VDB=0.352229	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:155:88:255,0,255	.	.	.	.	A	G	0	1	PILR-alpha-associated neural protein	.	.	.	23558288|21241660|20578158	.	.	.	.	.	.	.	
H	12	7079667	.	C	T	222	PASS	PHB2	prohibitin 2	exonic	NM_001144831,NM_001267700	.	unknown	UNKNOWN	ENST00000544134.1,ENST00000542912.1,ENST00000546111.1,ENST00000440277.1,ENST00000399433.2,ENST00000535923.1	CpG: 52	12p13.31	.	.	Score=880;Name=V$E47_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145,T	0.055,B	0.552,P	0.657517,N	0.044026,U	0.205,N	1.28,T	7.4834	0.507	0.243	2.833693,21.5	2.84	AC=1;AN=2;BQB=0.958249;DP4=15,11,14,11;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987256;SF=20;SGB=-0.692914;VDB=0.2148	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:25:255,0,255	.	.	.	.	C	T	0	1	Prohibitin 2	.	.	.	21746876|18339324|18281461|17065319|10359819	.	ORGANELLE_PART;ORGANELLE_INNER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE;CYTOPLASM;NUCLEUS;ORGANELLE_MEMBRANE;ENVELOPE;ORGANELLE_ENVELOPE;MITOCHONDRIAL_INNER_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE	SPECIFIC_TRANSCRIPTIONAL_REPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY	.	PID_ERA_GENOMIC_PATHWAY	BIOCARTA_CARM_ER_PATHWAY	.	PM2
L	12	7531779	rs758327820	G	A	222	PASS	CD163L1	CD163 molecule-like 1	exonic	NM_001297650,NM_174941	.	synonymous SNV	CD163L1:NM_001297650:exon9:c.C2196T:p.N732N,CD163L1:NM_174941:exon9:c.C2166T:p.N722N	ENST00000416109.2,ENST00000396630.1,ENST00000313599.3,ENST00000544331.1	.	12p13.31	.	.	.	.	.	rs758327820	.	.	.	.	.	.	8.238e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-1.498	-4.626	.	.	AC=1;AN=2;BQB=0.388694;DP4=27,8,20,11;DP=84;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.53157;SF=20;SGB=-0.69311;VDB=0.909177	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:31:255,0,255	.	.	.	.	G	A	0	1	CD164 antigen-like 1	.	.	.	11124526|11086079	.	.	.	.	.	.	.	
L	12	8327883	rs201454011	C	T	77.29	PASS	ZNF705A	zinc finger protein 705A	exonic	NM_001004328	.	missense SNV	ZNF705A:NM_001004328:exon3:c.C199T:p.R67W	ENST00000359286.4	.	12p13.31	.	.	.	Score=0.969716;Name=chr11:71515828	.	rs201454011	.	.	.	.	.	.	.	.	.	.	0.191,T	0.061,B	0.887,P	1,N	.	1.385,L	3.33,T	4.1207	0.019	-0.370	1.431903,12.95	.	AC=5;AN=10;BQB=0.0621513;DP4=207,48,62,14;DP=514;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.214528;MQSB=0.36566;RPB=0.532606;SF=5,12,14,20,23;SGB=-0.69168;VDB=0.00048641	GT:DP:DV:PL	.	.	.	.	.	0/1:77:19:102,0,255	.	.	.	.	.	.	0/1:31:7:76,0,255	.	0/1:62:19:174,0,255	.	.	.	.	.	0/1:75:17:131,0,255	.	.	0/1:86:14:78,0,255	.	C	T	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
H	12	9227152	rs191120289	C	T	166	PASS	A2M	alpha-2-macroglobulin	splicing	NM_000014	NM_000014:exon29:c.3756+4G>A	.	.	ENST00000318602.7	.	12p13.31	.	.	Score=908;Name=V$AREB6_01	.	.	rs191120289	.	.	0.00996678	0.0069	0.00159744	.	0.0013	0.0177	0.00612557595712	0.00841346449519	.	.	.	.	.	.	.	.	-1.714	-0.255	.	.	AC=1;AN=2;BQB=0.660933;DP4=22,3,11,0;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.971519;SF=20;SGB=-0.676189;VDB=0.456465	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:11:200,0,255	.	.	.	.	C	T	0	1	Alpha-2-macroglobulin deficiency, 614036 (1); {Alzheimer disease, susceptibility to}, 104300 (3)	.	.	.	19639019|19380872|18499670|16040006|15023809|12966032|10319855|10319854|10319853|10319845|9811940|9697696|8798779|7544347|7528166|4622731|2581245|2578664|2478422|2475424|2460294|2434923|2415929|2408344|1717945|1379499|1374237|1370808|94459	.	.	INTERLEUKIN_BINDING;GROWTH_FACTOR_BINDING;ENZYME_BINDING;CYTOKINE_BINDING	KEGG_COMPLEMENT_AND_COAGULATION_CASCADES	PID_IL6_7PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HDL_MEDIATED_LIPID_TRANSPORT;REACTOME_FORMATION_OF_FIBRIN_CLOT_CLOTTING_CASCADE;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_INTRINSIC_PATHWAY;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_HEMOSTASIS;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	12	11083356	rs1049112	A	G	209.64	PASS	PRH2	proline-rich protein HaeIII subfamily 2	exonic	NM_001110213	.	missense SNV	PRH2:NM_001110213:exon3:c.A196G:p.N66D	ENST00000536668.1,ENST00000396400.3,ENST00000381847.3	.	12p13.2	.	.	.	Score=0.902011;Name=chr12:11033093	.	rs1049112	.	.	.	.	.	.	0.0258	0.0165	0.0823864	0.269565	1.0,T	.	.	1,P	0.588505,N	.	2.33,T	2.7991	-1.974	-1.670	.	.	AC=26;AN=50;BQB=0.971171;DP4=1595,395,1482,236;DP=4916;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=1.18403e-07;MQSB=0.457965;RPB=0.236554;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.193973	GT:DP:DV:PL	0/1:128:75:255,0,255	0/1:128:86:255,0,255	0/1:157:52:208,0,255	0/1:116:72:255,0,255	0/1:133:50:242,0,255	0/1:217:78:255,0,255	0/1:153:55:223,0,255	0/1:172:63:255,0,255	0/1:149:50:255,0,255	0/1:122:39:219,0,255	0/1:161:100:255,0,255	0/1:170:63:215,0,255	0/1:93:65:255,0,255	0/1:160:55:255,0,255	0/1:141:51:255,0,255	1/1:94:93:255,223,0	0/1:155:52:208,0,255	0/1:118:47:237,0,255	0/1:146:60:251,0,255	0/1:140:92:255,0,255	0/1:168:64:204,0,255	0/1:222:140:255,0,255	0/1:48:31:255,0,255	0/1:234:72:243,0,255	0/1:183:113:255,0,255	A	G	1	24	Proline-rich protein HaeIII, subfamily-2	.	.	.	9556667|6095444|4706325|4424642|4331333|4053693|3840016|2984928|2613230|1261675	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	.	.	
H	12	11139305	rs142843602	G	A	222	PASS	TAS2R50	taste receptor, type 2, member 50	exonic	NM_176890	.	missense SNV	TAS2R50:NM_176890:exon1:c.C155T:p.A52V	ENST00000536668.1,ENST00000506868.1,ENST00000381852.4	.	12p13.2	.	.	.	.	.	rs142843602	.	.	0.0149502	0.0258	0.00539137	7.7e-05	0.0021	0.0250	0.0149502	0.0156250233173	0.102,T	0.678,P	0.983,D	1,N	0.023231,U	2.235,M	0.47,T	4.5161	0.232	-0.343	2.590623,20.1	.	AC=1;AN=2;BQB=0.993974;DP4=12,10,17,7;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.859751;SF=20;SGB=-0.692831;VDB=0.299414	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:24:255,0,255	.	.	.	.	G	A	0	1	Taste receptor, type 2, member 50	.	.	.	16175505|12584440	.	.	.	KEGG_TASTE_TRANSDUCTION	.	.	.	
H	12	11149658	rs150448607	A	G	222	PASS	TAS2R20	taste receptor, type 2, member 20	exonic	NM_176889	.	missense SNV	TAS2R20:NM_176889:exon1:c.T817C:p.S273P	ENST00000536668.1,ENST00000538986.1,ENST00000381852.4	.	12p13.2	.	.	.	.	.	rs150448607	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0022	0.00229708830015	0.00332226	0.002,D	0.991,D	0.999,D	1,N	0.558374,U	3.405,M	1.14,T	3.9798	0.222	0.144	3.406056,23.0	.	AC=1;AN=2;BQB=0.737074;DP4=8,6,9,5;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999736;SF=20;SGB=-0.686358;VDB=0.421623	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	.	.	A	G	0	1	Taste receptor, type 2, member 20	.	.	.	12584440	.	.	.	KEGG_TASTE_TRANSDUCTION	.	.	.	
L	12	11461549	rs11054243	G	C	118.51	PASS	PRB4	proline-rich protein BstNI subfamily 4	exonic	NM_002723	.	missense SNV	PRB4:NM_002723:exon3:c.C368G:p.P123R	ENST00000445719.2,ENST00000279575.1,ENST00000535904.1	.	12p13.2	.	.	.	Score=0.904239;Name=chr12:11541249	.	rs11054243	.	.	.	.	.	.	6.523e-05	0	0.0752841	.	0.147,T	0.002,B	0.004,B	1,N	.	.	3.13,T	4.6253	-0.098	-0.319	.	.	AC=18;AN=36;BQB=0.829821;DP4=707,797,360,109;DP=2732;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=0.679958;MQSB=0.30837;RPB=9.03527e-06;SF=0,2,3,6,7,9,10,11,12,13,14,15,16,17,19,20,23,24;SGB=-0.692067;VDB=0.000128219	GT:DP:DV:PL	0/1:97:20:150,0,255	.	0/1:138:37:198,0,255	0/1:106:24:119,0,255	.	.	0/1:106:23:173,0,255	0/1:124:34:210,0,255	.	0/1:88:16:84,0,255	0/1:141:24:106,0,255	0/1:131:31:143,0,255	0/1:98:18:101,0,255	0/1:136:44:255,0,255	0/1:107:30:217,0,255	0/1:106:27:190,0,255	0/1:122:29:153,0,255	0/1:82:15:85,0,255	.	0/1:126:35:179,0,255	0/1:114:31:165,0,255	.	.	0/1:78:15:84,0,255	0/1:73:16:145,0,255	G	C	0	18	Proline-rich protein BstNI, subfamily-4	.	.	.	11422372|8554050|6712583|6529438	.	.	.	.	.	.	.	PM2
L	12	11461553	rs11054244	T	C	183.52	PASS	PRB4	proline-rich protein BstNI subfamily 4	exonic	NM_002723	.	missense SNV	PRB4:NM_002723:exon3:c.A364G:p.R122G	ENST00000445719.2,ENST00000279575.1,ENST00000535904.1	.	12p13.2	.	.	.	Score=0.904239;Name=chr12:11541249	.	rs11054244	.	.	0.00166113	0.001	0.00459265	.	0.0001	0	0.0467075187289	0.00240384754808	0.649,T	0.0,B	0.0,B	1,P	.	.	4.54,T	.	-0.174	-1.127	.	.	AC=21;AN=42;BQB=0.336948;DP4=630,685,401,242;DP=3200;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=0.400689;MQSB=0.369319;RPB=6.65682e-09;SF=0,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,23,24;SGB=-0.693079;VDB=1.50479e-05	GT:DP:DV:PL	0/1:89:29:255,0,255	.	0/1:127:47:255,0,255	0/1:89:33:255,0,255	0/1:96:28:197,0,255	.	0/1:95:31:245,0,255	0/1:108:36:255,0,255	0/1:93:21:118,0,255	0/1:77:26:230,0,255	0/1:109:29:205,0,255	0/1:121:44:255,0,255	0/1:76:20:144,0,255	0/1:117:51:255,0,255	0/1:90:30:255,0,255	0/1:106:41:255,0,255	0/1:110:32:210,0,255	0/1:69:21:145,0,255	.	0/1:98:31:214,0,255	0/1:89:35:255,0,255	0/1:73:23:212,0,255	.	0/1:64:18:159,0,255	0/1:62:17:187,0,255	T	C	0	21	Proline-rich protein BstNI, subfamily-4	.	.	.	11422372|8554050|6712583|6529438	.	.	.	.	.	.	.	
L	12	11461596	rs59021567	T	G	209.86	PASS	PRB4	proline-rich protein BstNI subfamily 4	exonic	NM_001261399,NM_002723	.	synonymous SNV	PRB4:NM_001261399:exon3:c.A321C:p.G107G,PRB4:NM_002723:exon3:c.A321C:p.G107G	ENST00000445719.2,ENST00000279575.1,ENST00000535904.1	.	12p13.2	.	.	.	Score=0.904239;Name=chr12:11541249	.	rs59021567	.	.	.	.	.	.	0.0190	0.0335	.	.	.	.	.	.	.	.	.	.	-2.519	-1.892	.	.	AC=21;AN=42;BQB=0.434954;DP4=1345,434,587,342;DP=4381;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=1.59099e-06;MQSB=0.0182918;RPB=0.129401;SF=0,1,2,3,4,6,7,9,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.693147;VDB=0.898049	GT:DP:DV:PL	0/1:145:63:255,0,255	0/1:132:28:184,0,255	0/1:201:63:255,0,255	0/1:153:49:254,0,255	0/1:125:49:255,0,255	.	0/1:122:42:246,0,255	0/1:145:48:255,0,255	.	0/1:108:42:255,0,255	.	0/1:141:56:255,0,255	0/1:109:41:255,0,255	0/1:171:41:195,0,255	0/1:126:51:255,0,255	0/1:132:40:239,0,255	0/1:155:54:255,0,255	0/1:96:39:255,0,255	.	0/1:152:46:238,0,255	0/1:149:59:255,0,255	0/1:107:40:255,0,255	0/1:37:15:235,0,255	0/1:96:35:255,0,255	0/1:106:28:209,0,255	T	G	0	21	Proline-rich protein BstNI, subfamily-4	.	.	.	11422372|8554050|6712583|6529438	.	.	.	.	.	.	.	
L	12	11506749	rs747628015	T	C	141.79	PASS	PRB1	proline-rich protein BstNI subfamily 1	exonic	NM_005039,NM_199353,NM_199354	.	synonymous SNV	PRB1:NM_199353:exon3:c.A288G:p.K96K,PRB1:NM_199354:exon3:c.A288G:p.K96K	ENST00000546254.1,ENST00000545626.1,ENST00000500254.2	.	12p13.2	.	.	.	Score=0.943926;Name=chr12:11542977	.	rs747628015	.	.	.	.	.	.	0.0432	0.0212	.	.	.	.	.	.	.	.	.	.	-4.214	-0.585	.	.	AC=16;AN=32;BQB=0.0326776;DP4=1187,614,393,291;DP=4319;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=1.55782e-13;MQSB=0.000502454;RPB=0.00015699;SF=1,2,3,4,5,6,10,13,14,15,16,17,20,21,22,24;SGB=-0.693147;VDB=7.70455e-11	GT:DP:DV:PL	.	0/1:170:54:255,0,255	0/1:133:26:125,0,255	0/1:64:20:139,0,255	0/1:103:29:99,0,255	0/1:165:62:255,0,255	0/1:154:40:206,0,255	.	.	.	0/1:111:21:87,0,255	.	.	0/1:221:76:255,0,255	0/1:282:72:142,0,255	0/1:134:41:216,0,255	0/1:137:28:78,0,255	0/1:111:36:241,0,255	.	.	0/1:357:91:124,0,255	0/1:152:39:137,0,255	0/1:64:23:243,0,255	.	0/1:127:26:226,0,255	T	C	0	16	Proline-rich protein BstNI, subfamily-1	.	.	.	8422499|7437007|7395868|7295289|6924859|6529438|6089212|3055850|877561|752561|540000	.	.	.	.	.	.	.	
L	12	12630676	rs3055727	C	T	88.49	PASS	DUSP16	dual specificity phosphatase 16	exonic	NM_030640	.	synonymous SNV	DUSP16:NM_030640:exon7:c.G1089A:p.V363V	ENST00000298573.4,ENST00000228862.2	.	12p13.2	.	.	.	.	.	rs3055727	.	.	.	.	.	.	1.855e-05	0	0.0198864	.	.	.	.	.	.	.	.	.	0.183	-2.848	.	.	AC=8;AN=14;BQB=0.959011;DP4=57,17,20,21;DP=356;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00524752;SF=3,7,11,17,18,20,21;SGB=-0.651104;VDB=2.13077e-05	GT:DP:DV:PL	.	.	.	0/1:15:8:169,0,130	.	.	.	0/1:9:4:93,0,151	.	.	.	1/1:2:2:66,6,0	.	.	.	.	.	0/1:20:4:66,0,255	0/1:23:11:209,0,164	.	0/1:14:6:153,0,131	0/1:32:6:94,0,255	.	.	.	C	T	1	6	Dual-specificity phosphatase 16	.	.	.	19228121|11896457|11489891|11359773	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_EXPORT_FROM_NUCLEUS;NUCLEAR_EXPORT;PROTEIN_KINASE_CASCADE;MACROMOLECULE_LOCALIZATION;TRANSPORT;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;INACTIVATION_OF_MAPK_ACTIVITY;CELLULAR_LOCALIZATION;MAPKKK_CASCADE_GO_0000165;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;INTRACELLULAR_SIGNALING_CASCADE;NUCLEOCYTOPLASMIC_TRANSPORT	CYTOPLASM;NUCLEUS	.	KEGG_MAPK_SIGNALING_PATHWAY	PID_P38ALPHABETAPATHWAY	.	.	PM2
L	12	12630685	rs2111269	C	T	125.67	PASS	DUSP16	dual specificity phosphatase 16	exonic	NM_030640	.	synonymous SNV	DUSP16:NM_030640:exon7:c.G1080A:p.V360V	ENST00000298573.4,ENST00000228862.2	.	12p13.2	.	.	.	.	.	rs2111269	.	.	.	.	.	.	4.833e-05	0.0008	0.0426136	0.00434783	.	.	.	.	.	.	.	.	0.191	-0.033	.	.	AC=16;AN=20;BQB=0.751519;DP4=44,23,66,11;DP=478;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0717336;SF=3,4,7,11,12,15,18,20,21,23;SGB=-0.670168;VDB=0.520708	GT:DP:DV:PL	.	.	.	1/1:10:10:203,30,0	1/1:10:10:227,30,0	.	.	1/1:11:11:255,33,0	.	.	.	1/1:2:2:67,6,0	0/1:28:6:95,0,255	.	.	0/1:8:4:122,0,116	.	.	1/1:14:14:220,42,0	.	1/1:10:10:196,30,0	0/1:30:6:90,0,255	.	0/1:21:4:82,0,255	.	C	T	6	4	Dual-specificity phosphatase 16	.	.	.	19228121|11896457|11489891|11359773	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;REGULATION_OF_TRANSFERASE_ACTIVITY;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_EXPORT_FROM_NUCLEUS;NUCLEAR_EXPORT;PROTEIN_KINASE_CASCADE;MACROMOLECULE_LOCALIZATION;TRANSPORT;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;INACTIVATION_OF_MAPK_ACTIVITY;CELLULAR_LOCALIZATION;MAPKKK_CASCADE_GO_0000165;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;INTRACELLULAR_SIGNALING_CASCADE;NUCLEOCYTOPLASMIC_TRANSPORT	CYTOPLASM;NUCLEUS	.	KEGG_MAPK_SIGNALING_PATHWAY	PID_P38ALPHABETAPATHWAY	.	.	
L	12	21693386	rs147417298	A	G	222	PASS	GYS2	glycogen synthase 2 (liver)	exonic	NM_021957	.	synonymous SNV	GYS2:NM_021957:exon14:c.T1767C:p.T589T	ENST00000261195.2	.	12p12.1	.	.	.	.	.	rs147417298	.	.	0.00664452	0.0079	0.00159744	7.7e-05	0.0004	0.0054	0.00382848226646	0.00600961771635	.	.	.	.	.	.	.	.	-1.770	-2.137	.	.	AC=1;AN=2;BQB=0.694739;DP4=11,2,18,4;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992887;SF=20;SGB=-0.692562;VDB=0.10556	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:22:255,0,255	.	.	.	.	A	G	0	1	Glycogen storage disease 0, liver, 240600 (3)	.	.	.	9691087|8534634|8188280|1731614|141912|106027	GLUCAN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;ENERGY_RESERVE_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;RESPONSE_TO_CARBOHYDRATE_STIMULUS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;BIOPOLYMER_BIOSYNTHETIC_PROCESS;ENERGY_DERIVATION_BY_OXIDATION_OF_ORGANIC_COMPOUNDS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;POLYSACCHARIDE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS;CELLULAR_POLYSACCHARIDE_METABOLIC_PROCESS;RESPONSE_TO_ORGANIC_SUBSTANCE	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;INSOLUBLE_FRACTION;CYTOSKELETAL_PART;CELL_FRACTION;CYTOSOL;CYTOSKELETON;CELL_CORTEX_PART;CELL_CORTEX;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CORTICAL_CYTOSKELETON;CORTICAL_ACTIN_CYTOSKELETON;SOLUBLE_FRACTION	PROTEIN_HOMODIMERIZATION_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;UDP_GLYCOSYLTRANSFERASE_ACTIVITY;IDENTICAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	.	REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
L	12	25699436	rs138534907	C	T	125	PASS	LMNTD1	lamin tail domain containing 1	exonic	NM_001145727,NM_001145728,NM_001145729,NM_001256266,NM_152590	.	synonymous SNV	LMNTD1:NM_001145727:exon2:c.G111A:p.G37G,LMNTD1:NM_152590:exon3:c.G300A:p.G100G,LMNTD1:NM_001145728:exon4:c.G363A:p.G121G,LMNTD1:NM_001145729:exon4:c.G363A:p.G121G,LMNTD1:NM_001256266:exon4:c.G9A:p.G3G	ENST00000539744.1,ENST00000445693.1,ENST00000458174.2,ENST00000282881.6,ENST00000413632.2	.	12p12.1	.	.	.	.	.	rs138534907	.	.	0.0215947	0.0238	0.00519169	0.0003	0.0032	0.0286	0.0160796200613	0.018028856851	.	.	.	.	.	.	.	.	-0.669	-0.872	1.198542,11.74	.	AC=2;AN=4;BQB=0.988166;DP4=12,3,7,2;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0474718;SF=0,20;SGB=-0.556411;VDB=0.0550934	GT:DP:DV:PL	0/1:13:4:136,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:5:181,0,199	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	12	31237519	rs373057083	G	A	222	PASS	DDX11	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	exonic	NM_001257144,NM_001257145,NM_004399,NM_030653,NM_152438	.	synonymous SNV	DDX11:NM_001257144:exon4:c.G396A:p.A132A,DDX11:NM_001257145:exon4:c.G318A:p.A106A,DDX11:NM_004399:exon4:c.G396A:p.A132A,DDX11:NM_030653:exon4:c.G396A:p.A132A,DDX11:NM_152438:exon4:c.G396A:p.A132A	ENST00000407793.2,ENST00000542838.1,ENST00000350437.4,ENST00000228264.6,ENST00000545668.1,ENST00000251758.5	.	12p11.21	.	.	.	Score=0.978886;Name=chr12:9567144	.	rs373057083	.	.	0	.	0.000599042	7.7e-05	0.0001	0.0010	0.00142045	.	.	.	.	.	.	.	.	.	0.493	0.357	.	.	AC=1;AN=2;BQB=0.858082;DP4=27,25,26,15;DP=127;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.455793;MQSB=0.624725;RPB=0.475841;SF=20;SGB=-0.693145;VDB=0.570346	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:41:255,0,255	.	.	.	.	G	A	0	1	Warsaw breakage syndrome, 613398 (3)	.	.	.	23033317|20137776|17189189|15520935|12421752|9013641|8833153|8798685	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;G2_M_TRANSITION_OF_MITOTIC_CELL_CYCLE;M_PHASE;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;INTERPHASE;CELL_CYCLE_PROCESS;MITOTIC_SISTER_CHROMATID_SEGREGATION;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;S_PHASE;CHROMOSOME_SEGREGATION;CELL_PROLIFERATION_GO_0008283;S_PHASE_OF_MITOTIC_CELL_CYCLE;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;MITOSIS;CELL_CYCLE_GO_0007049;SISTER_CHROMATID_SEGREGATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	
L	12	31246230	rs371444906	G	T	222	PASS	DDX11	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	exonic	NM_001257144,NM_001257145,NM_004399,NM_030653,NM_152438	.	missense SNV	DDX11:NM_001257144:exon12:c.G1341T:p.L447F,DDX11:NM_001257145:exon12:c.G1263T:p.L421F,DDX11:NM_004399:exon12:c.G1341T:p.L447F,DDX11:NM_030653:exon12:c.G1341T:p.L447F,DDX11:NM_152438:exon12:c.G1341T:p.L447F	ENST00000407793.2,ENST00000542838.1,ENST00000539673.1,ENST00000350437.4,ENST00000228264.6,ENST00000545668.1,ENST00000251758.5	.	12p11.21	.	.	Score=913;Name=V$MSX1_01	Score=0.978886;Name=chr12:9567144	.	rs371444906	.	.	.	.	.	.	2.526e-05	0.0004	.	.	0.019,D	0.967,D	0.999,D	1,D	0.015878,N	2.97,M	-0.77,T	10.4529	1.801	2.144	3.939890,23.5	3.52	AC=1;AN=2;BQB=0.747733;DP4=85,25,78,9;DP=284;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.726;MQSB=0.999803;RPB=0.23578;SF=20;SGB=-0.693147;VDB=0.00325106	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:197:87:255,0,255	.	.	.	.	G	T	0	1	Warsaw breakage syndrome, 613398 (3)	.	.	.	23033317|20137776|17189189|15520935|12421752|9013641|8833153|8798685	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;G2_M_TRANSITION_OF_MITOTIC_CELL_CYCLE;M_PHASE;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;INTERPHASE;CELL_CYCLE_PROCESS;MITOTIC_SISTER_CHROMATID_SEGREGATION;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;S_PHASE;CHROMOSOME_SEGREGATION;CELL_PROLIFERATION_GO_0008283;S_PHASE_OF_MITOTIC_CELL_CYCLE;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;MITOSIS;CELL_CYCLE_GO_0007049;SISTER_CHROMATID_SEGREGATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_ACTIVATION_OF_CHAPERONE_GENES_BY_XBP1S;REACTOME_UNFOLDED_PROTEIN_RESPONSE	
H	12	32133921	rs189614467	C	T	189	PASS	KIAA1551	KIAA1551	exonic	NM_018169	.	missense SNV	KIAA1551:NM_018169:exon4:c.C32T:p.T11I	ENST00000535596.1,ENST00000312561.4	.	12p11.21	.	.	.	.	.	rs189614467	.	.	0.00664452	0.004	0.000798722	.	0.0003	0.0046	0.00664452	0.00721153911058	0.0,D	0.012,B	0.017,B	1,N	0.888728,N	0.625,N	2.9,T	0.3279	0.128	0.369	.	.	AC=1;AN=2;BQB=0.996008;DP4=12,3,8,1;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.652391;SF=20;SGB=-0.662043;VDB=0.822117	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:9:222,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	12	32754252	rs201915829	C	T	222	PASS	FGD4	FYVE, RhoGEF and PH domain containing 4	exonic	NM_001304480,NM_001304481,NM_139241	.	missense SNV	FGD4:NM_001304480:exon6:c.C1067T:p.S356L,FGD4:NM_001304481:exon6:c.C986T:p.S329L,FGD4:NM_139241:exon6:c.C731T:p.S244L	ENST00000546442.1,ENST00000534526.2,ENST00000531134.1,ENST00000381025.3,ENST00000266482.3,ENST00000427716.2,ENST00000525053.1	.	12p11.21	.	.	.	.	Score=213;Name="968819:MIRb(SINE)"	rs201915829	.	.	0.00498339	0.005	0.000998403	.	0.0002	0.0012	0.00306278528331	0.00498339	0.015,D	0.961,D	1.0,D	1,D	0.000736,D	0.665,N	0.17,T	18.18	2.517	7.423	7.332135,34	4.86	AC=1;AN=2;BQB=0.968257;DP4=11,7,7,5;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.571189;SF=20;SGB=-0.680642;VDB=0.820586	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:12:255,0,255	.	.	.	.	C	T	0	1	Charcot-Marie-Tooth disease, type 4H, 609311 (3)	.	.	.	19332693|19221294|17564972|17564959|15744041|15133042|11527409|11429692|9668039	REGULATION_OF_BIOLOGICAL_QUALITY;REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_HYDROLASE_ACTIVITY;REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RHO_GTPASE_ACTIVITY;REGULATION_OF_CELL_SHAPE;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CELL_MORPHOGENESIS;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;ANATOMICAL_STRUCTURE_DEVELOPMENT;REGULATION_OF_GTPASE_ACTIVITY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;CELL_PROJECTION_BIOGENESIS;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_GTPASE_ACTIVITY;RHO_PROTEIN_SIGNAL_TRANSDUCTION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;LAMELLIPODIUM;CELL_PROJECTION;RUFFLE;LEADING_EDGE	GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	12	32778611	rs188104446	C	G	139	PASS	FGD4	FYVE, RhoGEF and PH domain containing 4	exonic	NM_001304480,NM_001304481,NM_001304483,NM_001304484,NM_139241	.	synonymous SNV	FGD4:NM_001304480:exon14:c.C1995G:p.A665A,FGD4:NM_001304481:exon14:c.C1914G:p.A638A,FGD4:NM_139241:exon14:c.C1659G:p.A553A,FGD4:NM_001304483:exon15:c.C915G:p.A305A,FGD4:NM_001304484:exon15:c.C627G:p.A209A	ENST00000546442.1,ENST00000534526.2,ENST00000531134.1,ENST00000266482.3,ENST00000427716.2,ENST00000525053.1	.	12p11.21	.	.	.	.	.	rs188104446	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000174806.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.00996678	0.0159	0.00359425	.	0.0011	0.0133	0.00765697001531	0.00841346449519	.	.	.	.	.	.	.	.	-0.506	-0.240	1.739707,14.63	.	AC=1;AN=2;BQB=0.968368;DP4=3,0,10,0;DP=14;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.839457;SF=20;SGB=-0.670168;VDB=0.491369	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:10:174,0,58	.	.	.	.	C	G	0	1	Charcot-Marie-Tooth disease, type 4H, 609311 (3)	.	.	.	19332693|19221294|17564972|17564959|15744041|15133042|11527409|11429692|9668039	REGULATION_OF_BIOLOGICAL_QUALITY;REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_HYDROLASE_ACTIVITY;REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RHO_GTPASE_ACTIVITY;REGULATION_OF_CELL_SHAPE;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CELL_MORPHOGENESIS;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;ANATOMICAL_STRUCTURE_DEVELOPMENT;REGULATION_OF_GTPASE_ACTIVITY;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;CELL_PROJECTION_BIOGENESIS;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_GTPASE_ACTIVITY;RHO_PROTEIN_SIGNAL_TRANSDUCTION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;LAMELLIPODIUM;CELL_PROJECTION;RUFFLE;LEADING_EDGE	GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	BP6
H	12	40158610	rs547975454	T	C	184	PASS	SLC2A13	solute carrier family 2 (facilitated glucose transporter), member 13	exonic	NM_052885	.	missense SNV	SLC2A13:NM_052885:exon8:c.A1496G:p.N499S	ENST00000280871.4	.	12q12	.	.	.	.	.	rs547975454	.	.	0.00166113	0.001	0.000199681	.	7.496e-05	0.0010	0.00166113	0.00166113	0.541,T	0.009,B	0.001,B	0.999839,D	0.091163,N	.	0.43,T	10.0162	0.816	5.705	1.533516,13.49	3.98	AC=1;AN=2;BQB=0.930232;DP4=7,5,4,3;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999108;SF=20;SGB=-0.636426;VDB=0.643019	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:19:7:217,0,255	.	.	.	.	T	C	0	1	Solute carrier family 2 (facilitated glucose transporter), member 13	.	.	.	11500374	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS	
H	12	40876719	rs373210042	G	A	89.44	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs373210042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.685	-4.271	2.623459,20.3	.	AC=9;AN=18;BQB=0.0127543;DP4=2672,1167,722,323;DP=6386;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.125499;MQSB=0.643263;RPB=0;SF=0,2,7,11,13,17,20,22,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:635:118:134,0,255	.	0/1:580:113:68,0,255	.	.	.	.	0/1:564:112:68,0,255	.	.	.	0/1:745:266:255,0,255	.	0/1:608:111:74,0,255	.	.	.	0/1:474:80:71,0,255	.	.	0/1:622:119:153,0,255	.	0/1:78:14:147,0,255	.	0/1:578:112:151,0,255	G	A	0	9	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40876727	rs796759221	G	A	204	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs796759221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.080	3.312450,22.9	.	AC=11;AN=22;BQB=5.2948e-16;DP4=3148,1099,1179,674;DP=9472;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=1.09123e-08;MQSB=0.849184;RPB=4.2039e-45;SF=0,2,3,7,11,13,17,19,20,22,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:648:173:229,0,255	.	0/1:581:159:237,0,255	0/1:555:158:255,0,255	.	.	.	0/1:571:165:249,0,255	.	.	.	0/1:756:374:255,0,255	.	0/1:622:185:242,0,255	.	.	.	0/1:482:140:254,0,255	.	0/1:590:147:202,0,255	0/1:625:186:255,0,255	.	0/1:73:18:231,0,255	.	0/1:597:148:211,0,255	G	A	0	11	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40876740	rs79082631	C	T	91.89	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs79082631	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	-1.739	-0.884	.	.	AC=9;AN=18;BQB=1.73896e-18;DP4=2825,1083,726,410;DP=7718;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=2.53403e-13;MQSB=0.972662;RPB=0;SF=0,2,7,11,13,17,20,22,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:664:137:111,0,255	.	0/1:582:113:114,0,255	.	.	.	.	0/1:594:127:84,0,255	.	.	.	0/1:773:275:255,0,255	.	0/1:627:128:90,0,255	.	.	.	0/1:485:97:57,0,255	.	.	0/1:646:136:171,0,255	.	0/1:69:15:180,0,255	.	0/1:604:108:83,0,255	C	T	0	9	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40876741	.	A	G	112.25	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.037	-0.815	.	.	AC=8;AN=16;BQB=3.88801e-22;DP4=2546,981,613,388;DP=6798;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=1.1205e-12;MQSB=0.999762;RPB=0;SF=0,2,7,11,13,17,20,22;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:672:138:155,0,255	.	0/1:595:111:115,0,255	.	.	.	.	0/1:613:123:128,0,255	.	.	.	0/1:790:267:255,0,255	.	0/1:644:123:139,0,255	.	.	.	0/1:485:92:97,0,255	.	.	0/1:655:131:116,0,255	.	0/1:74:16:177,0,255	.	.	A	G	0	8	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40876930	rs201549706	A	G	92.8	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs201549706	.	.	.	.	.	.	0	.	.	0.0391304	.	.	.	.	.	.	.	.	-1.248	-2.951	.	.	AC=5;AN=10;BQB=0.189947;DP4=1669,829,124,438;DP=4073;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.50556;MQSB=0.790075;RPB=7.65597e-21;SF=2,11,17,20,24;SGB=-0.693147;VDB=1.62381e-28	GT:DP:DV:PL	.	.	0/1:572:98:111,0,255	.	.	.	.	.	.	.	.	0/1:782:186:255,0,255	.	.	.	.	.	0/1:465:73:88,0,255	.	.	0/1:685:111:96,0,255	.	.	.	0/1:556:94:92,0,255	A	G	0	5	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40880309	rs78968767	G	C	224.74	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs78968767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.073	-10.059	.	.	AC=35;AN=46;BQB=0.999844;DP4=1084,896,1678,2349;DP=7351;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.000624349;MQSB=0.998636;RPB=0.000120533;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=9.78707e-27	GT:DP:DV:PL	1/1:246:238:255,255,0	0/1:286:93:255,0,255	1/1:224:217:255,255,0	1/1:223:207:255,255,0	0/1:306:102:255,0,255	1/1:400:398:255,255,0	1/1:236:235:255,255,0	0/1:330:110:255,0,255	0/1:287:115:255,0,255	.	1/1:211:210:255,255,0	1/1:277:251:255,255,0	0/1:282:94:255,0,255	1/1:237:226:255,255,0	0/1:236:96:255,0,255	0/1:461:264:255,0,255	.	1/1:154:143:255,208,0	1/1:205:202:255,255,0	0/1:295:90:255,0,255	1/1:287:270:255,255,0	0/1:359:141:255,0,255	0/1:38:30:255,0,71	0/1:192:67:255,0,255	1/1:235:228:255,255,0	G	C	12	11	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880332	rs866401086	C	G	196.7	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs866401086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.653	-6.393	.	.	AC=33;AN=46;BQB=0.990847;DP4=1028,899,761,1596;DP=5116;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.00160091;MQSB=0.385154;RPB=4.68502e-10;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.31486e-37	GT:DP:DV:PL	1/1:161:145:255,129,0	0/1:235:52:163,0,255	1/1:139:124:255,104,0	0/1:133:110:255,0,18	0/1:262:63:155,0,255	1/1:261:258:255,255,0	1/1:143:142:255,255,0	0/1:267:57:94,0,255	0/1:215:59:196,0,255	.	1/1:116:115:255,255,0	0/1:193:148:255,0,37	0/1:239:52:143,0,255	1/1:143:126:255,87,0	0/1:185:61:255,0,255	0/1:329:150:255,0,255	.	1/1:98:85:255,14,0	1/1:112:111:255,255,0	0/1:263:68:204,0,255	1/1:182:158:255,120,0	0/1:276:73:209,0,255	0/1:29:20:255,0,95	0/1:152:40:255,0,255	1/1:151:140:255,186,0	C	G	10	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880335	.	A	G	204.04	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.092	-13.123	.	.	AC=33;AN=46;BQB=0.99167;DP4=1022,791,710,1589;DP=4875;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.00429829;MQSB=0.370426;RPB=7.53471e-09;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=2.17026e-36	GT:DP:DV:PL	1/1:157:143:255,163,0	0/1:217:51:208,0,255	1/1:140:123:255,86,0	0/1:130:104:255,0,49	0/1:246:60:169,0,255	1/1:253:250:255,255,0	1/1:139:138:255,255,0	0/1:249:55:128,0,255	0/1:203:60:222,0,255	.	1/1:111:110:255,255,0	0/1:190:144:255,0,23	0/1:222:51:172,0,255	1/1:140:121:255,61,0	0/1:176:59:255,0,255	0/1:315:149:255,0,255	.	1/1:98:83:255,0,3	1/1:113:112:255,255,0	0/1:258:69:211,0,255	1/1:173:148:255,89,0	0/1:257:70:224,0,255	0/1:26:17:255,0,102	0/1:145:40:255,0,255	1/1:154:142:255,179,0	A	G	10	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880337	.	G	C	195.87	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	-2.254	.	.	AC=32;AN=46;BQB=0.998863;DP4=1031,907,716,1579;DP=4876;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.00137385;MQSB=0.377935;RPB=1.51081e-10;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=3.68678e-39	GT:DP:DV:PL	1/1:158:141:255,108,0	0/1:228:51:177,0,255	1/1:142:123:255,68,0	0/1:136:106:255,0,98	0/1:261:58:125,0,255	1/1:256:251:255,255,0	1/1:141:139:255,255,0	0/1:269:57:100,0,255	0/1:211:59:206,0,255	.	1/1:113:112:255,255,0	0/1:191:144:255,0,71	0/1:236:50:134,0,255	1/1:142:122:255,54,0	0/1:185:61:255,0,255	0/1:322:145:255,0,255	.	0/1:98:82:255,0,15	1/1:110:109:255,255,0	0/1:263:68:194,0,255	1/1:175:150:255,87,0	0/1:272:70:216,0,255	0/1:27:18:255,0,99	0/1:148:40:255,0,255	1/1:149:139:255,196,0	G	C	9	14	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880339	.	C	G	202.78	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.427	-9.807	.	.	AC=32;AN=46;BQB=0.619735;DP4=1008,858,715,1599;DP=4851;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=0.000996685;MQSB=0.301194;RPB=2.00092e-10;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.62485e-36	GT:DP:DV:PL	1/1:159:142:255,131,0	0/1:221:50:194,0,255	1/1:145:124:255,55,0	0/1:132:103:255,0,95	0/1:252:60:157,0,255	1/1:256:254:255,255,0	1/1:140:140:255,255,0	0/1:262:57:122,0,255	0/1:206:60:220,0,255	.	1/1:113:113:255,255,0	0/1:195:147:255,0,45	0/1:223:51:169,0,255	1/1:140:121:255,60,0	0/1:182:60:255,0,255	0/1:318:149:255,0,255	.	0/1:100:84:255,0,11	1/1:113:113:255,255,0	0/1:253:68:220,0,255	1/1:176:150:255,87,0	0/1:268:70:228,0,255	0/1:27:18:255,0,99	0/1:146:40:255,0,255	1/1:153:140:255,163,0	C	G	9	14	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880350	.	C	G	189.77	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.365	-1.502	.	.	AC=29;AN=46;BQB=0.917096;DP4=990,927,615,1538;DP=4648;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.00396854;MQSB=0.0272576;RPB=1.31965e-11;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=6.72426e-34	GT:DP:DV:PL	1/1:144:123:255,25,0	0/1:212:51:200,0,255	0/1:148:120:255,0,3	0/1:128:98:255,0,84	0/1:252:55:88,0,255	1/1:237:233:255,255,0	1/1:129:129:255,255,0	0/1:250:49:76,0,255	0/1:205:57:197,0,255	.	1/1:99:99:255,255,0	0/1:200:140:255,0,103	0/1:226:46:117,0,255	0/1:143:116:255,0,4	0/1:179:58:254,0,255	0/1:315:140:255,0,255	.	0/1:100:80:255,0,50	1/1:112:110:255,255,0	0/1:247:59:156,0,255	0/1:176:142:255,0,6	0/1:266:67:186,0,255	0/1:26:17:255,0,112	0/1:136:37:255,0,255	1/1:140:127:255,129,0	C	G	6	17	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880362	.	C	G	181.19	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	-1.414	.	.	AC=15;AN=30;BQB=0.796304;DP4=388,366,127,706;DP=1799;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.802778;MQSB=0.136173;RPB=9.83372e-18;SF=0,2,3,5,6,10,11,13,15,17,18,20,22,23,24;SGB=-0.693147;VDB=4.48093e-27	GT:DP:DV:PL	0/1:111:68:250,0,255	.	0/1:110:59:250,0,255	0/1:102:49:255,0,255	.	0/1:141:107:253,0,69	0/1:82:71:241,0,7	.	.	.	0/1:55:45:255,0,67	0/1:161:67:228,0,255	.	0/1:93:56:253,0,255	.	0/1:242:65:124,0,255	.	0/1:79:39:184,0,255	0/1:78:58:216,0,96	.	0/1:114:62:255,0,255	.	0/1:21:8:129,0,202	0/1:110:18:75,0,255	0/1:88:61:252,0,212	C	G	0	15	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880365	.	A	T	181.14	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.742	-5.489	.	.	AC=15,3;AN=28;BQB=0.995995;DP4=372,101,110,855;DP=1522;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.863816;MQSB=0.73929;RPB=2.25536e-08;SF=0,2,3,5,6,10,11,13,15,17,18,20,22,24;SGB=-0.693147;VDB=0.374027	GT:DP:DV:PL	0/1:105:76:200,0,116,.,.,.	.	0/1:111:76:227,0,133,.,.,.	0/1:104:63:255,0,178,.,.,.	.	1/2:132:130:255,255,50,255,0,245	1/1:75:75:255,216,23,.,.,.	.	.	.	1/2:51:51:255,201,77,255,0,255	0/1:164:83:216,0,205,.,.,.	.	0/1:96:64:246,0,136,.,.,.	.	0/1:230:78:146,0,255,.,.,.	.	0/1:75:49:174,0,145,.,.,.	1/2:76:76:255,255,101,255,0,214	.	0/1:110:70:255,0,153,.,.,.	.	0/1:21:11:115,0,132,.,.,.	.	0/1:88:63:247,0,114,.,.,.	A	T,G	1	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880365	.	A	G	181.14	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.742	-5.489	.	.	AC=15,3;AN=28;BQB=0.995995;DP4=372,101,110,855;DP=1522;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.863816;MQSB=0.73929;RPB=2.25536e-08;SF=0,2,3,5,6,10,11,13,15,17,18,20,22,24;SGB=-0.693147;VDB=0.374027	GT:DP:DV:PL	0/1:105:76:200,0,116,.,.,.	.	0/1:111:76:227,0,133,.,.,.	0/1:104:63:255,0,178,.,.,.	.	1/2:132:130:255,255,50,255,0,245	1/1:75:75:255,216,23,.,.,.	.	.	.	1/2:51:51:255,201,77,255,0,255	0/1:164:83:216,0,205,.,.,.	.	0/1:96:64:246,0,136,.,.,.	.	0/1:230:78:146,0,255,.,.,.	.	0/1:75:49:174,0,145,.,.,.	1/2:76:76:255,255,101,255,0,214	.	0/1:110:70:255,0,153,.,.,.	.	0/1:21:11:115,0,132,.,.,.	.	0/1:88:63:247,0,114,.,.,.	A	T,G	1	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880368	.	A	T	182.13	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.174	-5.996	.	.	AC=19;AN=30;BQB=0.951295;DP4=430,165,102,859;DP=1731;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.977089;MQSB=0.699136;RPB=3.12209e-08;SF=0,2,3,5,6,10,11,13,14,15,17,18,20,22,24;SGB=-0.693147;VDB=0.891068	GT:DP:DV:PL	0/1:106:75:162,0,104	.	0/1:104:69:220,0,124	0/1:101:59:255,0,177	.	1/1:128:127:255,255,0	1/1:74:74:255,223,0	.	.	.	1/1:51:51:255,154,0	0/1:160:79:238,0,211	.	0/1:97:63:255,0,132	0/1:146:35:86,0,255	0/1:229:75:168,0,255	.	0/1:72:44:169,0,145	1/1:74:74:255,223,0	.	0/1:104:65:255,0,145	.	0/1:22:11:140,0,147	.	0/1:88:60:239,0,121	A	T	4	11	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880376	rs796619926	G	A	138.2	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs796619926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.616	-1.009	.	.	AC=21;AN=34;BQB=0.975551;DP4=538,299,49,1442;DP=2598;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.878694;MQSB=0.878694;RPB=0.244966;SF=0,2,3,5,6,8,10,11,13,14,15,17,18,20,22,23,24;SGB=-0.693147;VDB=1	GT:DP:DV:PL	0/1:136:99:136,0,79	.	0/1:130:93:149,0,89	0/1:141:95:183,0,137	.	1/1:177:176:255,255,0	1/1:106:106:255,255,0	.	0/1:175:49:68,0,255	.	1/1:91:90:255,249,0	0/1:216:124:221,0,169	.	0/1:120:85:160,0,98	0/1:152:46:90,0,255	0/1:267:112:160,0,255	.	0/1:101:66:161,0,129	1/1:108:108:237,255,0	.	0/1:160:109:171,0,110	.	0/1:28:17:160,0,143	0/1:104:28:80,0,255	0/1:116:88:155,0,68	G	A	4	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40880427	rs370171939	G	C	150.19	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs370171939	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	-0.647	-2.553	.	.	AC=20;AN=32;BQB=0.963112;DP4=932,136,2,1507;DP=2676;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=0.999848;MQSB=0.999848;RPB=0.342593;SF=0,2,3,5,6,10,11,13,14,15,17,18,20,22,23,24;SGB=-0.693147;VDB=1.41273e-15	GT:DP:DV:PL	0/1:179:99:187,0,170	.	0/1:175:97:176,0,170	0/1:211:124:194,0,181	.	1/1:155:153:255,255,0	1/1:106:105:237,255,0	.	.	.	1/1:124:120:195,251,0	0/1:295:126:174,0,214	.	0/1:158:76:175,0,181	0/1:143:43:91,0,255	0/1:297:143:195,0,255	.	0/1:158:74:170,0,183	1/1:116:114:230,255,0	.	0/1:201:111:191,0,173	.	0/1:41:20:175,0,200	0/1:77:20:91,0,255	0/1:141:84:173,0,151	G	C	4	12	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40880465	rs112864659	A	G	141.88	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs112864659	.	.	.	.	.	.	.	.	.	0.0217391	.	.	.	.	.	.	.	.	-1.972	-5.967	.	.	AC=20;AN=32;BQB=0.00738081;DP4=1342,161,4,1631;DP=3548;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=1.20476e-05;MQSB=0.000113012;RPB=1.76053e-12;SF=0,2,3,5,6,8,10,11,13,14,15,17,18,20,22,24;SGB=-0.693147;VDB=3.63556e-22	GT:DP:DV:PL	0/1:232:103:175,0,255	.	0/1:217:104:176,0,255	0/1:244:130:206,0,255	.	1/1:173:166:250,255,0	1/1:115:110:233,255,0	.	0/1:206:61:69,0,255	.	1/1:134:131:255,255,0	0/1:378:133:87,0,255	.	0/1:197:78:150,0,255	0/1:149:45:87,0,255	0/1:292:144:201,0,255	.	0/1:200:77:141,0,255	1/1:134:128:199,250,0	.	0/1:250:116:187,0,255	.	0/1:37:21:183,0,199	.	0/1:180:88:178,0,255	A	G	4	12	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40880507	rs201910735	A	G	85.76	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs201910735	.	.	.	.	.	.	.	.	.	0.104348	.	.	.	.	.	.	.	.	-0.975	-1.653	.	.	AC=13;AN=18;BQB=0.000687525;DP4=618,120,2,667;DP=1718;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=1.26765e-07;MQSB=0.000322869;RPB=1.58473e-18;SF=3,5,6,10,15,18,20,22,24;SGB=-0.693147;VDB=2.84749e-16	GT:DP:DV:PL	.	.	.	0/1:250:88:117,0,255	.	1/1:109:95:119,53,0	1/1:78:67:142,43,0	.	.	.	1/1:98:90:160,121,0	.	.	.	.	0/1:271:99:136,0,255	.	.	1/1:97:83:127,41,0	.	0/1:265:78:57,0,255	.	0/1:34:11:131,0,255	.	0/1:205:58:59,0,255	A	G	4	5	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40882026	rs2452316	A	T	223.42	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs2452316	.	.	.	.	.	.	.	.	.	0.0695652	.	.	.	.	.	.	.	.	0.717	-0.139	.	.	AC=11,4;AN=24;BQB=0.702152;DP4=1259,907,1445,789;DP=6317;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.338259;MQSB=0.234137;RPB=0.00397774;SF=0,1,5,6,10,14,15,18,20,22,23,24;SGB=-0.693147;VDB=0.540182	GT:DP:DV:PL	0/1:572:265:255,0,255,.,.,.	0/1:510:227:255,0,255,.,.,.	.	.	.	0/1:310:208:255,0,255,.,.,.	1/1:287:286:255,255,0,.,.,.	.	.	.	2/2:54:54:255,.,.,163,.,0	.	.	.	0/1:443:244:255,0,255,.,.,.	0/1:616:234:255,0,255,.,.,.	.	.	2/2:53:52:255,.,.,134,.,0	.	0/1:645:264:255,0,255,.,.,.	.	0/1:85:31:255,0,255,.,.,.	0/1:287:126:255,0,255,.,.,.	0/1:538:243:255,0,255,.,.,.	A	G,T	3	9	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40882578	rs61916092	T	G	116.46	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs61916092	.	.	.	.	.	.	.	.	.	0.0521739	.	.	.	.	.	.	.	.	-0.254	-3.008	.	.	AC=8;AN=16;BQB=0.444025;DP4=2641,1003,494,368;DP=6656;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.0783452;MQSB=0.0240477;RPB=3.50204e-09;SF=0,1,6,14,20,22,23,24;SGB=-0.693147;VDB=2.64047e-08	GT:DP:DV:PL	0/1:823:125:97,0,255	0/1:592:116:103,0,255	.	.	.	.	0/1:380:121:255,0,255	.	.	.	.	.	.	.	0/1:584:118:211,0,255	.	.	.	.	.	0/1:778:126:120,0,255	.	0/1:116:21:135,0,255	0/1:476:97:234,0,255	0/1:757:138:59,0,255	T	G	0	8	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40882632	rs200982622	A	G	162.71	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs200982622	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	.	.	.	.	.	-1.643	-1.713	.	.	AC=13;AN=26;BQB=0.000273542;DP4=2774,1348,1256,301;DP=8821;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.05659;MQSB=1.24375e-18;RPB=0.000105632;SF=0,2,3,5,6,11,13,14,17,20,22,23,24;SGB=-0.693147;VDB=2.91698e-12	GT:DP:DV:PL	0/1:738:201:255,0,255	.	0/1:342:109:225,0,255	0/1:301:67:101,0,255	.	0/1:264:83:255,0,255	0/1:301:62:142,0,255	.	.	.	.	0/1:729:224:250,0,255	.	0/1:398:140:255,0,255	0/1:486:74:63,0,255	.	.	0/1:271:81:193,0,255	.	.	0/1:708:209:255,0,255	.	0/1:84:27:255,0,255	0/1:381:60:57,0,255	0/1:676:220:255,0,255	A	G	0	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40882654	rs200018064	A	G	157.01	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs200018064	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	-3.101	-1.901	.	.	AC=8;AN=16;BQB=3.59553e-13;DP4=1651,806,805,87;DP=5123;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=0.000176646;MQSB=9.45169e-05;RPB=0.0216351;SF=2,3,11,13,17,20,22,24;SGB=-0.693147;VDB=1.02498e-18	GT:DP:DV:PL	.	.	0/1:338:108:255,0,255	0/1:296:64:97,0,255	.	.	.	.	.	.	.	0/1:748:219:240,0,255	.	0/1:383:138:255,0,255	.	.	.	0/1:276:79:215,0,255	.	.	0/1:638:124:73,0,255	.	0/1:76:15:138,0,255	.	0/1:594:145:255,0,255	A	G	0	8	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40883585	.	A	T	214.8	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.836	-4.889	.	.	AC=28,2;AN=36;BQB=0.956178;DP4=917,350,3392,1679;DP=8688;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.932346;MQSB=0.982231;RPB=0.98856;SF=0,1,2,3,5,6,7,10,11,13,14,15,17,19,20,22,23,24;SGB=-0.693147;VDB=0.360222	GT:DP:DV:PL	1/1:553:553:255,255,0,.,.,.	0/1:448:237:255,0,255,.,.,.	1/1:228:228:255,255,0,.,.,.	1/1:255:255:255,255,0,.,.,.	.	1/1:215:215:255,255,0,.,.,.	1/1:254:254:255,255,0,.,.,.	0/1:543:279:255,0,255,.,.,.	.	.	2/2:3:3:54,.,.,9,.,0	1/1:574:574:255,255,0,.,.,.	.	1/1:272:272:255,255,0,.,.,.	0/1:384:207:255,0,255,.,.,.	0/1:440:242:255,0,255,.,.,.	.	1/1:211:211:255,255,0,.,.,.	.	0/1:530:286:255,0,255,.,.,.	1/1:542:542:255,255,0,.,.,.	.	1/1:83:83:255,250,0,.,.,.	0/1:338:166:255,0,255,.,.,.	1/1:465:464:255,255,0,.,.,.	A	G,T	12	6	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40884236	rs61916101	A	G	134.65	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs61916101	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-0.915	-1.111	.	.	AC=13;AN=26;BQB=0.589164;DP4=2782,1978,1208,238;DP=8746;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.00859318;MQSB=0.205649;RPB=3.73026e-42;SF=1,5,6,10,12,13,14,15,18,20,21,22,23;SGB=-0.693147;VDB=6.9828e-38	GT:DP:DV:PL	.	0/1:519:95:116,0,255	.	.	.	0/1:462:158:255,0,255	0/1:568:182:255,0,255	.	.	.	0/1:566:175:255,0,255	.	0/1:488:85:109,0,255	0/1:548:92:91,0,255	0/1:440:76:131,0,255	0/1:447:84:75,0,255	.	.	0/1:547:172:255,0,255	.	0/1:564:105:103,0,255	0/1:611:123:133,0,255	0/1:80:15:181,0,255	0/1:366:84:247,0,255	.	A	G	0	13	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40884241	rs61916102	A	C	164.83	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs61916102	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-1.410	-1.981	.	.	AC=20;AN=40;BQB=0.958623;DP4=4121,2986,1788,611;DP=13431;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.000709675;MQSB=0.29752;RPB=6.82078e-40;SF=0,1,2,3,4,5,6,8,10,12,13,14,15,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:519:105:162,0,255	0/1:511:113:255,0,255	0/1:511:101:81,0,255	0/1:480:90:128,0,255	0/1:502:102:121,0,255	0/1:462:195:255,0,255	0/1:556:213:255,0,255	.	0/1:536:115:157,0,255	.	0/1:565:198:255,0,255	.	0/1:469:105:217,0,255	0/1:523:105:167,0,255	0/1:439:97:255,0,255	0/1:432:97:175,0,255	.	0/1:417:91:190,0,255	0/1:529:206:255,0,255	.	0/1:541:124:214,0,255	0/1:600:146:206,0,255	0/1:81:20:255,0,255	0/1:359:91:255,0,255	0/1:474:85:129,0,255	A	C	0	20	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40884533	rs12822472	G	T	222.55	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs12822472	.	.	.	.	.	.	.	.	.	0.113043	.	.	.	.	.	.	.	.	-0.646	-2.137	.	.	AC=12;AN=22;BQB=0.829978;DP4=1430,447,1665,584;DP=5605;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.996619;MQSB=0.998856;RPB=0.635628;SF=0,2,3,7,11,13,17,19,20,22,24;SGB=-0.693147;VDB=0.236478	GT:DP:DV:PL	0/1:415:201:255,0,255	.	0/1:410:201:255,0,255	0/1:417:193:255,0,255	.	.	.	0/1:415:211:255,0,255	.	.	.	1/1:426:426:255,255,0	.	0/1:426:221:255,0,255	.	.	.	0/1:299:155:255,0,255	.	0/1:410:209:255,0,255	0/1:456:223:255,0,255	.	0/1:63:29:255,0,255	.	0/1:389:180:255,0,255	G	T	1	10	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40884757	rs200694240	C	G	134.75	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs200694240	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	-0.234	-1.552	.	.	AC=19;AN=38;BQB=2.83748e-08;DP4=4738,2166,1101,1185;DP=12488;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.621591;MQSB=0.652837;RPB=1.58461e-33;SF=0,1,2,4,5,6,8,10,12,13,14,15,17,18,20,21,22,23,24;SGB=-0.693147;VDB=1.14651e-34	GT:DP:DV:PL	0/1:598:100:81,0,255	0/1:480:103:200,0,255	0/1:562:123:159,0,255	.	0/1:490:86:71,0,255	0/1:434:156:255,0,255	0/1:544:212:255,0,255	.	0/1:554:112:68,0,255	.	0/1:524:213:255,0,255	.	0/1:498:99:143,0,255	0/1:531:112:208,0,255	0/1:414:91:150,0,255	0/1:520:124:160,0,255	.	0/1:395:81:134,0,255	0/1:556:214:255,0,255	.	0/1:562:137:210,0,255	0/1:615:130:81,0,255	0/1:80:17:208,0,255	0/1:354:70:193,0,255	0/1:479:106:136,0,255	C	G	0	19	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40884758	rs78354426	A	T	182.6	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs78354426	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-1.128	-3.084	.	.	AC=20;AN=40;BQB=2.60936e-09;DP4=4911,1927,1407,1272;DP=13149;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.594209;MQSB=0.582896;RPB=1.31988e-36;SF=0,1,2,3,4,5,6,8,10,12,13,14,15,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0	GT:DP:DV:PL	0/1:587:115:118,0,255	0/1:480:108:208,0,255	0/1:548:132:222,0,255	0/1:509:101:151,0,255	0/1:477:106:191,0,255	0/1:427:180:255,0,255	0/1:538:234:255,0,255	.	0/1:532:127:203,0,255	.	0/1:514:243:255,0,255	.	0/1:480:120:194,0,255	0/1:526:123:238,0,255	0/1:406:101:248,0,255	0/1:502:137:255,0,255	.	0/1:385:83:168,0,255	0/1:547:249:255,0,255	.	0/1:560:156:255,0,255	0/1:599:138:175,0,255	0/1:83:23:255,0,255	0/1:343:86:255,0,255	0/1:474:117:186,0,255	A	T	0	20	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
H	12	40884986	rs368749839	A	C	222	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs368749839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.825	-2.803	.	.	AC=2;AN=4;BQB=0.886659;DP4=189,177,211,155;DP=978;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.828318;SF=20,24;SGB=-0.693147;VDB=0.139135	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:401:195:255,0,255	.	.	.	0/1:331:171:255,0,255	A	C	0	2	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
H	12	40935636	rs376066372	A	G	222	PASS	MUC19	mucin 19, oligomeric	exonic	NM_173600	.	unknown	UNKNOWN	ENST00000454784.4	.	12q12	.	.	.	.	.	rs376066372	.	.	0.00166113	0.002	0.000399361	.	.	.	.	0.00166113	.	.	.	.	.	.	.	.	-0.430	0.065	.	.	AC=2;AN=4;BQB=0.810528;DP4=20,25,17,25;DP=117;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.320531;SF=20,24;SGB=-0.692067;VDB=0.0807459	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:20:255,0,255	.	.	.	0/1:43:22:255,0,255	A	G	0	2	Mucin 19, oligomeric	.	.	.	12882755	.	.	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	12	42629601	rs73114498	A	T	222	PASS	YAF2	YY1 associated factor 2	exonic	NM_001190980	.	synonymous SNV	YAF2:NM_001190980:exon3:c.T351A:p.A117A	ENST00000534854.2,ENST00000541702.2,ENST00000327791.4,ENST00000442791.3,ENST00000555248.2,ENST00000380790.4,ENST00000380788.3	.	12q12	.	.	.	.	.	rs73114498	.	.	0.0431894	0.0397	0.0389377	.	0.0425	0.0202	0.0227273	0.0396634889423	.	.	.	.	.	.	.	.	-0.140	-0.050	2.397824,18.81	.	AC=1;AN=2;BQB=0.981811;DP4=8,3,10,4;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.805909;SF=20;SGB=-0.686358;VDB=0.950629	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:14:255,0,255	.	.	.	.	A	T	0	1	YY1-associated factor 2	.	.	.	11953439|9016636	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
L	12	44194265	rs17093734	A	G	97.4	PASS	TWF1	twinfilin actin binding protein 1	exonic	NM_001242397,NM_002822	.	synonymous SNV	TWF1:NM_001242397:exon4:c.T351C:p.I117I,TWF1:NM_002822:exon4:c.T351C:p.I117I	ENST00000552521.1,ENST00000325127.4,ENST00000548315.1,ENST00000395510.2	.	12q12	.	.	.	.	.	rs17093734	.	.	0.051495	0.0476	0.0375399	0.0134	0.0302	0.0476	0.051495	0.0432692103365	.	.	.	.	.	.	.	.	1.081	2.336	.	4.52	AC=5;AN=10;BQB=0.562708;DP4=31,0,23,1;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.964642;MQSB=1;RPB=0.924449;SF=7,9,20,23,24;SGB=-0.636426;VDB=0.173752	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:11:7:190,0,86	.	0/1:12:6:160,0,136	.	.	.	.	.	.	.	.	.	.	0/1:10:4:89,0,164	.	.	0/1:11:3:95,0,204	0/1:11:4:120,0,174	A	G	0	5	Twinfilin, Drosophila, homolog of, 1	.	.	.	19783987|17360616|10669753|7507208	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
L	12	44196125	rs112006889	T	C	160.25	PASS	TWF1	twinfilin actin binding protein 1	exonic	NM_001242397,NM_002822	.	synonymous SNV	TWF1:NM_001242397:exon3:c.A246G:p.E82E,TWF1:NM_002822:exon3:c.A246G:p.E82E	ENST00000552521.1,ENST00000325127.4,ENST00000548315.1,ENST00000547564.1,ENST00000395510.2	.	12q12	.	.	Score=889;Name=V$OCT1_02	.	.	rs112006889	.	.	0.0531561	0.0556	0.0495208	0.0225	0.0332	0.0492	0.0531561	0.0444711120192	.	.	.	.	.	.	.	.	-0.589	0.026	.	.	AC=4;AN=8;BQB=0.77718;DP4=22,7,25,9;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.875173;MQSB=0.862013;RPB=0.586646;SF=7,20,23,24;SGB=-0.616816;VDB=0.226058	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:14:6:156,0,217	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:12:246,0,217	.	.	0/1:6:4:116,0,50	0/1:23:12:255,0,253	T	C	0	4	Twinfilin, Drosophila, homolog of, 1	.	.	.	19783987|17360616|10669753|7507208	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
L	12	45815024	rs201212498	G	A	222	PASS	ANO6	anoctamin 6	exonic	NM_001025356,NM_001142678,NM_001142679,NM_001204803	.	synonymous SNV	ANO6:NM_001025356:exon18:c.G2388A:p.P796P,ANO6:NM_001142678:exon18:c.G2334A:p.P778P,ANO6:NM_001142679:exon18:c.G2388A:p.P796P,ANO6:NM_001204803:exon19:c.G2451A:p.P817P	ENST00000441606.2,ENST00000425752.2,ENST00000435642.1,ENST00000423947.3,ENST00000320560.8	.	12q12	.	.	.	.	.	rs201212498	.	.	.	.	.	.	5.814e-05	0	.	.	.	.	.	.	.	.	.	.	-4.633	-2.582	.	.	AC=1;AN=2;BQB=0.680447;DP4=11,8,10,6;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.443686;SF=20;SGB=-0.689466;VDB=0.379028	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:16:255,0,255	.	.	.	.	G	A	0	1	Scott syndrome, 262890 (3)	.	.	.	21107324|15067359|7989579	.	.	.	.	.	.	.	PM2
L	12	48361934	.	A	G	222	PASS	TMEM106C	transmembrane protein 106C	exonic	NM_001143841,NM_001143842,NM_001143843,NM_024056	.	synonymous SNV	TMEM106C:NM_001143841:exon8:c.A618G:p.S206S,TMEM106C:NM_001143842:exon8:c.A675G:p.S225S,TMEM106C:NM_001143843:exon8:c.A618G:p.S206S,TMEM106C:NM_024056:exon8:c.A675G:p.S225S	ENST00000429772.2,ENST00000550552.1,ENST00000449758.2,ENST00000549288.1,ENST00000552546.1,ENST00000552561.1,ENST00000256686.6	.	12q13.11	.	.	Score=686;Name=V$BRACH_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,D	.	.	.	6.4303	-1.783	-3.873	1.001305,10.67	.	AC=1;AN=2;BQB=0.988335;DP4=15,3,28,1;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.971441;SF=20;SGB=-0.693079;VDB=0.107428	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:29:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	12	48379502	rs371857655	G	T	222	PASS	COL2A1	collagen, type II, alpha 1	splicing	NM_001844,NM_033150	NM_001844:exon25:c.1680+9C>A;NM_033150:exon24:c.1473+9C>A	.	.	ENST00000337299.6,ENST00000493991.1,ENST00000380518.3	.	12q13.11	.	.	.	.	.	rs371857655	.	.	.	.	.	7.7e-05	2.534e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-0.015	-0.347	.	.	AC=1;AN=2;BQB=0.999976;DP4=17,13,21,12;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999905;SF=20;SGB=-0.693127;VDB=0.462861	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:33:255,0,255	.	.	.	.	G	T	0	1	Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3); Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900 (3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); SED, Namaqualand type (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3); Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)	.	.	.	26183434|23770606|21671384|19764028|17726487|17721977|17394019|16752401|16189708|16155195|16088915|15930420|15895462|15671297|15316962|15266623|15054848|14729840|14338642|14299791|12968670|12939326|12544472|12205109|11812423|11771668|11746045|11410667|11007540|10982970|10797431|10706362|10678662|10406661|9854047|9800905|9711874|9556660|9468540|9101290|9066888|8800435|8737653|8723097|8723096|8588574|8507190|8486375|8434604|8423604|8406454|8325895|8317498|8244341|8024616|7981752|7874117|7849719|7829510|7757086|7757081|7642541|7590256|7550321|7487609|6602578|6594770|6419953|6405037|6340584|6320112|6281728|6203098|4214536|4022769|4014370|3997150|3857598|3800925|3435042|3195588|3033664|3004202|3002437|2989526|2987919|2987845|2896625|2803268|2572591|2543071|2339128|2300123|2253935|2249483|1985108|1975693|1946380|1881905|1677770|1671423|1444917|1442006|1429602|1374906|407956|104811	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	
H	12	48379503	rs754310324	C	A	222	PASS	COL2A1	collagen, type II, alpha 1	splicing	NM_001844,NM_033150	NM_001844:exon25:c.1680+8G>T;NM_033150:exon24:c.1473+8G>T	.	.	ENST00000337299.6,ENST00000493991.1,ENST00000380518.3	.	12q13.11	.	.	.	.	.	rs754310324	.	.	.	.	.	.	2.536e-05	0.0001	.	.	.	.	.	.	.	.	.	.	0.452	-0.200	.	.	AC=1;AN=2;BQB=0.979844;DP4=17,13,21,13;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998892;SF=20;SGB=-0.693132;VDB=0.442196	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:34:255,0,255	.	.	.	.	C	A	0	1	Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3); Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900 (3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); SED, Namaqualand type (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3); Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)	.	.	.	26183434|23770606|21671384|19764028|17726487|17721977|17394019|16752401|16189708|16155195|16088915|15930420|15895462|15671297|15316962|15266623|15054848|14729840|14338642|14299791|12968670|12939326|12544472|12205109|11812423|11771668|11746045|11410667|11007540|10982970|10797431|10706362|10678662|10406661|9854047|9800905|9711874|9556660|9468540|9101290|9066888|8800435|8737653|8723097|8723096|8588574|8507190|8486375|8434604|8423604|8406454|8325895|8317498|8244341|8024616|7981752|7874117|7849719|7829510|7757086|7757081|7642541|7590256|7550321|7487609|6602578|6594770|6419953|6405037|6340584|6320112|6281728|6203098|4214536|4022769|4014370|3997150|3857598|3800925|3435042|3195588|3033664|3004202|3002437|2989526|2987919|2987845|2896625|2803268|2572591|2543071|2339128|2300123|2253935|2249483|1985108|1975693|1946380|1881905|1677770|1671423|1444917|1442006|1429602|1374906|407956|104811	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	PID_INTEGRIN1_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_SIGNALING_BY_PDGF;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	
L	12	51019802	rs146296554	C	T	131.86	PASS	DIP2B	disco-interacting protein 2 homolog B	exonic	NM_173602	.	synonymous SNV	DIP2B:NM_173602:exon2:c.C144T:p.L48L	ENST00000301180.5	.	12q13.12	.	.	.	.	.	rs146296554	.	.	0.0232558	0.0218	0.00439297	.	0.0015	0.0215	0.0245023004594	0.0228365199519	.	.	.	.	.	.	.	.	0.672	-0.744	1.538912,13.52	.	AC=2;AN=4;BQB=0.148458;DP4=15,8,10,8;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=0.982603;RPB=0.697274;SF=5,20;SGB=-0.556411;VDB=0.164317	GT:DP:DV:PL	.	.	.	.	.	0/1:12:4:76,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:14:255,0,255	.	.	.	.	C	T	0	2	Mental retardation, FRA12A type, 136630 (3)	.	.	.	17236128|10819331	.	.	.	.	.	.	.	
H	12	51237699	rs369846570	G	T	222	PASS	TMPRSS12	transmembrane (C-terminal) protease, serine 12	exonic	NM_182559	.	missense SNV	TMPRSS12:NM_182559:exon2:c.G262T:p.A88S	ENST00000398458.3,ENST00000551456.1	.	12q13.12	.	.	Score=763;Name=V$PAX5_02	.	.	rs369846570	.	.	.	.	.	.	0.0002	0.0029	.	0.00434783	0.077,T	0.298,B	0.488,P	1,N	0.147264,N	0.08,N	0.3,T	4.1262	0.254	1.373	.	.	AC=1;AN=2;BQB=0.946153;DP4=13,6,12,5;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.972155;SF=20;SGB=-0.690438;VDB=0.00745262	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:17:255,0,255	.	.	.	.	G	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	12	52307028	rs56080682	C	T	222	PASS	ACVRL1	activin A receptor type II-like 1	exonic	NM_000020,NM_001077401	.	synonymous SNV	ACVRL1:NM_001077401:exon2:c.C207T:p.C69C,ACVRL1:NM_000020:exon3:c.C207T:p.C69C	ENST00000550683.1,ENST00000419526.2,ENST00000388922.4	.	12q13.13	.	.	.	.	.	rs56080682	.	.	0.0265781	0.0238	0.00698882	0.0002	0.0025	0.0240	0.0191424369066	0.0265781	.	.	.	.	.	.	.	.	-0.900	-0.396	1.663793,14.20	.	AC=2;AN=4;BQB=0.905813;DP4=45,13,31,7;DP=133;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961309;SF=4,20;SGB=-0.690438;VDB=0.498799	GT:DP:DV:PL	.	.	.	.	0/1:45:17:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:21:255,0,255	.	.	.	.	C	T	0	2	Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)	.	.	.	20501893|18312453|18285823|17786384|16542389|16470787|16282348|15879500|15611116|15024723|14684682|12970115|12700602|12668602|12588795|11484696|11484689|11170071|11062473|10767348|10323406|9501322|9245985|8640225|8397373|8242742|8199354	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;FOCAL_ADHESION_FORMATION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_CELL_MIGRATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_FORMATION;ORGAN_MORPHOGENESIS;CELL_SUBSTRATE_ADHESION;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;ANGIOGENESIS;NEGATIVE_REGULATION_OF_CELL_ADHESION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;VASCULATURE_DEVELOPMENT;CELL_CELL_ADHESION;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;REGULATION_OF_BLOOD_PRESSURE;TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELL_MATRIX_ADHESION;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_EXTERNAL_STIMULUS;WOUND_HEALING;REGULATION_OF_CELL_CELL_ADHESION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;RESPONSE_TO_WOUNDING;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELL_MIGRATION;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_CELL_MIGRATION;SYSTEM_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	NUCLEOTIDE_BINDING;TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;SMAD_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GROWTH_FACTOR_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;CYTOKINE_BINDING;ATP_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_ALK1PATHWAY	.	.	
L	12	53012255	rs74778340	G	A	222	PASS	KRT73	keratin 73, type II	exonic	NM_175068	.	synonymous SNV	KRT73:NM_175068:exon1:c.C54T:p.S18S	ENST00000305748.3	.	12q13.13	.	.	.	.	.	rs74778340	.	.	0.00166113	0.001	0.000199681	7.7e-05	8.398e-05	0.0010	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-1.319	-3.389	0.921105,10.20	.	AC=1;AN=2;BQB=0.996129;DP4=3,18,5,12;DP=44;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.895547;SF=20;SGB=-0.690438;VDB=0.0452911	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:17:255,0,255	.	.	.	.	G	A	0	1	Keratin 73	.	.	.	12648212	.	.	.	.	.	.	.	
L	12	53189427	.	C	G	159.38	PASS	KRT3	keratin 3, type II	exonic	NM_057088	.	missense SNV	KRT3:NM_057088:exon1:c.G400C:p.A134P	ENST00000417996.2,ENST00000309505.3	.	12q13.13	.	.	.	.	Score=328;Name="998997:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	0.114,T	0.001,B	0.001,B	1,N	0.034957,N	1.445,L	-1.95,D	7.7249	-0.174	-0.074	.	.	AC=8;AN=16;BQB=0.466776;DP4=120,56,67,38;DP=314;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00105192;SF=3,5,13,17,19,20,21,22;SGB=-0.651104;VDB=8.95587e-05	GT:DP:DV:PL	.	.	.	0/1:20:8:183,0,195	.	0/1:59:25:255,0,255	.	.	.	.	.	.	.	0/1:31:9:204,0,255	.	.	.	0/1:21:6:107,0,255	.	0/1:37:13:222,0,255	0/1:25:6:104,0,255	0/1:69:28:255,0,255	0/1:19:10:212,0,202	.	.	C	G	0	8	Meesmann corneal dystrophy, 122100 (3)	.	.	.	18806880|16227835|9171831|8977471|7510223|6979375|6186379|2424919	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;EPITHELIAL_CELL_DIFFERENTIATION;MORPHOGENESIS_OF_AN_EPITHELIUM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PM2
L	12	53189428	rs184322044	C	A	155.5	PASS	KRT3	keratin 3, type II	exonic	NM_057088	.	synonymous SNV	KRT3:NM_057088:exon1:c.G399T:p.G133G	ENST00000417996.2,ENST00000309505.3	.	12q13.13	.	.	.	.	Score=328;Name="998997:(CCA)n(Simple_repeat)"	rs184322044	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	-3.067	-8.329	.	.	AC=8;AN=16;BQB=0.146607;DP4=107,57,66,42;DP=310;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00117088;SF=3,5,13,17,19,20,21,22;SGB=-0.662043;VDB=5.39084e-05	GT:DP:DV:PL	.	.	.	0/1:19:9:213,0,161	.	0/1:59:26:255,0,255	.	.	.	.	.	.	.	0/1:27:8:190,0,255	.	.	.	0/1:21:6:107,0,255	.	0/1:37:13:216,0,255	0/1:23:6:104,0,255	0/1:68:32:255,0,255	0/1:18:8:171,0,196	.	.	C	A	0	8	Meesmann corneal dystrophy, 122100 (3)	.	.	.	18806880|16227835|9171831|8977471|7510223|6979375|6186379|2424919	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;EPITHELIAL_CELL_DIFFERENTIATION;MORPHOGENESIS_OF_AN_EPITHELIUM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
L	12	53189431	rs142692092	T	A	149.17	PASS	KRT3	keratin 3, type II	exonic	NM_057088	.	synonymous SNV	KRT3:NM_057088:exon1:c.A396T:p.G132G	ENST00000417996.2,ENST00000309505.3	.	12q13.13	.	.	.	.	Score=328;Name="998997:(CCA)n(Simple_repeat)"	rs142692092	.	.	.	.	.	.	3.626e-05	0	.	.	.	.	.	.	.	.	.	.	-3.468	-4.516	.	.	AC=10;AN=20;BQB=0.955563;DP4=148,77,77,59;DP=465;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00408677;SF=3,5,13,17,18,19,20,21,22,24;SGB=-0.676189;VDB=9.69643e-07	GT:DP:DV:PL	.	.	.	0/1:17:11:238,0,122	.	0/1:56:27:255,0,255	.	.	.	.	.	.	.	0/1:24:10:239,0,245	.	.	.	0/1:20:6:109,0,255	0/1:28:5:67,0,255	0/1:30:13:237,0,255	0/1:22:8:152,0,255	0/1:66:35:255,0,255	0/1:16:9:200,0,161	.	0/1:82:12:77,0,255	T	A	0	10	Meesmann corneal dystrophy, 122100 (3)	.	.	.	18806880|16227835|9171831|8977471|7510223|6979375|6186379|2424919	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;EPITHELIAL_CELL_DIFFERENTIATION;MORPHOGENESIS_OF_AN_EPITHELIUM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PM2
L	12	53189446	rs117364830	C	T	61.9	PASS	KRT3	keratin 3, type II	exonic	NM_057088	.	synonymous SNV	KRT3:NM_057088:exon1:c.G381A:p.G127G	ENST00000417996.2,ENST00000309505.3	.	12q13.13	.	.	.	.	Score=328;Name="998997:(CCA)n(Simple_repeat)"	rs117364830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.016	-6.550	1.456393,13.08	.	AC=4;AN=8;BQB=0.691476;DP4=111,35,21,15;DP=390;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00139213;SF=17,20,21,22;SGB=-0.616816;VDB=0.000852857	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:6:110,0,255	.	.	0/1:32:8:129,0,255	0/1:93:16:72,0,255	0/1:32:6:76,0,255	.	.	C	T	0	4	Meesmann corneal dystrophy, 122100 (3)	.	.	.	18806880|16227835|9171831|8977471|7510223|6979375|6186379|2424919	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;EPITHELIAL_CELL_DIFFERENTIATION;MORPHOGENESIS_OF_AN_EPITHELIUM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PM2
L	12	53189449	rs147386788	T	A	42.9	PASS	KRT3	keratin 3, type II	exonic	NM_057088	.	synonymous SNV	KRT3:NM_057088:exon1:c.A378T:p.G126G	ENST00000417996.2,ENST00000309505.3	.	12q13.13	.	.	.	.	Score=328;Name="998997:(CCA)n(Simple_repeat)"	rs147386788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.224	-3.033	.	.	AC=2;AN=4;BQB=0.220282;DP4=45,9,4,8;DP=129;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.000834937;SF=20,22;SGB=-0.636426;VDB=0.000258261	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:7:95,0,255	.	0/1:33:5:62,0,255	.	.	T	A	0	2	Meesmann corneal dystrophy, 122100 (3)	.	.	.	18806880|16227835|9171831|8977471|7510223|6979375|6186379|2424919	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;EPITHELIAL_CELL_DIFFERENTIATION;MORPHOGENESIS_OF_AN_EPITHELIUM;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	PM2
H	12	53342951	rs201179094	G	A	75.17	PASS	KRT18	keratin 18, type I	splicing	NM_199187	.	.	.	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs201179094	.	.	.	.	.	.	2.547e-05	0	.	0.0695652	.	.	.	.	.	.	.	.	-4.315	-2.007	.	.	AC=11;AN=22;BQB=0.924449;DP4=36,6,59,0;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=0.0401934;MQSB=1;RPB=0.643095;SF=2,4,10,11,17,18,19,20,21,22,24;SGB=-0.636426;VDB=0.00587426	GT:DP:DV:PL	.	.	0/1:11:7:128,0,99	.	0/1:7:6:120,0,16	.	.	.	.	.	0/1:11:6:130,0,147	0/1:9:4:88,0,169	.	.	.	.	.	0/1:9:6:126,0,78	0/1:11:6:120,0,105	0/1:10:5:88,0,156	0/1:7:3:74,0,110	0/1:10:5:91,0,107	0/1:7:5:109,0,48	.	0/1:9:6:120,0,69	G	A	0	11	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53342968	rs76301931	C	T	71.06	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C11T:p.T4I,KRT18:NM_199187:exon2:c.C11T:p.T4I	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs76301931	.	.	.	.	.	.	2.556e-05	0	.	0.0913043	0.007,D	0.18,B	0.267,B	1,D	0.228726,N	1.525,L	-1.65,D	8.4324	0.204	1.052	2.778276,21.3	.	AC=17;AN=34;BQB=0;DP4=69,11,90,0;DP=196;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0;MQSB=1;RPB=1;SF=0,2,3,4,6,7,8,10,11,17,18,19,20,21,22,23,24;SGB=-0.453602;VDB=0.7	GT:DP:DV:PL	0/1:4:2:56,0,98	.	0/1:11:7:132,0,99	0/1:8:3:77,0,105	0/1:11:7:128,0,91	.	0/1:8:3:56,0,139	0/1:8:3:55,0,152	0/1:4:3:89,0,25	.	0/1:11:6:132,0,147	0/1:11:5:102,0,199	.	.	.	.	.	0/1:13:8:158,0,109	0/1:11:6:120,0,105	0/1:11:6:111,0,131	0/1:8:4:86,0,123	0/1:13:8:134,0,100	0/1:11:8:137,0,63	0/1:16:5:81,0,213	0/1:11:6:120,0,128	C	T	0	17	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
L	12	53343005	rs80354424	G	A	100.16	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.G48A:p.L16L,KRT18:NM_199187:exon2:c.G48A:p.L16L	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs80354424	.	.	.	.	.	.	0.0004	0	.	0.234783	.	.	.	.	.	.	.	.	1.134	1.185	1.201974,11.76	2.78	AC=20;AN=40;BQB=0.462292;DP4=118,15,137,2;DP=343;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.115573;MQSB=1;RPB=0.809011;SF=0,1,2,3,4,5,6,7,8,10,11,12,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.228191	GT:DP:DV:PL	0/1:9:3:60,0,166	0/1:11:3:72,0,165	0/1:15:8:173,0,149	0/1:11:6:137,0,128	0/1:14:9:143,0,96	0/1:22:9:113,0,255	0/1:11:5:95,0,152	0/1:12:4:84,0,206	0/1:7:6:143,0,16	.	0/1:19:11:187,0,194	0/1:13:6:106,0,205	0/1:9:5:122,0,117	.	.	.	.	0/1:15:10:210,0,111	0/1:15:7:131,0,136	0/1:13:8:156,0,111	0/1:10:7:148,0,108	0/1:18:10:159,0,131	0/1:13:8:141,0,100	0/1:22:8:143,0,255	0/1:13:6:150,0,187	G	A	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343007	rs79476176	G	A	101.51	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G50A:p.G17D,KRT18:NM_199187:exon2:c.G50A:p.G17D	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs79476176	.	.	.	.	.	.	0.0004	0	.	0.234783	0.002,D	0.902,P	0.994,D	1,D	0.010491,N	2.365,M	-1.68,D	13.7674	2.375	3.299	5.524398,26.3	3.69	AC=20;AN=40;BQB=0.727822;DP4=120,16,138,2;DP=348;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.0559863;MQSB=1;RPB=0.895781;SF=0,1,2,3,4,5,6,7,8,10,11,12,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.8442	GT:DP:DV:PL	0/1:10:4:89,0,164	0/1:11:3:72,0,165	0/1:16:9:181,0,147	0/1:12:6:135,0,160	0/1:15:9:142,0,117	0/1:22:9:113,0,255	0/1:11:5:95,0,142	0/1:12:4:84,0,206	0/1:7:6:143,0,16	.	0/1:19:11:182,0,194	0/1:13:6:106,0,207	0/1:9:5:124,0,128	.	.	.	.	0/1:15:10:202,0,111	0/1:15:7:131,0,136	0/1:12:7:149,0,127	0/1:10:7:148,0,108	0/1:18:10:159,0,128	0/1:13:8:141,0,100	0/1:23:8:152,0,255	0/1:13:6:150,0,187	G	A	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
M	12	53343033	rs78514003	G	A	102.72	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G76A:p.A26T,KRT18:NM_199187:exon2:c.G76A:p.A26T	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs78514003	.	.	.	.	.	.	.	.	.	0.23913	0.192,T	0.003,B	0.005,B	1,N	0.160822,N	0.55,N	-1.59,D	5.5183	0.897	0.502	.	2.59	AC=20;AN=40;BQB=0.916482;DP4=144,18,131,8;DP=393;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0916482;MQSB=1;RPB=0.916482;SF=0,1,2,3,4,5,6,7,8,10,11,12,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.228191	GT:DP:DV:PL	0/1:10:3:66,0,171	0/1:12:3:61,0,219	0/1:17:10:231,0,164	0/1:13:5:112,0,185	0/1:13:7:129,0,135	0/1:26:11:128,0,255	0/1:10:4:99,0,142	0/1:16:5:89,0,224	0/1:9:6:141,0,92	.	0/1:22:12:183,0,209	0/1:13:6:100,0,196	0/1:10:6:127,0,107	.	.	.	.	0/1:14:10:224,0,71	0/1:16:6:126,0,173	0/1:14:9:184,0,122	0/1:12:6:148,0,180	0/1:21:10:149,0,216	0/1:11:6:129,0,128	0/1:29:9:149,0,255	0/1:13:5:146,0,246	G	A	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343036	rs77825282	C	T	104.43	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C79T:p.R27W,KRT18:NM_199187:exon2:c.C79T:p.R27W	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs77825282	.	.	.	.	.	.	.	.	.	0.23913	0.023,D	0.001,B	0.001,B	0.75179,D	0.119889,N	1.305,L	-1.71,D	6.4941	1.106	1.079	2.066821,16.64	2.76	AC=19;AN=38;BQB=0.954207;DP4=141,18,124,9;DP=386;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.0497871;MQSB=0.214286;RPB=0.979382;SF=0,2,3,4,5,6,7,8,10,11,12,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.243476	GT:DP:DV:PL	0/1:11:3:63,0,181	.	0/1:16:9:223,0,182	0/1:15:6:128,0,192	0/1:12:6:113,0,138	0/1:26:11:128,0,255	0/1:10:4:99,0,142	0/1:15:4:71,0,224	0/1:9:6:135,0,92	.	0/1:22:12:192,0,209	0/1:13:6:106,0,196	0/1:12:7:136,0,127	.	.	.	.	0/1:14:10:228,0,78	0/1:16:6:126,0,171	0/1:15:9:175,0,147	0/1:10:4:109,0,184	0/1:22:10:154,0,215	0/1:11:6:140,0,128	0/1:30:9:146,0,255	0/1:13:5:146,0,246	C	T	0	19	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343040	rs74379840	C	A	95.17	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C83A:p.P28Q,KRT18:NM_199187:exon2:c.C83A:p.P28Q	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs74379840	.	.	.	.	.	.	.	.	.	0.23913	0.096,T	0.716,P	0.982,D	1,N	0.021014,N	1.915,L	-1.54,D	11.2202	1.106	1.610	2.783290,21.3	2.76	AC=20;AN=40;BQB=0.954207;DP4=154,21,126,9;DP=414;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.0497871;MQSB=1;RPB=0.979382;SF=0,1,2,3,4,5,6,7,8,10,11,12,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.243476	GT:DP:DV:PL	0/1:11:3:63,0,180	0/1:12:3:61,0,255	0/1:17:9:207,0,216	0/1:13:4:77,0,194	0/1:13:7:114,0,135	0/1:25:11:130,0,255	0/1:10:4:99,0,142	0/1:17:4:57,0,230	0/1:9:6:135,0,92	.	0/1:22:12:192,0,203	0/1:14:6:90,0,230	0/1:11:6:125,0,131	.	.	.	.	0/1:14:10:212,0,78	0/1:16:6:144,0,192	0/1:16:9:182,0,166	0/1:13:6:130,0,193	0/1:22:9:141,0,255	0/1:11:6:124,0,128	0/1:31:9:139,0,255	0/1:13:5:153,0,246	C	A	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343051	rs74953757	G	T	111.5	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G94T:p.A32S,KRT18:NM_199187:exon2:c.G94T:p.A32S	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs74953757	.	.	.	.	.	.	.	.	.	0.23913	0.164,T	0.688,P	0.91,P	1,D	0.002681,N	1.425,L	-1.7,D	9.474	1.153	0.457	2.321141,18.30	2.8	AC=21;AN=42;BQB=0.979382;DP4=169,23,129,17;DP=461;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.0497871;MQSB=1;RPB=0.979382;SF=0,1,2,3,4,5,6,7,8,10,11,12,14,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.251321	GT:DP:DV:PL	0/1:11:3:82,0,183	0/1:12:3:69,0,255	0/1:17:9:221,0,228	0/1:16:6:125,0,235	0/1:14:7:155,0,143	0/1:25:11:152,0,255	0/1:11:4:108,0,154	0/1:18:5:84,0,241	0/1:9:5:145,0,114	.	0/1:24:14:221,0,202	0/1:14:6:135,0,231	0/1:12:6:121,0,150	.	0/1:9:2:62,0,180	.	.	0/1:15:10:236,0,90	0/1:17:7:144,0,191	0/1:17:9:176,0,183	0/1:13:6:145,0,193	0/1:25:11:151,0,255	0/1:12:7:178,0,126	0/1:31:9:163,0,255	0/1:16:6:171,0,255	G	T	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343059	rs78343594	C	A	113.13	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C102A:p.S34R,KRT18:NM_199187:exon2:c.C102A:p.S34R	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs78343594	.	.	.	.	.	.	.	.	.	0.23913	0.001,D	0.081,B	0.087,B	1,D	0.000006,D	2.29,M	-1.84,D	6.2893	0.536	0.634	3.614814,23.2	.	AC=22;AN=44;BQB=0.125315;DP4=174,32,125,25;DP=479;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.0249144;MQSB=1;RPB=0.878264;SF=0,1,2,3,4,5,6,7,8,10,11,12,14,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.47843	GT:DP:DV:PL	0/1:12:4:77,0,212	0/1:13:3:58,0,255	0/1:17:9:221,0,228	0/1:17:7:150,0,234	0/1:14:7:179,0,143	0/1:25:12:167,0,255	0/1:11:4:115,0,177	0/1:21:5:87,0,255	0/1:11:5:124,0,143	.	0/1:24:14:221,0,224	0/1:14:6:152,0,231	0/1:13:6:119,0,166	.	0/1:8:2:65,0,162	0/1:9:3:68,0,162	.	0/1:13:8:207,0,123	0/1:17:7:163,0,191	0/1:16:8:189,0,185	0/1:14:6:140,0,189	0/1:26:12:201,0,255	0/1:12:7:181,0,126	0/1:32:9:169,0,255	0/1:17:6:171,0,255	C	A	0	22	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343069	rs77999286	G	T	106.68	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G112T:p.G38C,KRT18:NM_199187:exon2:c.G112T:p.G38C	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs77999286	.	.	.	.	.	.	.	.	.	0.23913	0.001,D	0.923,D	0.988,D	1,D	0.000057,D	3.005,M	-1.99,D	13.1865	2.224	9.732	4.721222,24.6	3.42	AC=22;AN=44;BQB=0.864302;DP4=178,39,101,42;DP=469;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0211283;MQSB=1;RPB=0.988166;SF=0,1,2,3,4,5,6,7,8,10,11,12,14,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.484771	GT:DP:DV:PL	0/1:13:4:113,0,218	0/1:13:3:58,0,255	0/1:17:9:197,0,231	0/1:17:6:130,0,240	0/1:16:8:215,0,153	0/1:25:11:167,0,255	0/1:11:4:115,0,184	0/1:22:6:81,0,255	0/1:11:5:151,0,140	.	0/1:24:13:190,0,234	0/1:14:6:138,0,223	0/1:13:6:128,0,182	.	0/1:11:2:56,0,214	0/1:9:3:68,0,157	.	0/1:15:9:237,0,173	0/1:16:6:128,0,192	0/1:17:9:198,0,172	0/1:13:4:101,0,205	0/1:24:10:168,0,255	0/1:11:5:148,0,162	0/1:31:9:180,0,255	0/1:17:5:119,0,255	G	T	0	22	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	PP3
L	12	53343071	rs75380684	C	T	112.29	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.C114T:p.G38G,KRT18:NM_199187:exon2:c.C114T:p.G38G	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs75380684	.	.	.	.	.	.	.	.	.	0.23913	.	.	.	.	.	.	.	.	0.555	-0.290	2.957633,22.1	.	AC=22;AN=44;BQB=0.864302;DP4=181,41,102,46;DP=469;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0211283;MQSB=1;RPB=0.988166;SF=0,1,2,3,4,5,6,7,8,10,11,12,14,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.491115	GT:DP:DV:PL	0/1:13:4:113,0,218	0/1:13:3:67,0,255	0/1:17:9:193,0,231	0/1:19:7:145,0,238	0/1:16:8:215,0,157	0/1:25:11:167,0,255	0/1:11:4:115,0,192	0/1:22:6:78,0,255	0/1:11:5:151,0,140	.	0/1:24:13:190,0,234	0/1:13:5:118,0,233	0/1:13:6:128,0,188	.	0/1:11:2:56,0,215	0/1:9:3:78,0,157	.	0/1:15:9:230,0,173	0/1:16:6:137,0,192	0/1:18:9:196,0,218	0/1:15:6:151,0,202	0/1:27:11:192,0,255	0/1:12:6:172,0,161	0/1:32:9:177,0,255	0/1:18:6:139,0,255	C	T	0	22	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
L	12	53343074	rs75174163	T	C	116	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.T117C:p.A39A,KRT18:NM_199187:exon2:c.T117C:p.A39A	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs75174163	.	.	.	.	.	.	.	.	.	0.23913	.	.	.	.	.	.	.	.	-2.005	-2.241	.	.	AC=22;AN=44;BQB=0.838046;DP4=168,40,104,48;DP=480;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.0249144;MQSB=1;RPB=1;SF=0,1,2,3,4,5,6,7,8,10,11,12,14,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.497461	GT:DP:DV:PL	0/1:12:4:116,0,205	0/1:12:3:69,0,242	0/1:16:9:203,0,192	0/1:18:7:148,0,213	0/1:18:10:220,0,144	0/1:25:11:167,0,255	0/1:11:4:115,0,192	0/1:22:6:89,0,255	0/1:9:5:156,0,94	.	0/1:22:13:192,0,187	0/1:12:6:143,0,188	0/1:13:6:128,0,176	.	0/1:11:2:56,0,199	0/1:10:3:76,0,171	.	0/1:14:9:239,0,117	0/1:15:6:140,0,146	0/1:17:10:197,0,179	0/1:16:6:148,0,207	0/1:27:11:192,0,255	0/1:11:6:174,0,137	0/1:30:9:183,0,255	0/1:19:6:136,0,255	T	C	0	22	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343084	rs75441140	G	C	125.7	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G127C:p.G43R,KRT18:NM_199187:exon2:c.G127C:p.G43R	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs75441140	.	.	.	.	.	.	.	.	.	0.217391	0.001,D	0.554,P	0.949,P	1,D	0.000057,D	3.075,M	-1.93,D	13.7674	2.375	4.042	3.966851,23.6	3.69	AC=20,1;AN=42;BQB=0.960789;DP4=184,42,104,56;DP=502;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0183156;MQSB=0.791667;RPB=0.960789;SF=0,1,2,3,4,5,6,7,8,10,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.497461	GT:DP:DV:PL	0/1:14:4:113,0,251,.,.,.	0/1:14:4:87,0,255,.,.,.	0/1:18:10:197,0,238,.,.,.	0/1:20:8:178,0,245,.,.,.	0/1:20:9:237,0,201,.,.,.	0/2:28:11:82,.,.,0,.,255	0/1:14:4:106,0,241,.,.,.	0/1:21:6:110,0,255,.,.,.	0/1:12:6:158,0,138,.,.,.	.	0/1:22:13:209,0,173,.,.,.	0/1:12:6:143,0,192,.,.,.	0/1:12:6:133,0,160,.,.,.	.	.	0/1:13:4:59,0,181,.,.,.	.	0/1:16:10:248,0,170,.,.,.	0/1:18:7:155,0,255,.,.,.	0/1:19:9:202,0,243,.,.,.	0/1:18:8:192,0,208,.,.,.	0/1:28:12:219,0,255,.,.,.	0/1:13:6:184,0,201,.,.,.	0/1:34:10:203,0,255,.,.,.	0/1:20:7:127,0,255,.,.,.	G	C,T	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	PP3
H	12	53343084	.	G	T	125.7	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G127T:p.G43C,KRT18:NM_199187:exon2:c.G127T:p.G43C	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0130435	0.0,D	0.997,D	1.0,D	1,D	0.000057,D	3.075,M	-2.0,D	13.7674	2.375	4.042	5.829786,27.2	3.69	AC=20,1;AN=42;BQB=0.960789;DP4=184,42,104,56;DP=502;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.0183156;MQSB=0.791667;RPB=0.960789;SF=0,1,2,3,4,5,6,7,8,10,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.497461	GT:DP:DV:PL	0/1:14:4:113,0,251,.,.,.	0/1:14:4:87,0,255,.,.,.	0/1:18:10:197,0,238,.,.,.	0/1:20:8:178,0,245,.,.,.	0/1:20:9:237,0,201,.,.,.	0/2:28:11:82,.,.,0,.,255	0/1:14:4:106,0,241,.,.,.	0/1:21:6:110,0,255,.,.,.	0/1:12:6:158,0,138,.,.,.	.	0/1:22:13:209,0,173,.,.,.	0/1:12:6:143,0,192,.,.,.	0/1:12:6:133,0,160,.,.,.	.	.	0/1:13:4:59,0,181,.,.,.	.	0/1:16:10:248,0,170,.,.,.	0/1:18:7:155,0,255,.,.,.	0/1:19:9:202,0,243,.,.,.	0/1:18:8:192,0,208,.,.,.	0/1:28:12:219,0,255,.,.,.	0/1:13:6:184,0,201,.,.,.	0/1:34:10:203,0,255,.,.,.	0/1:20:7:127,0,255,.,.,.	G	C,T	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	PP3
L	12	53343098	rs80004568	C	T	107.54	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.C141T:p.S47S,KRT18:NM_199187:exon2:c.C141T:p.S47S	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs80004568	.	.	.	.	.	.	.	.	.	0.230435	.	.	.	.	.	.	.	.	-0.033	0.424	2.471970,19.29	.	AC=22;AN=44;BQB=0.560378;DP4=198,54,84,74;DP=534;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.00780539;MQSB=0.641825;RPB=0.628992;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.701568	GT:DP:DV:PL	0/1:16:5:120,0,255	0/1:14:4:80,0,255	0/1:19:10:187,0,251	0/1:20:8:154,0,255	0/1:18:8:177,0,193	0/1:28:11:171,0,255	0/1:15:4:103,0,246	0/1:22:6:95,0,255	0/1:11:5:118,0,163	.	0/1:22:13:197,0,199	0/1:13:7:144,0,153	0/1:14:6:128,0,203	0/1:22:5:66,0,255	.	0/1:13:4:89,0,214	.	0/1:14:8:191,0,175	0/1:18:7:147,0,255	0/1:15:7:128,0,194	0/1:18:9:196,0,225	0/1:31:10:207,0,255	0/1:11:5:99,0,199	0/1:35:10:200,0,255	0/1:21:6:110,0,255	C	T	0	22	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343099	.	G	A	107.73	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G142A:p.V48M,KRT18:NM_199187:exon2:c.G142A:p.V48M	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230435	0.09,T	0.11,B	0.642,P	1,D	0.138376,N	0.615,N	-1.71,D	7.6655	0.219	-0.441	1.653936,14.15	.	AC=21;AN=42;BQB=0.396903;DP4=183,54,83,70;DP=500;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.00780539;MQSB=0.641825;RPB=0.628992;SF=0,1,2,3,4,5,6,8,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.697632	GT:DP:DV:PL	0/1:16:5:110,0,255	0/1:14:4:80,0,255	0/1:18:9:176,0,254	0/1:20:8:154,0,255	0/1:19:8:158,0,216	0/1:27:10:180,0,255	0/1:15:4:94,0,246	.	0/1:10:5:120,0,147	.	0/1:22:13:196,0,199	0/1:11:7:148,0,102	0/1:14:6:121,0,203	0/1:23:5:62,0,255	.	0/1:13:4:78,0,214	.	0/1:15:9:186,0,172	0/1:17:6:128,0,255	0/1:18:9:159,0,201	0/1:18:8:177,0,250	0/1:32:11:212,0,255	0/1:11:5:105,0,199	0/1:35:10:196,0,255	0/1:22:7:128,0,255	G	A	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343105	rs78479490	C	T	110.9	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C148T:p.R50C,KRT18:NM_199187:exon2:c.C148T:p.R50C	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs78479490	.	.	.	.	.	.	.	.	.	0.230435	0.065,T	0.004,B	0.003,B	1,D	0.000116,D	0.675,N	-1.7,D	8.9737	2.432	1.122	3.868024,23.5	3.79	AC=21;AN=42;BQB=0.926163;DP4=189,50,88,74;DP=518;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.0161635;MQSB=1;RPB=0.735784;SF=0,1,2,3,4,5,6,7,8,10,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.851686	GT:DP:DV:PL	0/1:15:4:94,0,255	0/1:14:4:87,0,255	0/1:19:10:182,0,252	0/1:21:8:142,0,255	0/1:19:9:190,0,162	0/1:29:11:183,0,255	0/1:16:5:98,0,224	0/1:23:6:93,0,255	0/1:13:6:120,0,173	.	0/1:23:14:199,0,197	0/1:14:8:161,0,137	0/1:14:6:128,0,203	.	.	0/1:13:4:78,0,214	.	0/1:13:8:163,0,159	0/1:19:7:145,0,255	0/1:18:10:176,0,222	0/1:19:9:187,0,248	0/1:32:10:179,0,255	0/1:11:5:92,0,199	0/1:34:11:210,0,255	0/1:22:7:128,0,255	C	T	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
L	12	53343120	rs78718957	A	C	97.08	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.A163C:p.R55R,KRT18:NM_199187:exon2:c.A163C:p.R55R	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs78718957	.	.	.	.	.	.	.	.	.	0.230435	.	.	.	.	.	.	.	.	0.589	1.373	.	.	AC=21;AN=42;BQB=0.79702;DP4=183,53,77,80;DP=525;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.00920968;MQSB=0.687289;RPB=0.934728;SF=0,2,3,4,5,6,7,8,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.720889	GT:DP:DV:PL	0/1:15:5:115,0,219	.	0/1:18:10:162,0,183	0/1:20:7:133,0,255	0/1:16:9:167,0,163	0/1:25:9:159,0,255	0/1:17:6:100,0,171	0/1:23:7:87,0,255	0/1:12:6:100,0,98	.	0/1:23:14:204,0,179	0/1:18:8:120,0,189	0/1:10:4:83,0,154	0/1:24:5:61,0,255	.	0/1:10:4:97,0,147	.	0/1:11:7:180,0,122	0/1:17:6:135,0,231	0/1:16:9:125,0,210	0/1:21:9:182,0,227	0/1:33:12:194,0,255	0/1:10:4:89,0,187	0/1:33:11:168,0,255	0/1:21:5:84,0,255	A	C	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343124	rs76183244	G	A	85.33	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.G167A:p.G56D,KRT18:NM_199187:exon2:c.G167A:p.G56D	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs76183244	.	.	.	.	.	.	2.627e-05	0	.	0.230435	0.051,T	0.015,B	0.017,B	1,D	0.240532,N	1.82,L	-1.85,D	11.4825	2.432	3.154	1.875577,15.44	3.79	AC=21;AN=42;BQB=0.960687;DP4=193,72,72,71;DP=522;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.00780539;MQSB=0.861658;RPB=0.560378;SF=0,2,3,4,5,6,7,8,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.728443	GT:DP:DV:PL	0/1:16:5:122,0,255	.	0/1:15:5:95,0,255	0/1:23:7:119,0,255	0/1:19:9:162,0,214	0/1:28:9:151,0,255	0/1:18:5:78,0,229	0/1:23:6:69,0,255	0/1:13:5:97,0,205	.	0/1:25:14:194,0,243	0/1:17:7:108,0,198	0/1:12:4:78,0,206	0/1:24:5:61,0,255	.	0/1:13:4:89,0,214	.	0/1:12:6:152,0,171	0/1:19:6:129,0,255	0/1:16:8:121,0,243	0/1:20:8:170,0,255	0/1:32:11:185,0,255	0/1:11:4:86,0,212	0/1:33:11:168,0,255	0/1:19:4:73,0,255	G	A	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343148	.	C	G	83.88	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.C191G:p.A64G,KRT18:NM_199187:exon2:c.C191G:p.A64G	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230435	0.592,T	0.009,B	0.028,B	0.999985,D	0.110641,N	1.53,L	-1.54,D	7.1234	0.176	0.114	.	.	AC=20;AN=40;BQB=0.837128;DP4=205,76,54,88;DP=513;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.00360656;MQSB=0.258028;RPB=0.293758;SF=0,2,3,4,5,6,7,8,10,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.125998	GT:DP:DV:PL	0/1:23:5:83,0,255	.	0/1:17:5:81,0,255	0/1:22:7:151,0,255	0/1:21:8:122,0,230	0/1:29:10:158,0,255	0/1:27:8:87,0,255	0/1:26:7:72,0,255	0/1:16:6:118,0,215	.	0/1:18:8:111,0,255	0/1:19:7:121,0,207	0/1:16:6:133,0,255	.	.	0/1:15:6:121,0,212	.	0/1:13:5:105,0,194	0/1:20:5:100,0,255	0/1:16:6:113,0,255	0/1:19:7:146,0,255	0/1:37:14:206,0,255	0/1:15:7:135,0,209	0/1:32:11:138,0,255	0/1:22:4:61,0,255	C	G	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
L	12	53343152	rs79913669	C	G	86.53	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	synonymous SNV	KRT18:NM_000224:exon1:c.C195G:p.T65T,KRT18:NM_199187:exon2:c.C195G:p.T65T	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs79913669	.	.	.	.	.	.	.	.	.	0.226087	.	.	.	.	.	.	.	.	-2.486	-1.978	.	.	AC=20;AN=40;BQB=0.855345;DP4=213,80,55,90;DP=529;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.00360656;MQSB=0.258028;RPB=0.293758;SF=0,2,3,4,5,6,7,8,10,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.133161	GT:DP:DV:PL	0/1:23:5:90,0,255	.	0/1:16:5:90,0,255	0/1:23:7:148,0,255	0/1:22:8:119,0,229	0/1:28:9:154,0,255	0/1:27:8:87,0,255	0/1:28:8:82,0,255	0/1:17:6:116,0,223	.	0/1:19:9:123,0,232	0/1:18:7:124,0,203	0/1:18:7:152,0,255	.	.	0/1:16:6:119,0,218	.	0/1:16:7:150,0,207	0/1:20:5:92,0,255	0/1:17:6:111,0,255	0/1:19:7:146,0,255	0/1:39:13:187,0,255	0/1:16:7:132,0,229	0/1:34:11:126,0,255	0/1:22:4:65,0,255	C	G	0	20	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
H	12	53343158	rs77364359	A	G	85.88	PASS	KRT18	keratin 18, type I	exonic	NM_000224,NM_199187	.	missense SNV	KRT18:NM_000224:exon1:c.A201G:p.I67M,KRT18:NM_199187:exon2:c.A201G:p.I67M	ENST00000550600.1,ENST00000388837.2,ENST00000552551.1,ENST00000549198.1,ENST00000388835.3,ENST00000546897.1	CpG: 38	12q13.13	.	.	.	.	.	rs77364359	.	.	.	.	.	.	.	.	.	0.230435	0.41,T	0.0,B	0.0,B	1,D	0.495065,N	-2.495,N	-1.58,D	5.8544	0.480	0.028	.	.	AC=21;AN=42;BQB=0.996974;DP4=240,83,61,95;DP=597;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.00216277;MQSB=0.24641;RPB=0.552148;SF=0,2,3,4,5,6,7,8,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.387746	GT:DP:DV:PL	0/1:21:6:102,0,255	.	0/1:19:5:70,0,255	0/1:23:7:150,0,255	0/1:21:8:117,0,197	0/1:30:9:133,0,255	0/1:29:8:82,0,255	0/1:33:11:139,0,255	0/1:16:6:118,0,210	.	0/1:19:9:123,0,242	0/1:17:6:107,0,203	0/1:18:7:152,0,243	0/1:27:5:75,0,255	.	0/1:16:6:108,0,218	.	0/1:18:7:148,0,244	0/1:22:6:116,0,255	0/1:21:7:103,0,255	0/1:19:8:158,0,255	0/1:40:15:204,0,255	0/1:15:6:118,0,231	0/1:32:10:135,0,255	0/1:23:4:62,0,255	A	G	0	21	Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)	.	.	.	12724528|9011570|8770877|8522591|7536183|3052284|2469635|1699878|1693358|1689217	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;POST_GOLGI_VESICLE_MEDIATED_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSPORT;SECRETION;GOLGI_VESICLE_TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CELLULAR_LOCALIZATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;INTERMEDIATE_FILAMENT;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	KEGG_PATHOGENIC_ESCHERICHIA_COLI_INFECTION	PID_CASPASE_PATHWAY	.	.	
L	12	53645645	rs117423151	C	T	222	PASS	MFSD5	major facilitator superfamily domain containing 5	exonic	NM_001170790	.	synonymous SNV	MFSD5:NM_001170790:exon1:c.C129T:p.C43C	ENST00000534842.1,ENST00000546655.1	.	12q13.13	.	.	.	.	.	rs117423151	.	.	0.00498339	0.0079	0.00179712	.	0.0002	0	.	0.0144230682452	.	.	.	.	.	.	.	.	-0.450	-0.830	.	.	AC=1;AN=2;BQB=0.970545;DP4=23,16,22,16;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99917;SF=20;SGB=-0.693143;VDB=0.305762	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:38:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	12	53671338	rs141112607	C	G	222	PASS	ESPL1	extra spindle pole bodies like 1, separase	exonic	NM_012291	.	missense SNV	ESPL1:NM_012291:exon10:c.C2170G:p.Q724E	ENST00000257934.4,ENST00000552462.1	.	12q13.13	.	.	.	.	.	rs141112607	.	.	.	.	.	0.0002	0.0003	0.0014	.	.	0.184,T	0.056,B	0.473,P	0.537752,N	0.000051,D	1.545,L	2.66,T	17.6159	2.699	2.375	2.178639,17.37	5.18	AC=1;AN=2;BQB=0.774142;DP4=19,6,29,10;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946928;SF=20;SGB=-0.693144;VDB=0.199434	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:39:255,0,255	.	.	.	.	C	G	0	1	Extra spindle poles-like 1	.	.	.	19345191|18728194|17664331|17210788|14605209|10411507|10403247|8724849	CELL_DEVELOPMENT;M_PHASE;PROGRAMMED_CELL_DEATH;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELL_CYCLE_PROCESS;MITOTIC_SISTER_CHROMATID_SEGREGATION;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CHROMOSOME_SEGREGATION;MITOSIS;CELL_CYCLE_GO_0007049;SISTER_CHROMATID_SEGREGATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;APOPTOSIS_GO;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS	.	.	.	
L	12	53680081	rs144484136	G	A	222	PASS	ESPL1	extra spindle pole bodies like 1, separase	exonic	NM_012291	.	synonymous SNV	ESPL1:NM_012291:exon18:c.G3561A:p.V1187V	ENST00000257934.4,ENST00000552462.1	.	12q13.13	.	.	Score=728;Name=V$NRSF_01	.	.	rs144484136	.	.	0.00498339	0.0079	0.00179712	.	0.0004	0.0054	0.00498339	0.0144230682452	.	.	.	.	.	.	.	.	0.349	0.137	0.929450,10.25	2.5	AC=1;AN=2;BQB=0.886776;DP4=21,19,28,20;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.572671;SF=20;SGB=-0.693147;VDB=0.583631	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:48:255,0,255	.	.	.	.	G	A	0	1	Extra spindle poles-like 1	.	.	.	19345191|18728194|17664331|17210788|14605209|10411507|10403247|8724849	CELL_DEVELOPMENT;M_PHASE;PROGRAMMED_CELL_DEATH;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CELL_CYCLE_PROCESS;MITOTIC_SISTER_CHROMATID_SEGREGATION;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CHROMOSOME_SEGREGATION;MITOSIS;CELL_CYCLE_GO_0007049;SISTER_CHROMATID_SEGREGATION;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;APOPTOSIS_GO;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS	.	.	.	
L	12	53693054	rs145140400	C	T	193	PASS	PFDN5	prefoldin subunit 5	exonic	NM_002624,NM_145897	.	synonymous SNV	PFDN5:NM_145897:exon4:c.C255T:p.A85A,PFDN5:NM_002624:exon6:c.C390T:p.A130A	ENST00000550263.1,ENST00000351500.3,ENST00000551018.1,ENST00000334478.4,ENST00000550846.1	.	12q13.13	.	.	.	.	.	rs145140400	.	.	0	.	0.000199681	7.7e-05	0.0002	0.0013	.	.	.	.	.	.	.	.	.	.	-0.030	0.440	1.420069,12.89	.	AC=1;AN=2;BQB=0.639909;DP4=17,7,9,1;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999821;SF=20;SGB=-0.670168;VDB=0.380974	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:10:227,0,255	.	.	.	.	C	T	0	1	Prefoldin 5	.	.	.	11106732|9792694|9630229	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION	CYTOPLASM;NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_P73PATHWAY	.	REACTOME_PREFOLDIN_MEDIATED_TRANSFER_OF_SUBSTRATE_TO_CCT_TRIC;REACTOME_PROTEIN_FOLDING;REACTOME_METABOLISM_OF_PROTEINS	
H	12	54105870	rs747133419	G	A	222	PASS	CALCOCO1	calcium binding and coiled-coil domain 1	exonic	NM_001143682,NM_020898	.	missense SNV	CALCOCO1:NM_001143682:exon14:c.C1679T:p.T560I,CALCOCO1:NM_020898:exon15:c.C1934T:p.T645I	ENST00000548263.1,ENST00000550804.1,ENST00000262059.4,ENST00000430117.2	.	12q13.13	.	.	Score=879;Name=V$NF1_Q6	.	.	rs747133419	.	.	.	.	.	.	0	0	.	.	0.008,D	0.067,B	0.18,B	1,D	0.052294,N	0.345,N	1.46,T	9.6894	1.015	4.513	2.660457,20.6	2.54	AC=1;AN=2;BQB=0.934495;DP4=10,9,12,15;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982181;SF=20;SGB=-0.693021;VDB=0.0791839	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:27:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY;INTRACELLULAR_RECEPTOR_MEDIATED_SIGNALING_PATHWAY;TRANSCRIPTION;INTRACELLULAR_SIGNALING_CASCADE	.	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_ERA_GENOMIC_PATHWAY	.	.	PM2
H	12	56863081	rs200746514	T	C	222	PASS	SPRYD4	SPRY domain containing 4	exonic	NM_207344	.	missense SNV	SPRYD4:NM_207344:exon2:c.T344C:p.I115T	ENST00000338146.5	.	12q13.3	.	.	.	.	.	rs200746514	.	.	0.00996678	0.0079	0.00159744	.	0.0005	0.0061	0.00996678	0.00841346449519	0.004,D	0.475,P	0.722,P	0.987471,D	0.000003,D	2.31,M	0.08,T	14.8255	2.208	7.035	5.298130,25.7	5.46	AC=2;AN=4;BQB=0.858669;DP4=74,38,79,33;DP=296;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.80764;SF=5,20;SGB=-0.693147;VDB=0.16973	GT:DP:DV:PL	.	.	.	.	.	0/1:131:71:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:41:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	PP3
L	12	57592034	rs200885149	C	T	222	PASS	LRP1	low density lipoprotein receptor-related protein 1	exonic	NM_002332	.	synonymous SNV	LRP1:NM_002332:exon59:c.C9378T:p.I3126I	ENST00000243077.3	.	12q13.3	.	.	Score=770;Name=V$PPARG_01	.	.	rs200885149	.	.	0.00498339	0.003	0.000998403	7.7e-05	0.0001	0.0005	0.00306278528331	0.00498339	.	.	.	.	.	.	.	.	-0.796	-1.315	1.939936,15.83	.	AC=2;AN=4;BQB=0.731694;DP4=46,7,34,4;DP=136;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.112266;SF=15,20;SGB=-0.683931;VDB=0.612432	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:13:255,0,255	.	.	.	.	0/1:55:25:255,0,255	.	.	.	.	C	T	0	2	Low density lipoprotein-related protein-1 (alpha-2-macroglobulin receptor)	.	.	.	23033978|21676865|20133524|18060043|17948131|17920016|16601674|16040006|15749709|15744306|15456862|15294142|12960961|12821648|12690199|12151109|11496365|11290339|11248808|11067868|10737120|9637403|9633759|9349534|9333264|9222170|9148246|8506301|7543026|3266596|2779654|2548950|1702392|1698775|1427818|1377168	LIPID_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;LIPOPROTEIN_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ION_BINDING;RECEPTOR_ACTIVITY;LIPID_TRANSPORTER_ACTIVITY	KEGG_ALZHEIMERS_DISEASE	PID_AMB2_NEUTROPHILS_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_PDGFRBPATHWAY	.	.	
M	12	66909431	rs150958775	G	A	222	PASS	GRIP1	glutamate receptor interacting protein 1	exonic	NM_001178074,NM_021150	.	missense SNV	GRIP1:NM_001178074:exon7:c.C692T:p.A231V,GRIP1:NM_021150:exon7:c.C692T:p.A231V	ENST00000398016.3,ENST00000286445.7,ENST00000359742.4	.	12q14.3	.	.	.	.	.	rs150958775	.	.	0.00830565	0.0149	0.00299521	.	0.0012	0.0167	0.007656967366	0.0084134625	0.359,T	0.027,B	0.005,B	0.999606,N	0.000000,D	-0.885,N	1.61,T	19.9987	2.738	5.396	.	5.78	AC=1;AN=2;BQB=0.855276;DP4=15,9,11,7;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.954553;SF=20;SGB=-0.691153;VDB=0.00912588	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:18:255,0,255	.	.	.	.	G	A	0	1	Fraser syndrome, 219000 (3)	.	.	.	22510445|16880404|15895086|14730302|12052960|11986669|11983858|10197531	.	.	.	.	.	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_HER2_PATHWAY	.	
L	12	71519173	rs11178636	G	A	221.4	PASS	TSPAN8	tetraspanin 8	splicing	NM_004616	NM_004616:exon9:c.661-6C>T	.	.	ENST00000552128.1,ENST00000247829.3,ENST00000546561.1,ENST00000393330.2	.	12q21.1	.	.	.	.	.	rs11178636	.	.	0.0780731	0.0575	0.0263578	0.0143	0.0089	0.0457	0.0505359728943	0.0624999990385	.	.	.	.	.	.	.	.	0.233	1.880	0.939630,10.31	2.19	AC=5;AN=10;BQB=0.943751;DP4=35,29,47,24;DP=183;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.725777;SF=3,7,15,19,20;SGB=-0.683931;VDB=0.155156	GT:DP:DV:PL	.	.	.	0/1:31:13:255,0,255	.	.	.	0/1:30:17:255,0,255	.	.	.	.	.	.	.	0/1:26:17:255,0,241	.	.	.	0/1:20:10:252,0,255	0/1:28:14:255,0,255	.	.	.	.	G	A	0	5	Tetraspanin 8	.	.	.	20360734|2395876	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VACUOLE;LYSOSOME	.	.	.	.	.	
M	12	72022747	rs79109432	A	T	228	PASS	ZFC3H1	zinc finger, C3H1-type containing	exonic	NM_144982	.	missense SNV	ZFC3H1:NM_144982:exon20:c.T3897A:p.D1299E	ENST00000378743.3	.	12q21.1	.	.	.	.	.	rs79109432	.	.	0.0149502	0.0139	0.00279553	.	0.0006	0.0078	0.00765698101072	0.0120192563702	1.0,T	0.001,B	0.0,B	0.867796,N	0.003337,N	0.895,L	1.57,T	2.3581	0.231	0.274	.	.	AC=2;AN=2;DP4=0,0,13,8;DP=29;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692352;VDB=0.349815	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:21:21:255,63,0	.	.	.	.	A	T	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	12	79747320	rs146053442	C	T	225	PASS	SYT1	synaptotagmin I	exonic	NM_001135805,NM_001135806,NM_001291901,NM_005639	.	synonymous SNV	SYT1:NM_001135806:exon8:c.C849T:p.Y283Y,SYT1:NM_001291901:exon8:c.C840T:p.Y280Y,SYT1:NM_005639:exon9:c.C849T:p.Y283Y,SYT1:NM_001135805:exon10:c.C849T:p.Y283Y	ENST00000393240.3,ENST00000457153.2,ENST00000261205.4,ENST00000552744.1	.	12q21.2	.	.	.	.	.	rs146053442	.	.	0.00498339	0.004	0.000798722	.	0.0006	0.0083	0.00535987906585	0.00480769432692	.	.	.	1,D	.	.	.	21.9836	-2.498	-0.679	1.515128,13.39	.	AC=3;AN=4;BQB=0.99264;DP4=15,4,49,8;DP=112;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.037012;SF=0,20;SGB=-0.691153;VDB=0.101615	GT:DP:DV:PL	0/1:37:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:39:39:255,117,0	.	.	.	.	C	T	1	1	Synaptotagmin-1	.	.	.	20448186|17478680|16990140|16794037|15044754|14634669|12110845|12110842|12055633|11691996|11242035|8747928|8058779|7791877|7749232|2333096|1856191|1840599|1589771	REGULATION_OF_BIOLOGICAL_QUALITY;PROTEIN_OLIGOMERIZATION;ESTABLISHMENT_OF_LOCALIZATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;SECRETORY_PATHWAY;SECRETION_BY_CELL;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;DETECTION_OF_STIMULUS;CELL_CELL_SIGNALING;DETECTION_OF_CHEMICAL_STIMULUS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_NEUROTRANSMITTER_LEVELS;CELLULAR_COMPONENT_ASSEMBLY;SYNAPTIC_TRANSMISSION;REGULATED_SECRETORY_PATHWAY;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SECRETION;GENERATION_OF_A_SIGNAL_INVOLVED_IN_CELL_CELL_SIGNALING;PROTEIN_COMPLEX_ASSEMBLY;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;EXOCYTOSIS;PROTEIN_HOMOOLIGOMERIZATION;CELLULAR_LOCALIZATION;REGULATION_OF_TRANSPORT;NEUROTRANSMITTER_SECRETION;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	LIPID_BINDING;PHOSPHOLIPID_BINDING;PHOSPHOINOSITIDE_BINDING;RECEPTOR_BINDING	.	.	.	REACTOME_BOTULINUM_NEUROTOXICITY;REACTOME_GLUTAMATE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_DOPAMINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_ACETYLCHOLINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_NOREPINEPHRINE_NEUROTRANSMITTER_RELEASE_CYCLE;REACTOME_GABA_SYNTHESIS_RELEASE_REUPTAKE_AND_DEGRADATION	
H	12	91449706	rs74932826	C	T	221	PASS	KERA	keratocan	exonic	NM_007035	.	missense SNV	KERA:NM_007035:exon2:c.G353A:p.S118N	ENST00000266719.3	.	12q21.33	.	.	.	.	.	rs74932826	.	.	0.00830565	0.0069	0.00139776	.	0.0004	0.0049	0.00830565	0.00830565	0.062,T	0.526,P	0.814,P	0.998855,D	0.000000,D	0.715,N	0.31,T	9.978	1.508	3.073	3.091716,22.5	4.97	AC=1;AN=2;BQB=0.830935;DP4=4,3,13,7;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.84472;SF=20;SGB=-0.692067;VDB=0.59346	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:20:255,0,159	.	.	.	.	C	T	0	1	Cornea plana congenita, recessive, 217300 (3)	.	.	.	15370545|11754099|11726611|10828599|10802664|10565548|9740679|9712886	.	.	.	.	.	.	REACTOME_KERATAN_SULFATE_BIOSYNTHESIS;REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM;REACTOME_KERATAN_SULFATE_DEGRADATION;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	
M	12	96288809	rs140348782	A	G	222	PASS	CCDC38	coiled-coil domain containing 38	exonic	NM_182496	.	missense SNV	CCDC38:NM_182496:exon8:c.T730C:p.S244P	ENST00000552085.1,ENST00000344280.3	.	12q23.1	.	.	.	.	.	rs140348782	.	.	0.0116279	0.0079	0.00179712	0.0003	0.0003	0.0039	0.00612556860643	0.0108173020433	0.204,T	0.005,B	0.006,B	1,N	0.041517,N	1.04,L	1.46,T	4.3398	-0.789	-0.399	.	.	AC=1;AN=2;BQB=0.885793;DP4=9,2,9,2;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.855758;SF=20;SGB=-0.676189;VDB=0.010438	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:255,0,251	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	12	100774609	rs141811441	A	G	222	PASS	SLC17A8	solute carrier family 17 (vesicular glutamate transporter), member 8	exonic	NM_001145288,NM_139319	.	missense SNV	SLC17A8:NM_001145288:exon2:c.A232G:p.I78V,SLC17A8:NM_139319:exon2:c.A232G:p.I78V	ENST00000392989.3,ENST00000323346.5	.	12q23.1	.	.	Score=885;Name=V$HLF_01	.	.	rs141811441	.	.	0.00498339	0.004	0.000798722	.	0.0003	0.0044	0.00689127312404	0.00498339	0.129,T	0.279,B	0.55,P	1,D	0.000000,D	2.89,M	0.32,T	15.1946	1.996	6.047	3.459299,23.0	5.27	AC=1;AN=2;BQB=0.830835;DP4=14,11,16,7;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.260298;SF=20;SGB=-0.692717;VDB=0.0480421	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	A	G	0	1	Deafness, autosomal dominant 25, 605583 (3)	.	.	.	19915548|18674745|18215623|12151341|9323205	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS	
L	12	101514349	rs2271642	A	G	194.33	PASS	ANO4	anoctamin 4	exonic	NM_001286615,NM_001286616,NM_178826	.	synonymous SNV	ANO4:NM_001286616:exon25:c.A2622G:p.T874T,ANO4:NM_178826:exon25:c.A2517G:p.T839T,ANO4:NM_001286615:exon26:c.A2622G:p.T874T	ENST00000550015.1,ENST00000299222.9,ENST00000392977.3,ENST00000392979.3	.	12q23.1	.	.	.	.	.	rs2271642	.	.	0.0232558	0.0198	0.00439297	0.0005	0.0024	0.0286	0.0222051905054	0.0252403793269	.	.	.	.	.	.	.	.	-0.708	-1.117	.	.	AC=3;AN=6;BQB=0.939535;DP4=37,11,17,14;DP=118;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.307218;SF=20,22,24;SGB=-0.670168;VDB=0.456924	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:10:255,0,255	.	0/1:12:6:173,0,197	.	0/1:31:15:255,0,255	A	G	0	3	Transmembrane protein 16D	.	.	.	12739008	.	.	.	.	.	.	.	
H	12	104709632	rs557073392	C	T	222	PASS	TXNRD1	thioredoxin reductase 1	exonic	NM_001093771,NM_001261445,NM_001261446,NM_003330,NM_182729,NM_182742,NM_182743	.	unknown	UNKNOWN	ENST00000388854.3,ENST00000378070.4,ENST00000429002.2,ENST00000542918.1,ENST00000540716.1,ENST00000526691.1,ENST00000525566.1,ENST00000397736.2,ENST00000524698.1,ENST00000526950.1,ENST00000354940.6,ENST00000526390.1,ENST00000427956.1,ENST00000529546.1,ENST00000503506.2	.	12q23.3	.	.	.	.	.	rs557073392	.	.	0	0.001	0.000199681	.	0.0001	0.0015	.	0.00434783	.	.	.	.	.	.	.	.	0.326	0.367	1.856704,15.32	.	AC=1;AN=2;BQB=0.22313;DP4=6,6,10,2;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.513417;SF=20;SGB=-0.680642;VDB=0.503225	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:255,0,255	.	.	.	.	C	T	0	1	Thioredoxin reductase-1	.	.	.	18042542|9671710|8921404|8650234|8577704|7589432	.	.	OXIDOREDUCTASE_ACTIVITY_ACTING_ON_SULFUR_GROUP_OF_DONORS;ELECTRON_CARRIER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;ANTIOXIDANT_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_SYNTHESIS_AND_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	
H	12	105440719	rs75238381	C	T	222	PASS	ALDH1L2	aldehyde dehydrogenase 1 family, member L2	exonic	NM_001034173	.	missense SNV	ALDH1L2:NM_001034173:exon14:c.G1715A:p.R572H	ENST00000258494.9,ENST00000548583.1	.	12q23.3	.	.	.	.	.	rs75238381	.	.	0.0415282	0.0437	0.0091853	0.0003	0.0031	0.0387	0.0415282	0.0348557396635	0.028,D	0.248,B	0.764,P	1,D	0.000000,D	0.68,N	-1.01,T	20.2631	2.788	7.714	6.272170,29.0	5.9	AC=1;AN=2;BQB=0.999723;DP4=4,7,7,10;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.895261;SF=20;SGB=-0.690438;VDB=0.0350931	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:17:255,0,255	.	.	.	.	C	T	0	1	Aldehyde dehydrogenase 1 family, member L2	.	.	.	20498374	.	.	.	.	.	.	.	
H	12	108169363	rs565803870	A	G	222	PASS	ASCL4	achaete-scute family bHLH transcription factor 4	exonic	NM_203436	.	missense SNV	ASCL4:NM_203436:exon1:c.A371G:p.H124R	ENST00000342331.4	CpG: 76	12q23.3	.	.	Score=799;Name=V$PBX1_02	.	.	rs565803870	.	.	0.00166113	0.001	0.000199681	.	2.242e-05	0.0003	0.00166113	0.00166113	0.295,T	0.168,B	0.379,B	0.991684,D	0.000412,D	1.49,L	-4.67,D	13.9979	1.767	4.877	1.655543,14.16	4.44	AC=1;AN=2;BQB=0.8215;DP4=10,7,10,8;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.795413;SF=20;SGB=-0.691153;VDB=0.919162	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:18:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
M	12	108923964	rs745492668	C	T	197	PASS	SART3	squamous cell carcinoma antigen recognized by T cells 3	exonic	NM_014706	.	missense SNV	SART3:NM_014706:exon15:c.G1870A:p.G624R	ENST00000228284.3,ENST00000431469.2	.	12q23.3	.	.	.	.	.	rs745492668	.	.	.	.	.	.	3.295e-05	0	.	.	0.333,T	0.001,B	0.001,B	1,N	0.311282,N	-1.1,N	0.52,T	6.061	-0.100	1.412	.	.	AC=1;AN=2;BQB=0.871116;DP4=8,3,11,0;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.947528;SF=20;SGB=-0.676189;VDB=0.297961	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:230,0,255	.	.	.	.	C	T	0	1	Squamous cell carcinoma antigen recognized by T cells 3	.	.	.	17392836|15840095|15031286|12578909|12032085|10761712|10463607|8590280	.	.	.	.	.	.	.	PM2
L	12	109182010	rs182605349	G	A	222	PASS	SSH1	slingshot protein phosphatase 1	exonic	NM_018984	.	synonymous SNV	SSH1:NM_018984:exon15:c.C2904T:p.T968T	ENST00000360239.3,ENST00000326495.5	.	12q24.11	.	.	Score=766;Name=V$PAX5_02	.	.	rs182605349	.	.	0.00664452	0.005	0.00519169	.	0.0026	0.0123	0.00689127038285	0.00664452	.	.	.	.	.	.	.	.	-1.045	-0.854	1.101502,11.22	.	AC=1;AN=2;BQB=0.9401;DP4=20,25,18,12;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.832442;SF=20;SGB=-0.693097;VDB=0.33665	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:30:255,0,255	.	.	.	.	G	A	0	1	Slingshot, Drosophila, homolog of, 1	.	.	.	11832213	BIOPOLYMER_METABOLIC_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_MORPHOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	MEMBRANE;CYTOPLASM;PLASMA_MEMBRANE	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CXCR4_PATHWAY;PID_FGF_PATHWAY	.	.	
L	12	110206550	rs372654452	C	T	222	PASS	FAM222A	family with sequence similarity 222, member A	exonic	NM_032829	.	synonymous SNV	FAM222A:NM_032829:exon3:c.C816T:p.A272A	ENST00000541723.1,ENST00000358906.3,ENST00000541460.1,ENST00000538780.1	.	12q24.11	.	.	.	.	.	rs372654452	.	.	.	.	.	0.0002	0.0003	0.0032	0.00284091	.	.	.	.	.	.	.	.	.	0.342	-0.491	1.944237,15.86	2.7	AC=1;AN=2;BQB=0.981338;DP4=8,5,7,7;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.831963;SF=20;SGB=-0.686358;VDB=0.130646	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	12	113532684	rs183848543	C	T	222	PASS	DTX1	deltex 1, E3 ubiquitin ligase	exonic	NM_004416	.	missense SNV	DTX1:NM_004416:exon6:c.C1318T:p.R440C	ENST00000547974.1,ENST00000257600.3	.	12q24.13	.	.	.	.	.	rs183848543	.	.	0.00332226	0.002	0.000399361	7.7e-05	0.0002	0.0028	0.00229708830015	0.00332226	0.154,T	0.033,B	0.01,B	0.96993,D	0.005311,N	0.995,L	-0.47,T	8.41	1.779	5.412	7.271101,34	2.97	AC=1;AN=2;BQB=0.380244;DP4=12,11,24,8;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.961142;SF=20;SGB=-0.69312;VDB=0.158491	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:32:255,0,255	.	.	.	.	C	T	0	1	Deltex, Drosophila, homolog of, 1	.	.	.	19592273|12670957|12617994|11869684|11153911|10531053|9590294|8401577|7716513	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;GENERATION_OF_NEURONS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELL_DIFFERENTIATION;NEGATIVE_REGULATION_OF_CELL_DIFFERENTIATION;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEUROGENESIS;NOTCH_SIGNALING_PATHWAY;NEURON_DIFFERENTIATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS	CYTOPLASM	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_PS1PATHWAY	.	REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH	
L	12	117657991	rs2293044	G	T	203.5	PASS	NOS1	nitric oxide synthase 1 (neuronal)	exonic	NM_000620,NM_001204213,NM_001204214,NM_001204218	.	synonymous SNV	NOS1:NM_001204213:exon26:c.C3051A:p.V1017V,NOS1:NM_001204214:exon26:c.C3051A:p.V1017V,NOS1:NM_000620:exon27:c.C4059A:p.V1353V,NOS1:NM_001204218:exon28:c.C4161A:p.V1387V	ENST00000317775.6,ENST00000338101.4,ENST00000344089.3	.	12q24.22	.	.	.	.	.	rs2293044	.	.	0.0348837	0.0585	0.0389377	0.0263	0.0177	0.0483	0.0260336761103	0.0312499764423	.	.	.	.	.	.	.	.	-0.127	-0.028	.	.	AC=2;AN=4;BQB=0.957706;DP4=29,19,17,8;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977402;SF=13,20;SGB=-0.689466;VDB=0.13063	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:16:255,0,255	.	.	.	.	.	.	0/1:32:9:219,0,255	.	.	.	.	G	T	0	2	Nitric oxide synthase 1, neuronal	.	.	.	25479138|21403107|19851341|18953332|16488973|16389274|16276418|15917272|15486091|14757827|12490535|12403769|12354397|11907582|11087833|10949304|10535996|9844020|9111048|8943269|8806605|7688726|7685260|7545544|7536496|7532307|7531307|7477374|1712077|1385308|1379716|1378650	SYSTEM_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	OXIDOREDUCTASE_ACTIVITY_GO_0016705;OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARGININE_AND_PROLINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_ALZHEIMERS_DISEASE;KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	BIOCARTA_NOS1_PATHWAY	REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_NITRIC_OXIDE_STIMULATES_GUANYLATE_CYCLASE;REACTOME_PLATELET_HOMEOSTASIS;REACTOME_HEMOSTASIS	
H	12	118298090	rs768970029	G	A	222	PASS	KSR2	kinase suppressor of ras 2	splicing	NM_173598	NM_173598:exon2:c.234+6C>T	.	.	ENST00000339824.5,ENST00000425217.1	.	12q24.23	.	.	.	.	.	rs768970029	.	.	.	.	.	.	0.0001	0.0017	.	.	.	.	.	.	.	.	.	.	-0.941	-0.181	.	.	AC=1;AN=2;BQB=0.819567;DP4=11,2,13,1;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.793923;SF=20;SGB=-0.686358;VDB=0.191902	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	G	A	0	1	Kinase suppressor of RAS 2	.	.	.	21441910|16039990|12975377	.	.	.	.	.	.	.	
L	12	121002977	rs147370516	C	T	218	PASS	RNF10	ring finger protein 10	exonic	NM_014868	.	synonymous SNV	RNF10:NM_014868:exon11:c.C1768T:p.L590L	ENST00000325954.4,ENST00000413266.2	.	12q24.31	.	.	Score=815;Name=V$RFX1_02	.	.	rs147370516	.	.	0.00830565	0.0069	0.00139776	.	0.0002	0.0032	0.00459417924962	0.00721154110577	.	.	.	.	.	.	.	.	2.826	1.605	1.244695,11.98	5.04	AC=1;AN=2;BQB=0.991701;DP4=2,4,4,4;DP=19;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.301194;SF=20;SGB=-0.651104;VDB=0.0462387	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:8:251,0,187	.	.	.	.	C	T	0	1	RING finger protein 10	.	.	.	18941509|16335786|10697961|9039502	.	.	.	.	.	.	.	
M	12	122618213	rs577929671	C	T	222	PASS	MLXIP	MLX interacting protein	exonic	NM_014938	.	missense SNV	MLXIP:NM_014938:exon9:c.C1411T:p.P471S	ENST00000538698.1,ENST00000319080.7,ENST00000377037.2	.	12q24.31	.	.	.	.	.	rs577929671	.	.	0.00498339	0.003	0.000599042	.	6.976e-05	0.0010	0.0045941793415	0.00498339	0.197,T	0.005,B	0.009,B	1,N	0.141636,N	.	-2.37,D	4.5573	0.559	-0.076	.	.	AC=1;AN=2;BQB=0.98718;DP4=28,20,20,11;DP=98;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999546;SF=20;SGB=-0.69311;VDB=0.548724	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:31:255,0,255	.	.	.	.	C	T	0	1	MLX-interacting protein	.	.	.	12446771|11073985|10048485	.	.	.	.	.	.	.	
H	12	122794305	rs145540940	T	C	113	PASS	CLIP1	CAP-GLY domain containing linker protein 1	splicing	NM_001247997,NM_002956,NM_198240	NM_001247997:exon20:c.3594+4A>G;NM_002956:exon19:c.3561+4A>G;NM_198240:exon18:c.3456+4A>G	.	.	ENST00000361654.4,ENST00000537178.1,ENST00000302528.7,ENST00000545889.1,ENST00000540338.1,ENST00000358808.2	.	12q24.31	.	.	.	.	.	rs145540940	.	.	0.00498339	0.006	0.00119808	.	0.0001	0.0017	0.00498339	0.00498339	.	.	.	.	.	.	.	.	2.133	1.293	1.592836,13.81	4.44	AC=1;AN=2;BQB=0.961295;DP4=11,1,6,0;DP=25;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.372752;SF=20;SGB=-0.616816;VDB=0.856113	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:6:147,0,255	.	.	.	.	T	C	0	1	CAP-GLY domain containing linker protein 1	.	.	.	24569606|12110184|10052454|9784600|9707610|8222754|7983157|1600942|1450414|1356075	M_PHASE;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MITOSIS;CELL_CYCLE_GO_0007049;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;INTERMEDIATE_FILAMENT_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CHROMOSOMEPERICENTRIC_REGION;INTERMEDIATE_FILAMENT;ENDOSOME;KINETOCHORE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;CHROMOSOMAL_PART;PROTEIN_COMPLEX;CHROMOSOME	PROTEIN_HOMODIMERIZATION_ACTIVITY;MICROTUBULE_BINDING;IDENTICAL_PROTEIN_BINDING;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	PID_MTOR_4PATHWAY;PID_LIS1PATHWAY	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	
H	12	123028739	rs61751320	A	G	169	PASS	KNTC1	kinetochore associated 1	exonic	NM_014708	.	missense SNV	KNTC1:NM_014708:exon8:c.A592G:p.T198A	ENST00000333479.7,ENST00000450485.2	.	12q24.31	.	.	Score=740;Name=V$MEF2_04	.	.	rs61751320	.	.	0.0232558	0.0268	0.00579073	.	0.0017	0.0209	0.01914241317	0.0240384634615	0.0,D	0.994,D	0.999,D	1,D	0.000000,D	2.56,M	2.18,T	15.4759	2.055	3.875	3.673270,23.3	5.43	AC=2;AN=4;BQB=0.730948;DP4=6,4,12,3;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.974597;MQSB=0.924584;RPB=0.649731;SF=9,20;SGB=-0.590765;VDB=0.328499	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:9:5:149,0,152	.	.	.	.	.	.	.	.	.	.	0/1:16:10:255,0,213	.	.	.	.	A	G	0	2	Kinetochore-associated protein 1	.	.	.	11590237|11146660|8724849	MITOTIC_CELL_CYCLE_CHECKPOINT;M_PHASE;REGULATION_OF_MITOSIS;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELL_CYCLE_CHECKPOINT_GO_0000075;MITOSIS;CELL_CYCLE_GO_0007049;REGULATION_OF_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;SPINDLE_MICROTUBULE;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	PP3
H	12	123087668	rs374789933	C	T	222	PASS	KNTC1	kinetochore associated 1	exonic	NM_014708	.	missense SNV	KNTC1:NM_014708:exon48:c.C4979T:p.S1660L	ENST00000333479.7,ENST00000537348.1,ENST00000436959.3,ENST00000450485.2	.	12q24.31	.	.	.	.	.	rs374789933	.	.	0.00166113	0.001	0.000199681	.	8.459e-05	0.0009	0.00166113	0.00240384754808	0.116,T	0.277,B	0.574,P	1,N	0.071956,N	2.095,M	1.59,T	9.6651	2.723	1.195	4.051157,23.7	5.74	AC=1;AN=2;BQB=0.957281;DP4=6,5,6,5;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.220025;SF=20;SGB=-0.676189;VDB=0.537887	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:255,0,255	.	.	.	.	C	T	0	1	Kinetochore-associated protein 1	.	.	.	11590237|11146660|8724849	MITOTIC_CELL_CYCLE_CHECKPOINT;M_PHASE;REGULATION_OF_MITOSIS;CELL_CYCLE_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELL_CYCLE_CHECKPOINT_GO_0000075;MITOSIS;CELL_CYCLE_GO_0007049;REGULATION_OF_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;SPINDLE_MICROTUBULE;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	
H	12	123273363	rs369692800	T	C	222	PASS	CCDC62	coiled-coil domain containing 62	exonic	NM_201435	.	missense SNV	CCDC62:NM_201435:exon5:c.T557C:p.M186T	ENST00000537566.1,ENST00000392441.4,ENST00000392440.2,ENST00000253079.6	.	12q24.31	.	.	.	.	.	rs369692800	.	.	0.00332226	0.002	0.000399361	.	5.788e-05	0.0007	0.00332226	0.0036057709375	0.117,T	0.026,B	0.039,B	1,D	0.359767,N	0.345,N	1.61,T	12.3693	2.179	2.639	.	5.7	AC=1;AN=2;BQB=0.818731;DP4=13,3,12,3;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.637628;SF=20;SGB=-0.688148;VDB=0.139633	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:15:255,0,255	.	.	.	.	T	C	0	1	Coiled-coil domain-containing protein 62	.	.	.	19165854|19126643|18563714	.	.	.	.	.	.	.	
L	12	123285785	rs61735889	G	A	222	PASS	CCDC62	coiled-coil domain containing 62	exonic	NM_201435	.	synonymous SNV	CCDC62:NM_201435:exon9:c.G1092A:p.Q364Q	ENST00000537566.1,ENST00000392441.4,ENST00000392440.2,ENST00000253079.6	.	12q24.31	.	.	.	.	.	rs61735889	.	.	0	.	0.0115815	0.0152	0.0039	0.0010	.	0.00434783	.	.	.	.	.	.	.	.	1.276	1.229	.	3.3	AC=1;AN=2;BQB=0.988166;DP4=13,1,6,6;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.573564;SF=20;SGB=-0.680642;VDB=0.0325454	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	G	A	0	1	Coiled-coil domain-containing protein 62	.	.	.	19165854|19126643|18563714	.	.	.	.	.	.	.	
H	12	123341589	rs371812138	C	T	222	PASS	HIP1R	huntingtin interacting protein 1 related	exonic	NM_001303097,NM_001303099,NM_003959	.	missense SNV	HIP1R:NM_001303097:exon18:c.C1642T:p.R548W,HIP1R:NM_001303099:exon18:c.C1606T:p.R536W,HIP1R:NM_003959:exon18:c.C1642T:p.R548W	ENST00000253083.4	.	12q24.31	.	.	Score=791;Name=V$HEN1_01	.	.	rs371812138	.	.	0.00332226	0.002	0.000399361	.	6.122e-05	0.0020	0.00332226	0.0036057709375	0.013,D	0.586,P	0.991,D	1,N	0.055728,N	2.3,M	2.45,T	14.3795	0.252	-0.377	5.709988,26.8	.	AC=1;AN=2;BQB=0.985816;DP4=19,2,15,3;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.716247;SF=20;SGB=-0.691153;VDB=0.519982	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:18:255,0,255	.	.	.	.	C	T	0	1	Huntingtin-interacting protein 1-related protein	.	.	.	17452370|11161217|11063258|10613908|9852681|9734811	.	.	.	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS	
L	12	123344987	rs371288388	G	A	222	PASS	HIP1R	huntingtin interacting protein 1 related	exonic	NM_003959	.	synonymous SNV	HIP1R:NM_003959:exon27:c.G2577A:p.Q859Q	ENST00000253083.4	.	12q24.31	.	.	.	.	.	rs371288388	.	.	0.00332226	0.002	0.000399361	.	6.661e-05	0.0007	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	1.235	4.826	1.084654,11.13	4.43	AC=1;AN=2;BQB=0.837474;DP4=30,15,23,5;DP=102;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998971;SF=20;SGB=-0.693054;VDB=0.0835561	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:28:255,0,255	.	.	.	.	G	A	0	1	Huntingtin-interacting protein 1-related protein	.	.	.	17452370|11161217|11063258|10613908|9852681|9734811	.	.	.	.	.	.	REACTOME_MEMBRANE_TRAFFICKING;REACTOME_TRANS_GOLGI_NETWORK_VESICLE_BUDDING;REACTOME_GOLGI_ASSOCIATED_VESICLE_BIOGENESIS	
M	12	123950400	rs192445871	G	A	197.33	PASS	SNRNP35	small nuclear ribonucleoprotein 35kDa (U11/U12)	exonic	NM_022717,NM_180699	.	missense SNV	SNRNP35:NM_022717:exon2:c.G313A:p.V105M,SNRNP35:NM_180699:exon2:c.G328A:p.V110M	ENST00000350887.5,ENST00000412157.2,ENST00000527158.2,ENST00000526639.2	.	12q24.31	.	.	.	.	.	rs192445871	.	.	0.0116279	0.0099	0.00219649	.	0.0004	0.0048	0.00612556860643	0.0116279	0.228,T	0.073,B	0.32,B	0.999996,N	0.020299,N	0.89,L	-0.92,T	2.2989	0.061	1.113	.	.	AC=3;AN=6;BQB=0.988166;DP4=36,19,28,17;DP=128;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997028;SF=14,20,22;SGB=-0.686358;VDB=0.966499	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:14:255,0,233	.	.	.	.	.	0/1:48:24:255,0,255	.	0/1:26:7:182,0,255	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	12	124298332	rs75259413	A	G	222	PASS	DNAH10	dynein, axonemal, heavy chain 10	exonic	NM_207437	.	missense SNV	DNAH10:NM_207437:exon20:c.A3299G:p.N1100S	ENST00000409039.3	.	12q24.31	.	.	.	.	.	rs75259413	.	.	0.00332226	0.002	0.0135783	0.0177	0.0058	0.0031	0.0030627880245	0.00600962201923	0.79,T	0.002,B	0.0,B	1,N	.	-0.405,N	2.05,T	11.3676	-1.594	-0.307	.	.	AC=2;AN=4;BQB=0.995862;DP4=23,7,17,8;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.95843;SF=6,20;SGB=-0.686358;VDB=0.577602	GT:DP:DV:PL	.	.	.	.	.	.	0/1:33:14:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:255,0,255	.	.	.	.	A	G	0	2	Dynein, axonemal, heavy chain 10	.	.	.	15937072|11175280	.	.	.	.	.	.	.	
H	12	124402313	rs749475752	G	A	222	PASS	DNAH10	dynein, axonemal, heavy chain 10	exonic	NM_207437	.	missense SNV	DNAH10:NM_207437:exon63:c.G10831A:p.V3611M	ENST00000409039.3	.	12q24.31	.	.	.	.	.	rs749475752	.	.	.	.	.	.	0.0002	0.0042	0.00284091	0.00434783	0.06,T	0.957,D	0.998,D	0.970859,D	0.003694,N	2.39,M	0.57,T	14.149	2.474	3.679	3.096161,22.5	5.24	AC=3;AN=6;BQB=0.500821;DP4=72,24,68,29;DP=282;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.629857;SF=17,20,22;SGB=-0.69311;VDB=0.0296716	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:31:255,0,255	.	.	0/1:96:47:255,0,255	.	0/1:37:19:255,0,255	.	.	G	A	0	3	Dynein, axonemal, heavy chain 10	.	.	.	15937072|11175280	.	.	.	.	.	.	.	
H	12	124421760	rs550237057	G	A	222	PASS	CCDC92	coiled-coil domain containing 92	exonic	NM_001304957,NM_001304958,NM_001304959,NM_001304960,NM_001304961,NM_025140	.	missense SNV	CCDC92:NM_001304961:exon4:c.C790T:p.R264C,CCDC92:NM_001304957:exon5:c.C841T:p.R281C,CCDC92:NM_001304959:exon5:c.C841T:p.R281C,CCDC92:NM_025140:exon5:c.C841T:p.R281C,CCDC92:NM_001304958:exon6:c.C841T:p.R281C,CCDC92:NM_001304960:exon7:c.C841T:p.R281C	ENST00000238156.3,ENST00000545135.1,ENST00000544798.1,ENST00000545891.1	CpG: 45	12q24.31	.	.	.	.	.	rs550237057	.	.	.	.	.	.	8.624e-06	0	.	.	0.001,D	0.855,P	0.999,D	0.999997,D	0.000273,D	1.795,L	1.47,T	12.4965	2.267	3.151	5.981149,27.8	3.99	AC=1;AN=2;BQB=0.758664;DP4=36,22,28,16;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.507011;SF=20;SGB=-0.693146;VDB=0.148732	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:44:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	12	132393672	rs200288395	G	C	222	PASS	ULK1	unc-51 like autophagy activating kinase 1	splicing	NM_003565	NM_003565:exon8:c.565-9G>C	.	.	ENST00000321867.4	CpG: 163	12q24.33	.	.	.	.	.	rs200288395	.	.	0.00498339	0.006	0.00119808	.	0.0004	0.0056	0.00306278528331	0.00498339	.	.	.	.	.	.	.	.	-2.608	-2.416	.	.	AC=1;AN=2;BQB=0.57225;DP4=27,19,26,21;DP=127;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.419642;SF=20;SGB=-0.693147;VDB=0.710675	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:47:255,0,255	.	.	.	.	G	C	0	1	UNC51-like kinase 1	.	.	.	22539723|21205641|18936157|18539900|15014045|9693035	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_REGULATION_OF_AUTOPHAGY;KEGG_MTOR_SIGNALING_PATHWAY	PID_MTOR_4PATHWAY	.	.	
L	12	132466098	rs139101269	G	A	216.5	PASS	EP400	E1A binding protein p400	exonic	NM_015409	.	synonymous SNV	EP400:NM_015409:exon4:c.G1500A:p.A500A	ENST00000389561.2,ENST00000330386.6,ENST00000332482.4,ENST00000389562.2,ENST00000333577.4	.	12q24.33	.	.	Score=851;Name=V$ROAZ_01	.	.	rs139101269	.	.	0.00332226	0.002	0.000798722	0.0005	0.0007	0.0044	0.0030627880245	0.00332226	.	.	.	.	.	.	.	.	2.723	7.391	1.184945,11.67	5.77	AC=2;AN=4;BQB=0.968386;DP4=9,8,12,9;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.923738;SF=12,20;SGB=-0.683931;VDB=0.599178	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:13:255,0,234	.	.	.	.	.	.	.	0/1:17:8:244,0,255	.	.	.	.	G	A	0	2	p400 SWI2/SNF2-related protein	.	.	.	24463511|20133580|18614019|14966270|11509179|9225980	.	.	.	.	.	.	.	
H	12	133306559	rs201957832	G	A	222	PASS	ANKLE2	ankyrin repeat and LEM domain containing 2	exonic	NM_015114	.	missense SNV	ANKLE2:NM_015114:exon11:c.C2189T:p.S730L	ENST00000357997.5,ENST00000542657.1,ENST00000539605.1,ENST00000542374.1,ENST00000542282.1	.	12q24.33	.	.	Score=860;Name=V$TAL1BETAE47_01	.	.	rs201957832	.	.	0.00830565	0.0079	0.00159744	8.2e-05	0.0004	0.0050	0.00459417924962	0.00721154110577	0.003,D	0.44,B	0.983,D	1,D	0.000000,D	2.515,M	-0.0,T	17.2594	2.876	2.592	4.133714,23.8	5.74	AC=1;AN=2;BQB=0.867188;DP4=13,7,10,9;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.675922;SF=20;SGB=-0.69168;VDB=0.13968	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	G	A	0	1	?Microcephaly 16, primary, autosomal recessive, 616681 (3)	.	.	.	25259927|22770216|9734811	.	.	.	.	.	.	.	PP3
M	13	20425911	rs9579717	C	T	176.8	PASS	ZMYM5	zinc finger, MYM-type 5	exonic	NM_001039649,NM_001039650,NM_001142684	.	missense SNV	ZMYM5:NM_001039649:exon3:c.G410A:p.C137Y,ZMYM5:NM_001039650:exon3:c.G410A:p.C137Y,ZMYM5:NM_001142684:exon3:c.G410A:p.C137Y	ENST00000382907.4,ENST00000382905.4,ENST00000337963.4	.	13q12.11	.	.	.	.	.	rs9579717	.	.	0.00996678	0.0069	0.00139776	.	0.0004	0.0046	0.00765697001531	0.00996678	0.06,T	0.131,B	0.28,B	0.99989,P	.	0,N	1.6,T	5.8782	-0.623	0.643	.	.	AC=3,3;AN=10;BQB=0.741321;DP4=52,18,50,9;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.849535;SF=7,16,20,22,23;SGB=-0.683931;VDB=0.69078	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:33:13:241,0,255,.,.,.	.	.	.	.	.	.	.	.	0/2:34:14:255,.,.,0,.,255	.	.	.	1/2:18:18:255,239,209,255,0,241	.	0/2:19:8:171,.,.,0,.,255	0/1:25:6:155,0,255,.,.,.	.	C	T,A	0	5	Zinc finger, MYM-type 5	.	.	.	17126306|10894931	.	.	.	.	.	.	.	
L	13	21563311	rs77919685	G	A	222	PASS	LATS2	large tumor suppressor kinase 2	exonic	NM_014572	.	missense SNV	LATS2:NM_014572:exon4:c.C608T:p.A203V	ENST00000472754.1,ENST00000382592.4,ENST00000542899.1	CpG: 121	13q12.11	.	.	.	.	.	rs77919685	.	.	0.0265781	0.0248	0.0205671	0.0129	0.0207	0.0390	0.0260337128637	0.0264423391827	0.251,T	0.001,B	0.002,B	1,N	0.207082,N	0,N	1.7,T	5.4494	0.425	1.485	.	3.04	AC=1;AN=2;BQB=0.670243;DP4=22,7,21,9;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.110266;SF=20;SGB=-0.693097;VDB=0.608795	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:30:255,0,255	.	.	.	.	G	A	0	1	Large tumor suppressor, Drosophila, homolog of, 2	.	.	.	18978791|17015431|15343267|10673337	REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CELL_CYCLE;INTERPHASE;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;RESPONSE_TO_CHEMICAL_STIMULUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;PROTEIN_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;RESPONSE_TO_HORMONE_STIMULUS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_CELL_CYCLE;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	NUCLEOTIDE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PURINE_NUCLEOTIDE_BINDING;PROTEIN_KINASE_ACTIVITY;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	PID_AR_PATHWAY	.	REACTOME_SIGNALING_BY_HIPPO	
M	13	24243081	rs115260428	T	C	221.75	PASS	TNFRSF19	tumor necrosis factor receptor superfamily, member 19	exonic	NM_001204458,NM_001204459,NM_018647,NM_148957	.	missense SNV	TNFRSF19:NM_001204459:exon7:c.T694C:p.S232P,TNFRSF19:NM_001204458:exon9:c.T1090C:p.S364P,TNFRSF19:NM_018647:exon9:c.T1090C:p.S364P,TNFRSF19:NM_148957:exon9:c.T1090C:p.S364P	ENST00000382263.3,ENST00000403372.2,ENST00000248484.4,ENST00000382258.4	.	13q12.12	.	.	.	.	.	rs115260428	.	.	0.0232558	0.0188	0.00379393	0.0002	0.0014	0.0184	0.0160796250536	0.0192307585337	0.065,T	0.001,B	0.001,B	1,N	0.749268,N	0.46,N	-1.22,T	0.9423	-0.007	-0.088	.	.	AC=4;AN=8;BQB=0.486752;DP4=30,27,28,29;DP=151;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.596423;SF=7,12,20,23;SGB=-0.688148;VDB=0.387204	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:35:15:255,0,255	.	.	.	.	0/1:15:11:255,0,135	.	.	.	.	.	.	.	0/1:34:17:255,0,255	.	.	0/1:30:14:255,0,255	.	T	C	0	4	Toxicity and JNK inducer	.	.	.	10809768|10764796	.	.	.	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION	.	.	.	
H	13	25433204	rs148232728	C	A	164	PASS	RNF17	ring finger protein 17	exonic	NM_001184993,NM_031277	.	missense SNV	RNF17:NM_001184993:exon26:c.C3664A:p.P1222T,RNF17:NM_031277:exon26:c.C3676A:p.P1226T	ENST00000255324.5,ENST00000381921.1,ENST00000339524.3	.	13q12.12	.	.	Score=766;Name=V$STAT5A_02	.	.	rs148232728	.	.	0.0481728	0.0347	0.0081869	.	0.0023	0.0306	0.0352220569678	0.0408654069712	0.019,D	0.999,D	1.0,D	0.972154,D	0.000001,D	2.135,M	2.96,T	13.0601	1.542	4.014	4.637444,24.5	4.3	AC=2;AN=4;BQB=0.915545;DP4=11,2,15,1;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.733299;SF=16,20;SGB=-0.651104;VDB=0.414968	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:8:200,0,216	.	.	.	0/1:13:8:194,0,159	.	.	.	.	C	A	0	2	RING finger protein-17	.	.	.	11279525	.	.	.	.	.	.	.	PP3
L	13	25670813	rs3002212	C	T	59.48	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C477T:p.N159N	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs3002212	.	.	0	0.001	0.043131	0.0400	0.0121	0	.	0.173913	.	.	.	.	.	.	.	.	-1.671	0.222	.	.	AC=17;AN=34;BQB=0.936983;DP4=263,190,118,8;DP=675;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.161327;MQSB=0.851683;RPB=0.633762;SF=1,2,3,7,9,10,11,12,13,14,15,17,18,20,21,22,24;SGB=-0.616816;VDB=0.377852	GT:DP:DV:PL	.	0/1:36:6:61,0,255	0/1:28:7:114,0,255	0/1:26:6:90,0,255	.	.	.	0/1:51:15:172,0,255	.	0/1:36:6:74,0,255	0/1:30:5:63,0,255	0/1:36:8:115,0,255	0/1:25:5:69,0,255	0/1:13:3:58,0,255	0/1:27:8:136,0,255	0/1:36:8:124,0,255	.	0/1:37:11:138,0,255	0/1:47:8:67,0,255	.	0/1:32:6:72,0,255	0/1:57:11:77,0,255	0/1:25:5:63,0,255	.	0/1:37:8:112,0,255	C	T	0	17	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670877	rs112107735	G	A	132.16	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.G541A:p.A181T	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs112107735	.	.	0.00166113	0.002	0.0071885	.	0.0013	0.0007	0.0696784565544	0.0649039065625	0.042,D	0.253,B	0.627,P	0.995232,D	0.000272,U	1.94,M	-2.01,D	7.4633	0.748	4.764	1.800530,14.99	.	AC=22;AN=44;BQB=0.870784;DP4=547,175,217,29;DP=1233;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.365896;MQSB=0.968088;RPB=0.0529294;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.590765;VDB=0.328499	GT:DP:DV:PL	.	0/1:36:5:64,0,255	0/1:36:9:152,0,255	0/1:38:9:172,0,255	.	0/1:46:8:98,0,255	0/1:41:10:195,0,255	0/1:60:17:255,0,255	0/1:57:12:149,0,255	0/1:37:7:127,0,255	0/1:41:11:134,0,255	0/1:43:12:176,0,255	0/1:35:9:140,0,255	0/1:25:4:58,0,255	0/1:38:10:240,0,255	0/1:37:13:212,0,255	0/1:44:6:82,0,255	0/1:51:19:255,0,255	0/1:51:17:181,0,255	.	0/1:50:13:204,0,255	0/1:72:21:223,0,255	0/1:40:9:102,0,255	0/1:43:12:197,0,255	0/1:47:13:250,0,255	G	A	0	22	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670907	rs76264750	C	A	159.37	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.C571A:p.P191T	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76264750	.	.	.	.	.	.	0.0004	0.0001	0.125	0.23913	1.0,T	0.0,B	0.0,B	0.99009,N	0.005664,N	-1.075,N	-1.98,D	6.4602	-0.661	4.524	.	.	AC=22;AN=44;BQB=0.95414;DP4=631,177,237,54;DP=1488;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.778801;MQSB=0.886592;RPB=0.840624;SF=1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.575151	GT:DP:DV:PL	.	0/1:35:5:104,0,255	0/1:49:10:174,0,255	0/1:48:10:169,0,255	.	0/1:57:12:176,0,255	0/1:43:11:207,0,255	0/1:63:17:255,0,255	0/1:54:14:241,0,255	0/1:40:8:131,0,255	0/1:52:12:153,0,255	0/1:51:16:231,0,255	0/1:38:11:132,0,255	.	0/1:49:13:255,0,255	0/1:43:15:241,0,255	0/1:45:6:63,0,255	0/1:53:20:255,0,255	0/1:57:20:251,0,255	0/1:44:7:94,0,255	0/1:53:16:254,0,255	0/1:76:26:255,0,255	0/1:41:10:149,0,255	0/1:51:15:219,0,255	0/1:57:17:255,0,255	C	A	0	22	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670919	rs76861216	A	G	157.94	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.A583G:p.I195V	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76861216	.	.	0.00166113	0.002	0.00399361	.	0.0008	0	0.0681470139816	0.0673075724279	1.0,T	0.023,B	0.005,B	0.988154,D	0.000219,U	-0.55,N	3.09,T	2.297	-0.662	3.567	.	.	AC=24;AN=48;BQB=0.998463;DP4=726,198,270,58;DP=1712;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.771052;MQSB=0.996672;RPB=0.991659;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.332598	GT:DP:DV:PL	0/1:44:5:71,0,255	0/1:36:6:143,0,255	0/1:52:11:186,0,255	0/1:49:10:176,0,255	.	0/1:60:12:180,0,255	0/1:51:15:230,0,255	0/1:67:18:255,0,255	0/1:57:13:215,0,255	0/1:46:11:156,0,255	0/1:56:15:219,0,255	0/1:57:18:252,0,255	0/1:40:11:160,0,255	0/1:36:6:97,0,255	0/1:54:16:255,0,255	0/1:49:17:243,0,255	0/1:47:7:63,0,255	0/1:58:21:255,0,255	0/1:59:20:255,0,255	0/1:44:8:114,0,255	0/1:55:17:255,0,255	0/1:82:29:255,0,255	0/1:39:9:139,0,255	0/1:53:15:194,0,255	0/1:61:18:255,0,255	A	G	0	24	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670953	rs74040928	G	A	185.7	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.G617A:p.R206H	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs74040928	.	.	0	0.001	0.0091853	.	0.0030	0.0006	0.130682	0.23913	0.089,T	0.043,B	0.114,B	0.524478,D	0.026238,N	0.27,N	-1.84,D	3.6078	-0.208	2.715	2.527083,19.64	.	AC=23;AN=46;BQB=0.692107;DP4=682,243,257,105;DP=1747;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.194472;MQSB=0.96193;RPB=0.968086;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.972889	GT:DP:DV:PL	0/1:52:7:99,0,255	0/1:42:8:128,0,255	0/1:57:15:254,0,255	0/1:55:13:203,0,255	.	0/1:60:14:246,0,255	0/1:57:16:253,0,255	0/1:69:18:236,0,255	0/1:64:15:224,0,255	0/1:46:12:218,0,255	0/1:54:14:207,0,255	0/1:61:20:255,0,255	0/1:42:12:182,0,255	0/1:43:7:141,0,255	0/1:51:15:255,0,255	0/1:52:19:255,0,255	.	0/1:59:23:255,0,255	0/1:62:21:255,0,255	0/1:46:12:162,0,255	0/1:61:17:255,0,255	0/1:92:33:255,0,255	0/1:40:12:220,0,255	0/1:61:20:249,0,255	0/1:61:19:255,0,255	G	A	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670955	rs79397892	C	T	182.17	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.C619T:p.L207F	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs79397892	.	.	0	0.001	0.00539137	.	0.0019	0.0005	0.129261	0.23913	0.192,T	0.978,D	0.999,D	0.99901,D	0.000779,U	2.615,M	0.9,T	6.6283	0.170	3.713	4.224011,23.9	.	AC=23;AN=46;BQB=0.729745;DP4=678,248,250,107;DP=1753;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.195564;MQSB=0.949721;RPB=0.994024;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.972435	GT:DP:DV:PL	0/1:51:7:93,0,255	0/1:42:8:123,0,255	0/1:56:15:245,0,255	0/1:53:13:208,0,255	.	0/1:61:13:221,0,255	0/1:57:16:253,0,255	0/1:69:18:236,0,255	0/1:63:15:231,0,255	0/1:46:12:215,0,255	0/1:53:13:192,0,255	0/1:60:20:255,0,255	0/1:42:12:180,0,255	0/1:42:7:144,0,255	0/1:50:15:255,0,255	0/1:52:18:255,0,255	.	0/1:59:23:255,0,255	0/1:59:20:255,0,255	0/1:48:12:149,0,255	0/1:62:17:255,0,255	0/1:94:32:255,0,255	0/1:40:12:206,0,255	0/1:62:20:247,0,255	0/1:62:19:255,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670978	rs556008880	C	T	181.47	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C642T:p.F214F	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs556008880	.	.	0.00166113	0.001	0.00519169	.	0.0009	0.0006	0.0673815622205	0.0673075724279	.	.	.	.	.	.	.	.	-0.413	0.955	2.163533,17.27	.	AC=23;AN=46;BQB=0.999791;DP4=620,344,232,124;DP=1766;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.099771;MQSB=0.640516;RPB=0.592948;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.116872	GT:DP:DV:PL	.	0/1:40:5:63,0,255	0/1:58:13:211,0,255	0/1:61:14:208,0,255	.	0/1:64:16:255,0,255	0/1:52:14:220,0,255	0/1:67:15:213,0,255	0/1:65:14:202,0,255	0/1:46:11:228,0,255	0/1:54:13:174,0,255	0/1:57:18:255,0,255	0/1:48:15:249,0,255	0/1:44:8:148,0,255	0/1:49:14:255,0,255	0/1:47:16:255,0,255	0/1:61:10:65,0,255	0/1:58:21:255,0,255	0/1:66:23:255,0,255	0/1:53:13:189,0,255	0/1:64:19:255,0,255	0/1:96:33:255,0,255	0/1:43:14:252,0,255	0/1:65:21:255,0,255	0/1:62:16:249,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670981	rs77476965	G	C	185.2	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.G645C:p.G215G	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs77476965	.	.	0.00166113	0.002	0.00539137	.	0.0007	0.0006	0.0673815622205	0.0673075724279	.	.	.	.	.	.	.	.	-0.967	0.243	.	.	AC=23;AN=46;BQB=0.967216;DP4=627,335,231,122;DP=1773;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.153355;MQSB=0.635221;RPB=0.509156;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.0568748	GT:DP:DV:PL	.	0/1:41:6:93,0,255	0/1:60:14:223,0,255	0/1:59:14:224,0,255	.	0/1:65:16:255,0,255	0/1:54:14:226,0,255	0/1:66:15:221,0,255	0/1:63:14:207,0,255	0/1:47:11:217,0,255	0/1:52:13:191,0,255	0/1:56:17:255,0,255	0/1:52:16:254,0,255	0/1:43:8:160,0,255	0/1:48:14:255,0,255	0/1:50:16:255,0,255	0/1:61:10:69,0,255	0/1:57:21:255,0,255	0/1:62:21:255,0,255	0/1:53:13:183,0,255	0/1:65:19:255,0,255	0/1:97:32:255,0,255	0/1:40:13:247,0,255	0/1:65:21:255,0,255	0/1:59:15:242,0,255	G	C	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670984	rs11619791	C	T	182.91	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C648T:p.P216P	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs11619791	.	.	0.00166113	0.001	0.0259585	0.0439	0.0343	0.0007	0.0666155714089	0.0673075724279	.	.	.	.	.	.	.	.	-0.539	-1.620	1.721021,14.53	.	AC=23;AN=46;BQB=0.978183;DP4=628,334,229,123;DP=1776;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.100761;MQSB=0.615601;RPB=0.550752;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.116872	GT:DP:DV:PL	.	0/1:39:5:66,0,255	0/1:61:14:221,0,255	0/1:58:14:210,0,255	.	0/1:63:17:255,0,255	0/1:54:14:234,0,255	0/1:66:14:206,0,255	0/1:64:14:204,0,255	0/1:48:11:222,0,255	0/1:50:13:191,0,255	0/1:57:17:255,0,255	0/1:54:16:246,0,255	0/1:43:8:155,0,255	0/1:49:13:255,0,255	0/1:51:16:255,0,255	0/1:61:10:69,0,255	0/1:56:20:255,0,255	0/1:61:22:255,0,255	0/1:52:13:191,0,255	0/1:65:19:255,0,255	0/1:96:32:255,0,255	0/1:43:14:252,0,255	0/1:64:21:255,0,255	0/1:59:15:238,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25670988	rs74564616	T	G	181.58	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.T652G:p.L218V	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs74564616	.	.	0.00166113	0.002	0.00559105	.	0.0006	0.0006	0.0689124657427	0.0673075724279	0.287,T	0.041,B	0.027,B	0.690836,D	0.004468,U	-0.835,N	-2.0,D	2.8944	0.692	0.559	.	.	AC=23;AN=46;BQB=0.761771;DP4=623,338,230,124;DP=1769;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.153355;MQSB=0.663176;RPB=0.586646;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.0539735	GT:DP:DV:PL	.	0/1:41:6:83,0,255	0/1:61:14:224,0,255	0/1:59:15:220,0,255	.	0/1:65:17:255,0,255	0/1:58:14:224,0,255	0/1:66:14:203,0,255	0/1:63:14:167,0,255	0/1:48:11:222,0,255	0/1:49:13:193,0,255	0/1:55:17:255,0,255	0/1:55:16:251,0,255	0/1:44:8:157,0,255	0/1:50:14:255,0,255	0/1:51:16:255,0,255	0/1:59:10:74,0,255	0/1:56:21:255,0,255	0/1:60:22:255,0,255	0/1:53:13:189,0,255	0/1:64:19:255,0,255	0/1:96:33:255,0,255	0/1:41:12:229,0,255	0/1:64:21:255,0,255	0/1:57:14:237,0,255	T	G	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671008	rs76447065	C	T	193.78	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C672T:p.T224T	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76447065	.	.	.	.	.	.	0.0022	0.0032	0.12642	0.23913	.	.	.	.	.	.	.	.	-1.657	-3.637	2.048429,16.52	.	AC=23;AN=46;BQB=0.897415;DP4=616,337,208,139;DP=1784;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.204801;MQSB=0.648344;RPB=0.890626;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.241547	GT:DP:DV:PL	.	0/1:44:7:112,0,255	0/1:67:16:255,0,255	0/1:57:11:184,0,255	.	0/1:55:15:255,0,255	0/1:59:14:247,0,255	0/1:64:14:237,0,255	0/1:58:14:237,0,255	0/1:46:10:220,0,255	0/1:47:11:164,0,255	0/1:54:18:255,0,255	0/1:54:14:216,0,255	0/1:42:8:169,0,255	0/1:46:12:255,0,255	0/1:53:17:255,0,255	0/1:59:11:158,0,255	0/1:52:19:255,0,255	0/1:65:23:255,0,255	0/1:53:14:242,0,255	0/1:64:19:255,0,255	0/1:98:32:255,0,255	0/1:40:14:255,0,255	0/1:64:19:255,0,255	0/1:59:15:255,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671015	rs75314628	A	G	190.74	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.A679G:p.S227G	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs75314628	.	.	0.00498339	0.0119	0.0251597	.	0.0019	0.0029	0.0696784079479	0.0697114192067	0.088,T	0.027,B	0.007,B	0.988823,N	0.001298,U	1.52,L	-2.44,D	2.9462	-0.777	0.934	.	.	AC=23;AN=46;BQB=0.604483;DP4=605,343,198,148;DP=1737;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.206404;MQSB=0.492608;RPB=0.930937;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.636426;VDB=0.232635	GT:DP:DV:PL	.	0/1:43:7:115,0,255	0/1:65:15:246,0,255	0/1:58:13:228,0,255	.	0/1:57:15:255,0,255	0/1:59:13:229,0,255	0/1:61:14:246,0,255	0/1:60:14:224,0,255	0/1:44:10:226,0,255	0/1:45:9:132,0,255	0/1:54:18:255,0,255	0/1:57:15:212,0,255	0/1:47:8:155,0,255	0/1:44:12:255,0,255	0/1:55:17:255,0,255	0/1:57:9:148,0,255	0/1:55:19:255,0,255	0/1:68:25:255,0,255	0/1:53:14:237,0,255	0/1:58:19:255,0,255	0/1:97:32:255,0,255	0/1:37:14:231,0,255	0/1:63:19:255,0,255	0/1:57:15:255,0,255	A	G	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671027	rs78826513	A	G	189.39	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.A691G:p.K231E	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs78826513	.	.	.	.	.	.	0.0020	0.0028	0.140625	0.23913	0.001,D	0.953,D	0.995,D	0.668825,D	0.000136,U	2.36,M	3.05,T	6.1165	0.692	2.375	5.443877,26.1	.	AC=23;AN=46;BQB=0.812762;DP4=571,367,187,145;DP=1678;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.154764;MQSB=0.640516;RPB=0.265431;SF=1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.236588	GT:DP:DV:PL	.	0/1:40:6:118,0,255	0/1:63:14:253,0,255	0/1:60:16:254,0,255	.	0/1:55:15:255,0,255	0/1:60:13:240,0,255	0/1:58:12:214,0,255	0/1:55:11:187,0,255	0/1:47:12:245,0,255	0/1:47:10:150,0,255	0/1:54:16:255,0,255	0/1:54:15:209,0,255	0/1:47:8:143,0,255	0/1:46:11:248,0,255	0/1:56:17:255,0,255	0/1:56:8:119,0,255	0/1:48:16:255,0,255	0/1:61:20:255,0,255	0/1:52:14:233,0,255	0/1:57:17:255,0,255	0/1:99:34:255,0,255	0/1:37:14:239,0,255	0/1:59:18:255,0,255	0/1:59:15:255,0,255	A	G	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671122	rs79072440	C	T	131.24	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C786T:p.Y262Y	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs79072440	.	.	.	.	.	.	0.0068	0.0080	0.134943	0.23913	.	.	.	.	.	.	.	.	-0.084	1.029	1.486760,13.24	.	AC=19;AN=38;BQB=0.477051;DP4=410,260,102,110;DP=1104;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.87639;MQSB=0.972875;RPB=0.622704;SF=2,3,6,7,8,9,10,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.894533	GT:DP:DV:PL	.	.	0/1:47:9:125,0,255	0/1:54:9:130,0,255	.	.	0/1:57:13:186,0,255	0/1:39:8:113,0,255	0/1:33:8:147,0,255	0/1:40:8:113,0,255	0/1:43:13:192,0,255	0/1:40:12:186,0,255	0/1:45:11:166,0,255	.	0/1:28:4:77,0,255	0/1:45:14:223,0,255	0/1:39:10:145,0,255	.	0/1:64:15:207,0,255	0/1:48:12:177,0,255	0/1:52:11:186,0,255	0/1:78:20:241,0,255	0/1:32:11:185,0,255	0/1:50:11:127,0,255	0/1:48:13:231,0,255	C	T	0	19	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671143	rs78671990	A	G	101.1	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.A807G:p.K269K	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs78671990	.	.	.	.	.	.	0.0004	0.0005	0.0894886	0.23913	.	.	.	.	.	.	.	.	0.632	0.504	.	.	AC=16;AN=32;BQB=0.859198;DP4=353,214,87,69;DP=905;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.428345;MQSB=0.989931;RPB=0.339883;SF=3,6,8,10,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.631962	GT:DP:DV:PL	.	.	.	0/1:45:6:81,0,255	.	.	0/1:57:14:194,0,255	.	0/1:36:7:84,0,255	.	0/1:44:14:228,0,255	0/1:38:7:93,0,255	0/1:48:12:168,0,255	.	0/1:30:5:102,0,255	0/1:41:10:139,0,255	0/1:38:6:61,0,255	.	0/1:63:14:183,0,255	0/1:47:8:62,0,255	0/1:50:9:148,0,255	0/1:65:11:97,0,255	0/1:28:11:193,0,255	0/1:48:9:119,0,255	0/1:45:13:231,0,255	A	G	0	16	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671168	rs78552667	C	T	73.87	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.C832T:p.R278C	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs78552667	.	.	.	.	.	.	0.0001	0.0003	0.0198864	0.208696	0.005,D	0.082,B	0.358,B	0.999999,D	0.000179,U	3.005,M	3.29,T	5.1429	-0.094	3.743	3.804054,23.4	.	AC=11;AN=22;BQB=0.559118;DP4=232,134,51,30;DP=566;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.152023;MQSB=0.914494;RPB=0.494856;SF=0,6,10,11,12,14,15,20,21,22,24;SGB=-0.616816;VDB=0.59895	GT:DP:DV:PL	0/1:42:6:65,0,255	.	.	.	.	.	0/1:49:10:155,0,255	.	.	.	0/1:43:9:167,0,255	0/1:37:7:105,0,255	0/1:45:11:166,0,255	.	0/1:30:4:64,0,255	0/1:34:5:66,0,255	.	.	.	.	0/1:48:6:73,0,255	0/1:54:6:58,0,255	0/1:24:6:107,0,255	.	0/1:41:11:180,0,255	C	T	0	11	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671172	rs79593984	C	A	77.56	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.C836A:p.T279K	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs79593984	.	.	.	.	.	.	0.0004	0.0005	0.0568182	0.23913	1.0,T	0.0,B	0.0,B	0.999831,N	0.004151,N	-3.22,N	1.79,T	5.0095	-0.179	2.769	.	.	AC=13;AN=26;BQB=0.453235;DP4=306,170,67,44;DP=724;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.152023;MQSB=0.914494;RPB=0.667813;SF=0,6,10,11,12,15,16,18,19,20,21,22,24;SGB=-0.616816;VDB=0.605618	GT:DP:DV:PL	0/1:42:6:57,0,255	.	.	.	.	.	0/1:51:10:145,0,255	.	.	.	0/1:45:9:161,0,255	0/1:36:8:137,0,255	0/1:46:10:130,0,255	.	.	0/1:38:8:107,0,255	0/1:38:5:66,0,255	.	0/1:61:13:118,0,255	0/1:56:10:83,0,255	0/1:50:7:95,0,255	0/1:55:7:65,0,255	0/1:24:6:107,0,255	.	0/1:45:12:200,0,255	C	A	0	13	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671195	rs201411821	A	G	103.28	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.A859G:p.R287G	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs201411821	.	.	.	.	.	.	0.0002	0.0002	0.0241477	0.191304	0.0,D	0.15,B	0.399,B	0.997704,D	0.000389,U	3.565,H	1.5,T	3.6845	0.632	2.718	4.911856,25.0	.	AC=18;AN=36;BQB=0.357466;DP4=410,258,110,59;DP=1046;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.208094;MQSB=0.929904;RPB=0.996447;SF=0,1,2,3,6,7,10,11,12,14,15,16,19,20,21,22,23,24;SGB=-0.636426;VDB=0.682525	GT:DP:DV:PL	0/1:42:7:96,0,255	0/1:42:5:70,0,255	0/1:49:8:98,0,255	0/1:49:8:103,0,255	.	.	0/1:57:16:255,0,255	0/1:35:4:58,0,255	.	.	0/1:48:13:232,0,255	0/1:37:11:184,0,255	0/1:53:13:192,0,255	.	0/1:36:10:168,0,255	0/1:42:8:105,0,255	0/1:46:10:185,0,255	.	.	0/1:61:9:80,0,255	0/1:51:7:84,0,255	0/1:64:9:77,0,255	0/1:26:7:123,0,255	0/1:43:8:130,0,255	0/1:56:16:255,0,255	A	G	0	18	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671200	rs76111404	C	T	117.2	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.C864T:p.I288I	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76111404	.	.	.	.	.	.	0.0005	0.0002	0.0653409	0.23913	.	.	.	.	.	.	.	.	0.759	3.776	1.235470,11.93	.	AC=23;AN=46;BQB=0.968735;DP4=524,323,160,79;DP=1363;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.100761;MQSB=0.912368;RPB=0.360595;SF=0,1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.184963	GT:DP:DV:PL	0/1:39:5:66,0,255	0/1:42:6:80,0,255	0/1:48:8:107,0,255	0/1:49:8:103,0,255	.	0/1:52:8:117,0,255	0/1:57:16:255,0,255	0/1:36:5:77,0,255	0/1:44:14:210,0,255	0/1:47:9:140,0,255	0/1:46:11:194,0,255	0/1:40:12:200,0,255	0/1:50:12:196,0,255	.	0/1:37:11:168,0,255	0/1:44:13:228,0,255	0/1:45:10:187,0,255	0/1:39:6:80,0,255	0/1:68:18:176,0,255	0/1:59:15:199,0,255	0/1:53:8:99,0,255	0/1:66:12:112,0,255	0/1:27:8:128,0,255	0/1:43:8:130,0,255	0/1:55:16:252,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671206	rs76614854	A	G	120.45	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.A870G:p.R290R	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76614854	.	.	.	.	.	.	0.0005	0.0002	0.0653409	0.23913	.	.	.	.	.	.	.	.	0.632	0.807	.	.	AC=23;AN=46;BQB=0.877514;DP4=530,327,159,81;DP=1390;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.099771;MQSB=0.939456;RPB=0.447704;SF=0,1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.181959	GT:DP:DV:PL	0/1:40:5:64,0,255	0/1:43:6:78,0,255	0/1:50:9:126,0,255	0/1:52:8:94,0,255	.	0/1:50:8:123,0,255	0/1:57:16:254,0,255	0/1:38:5:71,0,255	0/1:46:15:215,0,255	0/1:50:10:151,0,255	0/1:46:12:222,0,255	0/1:40:12:217,0,255	0/1:47:11:183,0,255	.	0/1:37:11:179,0,255	0/1:46:13:223,0,255	0/1:45:10:187,0,255	0/1:40:7:93,0,255	0/1:63:16:181,0,255	0/1:58:15:201,0,255	0/1:50:7:87,0,255	0/1:68:12:126,0,255	0/1:28:8:126,0,255	0/1:45:8:125,0,255	0/1:58:16:252,0,255	A	G	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671210	rs80062522	C	T	122.08	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	stopgain	PABPC3:NM_030979:exon1:c.C874T:p.Q292X	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs80062522	.	.	.	.	.	.	0.0005	0.0002	0.0653409	0.23913	.	.	.	1,D	0.000367,U	.	.	7.5489	0.759	5.306	9.466953,35	.	AC=23;AN=46;BQB=0.868208;DP4=519,329,166,81;DP=1402;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.099771;MQSB=0.939456;RPB=0.459365;SF=0,1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.184963	GT:DP:DV:PL	0/1:40:5:64,0,255	0/1:45:6:66,0,255	0/1:49:11:162,0,255	0/1:49:8:96,0,255	.	0/1:50:8:116,0,255	0/1:55:16:255,0,255	0/1:38:5:71,0,255	0/1:44:14:224,0,255	0/1:48:9:135,0,255	0/1:46:12:222,0,255	0/1:39:13:229,0,255	0/1:46:11:185,0,255	.	0/1:37:11:176,0,255	0/1:47:14:227,0,255	0/1:45:10:187,0,255	0/1:41:7:79,0,255	0/1:69:21:214,0,255	0/1:56:13:171,0,255	0/1:53:8:108,0,255	0/1:67:12:116,0,255	0/1:28:8:126,0,255	0/1:44:8:131,0,255	0/1:59:17:255,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671292	rs80261016	C	T	165.44	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	missense SNV	PABPC3:NM_030979:exon1:c.C956T:p.T319I	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs80261016	.	.	.	.	.	.	0	0	0.159091	0.252174	0.002,D	0.45,P	0.726,P	0.99982,D	0.000186,U	1.79,L	2.36,T	7.5489	0.759	5.306	5.492057,26.2	.	AC=23;AN=46;BQB=0.63961;DP4=609,279,190,99;DP=1490;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.015984;MQSB=0.987392;RPB=0.607338;SF=0,1,2,3,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.0797975	GT:DP:DV:PL	0/1:46:10:200,0,255	0/1:43:9:170,0,255	0/1:59:16:255,0,255	0/1:51:6:72,0,255	.	0/1:48:8:156,0,255	0/1:56:15:204,0,255	0/1:37:7:101,0,255	0/1:53:13:233,0,255	0/1:60:17:255,0,255	0/1:61:16:255,0,255	0/1:40:15:255,0,255	0/1:38:8:161,0,255	.	0/1:36:13:231,0,255	0/1:53:16:255,0,255	0/1:49:10:186,0,255	0/1:50:8:110,0,255	0/1:69:20:255,0,255	0/1:60:14:201,0,255	0/1:46:8:143,0,255	0/1:75:17:195,0,255	0/1:35:12:255,0,255	0/1:54:10:198,0,255	0/1:58:21:255,0,255	C	T	0	23	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671320	rs756628931	A	G	142.72	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	synonymous SNV	PABPC3:NM_030979:exon1:c.A984G:p.E328E	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs756628931	.	.	.	.	.	.	0.0003	0.0001	.	0.230435	.	.	.	.	.	.	.	.	-0.150	1.015	.	.	AC=19;AN=38;BQB=0.0988549;DP4=528,253,131,101;DP=1274;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0375775;MQSB=0.994031;RPB=0.338465;SF=0,1,2,6,8,9,10,11,12,14,15,16,18,19,20,21,22,23,24;SGB=-0.651104;VDB=0.0116902	GT:DP:DV:PL	0/1:47:8:118,0,255	0/1:50:9:122,0,255	0/1:60:14:215,0,255	.	.	.	0/1:63:14:127,0,255	.	0/1:53:11:144,0,255	0/1:56:13:199,0,255	0/1:61:14:229,0,255	0/1:47:14:244,0,255	0/1:40:9:139,0,255	.	0/1:35:14:242,0,255	0/1:58:14:196,0,255	0/1:50:7:86,0,255	.	0/1:63:19:255,0,255	0/1:59:12:150,0,255	0/1:45:7:108,0,255	0/1:77:13:153,0,255	0/1:32:12:254,0,255	0/1:59:9:139,0,255	0/1:58:19:255,0,255	A	G	0	19	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	13	25671369	rs76804900	G	T	118.79	PASS	PABPC3	poly(A) binding protein, cytoplasmic 3	exonic	NM_030979	.	stopgain	PABPC3:NM_030979:exon1:c.G1033T:p.E345X	ENST00000281589.3	.	13q12.13	.	.	.	Score=0.906587;Name=chr12:64215602	.	rs76804900	.	.	.	.	.	.	0.0002	0	.	0.191304	.	.	.	1,D	0.000207,U	.	.	7.5489	0.759	6.593	11.717043,38	.	AC=14;AN=28;BQB=0.474465;DP4=473,170,55,97;DP=973;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.122495;MQSB=0.974995;RPB=0.00570973;SF=0,2,9,10,11,12,14,15,18,19,20,21,22,24;SGB=-0.616816;VDB=0.00595258	GT:DP:DV:PL	0/1:53:6:63,0,255	.	0/1:63:12:178,0,255	.	.	.	.	.	.	0/1:48:11:205,0,255	0/1:61:11:189,0,255	0/1:47:11:205,0,255	0/1:40:8:79,0,255	.	0/1:41:11:181,0,255	0/1:62:10:97,0,255	.	.	0/1:69:16:226,0,255	0/1:64:9:115,0,255	0/1:52:8:110,0,255	0/1:90:14:146,0,255	0/1:38:13:229,0,255	.	0/1:67:12:132,0,255	G	T	0	14	.	.	.	.		.	.	MRNA_BINDING;RNA_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
H	13	26133208	rs182400743	G	C	201	PASS	ATP8A2	ATPase, aminophospholipid transporter, class I, type 8A, member 2	splicing	NM_001313741,NM_016529	NM_001313741:exon14:c.1232+9G>C;NM_016529:exon14:c.1352+9G>C	.	.	ENST00000381655.2,ENST00000255283.8	.	13q12.13	.	.	.	.	.	rs182400743	.	.	.	.	.	.	6.653e-05	0.0009	.	.	.	.	.	.	.	.	.	.	-0.801	0.005	.	.	AC=1;AN=2;BQB=0.269397;DP4=9,2,5,5;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997524;SF=20;SGB=-0.670168;VDB=0.983908	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:10:234,0,255	.	.	.	.	G	C	0	1	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)	.	.	.	22892528|20683487|18326629|11015572|10551800	NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_PROLIFERATION	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	
L	13	28896979	rs56314249	C	T	114.8	PASS	FLT1	fms-related tyrosine kinase 1	exonic	NM_002019	.	synonymous SNV	FLT1:NM_002019:exon21:c.G2901A:p.A967A	ENST00000540678.1,ENST00000282397.4	.	13q12.2	.	.	.	.	.	rs56314249	CLINSIG=not provided;CLNDBN=Carcinoma_of_colon;CLNACC=RCV000149496.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0699790:114500:269533000	.	0.00498339	0.0089	0.0447284	0.0208	0.0499	0.0124	0.0045941793415	0.00721154540865	.	.	.	.	.	.	.	.	-2.804	-2.451	1.487905,13.25	.	AC=2;AN=4;BQB=0.957088;DP4=24,2,14,0;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.602289;SF=2,20;SGB=-0.511536;VDB=0.142856	GT:DP:DV:PL	.	.	0/1:18:3:66,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:11:232,0,255	.	.	.	.	C	T	0	2	fms-related tyrosine kinase-1 (vascular endothelial growth factor/vascular permeability factor receptor)	.	.	.	22596155|21623369|18779584|18515749|18492751|18368052|17051153|16453023|16341007|16172397|14764923|14568965|12796773|12618519|12574630|11443214|10194760|9393862|8806634|8248162|7914866|7596435|3115921|2158038	MULTI_ORGANISM_PROCESS;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REPRODUCTION;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;EXTRACELLULAR_REGION;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;EXTRACELLULAR_REGION_PART;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;EXTRACELLULAR_SPACE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_ENDOCYTOSIS;KEGG_FOCAL_ADHESION	PID_GLYPICAN_1PATHWAY;PID_HIF2PATHWAY;PID_S1P_S1P3_PATHWAY;PID_VEGF_VEGFR_PATHWAY;PID_VEGFR1_PATHWAY;PID_VEGFR1_2_PATHWAY	BIOCARTA_NO1_PATHWAY;BIOCARTA_VEGF_PATHWAY	REACTOME_VEGF_LIGAND_RECEPTOR_INTERACTIONS	
M	13	31233222	rs60077235	T	G	222	PASS	USPL1	ubiquitin specific peptidase like 1	exonic	NM_005800	.	missense SNV	USPL1:NM_005800:exon9:c.T3008G:p.I1003S	ENST00000255304.4	.	13q12.3	.	.	.	.	.	rs60077235	.	.	0.0215947	0.0179	0.00359425	7.7e-05	0.0015	0.0208	0.019908118683	0.0192307865385	0.73,T	0.083,B	0.228,B	1,N	0.792831,N	1.75,L	2.45,T	3.8441	0.747	-0.412	.	.	AC=2;AN=4;BQB=0.714018;DP4=22,16,16,15;DP=85;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.697901;SF=20,21;SGB=-0.690438;VDB=0.774387	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:17:255,0,255	0/1:29:14:255,0,255	.	.	.	T	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	13	32972884	rs1801426	A	G	132.5	PASS	BRCA2	breast cancer 2, early onset	exonic	NM_000059	.	missense SNV	BRCA2:NM_000059:exon27:c.A10234G:p.I3412V	ENST00000380152.3,ENST00000544455.1	.	13q13.1	.	.	.	.	.	rs1801426	CLINSIG=Benign|Benign|Benign|Benign|Benign;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_2|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNACC=RCV000034426.3|RCV000112853.5|RCV000120373.5|RCV000130982.2|RCV000157754.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen|MedGen:SNOMED_CT|MedGen:OMIM:SNOMED_CT;CLNDSDBID=CN221809|C2675520:612555|CN169374|C0027672:699346009|C0346153:114480:254843006	.	0.0249169	0.0208	0.0449281	0.0373	0.0227	0.0260	0.0249169	0.0216345899038	0.923,T	0.004,B	0.002,B	1,N	0.038474,N	0.69,N	5.88,T	4.7878	-0.242	0.460	.	.	AC=2;AN=4;BQB=0.864302;DP4=3,11,4,6;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.697593;SF=2,20;SGB=-0.556411;VDB=0.360777	GT:DP:DV:PL	.	.	0/1:13:4:117,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:6:215,0,105	.	.	.	.	A	G	0	2	{Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia, complementation group D1, 605724 (3); {Prostate cancer}, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3); {Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pancreatic cancer 2}, 613347 (3)	.	Breast cancer(CM970189)	ATT-GTT|Ile3412Val|c.10234A>G|p.I3412V(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9150152&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=20981092&dopt=Abstract|http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=21965345&dopt=Abstract)	9150152|20981092|21965345|24776801|21654808|20729832|20418484|19656774|18264088|18212739|17924331|16950820|16914443|16909395|16825431|16793542|16141007|15829967|15829966|15800615|15703751|15689453|15645491|15375219|15235023|15115758|15070707|14681210|14670928|14636569|14569130|14559878|12955716|12928478|12736286|12474142|12442171|12228710|12145750|12097290|12093742|12065746|11929857|11694875|11447276|11359068|11257103|11239456|11239455|11239454|11179017|11170890|11170288|11158174|11062481|11039575|10807692|10570174|10445022|10433620|10417300|10398279|9774970|9758598|9660919|9634522|9585617|9585613|9171369|9171368|9150155|9145678|9140390|9126738|9126734|9126728|9063750|9012404|8988179|8917547|8896551|8841192|8841191|8812419|8808615|8781411|8673092|8673090|8640237|8640236|8640235|8589730|8589722|8524414|8193701|8091231|8075631|7597059	DNA_METABOLIC_PROCESS;DNA_REPAIR;CYTOKINESIS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;CENTROSOME_ORGANIZATION_AND_BIOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;RESPONSE_TO_STEROID_HORMONE_STIMULUS;CELL_CYCLE_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;CELL_DIVISION;MICROTUBULE_ORGANIZING_CENTER_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NUCLEOTIDE_EXCISION_REPAIR;CELL_CYCLE_GO_0007049;CENTROSOME_CYCLE;RESPONSE_TO_HORMONE_STIMULUS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;RESPONSE_TO_ORGANIC_SUBSTANCE;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;MEMBRANE_BOUND_VESICLE;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;VESICLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSKELETON;CYTOPLASMIC_VESICLE;MICROTUBULE_ORGANIZING_CENTER;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;SECRETORY_GRANULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;HISTONE_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	KEGG_HOMOLOGOUS_RECOMBINATION;KEGG_PATHWAYS_IN_CANCER;KEGG_PANCREATIC_CANCER	PID_FANCONI_PATHWAY;PID_P73PATHWAY;PID_ATR_PATHWAY;PID_FOXM1PATHWAY;PID_DELTANP63PATHWAY	BIOCARTA_ATRBRCA_PATHWAY	REACTOME_MEIOSIS;REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS;REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DOUBLE_STRAND_BREAK_REPAIR;REACTOME_DNA_REPAIR;REACTOME_MEIOTIC_RECOMBINATION	PS3,BP6
L	13	42872716	rs142812726	A	G	222	PASS	AKAP11	A kinase (PRKA) anchor protein 11	exonic	NM_016248	.	synonymous SNV	AKAP11:NM_016248:exon7:c.A399G:p.S133S	ENST00000025301.2	.	13q14.11	.	.	Score=866;Name=V$RORA2_01	.	.	rs142812726	.	.	0.0116279	0.0109	0.0081869	0.0002	0.0042	0.0139	0.0137825388974	0.0108173020433	.	.	.	.	.	.	.	.	0.543	0.073	.	2.52	AC=1;AN=2;BQB=0.377804;DP4=7,2,6,2;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959189;SF=20;SGB=-0.651104;VDB=0.681298	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:8:255,0,227	.	.	.	.	A	G	0	1	A-kinase anchor protein 11	.	.	.	21890631|9734811|8621616	SIGNAL_TRANSDUCTION;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	KINASE_BINDING;PROTEIN_KINASE_BINDING;PROTEIN_PHOSPHATASE_BINDING;ENZYME_BINDING;PHOSPHATASE_BINDING	.	.	.	.	
M	13	46170726	rs28548352	A	G	38.33	PASS	ERICH6B	glutamate-rich 6B	exonic	NM_182542	.	missense SNV	ERICH6B:NM_182542:exon3:c.T415C:p.Y139H	ENST00000298738.2	.	13q14.13	.	.	.	.	.	rs28548352	.	.	.	.	.	.	0	0	.	.	0.132,T	0.068,B	0.182,B	1,N	.	0.55,N	3.32,T	0.1132	0.160	-6.553	.	.	AC=3;AN=6;BQB=0.558407;DP4=35,40,6,9;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0220813;SF=15,20,22;SGB=-0.590765;VDB=0.00339671	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:5:59,0,255	.	.	.	.	0/1:37:7:95,0,255	.	0/1:20:3:69,0,255	.	.	A	G	0	3	.	.	.	.		.	.	.	.	.	.	.	PM2
H	13	52952690	rs199830506	C	T	222	PASS	THSD1	thrombospondin, type I, domain containing 1	exonic	NM_018676,NM_199263	.	missense SNV	THSD1:NM_199263:exon4:c.G1256A:p.S419N,THSD1:NM_018676:exon5:c.G1415A:p.S472N	ENST00000544466.1,ENST00000349258.4,ENST00000258613.4	.	13q14.3	.	.	Score=940;Name=V$AP4_Q6	.	.	rs199830506	.	.	0.00332226	0.005	0.000998403	.	4.122e-05	0.0006	0.00332226	0.00332226	0.24,T	0.037,B	0.061,B	0.935778,D	0.000650,D	1.295,L	1.33,T	10.0215	1.566	2.680	.	5.21	AC=1;AN=2;BQB=0.960579;DP4=22,23,16,12;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.208874;SF=20;SGB=-0.693054;VDB=0.556595	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:28:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	13	53421358	rs367757171	G	A	222	PASS	PCDH8	protocadherin 8	exonic	NM_002590,NM_032949	.	missense SNV	PCDH8:NM_002590:exon1:c.C1214T:p.A405V,PCDH8:NM_032949:exon1:c.C1214T:p.A405V	ENST00000377942.3,ENST00000338862.4	CpG: 351	13q14.3	.	.	Score=923;Name=V$SP1_Q6	Score=0.910274;Name=chr13:53774328	.	rs367757171	.	.	0.00166113	0.001	0.000199681	.	0.0020	0.0170	0.00459417943338	0.00166113	0.008,D	0.987,D	1.0,D	0.998535,D	0.000517,D	1.965,M	0.51,T	13.8033	1.099	8.725	4.609905,24.4	3.67	AC=1;AN=2;BQB=0.834325;DP4=23,9,15,5;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.117616;SF=20;SGB=-0.692067;VDB=0.331007	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:20:255,0,255	.	.	.	.	G	A	0	1	Protocadherin 8	.	.	.	11549318|9787079|9315676	CELL_CELL_SIGNALING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PP3
H	13	60485969	rs770994435	T	G	193	PASS	DIAPH3	diaphanous-related formin 3	exonic	NM_001042517,NM_001258366,NM_001258367,NM_001258368,NM_001258369,NM_001258370,NM_030932	.	missense SNV	DIAPH3:NM_001258370:exon14:c.A1478C:p.N493T,DIAPH3:NM_030932:exon14:c.A1478C:p.N493T,DIAPH3:NM_001258367:exon18:c.A2129C:p.N710T,DIAPH3:NM_001258368:exon18:c.A2057C:p.N686T,DIAPH3:NM_001258366:exon19:c.A2234C:p.N745T,DIAPH3:NM_001042517:exon20:c.A2267C:p.N756T,DIAPH3:NM_001258369:exon20:c.A2267C:p.N756T	ENST00000377908.2,ENST00000400324.4,ENST00000400320.1,ENST00000465066.1,ENST00000400319.1,ENST00000400330.1,ENST00000267215.4	.	13q21.2	.	.	Score=804;Name=V$MEF2_03	.	.	rs770994435	.	.	.	.	.	.	5.185e-05	0.0007	.	.	0.014,D	0.999,D	1.0,D	0.998209,D	0.000000,D	2.865,M	2.29,T	16.7886	2.363	7.525	6.257032,28.9	6.15	AC=3;AN=6;BQB=0.266194;DP4=9,12,8,24;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.930476;SF=8,9,20;SGB=-0.670168;VDB=0.0138082	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:16:10:212,0,202	0/1:16:9:211,0,239	.	.	.	.	.	.	.	.	.	.	0/1:21:13:255,0,205	.	.	.	.	T	G	0	3	Auditory neuropathy, autosomal dominant, 1, 609129 (3)	.	.	.	20624953|19457867|18755006|15520414|14767582	.	.	.	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY	.	.	PP3
L	13	78235755	rs58508911	G	A	222	PASS	LOC100129307	putative UPF0607 protein ENSP00000383144	exonic	NM_001310140	.	missense SNV	LOC100129307:NM_001310140:exon1:c.C1007T:p.P336L	.	.	13q22.3	.	.	.	Score=0.961215;Name=chr8:26867977	.	rs58508911	.	.	0.0830565	0.0694	0.0433307	.	.	.	.	0.0745192427885	.	.	.	.	.	.	.	.	0.088	0.089	.	.	AC=9;AN=18;BQB=0.868964;DP4=186,167,183,169;DP=914;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.573314;MQSB=0.976483;RPB=0.784737;SF=0,4,7,10,11,13,14,20,21;SGB=-0.693141;VDB=0.0338538	GT:DP:DV:PL	0/1:76:37:255,0,255	.	.	.	0/1:79:37:255,0,255	.	.	0/1:74:38:255,0,255	.	.	0/1:74:42:255,0,255	0/1:81:32:255,0,255	.	0/1:80:39:255,0,255	0/1:63:33:255,0,255	.	.	.	.	.	0/1:75:43:255,0,255	0/1:103:51:255,0,255	.	.	.	G	A	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	13	78236401	rs4310744	T	C	222	PASS	LOC100129307	putative UPF0607 protein ENSP00000383144	exonic	NM_001310140	.	missense SNV	LOC100129307:NM_001310140:exon1:c.A361G:p.M121V	.	.	13q22.3	.	.	.	Score=0.961215;Name=chr8:26867977	.	rs4310744	.	.	.	.	.	.	.	.	.	0.0565217	.	.	.	.	.	.	.	.	-2.624	-1.979	.	.	AC=9;AN=18;BQB=0.99862;DP4=312,192,364,193;DP=1457;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=3.25648e-08;MQSB=0.64492;RPB=0.992077;SF=0,4,7,10,11,13,14,20,21;SGB=-0.693147;VDB=0.321983	GT:DP:DV:PL	0/1:99:52:255,0,255	.	.	.	0/1:108:50:255,0,255	.	.	0/1:124:66:255,0,255	.	.	0/1:122:64:255,0,255	0/1:102:49:255,0,255	.	0/1:126:67:255,0,255	0/1:127:66:255,0,255	.	.	.	.	.	0/1:115:65:255,0,255	0/1:138:78:255,0,255	.	.	.	T	C	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	13	79176117	rs866960156	T	C	177.67	PASS	POU4F1	POU class 4 homeobox 1	exonic	NM_006237	.	synonymous SNV	POU4F1:NM_006237:exon2:c.A693G:p.A231A	ENST00000606124.1,ENST00000444769.3,ENST00000607860.1,ENST00000607205.1,ENST00000560209.2,ENST00000560584.2,ENST00000606376.1,ENST00000430549.2,ENST00000377208.5,ENST00000606429.1,ENST00000607220.1	CpG: 214	13q31.1	.	.	.	.	Score=338;Name="1264470:(CCG)n(Simple_repeat)"	rs866960156	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	-0.748	-2.141	.	.	AC=3;AN=6;BQB=1;DP4=10,30,12,26;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974693;SF=3,20,21;SGB=-0.636426;VDB=0.132938	GT:DP:DV:PL	.	.	.	0/1:18:7:142,0,154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:235,0,255	0/1:38:22:255,0,247	.	.	.	T	C	0	3	POU domain, class 4, transcription factor 1	.	.	.	12934100|8995448|8941380|8248179|7623109|1357630	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;SYNAPTOGENESIS;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;EXTRACELLULAR_STRUCTURE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_GENE_EXPRESSION;SYNAPSE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEUROGENESIS;REGULATION_OF_METABOLIC_PROCESS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	PID_P53DOWNSTREAMPATHWAY;PID_ERA_GENOMIC_PATHWAY	.	.	
L	13	96743725	.	C	G	222	PASS	HS6ST3	heparan sulfate 6-O-sulfotransferase 3	exonic	NM_153456	.	synonymous SNV	HS6ST3:NM_153456:exon1:c.C609G:p.G203G	ENST00000376705.2	CpG: 154	13q32.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.489	5.418	1.369601,12.63	5.3	AC=1;AN=2;BQB=0.95286;DP4=25,13,28,17;DP=109;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.831335;SF=20;SGB=-0.693147;VDB=0.647717	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:83:45:255,0,255	.	.	.	.	C	G	0	1	Heparan sulfate 6-O-sulfotransferase 3	.	.	.	11991713|10644753	.	.	.	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	PM2
M	13	103388997	.	C	T	174	PASS	CCDC168	coiled-coil domain containing 168	exonic	NM_001146197	.	missense SNV	CCDC168:NM_001146197:exon4:c.G14050A:p.E4684K	ENST00000322527.2	.	13q33.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.008,B	0.004,B	1,N	0.000342,N	0,N	3.82,T	1.3128	-0.829	-0.721	.	.	AC=1;AN=2;BQB=0.852144;DP4=14,6,7,2;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.598331;SF=20;SGB=-0.662043;VDB=0.798273	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:9:208,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	13	103514646	.	A	G	222	PASS	BIVM-ERCC5,ERCC5	BIVM-ERCC5 readthrough	exonic	NM_000123,NM_001204425	.	missense SNV	ERCC5:NM_000123:exon8:c.A1147G:p.I383V,BIVM-ERCC5:NM_001204425:exon16:c.A2509G:p.I837V	ENST00000355739.4,ENST00000602836.1	.	13q33.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0,T	0.003,B	0.001,B	0.99973,N	0.000786,N	-1.21,N	2.2,T	3.7566	0.423	0.082	.	3.26	AC=1;AN=2;BQB=0.697356;DP4=18,11,21,9;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.35439;SF=20;SGB=-0.693097;VDB=0.261952	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:30:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		DNA_METABOLIC_PROCESS;BIOPOLYMER_CATABOLIC_PROCESS;DNA_REPAIR;CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;PROGRAMMED_CELL_DEATH;RESPONSE_TO_LIGHT_STIMULUS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_CATABOLIC_PROCESS;RESPONSE_TO_STRESS;DNA_CATABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;MACROMOLECULE_CATABOLIC_PROCESS;NUCLEOTIDE_EXCISION_REPAIR;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;CATABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;APOPTOSIS_GO	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	ENDODEOXYRIBONUCLEASE_ACTIVITY;PROTEIN_HOMODIMERIZATION_ACTIVITY;SINGLE_STRANDED_DNA_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;IDENTICAL_PROTEIN_BINDING;PROTEIN_N_TERMINUS_BINDING;DEOXYRIBONUCLEASE_ACTIVITY;DOUBLE_STRANDED_DNA_BINDING;ENDONUCLEASE_ACTIVITY;STRUCTURE_SPECIFIC_DNA_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;NUCLEASE_ACTIVITY;DNA_BINDING	KEGG_NUCLEOTIDE_EXCISION_REPAIR	.	.	REACTOME_TRANSCRIPTION_COUPLED_NER_TC_NER;REACTOME_NUCLEOTIDE_EXCISION_REPAIR;REACTOME_FORMATION_OF_TRANSCRIPTION_COUPLED_NER_TC_NER_REPAIR_COMPLEX;REACTOME_DNA_REPAIR;REACTOME_GLOBAL_GENOMIC_NER_GG_NER;REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER	PM2
H	13	113201891	rs112103679	T	A	89.47	PASS	TUBGCP3	tubulin, gamma complex associated protein 3	exonic	NM_001286279	.	missense SNV	TUBGCP3:NM_001286279:exon10:c.A1211T:p.D404V	ENST00000375669.3,ENST00000261965.3	CpG: 28	13q34	.	.	.	.	.	rs112103679	.	.	0.00166113	0.001	0.00778754	.	0.0085	0.0005	0.00166113	0.00360576894231	.	.	.	.	.	.	.	.	-0.739	0.196	.	.	AC=9;AN=18;BQB=0.417865;DP4=215,122,40,50;DP=762;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.992814;MQSB=0.909914;RPB=0.0304891;SF=0,2,4,6,16,20,21,23,24;SGB=-0.616816;VDB=0.00513213	GT:DP:DV:PL	0/1:38:6:78,0,255	.	0/1:42:15:206,0,255	.	0/1:41:7:72,0,255	.	0/1:48:8:89,0,255	.	.	.	.	.	.	.	.	.	0/1:54:12:163,0,255	.	.	.	0/1:58:11:110,0,255	0/1:72:13:130,0,255	.	0/1:45:8:77,0,255	0/1:29:10:199,0,255	T	A	0	9	.	.	.	.		.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;SPINDLE_MICROTUBULE;MICROTUBULE;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_RECRUITMENT_OF_NUMA_TO_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	
H	13	113201894	rs112767817	C	T	81.75	PASS	TUBGCP3	tubulin, gamma complex associated protein 3	exonic	NM_001286279	.	missense SNV	TUBGCP3:NM_001286279:exon10:c.G1208A:p.R403H	ENST00000375669.3,ENST00000261965.3	CpG: 28	13q34	.	.	.	.	.	rs112767817	.	.	0.00166113	0.001	0.00778754	.	0.0073	0.0003	0.00166113	0.00240384754808	.	.	.	.	.	.	.	.	-1.913	-0.021	.	.	AC=6;AN=12;BQB=0.647277;DP4=150,99,23,40;DP=533;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=3.51617e-06;SF=2,6,16,20,21,24;SGB=-0.680642;VDB=1.76594e-06	GT:DP:DV:PL	.	.	0/1:42:12:147,0,255	.	.	.	0/1:48:8:83,0,255	.	.	.	.	.	.	.	.	.	0/1:55:10:121,0,255	.	.	.	0/1:60:11:105,0,255	0/1:75:13:80,0,255	.	.	0/1:32:9:167,0,255	C	T	0	6	.	.	.	.		.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;SPINDLE_POLE;CYTOPLASMIC_PART;MICROTUBULE_ORGANIZING_CENTER_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;SPINDLE;CYTOSKELETON;SPINDLE_MICROTUBULE;MICROTUBULE;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_RECRUITMENT_OF_NUMA_TO_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	
L	13	114504663	rs41284482	G	A	222	PASS	TMEM255B	transmembrane protein 255B	exonic	NM_182614	.	missense SNV	TMEM255B:NM_182614:exon7:c.G547A:p.V183I	ENST00000375353.3	.	13q34	.	.	.	.	.	rs41284482	.	.	0	.	0.0127796	0.0095	0.0252	0.0002	0.00142045	.	0.0,D	0.996,D	1.0,D	1,D	.	2.945,M	0.48,T	16.3895	2.140	4.324	5.210691,25.6	4.69	AC=1;AN=2;BQB=0.334239;DP4=18,10,26,19;DP=97;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999598;SF=20;SGB=-0.693147;VDB=0.0788715	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:45:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	13	114538581	rs555084854	G	A	222	PASS	GAS6	growth arrest-specific 6	exonic	NM_000820	.	missense SNV	GAS6:NM_000820:exon7:c.C617T:p.A206V	ENST00000357389.3,ENST00000458001.1,ENST00000327773.6,ENST00000355761.4,ENST00000450766.1	CpG: 24	13q34	.	.	Score=748;Name=V$SEF1_C	.	.	rs555084854	.	.	.	.	.	.	8.379e-05	0.0012	.	.	0.775,T	0.073,B	0.122,B	1,D	.	-0.235,N	-2.89,D	9.0255	2.151	3.898	1.720383,14.52	4.71	AC=2;AN=4;BQB=0.971566;DP4=20,24,22,28;DP=130;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.673212;SF=13,20;SGB=-0.692976;VDB=0.000140342	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:26:255,0,255	.	.	.	.	.	.	0/1:41:24:255,0,255	.	.	.	.	G	A	0	2	Growth arrest-specific 6	.	.	.	21501828|15650770|15108283|12122116|11175853|8595896|8336730|7867073|7854420|1347472	SIGNAL_TRANSDUCTION;CELL_PROLIFERATION_GO_0008283	.	RECEPTOR_BINDING	.	.	.	.	
L	14	19553842	rs200726878	G	A	129.5	PASS	POTEG	POTE ankyrin domain family, member G	exonic	NM_001005356	.	synonymous SNV	POTEG:NM_001005356:exon1:c.G426A:p.K142K	ENST00000409832.3	.	14q11.2	.	.	.	Score=0.9935;Name=chr14:19971636	.	rs200726878	.	.	0.0365449	0.0347	0.0401358	.	0.0288	0.0253	0.0365449	0.0365449	.	.	.	.	.	.	.	.	0.104	0.728	.	.	AC=2;AN=4;BQB=0.731051;DP4=69,143,26,48;DP=369;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.00311794;MQSB=0.207976;RPB=0.829298;SF=19,20;SGB=-0.692914;VDB=0.00108335	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:94:25:135,0,255	0/1:192:49:193,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	14	20019785	rs200978838	C	T	37.64	PASS	POTEM	POTE ankyrin domain family, member M	exonic	NM_001145442	.	missense SNV	POTEM:NM_001145442:exon1:c.G436A:p.A146T	ENST00000551509.1	.	14q11.2	.	.	.	Score=0.9935;Name=chr14:19471933	.	rs200978838	.	.	.	.	.	.	0.0021	0.0007	.	.	0.0,D	0.999,D	0.999,D	0.998909,N	.	3.1,M	-0.23,T	5.9654	1.006	2.100	4.169657,23.8	.	AC=3;AN=6;BQB=0.899815;DP4=31,5,16,0;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=38;MQB=0.623736;MQSB=1;RPB=0.695312;SF=18,20,22;SGB=-0.616816;VDB=0.0493998	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:6:102,0,129	.	0/1:18:4:57,0,168	.	0/1:21:6:56,0,234	.	.	C	T	0	3	.	.	.	.		.	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	14	20019795	rs201013704	C	T	45.16	PASS	POTEM	POTE ankyrin domain family, member M	exonic	NM_001145442	.	synonymous SNV	POTEM:NM_001145442:exon1:c.G426A:p.K142K	ENST00000551509.1	.	14q11.2	.	.	.	Score=0.9935;Name=chr14:19471933	.	rs201013704	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	0.100	0.390	.	.	AC=1;AN=2;BQB=1;DP4=13,0,5,0;DP=18;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=0.645028;RPB=0.439968;SF=20;SGB=-0.590765;VDB=0.112489	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:5:79,0,145	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
L	14	20019864	rs769577024	G	A	84.4	PASS	POTEM	POTE ankyrin domain family, member M	exonic	NM_001145442	.	synonymous SNV	POTEM:NM_001145442:exon1:c.C357T:p.P119P	ENST00000551509.1	.	14q11.2	.	.	.	Score=0.9935;Name=chr14:19471933	.	rs769577024	.	.	.	.	.	.	5.621e-05	0	.	0.00434783	.	.	.	.	.	.	.	.	-2.619	-1.261	.	.	AC=14;AN=22;BQB=0.0351359;DP4=335,126,272,2;DP=932;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.01705;MQSB=0.0019682;RPB=0.00837283;SF=1,2,3,8,9,14,15,18,20,21,22;SGB=-0.69311;VDB=0.0220724	GT:DP:DV:PL	.	0/1:110:31:87,0,255	0/1:115:30:70,0,255	0/1:67:21:118,0,255	.	.	.	.	0/1:75:17:67,0,255	0/1:54:12:80,0,255	.	.	.	.	1/1:13:13:173,39,0	0/1:79:33:144,0,255	.	.	1/1:23:23:192,69,0	.	1/1:55:55:199,166,0	0/1:109:30:92,0,255	0/1:35:9:62,0,255	.	.	G	A	3	8	.	.	.	.		.	.	.	.	.	.	REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	14	20216352	rs200923273	G	A	190.5	PASS	OR4Q3	olfactory receptor, family 4, subfamily Q, member 3	exonic	NM_172194	.	missense SNV	OR4Q3:NM_172194:exon1:c.G766A:p.V256I	ENST00000331723.1	.	14q11.2	.	.	.	Score=0.952317;Name=chr15:22292725	.	rs200923273	.	.	0.0149502	0.0159	0.00339457	.	0.0011	0.0140	0.00918837506891	0.0149502	1.0,T	0.075,B	0.078,B	1,N	0.052865,N	-1.89,N	1.35,T	4.5713	0.144	-0.031	.	.	AC=2;AN=4;BQB=0.270269;DP4=64,55,9,37;DP=222;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.762434;SF=11,20;SGB=-0.692352;VDB=0.0363857	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:66:21:250,0,255	.	.	.	.	.	.	.	.	0/1:99:25:200,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	14	20389628	rs151012539	C	T	221.2	PASS	OR4K5	olfactory receptor, family 4, subfamily K, member 5	exonic	NM_001005483	.	missense SNV	OR4K5:NM_001005483:exon1:c.C863T:p.T288I	ENST00000315915.4	.	14q11.2	.	.	.	.	.	rs151012539	.	.	0.0265781	0.0258	0.00539137	.	0.0026	0.0295	0.0214395468606	0.0228365639423	0.009,D	0.221,B	0.4,B	1,N	0.000157,D	1.935,L	1.27,T	10.8572	2.210	0.287	2.293416,18.12	3.33	AC=5;AN=10;BQB=0.992055;DP4=147,131,70,58;DP=534;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.332421;SF=4,11,15,18,20;SGB=-0.692976;VDB=0.19023	GT:DP:DV:PL	.	.	.	.	0/1:89:26:255,0,255	.	.	.	.	.	.	0/1:61:15:255,0,255	.	.	.	0/1:71:20:255,0,255	.	.	0/1:101:25:255,0,255	.	0/1:84:42:255,0,255	.	.	.	.	C	T	0	5	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
M	14	20528309	rs150605467	G	A	225	PASS	OR4L1	olfactory receptor, family 4, subfamily L, member 1	exonic	NM_001004717	.	missense SNV	OR4L1:NM_001004717:exon1:c.G106A:p.G36S	ENST00000315683.1	.	14q11.2	.	.	.	.	.	rs150605467	.	.	0.0182724	0.0179	0.00359425	0.0002	0.0014	0.0168	0.0114854411026	0.0168269108173	0.14,T	0.002,B	0.001,B	1,N	0.993869,N	-0.05,N	5.0,T	7.7846	-0.793	-3.259	.	.	AC=3;AN=4;BQB=0.899334;DP4=9,4,33,13;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.956162;SF=11,20;SGB=-0.688148;VDB=0.353835	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:28:15:255,0,255	.	.	.	.	.	.	.	.	1/1:31:31:255,93,0	.	.	.	.	G	A	1	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	14	21109507	rs143419308	A	G	222	PASS	OR6S1	olfactory receptor, family 6, subfamily S, member 1	exonic	NM_001001968	.	missense SNV	OR6S1:NM_001001968:exon1:c.T344C:p.L115S	ENST00000320704.3	.	14q11.2	.	.	.	.	.	rs143419308	.	.	0.0149502	0.0129	0.00259585	.	0.0007	0.0098	0.00995407479326	0.0132211777644	0.006,D	0.334,B	0.781,P	1,N	0.002138,N	0.985,L	3.97,T	13.3423	2.101	1.614	4.730733,24.6	5.22	AC=1;AN=2;BQB=0.954746;DP4=9,8,15,13;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.34877;SF=20;SGB=-0.693054;VDB=0.0598014	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:28:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	14	21464746	.	G	A	87	PASS	METTL17	methyltransferase like 17	exonic	NM_001029991,NM_022734	.	missense SNV	METTL17:NM_001029991:exon13:c.G1141A:p.E381K,METTL17:NM_022734:exon13:c.G1141A:p.E381K	ENST00000557335.1,ENST00000556670.2,ENST00000339374.6,ENST00000382985.4	.	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225,T	0.007,B	0.01,B	1,N	0.014513,N	0.695,N	1.58,T	8.5933	0.545	1.722	1.954315,15.92	3.26	AC=1;AN=2;BQB=0.675694;DP4=14,5,9,0;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.916295;SF=20;SGB=-0.662043;VDB=0.160384	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:9:121,0,255	.	.	.	.	G	A	0	1	Methyltransferase-like 17	.	.	.	24137763	.	.	.	.	.	.	.	PM2
L	14	23248076	.	C	T	222	PASS	SLC7A7	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	exonic	NM_001126105,NM_001126106	.	synonymous SNV	SLC7A7:NM_001126105:exon5:c.G696A:p.L232L,SLC7A7:NM_001126106:exon5:c.G696A:p.L232L	ENST00000554061.1,ENST00000555702.1,ENST00000397528.4,ENST00000554517.1,ENST00000285850.7,ENST00000397532.3,ENST00000397529.2	.	14q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.644	-0.504	1.912350,15.66	3.58	AC=1;AN=2;BQB=0.992453;DP4=5,6,6,6;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.541379;SF=20;SGB=-0.680642;VDB=0.441618	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:255,0,255	.	.	.	.	C	T	0	1	Lysinuric protein intolerance, 222700 (3)	.	.	.	18716612|17764084|17196863|12402335|10737982|10655553|10631139|10080183|10080182|9829974	ESTABLISHMENT_OF_LOCALIZATION;MACROMOLECULAR_COMPLEX_ASSEMBLY;CARBOXYLIC_ACID_METABOLIC_PROCESS;AMINO_ACID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;AMINO_ACID_AND_DERIVATIVE_METABOLIC_PROCESS;TRANSPORT;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_BASIGIN_INTERACTIONS;REACTOME_AMINO_ACID_TRANSPORT_ACROSS_THE_PLASMA_MEMBRANE;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_INORGANIC_CATIONS_ANIONS_AND_AMINO_ACIDS_OLIGOPEPTIDES;REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS;REACTOME_HEMOSTASIS	PM2
L	14	23548783	rs78164858	A	T	159.5	PASS	ACIN1	apoptotic chromatin condensation inducer 1	exonic	NM_001164814,NM_001164815,NM_014977	.	synonymous SNV	ACIN1:NM_001164815:exon5:c.T1815A:p.S605S,ACIN1:NM_001164814:exon6:c.T1935A:p.S645S,ACIN1:NM_014977:exon6:c.T1935A:p.S645S	ENST00000457657.1,ENST00000262710.1,ENST00000555053.1,ENST00000605057.1	.	14q11.2	.	.	.	.	.	rs78164858	.	.	.	.	.	.	0.0001	0.0005	.	.	.	.	.	.	.	.	.	.	-1.386	-2.110	.	.	AC=2;AN=4;BQB=0.993925;DP4=72,26,25,10;DP=181;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=2.41989e-07;SF=7,20;SGB=-0.683931;VDB=4.64577e-08	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:63:13:133,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:70:22:255,0,255	.	.	.	.	A	T	0	2	Acinus	.	.	.	10490026|9734811	REGULATION_OF_BIOLOGICAL_QUALITY;POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;SIGNAL_TRANSDUCTION;PROGRAMMED_CELL_DEATH;HEMOPOIESIS;APOPTOTIC_NUCLEAR_CHANGES;IMMUNE_SYSTEM_DEVELOPMENT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NUCLEAR_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MYELOID_CELL_DIFFERENTIATION;LEUKOCYTE_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_MYELOID_CELL_DIFFERENTIATION;MYELOID_LEUKOCYTE_DIFFERENTIATION;REGULATION_OF_CELL_DIFFERENTIATION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;HEMOPOIETIC_OR_LYMPHOID_ORGAN_DEVELOPMENT;HOMEOSTASIS_OF_NUMBER_OF_CELLS;HOMEOSTATIC_PROCESS;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;APOPTOTIC_PROGRAM;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;DNA_PACKAGING;ORGAN_DEVELOPMENT;INTRACELLULAR_SIGNALING_CASCADE;APOPTOSIS_GO;CHROMOSOME_CONDENSATION	NUCLEUS	.	KEGG_SPLICEOSOME	.	.	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	
L	14	24459387	rs201206047	A	G	222	PASS	DHRS4L2	dehydrogenase/reductase (SDR family) member 4 like 2	splicing	NM_001193635,NM_001193636,NM_001193637,NM_198083	NM_001193635:exon4:c.45-4A>G;NM_198083:exon2:c.129-4A>G	.	.	ENST00000537912.1,ENST00000397071.1,ENST00000534993.1,ENST00000335125.6,ENST00000545240.1,ENST00000543805.1,ENST00000558753.1,ENST00000382755.4	.	14q11.2	.	.	.	Score=0.970549;Name=chr14:24421111	.	rs201206047	.	.	0.0199336	0.0258	0.00519169	0.0005	0.0021	0.0276	0.0214395454824	0.0168269551683	.	.	.	.	.	.	.	.	-1.185	-2.820	.	.	AC=4;AN=8;BQB=0.983598;DP4=256,98,226,102;DP=947;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=1;MQSB=1;RPB=0.886701;SF=2,5,20,24;SGB=-0.693147;VDB=0.00867118	GT:DP:DV:PL	.	.	0/1:168:66:255,0,255	.	.	0/1:193:96:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:158:80:255,0,255	.	.	.	0/1:163:86:255,0,255	A	G	0	4	Short-chain dehydrogenase/reductase family, member 4-like 2	.	.	.	23036705|18754758	.	.	.	KEGG_RETINOL_METABOLISM	.	.	.	
H	14	25043567	rs752443546	G	A	222	PASS	CTSG	cathepsin G	exonic	NM_001911	.	stopgain	CTSG:NM_001911:exon4:c.C478T:p.R160X	ENST00000216336.2	.	14q12	.	.	.	.	.	rs752443546	.	.	.	.	.	.	8.258e-06	0.0001	.	.	.	.	.	1,A	0.916966,N	.	.	14.8308	2.780	3.788	11.767308,38	5.14	AC=1;AN=2;BQB=0.574636;DP4=35,6,30,21;DP=134;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.619869;SF=20;SGB=-0.693147;VDB=0.174748	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:92:51:255,0,255	.	.	.	.	G	A	0	1	Cathepsin G	.	.	.	20940421|19648270|11907569|11907564|10768957|10714686|9585238|8515885|8453108|8090757|3304423|2569462	IMMUNE_RESPONSE;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	SERINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;SERINE_HYDROLASE_ACTIVITY;PEPTIDASE_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_LYSOSOME;KEGG_RENIN_ANGIOTENSIN_SYSTEM;KEGG_SYSTEMIC_LUPUS_ERYTHEMATOSUS	PID_UPA_UPAR_PATHWAY	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS	
L	14	38091929	rs148328469	G	A	222	PASS	TTC6	tetratricopeptide repeat domain 6	exonic	NM_001310135	.	synonymous SNV	TTC6:NM_001310135:exon3:c.G708A:p.G236G	ENST00000553443.1	CpG: 77	14q21.1	.	.	.	.	.	rs148328469	.	.	0.00166113	0.002	0.000399361	.	.	.	.	0.00166113	.	.	.	.	.	.	.	.	0.436	0.577	.	.	AC=1;AN=2;BQB=0.978744;DP4=7,8,10,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.140605;SF=20;SGB=-0.683931;VDB=0.92	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:13:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	14	39796144	rs145828781	C	G	222	PASS	CTAGE5	CTAGE family, member 5	exonic	NM_001247988,NM_001247989,NM_001247990,NM_005930,NM_203354,NM_203355,NM_203356	.	synonymous SNV	CTAGE5:NM_001247988:exon19:c.C1533G:p.T511T,CTAGE5:NM_203355:exon19:c.C1620G:p.T540T,CTAGE5:NM_001247989:exon20:c.C1764G:p.T588T,CTAGE5:NM_001247990:exon20:c.C1524G:p.T508T,CTAGE5:NM_005930:exon20:c.C1749G:p.T583T,CTAGE5:NM_203354:exon20:c.C1713G:p.T571T,CTAGE5:NM_203356:exon20:c.C1662G:p.T554T	ENST00000553728.1,ENST00000280083.3,ENST00000553352.1,ENST00000396158.2,ENST00000348007.3,ENST00000556148.1,ENST00000603904.1,ENST00000557038.1,ENST00000341502.5,ENST00000396165.4,ENST00000341749.3	.	14q21.1	.	.	Score=828;Name=V$MEIS1AHOXA9_01	.	.	rs145828781	.	.	0.00332226	0.003	0.000599042	.	0.0004	0.0058	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-0.102	0.340	.	.	AC=1;AN=2;BQB=0.952396;DP4=22,5,16,3;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.678231;SF=20;SGB=-0.69168;VDB=0.0600958	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:19:255,0,255	.	.	.	.	C	G	0	1	Meningioma-expressed antigen 6	.	.	.	12839582|9356211	.	.	ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	.	
H	14	45400736	rs80059988	C	T	199.86	PASS	KLHL28	kelch-like family member 28	exonic	NM_001308112,NM_017658	.	missense SNV	KLHL28:NM_001308112:exon4:c.G1394A:p.R465H,KLHL28:NM_017658:exon4:c.G1352A:p.R451H	ENST00000396128.4,ENST00000355081.2	.	14q21.2	.	.	Score=834;Name=V$PAX3_01	.	.	rs80059988	.	.	0.0431894	0.0417	0.00838658	7.7e-05	0.0027	0.0330	0.0352220713629	0.0360577137019	0.073,T	0.999,D	1.0,D	1,D	0.000000,D	2.01,M	-1.47,T	17.6314	2.321	7.411	6.514854,31	4.72	AC=7;AN=14;BQB=0.699673;DP4=28,39,30,40;DP=179;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.15118;SF=0,2,6,8,10,20,24;SGB=-0.680642;VDB=0.0729902	GT:DP:DV:PL	0/1:19:12:255,0,210	.	0/1:21:11:238,0,245	.	.	.	0/1:19:7:231,0,255	.	0/1:19:10:255,0,255	.	0/1:14:8:202,0,156	.	.	.	.	.	.	.	.	.	0/1:18:8:194,0,255	.	.	.	0/1:27:14:255,0,255	C	T	0	7	.	.	.	.		.	.	.	.	.	.	.	
H	14	47530661	rs763063537	G	A	222	PASS	MDGA2	MAM domain containing glycosylphosphatidylinositol anchor 2	exonic	NM_001113498,NM_182830	.	missense SNV	MDGA2:NM_001113498:exon7:c.C1109T:p.T370I,MDGA2:NM_182830:exon7:c.C422T:p.T141I	ENST00000439988.3,ENST00000357362.3,ENST00000399232.2,ENST00000426342.1	.	14q21.3	.	.	Score=896;Name=V$FOXD3_01	.	.	rs763063537	.	.	.	.	.	.	8.301e-06	0	.	.	0.021,D	0.507,P	0.589,P	0.999958,D	0.002501,U	1.475,L	-0.31,T	14.2409	2.832	4.359	4.009851,23.6	5.07	AC=1;AN=2;BQB=0.901066;DP4=26,9,19,9;DP=91;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.525587;SF=20;SGB=-0.693054;VDB=0.802265	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:28:255,0,255	.	.	.	.	G	A	0	1	MAM domain-containing glycosylphosphatidylinositol anchor 2	.	.	.	15019943	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	.	.	.	.	.	.	PM2
H	14	51372228	rs760187622	G	A	222	PASS	PYGL	phosphorylase, glycogen, liver	exonic	NM_001163940,NM_002863	.	missense SNV	PYGL:NM_001163940:exon19:c.C2324T:p.S775L,PYGL:NM_002863:exon20:c.C2426T:p.S809L	ENST00000532462.1,ENST00000216392.7,ENST00000544180.2	.	14q22.1	.	.	.	.	.	rs760187622	.	.	.	.	.	.	4.119e-05	0.0001	.	.	0.087,T	0.782,P	0.971,D	1,D	0.001522,N	3.26,M	-3.17,D	15.277	1.534	9.873	5.729768,26.9	5.17	AC=1;AN=2;BQB=0.984928;DP4=13,4,14,5;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998871;SF=20;SGB=-0.69168;VDB=0.715454	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:19:255,0,255	.	.	.	.	G	A	0	1	Glycogen storage disease VI, 232700 (3)	.	.	.	25266922|9536091|9529348|2883891|2877458|2575583|622185	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	BIOCARTA_FEEDER_PATHWAY	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
L	14	51376678	rs35110875	A	G	222	PASS	PYGL	phosphorylase, glycogen, liver	exonic	NM_001163940,NM_002863	.	synonymous SNV	PYGL:NM_001163940:exon16:c.T2010C:p.A670A,PYGL:NM_002863:exon17:c.T2112C:p.A704A	ENST00000532462.1,ENST00000216392.7,ENST00000544180.2	.	14q22.1	.	.	.	.	.	rs35110875	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000175170.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.038206	0.0446	0.0167732	0.0008	0.0104	0.0472	0.0321592545176	0.0384615432692	.	.	.	.	.	.	.	.	-2.375	-1.746	1.163261,11.55	.	AC=3;AN=6;BQB=0.603069;DP4=55,15,58,14;DP=210;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.773426;SF=5,13,20;SGB=-0.692976;VDB=0.0976972	GT:DP:DV:PL	.	.	.	.	.	0/1:47:26:255,0,255	.	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	.	.	.	0/1:58:29:255,0,255	.	.	.	.	A	G	0	3	Glycogen storage disease VI, 232700 (3)	.	.	.	25266922|9536091|9529348|2883891|2877458|2575583|622185	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	.	BIOCARTA_FEEDER_PATHWAY	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	BP6
M	14	55818102	rs139920556	G	A	222	PASS	FBXO34	F-box protein 34	exonic	NM_017943,NM_152231	.	missense SNV	FBXO34:NM_017943:exon2:c.G994A:p.V332I,FBXO34:NM_152231:exon2:c.G994A:p.V332I	ENST00000440021.1,ENST00000313833.4	.	14q22.3	.	.	.	.	.	rs139920556	.	.	0.00664452	0.004	0.00139776	0.0005	0.0010	0.0042	0.00382848226646	0.00664452	0.226,T	0.001,B	0.0,B	1,N	0.268011,N	0,N	2.27,T	3.8056	-1.842	-1.380	.	.	AC=2;AN=4;BQB=0.880715;DP4=35,27,45,27;DP=167;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.523366;SF=16,20;SGB=-0.693144;VDB=0.377399	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:39:255,0,255	.	.	.	0/1:58:33:255,0,255	.	.	.	.	G	A	0	2	F-box only protein 34	.	.	.	15520277	.	.	.	.	.	.	.	
L	14	58678057	rs17832891	G	A	190	PASS	ACTR10	actin-related protein 10 homolog (S. cerevisiae)	exonic	NM_018477	.	synonymous SNV	ACTR10:NM_018477:exon5:c.G390A:p.T130T	ENST00000254286.4	.	14q23.1	.	.	.	.	.	rs17832891	.	.	0.051495	0.0565	0.029353	0.0250	0.0342	0.0480	0.0344563672282	0.0420672944712	.	.	.	.	.	.	.	.	-3.071	-3.141	1.373994,12.65	.	AC=5;AN=10;BQB=0.751254;DP4=29,16,36,17;DP=131;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.970677;SF=7,17,19,20,23;SGB=-0.688148;VDB=0.554146	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:27:15:255,0,255	.	.	.	.	.	.	.	.	.	0/1:13:7:187,0,172	.	0/1:19:11:255,0,210	0/1:21:7:165,0,255	.	.	0/1:18:13:255,0,146	.	G	A	0	5	.	.	.	.		.	.	.	.	.	.	.	
L	14	70925043	.	T	G	222	PASS	ADAM21	ADAM metallopeptidase domain 21	exonic	NM_003813	.	missense SNV	ADAM21:NM_003813:exon2:c.T827G:p.L276R	ENST00000267499.3,ENST00000556646.1,ENST00000603540.1	.	14q24.2	.	.	.	Score=0.937657;Name=chr14:70696492	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.995,D	0.999,D	0.806733,D	0.003491,N	4.045,H	-0.89,T	11.4471	1.896	2.165	4.438289,24.2	4.22	AC=1;AN=2;BQB=0.935725;DP4=9,10,9,4;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.607983;MQSB=0.960228;RPB=0.766643;SF=20;SGB=-0.683931;VDB=0.876027	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:13:255,0,255	.	.	.	.	T	G	0	1	A disintegrin and metalloproteinase domain 21	.	.	.	9469942	REPRODUCTIVE_PROCESS;SEXUAL_REPRODUCTION;REPRODUCTION	.	.	.	.	.	.	PM2
L	14	74036216	rs56069624	A	G	221.5	PASS	ACOT2	acyl-CoA thioesterase 2	exonic	NM_006821	.	missense SNV	ACOT2:NM_006821:exon1:c.A272G:p.E91G	ENST00000238651.5,ENST00000538782.1	CpG: 74	14q24.3	.	.	.	Score=0.950404;Name=chr14:74000098	.	rs56069624	.	.	0.038206	0.0337	0.0355431	0.0154	0.0340	0.0368	0.0237365898928	0.0324519362981	0.525,T	0.004,B	0.0,B	1,N	0.897836,N	-0.495,N	-0.38,T	5.2146	-0.095	-0.982	.	.	AC=2;AN=4;BQB=0.954405;DP4=6,21,14,18;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.377103;MQSB=0.010294;RPB=0.564584;SF=4,20;SGB=-0.686358;VDB=0.659492	GT:DP:DV:PL	.	.	.	.	0/1:29:14:254,0,236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:18:255,0,211	.	.	.	.	A	G	0	2	Acyl-CoA thioesterase 2	.	.	.	16940157|16103133|15007068|10944470	COFACTOR_METABOLIC_PROCESS;COENZYME_METABOLIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	.	KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS	.	.	.	
H	14	89131795	rs373476855	A	C	222	PASS	EML5	echinoderm microtubule associated protein like 5	exonic	NM_183387	.	missense SNV	EML5:NM_183387:exon22:c.T3163G:p.L1055V	ENST00000554922.1,ENST00000352093.5,ENST00000380664.5	.	14q31.3	.	.	.	.	.	rs373476855	.	.	0	0.001	0.000199681	.	0.0004	0.0049	0.00142045	0.00434783	0.125,T	0.53,P	0.949,P	0.998859,D	0.000007,D	1.525,L	0.65,T	10.4511	2.281	1.899	3.515645,23.1	5.41	AC=1;AN=2;BQB=0.981638;DP4=16,5,10,5;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.28326;SF=20;SGB=-0.688148;VDB=0.840371	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:15:255,0,255	.	.	.	.	A	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	14	89305789	rs368220069	G	A	211	PASS	TTC8	tetratricopeptide repeat domain 8	splicing	NM_001288781,NM_001288782,NM_001288783,NM_144596,NM_198309,NM_198310	NM_001288781:exon3:c.115-7G>A;NM_144596:exon4:c.145-7G>A;NM_198309:exon3:c.115-7G>A;NM_198310:exon3:c.115-7G>A	.	.	ENST00000380656.2,ENST00000346301.4,ENST00000345383.5,ENST00000354441.6,ENST00000338104.6,ENST00000536576.1	.	14q31.3	.	.	.	.	.	rs368220069	.	.	.	.	.	.	0.0002	0.0030	0.00142045	.	.	.	.	.	.	.	.	.	1.008	0.437	.	4.57	AC=1;AN=2;BQB=0.603475;DP4=6,0,11,0;DP=24;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.833753;SF=20;SGB=-0.676189;VDB=0.765622	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:11:245,0,130	.	.	.	.	G	A	0	1	Bardet-Biedl syndrome 8, 615985 (3); ?Retinitis pigmentosa 51, 613464 (3)	.	.	.	22072986|20603001|20451172|19081074|17574030|16308660|14520415|10579718	.	.	.	.	.	.	.	
L	14	92454633	rs11851376	C	T	81	PASS	TRIP11	thyroid hormone receptor interactor 11	exonic	NM_004239	.	missense SNV	TRIP11:NM_004239:exon16:c.G5255A:p.R1752K	ENST00000267622.4	.	14q32.12	.	.	.	.	.	rs11851376	.	.	0.0182724	0.0198	0.0463259	0.0289	0.0180	0.0275	0.0182724	0.0182724	1.0,T	0.0,B	0.0,B	0.99964,P	0.000052,N	-1.74,N	3.91,T	9.1363	1.036	2.872	2.040923,16.47	5.8	AC=1;AN=2;BQB=1;DP4=1,0,3,1;DP=6;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.556411;VDB=0.675454	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:5:4:115,0,45	.	.	.	.	C	T	0	1	Achondrogenesis, type IA, 200600 (3)	.	.	.	20089971|18451304|15294158|11463340|10189370|9373237|9256431|8384581|7776974	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
H	14	92454642	rs2273183	T	G	88	PASS	TRIP11	thyroid hormone receptor interactor 11	exonic	NM_004239	.	missense SNV	TRIP11:NM_004239:exon16:c.A5246C:p.E1749A	ENST00000267622.4	.	14q32.12	.	.	.	.	.	rs2273183	.	.	0.0116279	0.0159	0.00698882	0.0009	0.0036	0.0195	0.0116279	0.0116279	0.142,T	0.164,B	0.275,B	0.997223,D	0.001934,N	2.81,M	3.67,T	8.3948	1.033	3.466	3.092597,22.5	3.57	AC=1;AN=2;BQB=0.4;DP4=2,0,4,1;DP=8;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.590765;VDB=0.60592	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:5:121,0,71	.	.	.	.	T	G	0	1	Achondrogenesis, type IA, 200600 (3)	.	.	.	20089971|18451304|15294158|11463340|10189370|9373237|9256431|8384581|7776974	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
L	14	92472304	rs144317897	A	T	222	PASS	TRIP11	thyroid hormone receptor interactor 11	exonic	NM_004239	.	synonymous SNV	TRIP11:NM_004239:exon11:c.T2016A:p.A672A	ENST00000267622.4	.	14q32.12	.	.	.	.	.	rs144317897	.	.	0.00332226	0.002	0.000399361	.	0.0003	0.0037	0.00332226	0.00332226	.	.	.	1,D	.	.	.	1.8972	0.148	0.137	.	2.26	AC=1;AN=2;BQB=0.5067;DP4=12,8,11,8;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983461;SF=20;SGB=-0.69168;VDB=0.554614	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:19:255,0,255	.	.	.	.	A	T	0	1	Achondrogenesis, type IA, 200600 (3)	.	.	.	20089971|18451304|15294158|11463340|10189370|9373237|9256431|8384581|7776974	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	.	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
H	14	93412733	rs554644267	T	C	222	PASS	ITPK1	inositol-tetrakisphosphate 1-kinase	exonic	NM_001142593,NM_001142594,NM_014216	.	missense SNV	ITPK1:NM_001142593:exon10:c.A844G:p.I282V,ITPK1:NM_001142594:exon10:c.A844G:p.I282V,ITPK1:NM_014216:exon10:c.A844G:p.I282V	ENST00000556603.2,ENST00000556954.1,ENST00000267615.6,ENST00000555495.1,ENST00000354313.3	.	14q32.12	.	.	Score=805;Name=V$COMP1_01	.	.	rs554644267	.	.	0	0.001	0.000199681	.	2.488e-05	0.0002	.	.	0.662,T	0.027,B	0.026,B	0.999831,D	0.000046,D	-0.53,N	3.15,T	15.1664	1.988	4.720	.	5.25	AC=1;AN=2;BQB=0.99682;DP4=22,6,14,15;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.262241;SF=20;SGB=-0.693079;VDB=0.328645	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:29:255,0,255	.	.	.	.	T	C	0	1	Inositol 1,3,4-trisphosphate 5/6-kinase	.	.	.	11042108|8662638	SIGNAL_TRANSDUCTION	.	.	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	
M	14	94756750	rs941591	T	G	223.05	PASS	SERPINA10	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	exonic	NM_001100607,NM_016186	.	missense SNV	SERPINA10:NM_001100607:exon2:c.A181C:p.S61R,SERPINA10:NM_016186:exon2:c.A181C:p.S61R	ENST00000554173.1,ENST00000261994.4,ENST00000393096.1,ENST00000554723.1	.	14q32.13	.	.	.	.	.	rs941591	.	.	.	.	.	.	0.0002	0.0023	0.00142045	.	0.478,T	0.004,B	0.216,B	1,P	.	0,N	-1.94,D	6.1543	-2.725	-4.367	.	.	AC=1,28;AN=40;BQB=0.695836;DP4=227,99,517,231;DP=1452;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.88088;SF=0,1,2,3,4,5,6,7,8,9,10,11,14,16,18,19,20,21,22,23;SGB=-0.693021;VDB=0.946721	GT:DP:DV:PL	0/2:52:27:255,.,.,0,.,255	2/2:52:52:255,.,.,157,.,0	1/2:44:44:255,255,255,255,0,255	2/2:50:50:255,.,.,151,.,0	2/2:49:49:255,.,.,148,.,0	0/2:85:41:255,.,.,0,.,255	2/2:40:39:255,.,.,101,.,0	0/2:61:32:255,.,.,0,.,255	2/2:45:45:255,.,.,135,.,0	2/2:33:33:255,.,.,99,.,0	0/2:59:24:255,.,.,0,.,255	0/2:50:30:255,.,.,0,.,255	.	.	0/2:54:30:255,.,.,0,.,255	.	2/2:58:58:255,.,.,175,.,0	.	0/2:48:23:255,.,.,0,.,255	2/2:59:59:255,.,.,178,.,0	0/2:58:25:255,.,.,0,.,255	0/2:72:34:255,.,.,0,.,255	0/2:33:17:255,.,.,0,.,255	0/2:72:36:255,.,.,0,.,255	.	T	G,C	8	12	Serine (or cysteine) proteinase inhibitor, clade A, member 10 (protein Z-dependent protease inhibitor precursor)	.	.	.	15461625|10829076|10460162|9689066	.	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	
H	14	94776284	rs370762935	C	T	222	PASS	SERPINA6	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	exonic	NM_001756	.	missense SNV	SERPINA6:NM_001756:exon3:c.G673A:p.E225K	ENST00000341584.3	.	14q32.13	.	.	.	.	.	rs370762935	.	.	0	0.001	0.000199681	7.7e-05	4.124e-05	0.0002	.	.	0.776,T	0.043,B	0.147,B	0.999953,N	0.105581,N	0.38,N	-2.24,D	12.1105	1.491	0.279	1.257328,12.05	3.48	AC=1;AN=2;BQB=0.945766;DP4=11,17,19,12;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.779496;SF=20;SGB=-0.69311;VDB=0.25093	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:31:255,0,255	.	.	.	.	C	T	0	1	Corticosteroid-binding globulin deficiency, 611489 (3)	.	.	.	17245537|12780753|11502797|10634411|9383284|8212073|7912884|7061486|3299377|2608068|2253941	.	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	
L	14	95899669	rs140803384	C	T	222	PASS	SYNE3	spectrin repeat containing, nuclear envelope family member 3	exonic	NM_152592	.	synonymous SNV	SYNE3:NM_152592:exon15:c.G2616A:p.S872S	ENST00000554873.1,ENST00000557275.1,ENST00000334258.5	.	14q32.13	.	.	.	.	.	rs140803384	.	.	0.00166113	0.002	0.00159744	0.0005	0.0010	0.0016	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-1.582	-4.563	1.445446,13.03	.	AC=1;AN=2;BQB=0.59791;DP4=36,13,25,20;DP=128;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.668839;SF=20;SGB=-0.693147;VDB=0.0167866	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:94:45:255,0,255	.	.	.	.	C	T	0	1	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3)	.	.	.	16330710	.	.	.	.	.	.	.	
L	14	95916397	rs149713915	C	T	222	PASS	SYNE3	spectrin repeat containing, nuclear envelope family member 3	exonic	NM_152592	.	synonymous SNV	SYNE3:NM_152592:exon7:c.G1320A:p.E440E	ENST00000554873.1,ENST00000553340.1,ENST00000557275.1,ENST00000334258.5	.	14q32.13	.	.	Score=811;Name=V$RFX1_02	.	.	rs149713915	.	.	0.00996678	0.0079	0.00279553	0.0017	0.0054	0.0033	0.00535987623277	0.00996678	.	.	.	.	.	.	.	.	2.385	0.251	1.391069,12.74	3.22	AC=1;AN=2;BQB=0.739772;DP4=9,5,7,6;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.41049;SF=20;SGB=-0.683931;VDB=0.46743	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	C	T	0	1	Spectrin repeat-containing nuclear envelope protein 3 (nesprin 3)	.	.	.	16330710	.	.	.	.	.	.	.	
L	14	96768425	rs117481952	G	A	206.67	PASS	ATG2B	autophagy related 2B	exonic	NM_018036	.	synonymous SNV	ATG2B:NM_018036:exon34:c.C5058T:p.H1686H	ENST00000359933.4,ENST00000261834.5	.	14q32.2	.	.	.	.	.	rs117481952	.	.	0.051495	0.0506	0.0225639	0.0005	0.0118	0.0460	0.0382848119449	0.0492788449519	.	.	.	.	.	.	.	.	-2.573	-0.885	.	.	AC=3;AN=6;BQB=0.869503;DP4=25,24,14,16;DP=110;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996936;SF=16,20,24;SGB=-0.670168;VDB=0.635404	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:10:232,0,255	.	.	.	0/1:20:9:233,0,255	.	.	.	0/1:26:11:255,0,255	G	A	0	3	Autophagy 2, S. cerevisiae, homolog of, B	.	.	.	25356988|22219374|19197948	.	.	.	.	.	.	.	
L	14	96769601	rs149087645	G	A	222	PASS	ATG2B	autophagy related 2B	splicing	NM_018036	NM_018036:exon33:c.4843-9C>T	.	.	ENST00000359933.4,ENST00000261834.5	.	14q32.2	.	.	.	.	.	rs149087645	.	.	0.0531561	0.0526	0.0251597	0.0005	0.0132	0.0484	0.0367534390505	0.0504807466346	.	.	.	.	.	.	.	.	-0.162	-0.018	.	.	AC=3;AN=6;BQB=0.922787;DP4=25,38,26,33;DP=169;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.682136;SF=16,20,24;SGB=-0.692352;VDB=0.104089	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:21:255,0,255	.	.	.	0/1:39:21:255,0,255	.	.	.	0/1:40:17:255,0,255	G	A	0	3	Autophagy 2, S. cerevisiae, homolog of, B	.	.	.	25356988|22219374|19197948	.	.	.	.	.	.	.	
L	14	96773164	rs143695335	A	G	221.33	PASS	ATG2B	autophagy related 2B	exonic	NM_018036	.	missense SNV	ATG2B:NM_018036:exon30:c.T4393C:p.S1465P	ENST00000359933.4,ENST00000261834.5	.	14q32.2	.	.	.	.	.	rs143695335	.	.	0.0531561	0.0526	0.0253594	0.0005	0.0132	0.0484	0.0390504950995	0.0504807466346	0.43,T	0.0,B	0.0,B	1,N	0.024030,N	0.165,N	2.86,T	5.8577	-0.163	0.823	.	.	AC=3;AN=6;BQB=0.923116;DP4=30,17,37,9;DP=130;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.889758;SF=16,20,24;SGB=-0.692067;VDB=0.543357	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:20:255,0,255	.	.	.	0/1:29:12:255,0,255	.	.	.	0/1:29:14:253,0,255	A	G	0	3	Autophagy 2, S. cerevisiae, homolog of, B	.	.	.	25356988|22219374|19197948	.	.	.	.	.	.	.	
H	14	97029174	.	A	C	222	PASS	PAPOLA	poly(A) polymerase alpha	exonic	NM_001293627,NM_001293628,NM_001293632,NM_032632	.	missense SNV	PAPOLA:NM_001293632:exon19:c.A1336C:p.T446P,PAPOLA:NM_001293627:exon21:c.A2083C:p.T695P,PAPOLA:NM_001293628:exon21:c.A1336C:p.T446P,PAPOLA:NM_032632:exon21:c.A2086C:p.T696P	ENST00000392990.2,ENST00000216277.8	.	14q32.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042,D	0.178,B	0.392,B	0.839221,D	0.009665,N	1.245,L	.	9.6209	2.273	1.390	2.563322,19.87	5.93	AC=1;AN=2;BQB=0.865847;DP4=12,0,11,4;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.92664;SF=20;SGB=-0.688148;VDB=0.460047	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:15:255,0,216	.	.	.	.	A	C	0	1	Poly(A) polymerase	.	.	.	10429366|8302877	.	CYTOPLASM;NUCLEUS	.	KEGG_RNA_DEGRADATION	.	.	REACTOME_PROCESSING_OF_INTRONLESS_PRE_MRNAS;REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_MRNA_SPLICING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_MRNA_3_END_PROCESSING;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	PM2
L	14	104199036	rs114770841	A	G	222	PASS	ZFYVE21	zinc finger, FYVE domain containing 21	exonic	NM_001198953,NM_024071	.	synonymous SNV	ZFYVE21:NM_024071:exon6:c.A606G:p.T202T,ZFYVE21:NM_001198953:exon7:c.A660G:p.T220T	ENST00000311141.2,ENST00000216602.6	.	14q32.33	.	.	.	.	.	rs114770841	.	.	0.0265781	0.0218	0.00539137	7.7e-05	0.0020	0.0228	0.0160796433997	0.0276442550481	.	.	.	.	.	.	.	.	-0.958	-0.904	.	.	AC=5;AN=10;BQB=0.994513;DP4=115,61,86,57;DP=467;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.660386;SF=0,7,17,20,23;SGB=-0.693136;VDB=0.0304335	GT:DP:DV:PL	0/1:73:35:255,0,255	.	.	.	.	.	.	0/1:64:26:255,0,255	.	.	.	.	.	.	.	.	.	0/1:46:24:255,0,255	.	.	0/1:68:31:255,0,255	.	.	0/1:68:27:255,0,255	.	A	G	0	5	Zinc finger FYVE domain-containing protein 21	.	.	.	20439989	.	.	.	.	.	.	.	
L	14	104206854	rs3742368	C	T	221.8	PASS	PPP1R13B	protein phosphatase 1, regulatory subunit 13B	exonic	NM_015316	.	synonymous SNV	PPP1R13B:NM_015316:exon12:c.G1899A:p.T633T	ENST00000423488.2,ENST00000202556.9,ENST00000555391.1	.	14q32.33	.	.	Score=797;Name=V$ER_Q6	.	.	rs3742368	.	.	0.0265781	0.0218	0.00599042	8e-05	0.0024	0.0242	0.0153139490658	0.0276442550481	.	.	.	.	.	.	.	.	-1.875	-1.181	1.412694,12.85	.	AC=5;AN=10;BQB=0.677332;DP4=106,64,90,64;DP=445;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993671;SF=0,7,17,20,23;SGB=-0.691153;VDB=0.0141163	GT:DP:DV:PL	0/1:53:18:255,0,255	.	.	.	.	.	.	0/1:79:41:255,0,255	.	.	.	.	.	.	.	.	.	0/1:50:25:255,0,255	.	.	0/1:77:37:255,0,255	.	.	0/1:65:33:255,0,255	.	C	T	0	5	.	.	.	.		CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELL_CYCLE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELL_CYCLE_GO_0007049;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_CELL_CYCLE;APOPTOSIS_GO	CYTOPLASM;NUCLEUS	.	.	PID_P53DOWNSTREAMPATHWAY	.	.	
L	14	104506649	rs2273841	T	G	222	PASS	TDRD9	tudor domain containing 9	exonic	NM_153046	.	missense SNV	TDRD9:NM_153046:exon33:c.T3833G:p.F1278C	ENST00000339063.5,ENST00000409874.4	.	14q32.33	.	.	.	.	.	rs2273841	.	.	0.0199336	0.0278	0.0101837	.	0.0060	0.0273	0.0284091	0.0300480987981	0.007,D	0.599,P	0.992,D	1,D	.	2.36,M	3.84,T	14.1212	1.983	6.319	4.315346,24.0	5.24	AC=3;AN=6;BQB=0.893938;DP4=37,24,29,26;DP=169;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.10734;SF=11,14,20;SGB=-0.686358;VDB=0.0867673	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:33:14:255,0,255	.	.	0/1:42:22:255,0,255	.	.	.	.	.	0/1:41:19:255,0,255	.	.	.	.	T	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	14	104618378	rs780500407	C	T	221	PASS	KIF26A	kinesin family member 26A	exonic	NM_015656	.	synonymous SNV	KIF26A:NM_015656:exon3:c.C315T:p.L105L	ENST00000423312.2,ENST00000315264.7	.	14q32.33	.	.	.	.	.	rs780500407	.	.	.	.	.	.	4.386e-05	0	.	.	.	.	.	.	.	.	.	.	-3.666	-0.582	1.054262,10.97	.	AC=1;AN=2;BQB=0.995255;DP4=12,5,27,8;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979242;SF=20;SGB=-0.693136;VDB=0.412528	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:35:255,0,255	.	.	.	.	C	T	0	1	Kinesin family member 26A	.	.	.	19914172|10574462	.	.	.	.	.	.	REACTOME_MHC_CLASS_II_ANTIGEN_PRESENTATION;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_KINESINS;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PM2
H	14	105349504	rs187049858	C	T	222	PASS	CEP170B	centrosomal protein 170B	exonic	NM_001112726,NM_015005	.	missense SNV	CEP170B:NM_015005:exon7:c.C500T:p.S167L,CEP170B:NM_001112726:exon8:c.C710T:p.S237L	ENST00000418279.1,ENST00000556508.1,ENST00000414716.3,ENST00000453495.1	.	14q32.33	.	.	Score=812;Name=V$OLF1_01	.	.	rs187049858	.	.	0.0299003	0.0228	0.00459265	0.0002	0.0030	0.0375	0.027565079173	0.0288461425481	0.043,D	0.054,B	0.688,P	1,N	0.900859,U	1.83,L	2.11,T	6.3645	-0.114	0.966	.	.	AC=2;AN=4;BQB=0.852808;DP4=80,16,86,27;DP=273;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.487056;SF=13,20;SGB=-0.693147;VDB=0.75478	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:120:61:255,0,255	.	.	.	.	.	.	0/1:89:52:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	14	105350602	rs771647102	C	T	222	PASS	CEP170B	centrosomal protein 170B	exonic	NM_001112726,NM_015005	.	missense SNV	CEP170B:NM_015005:exon8:c.C1276T:p.R426C,CEP170B:NM_001112726:exon9:c.C1486T:p.R496C	ENST00000418279.1,ENST00000556508.1,ENST00000414716.3,ENST00000453495.1	CpG: 64	14q32.33	.	.	Score=846;Name=V$PAX4_01	.	.	rs771647102	.	.	.	.	.	.	0.0002	0.0052	.	0.00434783	0.001,D	0.978,D	1.0,D	1,D	0.286113,N	2.43,M	0.7,T	10.7152	1.813	4.032	5.784680,27.1	3.06	AC=1;AN=2;BQB=0.541994;DP4=11,4,7,9;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.159184;SF=20;SGB=-0.689466;VDB=0.485546	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:16:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	14	105415731	rs139340205	C	T	221.5	PASS	AHNAK2	AHNAK nucleoprotein 2	exonic	NM_138420	.	synonymous SNV	AHNAK2:NM_138420:exon7:c.G6057A:p.E2019E	ENST00000557457.1,ENST00000333244.5	.	14q32.33	.	.	.	Score=0.912926;Name=chr14:105409407	.	rs139340205	.	.	0.038206	0.0308	0.00898562	.	0.0040	0.0375	0.0344563644717	0.0372596274038	.	.	.	.	.	.	.	.	0.118	-6.088	.	.	AC=2;AN=4;BQB=0.124416;DP4=143,36,185,122;DP=672;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.363176;MQSB=0.841453;RPB=2.11765e-08;SF=13,20;SGB=-0.693147;VDB=0.522577	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:231:164:255,0,213	.	.	.	.	.	.	0/1:255:143:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	14	105416253	rs199771853	C	T	222	PASS	AHNAK2	AHNAK nucleoprotein 2	exonic	NM_138420	.	synonymous SNV	AHNAK2:NM_138420:exon7:c.G5535A:p.S1845S	ENST00000557457.1,ENST00000333244.5	.	14q32.33	.	.	.	Score=0.912926;Name=chr14:105409407	.	rs199771853	.	.	0.0282392	0.0248	0.00678914	.	0.0033	0.0324	0.0282392	0.0300480725962	.	.	.	.	.	.	.	.	-3.715	-7.966	1.159248,11.53	.	AC=2;AN=4;BQB=0.0444409;DP4=233,108,202,105;DP=882;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0938064;MQSB=0.92867;RPB=0.991131;SF=13,20;SGB=-0.693147;VDB=0.955425	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:371:172:255,0,255	.	.	.	.	.	.	0/1:277:135:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	15	23685920	rs200451908	A	C	104.17	PASS	GOLGA6L2	golgin A6 family-like 2	exonic	NM_001304388	.	missense SNV	GOLGA6L2:NM_001304388:exon8:c.T1702G:p.S568A	ENST00000312015.5,ENST00000567107.1,ENST00000345070.5	.	15q11.2	.	.	.	Score=0.901999;Name=chr15:29086391	.	rs200451908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.478	.	.	AC=8;AN=16;BQB=0.0293721;DP4=711,110,90,97;DP=1602;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.835448;MQSB=0.664191;RPB=8.62252e-05;SF=6,7,13,14,19,20,23,24;SGB=-0.688148;VDB=5.95936e-05	GT:DP:DV:PL	.	.	.	.	.	.	0/1:108:15:72,0,255	0/1:98:13:57,0,255	.	.	.	.	.	0/1:98:14:110,0,255	0/1:102:24:255,0,255	.	.	.	.	0/1:93:16:94,0,255	0/1:103:17:101,0,255	.	.	0/1:201:47:255,0,255	0/1:205:41:176,0,255	A	C	0	8	.	.	.	.		.	.	.	.	.	.	.	PM2
L	15	23685922	rs377626801	C	T	122.8	PASS	GOLGA6L2	golgin A6 family-like 2	exonic	NM_001304388	.	missense SNV	GOLGA6L2:NM_001304388:exon8:c.G1700A:p.G567E	ENST00000312015.5,ENST00000567107.1,ENST00000345070.5	.	15q11.2	.	.	.	Score=0.901999;Name=chr15:29086391	.	rs377626801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.113	1.851175,15.29	.	AC=5;AN=10;BQB=0.00790016;DP4=505,81,66,72;DP=1160;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.705545;MQSB=0.505577;RPB=3.73038e-05;SF=6,14,20,23,24;SGB=-0.690438;VDB=8.75296e-06	GT:DP:DV:PL	.	.	.	.	.	.	0/1:111:17:91,0,255	.	.	.	.	.	.	.	0/1:102:21:225,0,255	.	.	.	.	.	0/1:107:16:88,0,255	.	.	0/1:201:44:229,0,255	0/1:203:40:160,0,255	C	T	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
H	15	23890252	rs764155137	G	A	222	PASS	MAGEL2	melanoma antigen family L2	exonic	NM_019066	.	missense SNV	MAGEL2:NM_019066:exon1:c.C2638T:p.R880C	ENST00000532292.1	.	15q11.2	.	.	Score=770;Name=V$PAX5_02	.	.	rs764155137	.	.	.	.	.	.	5.817e-05	0.0003	.	.	.	.	.	.	.	.	.	.	1.298	1.741	4.718324,24.6	3.27	AC=1;AN=2;BQB=0.3844;DP4=36,27,28,25;DP=158;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983414;SF=20;SGB=-0.693147;VDB=0.0382768	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:116:53:255,0,255	.	.	.	.	G	A	0	1	Schaaf-Yang syndrome, 615547 (3)	.	.	.	25473036|25231870|24076603|17893678|15649943|10915770|10556298	.	.	.	.	.	.	.	
H	15	28437229	rs184647895	T	C	222	PASS	HERC2	HECT and RLD domain containing E3 ubiquitin protein ligase 2	exonic	NM_004667	.	missense SNV	HERC2:NM_004667:exon53:c.A8329G:p.M2777V	ENST00000261609.7	.	15q13.1	.	.	.	.	.	rs184647895	.	.	.	.	.	.	0.0002	0.0032	0.00142045	0.00869565	0.602,T	0.011,B	0.012,B	0.999622,D	0.005498,N	0.55,N	0.02,T	10.1854	0.456	3.289	0.981341,10.55	3.18	AC=1;AN=2;BQB=0.70999;DP4=17,10,20,14;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.943445;SF=20;SGB=-0.693132;VDB=0.475561	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:34:255,0,255	.	.	.	.	T	C	0	1	[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3); Mental retardation, autosomal recessive 38, 615516 (3)	.	.	.	23243086|23065719|22234890|22065085|21493713|20631078|20023648|18252222|18252221|18172690|17952075|17236130|9949213|9689098|9205841|1495987	.	.	.	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	
L	15	28949049	rs112423589	A	C	66.36	PASS	GOLGA8M	golgin A8 family, member M	exonic	NM_001282468	.	synonymous SNV	GOLGA8M:NM_001282468:exon14:c.T1215G:p.A405A	ENST00000563027.1	.	15q13.1	.	.	.	Score=0.992109;Name=chr15:23248746	.	rs112423589	.	.	.	.	.	.	0.0116	0.0175	.	0.0652174	.	.	.	.	.	.	.	.	-0.186	-0.046	.	.	AC=8;AN=16;BQB=0.0262435;DP4=193,95,79,30;DP=524;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=0.00116077;MQSB=0.0166028;RPB=0.0784117;SF=7,9,10,15,17,18,20,24;SGB=-0.690438;VDB=0.147249	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:62:17:111,0,255	.	0/1:42:8:65,0,255	0/1:49:10:67,0,255	.	.	.	.	0/1:36:12:110,0,255	.	0/1:38:10:84,0,255	0/1:51:17:184,0,255	.	0/1:51:13:64,0,255	.	.	.	0/1:68:22:125,0,255	A	C	0	8	.	.	.	.		.	.	.	.	.	.	.	
L	15	30382038	rs201162778	A	G	79.32	PASS	GOLGA8J	golgin A8 family, member J	exonic	NM_001282472	.	missense SNV	GOLGA8J:NM_001282472:exon12:c.A1010G:p.Q337R	ENST00000567927.1,ENST00000341650.6	.	15q13.2	.	.	.	Score=0.995648;Name=chr15:32445406	.	rs201162778	.	.	0.0116279	0.0208	0.00878594	.	.	.	.	0.0116279	0.943,T	.	.	0.999918,N	.	-0.11,N	1.95,T	7.7086	-1.160	-0.216	.	.	AC=17;AN=34;BQB=0.627481;DP4=378,400,12,357;DP=1352;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.00237025;MQSB=0.067531;RPB=0.686411;SF=1,2,3,5,7,8,9,11,13,14,15,16,17,19,20,22,23;SGB=-0.692717;VDB=0.00695195	GT:DP:DV:PL	.	0/1:64:23:122,0,255	0/1:57:17:110,0,255	0/1:62:14:68,0,255	.	0/1:74:37:150,0,255	.	0/1:78:18:93,0,255	0/1:71:18:96,0,255	0/1:57:16:97,0,255	.	0/1:72:20:99,0,255	.	0/1:86:24:92,0,255	0/1:27:9:102,0,255	0/1:37:25:155,0,141	0/1:90:35:157,0,255	0/1:63:17:126,0,255	.	0/1:80:25:132,0,255	0/1:86:23:75,0,255	.	0/1:46:15:125,0,255	0/1:97:33:127,0,255	.	A	G	0	17	.	.	.	.		.	.	.	.	.	.	.	
L	15	30382040	rs199651552	C	G	69	PASS	GOLGA8J	golgin A8 family, member J	exonic	NM_001282472	.	missense SNV	GOLGA8J:NM_001282472:exon12:c.C1012G:p.R338G	ENST00000567927.1,ENST00000341650.6	.	15q13.2	.	.	.	Score=0.995648;Name=chr15:32445406	.	rs199651552	.	.	0.0116279	0.0208	0.00878594	.	.	.	.	0.0116279	0.369,T	.	.	1,N	.	-1.01,N	2.0,T	5.8766	-1.756	1.100	.	.	AC=17;AN=34;BQB=0.308015;DP4=374,412,3,358;DP=1314;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.00171407;MQSB=0.0843345;RPB=0.559413;SF=1,2,3,5,7,8,9,11,13,14,15,16,17,19,20,22,23;SGB=-0.692717;VDB=0.00743858	GT:DP:DV:PL	.	0/1:63:23:120,0,255	0/1:61:18:113,0,255	0/1:60:14:72,0,255	.	0/1:74:37:150,0,255	.	0/1:78:18:72,0,255	0/1:71:17:90,0,255	0/1:57:17:98,0,255	.	0/1:74:20:95,0,255	.	0/1:85:22:85,0,255	0/1:27:9:95,0,255	0/1:36:24:156,0,143	0/1:90:35:137,0,255	0/1:62:15:84,0,255	.	0/1:82:25:101,0,255	0/1:87:21:63,0,255	.	0/1:45:14:109,0,255	0/1:95:32:111,0,255	.	C	G	0	17	.	.	.	.		.	.	.	.	.	.	.	
H	15	41797399	rs371913807	T	G	228	PASS	LTK	leukocyte receptor tyrosine kinase	splicing	NM_001135685,NM_002344,NM_206961	NM_001135685:exon13:c.1535+7A>C;NM_002344:exon15:c.1925+7A>C;NM_206961:exon14:c.1742+7A>C	.	.	ENST00000561619.1,ENST00000263800.6,ENST00000355166.5,ENST00000453182.2	.	15q15.1	.	.	.	.	.	rs371913807	.	.	0.00166113	0.002	0.000399361	.	8.351e-06	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.642	1.302	.	.	AC=2;AN=2;DP4=0,0,18,16;DP=47;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693132;VDB=0.187932	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:34:34:255,102,0	.	.	.	.	T	G	1	0	Leukocyte tyrosine kinase	.	.	.	14695357|8661736|7851890|7685902|2836739|2156206	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE;SOLUBLE_FRACTION	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
H	15	43067358	rs776776204	G	A	228	PASS	TTBK2	tau tubulin kinase 2	exonic	NM_173500	.	missense SNV	TTBK2:NM_173500:exon13:c.C1973T:p.A658V	ENST00000267890.6	.	15q15.2	.	.	.	.	.	rs776776204	.	.	.	.	.	.	1.665e-05	0	.	.	0.0,D	0.507,P	0.982,D	1,D	0.000002,D	2.42,M	0.18,T	20.0007	2.726	8.961	6.354399,29.4	5.77	AC=2;AN=2;DP4=0,0,29,3;DP=38;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.69312;VDB=0.553055	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:32:32:255,96,0	.	.	.	.	G	A	1	0	Spinocerebellar ataxia 11, 604432 (3)	.	.	.	23141541|18037885|16923168|10417284	.	.	.	.	.	.	.	PM2,PP3
L	15	44097658	rs575089383	C	T	228	PASS	MFAP1	microfibrillar-associated protein 1	exonic	NM_005926	.	synonymous SNV	MFAP1:NM_005926:exon8:c.G1053A:p.E351E	ENST00000267812.3	.	15q15.3	.	.	.	.	.	rs575089383	.	.	0	0.001	0.000199681	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.573	-0.751	1.784322,14.89	.	AC=2;AN=2;DP4=0,0,5,7;DP=17;MQ0F=0;MQ=60;MQSB=0.95494;SF=20;SGB=-0.680642;VDB=0.0516518	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:12:12:255,36,0	.	.	.	.	C	T	1	0	Microfibrillar-associated protein-1	.	.	.	15616564|9150721|7835894|1374398	.	.	.	.	.	.	.	PM2
H	15	50519297	rs761262316	A	G	228	PASS	SLC27A2	solute carrier family 27 (fatty acid transporter), member 2	exonic	NM_001159629,NM_003645	.	missense SNV	SLC27A2:NM_001159629:exon6:c.A1220G:p.Y407C,SLC27A2:NM_003645:exon7:c.A1379G:p.Y460C	ENST00000380902.4,ENST00000267842.5,ENST00000544960.1	.	15q21.2	.	.	.	.	.	rs761262316	.	.	.	.	.	.	5.776e-05	0.0008	.	.	0.0,D	0.997,D	1.0,D	1,D	0.000001,D	3.325,M	0.68,T	10.6174	0.999	3.993	5.915627,27.5	4.65	AC=2;AN=2;DP4=0,0,14,10;DP=34;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692831;VDB=0.0307704	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:24:24:255,72,0	.	.	.	.	A	G	1	0	Solute carrier family 27 (fatty acid transporter), member 2 (fatty acid CoA ligase, very long-chain 1)	.	.	.	17762044|12719378|12048192|9730624|9671728|8939997|7954810	CARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM;PEROXISOMAL_PART;MICROBODY_PART;INTRACELLULAR_ORGANELLE_PART;MICROBODY;PEROXISOME	LIGASE_ACTIVITY	KEGG_PPAR_SIGNALING_PATHWAY;KEGG_PEROXISOME	.	.	REACTOME_BILE_ACID_AND_BILE_SALT_METABOLISM;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_7ALPHA_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS_VIA_24_HYDROXYCHOLESTEROL;REACTOME_SYNTHESIS_OF_BILE_ACIDS_AND_BILE_SALTS;REACTOME_PEROXISOMAL_LIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PP3
H	15	56946603	rs752466811	C	A	228	PASS	ZNF280D	zinc finger protein 280D	exonic	NM_001002843,NM_001288588,NM_017661	.	missense SNV	ZNF280D:NM_001002843:exon17:c.G2117T:p.C706F,ZNF280D:NM_001288588:exon18:c.G2156T:p.C719F,ZNF280D:NM_017661:exon18:c.G2156T:p.C719F	ENST00000559000.1,ENST00000559237.1,ENST00000267807.7	.	15q21.3	.	.	.	.	.	rs752466811	.	.	.	.	.	.	3.308e-05	0.0005	.	.	0.046,D	0.999,D	1.0,D	0.999642,D	0.346065,N	2.83,M	3.62,T	18.6646	2.660	5.490	5.637180,26.6	5.62	AC=2;AN=2;DP4=0,0,9,2;DP=13;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.676189;VDB=0.0237681	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:11:11:255,33,0	.	.	.	.	C	A	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	15	58919999	rs79522282	T	C	221.5	PASS	ADAM10	ADAM metallopeptidase domain 10	exonic	NM_001110	.	synonymous SNV	ADAM10:NM_001110:exon10:c.A1260G:p.R420R	ENST00000260408.3,ENST00000396140.2,ENST00000402627.1,ENST00000561288.1	.	15q21.3	.	.	Score=787;Name=V$HEN1_01	.	.	rs79522282	.	.	0.0365449	0.0407	0.00878594	0.0002	0.0035	0.0402	0.0229709067381	0.0348558098558	.	.	.	.	.	.	.	.	0.926	3.173	.	4.39	AC=4;AN=8;BQB=0.976914;DP4=44,22,49,24;DP=193;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.276716;SF=5,11,20,22;SGB=-0.689466;VDB=0.848625	GT:DP:DV:PL	.	.	.	.	.	0/1:33:16:255,0,255	.	.	.	.	.	0/1:46:26:255,0,255	.	.	.	.	.	.	.	.	0/1:42:17:255,0,255	.	0/1:18:14:255,0,90	.	.	T	C	0	4	Reticulate acropigmentation of Kitamura, 615537 (3); {Alzheimer disease 18, susceptibility to}, 615590 (3)	.	.	.	26322584|24903973|24055016|23666529|22377761|21926978|20655472|20624979|20381196|20156974|19608551|18056631|17072319|16239146|15972296|15958533|15146243|15128827|12714508|12535668|12354787|12119356|11309494|10958785|9618175|9344679|9305925|9009225|7593158	BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;NEGATIVE_REGULATION_OF_CELL_ADHESION;PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;EMBRYONIC_DEVELOPMENT;NOTCH_SIGNALING_PATHWAY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS	ORGANELLE_PART;CELL_SURFACE;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;NUCLEUS;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;INTRACELLULAR_ORGANELLE_PART;GOLGI_ASSOCIATED_VESICLE	KINASE_BINDING;PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_BINDING;PROTEIN_DIMERIZATION_ACTIVITY;ENZYME_BINDING	KEGG_ALZHEIMERS_DISEASE;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	PID_NOTCH_PATHWAY;PID_PS1PATHWAY;PID_AJDISS_2PATHWAY	.	REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_ACTIVATED_NOTCH1_TRANSMITS_SIGNAL_TO_THE_NUCLEUS;REACTOME_SIGNALING_BY_NOTCH4;REACTOME_SIGNALING_BY_NOTCH2;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_SIGNALING_BY_NOTCH3;REACTOME_RECEPTOR_LIGAND_BINDING_INITIATES_THE_SECOND_PROTEOLYTIC_CLEAVAGE_OF_NOTCH_RECEPTOR;REACTOME_SIGNALING_BY_NOTCH	
H	15	65369669	rs142592180	C	G	222	PASS	KBTBD13	kelch repeat and BTB (POZ) domain containing 13	exonic	NM_001101362	.	missense SNV	KBTBD13:NM_001101362:exon1:c.C516G:p.D172E	ENST00000432196.2	CpG: 169	15q22.31	.	.	.	.	.	rs142592180	.	.	0.00166113	0.002	0.000399361	.	0.0006	0	0.00918836160796	0.00600961449519	0.367,T	0.81,P	0.995,D	0.999987,N	.	2.25,M	-0.24,T	12.1261	-0.297	0.000	2.807797,21.4	.	AC=2;AN=4;BQB=0.938651;DP4=9,16,12,15;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885699;SF=1,20;SGB=-0.686358;VDB=0.609276	GT:DP:DV:PL	.	0/1:25:14:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	C	G	0	2	Nemaline myopathy 6, autosomal dominant, 609273 (3)	.	.	.	21109227|21104864|12805120	.	.	.	.	.	.	.	
H	15	66215274	rs536867581	C	T	222	PASS	MEGF11	multiple EGF-like-domains 11	exonic	NM_032445	.	missense SNV	MEGF11:NM_032445:exon14:c.G1709A:p.R570H	ENST00000409699.2,ENST00000288745.3,ENST00000395614.1,ENST00000395625.2,ENST00000360698.4,ENST00000422354.1	.	15q22.31	.	.	.	.	.	rs536867581	.	.	0.00332226	0.002	0.000399361	.	0.0001	0.0014	0.00332226	0.00332226	0.529,T	0.013,B	0.047,B	1,D	0.017547,U	-0.175,N	0.73,T	10.6488	0.637	0.849	2.809181,21.4	.	AC=1;AN=2;BQB=0.140208;DP4=12,8,12,9;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.167321;SF=20;SGB=-0.692352;VDB=0.172831	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:21:255,0,255	.	.	.	.	C	T	0	1	Multiple epidermal growth factor-like domains 11	.	.	.	22407321|17498693|11347906	.	.	.	.	.	.	.	
L	15	67500946	rs117853536	C	T	222	PASS	AAGAB	alpha- and gamma-adaptin binding protein	exonic	NM_001271885,NM_001271886,NM_024666	.	synonymous SNV	AAGAB:NM_001271885:exon7:c.G342A:p.R114R,AAGAB:NM_001271886:exon7:c.G342A:p.R114R,AAGAB:NM_024666:exon7:c.G669A:p.R223R	ENST00000538028.1,ENST00000561452.1,ENST00000542650.1,ENST00000261880.5	.	15q23	.	.	.	.	.	rs117853536	.	.	0.0348837	0.0317	0.00778754	8.2e-05	0.0032	0.0313	0.0275650647779	0.027644215024	.	.	.	.	.	.	.	.	0.259	0.120	1.130305,11.38	.	AC=2;AN=4;BQB=0.970111;DP4=16,14,16,6;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.761015;SF=2,20;SGB=-0.676189;VDB=0.605455	GT:DP:DV:PL	.	.	0/1:25:11:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:11:255,0,255	.	.	.	.	C	T	0	2	Keratoderma, palmoplantar, punctate type IA, 148600 (3)	.	.	.	23064416|23000146|10477754	.	CYTOPLASM	.	.	.	.	.	
L	15	69238392	rs3743092	T	C	209.17	PASS	SPESP1	sperm equatorial segment protein 1	exonic	NM_145658	.	synonymous SNV	SPESP1:NM_145658:exon2:c.T519C:p.Y173Y	ENST00000310673.3,ENST00000560188.1,ENST00000260364.5,ENST00000455873.3,ENST00000557966.1,ENST00000448182.3	.	15q23	.	.	.	.	.	rs3743092	.	.	0.0481728	0.0437	0.0175719	0.0075	0.0146	0.0423	0.0405819442573	0.0480769574519	.	.	.	.	.	.	.	.	-1.529	-0.025	.	.	AC=6;AN=12;BQB=0.651439;DP4=73,21,63,24;DP=251;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898397;SF=2,7,8,10,20,23;SGB=-0.651104;VDB=0.00551721	GT:DP:DV:PL	.	.	0/1:20:8:178,0,255	.	.	.	.	0/1:35:17:255,0,255	0/1:22:10:255,0,255	.	0/1:39:22:255,0,255	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	0/1:37:16:255,0,255	.	T	C	0	6	Sperm equatorial segment protein 1	.	.	.	12773409	.	.	.	.	.	.	.	
L	15	69325606	rs150003957	A	C	219.29	PASS	NOX5	NADPH oxidase, EF-hand calcium binding domain 5	exonic	NM_001184779,NM_001184780,NM_024505	.	missense SNV	NOX5:NM_001184779:exon5:c.A760C:p.S254R,NOX5:NM_001184780:exon5:c.A739C:p.S247R,NOX5:NM_024505:exon5:c.A844C:p.S282R	ENST00000260364.5,ENST00000455873.3,ENST00000388866.3,ENST00000448182.3,ENST00000530406.2	CpG: 23	15q23	.	.	.	.	.	rs150003957	.	.	0.0299003	0.0258	0.0167732	0.0116	0.0167	0.0281	0.0199080819296	0.0300480584135	0.059,T	0.472,P	0.912,P	0.818637,N	0.000072,U	3.145,M	-2.83,D	6.5885	1.132	3.696	4.227705,23.9	3.26	AC=7;AN=14;BQB=0.446881;DP4=112,54,92,29;DP=404;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00923217;SF=2,7,8,10,20,23,24;SGB=-0.688148;VDB=0.0161753	GT:DP:DV:PL	.	.	0/1:38:15:236,0,255	.	.	.	.	0/1:38:19:255,0,255	0/1:41:16:255,0,255	.	0/1:40:15:255,0,255	.	.	.	.	.	.	.	.	.	0/1:30:15:255,0,255	.	.	0/1:55:26:255,0,255	0/1:45:15:255,0,255	A	C	0	7	NADPH oxidase 5	.	.	.	22291013|16339585|11483596	SUPEROXIDE_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	
H	15	69341293	rs146023435	C	T	145.67	PASS	NOX5	NADPH oxidase, EF-hand calcium binding domain 5	splicing	NM_001184779,NM_001184780,NM_024505	NM_001184779:exon14:c.1816-6C>T;NM_001184780:exon14:c.1795-6C>T;NM_024505:exon14:c.1900-6C>T	.	.	ENST00000525163.1,ENST00000260364.5,ENST00000455873.3,ENST00000388866.3,ENST00000448182.3,ENST00000530406.2	.	15q23	.	.	.	.	.	rs146023435	.	.	0.00830565	0.0079	0.00279553	0.0003	0.0041	0.0103	0.00535987897397	0.0108173080529	.	.	.	.	.	.	.	.	1.473	-0.114	.	2.16	AC=3;AN=6;BQB=0.980199;DP4=23,5,18,2;DP=66;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.89683;SF=2,20,24;SGB=-0.590765;VDB=0.161792	GT:DP:DV:PL	.	.	0/1:14:5:140,0,249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:5:145,0,255	.	.	.	0/1:19:10:251,0,222	C	T	0	3	NADPH oxidase 5	.	.	.	22291013|16339585|11483596	SUPEROXIDE_METABOLIC_PROCESS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;ELECTRON_TRANSPORT_GO_0006118;OXYGEN_AND_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS	.	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;OXIDOREDUCTASE_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NADH_OR_NADPH;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	
L	15	69548338	rs12440300	A	G	222	PASS	GLCE	glucuronic acid epimerase	exonic	NM_015554	.	missense SNV	GLCE:NM_015554:exon3:c.A193G:p.M65V	ENST00000559420.2,ENST00000261858.2	.	15q23	.	.	.	.	.	rs12440300	.	.	0.0215947	0.0288	0.0177716	0.0109	0.0211	0.0293	0.0283307833078	0.0228365617788	0.587,T	0.0,B	0.0,B	1,D	0.319319,N	-0.69,N	1.68,T	6.7562	0.677	1.194	.	3.3	AC=2;AN=4;BQB=0.667426;DP4=16,9,19,11;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995682;SF=2,20;SGB=-0.683931;VDB=0.236092	GT:DP:DV:PL	.	.	0/1:23:13:255,0,230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:17:255,0,255	.	.	.	.	A	G	0	2	Glucuronic acid epimerase	.	.	.	17985344|15853773|12788935|11279150|10048485	SULFUR_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS;PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;PROTEOGLYCAN_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	ISOMERASE_ACTIVITY	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_HEPARAN_SULFATE	.	.	REACTOME_HS_GAG_BIOSYNTHESIS;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	
H	15	70960666	.	A	G	185	PASS	UACA	uveal autoantigen with coiled-coil domains and ankyrin repeats	exonic	NM_001008224,NM_018003	.	missense SNV	UACA:NM_001008224:exon16:c.T2318C:p.L773P,UACA:NM_018003:exon16:c.T2357C:p.L786P	ENST00000539319.1,ENST00000379983.2,ENST00000560441.1,ENST00000322954.6	.	15q23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008,D	0.843,P	0.971,D	0.993574,D	0.576248,N	2.43,M	1.29,T	7.0532	-0.166	0.666	.	.	AC=1;AN=2;BQB=0.906646;DP4=12,7,5,4;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.690363;SF=20;SGB=-0.662043;VDB=0.0869892	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:9:219,0,255	.	.	.	.	A	G	0	1	Uveal autoantigen with coiled-coil domains and ankyrin repeats	.	.	.	15271982|14961764|12761289|11162650|10997877	.	.	.	.	.	.	.	PM2
L	15	72030194	rs77964295	C	T	222	PASS	THSD4	thrombospondin, type I, domain containing 4	exonic	NM_001286429,NM_024817	.	missense SNV	THSD4:NM_001286429:exon5:c.C674T:p.S225L,THSD4:NM_024817:exon10:c.C1754T:p.S585L	ENST00000357769.4,ENST00000261862.6,ENST00000355327.3,ENST00000567838.1	.	15q23	.	.	.	.	.	rs77964295	.	.	0.0415282	0.0437	0.0165735	0.0006	0.0125	0.0401	0.033690620827	0.0384615149038	0.087,T	0.025,B	0.491,P	1,N	.	0.805,L	0.06,T	6.4623	1.234	1.948	1.759928,14.75	3.35	AC=2;AN=4;BQB=0.998774;DP4=85,29,87,30;DP=313;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.654492;SF=2,20;SGB=-0.693147;VDB=0.984844	GT:DP:DV:PL	.	.	0/1:112:53:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:119:64:255,0,255	.	.	.	.	C	T	0	2	Thrombospondin type-1 domain-containing 4	.	.	.	21880733|19940141	.	.	.	.	.	.	.	
H	15	72104217	rs112520386	G	A	222	PASS	NR2E3	nuclear receptor subfamily 2, group E, member 3	splicing	NM_014249,NM_016346	NM_014249:exon3:c.349+8G>A;NM_016346:exon3:c.349+8G>A	.	.	ENST00000398840.2	CpG: 18	15q23	.	.	.	.	.	rs112520386	.	.	0.0481728	0.0357	0.00858626	.	0.0027	0.0295	0.039816276876	0.0432692663462	.	.	.	.	.	.	.	.	0.624	-0.039	.	.	AC=3;AN=6;BQB=0.801617;DP4=45,28,40,20;DP=164;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998265;SF=10,18,20;SGB=-0.693054;VDB=0.359158	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:55:28:255,0,255	.	.	.	.	.	.	.	0/1:38:13:255,0,255	.	0/1:40:19:255,0,255	.	.	.	.	G	A	0	3	Enhanced S-cone syndrome, 268100 (3); Retinitis pigmentosa 37, 611131 (3)	.	.	.	22605927|18294254|17564971|15689355|15190009|11773633|11487564|11071390|10965145|10805811|10655056|10220376|2481314	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;DETECTION_OF_ABIOTIC_STIMULUS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;DETECTION_OF_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION;TRANSCRIPTION_DNA_DEPENDENT;PHOTOTRANSDUCTION;RESPONSE_TO_LIGHT_STIMULUS;RNA_BIOSYNTHETIC_PROCESS;DETECTION_OF_STIMULUS;SENSORY_PERCEPTION;RESPONSE_TO_ABIOTIC_STIMULUS;NEUROLOGICAL_SYSTEM_PROCESS;TRANSCRIPTION;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_RADIATION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;SYSTEM_PROCESS;DETECTION_OF_EXTERNAL_STIMULUS	NUCLEUS	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
H	15	75188640	rs150525282	A	G	222	PASS	MPI	mannose phosphate isomerase	exonic	NM_001289155,NM_001289156,NM_001289157,NM_002435	.	missense SNV	MPI:NM_001289156:exon5:c.A668G:p.N223S,MPI:NM_001289157:exon5:c.A635G:p.N212S,MPI:NM_001289155:exon6:c.A818G:p.N273S,MPI:NM_002435:exon6:c.A818G:p.N273S	ENST00000323744.6,ENST00000566377.1,ENST00000563422.1,ENST00000352410.4,ENST00000564003.1,ENST00000535694.1,ENST00000562606.1,ENST00000563786.1	.	15q24.1	.	.	Score=793;Name=V$XBP1_01	.	.	rs150525282	.	.	.	.	.	7.7e-05	9.903e-05	0.0012	0.00142045	.	0.016,D	0.868,P	0.984,D	1,D	0.000000,N	2.915,M	-4.07,D	10.3254	0.826	5.127	2.519790,19.59	4.07	AC=1;AN=2;BQB=0.785565;DP4=26,12,31,9;DP=102;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.196336;SF=20;SGB=-0.693145;VDB=0.643977	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:78:40:255,0,255	.	.	.	.	A	G	0	1	Congenital disorder of glycosylation, type Ib, 602579 (3)	.	.	.	12414827|10980531|9585601|9525984|8307007|4120258|3080572|2575592|1222586|1137344|341373	.	.	INTRAMOLECULAR_OXIDOREDUCTASE_ACTIVITY;ISOMERASE_ACTIVITY	KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	BIOCARTA_FEEDER_PATHWAY	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_SYNTHESIS_OF_SUBSTRATES_IN_N_GLYCAN_BIOSYTHESIS;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_BIOSYNTHESIS_OF_THE_N_GLYCAN_PRECURSOR_DOLICHOL_LIPID_LINKED_OLIGOSACCHARIDE_LLO_AND_TRANSFER_TO_A_NASCENT_PROTEIN	
H	15	75651040	rs62029712	T	C	139.01	PASS	MAN2C1	mannosidase, alpha, class 2C, member 1	splicing	NM_001256494,NM_001256495,NM_001256496,NM_006715	NM_001256494:exon19:c.2297+5A>G;NM_001256495:exon19:c.2246+5A>G;NM_001256496:exon17:c.1949+5A>G;NM_006715:exon19:c.2246+5A>G	.	.	ENST00000569482.1,ENST00000267978.5,ENST00000565683.1,ENST00000563622.1	.	15q24.2	.	.	.	.	.	rs62029712	.	.	.	.	.	.	0.0002	0.0002	0.00284091	0.00434783	.	.	.	.	.	.	.	.	-0.002	-0.106	.	.	AC=20;AN=40;BQB=0.999592;DP4=535,343,170,156;DP=1634;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.00153381;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,16,18,19,20,21,22,24;SGB=-0.636426;VDB=6.71664e-05	GT:DP:DV:PL	0/1:49:7:83,0,255	0/1:67:12:151,0,255	0/1:71:25:255,0,255	0/1:43:6:87,0,255	0/1:62:10:83,0,255	.	0/1:61:12:153,0,255	0/1:66:31:255,0,255	0/1:45:16:214,0,255	0/1:37:15:223,0,255	0/1:56:22:255,0,255	0/1:53:12:141,0,255	0/1:54:15:185,0,255	0/1:75:25:255,0,255	.	.	0/1:50:15:196,0,255	.	0/1:59:13:114,0,255	0/1:71:11:78,0,255	0/1:76:13:92,0,255	0/1:88:23:238,0,255	0/1:40:11:158,0,255	.	0/1:81:32:255,0,255	T	C	0	20	Mannosidase, alpha, class 2C, member 1	.	.	.	6220608|752528|396129	.	.	.	KEGG_OTHER_GLYCAN_DEGRADATION	.	.	.	
H	15	76995253	.	C	A	213	PASS	SCAPER	S-phase cyclin A-associated protein in the ER	exonic	NM_001145923,NM_020843	.	missense SNV	SCAPER:NM_020843:exon18:c.G2338T:p.D780Y,SCAPER:NM_001145923:exon19:c.G1600T:p.D534Y	ENST00000538941.2,ENST00000563290.1,ENST00000324767.7	.	15q24.3	.	.	Score=904;Name=V$OCT1_03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998,D	1.0,D	1,D	0.000000,D	0.975,L	1.21,T	20.0589	2.732	7.487	6.868538,33	5.8	AC=1;AN=2;BQB=0.965815;DP4=5,5,11,1;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.123795;SF=20;SGB=-0.680642;VDB=0.0118383	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:246,0,253	.	.	.	.	C	A	0	1	S-phase cyclin A-associated protein in the endoplasmic reticulum	.	.	.	17698606|10819331	.	.	.	.	.	.	.	PM2
L	15	76995254	.	A	G	207	PASS	SCAPER	S-phase cyclin A-associated protein in the ER	exonic	NM_001145923,NM_020843	.	synonymous SNV	SCAPER:NM_020843:exon18:c.T2337C:p.T779T,SCAPER:NM_001145923:exon19:c.T1599C:p.T533T	ENST00000538941.2,ENST00000563290.1,ENST00000324767.7	.	15q24.3	.	.	Score=904;Name=V$OCT1_03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.136	-0.516	.	.	AC=1;AN=2;BQB=0.997828;DP4=5,5,11,1;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.115664;SF=20;SGB=-0.680642;VDB=0.0114287	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:240,0,253	.	.	.	.	A	G	0	1	S-phase cyclin A-associated protein in the endoplasmic reticulum	.	.	.	17698606|10819331	.	.	.	.	.	.	.	PM2
L	15	78369959	rs113518553	G	C	114.85	PASS	TBC1D2B	TBC1 domain family, member 2B	exonic	NM_015079,NM_144572	.	synonymous SNV	TBC1D2B:NM_015079:exon1:c.C36G:p.G12G,TBC1D2B:NM_144572:exon1:c.C36G:p.G12G	ENST00000409931.3,ENST00000300584.3	.	15q25.1	.	.	Score=713;Name=V$HOX13_01	.	Score=322;Name="1589958:C-rich(Low_complexity)"	rs113518553	.	.	.	.	.	.	0	.	.	0.230435	.	.	.	.	.	.	.	.	-0.817	-1.357	.	.	AC=21;AN=34;BQB=0.730444;DP4=28,47,19,91;DP=236;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.284674;SF=0,1,4,7,9,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.0550934	GT:DP:DV:PL	0/1:17:4:71,0,255	0/1:14:5:137,0,246	.	.	1/1:12:12:176,36,0	.	.	1/1:10:10:255,30,0	.	0/1:8:4:86,0,130	.	.	.	0/1:22:12:255,0,255	0/1:14:6:135,0,212	0/1:12:7:175,0,139	1/1:6:6:143,18,0	0/1:4:3:74,0,25	1/1:5:5:164,15,0	0/1:6:3:68,0,110	0/1:9:6:114,0,69	0/1:13:8:178,0,139	0/1:7:5:113,0,64	0/1:17:8:185,0,217	0/1:9:6:167,0,81	G	C	4	13	.	.	.	.		.	.	.	.	.	.	.	
H	15	79296447	rs754845042	G	A	222	PASS	RASGRF1	Ras protein-specific guanine nucleotide-releasing factor 1	exonic	NM_001145648,NM_002891	.	missense SNV	RASGRF1:NM_001145648:exon15:c.C2146T:p.R716C,RASGRF1:NM_002891:exon16:c.C2194T:p.R732C	ENST00000419573.3,ENST00000560334.1,ENST00000558480.2,ENST00000394745.3	.	15q25.1	.	.	Score=873;Name=V$NMYC_01	.	.	rs754845042	.	.	.	.	.	.	1.693e-05	0	.	.	0.0,D	0.982,D	1.0,D	1,D	0.000001,D	1.75,L	0.12,T	8.85	2.261	0.207	6.664423,32	3.35	AC=1;AN=2;BQB=0.734581;DP4=42,25,55,24;DP=205;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.332262;SF=20;SGB=-0.693147;VDB=0.000359531	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:146:79:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_FOCAL_ADHESION	PID_CDC42_PATHWAY;PID_TRKRPATHWAY;PID_RAC1_REG_PATHWAY;PID_RAS_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_NEURONAL_SYSTEM;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS	PM2
H	15	81592420	rs201457933	G	C	222	PASS	IL16	interleukin 16	exonic	NM_001172128,NM_004513,NM_172217	.	missense SNV	IL16:NM_004513:exon2:c.G650C:p.G217A,IL16:NM_172217:exon13:c.G2753C:p.G918A,IL16:NM_001172128:exon14:c.G2753C:p.G918A	ENST00000394652.2,ENST00000302987.4,ENST00000394660.2	.	15q25.1	.	.	Score=775;Name=V$HEN1_01	.	.	rs201457933	.	.	0.0166113	0.0159	0.00319489	.	0.0016	0.0204	0.00995405822358	0.016826925	0.095,T	0.167,B	0.499,P	1,N	0.635993,N	2.075,M	2.93,T	6.2019	0.902	2.247	.	2.26	AC=2;AN=4;BQB=0.887928;DP4=43,35,34,45;DP=196;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.11656;SF=3,20;SGB=-0.693145;VDB=0.371419	GT:DP:DV:PL	.	.	.	0/1:83:40:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:39:255,0,255	.	.	.	.	G	C	0	2	Interleukin 16	.	.	.	14607889|11971026|10369931|9637508|9144227|8609984|8533086|8314568|7910967|7042841	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	BIOCARTA_CYTOKINE_PATHWAY	.	
H	15	83226638	rs781571987	A	G	222	PASS	CPEB1	cytoplasmic polyadenylation element binding protein 1	exonic	NM_001079533,NM_001079534,NM_001079535,NM_001288819,NM_030594	.	missense SNV	CPEB1:NM_001079535:exon2:c.T253C:p.F85L,CPEB1:NM_001079533:exon3:c.T253C:p.F85L,CPEB1:NM_001079534:exon3:c.T253C:p.F85L,CPEB1:NM_001288819:exon4:c.T253C:p.F85L,CPEB1:NM_030594:exon4:c.T478C:p.F160L	ENST00000450751.2,ENST00000261723.6,ENST00000568285.1,ENST00000563800.1,ENST00000423133.2,ENST00000398592.2,ENST00000568757.1,ENST00000398591.2,ENST00000568128.1,ENST00000564522.1,ENST00000562019.1	.	15q25.2	.	.	.	.	.	rs781571987	.	.	.	.	.	.	2.486e-05	0.0003	.	.	0.055,T	0.009,B	0.004,B	1,D	0.001394,U	0.55,N	.	11.2781	2.243	6.867	2.870933,21.7	5.84	AC=1;AN=2;BQB=0.893461;DP4=11,14,12,11;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.316499;SF=20;SGB=-0.692717;VDB=0.259793	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	A	G	0	1	Cytoplasmic polyadenylation element-binding protein 1	.	.	.	23434754|21478871|19141477|18267074|17015432|11702780|11545727|11433366|11223249	.	.	.	KEGG_OOCYTE_MEIOSIS;KEGG_DORSO_VENTRAL_AXIS_FORMATION;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION	PID_AURORA_A_PATHWAY	.	.	
L	15	84911332	rs370503365	C	T	110	PASS	GOLGA6L4	golgin A6 family-like 4	exonic	NM_001267536	.	synonymous SNV	GOLGA6L4:NM_001267536:exon9:c.C1713T:p.I571I	ENST00000510439.2,ENST00000422563.2	.	15q25.2	.	.	.	Score=0.988843;Name=chr15:82926835	.	rs370503365	.	.	.	.	.	.	0.0006	0.0045	.	.	.	.	.	.	.	.	.	.	0.259	-0.139	.	.	AC=1;AN=2;BQB=0.963689;DP4=47,13,6,6;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=0.364702;MQSB=2.7812e-05;RPB=0.976285;SF=20;SGB=-0.680642;VDB=0.295418	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:72:12:145,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	15	85345330	rs781685879	C	T	222	PASS	ZNF592	zinc finger protein 592	exonic	NM_014630	.	synonymous SNV	ZNF592:NM_014630:exon11:c.C3510T:p.R1170R	ENST00000560079.2,ENST00000299927.3	.	15q25.3	.	.	Score=952;Name=V$MYOD_01	Score=0.979649;Name=chr18:3580224	.	rs781685879	.	.	.	.	.	.	4.576e-05	0.0006	.	.	.	.	.	.	.	.	.	.	0.287	-0.192	1.528465,13.46	.	AC=1;AN=2;BQB=0.946672;DP4=17,5,17,9;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.87477;MQSB=0.00116952;RPB=0.808631;SF=20;SGB=-0.692976;VDB=0.785202	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:26:255,0,255	.	.	.	.	C	T	0	1	Zinc finger protein 592	.	.	.	26123727|20531441|12030328|9039502	.	.	.	.	.	.	.	
H	15	90319976	.	C	G	222	PASS	MESP2	mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	missense SNV	MESP2:NM_001039958:exon1:c.C388G:p.R130G	ENST00000558723.1,ENST00000341735.3,ENST00000560219.1	CpG: 93	15q26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019,D	0.865,P	0.926,P	1,D	.	1.445,L	-4.66,D	9.86	1.934	1.907	6.182158,28.6	3.78	AC=1;AN=2;BQB=0.935399;DP4=17,8,14,6;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.196305;SF=20;SGB=-0.692067;VDB=0.0988614	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:20:255,0,255	.	.	.	.	C	G	0	1	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|16505380|15902259|15122512|10932180|9242490	.	.	.	.	.	.	.	PM2
L	15	90320146	rs28546919	G	A	144.72	PASS	MESP2	mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	synonymous SNV	MESP2:NM_001039958:exon1:c.G558A:p.Q186Q	ENST00000558723.1,ENST00000341735.3,ENST00000560219.1	CpG: 93	15q26.1	.	.	.	.	Score=192;Name="1612945:G-rich(Low_complexity)"	rs28546919	.	.	.	.	.	.	0.0252	0	.	0.026087	.	.	.	.	.	.	.	.	-0.803	-2.695	.	.	AC=25;AN=50;BQB=0.992367;DP4=151,28,121,129;DP=806;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.992367;MQSB=0.900802;RPB=0.124046;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.556411;VDB=0.0298006	GT:DP:DV:PL	0/1:8:4:111,0,93	0/1:11:7:147,0,92	0/1:20:8:165,0,201	0/1:17:13:252,0,82	0/1:21:12:213,0,186	0/1:24:17:255,0,102	0/1:20:12:209,0,149	0/1:17:14:246,0,45	0/1:16:10:160,0,110	0/1:8:6:106,0,45	0/1:15:6:111,0,168	0/1:14:7:135,0,161	0/1:18:11:178,0,147	0/1:21:10:204,0,169	0/1:15:6:141,0,167	0/1:16:12:197,0,84	0/1:14:10:176,0,76	0/1:19:7:125,0,203	0/1:18:8:164,0,202	0/1:17:11:162,0,112	0/1:21:16:255,0,76	0/1:27:20:255,0,98	0/1:12:6:143,0,132	0/1:20:10:198,0,142	0/1:20:7:144,0,185	G	A	0	25	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|16505380|15902259|15122512|10932180|9242490	.	.	.	.	.	.	.	
L	15	90320149	rs767474985	G	A	121.19	PASS	MESP2	mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	synonymous SNV	MESP2:NM_001039958:exon1:c.G561A:p.G187G	ENST00000558723.1,ENST00000341735.3,ENST00000560219.1	CpG: 93	15q26.1	.	.	.	.	Score=192;Name="1612945:G-rich(Low_complexity)"	rs767474985	.	.	.	.	.	.	0.0002	0	.	0.0130435	.	.	.	.	.	.	.	.	-0.998	1.088	.	.	AC=19;AN=38;BQB=0.974597;DP4=143,40,59,97;DP=640;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.974597;MQSB=0.974597;RPB=0.0812164;SF=0,1,2,3,4,6,7,8,9,10,11,13,14,16,17,18,19,20,24;SGB=-0.590765;VDB=0.0243383	GT:DP:DV:PL	0/1:9:5:133,0,91	0/1:13:9:198,0,87	0/1:19:7:147,0,207	0/1:21:4:56,0,255	0/1:24:12:214,0,211	.	0/1:20:12:222,0,149	0/1:18:7:118,0,221	0/1:17:11:199,0,107	0/1:8:6:111,0,30	0/1:18:7:149,0,174	0/1:16:8:170,0,169	.	0/1:23:11:214,0,200	0/1:16:7:156,0,167	.	0/1:14:10:178,0,91	0/1:19:7:114,0,220	0/1:22:9:169,0,255	0/1:18:12:188,0,124	0/1:24:6:98,0,255	.	.	.	0/1:20:6:105,0,188	G	A	0	19	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|16505380|15902259|15122512|10932180|9242490	.	.	.	.	.	.	.	
L	15	90320161	rs113097169	G	A	78.6	PASS	MESP2	mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	synonymous SNV	MESP2:NM_001039958:exon1:c.G573A:p.G191G	ENST00000558723.1,ENST00000341735.3,ENST00000560219.1	CpG: 93	15q26.1	.	.	.	.	Score=192;Name="1612945:G-rich(Low_complexity)"	rs113097169	.	.	.	.	.	.	0.0086	0.0045	.	0.0391304	.	.	.	.	.	.	.	.	-1.176	0.430	.	.	AC=21;AN=42;BQB=0.767432;DP4=311,63,56,79;DP=817;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0144756;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22;SGB=-0.556411;VDB=0.0257451	GT:DP:DV:PL	0/1:16:4:66,0,160	0/1:15:5:120,0,198	0/1:24:7:132,0,216	.	0/1:25:9:182,0,255	0/1:41:9:114,0,182	0/1:22:8:155,0,192	0/1:25:9:165,0,246	0/1:18:6:117,0,157	0/1:10:3:69,0,165	0/1:25:6:103,0,220	0/1:17:6:132,0,207	0/1:29:5:57,0,255	0/1:28:7:124,0,255	0/1:19:5:94,0,190	0/1:33:6:78,0,249	0/1:15:4:73,0,177	.	0/1:23:6:116,0,255	0/1:16:6:122,0,196	0/1:28:10:180,0,213	0/1:57:8:58,0,255	0/1:23:6:108,0,235	.	.	G	A	0	21	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|16505380|15902259|15122512|10932180|9242490	.	.	.	.	.	.	.	
H	15	90320496	rs185706635	T	C	222	PASS	MESP2	mesoderm posterior bHLH transcription factor 2	exonic	NM_001039958	.	missense SNV	MESP2:NM_001039958:exon1:c.T908C:p.L303P	ENST00000558723.1,ENST00000341735.3,ENST00000560219.1	.	15q26.1	.	.	.	.	.	rs185706635	.	.	0.0249169	0.0198	0.00459265	.	0.0051	0.0344	0.0176109863706	0.0252403651442	0.001,D	0.093,B	0.331,B	0.999988,D	.	1.75,L	-2.17,D	6.8392	0.810	1.109	4.653746,24.5	3.53	AC=4;AN=8;BQB=0.943303;DP4=72,97,92,93;DP=479;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.393025;SF=4,16,20,24;SGB=-0.693145;VDB=0.67774	GT:DP:DV:PL	.	.	.	.	0/1:74:40:255,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:67:34:255,0,255	.	.	.	0/1:73:41:255,0,255	.	.	.	0/1:140:70:255,0,255	T	C	0	4	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)	.	.	.	18485326|16505380|15902259|15122512|10932180|9242490	.	.	.	.	.	.	.	
H	15	93198687	rs200080757	G	C	61.96	PASS	FAM174B	family with sequence similarity 174, member B	exonic	NM_207446	.	missense SNV	FAM174B:NM_207446:exon1:c.C203G:p.S68C	ENST00000327355.5	CpG: 96	15q26.1	.	.	.	.	.	rs200080757	.	.	.	.	.	.	0.0002	0	0.00142045	.	0.068,T	0.82,P	0.978,D	1,D	0.827033,U	1.1,L	0.92,T	5.1451	0.134	0.014	1.709678,14.46	.	AC=15;AN=22;BQB=1;DP4=15,2,19,22;DP=626;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,2,4,5,6,8,13,16,18,20,21;SGB=-0.511536;VDB=0.0221621	GT:DP:DV:PL	0/1:4:3:85,0,10	.	0/1:6:4:86,0,35	.	1/1:3:3:105,9,0	1/1:3:3:89,9,0	1/1:4:4:128,12,0	.	0/1:9:5:103,0,83	.	.	.	.	0/1:7:4:97,0,34	.	.	0/1:5:3:65,0,55	.	1/1:2:2:50,6,0	.	0/1:6:4:74,0,38	0/1:9:6:142,0,24	.	.	.	G	C	4	7	.	.	.	.		.	.	.	.	.	.	.	PM2
H	15	93198688	rs746877649	A	C	52.94	PASS	FAM174B	family with sequence similarity 174, member B	exonic	NM_207446	.	missense SNV	FAM174B:NM_207446:exon1:c.T202G:p.S68A	ENST00000327355.5	CpG: 96	15q26.1	.	.	.	.	.	rs746877649	.	.	.	.	.	.	0.0002	0	.	.	0.423,T	0.006,B	0.003,B	1,D	0.827033,U	1.1,L	1.13,T	7.0673	0.323	-0.023	.	.	AC=15;AN=26;BQB=1;DP4=13,3,23,23;DP=758;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=0,2,4,5,6,8,13,16,18,19,20,21,23;SGB=-0.511536;VDB=0.0249187	GT:DP:DV:PL	0/1:4:3:85,0,12	.	0/1:5:4:89,0,22	.	0/1:4:3:93,0,24	0/1:4:3:78,0,24	1/1:4:4:128,12,0	.	0/1:7:5:99,0,48	.	.	.	.	0/1:5:4:104,0,22	.	.	0/1:5:3:65,0,59	.	1/1:2:2:50,6,0	0/1:4:3:56,0,12	0/1:7:4:71,0,57	0/1:8:6:137,0,34	.	0/1:3:2:57,0,28	.	A	C	2	11	.	.	.	.		.	.	.	.	.	.	.	PM2
H	15	94841630	rs557766395	C	T	221	PASS	MCTP2	multiple C2 domains, transmembrane 2	exonic	NM_001159643,NM_018349	.	missense SNV	MCTP2:NM_001159643:exon1:c.C136T:p.R46C,MCTP2:NM_018349:exon1:c.C136T:p.R46C	ENST00000331706.4,ENST00000357742.4,ENST00000451018.3,ENST00000543482.1	.	15q26.2	.	.	.	.	.	rs557766395	.	.	0.00166113	0.001	0.000399361	.	3.297e-05	0.0002	0.00166113	0.00166113	0.001,D	0.992,D	1.0,D	1,D	0.000104,D	2.32,M	-0.48,T	15.274	0.527	2.554	6.212519,28.7	.	AC=1;AN=2;BQB=0.760872;DP4=22,12,10,7;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.990266;SF=20;SGB=-0.690438;VDB=0.237226	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:17:255,0,255	.	.	.	.	C	T	0	1	Multiple C2 domains-containing transmembrane protein 2	.	.	.	23773997|15528213	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;MEMBRANE_FRACTION	LIPID_BINDING;CATION_BINDING;CALCIUM_ION_BINDING;PHOSPHOLIPID_BINDING;ION_BINDING	.	.	.	.	PP3
H	15	99500549	rs531850849	G	A	222	PASS	IGF1R	insulin-like growth factor 1 receptor	exonic	NM_000875,NM_001291858	.	missense SNV	IGF1R:NM_000875:exon21:c.G3982A:p.G1328S,IGF1R:NM_001291858:exon21:c.G3979A:p.G1327S	ENST00000558762.1,ENST00000268035.6,ENST00000559468.1	CpG: 23	15q26.3	.	.	.	.	.	rs531850849	.	.	0	.	0.000199681	.	0.0003	0.0030	.	.	0.118,T	0.506,P	0.99,D	0.791095,D	0.004925,N	1.935,L	-0.94,T	8.2905	1.359	3.980	2.096094,16.83	3.28	AC=1;AN=2;BQB=0.999655;DP4=10,13,10,8;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996899;SF=20;SGB=-0.691153;VDB=0.937004	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:18:255,0,255	.	.	.	.	G	A	0	1	Insulin-like growth factor I, resistance to, 270450 (3)	.	.	.	18349070|18316725|17625568|17264177|16990549|16894147|16642022|16569742|15928254|15565107|14671200|14657428|14628051|12843179|12813019|12771153|12714661|12483226|12065745|11923875|11773005|11485987|11423532|11292875|10770205|10720440|9745438|9524259|8710868|8402901|8111387|8111378|3107886|3003744|2877871|2442619|1849352|1711844|1676559|1430235|1316909	PROTEIN_OLIGOMERIZATION;PROTEIN_AUTOPROCESSING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_DEVELOPMENT;INSULIN_RECEPTOR_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_APOPTOSIS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;PROTEIN_TETRAMERIZATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROGRAMMED_CELL_DEATH;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;ANTI_APOPTOSIS;PROTEIN_PROCESSING;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO;REGULATION_OF_CELL_PROLIFERATION	.	TRANSMEMBRANE_RECEPTOR_PROTEIN_KINASE_ACTIVITY;KINASE_BINDING;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GROWTH_FACTOR_BINDING;ENZYME_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_ENDOCYTOSIS;KEGG_FOCAL_ADHESION;KEGG_ADHERENS_JUNCTION;KEGG_LONG_TERM_DEPRESSION;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_PATHWAYS_IN_CANCER;KEGG_GLIOMA;KEGG_PROSTATE_CANCER;KEGG_MELANOMA	PID_ER_NONGENOMIC_PATHWAY;PID_SHP2_PATHWAY;PID_IGF1_PATHWAY;PID_AJDISS_2PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	BIOCARTA_HDAC_PATHWAY;BIOCARTA_ERK_PATHWAY;BIOCARTA_IGF1_PATHWAY;BIOCARTA_IGF1R_PATHWAY;BIOCARTA_BAD_PATHWAY;BIOCARTA_IGF1MTOR_PATHWAY;BIOCARTA_TEL_PATHWAY;BIOCARTA_LONGEVITY_PATHWAY	.	
H	15	101042009	rs201614149	G	A	222	PASS	CERS3	ceramide synthase 3	exonic	NM_001290341,NM_001290342,NM_001290343,NM_178842	.	missense SNV	CERS3:NM_001290342:exon4:c.C46T:p.L16F,CERS3:NM_001290343:exon4:c.C46T:p.L16F,CERS3:NM_178842:exon4:c.C46T:p.L16F,CERS3:NM_001290341:exon5:c.C79T:p.L27F	ENST00000538112.2,ENST00000284382.4,ENST00000394113.1,ENST00000560944.1	.	15q26.3	.	.	.	.	.	rs201614149	.	.	0.00166113	0.001	0.000199681	.	7.42e-05	0.0010	0.00166113	0.00166113	0.17,T	0.927,D	0.999,D	1,D	0.000015,D	2.045,M	-1.58,D	14.5837	2.583	4.098	4.523067,24.3	5.19	AC=1;AN=2;BQB=0.552591;DP4=10,8,12,5;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.181217;SF=20;SGB=-0.690438;VDB=0.47161	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:17:255,0,255	.	.	.	.	G	A	0	1	Ichthyosis, congenital, autosomal recessive 9, 615023 (3)	.	.	.	23754960|23549421|16753040	.	.	.	.	.	.	REACTOME_SPHINGOLIPID_DE_NOVO_BIOSYNTHESIS;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
H	16	105779	rs200095997	G	A	222	PASS	SNRNP25	small nuclear ribonucleoprotein 25kDa (U11/U12)	exonic	NM_024571	.	missense SNV	SNRNP25:NM_024571:exon3:c.G163A:p.V55M	ENST00000493672.1,ENST00000383018.3	.	16p13.3	.	.	.	.	.	rs200095997	.	.	.	.	.	.	2.554e-05	0	.	.	0.002,D	0.844,P	0.996,D	0.999714,D	0.000014,D	2.765,M	2.51,T	16.6779	2.537	6.789	5.146397,25.4	5.39	AC=1;AN=2;BQB=0.10085;DP4=18,8,28,4;DP=79;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987851;SF=20;SGB=-0.69312;VDB=0.023314	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:32:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;NUCLEAR_PART;NUCLEUS;SPLICEOSOME;U12_DEPENDENT_SPLICEOSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX	.	.	.	.	.	PM2,PP3
H	16	601435	rs144209708	C	T	222	PASS	CAPN15	calpain 15	splicing	NM_005632	NM_005632:exon8:c.2192+8C>T	.	.	ENST00000565879.1,ENST00000219611.2	.	16p13.3	.	.	.	.	.	rs144209708	.	.	0	.	0.000399361	0.0022	0.0018	0.0012	.	0.00434783	.	.	.	.	.	.	.	.	0.011	-0.592	.	.	AC=1;AN=2;BQB=0.96194;DP4=46,23,47,20;DP=193;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.899026;SF=20;SGB=-0.693147;VDB=0.591532	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:136:67:255,0,255	.	.	.	.	C	T	0	1	Small optic lobes, Drosophila, homolog of	.	.	.	9722942|8640222	.	.	.	.	.	.	.	
L	16	602174	.	G	T	221	PASS	CAPN15	calpain 15	exonic	NM_005632	.	synonymous SNV	CAPN15:NM_005632:exon10:c.G2469T:p.R823R	ENST00000565879.1,ENST00000219611.2	.	16p13.3	.	.	Score=877;Name=V$ZID_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.290	-2.850	.	.	AC=1;AN=2;BQB=0.807621;DP4=23,5,10,4;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.957844;SF=20;SGB=-0.686358;VDB=0.694999	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:14:255,0,255	.	.	.	.	G	T	0	1	Small optic lobes, Drosophila, homolog of	.	.	.	9722942|8640222	.	.	.	.	.	.	.	PM2
M	16	624694	rs200353362	G	A	222	PASS	PIGQ	phosphatidylinositol glycan anchor biosynthesis, class Q	exonic	NM_004204,NM_148920	.	missense SNV	PIGQ:NM_004204:exon2:c.G620A:p.R207Q,PIGQ:NM_148920:exon2:c.G620A:p.R207Q	ENST00000321878.5,ENST00000409527.2,ENST00000026218.5,ENST00000470411.2	.	16p13.3	.	.	.	.	.	rs200353362	.	.	0.0265781	0.0248	0.00519169	.	0.0012	0.0140	0.0145482493415	0.0204327128606	0.607,T	0.007,B	0.085,B	0.962564,N	0.055103,N	0.16,N	1.06,T	14.5855	-0.844	0.877	.	.	AC=2;AN=4;BQB=0.858955;DP4=34,24,33,17;DP=151;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.783947;SF=12,20;SGB=-0.691153;VDB=0.0897668	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:18:255,0,255	.	.	.	.	.	.	.	0/1:62:32:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		CARBOHYDRATE_METABOLIC_PROCESS	.	.	KEGG_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI_ANCHOR_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI	
H	16	682958	.	C	T	222	PASS	WFIKKN1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	exonic	NM_053284	.	missense SNV	WFIKKN1:NM_053284:exon2:c.C548T:p.P183L	ENST00000319070.2	CpG: 324	16p13.3	.	.	Score=810;Name=V$ARP1_01	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216,T	0.016,B	0.016,B	0.854277,D	0.000002,D	2.16,M	-0.38,T	9.7195	-0.147	2.099	1.252964,12.02	.	AC=1;AN=2;BQB=0.782036;DP4=30,11,19,7;DP=84;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.643332;SF=20;SGB=-0.692976;VDB=0.473019	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:26:255,0,255	.	.	.	.	C	T	0	1	WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 1	.	.	.	12709070|11274388	.	.	.	.	.	.	.	PM2
L	16	818658	rs201197109	G	A	222	PASS	MSLN	mesothelin	exonic	NM_001177355,NM_005823,NM_013404	.	synonymous SNV	MSLN:NM_013404:exon17:c.G1818A:p.S606S,MSLN:NM_001177355:exon18:c.G1794A:p.S598S,MSLN:NM_005823:exon18:c.G1794A:p.S598S	ENST00000382862.3,ENST00000545450.2,ENST00000566549.1,ENST00000563941.1	.	16p13.3	.	.	.	.	.	rs201197109	.	.	0.00664452	0.0079	0.00159744	0.0002	0.0008	0.01	0.00459418199081	0.00721153911058	.	.	.	.	.	.	.	.	-0.944	-3.211	0.983362,10.57	.	AC=1;AN=2;BQB=0.777336;DP4=31,7,31,9;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992223;SF=20;SGB=-0.693145;VDB=0.899654	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:78:40:255,0,255	.	.	.	.	G	A	0	1	Mesothelin	.	.	.	10733593|10500211|8552591|7665620	.	.	ANTIGEN_BINDING;PEPTIDE_BINDING	.	.	.	.	
H	16	840169	rs767721471	C	T	222	PASS	CHTF18	chromosome transmission fidelity factor 18	splicing	NM_022092	NM_022092:exon5:c.607-8C>T	.	.	ENST00000491530.1,ENST00000455171.2,ENST00000262315.9,ENST00000317063.6	.	16p13.3	.	.	.	.	.	rs767721471	.	.	.	.	.	.	2.884e-05	0.0006	.	.	.	.	.	.	.	.	.	.	0.404	-1.607	.	2.4	AC=1;AN=2;BQB=0.772336;DP4=43,32,43,29;DP=201;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.900744;SF=20;SGB=-0.693147;VDB=0.0885191	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:147:72:255,0,255	.	.	.	.	C	T	0	1	Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of	.	.	.	19907496|12930902|12766176|12171929	.	.	.	.	.	.	.	
H	16	1269015	.	C	T	222	PASS	CACNA1H	calcium channel, voltage-dependent, T type, alpha 1H subunit	exonic	NM_001005407,NM_021098	.	missense SNV	CACNA1H:NM_001005407:exon33:c.C5915T:p.S1972F,CACNA1H:NM_021098:exon34:c.C5933T:p.S1978F	ENST00000348261.5,ENST00000358590.4,ENST00000565831.1	.	16p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391,T	0.414,B	0.775,P	1,N	0.000000,N	2.38,M	-4.02,D	14.3862	2.326	1.256	3.351324,22.9	4.45	AC=1;AN=2;BQB=0.109592;DP4=16,1,18,2;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.66755;SF=20;SGB=-0.692067;VDB=0.0246307	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:20:255,0,255	.	.	.	.	C	T	0	1	{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); {Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)	.	.	.	17696120|15888660|15852375|15048902|14729682|12891677|12853961|12808460|11927664|11751928|10861024|9930755|9670923	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;DEVELOPMENTAL_MATURATION;STRIATED_MUSCLE_DEVELOPMENT;MYOBLAST_DIFFERENTIATION;MUSCLE_CELL_DIFFERENTIATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_HEART_CONTRACTION;SKELETAL_MUSCLE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;MEMBRANE_FUSION;REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS;ORGAN_DEVELOPMENT;CELL_MATURATION;SYSTEM_PROCESS	MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_NCAM1_INTERACTIONS;REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH	PM2
L	16	1291598	rs200334042	G	A	99.58	PASS	TPSAB1	tryptase alpha/beta 1	exonic	NM_003294	.	missense SNV	TPSAB1:NM_003294:exon4:c.G397A:p.V133I	ENST00000338844.3,ENST00000461509.2	.	16p13.3	.	.	.	Score=0.983779;Name=chr16:1275687	.	rs200334042	.	.	.	.	.	.	0.0052	0.0384	0.0255682	0.0478261	0.759,T	0.0,B	0.0,B	1,N	0.363767,N	-0.515,N	-1.45,T	1.7378	-1.310	-2.770	.	.	AC=10;AN=20;BQB=0.0296578;DP4=620,175,231,35;DP=1384;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=0.984756;MQSB=0.000109098;RPB=5.60348e-05;SF=1,2,3,4,6,17,18,19,20,22;SGB=-0.692562;VDB=6.76444e-08	GT:DP:DV:PL	.	0/1:106:22:101,0,255	0/1:121:29:82,0,255	0/1:117:29:72,0,255	0/1:131:41:255,0,255	.	0/1:111:24:76,0,255	.	.	.	.	.	.	.	.	.	.	0/1:101:18:75,0,255	0/1:102:33:203,0,255	0/1:98:28:143,0,255	0/1:127:29:145,0,255	.	0/1:47:13:189,0,255	.	.	G	A	0	10	Tryptase, alpha/beta-1	.	.	.	12370311|12100045|10843716|10391906|9920877|2677049|2203827|2187193	DEFENSE_RESPONSE	.	.	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	
L	16	1291608	rs201820654	A	G	108.99	PASS	TPSAB1	tryptase alpha/beta 1	exonic	NM_003294	.	missense SNV	TPSAB1:NM_003294:exon4:c.A407G:p.H136R	ENST00000338844.3,ENST00000461509.2	.	16p13.3	.	.	Score=923;Name=V$PAX4_03	Score=0.983779;Name=chr16:1275687	.	rs201820654	.	.	.	.	.	.	0.0030	0.0076	0.0213068	0.0565217	0.312,T	0.008,B	0.003,B	1,N	0.157165,N	0.23,N	-1.48,T	3.6738	-0.290	-0.495	.	.	AC=11;AN=22;BQB=0.724156;DP4=752,215,298,35;DP=1735;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=0.999943;MQSB=4.2963e-05;RPB=1.9847e-05;SF=1,2,3,6,14,17,18,19,20,22,23;SGB=-0.692976;VDB=2.5799e-07	GT:DP:DV:PL	.	0/1:109:26:153,0,255	0/1:133:34:96,0,255	0/1:123:35:89,0,255	.	.	0/1:121:31:145,0,255	.	.	.	.	.	.	.	0/1:169:38:82,0,255	.	.	0/1:104:21:102,0,255	0/1:111:37:228,0,255	0/1:108:35:174,0,255	0/1:137:35:189,0,255	.	0/1:52:17:242,0,255	0/1:133:24:76,0,255	.	A	G	0	11	Tryptase, alpha/beta-1	.	.	.	12370311|12100045|10843716|10391906|9920877|2677049|2203827|2187193	DEFENSE_RESPONSE	.	.	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	
L	16	1291623	rs765144578	C	T	113.51	PASS	TPSAB1	tryptase alpha/beta 1	exonic	NM_003294	.	missense SNV	TPSAB1:NM_003294:exon4:c.C422T:p.T141I	ENST00000338844.3,ENST00000461509.2	.	16p13.3	.	.	Score=938;Name=V$SP1_01	Score=0.983779;Name=chr16:1275687	.	rs765144578	.	.	.	.	.	.	0.0068	0.0130	0.0667614	0.0695652	0.024,D	0.226,B	0.173,B	0.992627,N	0.771165,N	0.645,N	-1.5,D	10.5768	1.819	-0.013	1.395572,12.77	2.69	AC=12;AN=24;BQB=0.525584;DP4=868,286,410,30;DP=2078;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=0.865533;MQSB=4.91002e-05;RPB=5.55889e-05;SF=1,2,3,6,11,14,17,18,19,20,22,23;SGB=-0.69312;VDB=2.25982e-06	GT:DP:DV:PL	.	0/1:125:32:133,0,255	0/1:151:41:97,0,255	0/1:135:42:132,0,255	.	.	0/1:144:44:190,0,255	.	.	.	.	0/1:115:32:96,0,255	.	.	0/1:190:52:143,0,255	.	.	0/1:115:24:77,0,255	0/1:124:40:211,0,255	0/1:133:41:168,0,255	0/1:155:43:182,0,255	.	0/1:57:20:255,0,255	0/1:150:29:88,0,255	.	C	T	0	12	Tryptase, alpha/beta-1	.	.	.	12370311|12100045|10843716|10391906|9920877|2677049|2203827|2187193	DEFENSE_RESPONSE	.	.	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	
L	16	1291624	rs752657381	C	G	113.21	PASS	TPSAB1	tryptase alpha/beta 1	exonic	NM_003294	.	synonymous SNV	TPSAB1:NM_003294:exon4:c.C423G:p.T141T	ENST00000338844.3,ENST00000461509.2	.	16p13.3	.	.	Score=938;Name=V$SP1_01	Score=0.983779;Name=chr16:1275687	.	rs752657381	.	.	.	.	.	.	0.0068	0.0131	0.0667614	0.0695652	.	.	.	.	.	.	.	.	-0.332	-0.650	.	.	AC=13;AN=26;BQB=0.896829;DP4=958,324,451,35;DP=2287;HOB=0.5;ICB=1;MQ0F=0;MQ=40;MQB=0.989447;MQSB=3.18217e-05;RPB=6.80354e-05;SF=1,2,3,6,7,11,14,17,18,19,20,22,23;SGB=-0.693132;VDB=2.75313e-06	GT:DP:DV:PL	.	0/1:128:34:165,0,255	0/1:154:42:118,0,255	0/1:137:43:113,0,255	.	.	0/1:145:44:175,0,255	0/1:148:30:56,0,255	.	.	.	0/1:116:32:95,0,255	.	.	0/1:192:52:141,0,255	.	.	0/1:119:27:113,0,255	0/1:128:45:241,0,255	0/1:138:44:174,0,255	0/1:156:43:185,0,255	.	0/1:58:22:255,0,255	0/1:149:28:84,0,255	.	C	G	0	13	Tryptase, alpha/beta-1	.	.	.	12370311|12100045|10843716|10391906|9920877|2677049|2203827|2187193	DEFENSE_RESPONSE	.	.	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	
H	16	1396264	rs539418901	G	A	222	PASS	BAIAP3	BAI1-associated protein 3	exonic	NM_001199096,NM_001199097,NM_001199098,NM_001199099,NM_001286464,NM_003933	.	missense SNV	BAIAP3:NM_001199096:exon24:c.G2287A:p.E763K,BAIAP3:NM_001199097:exon25:c.G2395A:p.E799K,BAIAP3:NM_001199098:exon25:c.G2326A:p.E776K,BAIAP3:NM_001199099:exon25:c.G2311A:p.E771K,BAIAP3:NM_001286464:exon25:c.G2446A:p.E816K,BAIAP3:NM_003933:exon25:c.G2500A:p.E834K	ENST00000568887.1,ENST00000564213.1,ENST00000562208.1,ENST00000397489.1,ENST00000426824.3,ENST00000397488.2,ENST00000421665.2,ENST00000324385.5	.	16p13.3	.	.	Score=762;Name=V$PAX5_02	.	.	rs539418901	.	.	0	.	0.000399361	.	0.0002	0	.	.	0.075,T	0.079,B	0.802,P	0.999999,N	0.060734,N	2.215,M	-0.6,T	7.3435	0.303	1.492	0.893822,10.04	.	AC=1;AN=2;BQB=0.913253;DP4=46,12,30,12;DP=132;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.806154;SF=20;SGB=-0.693146;VDB=0.614415	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:100:42:255,0,255	.	.	.	.	G	A	0	1	BAI1-associated protein 3	.	.	.	9872452|9790924	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;SECRETION_BY_CELL;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;CELL_CELL_SIGNALING;REGULATION_OF_NEUROTRANSMITTER_LEVELS;SYNAPTIC_TRANSMISSION;REGULATED_SECRETORY_PATHWAY;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;SECRETION;GENERATION_OF_A_SIGNAL_INVOLVED_IN_CELL_CELL_SIGNALING;CELLULAR_LOCALIZATION;NEUROTRANSMITTER_SECRETION;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	PM2
H	16	1547428	rs537015981	G	A	184	PASS	TELO2	telomere maintenance 2	exonic	NM_016111	.	missense SNV	TELO2:NM_016111:exon5:c.G749A:p.R250H	ENST00000262319.6	.	16p13.3	.	.	.	.	.	rs537015981	.	.	0.00166113	0.001	0.000798722	.	0.0003	0	0.00166113	0.00166113	0.003,D	0.88,P	0.999,D	0.999345,D	0.000004,D	2.685,M	-2.0,D	12.3816	1.044	6.299	6.679901,32	3.91	AC=1;AN=2;BQB=0.510999;DP4=12,5,8,1;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.510999;SF=20;SGB=-0.662043;VDB=0.0352033	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:9:217,0,255	.	.	.	.	G	A	0	1	Telomere maintenance 2, S. cerevisiae, homolog of	.	.	.	20810650|20801936|18995830|18160036|12670948|9734811	.	.	.	.	.	.	.	PP3
M	16	1551674	rs367975943	G	A	222	PASS	TELO2	telomere maintenance 2	exonic	NM_016111	.	missense SNV	TELO2:NM_016111:exon11:c.G1372A:p.V458I	ENST00000262319.6	.	16p13.3	.	.	.	.	.	rs367975943	.	.	0	0.002	0.000399361	.	6.739e-05	0.0009	.	.	0.152,T	0.004,B	0.01,B	1,N	0.114326,N	0.695,N	-1.58,D	6.0734	-0.856	-0.190	.	.	AC=1;AN=2;BQB=0.876685;DP4=32,17,31,16;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.55968;SF=20;SGB=-0.693147;VDB=0.325571	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:96:47:255,0,255	.	.	.	.	G	A	0	1	Telomere maintenance 2, S. cerevisiae, homolog of	.	.	.	20810650|20801936|18995830|18160036|12670948|9734811	.	.	.	.	.	.	.	
L	16	1575914	rs374793763	G	A	148	PASS	IFT140	intraflagellar transport 140	exonic	NM_014714	.	synonymous SNV	IFT140:NM_014714:exon21:c.C2742T:p.S914S	ENST00000426508.2,ENST00000361339.5	.	16p13.3	.	.	Score=810;Name=V$AP4_01	.	.	rs374793763	.	.	0.00664452	0.005	0.000998403	.	0.0009	0.0237	0.00664452	0.00664452	.	.	.	.	.	.	.	.	-0.533	-0.531	.	.	AC=2;AN=4;BQB=0.891517;DP4=12,0,16,2;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.950952;MQSB=1;RPB=0.950952;SF=15,20;SGB=-0.590765;VDB=0.930466	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:5:164,0,143	.	.	.	.	0/1:19:13:199,0,103	.	.	.	.	G	A	0	2	Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)	.	.	.	24009529|23418020|22503633|9628581	.	.	.	.	.	.	.	
L	16	1825370	rs373784892	C	G	222	PASS	EME2	essential meiotic structure-specific endonuclease subunit 2	exonic	NM_001257370	.	synonymous SNV	EME2:NM_001257370:exon5:c.C624G:p.A208A	ENST00000307394.7,ENST00000568449.1	.	16p13.3	.	.	.	.	.	rs373784892	.	.	0	0.001	0.000199681	.	7.719e-05	0.0008	.	.	.	.	.	.	.	.	.	.	-0.608	-0.208	.	.	AC=1;AN=2;BQB=0.958467;DP4=48,18,27,22;DP=161;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.968131;SF=20;SGB=-0.693147;VDB=0.432533	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:115:49:255,0,255	.	.	.	.	C	G	0	1	Essential meiotic endonuclease 1, S. pombe, homolog of, 2	.	.	.	17289582|12721304	.	.	.	.	.	.	.	
L	16	2048827	rs746152922	G	A	222	PASS	ZNF598	zinc finger protein 598	exonic	NM_178167	.	missense SNV	ZNF598:NM_178167:exon13:c.C2237T:p.A746V	ENST00000431526.1,ENST00000562103.1,ENST00000563630.1	.	16p13.3	.	.	.	Score=0.944882;Name=chr9:90558607	.	rs746152922	.	.	.	.	.	.	.	.	.	.	0.262,T	0.285,B	0.975,D	0.768161,D	0.011965,N	2.2,M	2.17,T	18.409	2.585	5.975	4.274880,24.0	5.49	AC=1;AN=2;BQB=0.263543;DP4=34,7,36,7;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.983315;MQSB=0.915545;RPB=0.413564;SF=20;SGB=-0.693146;VDB=0.3241	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:84:43:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	16	2369572	rs139685797	G	A	222	PASS	ABCA3	ATP-binding cassette, sub-family A (ABC1), member 3	splicing	NM_001089	NM_001089:exon8:c.873+10C>T	.	.	ENST00000382381.3,ENST00000301732.5	.	16p13.3	.	.	.	.	.	rs139685797	.	.	0.00166113	0.005	0.000998403	.	0.0005	0.0059	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-1.353	-1.176	.	.	AC=1;AN=2;BQB=0.937083;DP4=22,6,25,3;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.974027;MQSB=0.994973;RPB=0.710059;SF=20;SGB=-0.693054;VDB=0.0349365	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:28:255,0,255	.	.	.	.	G	A	0	1	Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)	.	.	.	23881110|22434821|18317237|17719949|17577581|17267394|15465012|15369786|15044640|11940594|11718719|9635425|9027511|8706931	ESTABLISHMENT_OF_LOCALIZATION;RESPONSE_TO_CHEMICAL_STIMULUS;TRANSPORT;RESPONSE_TO_DRUG	MEMBRANE_BOUND_VESICLE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;VESICLE;CELL_FRACTION;CYTOPLASMIC_VESICLE;INTEGRAL_TO_MEMBRANE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;SECRETORY_GRANULE;PLASMA_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;PURINE_RIBONUCLEOTIDE_BINDING;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES;ATP_BINDING	KEGG_ABC_TRANSPORTERS	PID_ERA_GENOMIC_PATHWAY	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
H	16	2580434	rs185302486	G	A	222	PASS	CEMP1,AMDHD2	amidohydrolase domain containing 2	exonic	NM_001048212,NM_001145815	.	missense SNV	CEMP1:NM_001048212:exon1:c.C641T:p.P214L,AMDHD2:NM_001145815:exon11:c.G1459A:p.G487R	ENST00000382350.1,ENST00000302956.4,ENST00000565570.1,ENST00000567119.1,ENST00000565480.1,ENST00000413459.3	.	16p13.3	.	.	.	.	.	rs185302486	.	.	0.00166113	0.001	0.000199681	.	2.522e-05	0	0.00166113	0.00166113	.	0.006,B	0.02,B	1,N	.	0,N	0.41,T	3.551	-0.736	-0.035	1.510338,13.37	.	AC=1;AN=2;BQB=0.766283;DP4=34,27,36,23;DP=159;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.673112;SF=20;SGB=-0.693147;VDB=0.016826	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:120:59:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	.	.	
H	16	2983123	rs147737914	T	C	223.5	PASS	FLYWCH1	FLYWCH-type zinc finger 1	splicing	NM_001308068,NM_020912,NM_032296	NM_001308068:exon5:c.797-8T>C;NM_020912:exon5:c.794-8T>C;NM_032296:exon5:c.794-8T>C	.	.	ENST00000253928.9,ENST00000416288.2,ENST00000399667.2	.	16p13.3	.	.	.	.	.	rs147737914	.	.	0.0149502	0.0238	0.00479233	.	0.0024	0.0287	0.0122511631853	0.0132211777644	.	.	.	.	.	.	.	.	-0.853	-1.111	.	.	AC=5;AN=8;BQB=0.889558;DP4=82,29,101,34;DP=357;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.100292;SF=7,15,20,23;SGB=-0.693079;VDB=0.0194119	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:61:29:255,0,255	.	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	.	1/1:53:53:255,160,0	.	.	0/1:95:36:255,0,255	.	T	C	1	3	.	.	.	.		.	.	.	.	.	.	.	
L	16	3063540	rs372231955	G	C	222	PASS	CLDN9	claudin 9	exonic	NM_020982	.	synonymous SNV	CLDN9:NM_020982:exon1:c.G177C:p.T59T	ENST00000445369.2	.	16p13.3	.	.	.	.	.	rs372231955	.	.	.	.	.	.	5.791e-05	0	.	.	.	.	.	.	.	.	.	.	-5.301	-6.978	.	.	AC=1;AN=2;BQB=0.929027;DP4=12,12,10,7;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.803452;SF=20;SGB=-0.690438;VDB=0.417749	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:17:255,0,255	.	.	.	.	G	C	0	1	Claudin 9	.	.	.		CALCIUM_INDEPENDENT_CELL_CELL_ADHESION;CELL_CELL_ADHESION	CELL_JUNCTION;MEMBRANE_PART;TIGHT_JUNCTION;INTERCELLULAR_JUNCTION;MEMBRANE;APICAL_JUNCTION_COMPLEX;APICOLATERAL_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	IDENTICAL_PROTEIN_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_TIGHT_JUNCTION;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_CELL_CELL_JUNCTION_ORGANIZATION;REACTOME_TIGHT_JUNCTION_INTERACTIONS;REACTOME_CELL_JUNCTION_ORGANIZATION	PM2
L	16	4837623	rs545471691	G	C	222	PASS	SEPT12	septin 12	exonic	NM_001154458,NM_144605	.	synonymous SNV	SEPT12:NM_001154458:exon2:c.C24G:p.P8P,SEPT12:NM_144605:exon2:c.C24G:p.P8P	ENST00000396693.5,ENST00000268231.8,ENST00000591861.1	.	16p13.3	.	.	.	.	.	rs545471691	.	.	0	0.001	0.000199681	.	0.0002	0.0018	.	0.00434783	.	.	.	.	.	.	.	.	-0.316	0.050	.	.	AC=1;AN=2;BQB=0.969538;DP4=11,27,12,24;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.358194;SF=20;SGB=-0.693139;VDB=0.036964	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:36:255,0,255	.	.	.	.	G	C	0	1	Spermatogenic failure 10, 614822 (3)	.	.	.	22479503|22275165|20801438|17685441|17074343|15915442	.	.	.	.	.	.	.	
H	16	4940856	rs547713534	C	T	188	PASS	PPL	periplakin	exonic	NM_002705	.	missense SNV	PPL:NM_002705:exon17:c.G2035A:p.A679T	ENST00000590782.2,ENST00000345988.2	.	16p13.3	.	.	.	.	.	rs547713534	.	.	0.00166113	0.002	0.000399361	.	0.0003	0.0059	0.00306278537519	0.00240384754808	0.482,T	0.001,B	0.0,B	0.937817,N	0.008230,N	1.21,L	1.36,T	9.8653	1.433	1.460	2.303389,18.19	3.14	AC=1;AN=2;BQB=0.67135;DP4=8,13,3,8;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.909156;SF=20;SGB=-0.676189;VDB=0.266813	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:11:222,0,255	.	.	.	.	C	T	0	1	Periplakin	.	.	.	15226441|12366696|10051401|9570964|9521878|9412476	.	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	.	
H	16	8619960	.	C	A	222	PASS	TMEM114	transmembrane protein 114	exonic	NM_001146336,NM_001290095,NM_001290097	.	unknown	UNKNOWN	ENST00000568335.1	CpG: 21	16p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589,P	0.821,P	.	.	2.585,M	.	16.8241	2.214	4.466	3.477473,23.1	4.79	AC=1;AN=2;BQB=0.847588;DP4=13,7,17,11;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.890769;SF=20;SGB=-0.693054;VDB=0.747629	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:28:255,0,255	.	.	.	.	C	A	0	1	Transmembrane protein 114	.	.	.	17492639	.	.	.	.	.	.	.	PM2
L	16	9030444	rs1382390	C	A	226.68	PASS	USP7	ubiquitin specific peptidase 7 (herpes virus-associated)	exonic	NM_001286457	.	synonymous SNV	USP7:NM_001286457:exon1:c.G27T:p.L9L	ENST00000381886.4,ENST00000344836.4,ENST00000535863.1	.	16p13.2	.	.	.	.	.	rs1382390	.	.	0.00996678	0.0099	0.00219649	.	0.0008	0.0123	0.00996678	0.00961538588942	.	.	.	.	.	.	.	.	-0.574	0.180	.	.	AC=49,1;AN=50;DP4=0,0,601,159;DP=1058;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69311;VDB=0.0240151	GT:DP:DV:PL	1/1:31:31:255,93,0,.,.,.	1/1:19:19:255,57,0,.,.,.	1/1:25:25:255,75,0,.,.,.	1/1:36:36:255,108,0,.,.,.	1/1:25:25:255,75,0,.,.,.	1/1:48:48:255,144,0,.,.,.	1/1:22:22:255,66,0,.,.,.	1/1:44:44:255,132,0,.,.,.	1/1:27:27:255,81,0,.,.,.	1/1:22:22:255,66,0,.,.,.	1/1:44:44:255,132,0,.,.,.	1/1:33:33:255,99,0,.,.,.	1/1:15:15:255,45,0,.,.,.	1/1:36:36:255,108,0,.,.,.	1/2:36:36:255,255,255,255,0,255	1/1:28:28:255,84,0,.,.,.	1/1:40:40:255,120,0,.,.,.	1/1:26:26:255,78,0,.,.,.	1/1:23:23:255,69,0,.,.,.	1/1:28:28:255,84,0,.,.,.	1/1:22:22:255,66,0,.,.,.	1/1:43:43:255,129,0,.,.,.	1/1:13:13:255,39,0,.,.,.	1/1:35:35:255,105,0,.,.,.	1/1:39:39:255,117,0,.,.,.	C	G,A	24	1	Ubiquitin-specific protease-7, herpes virus-associated	.	.	.	23011223|22466611|18716620|15916963|14506283|12507430|11923872|11279055|9925944|9428630|9130697	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;UBIQUITIN_CYCLE	NUCLEUS	CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;PEPTIDASE_ACTIVITY;CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	PID_FOXOPATHWAY;PID_P53REGULATIONPATHWAY	.	.	
H	16	11348977	rs767035200	G	A	222	PASS	SOCS1	suppressor of cytokine signaling 1	exonic	NM_003745	.	missense SNV	SOCS1:NM_003745:exon2:c.C359T:p.A120V	ENST00000572173.1,ENST00000332029.2	CpG: 202	16p13.13	.	.	Score=808;Name=V$YY1_02	.	.	rs767035200	.	.	.	.	.	.	5.713e-05	0.0006	.	.	0.228,T	0.262,B	0.392,B	1,D	0.156430,N	1.23,L	-2.42,D	15.6933	2.176	4.674	2.333881,18.39	4.19	AC=1;AN=2;BQB=0.747936;DP4=21,13,25,10;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.935191;SF=20;SGB=-0.693136;VDB=0.162808	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:69:35:255,0,255	.	.	.	.	G	A	0	1	Suppressor of cytokine signaling 1	.	.	.	23601686|21685897|18172216|16717119|16357940|15197228|12682261|12601549|12588885|12355068|12163497|11782537|11445538|11326271|11322203|10490100|10490099|9919312|9826711|9419338|9341160|9202126|9202125|7796808	NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;JAK_STAT_CASCADE;INSULIN_RECEPTOR_SIGNALING_PATHWAY;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;SIGNAL_TRANSDUCTION;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_PHOSPHORYLATION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;NEGATIVE_REGULATION_OF_PHOSPHORYLATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;PEPTIDYL_TYROSINE_PHOSPHORYLATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;PEPTIDYL_TYROSINE_MODIFICATION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_JAK_STAT_CASCADE;REGULATION_OF_METABOLIC_PROCESS;CYTOKINE_AND_CHEMOKINE_MEDIATED_SIGNALING_PATHWAY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;NEGATIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;TYROSINE_PHOSPHORYLATION_OF_STAT_PROTEIN;INTRACELLULAR_SIGNALING_CASCADE;NEGATIVE_REGULATION_OF_PHOSPHATE_METABOLIC_PROCESS	CYTOPLASM	KINASE_BINDING;ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_INHIBITOR_ACTIVITY;INSULIN_LIKE_GROWTH_FACTOR_RECEPTOR_BINDING;KINASE_INHIBITOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;RECEPTOR_BINDING;PROTEIN_KINASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_BINDING;ENZYME_BINDING	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_TYPE_II_DIABETES_MELLITUS	PID_IL4_2PATHWAY;PID_IL12_2PATHWAY;PID_IL2_1PATHWAY;PID_IFNGPATHWAY;PID_KITPATHWAY	BIOCARTA_GH_PATHWAY;BIOCARTA_IL2RB_PATHWAY	REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_GROWTH_HORMONE_RECEPTOR_SIGNALING;REACTOME_REGULATION_OF_KIT_SIGNALING;REACTOME_REGULATION_OF_IFNG_SIGNALING;REACTOME_INTERFERON_GAMMA_SIGNALING;REACTOME_INTERFERON_ALPHA_BETA_SIGNALING;REACTOME_REGULATION_OF_IFNA_SIGNALING;REACTOME_INTERFERON_SIGNALING;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	
L	16	15457642	rs374611437	G	C	134.14	PASS	NPIPA5	nuclear pore complex interacting protein family, member A5	exonic	NM_001277325	.	synonymous SNV	NPIPA5:NM_001277325:exon8:c.C927G:p.A309A	ENST00000360151.4	.	16p13.11	.	.	.	Score=0.991345;Name=chr16:16471464	.	rs374611437	.	.	.	.	.	.	0.0039	0.0005	.	0.0130435	.	.	.	.	.	.	.	.	.	0.075	.	.	AC=22;AN=38;BQB=0.284477;DP4=575,185,417,64;DP=1693;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.00118809;MQSB=0.182348;RPB=2.08072e-12;SF=0,1,3,4,5,6,7,8,9,10,12,13,14,15,16,19,20,23,24;SGB=-0.693139;VDB=7.52351e-12	GT:DP:DV:PL	0/1:117:36:171,0,255	0/1:90:17:58,0,255	.	0/1:17:14:205,0,29	0/1:21:13:152,0,111	0/1:46:39:213,0,27	0/1:96:27:131,0,255	0/1:87:27:136,0,255	0/1:56:46:226,0,23	1/1:30:29:255,75,0	0/1:111:32:183,0,255	.	0/1:16:11:207,0,40	0/1:108:25:117,0,255	0/1:85:21:137,0,255	0/1:40:34:245,0,23	0/1:107:35:145,0,255	.	.	1/1:26:23:190,6,0	0/1:70:13:102,0,255	.	.	0/1:100:24:140,0,255	1/1:18:15:176,19,0	G	C	3	16	.	.	.	.		.	.	.	.	.	.	.	
H	16	19516398	rs2072086	C	T	222	PASS	GDE1	glycerophosphodiester phosphodiesterase 1	exonic	NM_016641	.	missense SNV	GDE1:NM_016641:exon5:c.G653A:p.R218Q	ENST00000353258.3	.	16p12.3	.	.	.	.	.	rs2072086	.	.	0	0.0139	0.00279553	7.7e-05	0.0003	0.0039	0.00142045	.	0.405,T	0.004,B	0.004,B	0.932669,N	0.059671,N	0.465,N	2.79,T	9.2607	-0.401	1.481	1.715174,14.49	.	AC=1;AN=2;BQB=0.776837;DP4=6,3,5,7;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.461461;SF=20;SGB=-0.680642;VDB=0.00306566	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:12:255,0,255	.	.	.	.	C	T	0	1	Glycerophosphodiester phosphodiesterase 1	.	.	.	10760272|10493829	LIPID_METABOLIC_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY	.	.	.	.	
H	16	19639972	rs567680668	G	A	222	PASS	C16orf62	chromosome 16 open reading frame 62	exonic	NM_001300743,NM_020314	.	missense SNV	C16orf62:NM_001300743:exon15:c.G1463A:p.R488Q,C16orf62:NM_020314:exon17:c.G1664A:p.R555Q	ENST00000251143.5,ENST00000542263.1,ENST00000438132.3,ENST00000448695.1,ENST00000543152.1,ENST00000417362.2	.	16p12.3	.	.	.	.	.	rs567680668	.	.	0.00332226	0.003	0.000599042	.	0.0001	0.0013	0.00332226	0.00332226	0.02,D	0.374,B	0.948,P	0.999985,D	0.000004,D	1.5,L	1.58,T	19.4515	2.683	4.953	4.750987,24.7	5.7	AC=1;AN=2;BQB=0.491386;DP4=6,3,8,1;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.517436;SF=20;SGB=-0.662043;VDB=0.0538244	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:9:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	20348669	.	C	G	222	PASS	UMOD	uromodulin	exonic	NM_001008389,NM_001278614,NM_003361	.	missense SNV	UMOD:NM_001008389:exon8:c.G1684C:p.V562L,UMOD:NM_003361:exon8:c.G1684C:p.V562L,UMOD:NM_001278614:exon9:c.G1783C:p.V595L	ENST00000570331.1,ENST00000396142.2,ENST00000570689.1,ENST00000396134.2,ENST00000302509.4,ENST00000424589.1,ENST00000396138.4	.	16p12.3	.	.	Score=781;Name=V$ER_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165,T	0.999,D	1.0,D	0.989221,D	0.000249,D	1.965,M	-1.83,D	17.1604	2.614	3.292	5.409738,26.0	5.62	AC=1;AN=2;BQB=0.995121;DP4=4,6,9,3;DP=29;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.419134;SF=20;SGB=-0.680642;VDB=0.615779	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:255,0,255	.	.	.	.	C	G	0	1	Hyperuricemic nephropathy, familial juvenile 1, 162000 (3); Medullary cystic kidney disease 2, 603860 (3); Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)	.	.	.	22117067|20472742|20172860|19465746|16883323|15589826|15522986|15327412|14907962|14665435|14570709|14569098|12634862|12629136|12471200|12205338|10780922|9686952|9605864|8382593|8179291|4933557|4891482|3453112|2409603	DEFENSE_RESPONSE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELLULAR_DEFENSE_RESPONSE;REGULATION_OF_CELL_PROLIFERATION	MEMBRANE_PART;MEMBRANE;EXTRINSIC_TO_MEMBRANE	.	.	.	.	.	PM2
L	16	21747633	rs464696	A	C	88.59	PASS	OTOA	otoancorin	exonic	NM_001161683,NM_144672,NM_170664	.	missense SNV	OTOA:NM_170664:exon12:c.A1381C:p.T461P,OTOA:NM_001161683:exon17:c.A2116C:p.T706P,OTOA:NM_144672:exon21:c.A2353C:p.T785P	ENST00000388956.4,ENST00000286149.4,ENST00000388958.3,ENST00000388957.3	.	16p12.2	.	.	.	Score=0.994427;Name=chr16:22556551	.	rs464696	CLINSIG=Uncertain significance;CLNDBN=not_specified;CLNACC=RCV000202722.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0017	0.0127	0.0397727	0.108696	1.0,T	0.0,B	0.0,B	1,N	0.008262,N	-2.625,N	0.02,T	9.2983	0.970	1.088	.	4.18	AC=12;AN=24;BQB=0.841529;DP4=593,88,208,14;DP=1255;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.015882;MQSB=0.950426;RPB=0.811584;SF=1,2,4,6,8,10,13,18,19,20,23,24;SGB=-0.670168;VDB=0.767716	GT:DP:DV:PL	.	0/1:70:10:81,0,255	0/1:60:17:155,0,255	.	0/1:85:31:228,0,255	.	0/1:80:32:168,0,255	.	0/1:58:13:95,0,255	.	0/1:74:18:95,0,255	.	.	0/1:72:14:111,0,255	.	.	.	.	0/1:89:19:71,0,255	0/1:66:16:121,0,255	0/1:89:19:134,0,255	.	.	0/1:79:17:103,0,255	0/1:81:16:124,0,255	A	C	0	12	Deafness, autosomal recessive 22, 607039 (3)	.	.	.	23173898|19888295|11972037	.	.	.	.	.	.	.	
L	16	21747639	rs200988634	G	T	93.98	PASS	OTOA	otoancorin	exonic	NM_001161683,NM_144672,NM_170664	.	stopgain	OTOA:NM_170664:exon12:c.G1387T:p.E463X,OTOA:NM_001161683:exon17:c.G2122T:p.E708X,OTOA:NM_144672:exon21:c.G2359T:p.E787X	ENST00000388956.4,ENST00000286149.4,ENST00000388958.3,ENST00000388957.3	.	16p12.2	.	.	.	Score=0.994427;Name=chr16:22556551	.	rs200988634	CLINSIG=Uncertain significance;CLNDBN=not_specified;CLNACC=RCV000202954.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0012	0.0109	0.0454545	0.113043	.	.	.	1,A	0.001261,N	.	.	11.8412	2.143	4.878	11.841325,38	4.18	AC=12;AN=24;BQB=0.664522;DP4=613,100,232,12;DP=1326;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.0209425;MQSB=0.953687;RPB=0.8197;SF=1,2,4,6,8,10,13,18,19,20,23,24;SGB=-0.676189;VDB=0.783668	GT:DP:DV:PL	.	0/1:74:11:82,0,255	0/1:65:19:162,0,255	.	0/1:96:35:228,0,255	.	0/1:89:38:180,0,255	.	0/1:64:18:133,0,255	.	0/1:78:17:78,0,255	.	.	0/1:75:15:140,0,255	.	.	.	.	0/1:93:20:71,0,255	0/1:65:15:93,0,255	0/1:92:22:155,0,255	.	.	0/1:82:17:104,0,255	0/1:84:17:122,0,255	G	T	0	12	Deafness, autosomal recessive 22, 607039 (3)	.	.	.	23173898|19888295|11972037	.	.	.	.	.	.	.	PVS1
H	16	23208605	rs773230579	A	G	153	PASS	SCNN1G	sodium channel, non voltage gated 1 gamma subunit	exonic	NM_001039	.	missense SNV	SCNN1G:NM_001039:exon6:c.A934G:p.I312V	ENST00000563471.1,ENST00000300061.2	.	16p12.2	.	.	.	.	.	rs773230579	.	.	.	.	.	.	1.65e-05	0.0001	.	.	0.127,T	0.027,B	0.039,B	0.808602,N	0.000019,N	1.545,L	-0.08,T	7.5196	0.359	0.661	1.591258,13.80	3.11	AC=1;AN=2;BQB=0.777382;DP4=7,0,7,0;DP=20;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.966012;RPB=0.240074;SF=20;SGB=-0.636426;VDB=0.185086	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:7:186,0,165	.	.	.	.	A	G	0	1	Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)	.	.	.	18507830|16007095|15755736|15077107|11463765|11244092|11231969|10074483|8640238|8617496|8107805|7550319|7490094	ESTABLISHMENT_OF_LOCALIZATION;METAL_ION_TRANSPORT;EXCRETION;TRANSPORT;SODIUM_ION_TRANSPORT;SECRETION;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_TASTE_TRANSDUCTION;KEGG_ALDOSTERONE_REGULATED_SODIUM_REABSORPTION	.	.	.	
H	16	27215438	rs569547646	G	T	222	PASS	KDM8	lysine (K)-specific demethylase 8	exonic	NM_001145348	.	missense SNV	KDM8:NM_001145348:exon1:c.G25T:p.G9W	ENST00000441782.2,ENST00000286096.4,ENST00000380948.2	CpG: 82	16p12.1	.	.	.	.	.	rs569547646	.	.	0.00332226	0.002	0.000399361	.	.	.	.	0.00332226	0.0,D	0.966,D	0.997,D	1,N	.	.	1.65,T	2.7959	-0.214	-1.327	4.258034,23.9	.	AC=1;AN=2;BQB=0.687727;DP4=17,14,17,8;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.862507;SF=20;SGB=-0.692914;VDB=0.311644	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:25:255,0,255	.	.	.	.	G	T	0	1	Jumonji domain-containing protein 5	.	.	.	22375008|17909537|16858412	.	.	.	.	.	.	.	
H	16	28222677	rs201669283	T	G	212.8	PASS	XPO6	exportin 6	splicing	NM_001270940,NM_015171	NM_015171:exon1:c.3+10A>C	.	.	ENST00000304658.5,ENST00000565698.1	.	16p11.2	.	.	.	.	.	rs201669283	.	.	0.00996678	0.0109	0.00219649	.	0.0016	0.0189	0.00765697001531	0.0132211473077	.	.	.	.	.	.	.	.	0.022	0.154	1.026175,10.81	.	AC=5;AN=10;BQB=0.919568;DP4=68,31,66,29;DP=270;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.72831;SF=2,5,12,16,20;SGB=-0.692831;VDB=0.142184	GT:DP:DV:PL	.	.	0/1:45:24:255,0,255	.	.	0/1:69:36:255,0,255	.	.	.	.	.	.	0/1:20:8:213,0,255	.	.	.	0/1:33:16:255,0,255	.	.	.	0/1:27:11:251,0,255	.	.	.	.	T	G	0	5	Exportin 6	.	.	.	14592989|9205841	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;PROTEIN_TARGETING;PROTEIN_EXPORT_FROM_NUCLEUS;NUCLEAR_EXPORT;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;NUCLEOCYTOPLASMIC_TRANSPORT	.	PROTEIN_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY	.	.	.	.	
H	16	28508245	rs13306186	C	G	222	PASS	APOBR	apolipoprotein B receptor	exonic	NM_018690	.	missense SNV	APOBR:NM_018690:exon2:c.C1883G:p.T628R	ENST00000328423.5,ENST00000431282.1,ENST00000564831.1	.	16p11.2	.	.	.	.	.	rs13306186	.	.	0.013289	0.0159	0.00319489	.	0.0027	0.0442	0.0176109993874	0.012019203726	0.6,T	0.0,B	0.0,B	1,N	.	-1.24,N	0.94,T	6.5196	-0.388	-0.418	1.139981,11.43	.	AC=1;AN=2;BQB=0.956406;DP4=48,20,41,17;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.946116;SF=20;SGB=-0.693147;VDB=0.722471	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:126:58:255,0,255	.	.	.	.	C	G	0	1	Apolipoprotein B receptor	.	.	.	10852956	LIPID_METABOLIC_PROCESS	.	LIPOPROTEIN_BINDING	.	.	.	.	
L	16	28619685	rs142537541	G	A	222	PASS	SULT1A1	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	exonic	NM_001055,NM_177529,NM_177530,NM_177534	.	missense SNV	SULT1A1:NM_177534:exon3:c.C299T:p.P100L,SULT1A1:NM_001055:exon4:c.C299T:p.P100L,SULT1A1:NM_177529:exon4:c.C299T:p.P100L,SULT1A1:NM_177530:exon4:c.C299T:p.P100L	ENST00000350842.4,ENST00000314752.7,ENST00000395607.1,ENST00000569554.1,ENST00000395609.1	.	16p11.2	.	.	.	Score=0.948296;Name=chr16:28602133	.	rs142537541	.	.	0.00332226	0.003	0.000599042	0.0005	0.0003	0.0006	0.00332226	0.0036057709375	0.008,D	0.112,B	0.099,B	1,D	0.000758,D	3.605,H	-1.68,D	10.5575	1.566	4.719	2.701370,20.8	2.21	AC=1;AN=2;BQB=0.951713;DP4=33,17,39,13;DP=128;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.984968;MQSB=0.965652;RPB=0.451088;SF=20;SGB=-0.693147;VDB=0.72363	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:52:255,0,255	.	.	.	.	G	A	0	1	Sulfotransferase family 1A, phenol-preferring, member 1	.	.	.	17189289|14871892|12471039|11692076|9854023|9345314|9014197|8912648|8661000|8423770|8288252|7695643|7601475|6964793|6597720|3193032|3162891	NITROGEN_COMPOUND_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS	.	.	KEGG_SULFUR_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES;REACTOME_PHASE_II_CONJUGATION	
H	16	29906727	rs201118298	C	T	222	PASS	SEZ6L2	seizure related 6 homolog (mouse)-like 2	exonic	NM_001114099,NM_001243332,NM_001243333,NM_012410,NM_201575	.	missense SNV	SEZ6L2:NM_001243333:exon4:c.G574A:p.G192R,SEZ6L2:NM_001114099:exon5:c.G496A:p.G166R,SEZ6L2:NM_001243332:exon5:c.G706A:p.G236R,SEZ6L2:NM_012410:exon5:c.G496A:p.G166R,SEZ6L2:NM_201575:exon5:c.G706A:p.G236R	ENST00000537485.1,ENST00000350527.3,ENST00000562159.1,ENST00000308713.5,ENST00000346932.5	.	16p11.2	.	.	Score=917;Name=V$ZIC3_01	.	.	rs201118298	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0015	0.00166113	0.00166113	0.004,D	0.992,D	1.0,D	1,D	0.000179,D	1.79,L	0.97,T	13.9469	1.169	3.346	3.847413,23.4	4.26	AC=1;AN=2;BQB=0.684199;DP4=18,9,19,15;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.912342;SF=20;SGB=-0.693132;VDB=0.797935	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:34:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	30777596	rs769686628	G	A	222	PASS	RNF40	ring finger protein 40, E3 ubiquitin protein ligase	exonic	NM_001207033,NM_001286572,NM_014771	.	missense SNV	RNF40:NM_001207033:exon9:c.G1106A:p.R369H,RNF40:NM_001286572:exon9:c.G1106A:p.R369H,RNF40:NM_014771:exon9:c.G1106A:p.R369H	ENST00000402121.3,ENST00000324685.6,ENST00000357890.5,ENST00000563683.1	.	16p11.2	.	.	.	.	.	rs769686628	.	.	.	.	.	.	5.775e-05	0.0006	.	.	0.057,T	0.002,B	0.004,B	1,D	0.000001,D	0.69,N	1.58,T	9.2118	2.816	5.602	3.922867,23.5	5.94	AC=1;AN=2;BQB=0.979987;DP4=16,9,30,17;DP=96;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.49336;SF=20;SGB=-0.693147;VDB=0.946747	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:72:47:255,0,255	.	.	.	.	G	A	0	1	Ring finger protein 40	.	.	.	12535539|12535538|12121982	.	.	.	.	.	.	.	
L	16	30992062	rs148831220	G	A	222	PASS	SETD1A	SET domain containing 1A	exonic	NM_014712	.	synonymous SNV	SETD1A:NM_014712:exon16:c.G4584A:p.G1528G	ENST00000262519.8	CpG: 27	16p11.2	.	.	.	.	.	rs148831220	.	.	.	.	.	0.0002	2.556e-05	0	.	.	.	.	.	.	.	.	.	.	2.417	1.239	0.971184,10.50	5.21	AC=1;AN=2;BQB=0.521238;DP4=33,26,23,24;DP=141;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999752;SF=20;SGB=-0.693147;VDB=0.426443	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:106:47:255,0,255	.	.	.	.	G	A	0	1	SET domain-containing protein 1A	.	.	.	16253997|12670868|9205841	.	.	.	KEGG_LYSINE_DEGRADATION	.	.	.	PM2
L	16	31474185	rs182524829	T	C	222	PASS	ARMC5	armadillo repeat containing 5	exonic	NM_001105247,NM_001288767,NM_001301820,NM_024742	.	synonymous SNV	ARMC5:NM_001105247:exon3:c.T1317C:p.F439F,ARMC5:NM_024742:exon3:c.T1317C:p.F439F,ARMC5:NM_001301820:exon4:c.T1413C:p.F471F,ARMC5:NM_001288767:exon5:c.T1602C:p.F534F	ENST00000408912.3,ENST00000538189.1,ENST00000457010.2,ENST00000563544.1,ENST00000412665.2,ENST00000268314.4	.	16p11.2	.	.	.	.	.	rs182524829	.	.	0.00996678	0.006	0.00119808	.	0.0004	0.0054	0.00612557595712	0.00996678	.	.	.	.	.	.	.	.	0.293	0.975	.	2.63	AC=1;AN=2;BQB=0.331557;DP4=17,13,15,16;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.948684;SF=20;SGB=-0.69311;VDB=0.506868	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:31:255,0,255	.	.	.	.	T	C	0	1	ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)	.	.	.	24905064|24708098|24601692|24283224	.	.	.	.	.	.	.	
L	16	46650010	rs753553515	G	A	200	PASS	SHCBP1	SHC SH2-domain binding protein 1	exonic	NM_024745	.	synonymous SNV	SHCBP1:NM_024745:exon4:c.C444T:p.Y148Y	ENST00000303383.3	.	16q11.2	.	.	.	.	.	rs753553515	.	.	.	.	.	.	7.419e-05	0.0010	.	.	.	.	.	.	.	.	.	.	0.923	1.766	.	3.13	AC=1;AN=2;BQB=0.984436;DP4=3,14,2,10;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959425;SF=20;SGB=-0.680642;VDB=0.162982	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:12:233,0,255	.	.	.	.	G	A	0	1	SHC SH2 domain-binding protein 1	.	.	.	10086341	.	.	.	.	.	.	.	
M	16	50342240	rs148155774	C	T	222	PASS	ADCY7	adenylate cyclase 7	exonic	NM_001114,NM_001286057	.	missense SNV	ADCY7:NM_001114:exon15:c.C1853T:p.T618M,ADCY7:NM_001286057:exon16:c.C1853T:p.T618M	ENST00000394697.2,ENST00000254235.3,ENST00000538642.1,ENST00000537579.1,ENST00000566433.2	.	16q12.1	.	.	Score=762;Name=V$STAT1_01	.	.	rs148155774	.	.	.	.	.	0.0002	9.065e-05	0	.	.	0.145,T	0.043,B	0.071,B	1,N	0.056946,N	0.07,N	-1.59,D	5.4786	-1.611	-1.317	.	.	AC=1;AN=2;BQB=0.495497;DP4=22,11,21,8;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.309888;SF=20;SGB=-0.693079;VDB=0.178607	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:29:255,0,255	.	.	.	.	C	T	0	1	Adenylate cyclase-7	.	.	.	12503609|8476432|7860067	NUCLEOBASENUCLEOSIDE_AND_NUCLEOTIDE_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_BIOSYNTHETIC_PROCESS;G_PROTEIN_SIGNALING_COUPLED_TO_CAMP_NUCLEOTIDE_SECOND_MESSENGER;G_PROTEIN_SIGNALING_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REGULATION_OF_CATALYTIC_ACTIVITY;NUCLEOTIDE_BIOSYNTHETIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;NUCLEOTIDE_METABOLIC_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;ADENYLATE_CYCLASE_ACTIVATION;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE;CAMP_MEDIATED_SIGNALING	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	PHOSPHORUS_OXYGEN_LYASE_ACTIVITY;LYASE_ACTIVITY;CYCLASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_CHEMOKINE_SIGNALING_PATHWAY;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_GAP_JUNCTION;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_PROGESTERONE_MEDIATED_OOCYTE_MATURATION;KEGG_MELANOGENESIS;KEGG_DILATED_CARDIOMYOPATHY	PID_ENDOTHELINPATHWAY;PID_LYSOPHOSPHOLIPID_PATHWAY;PID_LPA4_PATHWAY;PID_BETACATENIN_NUC_PATHWAY	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_ADENYLATE_CYCLASE_ACTIVATING_PATHWAY;REACTOME_ADENYLATE_CYCLASE_INHIBITORY_PATHWAY;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_PKA_MEDIATED_PHOSPHORYLATION_OF_CREB;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_AQUAPORIN_MEDIATED_TRANSPORT;REACTOME_REGULATION_OF_WATER_BALANCE_BY_RENAL_AQUAPORINS;REACTOME_GABA_B_RECEPTOR_ACTIVATION;REACTOME_GABA_RECEPTOR_ACTIVATION;REACTOME_SIGNALING_BY_FGFR	PM2
H	16	55907799	rs79514658	G	A	222	PASS	CES5A	carboxylesterase 5A	exonic	NM_001143685,NM_001190158,NM_145024	.	missense SNV	CES5A:NM_001143685:exon2:c.C224T:p.P75L,CES5A:NM_145024:exon2:c.C224T:p.P75L,CES5A:NM_001190158:exon3:c.C311T:p.P104L	ENST00000319165.9,ENST00000521992.1,ENST00000520435.1,ENST00000541580.1,ENST00000290567.9,ENST00000518005.1	.	16q12.2	.	.	.	.	.	rs79514658	.	.	0.0249169	0.0238	0.00479233	.	0.0018	0.0227	0.0168453082083	0.0204326602163	0.0,D	1.0,D	1.0,D	1,D	0.004989,N	4.375,H	1.22,T	17.7138	2.861	7.608	5.795260,27.1	5.7	AC=2;AN=4;BQB=0.981969;DP4=14,20,22,19;DP=102;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.63452;SF=0,20;SGB=-0.688148;VDB=0.37356	GT:DP:DV:PL	0/1:34:15:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:26:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	KEGG_DRUG_METABOLISM_OTHER_ENZYMES	PID_E2F_PATHWAY	.	.	
L	16	56536660	rs150384293	T	C	222	PASS	BBS2	Bardet-Biedl syndrome 2	exonic	NM_031885	.	missense SNV	BBS2:NM_031885:exon8:c.A865G:p.I289V	ENST00000568104.1,ENST00000245157.5,ENST00000561951.1	.	16q12.2	.	.	.	.	.	rs150384293	.	.	0.0249169	0.0238	0.0173722	0.0002	0.0094	0.0315	0.0252679836141	0.0216345899038	0.991,T	0.003,B	0.0,B	0.999985,N	0.010014,N	-0.255,N	-2.42,D	20.1837	-1.376	-0.148	.	.	AC=1;AN=2;BQB=0.853587;DP4=19,9,7,11;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979692;SF=20;SGB=-0.691153;VDB=0.454408	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:18:255,0,255	.	.	.	.	T	C	0	1	Bardet-Biedl syndrome 2, 615981 (3); Retinitis pigmentosa 74, 616562 (3)	.	.	.	25541840|22981120|22072986|20618352|20603001|19150989|19081074|18334641|18317593|18299575|17574030|16823392|16582908|15539463|11567139|11285252|8298649	.	.	.	.	.	.	.	
H	16	56913053	rs368455032	G	A	222	PASS	SLC12A3	solute carrier family 12 (sodium/chloride transporter), member 3	exonic	NM_000339,NM_001126107,NM_001126108	.	missense SNV	SLC12A3:NM_000339:exon10:c.G1249A:p.E417K,SLC12A3:NM_001126107:exon10:c.G1246A:p.E416K,SLC12A3:NM_001126108:exon10:c.G1249A:p.E417K	ENST00000563236.1,ENST00000262502.5,ENST00000438926.2,ENST00000566786.1	.	16q13	.	.	.	.	.	rs368455032	.	.	0	.	0.000798722	7.7e-05	0.0001	0.0002	.	.	.	0.322,B	0.812,P	0.990894,N	0.018906,N	1.645,L	.	14.853	1.111	3.080	2.121249,16.99	4.15	AC=1;AN=2;BQB=0.986852;DP4=16,2,12,3;DP=50;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.588086;SF=20;SGB=-0.688148;VDB=0.909085	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:15:255,0,255	.	.	.	.	G	A	0	1	Gitelman syndrome, 263800 (3)	.	.	.	23833262|22009145|20848653|17000984|14766743|11313351|8954067|8900229|8812482|8670281|8617496|8528245|8464884|8021284	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SYMPORTER_ACTIVITY;SECONDARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ANION_CATION_SYMPORTER_ACTIVITY;ANION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	
L	16	57601891	rs115877955	G	A	222	PASS	ADGRG5	adhesion G protein-coupled receptor G5	exonic	NM_001304376,NM_153837	.	synonymous SNV	ADGRG5:NM_001304376:exon9:c.G945A:p.T315T,ADGRG5:NM_153837:exon9:c.G945A:p.T315T	ENST00000349457.3,ENST00000340339.4,ENST00000394361.4	.	16q21	.	.	.	.	.	rs115877955	.	.	0.00332226	0.002	0.000399361	.	0.0004	0.0055	0.00229708830015	0.00332226	.	.	.	.	.	.	.	.	0.207	-0.094	0.985659,10.58	.	AC=1;AN=2;BQB=0.853945;DP4=22,7,21,2;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.609618;SF=20;SGB=-0.692717;VDB=0.711274	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:23:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	57608887	rs114200545	G	A	222	PASS	ADGRG5	adhesion G protein-coupled receptor G5	exonic	NM_001304376,NM_153837	.	missense SNV	ADGRG5:NM_001304376:exon11:c.G1369A:p.V457I,ADGRG5:NM_153837:exon11:c.G1369A:p.V457I	ENST00000349457.3,ENST00000340339.4,ENST00000394361.4	.	16q21	.	.	Score=682;Name=V$P53_01	.	.	rs114200545	.	.	0.00332226	0.002	0.000399361	.	0.0004	0.0053	0.00229708830015	0.00332226	0.068,T	0.334,B	0.811,P	1,N	0.760706,N	1.5,L	0.98,T	4.3194	0.309	-0.537	.	.	AC=1;AN=2;BQB=0.399695;DP4=14,5,20,10;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934064;SF=20;SGB=-0.693097;VDB=0.313711	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:30:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	67236802	rs542132503	C	T	222	PASS	ELMO3	engulfment and cell motility 3	exonic	NM_024712	.	missense SNV	ELMO3:NM_024712:exon16:c.C1729T:p.R577W	ENST00000477898.1,ENST00000360833.1,ENST00000393997.2	.	16q22.1	.	.	.	.	.	rs542132503	.	.	0.00166113	0.001	0.000199681	.	3.353e-05	0.0004	0.00166113	0.00166113	0.0,D	0.983,D	1.0,D	1,D	0.000000,D	2.28,M	0.71,T	12.5204	1.366	0.296	6.859282,33	4.72	AC=1;AN=2;BQB=0.454521;DP4=23,20,17,18;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.191422;SF=20;SGB=-0.693136;VDB=0.292049	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:78:35:255,0,255	.	.	.	.	C	T	0	1	Engulfment and cell motility gene 3	.	.	.	11595183	.	.	.	.	.	.	.	PP3
H	16	67942803	rs201663239	G	A	222	PASS	PSKH1	protein serine kinase H1	exonic	NM_006742	.	missense SNV	PSKH1:NM_006742:exon2:c.G151A:p.G51R	ENST00000291041.5	.	16q22.1	.	.	Score=988;Name=V$STAT3_02	.	.	rs201663239	.	.	0.00166113	0.001	0.000199681	.	0.0003	0.0044	0.00166113	0.00166113	0.239,T	0.005,B	0.019,B	0.632293,D	0.042524,N	1.59,L	-0.27,T	10.4846	1.470	3.005	1.862984,15.36	4.85	AC=1;AN=2;BQB=0.271496;DP4=27,8,37,8;DP=103;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.734495;SF=20;SGB=-0.693147;VDB=0.50398	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:45:255,0,255	.	.	.	.	G	A	0	1	Putative serine kinase H1	.	.	.	12466556|11087665|8268911|2948189	.	.	.	.	.	.	.	
H	16	67964836	rs184748865	G	A	222	PASS	CTRL	chymotrypsin-like	exonic	NM_001907	.	missense SNV	CTRL:NM_001907:exon3:c.C223T:p.H75Y	ENST00000573493.1,ENST00000574481.1,ENST00000576408.1	.	16q22.1	.	.	Score=1000;Name=V$AP2REP_01	.	.	rs184748865	.	.	0.0265781	0.0188	0.00379393	.	0.0011	0.0145	0.0176110374579	0.0265781	0.0,D	1.0,D	1.0,D	1,D	0.145354,N	3.52,H	.	14.147	1.357	6.399	5.886520,27.4	4.34	AC=1;AN=2;BQB=0.970883;DP4=22,9,36,9;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98667;SF=20;SGB=-0.693147;VDB=0.142435	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:45:255,0,255	.	.	.	.	G	A	0	1	Chymotrypsin-like protease	.	.	.	9065485|8268911	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;DIGESTION;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	.	.	
L	16	70211199	rs62052576	T	C	39.83	PASS	CLEC18C	C-type lectin domain family 18, member C	exonic	NM_173619	.	missense SNV	CLEC18C:NM_173619:exon3:c.T272C:p.I91T	ENST00000536907.2,ENST00000314151.8,ENST00000541793.2,ENST00000569347.2,ENST00000561612.1	.	16q22.1	.	.	.	Score=0.990978;Name=chr16:69977498	.	rs62052576	.	.	.	.	.	.	0.0004	0.0009	.	.	0.421,T	0.0,B	0.0,B	1,N	0.349648,N	-0.53,N	3.18,T	7.146	0.405	-0.053	.	3.36	AC=3;AN=6;BQB=0.970653;DP4=218,10,98,5;DP=450;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=3.81286e-09;MQSB=0.306856;RPB=0.561453;SF=6,20,24;SGB=-0.693141;VDB=5.68627e-05	GT:DP:DV:PL	.	.	.	.	.	.	0/1:127:37:84,0,228	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:28:72,0,232	.	.	.	0/1:111:38:66,0,255	T	C	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	16	70211370	rs3869428	C	G	158.62	PASS	CLEC18C	C-type lectin domain family 18, member C	exonic	NM_173619	.	missense SNV	CLEC18C:NM_173619:exon3:c.C443G:p.T148S	ENST00000536907.2,ENST00000314151.8,ENST00000541793.2,ENST00000569347.2,ENST00000561612.1	.	16q22.1	.	.	Score=922;Name=V$MYOD_01	Score=0.990978;Name=chr16:69977498	.	rs3869428	.	.	.	.	.	.	0.0002	0	.	0.00869565	0.221,T	0.008,B	0.003,B	0.999531,N	0.109248,N	0.745,N	3.17,T	10.1296	0.903	1.140	.	2.09	AC=13;AN=26;BQB=0.592197;DP4=345,493,199,249;DP=1696;HOB=0.5;ICB=1;MQ0F=0;MQ=37;MQB=7.70221e-09;MQSB=0.0122867;RPB=0.061044;SF=2,4,5,6,7,11,12,13,18,20,22,23,24;SGB=-0.693021;VDB=6.81296e-05	GT:DP:DV:PL	.	.	0/1:94:27:168,0,255	.	0/1:70:29:202,0,255	0/1:115:85:255,0,216	0/1:122:31:179,0,255	0/1:90:32:240,0,255	.	.	.	0/1:100:23:135,0,255	0/1:123:27:98,0,255	0/1:93:37:255,0,255	.	.	.	.	0/1:75:25:231,0,255	.	0/1:83:22:127,0,255	.	0/1:46:12:131,0,255	0/1:158:44:234,0,255	0/1:117:54:255,0,255	C	G	0	13	.	.	.	.		.	.	.	.	.	.	.	
L	16	72033580	rs60493669	T	A	206.25	PASS	PKD1L3	polycystic kidney disease 1-like 3	splicing	NM_181536	NM_181536:exon1:c.295+3A>T	.	.	ENST00000534738.1	.	16q22.2	.	.	Score=929;Name=V$AREB6_01	.	.	rs60493669	.	.	0.0531561	0.0476	0.0275559	0.0357	0.0457	0.0467	0.0227273	0.0456730555288	.	.	.	.	.	.	.	.	0.965	2.017	.	4.53	AC=4;AN=8;BQB=0.913904;DP4=42,8,47,6;DP=137;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=4,6,20,23;SGB=-0.651104;VDB=0.198441	GT:DP:DV:PL	.	.	.	.	0/1:20:8:204,0,255	.	0/1:20:10:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:19:255,0,229	.	.	0/1:32:16:243,0,255	.	T	A	0	4	Polycystin 1-like 3	.	.	.	16891422|12782129	.	.	.	.	.	.	.	
L	16	74425787	rs375776693	G	T	144.36	PASS	NPIPB15	nuclear pore complex interacting protein family, member B15	exonic	NM_001306094	.	stopgain	NPIPB15:NM_001306094:exon7:c.G1141T:p.E381X	ENST00000429990.1	.	16q23.1	.	.	.	Score=0.989258;Name=chr16:70199132	.	rs375776693	.	.	.	.	.	.	0.0379	0.0243	.	0.0434783	.	.	.	0.99987,D	.	.	.	4.6062	-2.068	-2.048	8.642177,35	.	AC=21;AN=42;BQB=0.570457;DP4=1380,1354,411,239;DP=4586;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.000262542;MQSB=0.010693;RPB=0.155276;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,17,19,20,21,23,24;SGB=-0.692914;VDB=3.29447e-05	GT:DP:DV:PL	0/1:161:25:127,0,255	.	0/1:134:26:185,0,255	0/1:128:31:255,0,255	0/1:146:25:171,0,255	0/1:157:51:255,0,255	0/1:142:27:188,0,255	0/1:152:29:172,0,255	0/1:154:27:175,0,255	0/1:119:18:159,0,255	0/1:171:34:212,0,255	0/1:167:28:125,0,255	0/1:159:22:88,0,255	0/1:153:29:202,0,255	0/1:188:32:172,0,255	0/1:181:27:63,0,255	.	0/1:147:26:168,0,255	.	0/1:172:33:200,0,255	0/1:194:30:113,0,255	0/1:196:46:236,0,255	.	0/1:199:48:255,0,255	0/1:164:36:255,0,255	G	T	0	21	.	.	.	.		.	.	.	.	.	.	.	
L	16	74425793	rs199839508	T	C	146.14	PASS	NPIPB15	nuclear pore complex interacting protein family, member B15	exonic	NM_001306094	.	missense SNV	NPIPB15:NM_001306094:exon7:c.T1147C:p.S383P	ENST00000429990.1	.	16q23.1	.	.	.	Score=0.989258;Name=chr16:70199132	.	rs199839508	.	.	.	.	.	.	0.0320	0.0234	.	0.0434783	0.059,T	0.002,B	0.001,B	0.999895,N	.	.	0.67,T	4.4758	0.000	.	.	.	AC=21;AN=42;BQB=0.999243;DP4=1319,1336,376,262;DP=4439;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=4.97755e-05;MQSB=0.028296;RPB=0.596346;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,17,19,20,21,23,24;SGB=-0.692914;VDB=0.0249564	GT:DP:DV:PL	0/1:155:25:131,0,255	.	0/1:128:25:192,0,255	0/1:132:31:255,0,255	0/1:141:24:187,0,255	0/1:151:49:255,0,255	0/1:139:27:205,0,255	0/1:147:29:176,0,255	0/1:158:29:178,0,255	0/1:120:18:156,0,255	0/1:166:36:236,0,255	0/1:159:27:120,0,255	0/1:151:20:68,0,255	0/1:146:28:212,0,255	0/1:186:31:151,0,255	0/1:176:28:82,0,255	.	0/1:143:26:175,0,255	.	0/1:168:32:193,0,255	0/1:188:30:130,0,255	0/1:187:44:238,0,255	.	0/1:193:47:255,0,255	0/1:159:32:219,0,255	T	C	0	21	.	.	.	.		.	.	.	.	.	.	.	
L	16	74425795	rs764961135	G	A	153.52	PASS	NPIPB15	nuclear pore complex interacting protein family, member B15	exonic	NM_001306094	.	synonymous SNV	NPIPB15:NM_001306094:exon7:c.G1149A:p.S383S	ENST00000429990.1	.	16q23.1	.	.	.	Score=0.989258;Name=chr16:70199132	.	rs764961135	.	.	.	.	.	.	0.0347	0.0262	.	0.0434783	.	.	.	.	.	.	.	.	-0.000	.	.	.	AC=20;AN=40;BQB=0.909106;DP4=1252,1214,355,257;DP=4177;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.000102371;MQSB=0.10395;RPB=0.825723;SF=0,2,3,4,5,6,7,8,9,10,11,13,14,15,17,19,20,21,23,24;SGB=-0.692914;VDB=0.101474	GT:DP:DV:PL	0/1:157:25:126,0,255	.	0/1:126:24:178,0,255	0/1:129:30:255,0,255	0/1:139:24:191,0,255	0/1:148:47:255,0,255	0/1:131:27:235,0,255	0/1:144:30:184,0,255	0/1:151:29:195,0,255	0/1:117:18:162,0,255	0/1:169:34:207,0,255	0/1:156:27:124,0,255	.	0/1:144:29:223,0,255	0/1:181:31:152,0,255	0/1:168:26:70,0,255	.	0/1:142:26:178,0,255	.	0/1:158:30:184,0,255	0/1:185:30:131,0,255	0/1:190:45:241,0,255	.	0/1:192:48:255,0,255	0/1:151:32:233,0,255	G	A	0	20	.	.	.	.		.	.	.	.	.	.	.	
L	16	74425826	rs780007640	G	A	131.02	PASS	NPIPB15	nuclear pore complex interacting protein family, member B15	exonic	NM_001306094	.	missense SNV	NPIPB15:NM_001306094:exon7:c.G1180A:p.A394T	ENST00000429990.1	.	16q23.1	.	.	.	Score=0.989258;Name=chr16:70199132	Score=643;Name="1772808:AluSq2(SINE)"	rs780007640	.	.	.	.	.	.	0.0355	0.0489	.	0.0173913	0.079,T	0.001,B	0.001,B	0.999978,N	.	.	0.83,T	.	0.000	.	.	.	AC=20;AN=40;BQB=0.963261;DP4=972,1012,219,287;DP=3436;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.000104448;MQSB=0.448117;RPB=0.822378;SF=0,2,3,4,5,6,7,8,9,10,11,13,14,15,17,19,20,21,23,24;SGB=-0.692067;VDB=0.555059	GT:DP:DV:PL	0/1:119:20:114,0,255	.	0/1:104:20:129,0,255	0/1:106:32:255,0,255	0/1:120:24:222,0,255	0/1:113:31:255,0,255	0/1:107:22:185,0,255	0/1:108:22:109,0,255	0/1:116:21:143,0,255	0/1:93:15:143,0,255	0/1:140:29:213,0,255	0/1:121:19:72,0,255	.	0/1:120:25:169,0,255	0/1:148:28:137,0,255	0/1:134:25:90,0,255	.	0/1:118:25:183,0,255	.	0/1:141:25:152,0,255	0/1:154:25:129,0,255	0/1:158:35:191,0,255	.	0/1:158:37:221,0,255	0/1:112:26:218,0,255	G	A	0	20	.	.	.	.		.	.	.	.	.	.	.	
H	16	75646460	rs3743600	T	G	223.5	PASS	ADAT1	adenosine deaminase, tRNA-specific 1	exonic	NM_012091	.	missense SNV	ADAT1:NM_012091:exon7:c.A724C:p.T242P	ENST00000307921.3	.	16q23.1	.	.	.	.	.	rs3743600	.	.	0.0249169	0.0208	0.00459265	0.0005	0.0029	0.0349	0.020673817611	0.0228365057692	0.158,T	0.212,B	0.583,P	1,N	0.000000,N	2.42,M	2.49,T	5.4868	-3.158	-6.822	.	.	AC=5;AN=8;BQB=0.946305;DP4=71,34,139,58;DP=427;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.889351;SF=2,5,7,20;SGB=-0.693139;VDB=0.0801368	GT:DP:DV:PL	.	.	0/1:72:36:255,0,255	.	.	0/1:81:43:255,0,255	.	0/1:70:39:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	1/1:79:79:255,238,0	.	.	.	.	T	G	1	3	Adenosine deaminase, tRNA-specific, 1	.	.	.	16141067|11331948|10675613|10430867|9707437	TRNA_PROCESSING;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRNA_METABOLIC_PROCESS;RNA_PROCESSING	.	HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;RNA_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_CYCLIC_AMIDINES;DEAMINASE_ACTIVITY	.	.	.	.	
H	16	76528972	rs757450154	C	T	80	PASS	CNTNAP4	contactin associated protein-like 4	splicing	NM_033401,NM_138994	NM_033401:exon14:c.2236+9C>T;NM_138994:exon13:c.2018+9C>T	.	.	ENST00000478060.1,ENST00000377504.4,ENST00000476707.1,ENST00000469589.1,ENST00000307431.8	.	16q23.1	.	.	.	.	.	rs757450154	.	.	.	.	.	.	6.593e-05	0.0007	.	.	.	.	.	.	.	.	.	.	0.364	-0.333	.	.	AC=1;AN=2;BQB=0.833333;DP4=1,1,1,2;DP=7;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.666667;SF=20;SGB=-0.511536;VDB=0.392388	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:5:3:113,0,82	.	.	.	.	C	T	0	1	Contactin-associated protein-like 4	.	.	.	24870235|16845472|12093160|11214970	.	.	.	.	.	.	.	
H	16	76555216	rs149415686	C	G	222	PASS	CNTNAP4	contactin associated protein-like 4	splicing	NM_033401,NM_138994	NM_033401:exon16:c.2535+9C>G;NM_138994:exon15:c.2317+9C>G	.	.	ENST00000478060.1,ENST00000377504.4,ENST00000476707.1,ENST00000469589.1,ENST00000307431.8	.	16q23.1	.	.	.	.	.	rs149415686	.	.	0	.	0.00738818	0.0070	0.0020	0.0008	.	.	.	.	.	.	.	.	.	.	-0.613	-0.687	1.409405,12.84	.	AC=1;AN=2;BQB=0.98469;DP4=5,9,6,4;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.89609;SF=20;SGB=-0.670168;VDB=0.0150765	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:10:255,0,255	.	.	.	.	C	G	0	1	Contactin-associated protein-like 4	.	.	.	24870235|16845472|12093160|11214970	.	.	.	.	.	.	.	
H	16	76555990	rs775109304	C	T	222	PASS	CNTNAP4	contactin associated protein-like 4	exonic	NM_033401,NM_138994	.	missense SNV	CNTNAP4:NM_138994:exon16:c.C2372T:p.S791L	ENST00000478060.1,ENST00000377504.4,ENST00000476707.1,ENST00000469589.1,ENST00000307431.8	.	16q23.1	.	.	Score=851;Name=V$CHOP_01	.	.	rs775109304	.	.	.	.	.	.	5.798e-05	0.0008	.	.	0.261,T	0.062,B	0.045,B	1,N	0.206073,N	.	0.92,T	5.4904	2.678	0.539	2.803055,21.4	3.91	AC=1;AN=2;BQB=0.386775;DP4=10,5,9,8;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.690438;VDB=0.00132147	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:17:255,0,255	.	.	.	.	C	T	0	1	Contactin-associated protein-like 4	.	.	.	24870235|16845472|12093160|11214970	.	.	.	.	.	.	.	
L	16	82101827	rs8191135	C	T	223.25	PASS	HSD17B2	hydroxysteroid (17-beta) dehydrogenase 2	exonic	NM_002153	.	synonymous SNV	HSD17B2:NM_002153:exon2:c.C318T:p.G106G	ENST00000199936.4,ENST00000567021.1	.	16q23.3	.	.	.	.	.	rs8191135	.	.	0.0548173	0.0526	0.0333466	0.0140	0.0159	0.0379	0.030627881562	0.0420673246394	.	.	.	.	.	.	.	.	-0.026	-1.122	1.531736,13.48	.	AC=5;AN=8;BQB=0.853008;DP4=49,25,66,36;DP=253;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.338935;SF=3,14,18,20;SGB=-0.686358;VDB=0.0859878	GT:DP:DV:PL	.	.	.	0/1:45:14:255,0,255	.	.	.	.	.	.	.	.	.	.	1/1:41:41:255,123,0	.	.	.	0/1:40:21:255,0,255	.	0/1:50:26:255,0,255	.	.	.	.	C	T	1	3	Hydroxysteroid (17-beta) dehydrogenase 2	.	.	.	11061520|10999824|10199776|8099587|7962560|7759109	.	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	.	
L	16	82132040	rs8191246	A	G	223.5	PASS	HSD17B2	hydroxysteroid (17-beta) dehydrogenase 2	exonic	NM_002153	.	stoploss	HSD17B2:NM_002153:exon5:c.A1163G:p.X388W	ENST00000199936.4,ENST00000567021.1	.	16q23.3	.	.	.	.	.	rs8191246	.	.	0.0564784	0.0655	0.0403355	0.0193	0.0137	0.0466	0.0313935647167	0.0432692263221	.	.	.	1,N	.	.	.	2.3299	-0.019	0.250	1.008180,10.71	.	AC=5;AN=8;BQB=0.802047;DP4=25,29,37,35;DP=167;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.825177;SF=3,14,18,20;SGB=-0.690438;VDB=0.468417	GT:DP:DV:PL	.	.	.	0/1:29:17:255,0,255	.	.	.	.	.	.	.	.	.	.	1/1:29:29:255,87,0	.	.	.	0/1:39:15:255,0,255	.	0/1:29:11:255,0,255	.	.	.	.	A	G	1	3	Hydroxysteroid (17-beta) dehydrogenase 2	.	.	.	11061520|10999824|10199776|8099587|7962560|7759109	.	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENDOMEMBRANE_SYSTEM;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	.	KEGG_STEROID_HORMONE_BIOSYNTHESIS	.	.	.	PM4
L	16	85704614	rs574893937	G	A	222	PASS	GSE1	Gse1 coiled-coil protein	exonic	NM_001134473,NM_001278184,NM_014615	.	synonymous SNV	GSE1:NM_001134473:exon14:c.G3117A:p.E1039E,GSE1:NM_001278184:exon14:c.G3210A:p.E1070E,GSE1:NM_014615:exon15:c.G3429A:p.E1143E	ENST00000393243.1,ENST00000405402.2,ENST00000253458.7	.	16q24.1	.	.	Score=899;Name=V$E47_02	.	.	rs574893937	.	.	0.00166113	0.001	0.000199681	.	9.067e-05	0.0013	0.001531391317	0.00166113	.	.	.	1,D	.	.	.	11.8204	0.449	1.570	.	2.98	AC=1;AN=2;BQB=1;DP4=15,0,7,5;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.273507;SF=20;SGB=-0.680642;VDB=0.787081	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:255,0,217	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	16	85743846	rs189450880	G	A	222	PASS	C16orf74	chromosome 16 open reading frame 74	exonic	NM_206967	.	synonymous SNV	C16orf74:NM_206967:exon3:c.C96T:p.H32H	ENST00000602914.1,ENST00000602675.1,ENST00000602758.1,ENST00000602766.1,ENST00000284245.4,ENST00000602583.1,ENST00000602719.1	CpG: 47	16q24.1	.	.	Score=810;Name=V$HMX1_01	.	.	rs189450880	.	.	0.0116279	0.0089	0.00179712	.	0.0012	0.0165	0.00995405644717	0.00961538064904	.	.	.	.	.	.	.	.	2.233	2.372	.	3.79	AC=1;AN=2;BQB=0.409964;DP4=14,6,19,13;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.985774;SF=20;SGB=-0.69312;VDB=0.88117	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:32:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	86601545	rs550350665	G	A	222	PASS	FOXC2	forkhead box C2	exonic	NM_005251	.	missense SNV	FOXC2:NM_005251:exon1:c.G604A:p.D202N	ENST00000320354.4	CpG: 283	16q24.1	.	.	.	.	.	rs550350665	.	.	0.00166113	0.001	0.000199681	.	0.0002	0.0028	0.00306278537519	0.00166113	0.104,T	0.006,B	0.008,B	0.999999,N	0.327409,U	0.345,N	-3.56,D	7.8645	2.071	3.198	1.656326,14.16	3.56	AC=2;AN=4;BQB=0.898424;DP4=35,40,22,35;DP=174;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.511988;SF=2,20;SGB=-0.693097;VDB=0.197722	GT:DP:DV:PL	.	.	0/1:70:30:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:27:255,0,255	.	.	.	.	G	A	0	2	Lymphedema-distichiasis syndrome, 153400 (3); Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)	.	.	.	19500772|18197197|17537911|17372167|16081467|15906099|15744037|15523639|14269895|12719382|12716768|12540636|12485195|12453913|12114478|11694548|11562355|11551504|11499682|11371511|11078474|10767326|10417285|9409679|9169153|9106663|8674414|8325367	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;INSULIN_RECEPTOR_SIGNALING_PATHWAY;SIGNAL_TRANSDUCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_CHEMICAL_STIMULUS;VASCULATURE_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;RESPONSE_TO_HORMONE_STIMULUS;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY;ORGAN_DEVELOPMENT	NUCLEUS	TRANSCRIPTION_ACTIVATOR_ACTIVITY;SEQUENCE_SPECIFIC_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;CHROMATIN_BINDING;DNA_BINDING	.	.	.	.	
H	16	87339436	.	T	C	222	PASS	C16orf95	chromosome 16 open reading frame 95	exonic	NM_001195124,NM_001195125,NM_001256917	.	missense SNV	C16orf95:NM_001195125:exon4:c.A406G:p.S136G,C16orf95:NM_001256917:exon4:c.A361G:p.S121G,C16orf95:NM_001195124:exon6:c.A590G:p.Q197R	ENST00000568879.1,ENST00000567970.1,ENST00000253461.4	.	16q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.019,B	0.046,B	.	0.108665,N	0.55,N	.	2.496	0.080	1.069	2.364508,18.59	.	AC=1;AN=2;BQB=0.604673;DP4=17,9,24,5;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.921411;SF=20;SGB=-0.693079;VDB=0.107279	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:29:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	16	88497992	rs368674617	G	A	222	PASS	ZNF469	zinc finger protein 469	exonic	NM_001127464	.	missense SNV	ZNF469:NM_001127464:exon2:c.G4030A:p.G1344R	ENST00000565624.1,ENST00000437464.1	.	16q24.2	.	.	Score=827;Name=V$SRF_Q6	.	.	rs368674617	.	.	0.00166113	0.001	0.000399361	.	5.212e-05	0.0017	.	0.00166113	0.0,D	0.941,D	0.997,D	1,N	.	0.895,L	2.94,T	9.0816	2.185	1.443	4.287725,24.0	4.75	AC=1;AN=2;BQB=0.391852;DP4=32,22,27,13;DP=130;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0664624;SF=20;SGB=-0.693145;VDB=0.457134	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:94:40:255,0,255	.	.	.	.	G	A	0	1	Brittle cornea syndrome 1, 229200 (3)	.	.	.	21664999|20938016|19661234|18452888|11347906|7387950|5755738	.	.	.	.	.	.	.	
L	16	88498312	rs74032865	C	T	222	PASS	ZNF469	zinc finger protein 469	exonic	NM_001127464	.	synonymous SNV	ZNF469:NM_001127464:exon2:c.C4350T:p.S1450S	ENST00000565624.1,ENST00000437464.1	CpG: 48	16q24.2	.	.	.	.	.	rs74032865	.	.	0.0415282	0.0486	0.0339457	0.0230	0.0182	0.0324	0.015625	0.0396634307692	.	.	.	.	.	.	.	.	-0.301	-1.322	1.535614,13.50	.	AC=4;AN=8;BQB=0.0210231;DP4=177,94,133,115;DP=698;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.533894;SF=4,8,9,20;SGB=-0.693147;VDB=0.27852	GT:DP:DV:PL	.	.	.	.	0/1:146:70:255,0,255	.	.	.	0/1:114:58:255,0,255	0/1:90:42:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:169:78:255,0,255	.	.	.	.	C	T	0	4	Brittle cornea syndrome 1, 229200 (3)	.	.	.	21664999|20938016|19661234|18452888|11347906|7387950|5755738	.	.	.	.	.	.	.	
L	16	88498804	rs117310292	G	A	222	PASS	ZNF469	zinc finger protein 469	exonic	NM_001127464	.	synonymous SNV	ZNF469:NM_001127464:exon2:c.G4842A:p.S1614S	ENST00000565624.1,ENST00000437464.1	CpG: 48	16q24.2	.	.	.	.	.	rs117310292	.	.	0.0415282	0.0486	0.0163738	.	0.0159	0.0385	0.015625	0.0396634307692	.	.	.	.	.	.	.	.	-0.776	-1.239	.	.	AC=4;AN=8;BQB=0.913826;DP4=76,68,94,41;DP=332;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987408;SF=4,8,9,20;SGB=-0.693079;VDB=0.551491	GT:DP:DV:PL	.	.	.	.	0/1:59:29:255,0,255	.	.	.	0/1:66:26:255,0,255	0/1:74:36:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:80:44:255,0,255	.	.	.	.	G	A	0	4	Brittle cornea syndrome 1, 229200 (3)	.	.	.	21664999|20938016|19661234|18452888|11347906|7387950|5755738	.	.	.	.	.	.	.	
L	16	88502090	rs3812955	G	A	222	PASS	ZNF469	zinc finger protein 469	exonic	NM_001127464	.	missense SNV	ZNF469:NM_001127464:exon2:c.G8128A:p.A2710T	ENST00000565624.1,ENST00000437464.1	.	16q24.2	.	.	.	.	.	rs3812955	.	.	0.0398671	0.0476	0.0365415	0.0258	0.0204	0.0341	0.015625	0.0384615290865	0.133,T	0.004,B	0.004,B	1,N	.	0.115,N	3.32,T	6.6294	0.348	0.096	.	2.59	AC=5;AN=10;BQB=0.893493;DP4=208,92,190,68;DP=716;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.944459;SF=4,8,9,19,20;SGB=-0.693147;VDB=0.199325	GT:DP:DV:PL	.	.	.	.	0/1:104:52:255,0,255	.	.	.	0/1:103:50:255,0,255	0/1:84:40:255,0,255	.	.	.	.	.	.	.	.	.	0/1:131:59:255,0,255	0/1:136:57:255,0,255	.	.	.	.	G	A	0	5	Brittle cornea syndrome 1, 229200 (3)	.	.	.	21664999|20938016|19661234|18452888|11347906|7387950|5755738	.	.	.	.	.	.	.	
L	16	88665036	rs114252967	G	A	171.5	PASS	ZC3H18	zinc finger CCCH-type containing 18	exonic	NM_001294340,NM_144604	.	synonymous SNV	ZC3H18:NM_144604:exon5:c.G846A:p.P282P,ZC3H18:NM_001294340:exon6:c.G918A:p.P306P	ENST00000301011.5,ENST00000452588.2	.	16q24.2	.	.	Score=789;Name=V$PAX4_04	.	.	rs114252967	.	.	0.0116279	0.0099	0.00199681	.	0.0011	0.0131	0.00918835672282	0.00961538064904	.	.	.	.	.	.	.	.	-1.045	-0.940	1.236071,11.94	.	AC=2;AN=4;BQB=0.199936;DP4=23,11,21,7;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898706;SF=20,22;SGB=-0.692562;VDB=0.0598252	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:22:255,0,255	.	0/1:22:6:155,0,255	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	16	88793562	rs373706590	G	C	222	PASS	PIEZO1	piezo-type mechanosensitive ion channel component 1	exonic	NM_001142864	.	missense SNV	PIEZO1:NM_001142864:exon24:c.C3340G:p.Q1114E	ENST00000301015.9	CpG: 57	16q24.3	.	.	Score=897;Name=V$E47_02	.	.	rs373706590	.	.	0.00664452	0.004	0.000798722	.	0.0001	0.0027	.	0.00721153911058	0.098,T	0.044,B	0.294,B	0.748492,D	0.000289,D	1.07,L	-0.74,T	10.8816	2.497	3.284	1.505372,13.34	4.82	AC=2;AN=4;BQB=1;DP4=17,22,10,27;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.261283;SF=18,20;SGB=-0.688148;VDB=0.461944	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:15:255,0,255	.	0/1:46:22:255,0,255	.	.	.	.	G	C	0	2	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)	.	.	.	23695678|23479567|22529292|22343900|22343891|21944700|20813920|18377960|17253968|16898969|16854388|11001917|9827909|9718354|9039502|5559828|89283	.	.	.	.	.	.	.	
H	16	88926388	rs28444630	C	T	51	PASS	TRAPPC2L	trafficking protein particle complex 2-like	splicing	NM_016209	NM_016209:exon4:c.374+8C>T	.	.	ENST00000564365.1,ENST00000565504.1,ENST00000567312.1,ENST00000301021.3,ENST00000568583.1,ENST00000561840.1,ENST00000567895.1	.	16q24.3	.	.	.	.	.	rs28444630	.	.	.	.	.	.	5.844e-05	0	.	.	.	.	.	.	.	.	.	.	0.988	0.557	0.949328,10.37	.	AC=1;AN=2;BQB=0.727117;DP4=40,45,6,8;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=8.07174e-07;SF=20;SGB=-0.686358;VDB=5.32238e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:14:87,0,255	.	.	.	.	C	T	0	1	Trafficking protein particle complex 2-like	.	.	.	21525244|11042152	.	.	.	.	.	.	.	PM2
H	16	89016663	rs58742532	A	G	215.45	PASS	LOC100129697	uncharacterized LOC100129697	splicing	NM_001290330	NM_001290330:exon2:c.139-2A>G	.	.	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs58742532	.	.	.	.	.	.	0.0009	0.0054	.	0.0217391	.	.	.	.	.	.	.	1.4587	-1.883	-1.512	.	.	AC=11;AN=22;BQB=0.930284;DP4=364,157,234,97;DP=1434;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.787727;MQSB=0.0858068;RPB=0.000200829;SF=0,3,4,8,9,12,14,16,18,20,21;SGB=-0.692976;VDB=0.00387847	GT:DP:DV:PL	0/1:87:26:255,0,255	.	.	0/1:82:44:255,0,255	0/1:78:27:229,0,255	.	.	.	0/1:67:26:255,0,255	0/1:41:33:255,0,68	.	.	0/1:83:34:255,0,255	.	0/1:94:33:255,0,255	.	0/1:58:17:255,0,255	.	0/1:65:23:255,0,255	.	0/1:87:34:255,0,255	0/1:110:34:218,0,255	.	.	.	A	G	0	11	.	.	.	.		.	.	.	.	.	.	.	
H	16	89016677	rs71395347	G	C	133.12	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	missense SNV	LOC100129697:NM_001290330:exon2:c.G151C:p.V51L	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs71395347	.	.	.	.	.	.	0.0001	0	.	0.00434783	.	.	.	0.999896,D	.	.	.	5.844	0.064	0.247	.	.	AC=9;AN=18;BQB=0.479913;DP4=411,208,114,62;DP=1153;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.898397;MQSB=0.131205;RPB=0.000242855;SF=0,4,8,9,12,14,16,18,20;SGB=-0.690438;VDB=0.0010256	GT:DP:DV:PL	0/1:101:17:161,0,255	.	.	.	0/1:88:15:62,0,255	.	.	.	0/1:91:23:183,0,255	0/1:50:18:216,0,255	.	.	0/1:99:24:201,0,255	.	0/1:106:24:198,0,255	.	0/1:80:13:132,0,255	.	0/1:72:17:167,0,255	.	0/1:108:25:192,0,255	.	.	.	.	G	C	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	16	89016829	rs372588664	G	C	222	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	synonymous SNV	LOC100129697:NM_001290330:exon2:c.G303C:p.P101P	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs372588664	.	.	0.0149502	0.0198	0.00419329	.	0.0022	0.0340	.	0.0149502	.	.	.	.	.	.	.	.	0.119	-1.061	.	.	AC=1;AN=2;BQB=0.694977;DP4=48,21,24,17;DP=155;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=0.992002;MQSB=0.582085;RPB=0.232055;SF=20;SGB=-0.693145;VDB=0.322672	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:110:41:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	16	89017483	rs200170070	C	G	46.43	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	synonymous SNV	LOC100129697:NM_001290330:exon2:c.C957G:p.P319P	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs200170070	.	.	.	.	.	.	0.0044	0.0051	.	.	.	.	.	.	.	.	.	.	0.064	0.004	.	.	AC=3;AN=6;BQB=0.803021;DP4=120,69,24,34;DP=372;HOB=0.5;ICB=1;MQ0F=0;MQ=44;MQB=0.00099035;MQSB=0.218226;RPB=0.0237872;SF=0,8,20;SGB=-0.683931;VDB=0.827881	GT:DP:DV:PL	0/1:63:13:59,0,255	.	.	.	.	.	.	.	0/1:57:12:74,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:127:33:113,0,255	.	.	.	.	C	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	16	89017486	rs750866834	C	G	69	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	synonymous SNV	LOC100129697:NM_001290330:exon2:c.C960G:p.S320S	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs750866834	.	.	.	.	.	.	0.0005	0.0153	.	.	.	.	.	.	.	.	.	.	0.064	1.195	.	.	AC=1;AN=2;BQB=0.944749;DP4=61,51,6,19;DP=184;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.367217;MQSB=0.970329;RPB=0.00599945;SF=20;SGB=-0.692914;VDB=0.000440575	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:137:25:104,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	16	89017617	rs71395351	G	C	220.14	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	missense SNV	LOC100129697:NM_001290330:exon2:c.G1091C:p.R364P	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs71395351	.	.	.	.	.	.	0.0003	0	.	.	.	.	.	0.94816,N	.	.	.	5.4706	-1.729	-1.617	.	.	AC=7;AN=14;BQB=0.245834;DP4=452,127,173,88;DP=1200;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.0151298;MQSB=0.494148;RPB=2.15631e-07;SF=0,4,8,9,18,20,21;SGB=-0.693144;VDB=1.75032e-07	GT:DP:DV:PL	0/1:109:39:255,0,255	.	.	.	0/1:108:37:255,0,255	.	.	.	0/1:103:31:255,0,255	0/1:97:31:246,0,255	.	.	.	.	.	.	.	.	0/1:113:35:255,0,255	.	0/1:135:36:255,0,255	0/1:175:52:255,0,255	.	.	.	G	C	0	7	.	.	.	.		.	.	.	.	.	.	.	PM2
H	16	89017620	rs71395352	C	G	178.71	PASS	LOC100129697	uncharacterized LOC100129697	exonic	NM_001290330	.	missense SNV	LOC100129697:NM_001290330:exon2:c.C1094G:p.P365R	ENST00000378347.2,ENST00000268679.4,ENST00000360302.2,ENST00000448839.1,ENST00000436887.2	.	16q24.3	.	.	.	.	.	rs71395352	.	.	.	.	.	.	0.0003	0	.	.	.	.	.	1,D	.	.	.	5.9051	0.119	0.827	.	.	AC=7;AN=14;BQB=0.00556089;DP4=471,182,162,69;DP=1237;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.0436404;MQSB=0.148784;RPB=2.25145e-05;SF=0,4,8,9,18,20,21;SGB=-0.693141;VDB=1.18821e-07	GT:DP:DV:PL	0/1:116:37:255,0,255	.	.	.	0/1:117:32:206,0,255	.	.	.	0/1:101:26:211,0,255	0/1:96:29:228,0,255	.	.	.	.	.	.	.	.	0/1:121:26:154,0,255	.	0/1:146:38:245,0,255	0/1:187:43:191,0,255	.	.	.	C	G	0	7	.	.	.	.		.	.	.	.	.	.	.	PM2
H	16	89774947	rs117906686	G	A	222	PASS	VPS9D1	VPS9 domain containing 1	splicing	NM_004913	NM_004913:exon14:c.1698-8C>T	.	.	ENST00000561976.1,ENST00000389386.3	.	16q24.3	.	.	.	.	.	rs117906686	.	.	0.00498339	0.005	0.000998403	.	0.0013	0.0163	.	0.00841346127404	.	.	.	.	.	.	.	.	0.437	-0.021	.	.	AC=1;AN=2;BQB=0.877645;DP4=6,13,7,12;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.987191;SF=20;SGB=-0.69168;VDB=0.0832228	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:19:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	16	89882359	rs17232091	T	G	222	PASS	FANCA	Fanconi anemia, complementation group A	exonic	NM_000135,NM_001018112,NM_001286167	.	synonymous SNV	FANCA:NM_000135:exon2:c.A115C:p.R39R,FANCA:NM_001018112:exon2:c.A115C:p.R39R,FANCA:NM_001286167:exon2:c.A115C:p.R39R	ENST00000563673.1,ENST00000389302.3,ENST00000568369.1,ENST00000534992.1,ENST00000389301.3,ENST00000543736.1	.	16q24.3	.	.	.	.	.	rs17232091	.	.	0.0365449	0.0407	0.0081869	7.7e-05	0.0030	0.0406	0.0252680166922	0.0276442676683	.	.	.	.	.	.	.	.	0.030	0.489	.	.	AC=3;AN=6;BQB=0.587336;DP4=81,20,69,24;DP=259;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.888336;SF=15,18,20;SGB=-0.692717;VDB=0.343571	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:23:255,0,255	.	.	0/1:60:24:255,0,255	.	0/1:84:46:255,0,255	.	.	.	.	T	G	0	3	Fanconi anemia, complementation group A, 227650 (3)	.	.	.	19423727|18550849|16116422|15790592|15643609|15523645|15383454|15299030|12913077|12827451|12724401|12697994|12361951|12354784|11854506|11726552|11673408|11389461|11344308|11226273|11091222|10936049|10600472|10521298|10431244|10397750|10373536|10094191|9711872|9398857|9371798|9169126|9126728|9003502|8896564|8896563|8789444|8755924|7581462|3425596|2004784|1303209	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	CYTOPLASM;NUCLEUS	.	.	PID_FANCONI_PATHWAY;PID_BARD1PATHWAY	.	REACTOME_FANCONI_ANEMIA_PATHWAY;REACTOME_DNA_REPAIR	
L	16	89985954	rs780284801	C	T	222	PASS	MC1R	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	exonic	NM_002386	.	synonymous SNV	MC1R:NM_002386:exon1:c.C288T:p.A96A	ENST00000555147.1,ENST00000555427.1,ENST00000556922.1	CpG: 38	16q24.3	.	.	.	.	.	rs780284801	.	.	.	.	.	.	3.34e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-1.346	-4.642	.	.	AC=1;AN=2;BQB=0.771439;DP4=44,25,43,30;DP=187;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.707046;SF=20;SGB=-0.693147;VDB=0.0332326	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:142:73:255,0,255	.	.	.	.	C	T	0	1	[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3); [Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced skin damage}, 266300 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3)	.	.	.	24439955|23123854|19338054|19197024|19194882|19119422|17962522|17952075|17652101|17325166|17279550|16988713|16825572|16825562|16809487|16463023|15994880|15972726|15653560|15372380|12876664|12839583|12704245|12692165|12663858|12620197|11933208|11689486|11500806|11500805|11499678|11487574|11254446|11030758|10895310|10744096|10631149|10602988|10403794|9665397|9571181|9302268|8995760|8990005|8944016|8894704|8661706|8535072|8528204|8458079|8392067|8385273|8188275|7949735|7581459|7581437|1516719|1325670	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;RESPONSE_TO_LIGHT_STIMULUS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;RESPONSE_TO_ABIOTIC_STIMULUS;SECOND_MESSENGER_MEDIATED_SIGNALING;G_PROTEIN_SIGNALING_COUPLED_TO_CYCLIC_NUCLEOTIDE_SECOND_MESSENGER;RESPONSE_TO_UV;RESPONSE_TO_RADIATION;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;CYCLIC_NUCLEOTIDE_MEDIATED_SIGNALING;INTRACELLULAR_SIGNALING_CASCADE	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_MELANOGENESIS	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_S_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING	
L	17	1686391	rs536297451	G	A	216	PASS	SMYD4	SET and MYND domain containing 4	exonic	NM_052928	.	synonymous SNV	SMYD4:NM_052928:exon10:c.C2199T:p.H733H	ENST00000305513.7	.	17p13.3	.	.	.	.	.	rs536297451	.	.	0	.	0.000199681	.	8.237e-06	0	.	.	.	.	.	.	.	.	.	.	-0.405	0.132	0.956140,10.41	.	AC=1;AN=2;BQB=0.66348;DP4=15,1,5,4;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999599;SF=20;SGB=-0.662043;VDB=0.893639	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:9:249,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	17	3336510	rs758478725	A	T	222	PASS	OR1E2	olfactory receptor, family 1, subfamily E, member 2	exonic	NM_003554	.	missense SNV	OR1E2:NM_003554:exon1:c.T626A:p.F209Y	ENST00000248384.1	.	17p13.2	.	.	.	.	.	rs758478725	.	.	.	.	.	.	1.65e-05	0.0002	.	.	0.114,T	0.248,B	0.183,B	1,N	0.004788,N	1.36,L	8.67,T	13.9444	2.159	3.584	1.320856,12.38	5.15	AC=1;AN=2;BQB=0.127398;DP4=25,11,15,13;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=0.994862;MQSB=0.412238;RPB=0.87917;SF=20;SGB=-0.693054;VDB=0.430715	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:28:255,0,255	.	.	.	.	A	T	0	1	.	.	.	.		SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	17	4536753	rs144038526	G	A	222	PASS	ALOX15	arachidonate 15-lipoxygenase	exonic	NM_001140	.	missense SNV	ALOX15:NM_001140:exon9:c.C1204T:p.R402W	ENST00000545513.1,ENST00000293761.3,ENST00000570836.1,ENST00000574640.1	.	17p13.2	.	.	.	.	.	rs144038526	.	.	0	.	0.000199681	7.7e-05	7.416e-05	0.0003	.	.	0.007,D	0.997,D	1.0,D	1,N	0.015310,N	2.93,M	-1.24,T	6.0582	0.712	-0.279	4.734896,24.6	.	AC=1;AN=2;BQB=0.17662;DP4=15,9,8,15;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.606393;SF=20;SGB=-0.692717;VDB=0.036942	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:23:255,0,255	.	.	.	.	G	A	0	1	Arachidonate 15-lipoxygenase	.	.	.	14716014|10200270|3202857|2315307|1570320	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	OXIDOREDUCTASE_ACTIVITY	KEGG_ARACHIDONIC_ACID_METABOLISM;KEGG_LINOLEIC_ACID_METABOLISM	PID_IL4_2PATHWAY	.	.	
L	17	5042800	rs200443505	G	C	222	PASS	USP6	ubiquitin specific peptidase 6	exonic	NM_001304284,NM_004505	.	missense SNV	USP6:NM_004505:exon14:c.G1329C:p.Q443H,USP6:NM_001304284:exon22:c.G1329C:p.Q443H	ENST00000332776.4,ENST00000304328.5,ENST00000574788.1,ENST00000250066.6	.	17p13.2	.	.	.	Score=0.924846;Name=chr17:36336932	.	rs200443505	.	.	0.00996678	0.0069	0.00159744	7.7e-05	0.0003	0.0036	0.00612557595712	0.00996678	0.0,D	0.009,B	0.085,B	1,N	0.000004,D	0.345,N	2.02,T	.	0.132	1.034	.	.	AC=1;AN=2;BQB=0.984335;DP4=16,9,13,6;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.98821;SF=20;SGB=-0.69168;VDB=0.267899	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:19:255,0,255	.	.	.	.	G	C	0	1	Ubiquitin-specific protease 6	.	.	.	12604796|3274085|2840623|1565468	.	CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VACUOLE;LYSOSOME	CYSTEINE_TYPE_PEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;CYSTEINE_TYPE_ENDOPEPTIDASE_ACTIVITY	.	PID_ARF6_PATHWAY	.	.	
H	17	6380418	rs112645411	G	C	222	PASS	PITPNM3	PITPNM family member 3	exonic	NM_001165966,NM_031220	.	missense SNV	PITPNM3:NM_001165966:exon8:c.C908G:p.P303R,PITPNM3:NM_031220:exon9:c.C1016G:p.P339R	ENST00000262483.8,ENST00000421306.3	.	17p13.2	.	.	Score=783;Name=V$E2F_01	.	.	rs112645411	.	.	0.00664452	0.005	0.000998403	.	0.0003	0.0049	0.00664452	0.00664452	0.03,D	0.94,D	0.991,D	0.708257,D	0.057276,N	2.125,M	0.81,T	9.9843	2.490	4.527	5.507520,26.3	5.31	AC=1;AN=2;BQB=0.68016;DP4=21,1,16,1;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.460027;SF=20;SGB=-0.690438;VDB=0.0396698	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:17:255,0,255	.	.	.	.	G	C	0	1	Cone-rod dystrophy 5, 600977 (3)	.	.	.	17377520|15627748|10022914|8586428	MEMBRANE_LIPID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOINOSITIDE_METABOLIC_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ION_BINDING;RECEPTOR_BINDING;LIPID_TRANSPORTER_ACTIVITY;PHOSPHOLIPID_TRANSPORTER_ACTIVITY	.	.	.	.	
H	17	7296911	rs368081936	C	G	222	PASS	PLSCR3	phospholipid scramblase 3	splicing	NM_001201576,NM_020360	NM_001201576:exon3:c.243+9G>C;NM_020360:exon3:c.243+9G>C	.	.	ENST00000573331.1,ENST00000324822.11,ENST00000574401.1,ENST00000576201.1,ENST00000576362.1,ENST00000535512.1	CpG: 144	17p13.1	.	.	.	.	.	rs368081936	.	.	.	.	.	.	0.0002	0.0033	.	.	.	.	.	.	.	.	.	.	0.204	-0.077	0.983933,10.57	.	AC=1;AN=2;BQB=0.947597;DP4=21,15,13,13;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977366;SF=20;SGB=-0.692976;VDB=0.363601	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:26:255,0,255	.	.	.	.	C	G	0	1	Phospholipid scramblase 3	.	.	.	15328404|10930526	.	.	.	.	.	.	.	
M	17	7533555	rs9282845	G	A	222	PASS	SHBG	sex hormone-binding globulin	exonic	NM_001040,NM_001146279,NM_001146280,NM_001146281	.	missense SNV	SHBG:NM_001040:exon1:c.G65A:p.R22H,SHBG:NM_001146279:exon1:c.G65A:p.R22H,SHBG:NM_001146280:exon1:c.G65A:p.R22H,SHBG:NM_001146281:exon1:c.G65A:p.R22H	ENST00000576728.1,ENST00000575903.1,ENST00000570547.1,ENST00000416273.3,ENST00000340624.5,ENST00000380450.4,ENST00000576478.1,ENST00000575314.1,ENST00000441599.2,ENST00000574539.1,ENST00000572182.1,ENST00000572262.1	.	17p13.1	.	.	.	.	.	rs9282845	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0033	0.00166113	0.00166113	0.14,T	0.003,B	0.102,B	1,N	0.866868,N	0,N	-1.53,D	0.758	-0.347	-0.281	.	.	AC=1;AN=2;BQB=0.964651;DP4=21,4,19,4;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.906252;SF=20;SGB=-0.692717;VDB=0.013976	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:48:23:255,0,255	.	.	.	.	G	A	0	1	Sex hormone-binding globulin (androgen binding protein)	.	.	.	19574343|17992261|16926255|14764814|14671199|12098657|11473114|7714097|6681689|4104753|4100176|2587256|2249477|2013230|1619001|1400872|930924|576768|567313	.	.	LIPID_BINDING;HORMONE_BINDING;STEROID_BINDING	.	PID_AR_NONGENOMIC_PATHWAY	.	.	
H	17	7640532	rs201401856	C	T	118	PASS	DNAH2	dynein, axonemal, heavy chain 2	exonic	NM_001303270,NM_020877	.	missense SNV	DNAH2:NM_001303270:exon8:c.C1126T:p.P376S,DNAH2:NM_020877:exon8:c.C1126T:p.P376S	ENST00000572933.1,ENST00000389173.2,ENST00000570791.1,ENST00000082259.3	.	17p13.1	.	.	Score=798;Name=V$TAXCREB_01	.	.	rs201401856	.	.	0.00332226	0.004	0.000798722	.	0.0003	0.0036	0.00332226	0.00332226	0.077,T	0.176,B	0.39,B	0.874153,D	0.000514,D	1.155,L	0.61,T	18.5321	2.686	3.211	2.153347,17.20	5.67	AC=1;AN=2;BQB=0.487298;DP4=4,0,1,4;DP=14;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.974597;MQSB=0.974597;RPB=0.243649;SF=20;SGB=-0.590765;VDB=0.226768	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:5:151,0,149	.	.	.	.	C	T	0	1	Dynein, axonemal, heavy chain-2	.	.	.	15937072|9256245|8812413	.	.	.	KEGG_HUNTINGTONS_DISEASE	.	.	.	
L	17	7701104	rs199516071	C	T	222	PASS	DNAH2	dynein, axonemal, heavy chain 2	exonic	NM_020877	.	synonymous SNV	DNAH2:NM_020877:exon53:c.C8187T:p.V2729V	ENST00000572933.1,ENST00000389173.2	.	17p13.1	.	.	.	.	.	rs199516071	.	.	0.00332226	0.003	0.000599042	.	0.0003	0.0043	0.00332226	0.00332226	.	.	.	.	.	.	.	.	-4.325	-5.580	.	.	AC=1;AN=2;BQB=0.603796;DP4=16,7,7,6;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.309532;SF=20;SGB=-0.683931;VDB=0.0861673	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:13:255,0,255	.	.	.	.	C	T	0	1	Dynein, axonemal, heavy chain-2	.	.	.	15937072|9256245|8812413	.	.	.	KEGG_HUNTINGTONS_DISEASE	.	.	.	
L	17	8926248	rs746720404	C	T	222	PASS	NTN1	netrin 1	exonic	NM_004822	.	synonymous SNV	NTN1:NM_004822:exon2:c.C558T:p.N186N	ENST00000538852.1,ENST00000546090.1,ENST00000173229.2	CpG: 328	17p13.1	.	.	.	.	.	rs746720404	.	.	.	.	.	.	9.872e-06	0.0001	.	.	.	.	.	.	.	.	.	.	2.320	3.187	1.091268,11.17	4.03	AC=2;AN=4;BQB=0.603291;DP4=39,14,41,22;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.989131;SF=13,20;SGB=-0.693097;VDB=0.392461	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:30:255,0,255	.	.	.	.	.	.	0/1:56:33:255,0,255	.	.	.	.	C	T	0	2	Netrin 1, mouse, homolog of	.	.	.	24876346|19589994|19349462|18796601|18776887|18585357|18353983|17916735|17908930|16809490|15758951|15520390|15510105|15494734|15494733|15494732|15343335|12827203|12352982|11986622|11986620|11239160|11239147|11048721|10958786|10485706|9950216|9796814|8978605|8895455|7604039	.	.	.	KEGG_AXON_GUIDANCE	PID_NETRIN_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_CELL_CELL_COMMUNICATION;REACTOME_AXON_GUIDANCE;REACTOME_ROLE_OF_SECOND_MESSENGERS_IN_NETRIN1_SIGNALING;REACTOME_NETRIN1_SIGNALING;REACTOME_DCC_MEDIATED_ATTRACTIVE_SIGNALING;REACTOME_DSCAM_INTERACTIONS	
L	17	9821372	rs35312933	C	T	222	PASS	GAS7	growth arrest-specific 7	exonic	NM_001130831,NM_003644,NM_201432,NM_201433	.	synonymous SNV	GAS7:NM_003644:exon9:c.G843A:p.Q281Q,GAS7:NM_001130831:exon13:c.G1071A:p.Q357Q,GAS7:NM_201432:exon13:c.G1083A:p.Q361Q,GAS7:NM_201433:exon13:c.G1263A:p.Q421Q	ENST00000396115.2,ENST00000580865.1,ENST00000583882.1,ENST00000437099.2,ENST00000540214.1,ENST00000579158.1,ENST00000432992.2,ENST00000323816.4,ENST00000585266.1,ENST00000542249.1	.	17p13.1	.	.	Score=902;Name=V$TAL1ALPHAE47_01	.	.	rs35312933	.	.	0.0365449	0.0347	0.0349441	0.0349	0.0145	0.0417	0.0275651266462	0.0348558098558	.	.	.	.	.	.	.	.	-1.717	-0.104	1.079859,11.11	.	AC=2;AN=4;BQB=0.121466;DP4=35,5,35,6;DP=114;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0532947;SF=16,20;SGB=-0.692562;VDB=0.0115151	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:22:255,0,255	.	.	.	0/1:42:19:255,0,255	.	.	.	.	C	T	0	2	Growth arrest-specific 7	.	.	.	10706619|9736752|7626897	NEGATIVE_REGULATION_OF_CELL_CYCLE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;CELL_CYCLE_ARREST_GO_0007050;CELL_CYCLE_GO_0007049;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_CELL_CYCLE	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	.	.	.	
L	17	10402142	rs148781664	G	A	223.2	PASS	MYH1	myosin, heavy chain 1, skeletal muscle, adult	splicing	NM_005963	NM_005963:exon30:c.3985-3C>T	.	.	ENST00000581304.1,ENST00000226207.5,ENST00000399342.2,ENST00000587182.2	.	17p13.1	.	.	.	.	.	rs148781664	.	.	0.0564784	0.0556	0.0151757	0.0009	0.0128	0.0427	0.0329249641654	0.045673071875	.	.	.	.	.	.	.	.	0.093	0.108	1.216055,11.83	.	AC=6;AN=10;BQB=0.908075;DP4=34,33,49,38;DP=200;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.751254;SF=7,11,13,20,23;SGB=-0.680642;VDB=0.532753	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:27:12:255,0,255	.	.	.	0/1:37:14:255,0,255	.	0/1:27:14:255,0,255	.	.	.	.	.	.	1/1:33:33:255,99,0	.	.	0/1:30:14:255,0,255	.	G	A	1	4	Myosin, heavy polypeptide-1, skeletal muscle, adult	.	.	.	16121187|10388558|10077619|8518795|7545970|6879174|6654334|6304733|3864153|3653886|3000272|1465443	.	.	.	KEGG_TIGHT_JUNCTION;KEGG_VIRAL_MYOCARDITIS	.	.	.	
H	17	11607510	rs200445686	G	T	222	PASS	DNAH9	dynein, axonemal, heavy chain 9	splicing	NM_001372	NM_001372:exon25:c.5152-10G>T	.	.	ENST00000454412.2,ENST00000262442.4	.	17p12	.	.	.	.	.	rs200445686	.	.	0.00166113	0.002	0.000399361	.	0.0001	0.0017	0.00166113	0.00240384754808	.	.	.	.	.	.	.	.	1.416	0.108	.	3.11	AC=1;AN=2;BQB=0.35414;DP4=14,2,13,4;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.781374;SF=20;SGB=-0.690438;VDB=0.862239	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:17:255,0,255	.	.	.	.	G	T	0	1	Dynein, axonemal, heavy chain 9	.	.	.	15937072|11247663|11175280|10393427|8812413|8703119	GAMETE_GENERATION;SEXUAL_REPRODUCTION;REPRODUCTION	ORGANELLE_PART;CELL_PROJECTION_PART;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;CELL_PROJECTION;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	.	
L	17	11757355	rs117483481	G	A	222	PASS	DNAH9	dynein, axonemal, heavy chain 9	exonic	NM_001372	.	synonymous SNV	DNAH9:NM_001372:exon50:c.G9543A:p.P3181P	ENST00000454412.2,ENST00000262442.4	.	17p12	.	.	.	.	.	rs117483481	.	.	0.0448505	0.0427	0.0111821	0.0030	0.0054	0.0343	0.0290964785605	0.0372596153846	.	.	.	.	.	.	.	.	-3.643	-4.586	.	.	AC=3;AN=6;BQB=0.418345;DP4=132,49,126,54;DP=539;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997314;SF=7,20,23;SGB=-0.693147;VDB=0.00309814	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:115:50:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:102:60:255,0,255	.	.	0/1:144:70:255,0,255	.	G	A	0	3	Dynein, axonemal, heavy chain 9	.	.	.	15937072|11247663|11175280|10393427|8812413|8703119	GAMETE_GENERATION;SEXUAL_REPRODUCTION;REPRODUCTION	ORGANELLE_PART;CELL_PROJECTION_PART;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;CELL_PROJECTION;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	.	
L	17	15164039	.	G	A	222	PASS	PMP22	peripheral myelin protein 22	exonic	NM_000304,NM_001281455,NM_001281456,NM_153321,NM_153322	.	synonymous SNV	PMP22:NM_153322:exon1:c.C6T:p.L2L,PMP22:NM_000304:exon2:c.C6T:p.L2L,PMP22:NM_001281455:exon2:c.C6T:p.L2L,PMP22:NM_001281456:exon2:c.C6T:p.L2L,PMP22:NM_153321:exon2:c.C6T:p.L2L	ENST00000494511.1,ENST00000395936.1,ENST00000395938.2,ENST00000426385.3,ENST00000312280.3	CpG: 77	17p12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.734	-0.334	1.823592,15.13	.	AC=1;AN=2;BQB=0.899935;DP4=24,18,29,11;DP=120;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.950074;SF=20;SGB=-0.693145;VDB=0.451039	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:82:40:255,0,255	.	.	.	.	G	A	0	1	Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot-Marie-Tooth disease, type 1E, 118300 (3); Roussy-Levy syndrome, 180800 (3); Neuropathy, inflammatory demyelinating, 139393 (3)	.	.	.	24530202|21670407|21193943|20493460|19543269|19259128|19067730|18698610|17796454|17620487|16437560|16401743|15786462|15205993|12796555|12578939|12439896|11835375|11752407|11140948|10915777|10915775|10818147|10545609|10489052|10440896|10433908|10330345|10211478|9894872|9888385|9842994|9678704|9585367|9545397|9544841|9543325|9195231|9040737|9004143|8996089|8988161|8956034|8848937|8651299|8630243|8589720|8589708|8583222|8541860|8510709|8500795|8492918|8482547|8422677|8275092|8252046|8198134|8111370|8105684|8012388|7829101|7825607|7728152|7139106|6380756|3467805|3409319|1999826|1935894|1822787|1721895|1692961|1677316|1564512|1556154|1552943|1552545|1552536|1497668|1374899|1349106|1347472|1303282|1303281|1303231|1303230|1303229|1303228|1303210|1301995|1297450|475348	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PERIPHERAL_NERVOUS_SYSTEM_DEVELOPMENT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	.	.	PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	.	PM2
H	17	15234646	rs774458615	T	C	222	PASS	TEKT3	tektin 3	exonic	NM_031898	.	missense SNV	TEKT3:NM_031898:exon3:c.A257G:p.N86S	ENST00000395930.1,ENST00000338696.2	.	17p12	.	.	.	.	.	rs774458615	.	.	.	.	.	.	8.237e-06	0.0001	.	.	0.026,D	0.002,B	0.0,B	0.999927,D	0.000000,D	2.71,M	1.47,T	15.2577	2.062	5.928	.	5.14	AC=1;AN=2;BQB=0.963922;DP4=29,8,23,7;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.65468;SF=20;SGB=-0.693097;VDB=0.312553	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:30:255,0,255	.	.	.	.	T	C	0	1	Tektin 3	.	.	.	14735490	.	.	.	.	.	.	.	
L	17	17399211	.	T	G	20.91	PASS	RASD1	RAS, dexamethasone-induced 1	exonic	NM_001199989,NM_016084	.	synonymous SNV	RASD1:NM_001199989:exon1:c.A285C:p.T95T,RASD1:NM_016084:exon1:c.A285C:p.T95T	ENST00000579152.1,ENST00000225688.3	CpG: 210	17p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.072	-0.508	1.589604,13.79	.	AC=1;AN=2;BQB=0.602752;DP4=15,3,5,0;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0332807;SF=20;SGB=-0.590765;VDB=0.0904733	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:5:56,0,255	.	.	.	.	T	G	0	1	Ras protein, dexamethasone-induced, 1	.	.	.	15339652|11086993|10673050|9452419	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	PM2
H	17	17717983	rs576886028	G	A	222	PASS	SREBF1	sterol regulatory element binding transcription factor 1	exonic	NM_001005291,NM_004176	.	missense SNV	SREBF1:NM_004176:exon15:c.C2681T:p.A894V,SREBF1:NM_001005291:exon16:c.C2771T:p.A924V	ENST00000355815.4,ENST00000395757.1,ENST00000261646.5,ENST00000338854.5	.	17p11.2	.	.	.	.	.	rs576886028	.	.	0.00166113	0.002	0.000399361	.	0.0006	0.0115	0.00166113	0.00166113	0.51,T	0.999,D	1.0,D	1,D	0.000000,D	1.04,L	2.48,T	13.608	2.658	5.548	3.409235,23.0	5.62	AC=1;AN=2;BQB=0.837831;DP4=12,8,9,5;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.894418;SF=20;SGB=-0.686358;VDB=0.185218	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:14:255,0,255	.	.	.	.	G	A	0	1	Sterol regulatory element binding transcription factor 1	.	.	.	20466882|19966780|16799563|16081540|15680331|15123654|11929849|11546755|11485982|10949029|10619424|9784493|9329978|9062340|8402897|8156598|7759101	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RESPONSE_TO_EXTRACELLULAR_STIMULUS;CELLULAR_RESPONSE_TO_STRESS;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;RESPONSE_TO_NUTRIENT_LEVELS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_RESPONSE_TO_STIMULUS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CELLULAR_RESPONSE_TO_EXTRACELLULAR_STIMULUS;TRANSCRIPTION;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;CELLULAR_RESPONSE_TO_NUTRIENT_LEVELS	ORGANELLE_PART;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;NUCLEAR_PART;CYTOPLASM;ENDOPLASMIC_RETICULUM_MEMBRANE;ENDOPLASMIC_RETICULUM;NUCLEUS;ORGANELLE_MEMBRANE;NUCLEAR_ENVELOPE_ENDOPLASMIC_RETICULUM_NETWORK;ENVELOPE;ENDOMEMBRANE_SYSTEM;ORGANELLE_ENVELOPE;NUCLEAR_ENVELOPE;INTRACELLULAR_ORGANELLE_PART;ENDOPLASMIC_RETICULUM_PART	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;SEQUENCE_SPECIFIC_DNA_BINDING;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_INSULIN_SIGNALING_PATHWAY	PID_MTOR_4PATHWAY;PID_RXR_VDR_PATHWAY;PID_CASPASE_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CIRCADIAN_CLOCK;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	
H	17	18874456	.	C	A	221	PASS	SLC5A10	solute carrier family 5 (sodium/sugar cotransporter), member 10	exonic	NM_001042450,NM_001270648,NM_001270649,NM_001282417,NM_152351	.	missense SNV	SLC5A10:NM_001270648:exon7:c.C690A:p.H230Q,SLC5A10:NM_001282417:exon7:c.C522A:p.H174Q,SLC5A10:NM_001042450:exon8:c.C771A:p.H257Q,SLC5A10:NM_001270649:exon8:c.C771A:p.H257Q,SLC5A10:NM_152351:exon8:c.C771A:p.H257Q	ENST00000345041.4,ENST00000395645.3,ENST00000395643.2,ENST00000395642.1,ENST00000395647.2,ENST00000388995.6,ENST00000585154.2,ENST00000417251.2,ENST00000317977.6	.	17p11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073,T	0.015,B	0.072,B	0.949916,D	0.412649,N	0,N	-2.23,D	8.6226	0.402	0.778	2.089111,16.78	.	AC=1;AN=2;BQB=0.560287;DP4=56,19,27,10;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.404475;SF=20;SGB=-0.693141;VDB=0.370549	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:112:37:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	17	19618108	rs79960553	G	A	222	PASS	SLC47A2	solute carrier family 47 (multidrug and toxin extrusion), member 2	splicing	NM_001099646,NM_001256663,NM_152908	NM_001099646:exon3:c.226-6C>T;NM_001256663:exon3:c.226-6C>T;NM_152908:exon3:c.226-6C>T	.	.	ENST00000463318.1,ENST00000325411.5,ENST00000350657.5	.	17p11.2	.	.	.	.	.	rs79960553	.	.	0.038206	0.0298	0.00898562	0.0076	0.0061	0.0264	0.0245023111792	0.0336538521635	.	.	.	.	.	.	.	.	0.248	0.161	.	2.15	AC=1;AN=2;BQB=0.0920606;DP4=24,11,15,16;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.543111;SF=20;SGB=-0.69311;VDB=0.130848	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:31:255,0,255	.	.	.	.	G	A	0	1	Solute carrier family 47, member 2	.	.	.	19158817|16330770	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_BILE_SALT_AND_ORGANIC_ANION_SLC_TRANSPORTERS	
H	17	27438781	rs200046806	C	T	222	PASS	MYO18A	myosin XVIIIA	exonic	NM_078471,NM_203318	.	missense SNV	MYO18A:NM_078471:exon16:c.G2699A:p.R900H,MYO18A:NM_203318:exon16:c.G2699A:p.R900H	ENST00000527372.1,ENST00000354329.4,ENST00000533112.1,ENST00000531253.1	.	17q11.2	.	.	.	.	.	rs200046806	.	.	0.00166113	0.001	0.000599042	0.0002	0.0003	0.0024	0.00229709104135	0.00166113	0.001,D	1.0,D	1.0,D	0.999974,D	0.000000,D	.	-0.69,T	19.2175	2.538	7.367	7.945254,35	5.42	AC=1;AN=2;BQB=0.632337;DP4=11,13,17,13;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.884203;SF=20;SGB=-0.693097;VDB=0.651945	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:30:255,0,255	.	.	.	.	C	T	0	1	Myosin XVIIIA	.	.	.	23345592|19006078|18854160|16087679|12761286	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;ANTI_APOPTOSIS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	.	.	.	.	.	REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_FGFR1_FUSION_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS	
H	17	27869597	rs34151057	G	A	118.67	PASS	TAOK1	TAO kinase 1	exonic	NM_020791,NM_025142	.	missense SNV	TAOK1:NM_025142:exon18:c.G2119A:p.A707T,TAOK1:NM_020791:exon20:c.G2563A:p.A855T	ENST00000261716.3,ENST00000536202.1	.	17q11.2	.	.	Score=888;Name=V$CEBP_Q2	.	.	rs34151057	.	.	0.0166113	0.0169	0.00339457	.	0.0012	0.0158	0.0166113	0.0132211580529	0.223,T	0.067,B	0.427,B	0.999982,D	0.000004,D	2.095,M	0.82,T	19.5531	2.623	5.263	2.908491,21.9	5.57	AC=3;AN=6;BQB=0.79079;DP4=26,3,23,1;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978023;SF=7,20,23;SGB=-0.590765;VDB=0.22001	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:17:5:129,0,240	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:10:190,0,165	.	.	0/1:18:9:137,0,249	.	G	A	0	3	TAO kinase 1	.	.	.	17417629|16407310|14517247|10718198|9786855	.	.	.	KEGG_MAPK_SIGNALING_PATHWAY	PID_P38_MKK3_6PATHWAY	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_DNA_REPLICATION;REACTOME_MITOTIC_PROMETAPHASE	
H	17	27889670	rs367567626	C	T	221	PASS	ABHD15	abhydrolase domain containing 15	exonic	NM_198147	.	missense SNV	ABHD15:NM_198147:exon2:c.G1316A:p.R439H	ENST00000307201.4,ENST00000581474.1	.	17q11.2	.	.	Score=799;Name=V$OLF1_01	.	.	rs367567626	.	.	.	.	.	7.7e-05	4.124e-05	0	.	.	0.007,D	0.002,B	0.004,B	0.991066,D	0.022205,N	2.075,M	2.14,T	10.2834	1.476	2.211	6.632082,32	4.81	AC=1;AN=2;BQB=0.54053;DP4=27,17,15,8;DP=82;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.612358;SF=20;SGB=-0.692717;VDB=0.0125355	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	28400135	.	G	A	208	PASS	EFCAB5	EF-hand calcium binding domain 5	exonic	NM_001145053	.	missense SNV	EFCAB5:NM_001145053:exon14:c.G2447A:p.R816H	ENST00000378738.3,ENST00000536908.2,ENST00000541045.1,ENST00000394832.2,ENST00000394835.3,ENST00000320856.5	.	17q11.2	.	.	.	.	Score=2080;Name="1858507:AluJr(SINE)"	.	.	.	.	.	.	.	.	.	.	.	0.176,T	0.0,B	0.0,B	1,N	.	.	0.96,T	.	-1.864	-0.904	.	.	AC=1;AN=2;BQB=0.934777;DP4=8,5,3,6;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.725372;SF=20;SGB=-0.662043;VDB=0.5193	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:241,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	17	28419077	rs113144600	G	A	222	PASS	EFCAB5	EF-hand calcium binding domain 5	exonic	NM_198529	.	missense SNV	EFCAB5:NM_198529:exon21:c.G4126A:p.V1376M	ENST00000582938.1,ENST00000394832.2,ENST00000394835.3,ENST00000320856.5	.	17q11.2	.	.	.	.	.	rs113144600	.	.	0.00166113	0.002	0.000399361	.	0.0002	0.0013	0.00166113	0.00166113	0.097,T	0.003,B	0.007,B	1,N	0.119126,N	0.46,N	2.77,T	19.1566	-1.572	-1.403	.	.	AC=1;AN=2;BQB=0.945784;DP4=4,5,4,9;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.934777;SF=20;SGB=-0.683931;VDB=0.0330066	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:13:255,0,235	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	29844674	rs61750826	C	T	208.33	PASS	RAB11FIP4	RAB11 family interacting protein 4 (class II)	exonic	NM_001303542,NM_032932	.	synonymous SNV	RAB11FIP4:NM_001303542:exon2:c.C36T:p.S12S,RAB11FIP4:NM_032932:exon4:c.C342T:p.S114S	ENST00000394744.2,ENST00000325874.8	.	17q11.2	.	.	.	.	.	rs61750826	.	.	0.0166113	0.0149	0.0155751	0.0043	0.0143	0.0300	0.0166113	0.0156250091346	.	.	.	.	.	.	.	.	-0.577	-0.853	1.070700,11.06	.	AC=3;AN=6;BQB=0.31263;DP4=68,14,59,9;DP=198;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.365722;SF=3,11,20;SGB=-0.693021;VDB=0.605772	GT:DP:DV:PL	.	.	.	0/1:56:27:255,0,255	.	.	.	.	.	.	.	0/1:43:14:215,0,255	.	.	.	.	.	.	.	.	0/1:51:27:255,0,255	.	.	.	.	C	T	0	3	RAB11 family-interacting protein 4	.	.	.	16148947|12470645|11495908|11347906	.	.	.	KEGG_ENDOCYTOSIS	.	.	.	
H	17	33456631	rs34615886	G	A	222	PASS	FNDC8	fibronectin type III domain containing 8	exonic	NM_017559	.	missense SNV	FNDC8:NM_017559:exon3:c.G776A:p.R259H	ENST00000586869.1,ENST00000158009.5	.	17q12	.	.	.	.	.	rs34615886	.	.	0.00498339	0.004	0.00838658	0.0078	0.0031	0.0044	0.00306278528331	0.00480769432692	0.016,D	0.998,D	1.0,D	1,D	0.000141,D	0.895,L	0.34,T	13.835	2.724	3.145	6.482809,30	4.92	AC=1;AN=2;BQB=0.865149;DP4=9,14,11,12;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.943671;SF=20;SGB=-0.692717;VDB=0.0108527	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:23:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	33507623	rs140495399	C	T	222	PASS	UNC45B	unc-45 myosin chaperone B	exonic	NM_001033576,NM_001267052,NM_001308281,NM_173167	.	synonymous SNV	UNC45B:NM_001308281:exon15:c.C2064T:p.Y688Y,UNC45B:NM_173167:exon17:c.C2307T:p.Y769Y,UNC45B:NM_001033576:exon18:c.C2301T:p.Y767Y,UNC45B:NM_001267052:exon18:c.C2301T:p.Y767Y	ENST00000268876.5,ENST00000591048.1,ENST00000378449.1,ENST00000394570.2,ENST00000433649.1	.	17q12	.	.	.	.	.	rs140495399	.	.	0.0348837	0.0278	0.023762	0.0031	0.0106	0.0193	0.0206738049923	0.0348837	.	.	.	.	.	.	.	.	1.195	2.674	.	4.24	AC=2;AN=4;BQB=0.998815;DP4=25,12,23,12;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.132966;SF=13,20;SGB=-0.692717;VDB=0.0825305	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:23:255,0,255	.	.	.	.	.	.	0/1:29:12:255,0,255	.	.	.	.	C	T	0	2	?Cataract 43, 616279 (3)	.	.	.	24549050|17586488|12356907	.	.	.	.	.	.	.	
L	17	33507673	rs76329788	G	A	222	PASS	UNC45B	unc-45 myosin chaperone B	exonic	NM_001033576,NM_001267052,NM_001308281,NM_173167	.	missense SNV	UNC45B:NM_001308281:exon15:c.G2114A:p.C705Y,UNC45B:NM_173167:exon17:c.G2357A:p.C786Y,UNC45B:NM_001033576:exon18:c.G2351A:p.C784Y,UNC45B:NM_001267052:exon18:c.G2351A:p.C784Y	ENST00000268876.5,ENST00000591048.1,ENST00000378449.1,ENST00000394570.2,ENST00000433649.1	.	17q12	.	.	.	.	.	rs76329788	.	.	0.0348837	0.0278	0.023762	0.0030	0.0107	0.0193	0.0206738049923	0.0348837	0.002,D	0.997,D	1.0,D	1,D	0.000000,D	3.215,M	0.76,T	17.7336	2.427	9.741	6.298190,29.1	5.2	AC=2;AN=4;BQB=0.999125;DP4=15,15,16,7;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996503;SF=13,20;SGB=-0.683931;VDB=0.708747	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:13:255,0,255	.	.	.	.	.	.	0/1:23:10:255,0,255	.	.	.	.	G	A	0	2	?Cataract 43, 616279 (3)	.	.	.	24549050|17586488|12356907	.	.	.	.	.	.	.	PP3
H	17	36623414	rs757162463	C	T	222	PASS	ARHGAP23	Rho GTPase activating protein 23	exonic	NM_001199417	.	missense SNV	ARHGAP23:NM_001199417:exon7:c.C1490T:p.T497M	ENST00000443378.1,ENST00000431231.2,ENST00000437668.3	.	17q12	.	.	.	.	.	rs757162463	.	.	.	.	.	.	0.0002	0	.	.	0.001,D	0.972,D	1.0,D	0.835405,N	0.000012,D	2.045,M	2.02,T	16.5075	2.200	4.113	5.991318,27.8	4.75	AC=1;AN=2;BQB=0.521963;DP4=26,16,34,12;DP=107;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983999;SF=20;SGB=-0.693147;VDB=0.839451	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:46:255,0,255	.	.	.	.	C	T	0	1	RHO GTPase-activating protein 23	.	.	.	15254754|10819331	.	.	.	.	.	.	.	PM2,PP3
H	17	39203222	rs370086433	G	A	204	PASS	KRTAP2-1	keratin associated protein 2-1	exonic	NM_001123387	.	stopgain	KRTAP2-1:NM_001123387:exon1:c.C298T:p.Q100X	ENST00000542137.1,ENST00000391419.3	.	17q21.2	.	.	.	.	.	rs370086433	.	.	0.00830565	0.0079	0.00159744	.	0.0003	0.0102	0.00830565	0.0084134625	.	.	.	0.999605,D	0.226578,U	.	.	15.7563	2.784	1.592	11.676049,38	5.9	AC=2;AN=4;BQB=0.935249;DP4=15,38,11,15;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.809312;MQSB=0.201897;RPB=0.928127;SF=5,20;SGB=-0.670168;VDB=0.00364775	GT:DP:DV:PL	.	.	.	.	.	0/1:32:10:220,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:16:255,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	17	39240560	rs200090467	T	C	166.5	PASS	KRTAP4-7	keratin associated protein 4-7	exonic	NM_033061	.	synonymous SNV	KRTAP4-7:NM_033061:exon1:c.T102C:p.C34C	ENST00000391417.4	.	17q21.2	.	.	Score=903;Name=V$USF_02	Score=0.945624;Name=chr17:39258559	.	rs200090467	.	.	.	.	.	.	0.0015	0.0027	.	0.0434783	.	.	.	.	.	.	.	.	0.130	0.716	.	2.53	AC=2;AN=4;BQB=0.995088;DP4=157,77,71,41;DP=505;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=1.10294e-16;MQSB=0.193849;RPB=0.150721;SF=10,20;SGB=-0.693145;VDB=0.219104	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:193:41:147,0,255	.	.	.	.	.	.	.	.	.	0/1:153:71:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	17	39240577	rs755142071	A	G	222	PASS	KRTAP4-7	keratin associated protein 4-7	exonic	NM_033061	.	missense SNV	KRTAP4-7:NM_033061:exon1:c.A119G:p.Y40C	ENST00000391417.4	.	17q21.2	.	.	.	Score=0.945624;Name=chr17:39258559	.	rs755142071	.	.	.	.	.	.	0.0006	0	.	.	1.0,T	0.0,B	0.0,B	1,N	0.477557,N	.	5.91,T	5.5941	-0.124	1.035	.	.	AC=1;AN=2;BQB=0.718745;DP4=53,33,45,18;DP=220;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=1.12881e-07;MQSB=0.588215;RPB=0.846012;SF=20;SGB=-0.693147;VDB=0.00184271	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:149:63:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	39305785	rs411367	A	T	116.12	PASS	KRTAP4-5	keratin associated protein 4-5	exonic	NM_033188	.	missense SNV	KRTAP4-5:NM_033188:exon1:c.T235A:p.C79S	ENST00000343246.4	.	17q21.2	.	.	Score=721;Name=V$NRSF_01	.	Score=273;Name="1882404:(CAG)n(Simple_repeat)"	rs411367	.	.	.	.	.	.	0.0132	0.0062	.	0.00869565	0.953,T	0.0,B	0.0,B	1,P	0.717076,N	-1.22,N	6.74,T	5.4481	-1.272	-0.925	.	.	AC=21;AN=42;BQB=0.998771;DP4=931,448,200,163;DP=2593;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.884307;MQSB=0.981371;RPB=0.00119121;SF=0,2,3,4,5,6,7,8,9,10,11,13,14,15,16,18,19,20,21,23,24;SGB=-0.670168;VDB=3.01561e-05	GT:DP:DV:PL	0/1:60:10:116,0,255	.	0/1:104:23:180,0,255	0/1:77:17:154,0,255	0/1:60:10:83,0,255	0/1:86:19:180,0,255	0/1:97:18:74,0,255	0/1:98:14:59,0,255	0/1:84:15:86,0,255	0/1:64:23:255,0,255	0/1:85:11:96,0,255	0/1:66:12:130,0,255	.	0/1:113:19:131,0,255	0/1:77:19:173,0,255	0/1:97:28:246,0,255	0/1:94:31:255,0,255	.	0/1:87:17:189,0,255	0/1:85:20:183,0,255	0/1:75:14:164,0,255	0/1:90:17:151,0,255	.	0/1:81:11:73,0,255	0/1:62:15:201,0,255	A	T	0	21	.	.	.	.		.	.	.	.	.	.	.	
L	17	39406203	rs200182486	C	T	222	PASS	KRTAP9-4	keratin associated protein 9-4	exonic	NM_033191	.	synonymous SNV	KRTAP9-4:NM_033191:exon1:c.C231T:p.S77S	ENST00000334109.2	.	17q21.2	.	.	Score=827;Name=V$GR_Q6	.	.	rs200182486	.	.	0.013289	0.0109	0.00219649	.	0.0007	0.0089	0.013289	0.012019203726	.	.	.	.	.	.	.	.	-1.048	-0.839	.	.	AC=2;AN=4;BQB=0.773948;DP4=33,21,44,18;DP=159;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.906801;MQSB=0.140459;RPB=0.91594;SF=5,20;SGB=-0.693145;VDB=0.721036	GT:DP:DV:PL	.	.	.	.	.	0/1:71:41:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:21:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	17	39594980	rs80116505	C	T	222	PASS	KRT38	keratin 38, type I	exonic	NM_006771	.	missense SNV	KRT38:NM_006771:exon4:c.G863A:p.R288H	ENST00000246646.3	.	17q21.2	.	.	.	Score=0.915654;Name=chr17:39577594	.	rs80116505	.	.	0.0265781	0.0208	0.00519169	0.0008	0.0051	0.0170	0.0183767156202	0.0216346342548	0.061,T	0.016,B	0.083,B	0.995415,N	0.094366,N	1.82,L	-2.6,D	4.9928	0.078	-0.108	4.124651,23.8	.	AC=2;AN=4;BQB=0.398334;DP4=95,63,107,56;DP=404;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.992434;MQSB=0.988214;RPB=0.933157;SF=5,20;SGB=-0.693147;VDB=0.766771	GT:DP:DV:PL	.	.	.	.	.	0/1:212:102:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:109:61:255,0,255	.	.	.	.	C	T	0	2	Keratin 38	.	.	.	10391933|9756910	.	.	STRUCTURAL_MOLECULE_ACTIVITY	.	.	.	.	
M	17	39642738	rs12051598	G	A	222	PASS	KRT36	keratin 36, type I	exonic	NM_003771	.	missense SNV	KRT36:NM_003771:exon7:c.C1294T:p.P432S	ENST00000328119.6,ENST00000393986.2	.	17q21.2	.	.	Score=828;Name=V$HEN1_01	.	.	rs12051598	.	.	0.0232558	0.0248	0.00539137	0.0002	0.0023	0.0304	0.0176110245023	0.0192307585337	0.479,T	0.001,B	0.0,B	0.999431,N	0.025355,N	1.21,L	-1.4,T	5.2277	-0.101	0.242	.	.	AC=3;AN=6;BQB=0.104741;DP4=70,18,55,21;DP=230;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0636204;SF=6,14,20;SGB=-0.692562;VDB=0.0325069	GT:DP:DV:PL	.	.	.	.	.	.	0/1:44:22:255,0,255	.	.	.	.	.	.	.	0/1:62:25:255,0,255	.	.	.	.	.	0/1:58:29:255,0,255	.	.	.	.	G	A	0	3	Keratin 36	.	.	.	10391933|9756910|2458293	.	.	.	.	.	.	.	
L	17	40120250	rs138346889	C	T	222	PASS	CNP	2',3'-cyclic nucleotide 3' phosphodiesterase	exonic	NM_033133	.	synonymous SNV	CNP:NM_033133:exon2:c.C168T:p.R56R	ENST00000472031.1,ENST00000592446.1,ENST00000591072.1,ENST00000393888.1,ENST00000393892.3	CpG: 22	17q21.2	.	.	.	.	.	rs138346889	.	.	0.0215947	0.0218	0.00459265	7.8e-05	0.0033	0.0213	0.0215947	0.018028856851	.	.	.	.	.	.	.	.	-3.145	-5.466	1.677008,14.28	.	AC=1;AN=2;BQB=0.746613;DP4=32,13,27,15;DP=121;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.62316;SF=20;SGB=-0.693146;VDB=0.0396419	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:87:42:255,0,255	.	.	.	.	C	T	0	1	2', 3' cyclic nucleotide 3' phosphohydrolase	.	.	.	12590258|11842207|11161808|8392017|8390968|2903254|2836557|2167669|1360194|1322358	CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	.	HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;CYCLIC_NUCLEOTIDE_PHOSPHODIESTERASE_ACTIVITY;PHOSPHORIC_DIESTER_HYDROLASE_ACTIVITY	.	.	.	.	
L	17	40849573	rs77725092	G	A	222	PASS	CNTNAP1	contactin associated protein 1	exonic	NM_003632	.	synonymous SNV	CNTNAP1:NM_003632:exon22:c.G3570A:p.E1190E	ENST00000592440.1,ENST00000264638.4	.	17q21.2	.	.	Score=798;Name=V$BACH1_01	.	.	rs77725092	.	.	0.0365449	0.0357	0.033746	0.0072	0.0190	0.0412	0.0283307940276	0.0312500346154	.	.	.	.	.	.	.	.	0.678	4.308	1.349362,12.53	3.5	AC=2;AN=4;BQB=0.949867;DP4=43,20,52,21;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.19088;SF=0,20;SGB=-0.693132;VDB=0.633727	GT:DP:DV:PL	0/1:60:34:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:39:255,0,255	.	.	.	.	G	A	0	2	Lethal congenital contracture syndrome 7, 616286 (3)	.	.	.	24319099|11395000|11069942|10769038|9118959	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	MOLECULAR_ADAPTOR_ACTIVITY;PROTEIN_BINDING_BRIDGING;RECEPTOR_ACTIVITY;SH3_SH2_ADAPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS	
L	17	42477189	rs3744426	A	G	222	PASS	GPATCH8	G patch domain containing 8	exonic	NM_001002909,NM_001304939,NM_001304940,NM_001304941,NM_001304942,NM_001304943	.	synonymous SNV	GPATCH8:NM_001304943:exon5:c.T2022C:p.D674D,GPATCH8:NM_001304939:exon7:c.T2181C:p.D727D,GPATCH8:NM_001304942:exon7:c.T2022C:p.D674D,GPATCH8:NM_001002909:exon8:c.T2256C:p.D752D,GPATCH8:NM_001304941:exon9:c.T2022C:p.D674D,GPATCH8:NM_001304940:exon10:c.T2022C:p.D674D	ENST00000591680.1,ENST00000434000.1	.	17q21.31	.	.	.	.	.	rs3744426	.	.	0.0315615	0.0337	0.00678914	0.0006	0.0035	0.0360	0.0336906957121	0.0324519483173	.	.	.	.	.	.	.	.	0.410	-0.100	.	.	AC=2;AN=4;BQB=0.965455;DP4=35,16,52,15;DP=168;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.717327;SF=20,22;SGB=-0.693147;VDB=0.703908	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:48:255,0,255	.	0/1:38:19:255,0,255	.	.	A	G	0	2	G-patch domain-containing protein 8	.	.	.	21594610|15498521|9628581	.	.	.	.	.	.	.	
M	17	43246901	rs144171786	A	G	222	PASS	HEXIM2	hexamethylene bis-acetamide inducible 2	exonic	NM_001303436,NM_001303437,NM_001303438,NM_001303439,NM_001303440,NM_001303441,NM_001303442,NM_001303443,NM_001303444,NM_144608	.	missense SNV	HEXIM2:NM_001303436:exon3:c.A652G:p.T218A,HEXIM2:NM_001303438:exon3:c.A586G:p.T196A,HEXIM2:NM_001303439:exon3:c.A586G:p.T196A,HEXIM2:NM_001303440:exon3:c.A586G:p.T196A,HEXIM2:NM_001303442:exon3:c.A586G:p.T196A,HEXIM2:NM_001303444:exon3:c.A586G:p.T196A,HEXIM2:NM_001303437:exon4:c.A586G:p.T196A,HEXIM2:NM_001303441:exon4:c.A586G:p.T196A,HEXIM2:NM_001303443:exon4:c.A586G:p.T196A,HEXIM2:NM_144608:exon4:c.A586G:p.T196A	ENST00000589796.1,ENST00000591576.1,ENST00000592695.1,ENST00000307275.3	CpG: 25	17q21.31	.	.	.	.	.	rs144171786	.	.	0.0232558	0.0169	0.00399361	0.0002	0.0031	0.0279	0.0145482309954	0.0192307585337	1.0,T	0.003,B	0.0,B	0.953781,N	0.001025,N	0.315,N	.	11.8026	-0.458	1.617	.	.	AC=1;AN=2;BQB=0.797812;DP4=23,25,20,31;DP=122;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.298812;SF=20;SGB=-0.693147;VDB=0.0608187	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:51:255,0,255	.	.	.	.	A	G	0	1	Hexamethylene bis acetamide-inducible protein 2	.	.	.	15713662|15713661|12832472	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_TRANSFERASE_ACTIVITY;NEGATIVE_REGULATION_OF_CELL_CYCLE;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_CYCLIN_DEPENDENT_PROTEIN_KINASE_ACTIVITY;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE	CYTOPLASM;NUCLEUS	ENZYME_REGULATOR_ACTIVITY;KINASE_REGULATOR_ACTIVITY;RNA_BINDING;PROTEIN_KINASE_INHIBITOR_ACTIVITY;KINASE_INHIBITOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PROTEIN_KINASE_REGULATOR_ACTIVITY	.	.	.	.	
H	17	43483413	rs142833021	C	T	222	PASS	ARHGAP27	Rho GTPase activating protein 27	exonic	NM_001282290	.	missense SNV	ARHGAP27:NM_001282290:exon2:c.G694A:p.E232K	ENST00000455881.1,ENST00000376922.2,ENST00000428638.1,ENST00000532038.1,ENST00000442348.1,ENST00000532891.2	CpG: 33	17q21.31	.	.	.	.	.	rs142833021	.	.	0.0232558	0.0208	0.00439297	.	0.0025	0.0385	0.0184659	0.0240384634615	0.03,D	0.003,B	0.003,B	1,N	.	2.32,M	0.93,T	7.0142	0.144	-0.106	1.780618,14.87	.	AC=2;AN=4;BQB=0.662176;DP4=53,41,42,66;DP=279;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993719;SF=2,20;SGB=-0.693147;VDB=0.0069732	GT:DP:DV:PL	.	.	0/1:103:54:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:99:54:255,0,255	.	.	.	.	C	T	0	2	RHO GTPase-activating protein 27	.	.	.	15492870|15147912	REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_HYDROLASE_ACTIVITY;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;REGULATION_OF_SIGNAL_TRANSDUCTION;RAS_PROTEIN_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_PROTEIN_SIGNAL_TRANSDUCTION;POSITIVE_REGULATION_OF_HYDROLASE_ACTIVITY;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RHO_GTPASE_ACTIVITY;TRANSPORT;REGULATION_OF_CATALYTIC_ACTIVITY;VESICLE_MEDIATED_TRANSPORT;REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;RECEPTOR_MEDIATED_ENDOCYTOSIS;REGULATION_OF_GTPASE_ACTIVITY;CDC42_PROTEIN_SIGNAL_TRANSDUCTION;INTRACELLULAR_SIGNALING_CASCADE;SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION;REGULATION_OF_RAS_GTPASE_ACTIVITY;RHO_PROTEIN_SIGNAL_TRANSDUCTION	.	PROTEIN_DOMAIN_SPECIFIC_BINDING;RAS_GTPASE_ACTIVATOR_ACTIVITY;GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;SH3_DOMAIN_BINDING;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;RHO_GTPASE_ACTIVATOR_ACTIVITY;GTPASE_ACTIVATOR_ACTIVITY	.	.	.	.	
L	17	44060857	rs142327009	C	G	222	PASS	MAPT	microtubule-associated protein tau	exonic	NM_001123066,NM_016835	.	synonymous SNV	MAPT:NM_001123066:exon6:c.C687G:p.P229P,MAPT:NM_016835:exon6:c.C687G:p.P229P	ENST00000415613.2,ENST00000571987.1,ENST00000334239.8,ENST00000344290.5,ENST00000574436.1,ENST00000262410.5,ENST00000446361.3,ENST00000340799.5,ENST00000420682.2,ENST00000347967.5,ENST00000431008.3,ENST00000351559.5,ENST00000535772.1,ENST00000576518.1,ENST00000570299.1	.	17q21.31	.	.	.	.	.	rs142327009	.	.	0.00498339	0.004	0.00339457	0.0009	0.0005	0.0016	0.00306278528331	0.00498339	.	.	.	.	.	.	.	.	-0.551	-0.632	.	.	AC=1;AN=2;BQB=0.89464;DP4=17,13,23,9;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991087;SF=20;SGB=-0.69312;VDB=0.695023	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:62:32:255,0,255	.	.	.	.	C	G	0	1	Dementia, frontotemporal, with or without parkinsonism, 600274 (3); Pick disease, 172700 (3); Supranuclear palsy, progressive, 601104 (3); Supranuclear palsy, progressive atypical, 260540 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	26176913|22660329|22286308|21403021|21391235|20466736|20357768|20159774|20116045|19786698|19557862|19458322|19365643|19273536|19165922|18991351|18930955|18509094|18202255|17923640|17683088|17514749|17478722|17360687|17270732|16950154|16446437|16315267|16240366|16195395|16157753|16020737|16000317|15883319|15792962|15732111|15654335|15474313|15365985|15297935|15249677|15115761|14991829|14991828|14991810|14962978|14755449|14705119|14595660|14517953|12886013|12796837|12722177|12714745|12509859|12473774|12368474|12325083|12177374|12112206|12112079|12056929|12032355|11971082|11971081|11959919|11921059|11912108|11906000|11901170|11891833|11889249|11710889|11641718|11601501|11520988|11520987|11456301|11445645|11402146|11343650|11278002|11255441|11220749|11117553|11117542|11117541|11073810|11071507|11007782|10984497|10932182|10822460|10805746|10802785|10767321|10702411|10612815|10604746|10595944|10595524|10574462|10571241|10553987|10514099|10489057|10412802|10393977|10391244|10374757|10208578|10202939|10090741|10072441|9973279|9856453|9836646|9789048|9641683|9636220|9629852|9382467|9029080|9029063|8994831|8926492|8673924|8244380|8088851|7977375|7936288|3131773|2498079|2484340|1420178|1416801	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;REGULATION_OF_ANATOMICAL_STRUCTURE_MORPHOGENESIS;MICROTUBULE_BASED_PROCESS;REGULATION_OF_AXONOGENESIS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_POLYMERIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_POLYMERIZATION;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_ORGANELLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_NEUROGENESIS;NEUROGENESIS;REGULATION_OF_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_METABOLIC_PROCESS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;MICROTUBULE_POLYMERIZATION_OR_DEPOLYMERIZATION	ORGANELLE_PART;AXON;MICROTUBULE_ASSOCIATED_COMPLEX;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSOL;CYTOSKELETON;MICROTUBULE;CELL_PROJECTION;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;SITE_OF_POLARIZED_GROWTH;GROWTH_CONE;NEURON_PROJECTION;PLASMA_MEMBRANE	PROTEIN_DOMAIN_SPECIFIC_BINDING;SH3_DOMAIN_BINDING;MICROTUBULE_BINDING;LIPOPROTEIN_BINDING;TUBULIN_BINDING;STRUCTURAL_MOLECULE_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON;ENZYME_BINDING	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_ALZHEIMERS_DISEASE	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_REELINPATHWAY;PID_LKB1_PATHWAY;PID_P38GAMMADELTAPATHWAY	BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_P35ALZHEIMERS_PATHWAY	REACTOME_APOPTOTIC_CLEAVAGE_OF_CELLULAR_PROTEINS;REACTOME_CASPASE_MEDIATED_CLEAVAGE_OF_CYTOSKELETAL_PROTEINS;REACTOME_APOPTOSIS;REACTOME_APOPTOTIC_EXECUTION_PHASE	
H	17	44115984	.	G	A	222	PASS	KANSL1	KAT8 regulatory NSL complex subunit 1	exonic	NM_001193465,NM_001193466,NM_015443	.	missense SNV	KANSL1:NM_001193466:exon10:c.C2461T:p.P821S,KANSL1:NM_015443:exon10:c.C2461T:p.P821S,KANSL1:NM_001193465:exon11:c.C2461T:p.P821S	ENST00000575318.1,ENST00000432791.1,ENST00000572904.1,ENST00000393476.3,ENST00000262419.6,ENST00000574590.1	.	17q21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102,T	0.998,D	1.0,D	0.999859,D	0.000000,D	1.525,L	1.78,T	17.2897	2.861	6.142	3.457811,23.0	6.03	AC=1;AN=2;BQB=0.944182;DP4=32,7,27,3;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=20;SGB=-0.693097;VDB=0.163414	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:69:30:255,0,255	.	.	.	.	G	A	0	1	Koolen-De Vries syndrome, 610443 (3)	.	.	.	22544367|22544363|20551180|16227571|10574462	.	.	.	.	.	.	.	PM2
L	17	46266849	rs66753385	G	A	222	PASS	SKAP1	src kinase associated phosphoprotein 1	exonic	NM_001075099,NM_003726	.	synonymous SNV	SKAP1:NM_001075099:exon5:c.C294T:p.I98I,SKAP1:NM_003726:exon5:c.C294T:p.I98I	ENST00000584924.1,ENST00000336915.6,ENST00000582246.1	.	17q21.32	.	.	.	.	.	rs66753385	.	.	0.0398671	0.0556	0.0357428	0.0301	0.0352	0.0362	0.0275651042879	0.0372596132212	.	.	.	.	.	.	.	.	0.026	0.334	1.456017,13.08	.	AC=2;AN=4;BQB=0.952847;DP4=22,26,26,17;DP=123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.940701;SF=17,20;SGB=-0.689466;VDB=0.0566878	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:16:255,0,255	.	.	0/1:49:27:255,0,255	.	.	.	.	G	A	0	2	SRC kinase-associated phosphoprotein 1, 55kD	.	.	.	21669874|12652296|9195899	SIGNAL_TRANSDUCTION;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;MOLECULAR_ADAPTOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;PROTEIN_BINDING_BRIDGING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;SH3_SH2_ADAPTOR_ACTIVITY	.	.	.	.	
H	17	46608203	rs12950537	A	G	62	PASS	HOXB1	homeobox B1	exonic	NM_002144	.	missense SNV	HOXB1:NM_002144:exon1:c.T64C:p.Y22H	ENST00000239174.6,ENST00000577092.1	CpG: 41	17q21.32	.	.	.	.	.	rs12950537	.	.	.	.	.	.	0.0002	0.0002	.	.	0.054,T	0.018,B	0.034,B	0.999788,D	0.000931,D	2.205,M	-2.53,D	9.5897	0.955	3.591	1.401441,12.80	3.46	AC=2;AN=4;BQB=0.00332824;DP4=45,50,17,6;DP=178;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=2.50492e-05;SF=0,20;SGB=-0.676189;VDB=7.49252e-08	GT:DP:DV:PL	0/1:51:11:105,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:67:12:90,0,255	.	.	.	.	A	G	0	2	Facial paresis, hereditary congenital, 3, 614744 (3)	.	.	.	22770981|16760928|8967950|8898234|8646877	PATTERN_SPECIFICATION_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT	.	PROTEIN_DOMAIN_SPECIFIC_BINDING	.	.	.	.	
L	17	46620862	rs560031603	G	A	222	PASS	HOXB2	homeobox B2	exonic	NM_002145	.	synonymous SNV	HOXB2:NM_002145:exon2:c.C639T:p.A213A	ENST00000330070.4	CpG: 84	17q21.32	.	.	Score=773;Name=V$MYOGNF1_01	.	.	rs560031603	.	.	0.00166113	0.001	0.000399361	.	0.0003	0.0017	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.135	0.039	.	.	AC=1;AN=2;BQB=0.09712;DP4=21,5,18,8;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.885075;SF=20;SGB=-0.692976;VDB=0.213685	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:26:255,0,255	.	.	.	.	G	A	0	1	Homeo box-B2	.	.	.	16079151|10230789|9012503|7876223|7753831	MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SYSTEM_PROCESS	NUCLEUS	.	.	.	.	.	
H	17	47241527	rs541343923	A	G	222	PASS	B4GALNT2	beta-1,4-N-acetyl-galactosaminyl transferase 2	exonic	NM_001159387,NM_001159388,NM_153446	.	missense SNV	B4GALNT2:NM_001159387:exon8:c.A844G:p.S282G,B4GALNT2:NM_001159388:exon8:c.A766G:p.S256G,B4GALNT2:NM_153446:exon8:c.A1024G:p.S342G	ENST00000393354.2,ENST00000504681.1,ENST00000300404.2	.	17q21.32	.	.	.	.	.	rs541343923	.	.	0.00166113	0.005	0.000998403	.	0.0002	0.0031	0.00166113	0.00166113	0.0,D	0.986,D	1.0,D	0.999973,D	0.000000,D	4.205,H	-0.65,T	14.7048	2.117	8.384	5.927680,27.6	5.58	AC=1;AN=2;BQB=0.998158;DP4=18,11,16,9;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.986512;SF=20;SGB=-0.692914;VDB=0.126773	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:25:255,0,255	.	.	.	.	A	G	0	1	Beta-1,4-N-acetyl-galactosaminyl transferase 2	.	.	.	12678917|9989502|8986815|8782649|7515051|2124152	AMINO_SUGAR_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_ADHESION;NITROGEN_COMPOUND_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELL_ADHESION;CELL_CELL_ADHESION;NUCLEOTIDE_SUGAR_METABOLIC_PROCESS;AMINE_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;REGULATION_OF_CELL_CELL_ADHESION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;UDP_GLYCOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS;ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY	.	.	.	.	PP3
L	17	48774319	rs3815378	G	A	188.5	PASS	ANKRD40	ankyrin repeat domain 40	exonic	NM_052855	.	synonymous SNV	ANKRD40:NM_052855:exon4:c.C942T:p.P314P	ENST00000285243.6	.	17q21.33	.	.	Score=892;Name=V$HLF_01	.	.	rs3815378	.	.	0.0299003	0.0327	0.0429313	0.0292	0.0203	0.0499	0.0336906338438	0.0360576653846	.	.	.	.	.	.	.	.	1.442	0.949	1.078706,11.10	3.39	AC=2;AN=4;BQB=0.998458;DP4=27,5,16,3;DP=69;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.93688;SF=3,20;SGB=-0.651104;VDB=0.0241445	GT:DP:DV:PL	.	.	.	0/1:26:8:192,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:11:252,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	17	48918326	rs142226356	G	A	205.67	PASS	WFIKKN2	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	exonic	NM_175575	.	synonymous SNV	WFIKKN2:NM_175575:exon2:c.G1677A:p.E559E	ENST00000311378.4,ENST00000572491.2,ENST00000426127.1	.	17q21.33	.	.	Score=900;Name=V$CREBP1CJUN_01	.	.	rs142226356	.	.	0.0348837	0.0367	0.0157748	0.0077	0.0150	0.0496	0.0245022874426	0.027644215024	.	.	.	.	.	.	.	.	1.287	2.416	.	4.15	AC=3;AN=6;BQB=0.990726;DP4=8,14,19,14;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.550861;SF=16,18,20;SGB=-0.686358;VDB=0.321842	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:14:255,0,212	.	0/1:13:8:206,0,118	.	0/1:20:11:255,0,250	.	.	.	.	G	A	0	3	WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing protein 2	.	.	.	11928817|11274388	.	.	.	.	.	.	.	
M	17	55072931	rs16957938	G	A	222	PASS	SCPEP1	serine carboxypeptidase 1	exonic	NM_021626	.	missense SNV	SCPEP1:NM_021626:exon8:c.G721A:p.V241I	ENST00000262288.3	.	17q22	.	.	Score=860;Name=V$FREAC7_01	.	.	rs16957938	.	.	0.00498339	0.003	0.00459265	0.0025	0.0020	0.0006	0.00498339	0.00498339	0.896,T	0.025,B	0.032,B	0.999995,N	0.009303,N	0.48,N	-2.03,D	4.7062	-1.117	-0.287	.	.	AC=1;AN=2;BQB=0.885846;DP4=6,5,7,5;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.983099;SF=20;SGB=-0.680642;VDB=0.0891378	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	60522242	.	G	A	222	PASS	METTL2A	methyltransferase like 2A	exonic	NM_181725	.	missense SNV	METTL2A:NM_181725:exon7:c.G854A:p.G285D	ENST00000311506.5	.	17q23.2	.	.	Score=857;Name=V$SREBP1_02	Score=0.970671;Name=chr7:128104349	.	.	.	.	.	.	.	.	.	.	.	.	0.0,D	0.994,D	0.998,D	1,D	0.000000,D	3.29,M	1.69,T	16.4868	2.309	9.333	5.641941,26.6	4.62	AC=1;AN=2;BQB=0.978485;DP4=9,6,9,12;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.813898;SF=20;SGB=-0.692352;VDB=0.0275933	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:21:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2,PP3
L	17	61620942	rs183418801	C	T	222	PASS	KCNH6	potassium channel, voltage gated eag related subfamily H, member 6	exonic	NM_001278919,NM_001278920,NM_030779,NM_173092	.	synonymous SNV	KCNH6:NM_001278919:exon10:c.C2154T:p.A718A,KCNH6:NM_001278920:exon10:c.C1785T:p.A595A,KCNH6:NM_030779:exon10:c.C2154T:p.A718A,KCNH6:NM_173092:exon11:c.C1995T:p.A665A	ENST00000314672.5,ENST00000456941.2,ENST00000581784.1,ENST00000583023.1	.	17q23.3	.	.	.	.	.	rs183418801	.	.	0.00996678	0.0079	0.00159744	.	0.0007	0.0095	0.00842266434916	0.00996678	.	.	.	.	.	.	.	.	-0.787	-2.233	2.573171,19.94	.	AC=1;AN=2;BQB=0.749809;DP4=22,11,25,12;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99558;SF=20;SGB=-0.693141;VDB=0.219928	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:70:37:255,0,255	.	.	.	.	C	T	0	1	Potassium channel, voltage-gated, subfamily H, member 6	.	.	.	14515244	.	.	.	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	
L	17	62854942	rs182500146	C	G	216.5	PASS	LRRC37A3	leucine rich repeat containing 37, member A3	exonic	NM_001303255,NM_199340	.	synonymous SNV	LRRC37A3:NM_001303255:exon9:c.G2118C:p.V706V,LRRC37A3:NM_199340:exon13:c.G4764C:p.V1588V	ENST00000339474.5,ENST00000334962.5,ENST00000400877.3,ENST00000584306.1,ENST00000319651.5	.	17q24.1	.	.	.	Score=0.988517;Name=chr17:44568396	.	rs182500146	.	.	0.00996678	0.0069	0.00139776	.	0.0004	0.0060	0.00996678	0.00841346449519	.	.	.	.	.	.	.	.	0.207	-0.292	.	.	AC=2;AN=4;BQB=1;DP4=14,7,16,7;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991266;SF=4,20;SGB=-0.662043;VDB=0.386322	GT:DP:DV:PL	.	.	.	.	0/1:18:9:244,0,245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:14:255,0,255	.	.	.	.	C	G	0	2	Leucine-rich repeat-containing protein 37A3	.	.	.	23064749	.	.	.	.	.	.	.	
L	17	62856107	rs371322596	T	C	222	PASS	LRRC37A3	leucine rich repeat containing 37, member A3	exonic	NM_001303255,NM_199340	.	missense SNV	LRRC37A3:NM_001303255:exon8:c.A1511G:p.N504S,LRRC37A3:NM_199340:exon12:c.A4157G:p.N1386S	ENST00000339474.5,ENST00000334962.5,ENST00000400877.3,ENST00000584306.1,ENST00000319651.5	.	17q24.1	.	.	.	Score=0.988517;Name=chr17:44568396	.	rs371322596	.	.	0.00332226	0.002	0.000399361	.	0.0002	0.0021	0.00332226	0.00332226	0.708,T	0.007,B	0.005,B	1,N	.	-0.345,N	0.36,T	2.7043	-0.430	-1.677	.	.	AC=1;AN=2;BQB=0.567231;DP4=22,21,20,21;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.983315;MQSB=0.982508;RPB=0.973297;SF=20;SGB=-0.693145;VDB=0.302657	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:84:41:255,0,255	.	.	.	.	T	C	0	1	Leucine-rich repeat-containing protein 37A3	.	.	.	23064749	.	.	.	.	.	.	.	
L	17	62892873	rs2461356	T	C	38.26	PASS	LRRC37A3	leucine rich repeat containing 37, member A3	exonic	NM_199340	.	missense SNV	LRRC37A3:NM_199340:exon4:c.A503G:p.H168R	ENST00000339474.5,ENST00000584959.1,ENST00000400877.3,ENST00000584131.1,ENST00000584306.1,ENST00000319651.5	.	17q24.1	.	.	.	Score=0.988517;Name=chr17:44568396	.	rs2461356	.	.	.	.	.	.	6.124e-05	0	.	0.0521739	0.865,T	0.0,B	0.0,B	1,N	.	1.04,L	0.41,T	4.3519	-0.526	-0.583	.	.	AC=2;AN=4;BQB=0.774616;DP4=34,19,25,0;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=3.58827e-07;MQSB=0.758192;RPB=0.110902;SF=2,20;SGB=-0.688148;VDB=0.00283895	GT:DP:DV:PL	.	.	0/1:46:15:72,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:10:74,0,255	.	.	.	.	T	C	0	2	Leucine-rich repeat-containing protein 37A3	.	.	.	23064749	.	.	.	.	.	.	.	
L	17	65850501	rs187105541	A	G	216	PASS	BPTF	bromodomain PHD finger transcription factor	exonic	NM_004459,NM_182641	.	synonymous SNV	BPTF:NM_004459:exon2:c.A1059G:p.P353P,BPTF:NM_182641:exon2:c.A1059G:p.P353P	ENST00000321892.4,ENST00000424123.3,ENST00000306378.6,ENST00000335221.5	.	17q24.2	.	.	.	.	.	rs187105541	.	.	0.00830565	0.0069	0.00139776	.	0.0002	0.0029	0.00830565	0.00721154110577	.	.	.	.	.	.	.	.	-3.473	-2.182	.	.	AC=1;AN=2;BQB=0.92205;DP4=8,11,4,9;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.837906;SF=20;SGB=-0.683931;VDB=0.165646	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:13:249,0,255	.	.	.	.	A	G	0	1	Bromodomain PHD finger transcription factor	.	.	.	16728978|16728976|11583616|10662542|8975731|8950167|7621746	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;CHROMATIN_REMODELING;NERVOUS_SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_GENE_SPECIFIC_TRANSCRIPTION;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_RNA_METABOLIC_PROCESS;CHROMATIN_MODIFICATION;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASM;NUCLEUS	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;SEQUENCE_SPECIFIC_DNA_BINDING;DNA_DEPENDENT_ATPASE_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;ATPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;DNA_BINDING	.	.	.	.	
H	17	66914191	rs117020693	C	A	222	PASS	ABCA8	ATP-binding cassette, sub-family A (ABC1), member 8	exonic	NM_001288985,NM_001288986,NM_007168	.	missense SNV	ABCA8:NM_007168:exon14:c.G1924T:p.A642S,ABCA8:NM_001288986:exon15:c.G2044T:p.A682S,ABCA8:NM_001288985:exon16:c.G2044T:p.A682S	ENST00000430352.2,ENST00000586539.1,ENST00000269080.2	.	17q24.2	.	.	Score=776;Name=V$YY1_02	.	.	rs117020693	.	.	0.0481728	0.0427	0.00858626	.	0.0022	0.0305	0.0290965022971	0.0384615752404	0.0,D	0.99,D	0.999,D	0.999804,D	0.007265,N	0.76,N	-0.33,T	12.6861	1.091	7.251	5.859329,27.3	3.25	AC=2;AN=4;BQB=0.960308;DP4=32,12,26,12;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.391049;SF=3,20;SGB=-0.69168;VDB=0.45747	GT:DP:DV:PL	.	.	.	0/1:48:19:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:19:255,0,255	.	.	.	.	C	A	0	2	ATP-binding cassette, subfamily A, member 8	.	.	.	12379217|11478798|10048485	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDESCATALYZING_TRANSMEMBRANE_MOVEMENT_OF_SUBSTANCES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;PRIMARY_ACTIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ATPASE_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PYROPHOSPHATASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED_TO_MOVEMENT_OF_SUBSTANCES	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
L	17	70643798	rs146577169	A	G	195.25	PASS	SLC39A11	solute carrier family 39, member 11	exonic	NM_001159770,NM_139177	.	synonymous SNV	SLC39A11:NM_001159770:exon10:c.T954C:p.G318G,SLC39A11:NM_139177:exon10:c.T933C:p.G311G	ENST00000255559.3,ENST00000579988.1,ENST00000542342.2	.	17q24.3	.	.	Score=822;Name=V$IRF7_01	.	.	rs146577169	.	.	0.0348837	0.0347	0.00698882	.	0.0024	0.0322	0.0275650647779	0.0300480605769	.	.	.	.	.	.	.	.	-0.887	-0.874	.	.	AC=4;AN=8;BQB=0.82972;DP4=48,14,34,10;DP=152;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.281166;SF=0,1,19,20;SGB=-0.688148;VDB=0.964515	GT:DP:DV:PL	0/1:29:15:255,0,255	0/1:27:9:230,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:8:174,0,233	0/1:25:12:255,0,255	.	.	.	.	A	G	0	4	Solute carrier family 39 (zinc transporter), member 11	.	.	.	23643525|11707075	.	.	.	.	.	.	.	
H	17	71747317	rs148360285	C	T	222	PASS	LOC100134391	uncharacterized LOC100134391	exonic	NM_001278587	.	missense SNV	LOC100134391:NM_001278587:exon4:c.C347T:p.P116L	ENST00000321800.7,ENST00000583854.1	.	17q25.1	.	.	.	.	.	rs148360285	.	.	0	0.003	0.000599042	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.514	-4.988	.	.	AC=1;AN=2;BQB=0.959869;DP4=18,9,16,12;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.979799;SF=20;SGB=-0.693054;VDB=0.0746298	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:28:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	17	72832329	rs574674425	G	A	222	PASS	TMEM104	transmembrane protein 104	exonic	NM_017728	.	missense SNV	TMEM104:NM_017728:exon10:c.G994A:p.D332N	ENST00000335464.5,ENST00000582773.1,ENST00000582330.1,ENST00000417024.2	CpG: 43	17q25.1	.	.	.	.	.	rs574674425	.	.	.	.	.	.	8.244e-05	0.0009	.	.	0.062,T	0.37,B	0.928,P	1,D	0.000016,D	1.955,M	4.42,T	14.0338	1.346	4.045	4.537862,24.3	4.29	AC=1;AN=2;BQB=0.923192;DP4=61,21,62,15;DP=210;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.204441;SF=20;SGB=-0.693147;VDB=0.897901	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:159:77:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	72889676	rs4319809	G	C	221.2	PASS	FADS6	fatty acid desaturase 6	exonic	NM_178128	.	synonymous SNV	FADS6:NM_178128:exon1:c.C18G:p.P6P	ENST00000310226.6	CpG: 80	17q25.1	.	.	.	.	.	rs4319809	.	.	.	.	.	.	.	.	0.120739	0.0608696	.	.	.	.	.	.	.	.	1.001	-0.559	.	.	AC=25;AN=50;BQB=0.0623857;DP4=1051,369,893,138;DP=3792;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.943453;MQSB=0.986219;RPB=7.0947e-07;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692976;VDB=1.17106e-08	GT:DP:DV:PL	0/1:66:26:255,0,255	0/1:85:39:255,0,255	0/1:78:38:255,0,255	0/1:94:50:255,0,255	0/1:80:31:255,0,255	0/1:207:71:255,0,255	0/1:99:42:255,0,255	0/1:110:54:255,0,255	0/1:51:17:255,0,255	0/1:46:18:236,0,255	0/1:87:33:255,0,255	0/1:71:34:255,0,255	0/1:49:19:255,0,255	0/1:155:69:255,0,255	0/1:122:64:255,0,255	0/1:63:26:255,0,255	0/1:78:39:255,0,255	0/1:58:22:255,0,255	0/1:80:37:255,0,255	0/1:107:50:255,0,255	0/1:94:32:255,0,255	0/1:201:72:255,0,255	0/1:58:26:255,0,255	0/1:165:68:255,0,255	0/1:147:54:255,0,255	G	C	0	25	.	.	.	.		.	.	.	.	.	.	.	
H	17	73498339	rs370188421	G	A	222	PASS	CASKIN2	CASK interacting protein 2	exonic	NM_001142643,NM_020753	.	missense SNV	CASKIN2:NM_001142643:exon17:c.C2570T:p.T857M,CASKIN2:NM_020753:exon18:c.C2816T:p.T939M	ENST00000433559.2,ENST00000321617.3	CpG: 22	17q25.1	.	.	Score=828;Name=V$NFKB_Q6	.	.	rs370188421	.	.	0.00166113	0.002	0.000399361	.	0.0013	0.0138	0.00535987915773	0.00240384754808	0.135,T	0.266,B	0.968,D	1,N	0.005190,N	0.695,N	-0.27,T	12.5841	0.297	5.589	2.442030,19.09	2.98	AC=1;AN=2;BQB=0.913928;DP4=28,16,20,19;DP=115;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.684114;SF=20;SGB=-0.693144;VDB=0.635843	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:83:39:255,0,255	.	.	.	.	G	A	0	1	CASK-interacting protein 2	.	.	.	12040031|10574461	.	CYTOPLASM	.	.	.	.	.	
H	17	73609409	rs369107073	C	T	222	PASS	MYO15B	myosin XVB	exonic	NM_001309242	.	unknown	UNKNOWN	ENST00000578382.2	.	17q25.1	.	.	.	.	.	rs369107073	.	.	0.0215947	0.0169	0.00339457	.	0.0003	0.0159	0.0142045	0.0168269354567	.	.	.	.	.	.	.	.	2.496	5.260	2.313757,18.26	5.07	AC=1;AN=2;BQB=0.971441;DP4=15,14,11,7;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.629014;SF=20;SGB=-0.691153;VDB=0.158996	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:18:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	17	73999328	rs34670267	G	A	222	PASS	CDK3	cyclin-dependent kinase 3	exonic	NM_001258	.	missense SNV	CDK3:NM_001258:exon7:c.G641A:p.R214H	ENST00000567351.1,ENST00000448471.1,ENST00000425876.2	.	17q25.1	.	.	.	.	.	rs34670267	.	.	0.0448505	0.0367	0.00738818	7.7e-05	0.0027	0.0358	0.0359877545176	0.0372596153846	0.0,D	0.132,B	0.846,P	0.999946,D	0.000055,D	1,L	-0.2,T	13.2808	2.455	3.930	4.297457,24.0	4.72	AC=3;AN=6;BQB=0.793727;DP4=50,17,39,25;DP=185;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.470895;SF=10,20,24;SGB=-0.688148;VDB=0.482854	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:32:15:255,0,255	.	.	.	.	.	.	.	.	.	0/1:46:20:255,0,255	.	.	.	0/1:53:29:255,0,255	G	A	0	3	Cyclin-dependent kinase 3	.	.	.	11172011|7882308|1639063	CELL_PROLIFERATION_GO_0008283	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	.	.	.	.	
L	17	74288312	rs6501875	A	C	221	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	synonymous SNV	QRICH2:NM_032134:exon4:c.T1998G:p.V666V	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	rs6501875	.	.	0.00166113	0.003	0.00299521	.	9.959e-05	0.0001	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-2.589	-6.125	.	.	AC=1;AN=2;BQB=0.482102;DP4=57,21,22,25;DP=205;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=4.48001e-05;MQSB=0.0573958;RPB=0.00115717;SF=20;SGB=-0.693147;VDB=0.206193	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:125:47:255,0,255	.	.	.	.	A	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	74288330	.	C	T	177	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	synonymous SNV	QRICH2:NM_032134:exon4:c.G1980A:p.V660V	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.082	-5.860	.	.	AC=1;AN=2;BQB=0.874341;DP4=47,32,16,15;DP=164;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.000274793;MQSB=0.2578;RPB=0.231424;SF=20;SGB=-0.69311;VDB=0.992159	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:110:31:211,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	74288331	.	A	G	166	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	missense SNV	QRICH2:NM_032134:exon4:c.T1979C:p.V660A	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	0.387,T	0.002,B	0.001,B	1,N	.	-0.295,N	2.01,T	15.3198	-1.933	-4.108	.	.	AC=1;AN=2;BQB=0.854699;DP4=42,33,14,16;DP=164;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=7.9648e-05;MQSB=0.159132;RPB=0.211503;SF=20;SGB=-0.693097;VDB=0.986513	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:105:30:201,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	74288333	.	T	A	144	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	synonymous SNV	QRICH2:NM_032134:exon4:c.A1977T:p.G659G	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.167	-11.100	.	.	AC=1;AN=2;BQB=0.705761;DP4=49,35,14,15;DP=169;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=1.13322e-05;MQSB=0.112647;RPB=0.115618;SF=20;SGB=-0.693079;VDB=0.893124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:113:29:179,0,255	.	.	.	.	T	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	74288372	rs6501877	C	G	152.66	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	synonymous SNV	QRICH2:NM_032134:exon4:c.G1938C:p.V646V	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	rs6501877	.	.	.	.	.	.	0.0002	0.0002	.	.	.	.	.	.	.	.	.	.	-1.293	-9.945	.	.	AC=9;AN=18;BQB=0.771272;DP4=526,338,271,95;DP=1957;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.73057;MQSB=0.857316;RPB=2.52195e-19;SF=1,3,7,10,11,16,19,20,24;SGB=-0.693146;VDB=1.41394e-11	GT:DP:DV:PL	.	0/1:151:44:255,0,255	.	0/1:150:25:71,0,255	.	.	.	0/1:134:41:194,0,255	.	.	0/1:127:37:202,0,255	0/1:107:17:79,0,255	.	.	.	.	0/1:128:35:203,0,255	.	.	0/1:133:35:182,0,255	0/1:151:90:255,0,255	.	.	.	0/1:149:42:242,0,255	C	G	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	17	74288410	rs80109605	C	T	165.38	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	missense SNV	QRICH2:NM_032134:exon4:c.G1900A:p.G634S	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	rs80109605	.	.	.	.	.	.	0.0007	0	.	.	0.06,T	0.637,P	0.946,P	1,P	.	2.885,M	1.88,T	9.1736	1.089	0.238	2.642621,20.5	.	AC=8;AN=16;BQB=0.283259;DP4=658,326,123,188;DP=1758;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.859033;MQSB=0.913671;RPB=5.40659e-21;SF=1,7,10,16,19,20,23,24;SGB=-0.693147;VDB=9.84466e-18	GT:DP:DV:PL	.	0/1:145:47:255,0,255	.	.	.	.	.	0/1:150:37:221,0,255	.	.	0/1:157:40:202,0,255	.	.	.	.	.	0/1:135:40:255,0,255	.	.	0/1:142:33:185,0,255	0/1:196:38:100,0,255	.	.	0/1:183:26:127,0,255	0/1:187:50:255,0,255	C	T	0	8	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	74288421	rs6501878	A	T	214	PASS	QRICH2	glutamine rich 2	exonic	NM_032134	.	missense SNV	QRICH2:NM_032134:exon4:c.T1889A:p.I630K	ENST00000262765.5	.	17q25.1	.	.	.	.	Score=344;Name="1955472:A-rich(Low_complexity)"	rs6501878	.	.	0.00166113	0.006	0.0113818	.	0.0001	0	0.00166113	0.00166113	0.832,T	0.023,B	0.021,B	1,P	.	0.695,N	2.04,T	13.5155	-3.030	-8.857	.	.	AC=23,6;AN=44;BQB=0.647353;DP4=1022,384,1334,725;DP=4707;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.733954;MQSB=0.995509;RPB=0.0852438;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,23,24;SGB=-0.693147;VDB=0.0330156	GT:DP:DV:PL	0/1:151:67:255,0,255,.,.,.	1/2:126:126:255,255,90,255,0,255	0/1:159:61:255,0,255,.,.,.	0/1:175:69:255,0,255,.,.,.	0/1:149:58:255,0,255,.,.,.	.	0/1:167:67:255,0,255,.,.,.	1/2:150:150:255,255,37,255,0,255	0/1:165:60:255,0,255,.,.,.	0/1:107:43:255,0,255,.,.,.	1/2:157:157:255,255,41,255,0,255	0/1:130:47:255,0,255,.,.,.	0/1:138:61:255,0,255,.,.,.	0/1:221:85:255,0,255,.,.,.	0/1:181:84:255,0,255,.,.,.	0/1:161:68:255,0,255,.,.,.	1/2:130:129:255,255,73,255,0,255	0/1:118:49:255,0,255,.,.,.	.	1/2:148:145:255,255,57,255,0,255	1/1:180:180:255,255,0,.,.,.	0/1:204:95:255,0,255,.,.,.	.	0/1:165:75:255,0,255,.,.,.	1/2:183:183:255,255,168,255,0,255	A	G,T	1	21	.	.	.	.		.	.	.	.	.	.	.	
H	17	76803198	rs368958421	G	A	222	PASS	USP36	ubiquitin specific peptidase 36	exonic	NM_025090	.	missense SNV	USP36:NM_025090:exon14:c.C1928T:p.T643M	ENST00000542802.3,ENST00000449938.2,ENST00000312010.6	.	17q25.3	.	.	Score=829;Name=V$GR_Q6	.	.	rs368958421	.	.	.	.	.	7.7e-05	4.948e-05	0	.	.	0.0,D	0.828,P	0.999,D	0.99888,N	0.002165,N	1.995,M	1.72,T	14.4026	0.686	2.471	4.712663,24.6	3.54	AC=1;AN=2;BQB=0.756864;DP4=11,10,18,12;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.80919;SF=20;SGB=-0.693097;VDB=0.64801	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:30:255,0,255	.	.	.	.	G	A	0	1	Ubiquitin-specific protease 36	.	.	.	19039105|14715245|10819331	.	.	.	.	.	.	.	PM2
L	17	78184698	rs150750383	G	A	222	PASS	SGSH	N-sulfoglucosamine sulfohydrolase	exonic	NM_000199	.	synonymous SNV	SGSH:NM_000199:exon8:c.C1062T:p.A354A	ENST00000534910.1,ENST00000326317.6	CpG: 46	17q25.3	.	.	.	.	.	rs150750383	.	.	.	.	.	0.0002	0.0003	0	.	.	.	.	.	.	.	.	.	.	-4.124	-3.740	1.271869,12.12	.	AC=1;AN=2;BQB=0.828569;DP4=21,13,21,13;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.779812;SF=20;SGB=-0.693132;VDB=0.503194	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:34:255,0,255	.	.	.	.	G	A	0	1	Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)	.	.	.	21061399|18407553|15637719|12702166|12000360|11668611|11343308|11181566|10818207|10727844|10521831|9744479|9700599|9554748|9405287|9401012|9158154|8946167|7493035|6777119	CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;PROTEOGLYCAN_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	.	KEGG_GLYCOSAMINOGLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	REACTOME_HS_GAG_DEGRADATION;REACTOME_HEPARAN_SULFATE_HEPARIN_HS_GAG_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	PM2
L	17	78313633	rs772088606	G	A	222	PASS	RNF213	ring finger protein 213	exonic	NM_001256071	.	synonymous SNV	RNF213:NM_001256071:exon26:c.G5466A:p.P1822P	ENST00000508628.2,ENST00000582970.1	.	17q25.3	.	.	.	.	.	rs772088606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.217	-2.016	.	.	AC=1;AN=2;BQB=0.829029;DP4=14,11,13,13;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.584509;SF=20;SGB=-0.692976;VDB=0.166667	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:26:255,0,255	.	.	.	.	G	A	0	1	{Moyamoya disease 2, susceptibility to}, 607151 (3)	.	.	.	22931863|22377813|21799892|21048783|12112524|10997877	.	.	.	.	.	.	.	PM2
H	17	78360160	rs146990608	G	A	222	PASS	RNF213	ring finger protein 213	exonic	NM_001256071	.	missense SNV	RNF213:NM_001256071:exon62:c.G14650A:p.V4884I	ENST00000572151.1,ENST00000575034.1,ENST00000427003.3,ENST00000508628.2,ENST00000336301.6,ENST00000573394.1,ENST00000582970.1	.	17q25.3	.	.	.	.	.	rs146990608	.	.	0.00332226	0.002	0.000399361	7.7e-05	0.0001	0.0005	0.00332226	0.00332226	.	0.35,B	0.926,P	0.930615,N	0.000946,D	2.415,M	1.63,T	18.7045	2.426	4.178	4.283554,24.0	5.18	AC=1;AN=2;BQB=0.416155;DP4=7,15,13,8;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.194328;SF=20;SGB=-0.692352;VDB=0.0584422	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:21:255,0,255	.	.	.	.	G	A	0	1	{Moyamoya disease 2, susceptibility to}, 607151 (3)	.	.	.	22931863|22377813|21799892|21048783|12112524|10997877	.	.	.	.	.	.	.	
L	17	78727965	.	C	T	222	PASS	RPTOR	regulatory associated protein of MTOR, complex 1	exonic	NM_001163034,NM_020761	.	synonymous SNV	RPTOR:NM_001163034:exon6:c.C810T:p.P270P,RPTOR:NM_020761:exon6:c.C810T:p.P270P	ENST00000575542.1,ENST00000544334.2,ENST00000306801.3,ENST00000570891.1,ENST00000537330.1	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.412	0.327	1.803839,15.01	3.38	AC=1;AN=2;BQB=0.492108;DP4=9,16,6,15;DP=59;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998481;SF=20;SGB=-0.692352;VDB=0.104926	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:21:255,0,255	.	.	.	.	C	T	0	1	Regulatory-associated protein of MTOR	.	.	.	18497260|15923274|15173233|14608357|12150926|12150925|10718198	.	.	.	KEGG_MTOR_SIGNALING_PATHWAY;KEGG_INSULIN_SIGNALING_PATHWAY	PID_MET_PATHWAY;PID_LKB1_PATHWAY;PID_MTOR_4PATHWAY	.	REACTOME_INSULIN_RECEPTOR_SIGNALLING_CASCADE;REACTOME_REGULATION_OF_AMPK_ACTIVITY_VIA_LKB1;REACTOME_ENERGY_DEPENDENT_REGULATION_OF_MTOR_BY_LKB1_AMPK;REACTOME_PKB_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR;REACTOME_MTORC1_MEDIATED_SIGNALLING;REACTOME_PI3K_CASCADE	PM2
L	17	79219548	.	A	C	222	PASS	SLC38A10	solute carrier family 38, member 10	exonic	NM_001037984	.	synonymous SNV	SLC38A10:NM_001037984:exon16:c.T3168G:p.L1056L	ENST00000374759.3	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.957	-1.421	.	.	AC=1;AN=2;BQB=0.676274;DP4=21,26,22,11;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.745051;SF=20;SGB=-0.693127;VDB=0.362499	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:80:33:255,0,255	.	.	.	.	A	C	0	1	Solute carrier family 38 (amino acid transporter), member 10	.	.	.	23506890|18418736	.	.	.	.	.	.	.	PM2
H	17	79234089	rs539061325	G	A	222	PASS	SLC38A10	solute carrier family 38, member 10	exonic	NM_001037984,NM_138570	.	missense SNV	SLC38A10:NM_001037984:exon11:c.C1237T:p.R413W,SLC38A10:NM_138570:exon11:c.C1237T:p.R413W	ENST00000288439.5,ENST00000374759.3	.	17q25.3	.	.	.	.	.	rs539061325	.	.	0	.	0.000599042	.	0.0002	0	.	.	0.002,D	0.72,P	0.998,D	1,N	0.777589,U	1.445,L	2.84,T	6.8489	1.044	0.940	4.848720,24.8	2.41	AC=1;AN=2;BQB=0.36414;DP4=26,13,18,14;DP=99;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.870892;SF=20;SGB=-0.69312;VDB=0.33241	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:71:32:255,0,255	.	.	.	.	G	A	0	1	Solute carrier family 38 (amino acid transporter), member 10	.	.	.	23506890|18418736	.	.	.	.	.	.	.	PM2
L	17	79349904	rs4622572	T	C	222	PASS	LOC100130370	uncharacterized LOC100130370	exonic	NM_001272086	.	synonymous SNV	LOC100130370:NM_001272086:exon4:c.A333G:p.E111E	.	.	17q25.3	.	.	.	.	Score=962;Name="1965091:MLT2D(LTR)"	rs4622572	.	.	0.0265781	0.0357	0.0129792	.	.	.	.	0.0228365639423	.	.	.	.	.	.	.	.	0.559	-0.122	.	.	AC=1;AN=2;BQB=0.872227;DP4=18,1,19,3;DP=61;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.991492;SF=20;SGB=-0.692562;VDB=0.967063	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:22:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	79648909	rs576807310	G	A	222	PASS	ARL16	ADP-ribosylation factor-like 16	exonic	NM_001040025	.	synonymous SNV	ARL16:NM_001040025:exon5:c.C423T:p.I141I	ENST00000397498.4,ENST00000570561.1,ENST00000576135.1,ENST00000574938.1,ENST00000573392.1	.	17q25.3	.	.	.	Score=0.920331;Name=chr1:26545071	.	rs576807310	.	.	0	0.002	0.000399361	.	5.816e-05	0.0008	.	.	.	.	.	.	.	.	.	.	-3.161	-1.608	.	.	AC=1;AN=2;BQB=0.977648;DP4=11,2,13,8;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994364;SF=20;SGB=-0.692352;VDB=0.199618	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:34:21:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	80039964	.	A	G	222	PASS	FASN	fatty acid synthase	exonic	NM_004104	.	synonymous SNV	FASN:NM_004104:exon36:c.T6084C:p.N2028N	ENST00000306749.2,ENST00000579758.1	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.943	-0.387	.	.	AC=1;AN=2;BQB=0.998335;DP4=27,7,28,4;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.8907;SF=20;SGB=-0.69312;VDB=0.527131	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:32:255,0,255	.	.	.	.	A	G	0	1	Fatty acid synthase	.	.	.	23201681|23040493|20855599|18772430|15235125|12766036|12738878|11018265|10875926|9890958|7835891|7567999|2669958	.	.	.	KEGG_INSULIN_SIGNALING_PATHWAY	PID_P73PATHWAY;PID_DELTANP63PATHWAY	BIOCARTA_CHREBP2_PATHWAY	REACTOME_VITAMIN_B5_PANTOTHENATE_METABOLISM;REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS;REACTOME_TRIGLYCERIDE_BIOSYNTHESIS;REACTOME_FATTY_ACYL_COA_BIOSYNTHESIS;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	PM2
H	17	80393578	.	G	A	222	PASS	HEXDC	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	exonic	NM_173620	.	missense SNV	HEXDC:NM_173620:exon6:c.G461A:p.G154E	ENST00000327949.9,ENST00000337014.6,ENST00000577944.1	CpG: 24	17q25.3	.	.	Score=947;Name=V$MZF1_02	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002,D	0.998,D	1.0,D	1,D	0.000000,D	3.275,M	-2.74,D	18.8685	2.684	8.411	5.081924,25.3	5.72	AC=1;AN=2;BQB=0.00743611;DP4=28,2,25,4;DP=89;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.732857;SF=20;SGB=-0.693079;VDB=0.94929	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:29:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2,PP3
H	17	80887287	rs181489692	C	T	222	PASS	TBCD	tubulin folding cofactor D	exonic	NM_005993	.	missense SNV	TBCD:NM_005993:exon32:c.C2902T:p.R968C	ENST00000355528.4,ENST00000539345.2	CpG: 37	17q25.3	.	.	Score=890;Name=V$IK1_01	.	.	rs181489692	.	.	0.0182724	0.0109	0.00219649	.	0.0017	0.0219	0.014548207657	0.0180288266827	0.172,T	0.063,B	0.473,P	0.999997,N	0.098582,N	1.83,L	1.43,T	8.0499	2.313	1.116	3.090240,22.5	3.93	AC=2;AN=4;BQB=0.986591;DP4=65,50,76,50;DP=329;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.643795;SF=1,20;SGB=-0.693147;VDB=0.0470097	GT:DP:DV:PL	.	0/1:106:54:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:135:72:255,0,255	.	.	.	.	C	T	0	2	Tubulin-specific chaperone D	.	.	.	20740604|15303240|10722852|10231032	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CHAPERONE_BINDING	.	.	.	REACTOME_PROTEIN_FOLDING;REACTOME_POST_CHAPERONIN_TUBULIN_FOLDING_PATHWAY;REACTOME_METABOLISM_OF_PROTEINS	
H	18	11885781	rs201590510	C	A	222	PASS	MPPE1	metallophosphoesterase 1	exonic	NM_001242904,NM_023075	.	missense SNV	MPPE1:NM_001242904:exon7:c.G713T:p.S238I,MPPE1:NM_023075:exon10:c.G902T:p.S301I	ENST00000344987.7,ENST00000588072.1,ENST00000399978.2,ENST00000317235.7,ENST00000309976.9	.	18p11.21	.	.	Score=929;Name=V$NFY_Q6	.	.	rs201590510	.	.	0.00498339	0.003	0.000599042	.	0.0001	0.0015	0.00498339	0.00498339	0.002,D	0.999,D	1.0,D	1,D	0.000000,D	3.435,M	2.28,T	19.4582	2.607	7.273	6.930996,33	5.53	AC=2;AN=4;BQB=0.460512;DP4=49,18,48,24;DP=186;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.823778;SF=17,20;SGB=-0.693144;VDB=0.771314	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:65:39:255,0,255	.	.	0/1:74:33:255,0,255	.	.	.	.	C	A	0	2	Metallophosphoesterase 1	.	.	.	11978971	.	.	.	.	.	.	.	PP3
L	18	14543039	rs45570841	T	C	56.75	PASS	POTEC	POTE ankyrin domain family, member C	exonic	NM_001137671	.	missense SNV	POTEC:NM_001137671:exon1:c.A107G:p.K36R	ENST00000358970.5,ENST00000389891.4	.	18p11.21	.	.	.	Score=0.979092;Name=chr21:14801587	.	rs45570841	.	.	.	.	.	.	0.0055	0.0059	0.0198864	0.0130435	1.0,T	0.0,B	0.0,B	1,N	.	-1.7,N	1.88,T	.	-1.423	-1.578	.	.	AC=13;AN=26;BQB=0.0750345;DP4=658,356,17,341;DP=1997;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=6.49887e-07;MQSB=4.56317e-05;RPB=0.000409176;SF=0,4,6,8,9,10,11,14,16,19,20,21,24;SGB=-0.692067;VDB=6.86925e-06	GT:DP:DV:PL	0/1:90:20:57,0,255	.	.	.	0/1:90:23:75,0,255	.	0/1:91:20:61,0,255	.	0/1:103:27:83,0,255	0/1:80:19:102,0,255	0/1:112:30:79,0,255	0/1:99:25:108,0,255	.	.	0/1:96:28:128,0,255	.	0/1:107:22:75,0,255	.	.	0/1:98:23:98,0,255	0/1:104:32:124,0,255	0/1:192:64:122,0,255	.	.	0/1:110:25:81,0,255	T	C	0	13	.	.	.	.		.	.	.	.	.	.	.	
L	18	20573422	rs371151302	G	A	228	PASS	RBBP8	retinoblastoma binding protein 8	exonic	NM_002894,NM_203291,NM_203292	.	synonymous SNV	RBBP8:NM_002894:exon11:c.G1632A:p.T544T,RBBP8:NM_203291:exon11:c.G1632A:p.T544T,RBBP8:NM_203292:exon11:c.G1632A:p.T544T	ENST00000360790.5,ENST00000399725.2,ENST00000399722.2,ENST00000327155.5	.	18q11.2	.	.	.	.	.	rs371151302	.	.	.	.	.	.	7.471e-05	0.0008	0.00142045	.	.	.	.	.	.	.	.	.	0.106	-0.120	.	.	AC=2;AN=2;DP4=0,0,19,11;DP=40;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693097;VDB=0.213533	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:30:30:255,90,0	.	.	.	.	G	A	1	0	Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3); Jawad syndrome, 251255 (3)	.	.	.	24389050|21998596|21368826|21160476|20829486|19357644|19270026|18806779|18071751|17965729|12414815|11781686|11751867|10910365|10764811|9811458|9738006|9721205|9535825	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;CELL_CYCLE_CHECKPOINT_GO_0000075;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;RESPONSE_TO_DNA_DAMAGE_STIMULUS;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE	NUCLEUS	.	.	PID_NOTCH_PATHWAY;PID_E2F_PATHWAY;PID_ATM_PATHWAY;PID_BARD1PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_ATM_PATHWAY	REACTOME_MEIOSIS;REACTOME_MEIOTIC_RECOMBINATION	
L	18	20716021	rs201595073	G	T	57	PASS	CABLES1	Cdk5 and Abl enzyme substrate 1	exonic	NM_001100619	.	missense SNV	CABLES1:NM_001100619:exon1:c.G295T:p.G99C	ENST00000400473.2,ENST00000256925.7	CpG: 215	18q11.2	.	.	.	.	Score=22;Name="2003707:GC_rich(Low_complexity)"	rs201595073	.	.	.	.	.	.	0	0	.	.	0.002,D	0.989,D	1.0,D	1,D	0.716659,N	0.55,N	0.7,T	7.604	0.704	4.717	6.011225,27.9	.	AC=2;AN=2;DP4=0,0,3,1;DP=6;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.556411;VDB=0.00766117	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:4:4:85,12,0	.	.	.	.	G	T	1	0	.	.	.	.		.	CYTOPLASMIC_PART;CYTOPLASM;CYTOSOL	.	.	PID_AJDISS_2PATHWAY;PID_TAP63PATHWAY	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	PM2
H	18	21496646	.	T	C	228	PASS	LAMA3	laminin, alpha 3	exonic	NM_000227,NM_001127717,NM_001127718,NM_198129	.	missense SNV	LAMA3:NM_001127718:exon22:c.T2915C:p.F972S,LAMA3:NM_000227:exon23:c.T3083C:p.F1028S,LAMA3:NM_001127717:exon59:c.T7742C:p.F2581S,LAMA3:NM_198129:exon60:c.T7910C:p.F2637S	ENST00000269217.6,ENST00000588770.1,ENST00000399516.3,ENST00000587184.1,ENST00000313654.9	.	18q11.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001,D	0.999,D	1.0,D	0.999999,D	.	2.84,M	-1.15,T	16.0863	2.197	5.408	5.604468,26.5	5.76	AC=2;AN=2;DP4=0,0,9,7;DP=23;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.689466;VDB=0.0549041	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:16:16:255,48,0	.	.	.	.	T	C	1	0	Epidermolysis bullosa, junctional, Herlitz type, 226700 (3); Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3)	.	.	.	18374450|12915477|11810295|11326281|10656935|10366601|10233324|8618022|8586427|8530087|8077230|7921537|7633458	SYSTEM_DEVELOPMENT;TISSUE_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;EPIDERMIS_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT;ECTODERM_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;BASEMENT_MEMBRANE;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_FRA_PATHWAY;PID_INTEGRIN4_PATHWAY;PID_SYNDECAN_4_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY;PID_SYNDECAN_2_PATHWAY	BIOCARTA_AGR_PATHWAY	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_CELL_JUNCTION_ORGANIZATION	PM2
M	18	32826243	rs376307223	T	C	228	PASS	ZNF397	zinc finger protein 397	exonic	NM_001135178	.	missense SNV	ZNF397:NM_001135178:exon4:c.T1574C:p.M525T	ENST00000330501.7,ENST00000355632.4,ENST00000592264.1,ENST00000261333.6,ENST00000589420.1	.	18q12.2	.	.	.	.	.	rs376307223	.	.	0.00166113	0.003	0.000599042	.	0.0003	0.0097	.	0.00166113	0.433,T	0.001,B	0.0,B	1,N	0.785513,N	-1.135,N	1.3,T	3.3515	0.838	0.244	.	2.69	AC=2;AN=2;DP4=0,0,12,13;DP=39;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692914;VDB=0.121215	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:25:25:255,75,0	.	.	.	.	T	C	1	0	Zinc finger protein-397	.	.	.	12801647	.	.	.	.	.	.	.	
H	18	32919934	rs148053646	G	A	191	PASS	ZNF24	zinc finger protein 24	exonic	NM_001308123,NM_006965	.	missense SNV	ZNF24:NM_001308123:exon3:c.C427T:p.L143F,ZNF24:NM_006965:exon3:c.C427T:p.L143F	ENST00000261332.6,ENST00000589881.1,ENST00000399061.3	.	18q12.2	.	.	.	.	.	rs148053646	.	.	0.00664452	0.0089	0.00179712	.	0.0007	0.0091	0.00535987632466	0.00600961771635	0.702,T	0.76,P	0.983,D	0.534957,N	0.002575,N	-0.69,N	3.51,T	6.5137	2.771	0.958	3.489365,23.1	3.59	AC=3;AN=4;BQB=0.679965;DP4=7,3,17,19;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.84246;SF=11,20;SGB=-0.636426;VDB=0.442059	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:17:7:187,0,255	.	.	.	.	.	.	.	.	1/1:29:29:255,87,0	.	.	.	.	G	A	1	1	Zinc finger protein-24 (KOX17)	.	.	.	10585455|2004757	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	.	TRANSCRIPTION_REPRESSOR_ACTIVITY	.	.	.	.	
H	18	60645693	rs770851475	G	A	222	PASS	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	exonic	NM_194449	.	missense SNV	PHLPP1:NM_194449:exon17:c.G4183A:p.A1395T	ENST00000262719.5,ENST00000400316.4	.	18q21.33	.	.	Score=851;Name=V$HAND1E47_01	.	.	rs770851475	.	.	.	.	.	.	9.969e-06	0	.	.	0.018,D	0.986,D	1.0,D	0.999419,D	.	2.13,M	2.23,T	13.2185	0.530	3.566	2.706349,20.8	2.77	AC=1;AN=2;BQB=0.375789;DP4=21,10,12,7;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.552513;SF=20;SGB=-0.69168;VDB=0.343124	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:19:255,0,255	.	.	.	.	G	A	0	1	PH domain and leucine-rich repeat protein phosphatase	.	.	.	17553428|17386267|15808505|12594205|10570941|9628581	.	.	.	.	.	.	REACTOME_SIGNALLING_BY_NGF;REACTOME_SIGNALING_BY_SCF_KIT;REACTOME_SIGNALING_BY_ERBB4;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_PI3K_EVENTS_IN_ERBB4_SIGNALING;REACTOME_PI3K_EVENTS_IN_ERBB2_SIGNALING;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_NEGATIVE_REGULATION_OF_THE_PI3K_AKT_NETWORK;REACTOME_PI3K_AKT_ACTIVATION;REACTOME_GAB1_SIGNALOSOME;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_PI_3K_CASCADE;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PIP3_ACTIVATES_AKT_SIGNALING;REACTOME_SIGNALING_BY_FGFR	PM2
L	18	61582879	rs35980016	C	T	222	PASS	SERPINB10	serpin peptidase inhibitor, clade B (ovalbumin), member 10	exonic	NM_005024	.	synonymous SNV	SERPINB10:NM_005024:exon1:c.C135T:p.G45G	ENST00000238508.3	.	18q21.33	.	.	.	.	.	rs35980016	.	.	0.0116279	0.0208	0.0317492	0.0230	0.0103	0.0136	0.013016817611	0.0144230634615	.	.	.	1,D	.	.	.	0.9923	-0.138	-0.646	1.071425,11.06	.	AC=2;AN=4;BQB=0.811552;DP4=21,6,15,6;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.7613;SF=13,20;SGB=-0.676189;VDB=0.342372	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:11:255,0,255	.	.	.	.	.	.	0/1:25:10:255,0,255	.	.	.	.	C	T	0	2	Protease inhibitor 10, ovalbumin type (bomapin)	.	.	.	9268635|7592909|2690952	.	.	PROTEASE_INHIBITOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;SERINE_TYPE_ENDOPEPTIDASE_INHIBITOR_ACTIVITY	.	.	.	.	
H	18	65179096	rs764868955	C	T	222	PASS	DSEL	dermatan sulfate epimerase-like	exonic	NM_032160	.	missense SNV	DSEL:NM_032160:exon2:c.G2780A:p.R927H	ENST00000310045.7,ENST00000583493.1	.	18q22.1	.	.	.	.	.	rs764868955	.	.	.	.	.	.	5.769e-05	0	.	.	0.229,T	0.005,B	0.004,B	0.997228,N	0.013994,N	0.835,L	2.21,T	8.6542	1.126	1.255	3.914519,23.5	4.24	AC=1;AN=2;BQB=0.944602;DP4=15,6,15,2;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.545522;SF=20;SGB=-0.690438;VDB=0.81961	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:17:255,0,255	.	.	.	.	C	T	0	1	Dermatan sulfate epimerase-like	.	.	.	16505484|12556911	.	.	.	.	.	.	.	PM2
L	18	67562953	rs779248218	T	C	222	PASS	CD226	CD226 molecule	exonic	NM_001303618,NM_001303619,NM_006566	.	synonymous SNV	CD226:NM_001303619:exon2:c.A246G:p.R82R,CD226:NM_001303618:exon3:c.A711G:p.R237R,CD226:NM_006566:exon4:c.A711G:p.R237R	ENST00000582621.1,ENST00000280200.4,ENST00000577287.1,ENST00000581982.1	.	18q22.2	.	.	.	.	.	rs779248218	.	.	.	.	.	.	8.266e-06	0.0001	.	.	.	.	.	.	.	.	.	.	-1.504	-1.586	.	.	AC=1;AN=2;BQB=0.63268;DP4=19,6,24,8;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.913193;SF=20;SGB=-0.69312;VDB=0.189867	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:32:255,0,255	.	.	.	.	T	C	0	1	DNAX accessory molecule 1	.	.	.	22547693|19029379|15661884|15136589|12913096|10591186|8673704	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
M	19	501695	rs77685069	C	T	63.51	PASS	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	exonic	NM_130760	.	missense SNV	MADCAM1:NM_130760:exon4:c.C694T:p.P232S	ENST00000592413.1,ENST00000215637.3,ENST00000346144.4,ENST00000382683.4,ENST00000587541.1	.	19p13.3	.	.	.	.	.	rs77685069	.	.	.	.	.	.	2.629e-05	0	.	.	0.081,T	0.131,B	0.437,B	1,N	0.013211,N	0.695,N	2.72,T	5.1333	0.385	0.138	.	.	AC=11;AN=22;BQB=0.511891;DP4=125,26,57,8;DP=274;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.651439;MQSB=0.727273;RPB=0.0818411;SF=1,2,5,6,7,9,12,20,21,22,23;SGB=-0.556411;VDB=0.0107983	GT:DP:DV:PL	.	0/1:13:4:71,0,201	0/1:17:4:63,0,255	.	.	0/1:34:8:118,0,255	0/1:12:7:145,0,145	0/1:13:4:105,0,204	.	0/1:10:3:59,0,133	.	.	0/1:14:5:98,0,158	.	.	.	.	.	.	.	0/1:17:7:138,0,210	0/1:38:7:59,0,255	0/1:21:5:73,0,255	0/1:27:11:145,0,222	.	C	T	0	11	Mucosal addressin cell adhesion molecule-1	.	.	.	10790368|9162097|8609404|8502297	SIGNAL_TRANSDUCTION;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	CELL_FRACTION;MEMBRANE_FRACTION	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_INTESTINAL_IMMUNE_NETWORK_FOR_IGA_PRODUCTION	PID_INTEGRIN5_PATHWAY	.	.	PM2
H	19	681642	.	C	G	222	PASS	FSTL3	follistatin-like 3 (secreted glycoprotein)	splicing	NM_005860	NM_005860:exon5:c.734-8C>G	.	.	ENST00000592947.1,ENST00000166139.4	.	19p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.821	0.221	.	.	AC=1;AN=2;BQB=0.996533;DP4=6,24,5,17;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.913257;SF=20;SGB=-0.692562;VDB=0.606361	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:22:255,0,255	.	.	.	.	C	G	0	1	Follistatin-like 3	.	.	.	17229845|15451564|11571638|11459787|11010968|9671416|8499640	.	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	.	.	PM2
H	19	1031136	.	C	T	222	PASS	CNN2	calponin 2	exonic	NM_001303499,NM_001303501,NM_004368,NM_201277	.	missense SNV	CNN2:NM_001303499:exon2:c.C130T:p.L44F,CNN2:NM_001303501:exon2:c.C130T:p.L44F,CNN2:NM_004368:exon2:c.C130T:p.L44F,CNN2:NM_201277:exon2:c.C130T:p.L44F	ENST00000565096.2,ENST00000562958.2,ENST00000263097.4,ENST00000606983.1,ENST00000348419.3	.	19p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049,D	0.015,B	0.015,B	1,N	0.528668,U	0.875,L	0.23,T	9.6853	0.813	-0.123	.	2.79	AC=1;AN=2;BQB=0.743893;DP4=11,2,10,3;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.898967;SF=20;SGB=-0.683931;VDB=0.479998	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:13:255,0,255	.	.	.	.	C	T	0	1	Calonin 2	.	.	.	8889829|7829105	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	PM2
H	19	1051515	rs117390715	C	G	222	PASS	ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	exonic	NM_019112	.	missense SNV	ABCA7:NM_019112:exon21:c.C2892G:p.D964E	ENST00000433129.1,ENST00000435683.2,ENST00000263094.6	.	19p13.3	.	.	.	.	.	rs117390715	.	.	0.0232558	0.0179	0.00359425	.	0.0015	0.0205	0.0137825366616	0.0180288371394	0.0,D	1.0,D	1.0,D	0.899706,N	.	5,H	-6.41,D	8.1185	-0.035	-3.539	5.353353,25.9	.	AC=1;AN=2;BQB=0.806317;DP4=11,1,12,6;DP=39;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.748022;SF=20;SGB=-0.691153;VDB=0.403854	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:18:255,0,239	.	.	.	.	C	G	0	1	ATP-binding cassette, subfamily A, member 7	.	.	.	11435699|11355874|11095984|10873640	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
L	19	1056149	rs150594667	G	T	222	PASS	ABCA7	ATP-binding cassette, sub-family A (ABC1), member 7	exonic	NM_019112	.	synonymous SNV	ABCA7:NM_019112:exon32:c.G4323T:p.A1441A	ENST00000433129.1,ENST00000435683.2,ENST00000263094.6	.	19p13.3	.	.	Score=827;Name=V$HEN1_02	.	.	rs150594667	.	.	0.0232558	0.0179	0.00359425	0.0002	0.0015	0.0204	0.0137825366616	0.0180288371394	.	.	.	.	.	.	.	.	-1.178	-2.831	.	.	AC=1;AN=2;BQB=0.956665;DP4=17,10,25,9;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.437944;SF=20;SGB=-0.693132;VDB=0.766886	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:34:255,0,255	.	.	.	.	G	T	0	1	ATP-binding cassette, subfamily A, member 7	.	.	.	11435699|11355874|11095984|10873640	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	KEGG_ABC_TRANSPORTERS	.	.	REACTOME_ABCA_TRANSPORTERS_IN_LIPID_HOMEOSTASIS;REACTOME_ABC_FAMILY_PROTEINS_MEDIATED_TRANSPORT;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES	
L	19	1467667	rs116169601	G	C	180.5	PASS	APC2	adenomatosis polyposis coli 2	exonic	NM_005883	.	missense SNV	APC2:NM_005883:exon15:c.G4367C:p.R1456P	ENST00000238483.4,ENST00000588427.1,ENST00000535453.1,ENST00000233607.2	CpG: 589	19p13.3	.	.	.	.	.	rs116169601	.	.	0.0332226	0.0258	0.0479233	.	0.0300	0	0.0298621589587	0.0324519341346	0.027,D	0.527,P	0.924,P	1,D	0.169036,N	2.075,M	-2.76,D	6.437	0.617	-1.057	1.730728,14.58	2.83	AC=2;AN=4;BQB=0.743486;DP4=18,13,16,3;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.880529;SF=7,20;SGB=-0.651104;VDB=0.5	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:27:8:180,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:11:248,0,255	.	.	.	.	G	C	0	2	APC2 gene	.	.	.	10021369|9823329	MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS	EXTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_PART;MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;EXTRINSIC_TO_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_WNT_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	.	.	.	
L	19	1469469	rs189440287	G	A	96	PASS	APC2	adenomatosis polyposis coli 2	exonic	NM_005883	.	missense SNV	APC2:NM_005883:exon15:c.G6169A:p.A2057T	ENST00000238483.4,ENST00000588427.1,ENST00000535453.1,ENST00000233607.2	CpG: 589	19p13.3	.	.	.	.	Score=246;Name="2101485:C-rich(Low_complexity)"	rs189440287	.	.	0.0299003	0.0238	0.0477236	.	0.0247	.	0.0299003	0.0300480584135	0.1,T	0.052,B	0.094,B	1,P	0.594005,U	-0.345,N	-1.7,D	1.3847	-0.199	-0.014	.	.	AC=1;AN=2;BQB=0.895781;DP4=5,1,2,2;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.895781;MQSB=0.916482;RPB=0.0559863;SF=20;SGB=-0.556411;VDB=0.0437511	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:10:4:129,0,159	.	.	.	.	G	A	0	1	APC2 gene	.	.	.	10021369|9823329	MACROMOLECULAR_COMPLEX_ASSEMBLY;SIGNAL_TRANSDUCTION;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS	EXTRINSIC_TO_PLASMA_MEMBRANE;MEMBRANE_PART;MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;EXTRINSIC_TO_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_WNT_SIGNALING_PATHWAY;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_PATHWAYS_IN_CANCER;KEGG_COLORECTAL_CANCER;KEGG_ENDOMETRIAL_CANCER;KEGG_BASAL_CELL_CARCINOMA	.	.	.	
H	19	3733757	rs200312524	G	C	222	PASS	TJP3	tight junction protein 3	exonic	NM_001267560,NM_001267561	.	missense SNV	TJP3:NM_001267560:exon7:c.G724C:p.G242R,TJP3:NM_001267561:exon7:c.G751C:p.G251R	ENST00000587686.1,ENST00000589378.1,ENST00000382008.3,ENST00000262968.9,ENST00000541714.2,ENST00000539908.2	.	19p13.3	.	.	Score=888;Name=V$CDPCR3HD_01	.	.	rs200312524	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0016	0.00166113	0.00166113	0.001,D	1.0,D	1.0,D	1,D	0.000001,D	3.855,H	0.04,T	16.7584	2.430	9.145	5.737926,26.9	4.68	AC=1;AN=2;BQB=0.600193;DP4=16,5,7,5;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.988858;SF=20;SGB=-0.680642;VDB=0.480387	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:12:255,0,255	.	.	.	.	G	C	0	1	Tight junction protein 3	.	.	.	12021270|10601346|9531559	.	.	.	KEGG_TIGHT_JUNCTION	.	.	.	PP3
H	19	3751337	rs770662959	A	G	129	PASS	APBA3	amyloid beta (A4) precursor protein-binding, family A, member 3	splicing	NM_004886	NM_004886:exon10:c.1516-10T>C	.	.	ENST00000316757.3	CpG: 41	19p13.3	.	.	.	.	.	rs770662959	.	.	.	.	.	.	0.0002	0.0055	.	0.00869565	.	.	.	.	.	.	.	.	-0.647	-2.630	.	.	AC=1;AN=2;BQB=0.883327;DP4=9,2,6,1;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.526867;SF=20;SGB=-0.636426;VDB=0.610244	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:7:162,0,255	.	.	.	.	A	G	0	1	Amyloid beta A4 precursor protein-binding, family A, member 3	.	.	.	10049767	.	.	.	.	.	.	.	
M	19	4171872	rs200345987	G	T	222	PASS	CREB3L3	cAMP responsive element binding protein 3-like 3	exonic	NM_001271995,NM_001271996,NM_032607	.	missense SNV	CREB3L3:NM_001271995:exon10:c.G1289T:p.G430V,CREB3L3:NM_001271996:exon10:c.G1286T:p.G429V,CREB3L3:NM_032607:exon10:c.G1292T:p.G431V	ENST00000602257.1,ENST00000595923.1,ENST00000602147.1,ENST00000252587.3,ENST00000078445.2	.	19p13.3	.	.	.	.	.	rs200345987	.	.	0.00166113	0.001	0.000199681	.	7.153e-05	0.0009	0.001531391317	0.00166113	0.051,T	0.002,B	0.003,B	1,N	0.454677,N	0.69,N	-1.65,D	2.6751	-0.162	0.239	.	.	AC=1;AN=2;BQB=0.544434;DP4=18,22,8,28;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.563223;SF=20;SGB=-0.693139;VDB=0.0804945	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:36:255,0,255	.	.	.	.	G	T	0	1	cAMP responsive element-binding protein 3-like 3	.	.	.	16469704|11353085	.	.	.	KEGG_MELANOGENESIS;KEGG_VASOPRESSIN_REGULATED_WATER_REABSORPTION;KEGG_HUNTINGTONS_DISEASE;KEGG_PROSTATE_CANCER	.	.	.	
H	19	4511617	rs762684785	C	T	222	PASS	PLIN4	perilipin 4	exonic	NM_001080400	.	missense SNV	PLIN4:NM_001080400:exon3:c.G2313A:p.M771I	ENST00000301286.3	.	19p13.3	.	.	.	.	.	rs762684785	.	.	.	.	.	.	0.0002	0.0001	.	.	0.189,T	0.004,B	0.002,B	0.998386,N	0.548176,N	1.32,L	3.54,T	12.0362	2.117	-0.580	1.416244,12.87	4.63	AC=1;AN=2;BQB=0.132101;DP4=31,21,45,38;DP=197;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.393656;MQSB=0.832501;RPB=0.0247656;SF=20;SGB=-0.693147;VDB=0.00682441	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:135:83:255,0,255	.	.	.	.	C	T	0	1	Perilipin 4	.	.	.	12840023|11572484	.	.	.	.	.	.	.	
M	19	4511619	rs77044499	T	C	222	PASS	PLIN4	perilipin 4	exonic	NM_001080400	.	missense SNV	PLIN4:NM_001080400:exon3:c.A2311G:p.M771V	ENST00000301286.3	.	19p13.3	.	.	.	.	.	rs77044499	.	.	0	.	0.00339457	.	0.0012	0.0002	.	0.0130435	0.084,T	0.002,B	0.001,B	1,N	0.548176,N	0.515,N	3.53,T	6.8022	-3.279	-3.717	.	.	AC=1;AN=2;BQB=0.0272504;DP4=27,14,53,41;DP=188;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.98975;MQSB=0.885747;RPB=0.845693;SF=20;SGB=-0.693147;VDB=0.0119114	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:135:94:255,0,255	.	.	.	.	T	C	0	1	Perilipin 4	.	.	.	12840023|11572484	.	.	.	.	.	.	.	
M	19	5455639	rs374447341	G	A	222	PASS	ZNRF4	zinc and ring finger 4	exonic	NM_181710	.	missense SNV	ZNRF4:NM_181710:exon1:c.G137A:p.R46Q	ENST00000222033.4	CpG: 74	19p13.3	.	.	.	.	.	rs374447341	.	.	0.00166113	0.001	0.000199681	.	3.345e-05	0.0002	0.00166113	0.00166113	0.356,T	0.0,B	0.001,B	1,N	.	0.345,N	3.63,T	3.2971	0.083	-0.282	.	.	AC=1;AN=2;BQB=0.985994;DP4=21,8,28,9;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999249;SF=20;SGB=-0.693141;VDB=0.164995	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:37:255,0,255	.	.	.	.	G	A	0	1	Zinc finger and ring finger protein 4	.	.	.	10191088	.	.	.	.	.	.	.	
H	19	5867247	rs151065401	C	T	222	PASS	FUT5	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	exonic	NM_002034	.	missense SNV	FUT5:NM_002034:exon2:c.G490A:p.G164R	ENST00000252675.5,ENST00000588525.1	CpG: 52	19p13.3	.	.	.	.	.	rs151065401	.	.	0.00664452	0.005	0.000998403	0.0003	0.0005	0.0045	0.00664452	0.00664452	0.18,T	0.047,B	0.037,B	1,N	0.141401,U	2.14,M	1.83,T	4.7941	1.211	-0.032	1.519761,13.42	2.17	AC=1;AN=2;BQB=0.62285;DP4=38,20,38,9;DP=127;HOB=0.5;ICB=1;MQ0F=0;MQ=56;MQB=0.1028;MQSB=0.889572;RPB=0.0506599;SF=20;SGB=-0.693147;VDB=0.661611	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:105:47:255,0,255	.	.	.	.	C	T	0	1	Fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	.	.	.	7782074|1740457	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	TRANSFERASE_ACTIVITY_TRANSFERRING_HEXOSYL_GROUPS;FUCOSYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GLYCOSYL_GROUPS	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_LACTO_AND_NEOLACTO_SERIES	.	.	.	
H	19	5914650	rs199930097	G	A	222	PASS	CAPS	calcyphosine	exonic	NM_004058,NM_080590	.	missense SNV	CAPS:NM_004058:exon3:c.G418A:p.G140R,CAPS:NM_080590:exon3:c.G418A:p.G140R	ENST00000222125.5,ENST00000588891.1,ENST00000588776.1,ENST00000452990.2	.	19p13.3	.	.	.	.	.	rs199930097	.	.	0	0.001	0.00419329	.	0.0035	0.0016	.	.	0.021,D	0.999,D	1.0,D	0.99981,D	0.000000,D	3.195,M	-0.71,T	15.7965	2.315	4.599	5.690652,26.8	4.98	AC=1;AN=2;BQB=0.563902;DP4=33,28,26,16;DP=141;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999319;SF=20;SGB=-0.693146;VDB=0.00363103	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:103:42:255,0,255	.	.	.	.	G	A	0	1	Calcyphosine	.	.	.	9224948|2540953|2265558	SIGNAL_TRANSDUCTION;INTRACELLULAR_SIGNALING_CASCADE	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	PP3
L	19	7982638	rs374527539	G	A	135.33	PASS	TGFBR3L	transforming growth factor, beta receptor III-like	exonic	NM_001195259	.	synonymous SNV	TGFBR3L:NM_001195259:exon4:c.G777A:p.P259P	ENST00000565886.1,ENST00000564348.1	CpG: 167	19p13.2	.	.	.	.	Score=22;Name="2118669:GC_rich(Low_complexity)"	rs374527539	.	.	0.00664452	0.006	0.00119808	.	0.0013	0.0417	0.00568182	0.00600961771635	.	.	.	.	.	.	.	.	-1.052	-1.677	1.459352,13.10	.	AC=3;AN=6;BQB=1;DP4=4,19,6,12;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1;SF=9,20,21;SGB=-0.556411;VDB=0.820274	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:5:4:129,0,22	.	.	.	.	.	.	.	.	.	.	0/1:11:7:220,0,127	0/1:25:7:159,0,255	.	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	19	8931929	rs373869285	C	T	222	PASS	ZNF558	zinc finger protein 558	exonic	NM_144693	.	synonymous SNV	ZNF558:NM_144693:exon7:c.G174A:p.A58A	ENST00000301475.1,ENST00000601372.1,ENST00000444186.2	.	19p13.2	.	.	.	.	.	rs373869285	.	.	.	.	.	0.0002	7.415e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-2.881	-2.194	2.080508,16.73	.	AC=1;AN=2;BQB=0.989768;DP4=40,26,42,17;DP=177;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.52072;MQSB=0.903889;RPB=0.207697;SF=20;SGB=-0.693147;VDB=0.00954301	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:125:59:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	19	8993009	.	C	G	222	PASS	MUC16	mucin 16, cell surface associated	exonic	NM_024690	.	missense SNV	MUC16:NM_024690:exon67:c.G41750C:p.S13917T	ENST00000397910.4,ENST00000380951.5	.	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606,T	0.931,D	0.644,P	1,N	.	2.52,M	1.21,T	1.6165	-0.380	-1.192	1.802012,15.00	.	AC=1;AN=2;BQB=0.737299;DP4=14,1,9,3;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992587;SF=20;SGB=-0.680642;VDB=0.0458681	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:12:255,0,255	.	.	.	.	C	G	0	1	Mucin 16	.	.	.	12766047|11369781	.	MEMBRANE_PART;MEMBRANE;EXTRINSIC_TO_MEMBRANE	.	.	.	.	REACTOME_O_LINKED_GLYCOSYLATION_OF_MUCINS;REACTOME_TERMINATION_OF_O_GLYCAN_BIOSYNTHESIS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	PM2
L	19	9453522	rs80240525	T	C	197	PASS	ZNF559	zinc finger protein 559	exonic	NM_001202406,NM_001202407,NM_032497	.	synonymous SNV	ZNF559:NM_001202406:exon6:c.T1587C:p.Y529Y,ZNF559:NM_001202407:exon6:c.T1269C:p.Y423Y,ZNF559:NM_032497:exon7:c.T1395C:p.Y465Y	ENST00000446085.4,ENST00000538743.1,ENST00000541595.2,ENST00000393883.2,ENST00000317221.7,ENST00000605471.1,ENST00000602738.1,ENST00000586255.1,ENST00000587557.1,ENST00000603380.1,ENST00000602856.1	.	19p13.2	.	.	.	.	.	rs80240525	.	.	0.0182724	0.0248	0.00499201	.	0.0017	0.0234	0.0160795963247	0.0168269108173	.	.	.	.	.	.	.	.	0.306	-0.101	.	.	AC=1;AN=2;BQB=0.580552;DP4=9,4,10,1;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.350305;SF=20;SGB=-0.676189;VDB=0.8548	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:11:230,0,254	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	10207084	rs369675860	C	T	145.5	PASS	ANGPTL6	angiopoietin-like 6	exonic	NM_031917	.	synonymous SNV	ANGPTL6:NM_031917:exon2:c.G156A:p.A52A	ENST00000253109.4,ENST00000592641.1,ENST00000589181.1	CpG: 96	19p13.2	.	.	.	.	.	rs369675860	.	.	0.013289	0.0099	0.00199681	.	.	.	0.00765695148545	0.013289	.	.	.	.	.	.	.	.	-0.427	-0.614	1.668447,14.23	.	AC=2;AN=4;BQB=0.868815;DP4=29,3,23,1;DP=68;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.957526;SF=20,21;SGB=-0.616816;VDB=0.323459	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:15:6:153,0,203	0/1:41:18:204,0,255	.	.	.	C	T	0	2	Angiopoietin-like 6	.	.	.	22660330|19075393|15778720|14764539|12871997	.	.	.	.	.	.	.	
M	19	10291133	rs762241565	G	C	222	PASS	DNMT1	DNA (cytosine-5-)-methyltransferase 1	exonic	NM_001130823,NM_001379	.	missense SNV	DNMT1:NM_001130823:exon4:c.C338G:p.A113G,DNMT1:NM_001379:exon4:c.C338G:p.A113G	ENST00000340748.4,ENST00000359526.4,ENST00000540357.1	.	19p13.2	.	.	.	.	.	rs762241565	.	.	.	.	.	.	8.237e-06	0.0001	.	.	0.364,T	0.033,B	0.073,B	1,N	0.686114,N	0.695,N	1.55,T	1.7726	-0.147	0.929	.	.	AC=1;AN=2;BQB=0.758588;DP4=13,7,24,10;DP=84;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.852839;SF=20;SGB=-0.693132;VDB=0.278671	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:34:255,0,255	.	.	.	.	G	C	0	1	Neuropathy, hereditary sensory, type IE, 614116 (3); Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)	.	.	.	24107992|24013172|23365052|22328086|22323818|21532572|21163962|20081831|19433415|19246518|19098913|18194272|17994007|17960246|17673620|17470536|17359920|17322882|17312023|16998846|16357870|15870198|15684088|15657147|15311210|15215866|14978102|14749379|14684836|14615517|12915469|12702876|12496760|12473678|12145218|11940649|11932749|11884600|11728338|11290321|11074872|11005794|10888886|10888872|10801130|10753866|10721735|10615135|10545955|10449766|10433969|10325416|9449671|9333948|9302295|8940105|8917520|8747854|7898717|3210246|2014266|1968655|1606615|1594447|1559980	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ONE_CARBON_COMPOUND_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_GENE_EXPRESSION_EPIGENETIC;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;DNA_MODIFICATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	NUCLEUS	S_ADENOSYLMETHIONINE_DEPENDENT_METHYLTRANSFERASE_ACTIVITY;METHYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS	KEGG_CYSTEINE_AND_METHIONINE_METABOLISM	PID_RB_1PATHWAY	.	.	
L	19	10407286	rs188344435	G	T	222	PASS	ICAM5	intercellular adhesion molecule 5, telencephalin	exonic	NM_003259	.	synonymous SNV	ICAM5:NM_003259:exon11:c.G2769T:p.S923S	ENST00000221980.4	CpG: 31	19p13.2	.	.	.	.	.	rs188344435	.	.	0.0116279	0.0089	0.00179712	.	.	.	0.00765696266462	0.00961538064904	.	.	.	.	.	.	.	.	-2.439	-2.844	.	.	AC=1;AN=2;BQB=0.908551;DP4=6,5,5,9;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981811;SF=20;SGB=-0.686358;VDB=0.715481	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:14:255,0,255	.	.	.	.	G	T	0	1	Intercellular adhesion molecule 5 (telencephalin)	.	.	.	15452145|11839847|11719200|9717930|8995416|7794412|7724062	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
L	19	10671890	rs12609350	G	A	222	PASS	KRI1	KRI1 homolog	exonic	NM_023008	.	synonymous SNV	KRI1:NM_023008:exon7:c.C558T:p.G186G	ENST00000312962.6,ENST00000361821.5,ENST00000537964.1	.	19p13.2	.	.	.	.	.	rs12609350	.	.	0.0564784	0.0575	0.0115815	7.7e-05	0.0030	0.0408	0.0367534627871	0.0444711560096	.	.	.	0.998807,N	.	.	.	8.6552	-0.644	-1.713	1.148552,11.48	.	AC=1;AN=2;BQB=0.540294;DP4=12,9,11,20;DP=72;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.959082;SF=20;SGB=-0.69311;VDB=0.0622706	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:31:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	11040263	rs117203028	C	T	222	PASS	C19orf52	chromosome 19 open reading frame 52	exonic	NM_138358	.	missense SNV	C19orf52:NM_138358:exon2:c.C668T:p.T223I	ENST00000270502.6	CpG: 140	19p13.2	.	.	.	.	.	rs117203028	.	.	0.013289	0.0089	0.00179712	.	0.0006	0.0067	0.00995403987749	0.0108172823317	0.021,D	0.468,P	0.92,P	0.951083,N	0.018047,N	2.19,M	.	12.3943	2.687	1.051	2.948686,22.1	4.87	AC=2;AN=4;BQB=0.412795;DP4=65,42,48,48;DP=268;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.956695;SF=6,20;SGB=-0.693147;VDB=0.0491813	GT:DP:DV:PL	.	.	.	.	.	.	0/1:99:51:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:104:45:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	19	11606897	rs767214993	G	A	222	PASS	ZNF653	zinc finger protein 653	exonic	NM_138783	.	synonymous SNV	ZNF653:NM_138783:exon3:c.C427T:p.L143L	ENST00000585656.1,ENST00000293771.5,ENST00000593191.1	.	19p13.2	.	.	Score=881;Name=V$AREB6_03	.	.	rs767214993	.	.	.	.	.	.	8.279e-06	0.0001	.	.	.	.	.	.	.	.	.	.	2.360	5.115	.	4.52	AC=1;AN=2;BQB=0.954955;DP4=29,8,18,11;DP=98;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.791015;SF=20;SGB=-0.693079;VDB=0.0313129	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:29:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	19	12812205	.	G	A	222	PASS	TNPO2	transportin 2	exonic	NM_001136195,NM_001136196,NM_013433	.	synonymous SNV	TNPO2:NM_001136196:exon24:c.C2649T:p.F883F,TNPO2:NM_013433:exon24:c.C2619T:p.F873F,TNPO2:NM_001136195:exon25:c.C2619T:p.F873F	ENST00000441499.1,ENST00000592287.1,ENST00000450764.2,ENST00000425528.1,ENST00000356861.5,ENST00000588216.1	.	19p13.2	.	.	Score=875;Name=V$SPZ1_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.137	1.345	.	4.03	AC=1;AN=2;BQB=0.936917;DP4=37,22,32,17;DP=140;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.992413;SF=20;SGB=-0.693147;VDB=0.695543	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:108:49:255,0,255	.	.	.	.	G	A	0	1	Transportin 2	.	.	.	12384575|9298975	.	CYTOPLASM;NUCLEUS	PEPTIDE_BINDING;SIGNAL_SEQUENCE_BINDING	.	.	.	.	PM2
L	19	13318217	rs16059	G	A	222	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	synonymous SNV	CACNA1A:NM_001127222:exon47:c.C7431T:p.Y2477Y	ENST00000573710.2,ENST00000360228.5	CpG: 93	19p13.2	.	.	.	.	.	rs16059	.	.	0.00332226	0.005	0.0081869	.	0.0160	0.0470	0.00689127047473	0.00600962201923	.	.	.	.	.	.	.	.	1.179	2.575	.	.	AC=1;AN=2;BQB=0.0484762;DP4=28,17,17,13;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999635;SF=20;SGB=-0.693097;VDB=0.188762	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:75:30:255,0,255	.	.	.	.	G	A	0	1	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	
L	19	13446718	rs772301380	G	A	222	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_000068,NM_001127221,NM_001127222,NM_001174080,NM_023035	.	synonymous SNV	CACNA1A:NM_001127221:exon7:c.C984T:p.N328N,CACNA1A:NM_001127222:exon7:c.C984T:p.N328N	ENST00000573710.2,ENST00000360228.5	.	19p13.2	.	.	Score=906;Name=V$CDPCR3HD_01	.	.	rs772301380	.	.	.	.	.	.	1.57e-05	0.0002	.	.	.	.	.	.	.	.	.	.	0.658	0.916	1.171388,11.60	.	AC=1;AN=2;BQB=0.893648;DP4=8,8,15,14;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.963506;SF=20;SGB=-0.693079;VDB=0.027894	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:29:255,0,255	.	.	.	.	G	A	0	1	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	
H	19	14165207	rs375597244	C	G	222	PASS	PALM3	paralemmin 3	exonic	NM_001145028	.	missense SNV	PALM3:NM_001145028:exon6:c.G1232C:p.G411A	ENST00000340790.4	.	19p13.12	.	.	.	.	.	rs375597244	.	.	0.00166113	0.001	0.000199681	0.0002	.	.	.	0.00166113	0.011,D	0.197,B	0.264,B	1,N	.	1.955,M	0.34,T	6.7408	-0.051	0.123	.	.	AC=1;AN=2;BQB=0.904205;DP4=32,20,32,23;DP=144;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.858867;SF=20;SGB=-0.693147;VDB=0.0889413	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:107:55:255,0,255	.	.	.	.	C	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	14199774	rs764383724	C	T	222	PASS	SAMD1	sterile alpha motif domain containing 1	exonic	NM_138352	.	missense SNV	SAMD1:NM_138352:exon3:c.G946A:p.G316R	ENST00000533683.2	.	19p13.12	.	.	.	.	.	rs764383724	.	.	.	.	.	.	4.935e-05	0.0004	.	.	0.006,D	0.386,B	0.832,P	0.799585,N	0.049470,N	0.345,N	0.84,T	12.7351	2.138	1.613	4.521925,24.3	4.36	AC=1;AN=2;BQB=0.866731;DP4=58,33,49,41;DP=232;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.868043;SF=20;SGB=-0.693147;VDB=0.129882	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:181:90:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	14862332	rs374518362	A	T	222	PASS	ADGRE2	adhesion G protein-coupled receptor E2	exonic	NM_001271052,NM_013447	.	missense SNV	ADGRE2:NM_001271052:exon14:c.T1766A:p.M589K,ADGRE2:NM_013447:exon16:c.T1940A:p.M647K	ENST00000594294.1,ENST00000595839.1,ENST00000392964.3,ENST00000353876.1,ENST00000315576.3,ENST00000601345.1,ENST00000596991.2,ENST00000392965.3,ENST00000392967.2,ENST00000353005.1,ENST00000346057.1,ENST00000594076.1	.	19p13.12	.	.	.	.	.	rs374518362	.	.	0.00664452	0.0119	0.00439297	.	0.0007	0.0021	0.00664452	0.00664452	0.001,D	0.987,D	0.998,D	1,N	.	3.26,M	0.95,T	6.0818	0.686	2.277	3.473828,23.0	3.46	AC=1;AN=2;BQB=0.982568;DP4=27,4,25,5;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.505238;SF=20;SGB=-0.693097;VDB=0.178986	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:30:255,0,255	.	.	.	.	A	T	0	1	EGF-like module-containing, mucin-like hormone receptor 2	.	.	.	10903844	.	.	.	.	.	.	.	
H	19	15756539	rs138709476	C	T	222	PASS	CYP4F3	cytochrome P450, family 4, subfamily F, polypeptide 3	exonic	NM_000896	.	missense SNV	CYP4F3:NM_000896:exon3:c.C209T:p.S70L	ENST00000586182.2,ENST00000585846.1,ENST00000591058.1,ENST00000221307.8	.	19p13.12	.	.	.	.	.	rs138709476	.	.	0.0149502	0.0149	0.00339457	0.0002	0.0013	0.0130	0.0149502	0.0156250233173	0.027,D	0.041,B	0.03,B	1,N	0.001348,U	1.57,L	-2.35,D	3.2215	-0.075	1.514	1.401248,12.79	.	AC=1;AN=2;BQB=0.744193;DP4=21,1,13,3;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.978812;SF=20;SGB=-0.689466;VDB=0.381616	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:16:255,0,255	.	.	.	.	C	T	0	1	Cytochrome P450, subfamily IVF, polypeptide 3	.	.	.	9539102|8486631	CARBOXYLIC_ACID_METABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;ICOSANOID_METABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS	.	OXIDOREDUCTASE_ACTIVITY;MONOOXYGENASE_ACTIVITY	KEGG_ARACHIDONIC_ACID_METABOLISM	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	
H	19	15807714	rs537944013	G	A	178	PASS	CYP4F12	cytochrome P450, family 4, subfamily F, polypeptide 12	splicing	NM_023944	NM_023944:exon13:c.1398-4G>A	.	.	ENST00000324632.10,ENST00000550308.1	.	19p13.12	.	.	.	.	.	rs537944013	.	.	0.00166113	0.001	0.000199681	.	0.0002	0.0017	0.00166113	0.00240384754808	.	.	.	.	.	.	.	.	-0.587	-0.282	.	.	AC=1;AN=2;BQB=0.994377;DP4=7,1,19,0;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.923763;SF=20;SGB=-0.69168;VDB=0.837388	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:19:212,0,155	.	.	.	.	G	A	0	1	Cytochrome P450, family 4, subfamily F, polypeptide 12	.	.	.	16112640|15548388|11162645|11162607	.	.	.	.	.	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_CYTOCHROME_P450_ARRANGED_BY_SUBSTRATE_TYPE;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS	
M	19	17007071	rs371186391	G	C	222	PASS	CPAMD8	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	exonic	NM_015692	.	missense SNV	CPAMD8:NM_015692:exon41:c.C5483G:p.P1828R	ENST00000597335.1,ENST00000443236.1	.	19p13.11	.	.	.	.	.	rs371186391	.	.	0.013289	0.0079	0.00159744	.	0.0005	0.0071	0.0084226458193	0.0108172823317	0.112,T	0.0,B	0.0,B	1,N	0.808275,U	0,N	.	4.2571	-0.758	-0.328	.	.	AC=1;AN=2;BQB=0.941898;DP4=20,7,20,7;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.955206;SF=20;SGB=-0.693021;VDB=0.334254	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:27:255,0,255	.	.	.	.	G	C	0	1	Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8	.	.	.	15177561|10574462	.	.	.	.	.	.	.	
L	19	17007363	rs10418195	C	T	222	PASS	CPAMD8	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	exonic	NM_015692	.	missense SNV	CPAMD8:NM_015692:exon40:c.G5320A:p.D1774N	ENST00000597335.1,ENST00000443236.1	CpG: 129	19p13.11	.	.	.	.	.	rs10418195	.	.	0.0531561	0.0496	0.0469249	.	0.0152	0.0481	0.0336906617152	0.0444711120192	0.275,T	0.047,B	0.287,B	0.910253,N	0.000084,N	2.13,M	.	6.6838	0.138	1.617	2.582495,19.99	.	AC=1;AN=2;BQB=0.846482;DP4=4,8,6,6;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.738045;SF=20;SGB=-0.680642;VDB=0.250675	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:255,0,255	.	.	.	.	C	T	0	1	Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8	.	.	.	15177561|10574462	.	.	.	.	.	.	.	
L	19	17039964	rs376136046	G	T	222	PASS	CPAMD8	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	exonic	NM_015692	.	synonymous SNV	CPAMD8:NM_015692:exon24:c.C3073A:p.R1025R	ENST00000443236.1	.	19p13.11	.	.	.	.	.	rs376136046	.	.	0.00830565	0.0079	0.00159744	.	0.0001	0.0016	0.00459417924962	0.00721154110577	.	.	.	1,D	.	.	.	5.9369	0.012	3.321	.	.	AC=1;AN=2;BQB=0.999583;DP4=5,7,7,5;DP=34;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999583;SF=20;SGB=-0.680642;VDB=0.269244	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:255,0,255	.	.	.	.	G	T	0	1	Complement component 3- and pregnancy zone protein-like alpha-2-macroglobin domain-containing protein 8	.	.	.	15177561|10574462	.	.	.	.	.	.	.	
L	19	17160720	rs61735360	G	A	222	PASS	HAUS8	HAUS augmin-like complex, subunit 8	exonic	NM_001011699,NM_033417	.	missense SNV	HAUS8:NM_001011699:exon11:c.C1193T:p.P398L,HAUS8:NM_033417:exon11:c.C1196T:p.P399L	ENST00000593360.1,ENST00000448593.2,ENST00000253669.5	.	19p13.11	.	.	.	.	.	rs61735360	.	.	0.0747508	0.0615	0.0397364	0.0211	0.0328	0.0471	0.044410394487	0.0685095896635	0.056,T	0.0,B	0.002,B	1,N	.	0,N	0.68,T	4.5144	0.032	0.221	.	.	AC=2;AN=4;BQB=0.842568;DP4=28,8,27,7;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.708151;SF=20,21;SGB=-0.688148;VDB=0.663763	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:15:255,0,255	0/1:38:19:255,0,255	.	.	.	G	A	0	2	HAUS augmin-like complex, subunit 8	.	.	.	19776357|19427217|19369198|18443220|18362163	.	.	.	.	.	.	.	
H	19	17838651	rs770958379	C	T	222	PASS	MAP1S	microtubule-associated protein 1S	exonic	NM_001308363,NM_018174	.	missense SNV	MAP1S:NM_001308363:exon5:c.C2380T:p.R794C,MAP1S:NM_018174:exon5:c.C2458T:p.R820C	ENST00000324096.4,ENST00000544059.2,ENST00000595363.1,ENST00000597681.1	CpG: 165	19p13.11	.	.	.	.	.	rs770958379	.	.	.	.	.	.	8.659e-06	0	.	.	0.003,D	0.003,B	0.061,B	1,N	0.860412,N	2.57,M	2.17,T	6.3533	0.598	0.224	4.867063,24.9	.	AC=1;AN=2;BQB=0.873527;DP4=22,18,14,10;DP=86;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999904;SF=20;SGB=-0.692831;VDB=0.392992	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:64:24:255,0,255	.	.	.	.	C	T	0	1	Microtubule-associated protein 1S	.	.	.	23300923|11827465	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;NEURITE_DEVELOPMENT;INTRACELLULAR_TRANSPORT;PROGRAMMED_CELL_DEATH;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MICROTUBULE_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;CELLULAR_LOCALIZATION;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_MOVEMENT;ORGAN_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT;APOPTOSIS_GO	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;NUCLEUS;CYTOSOL;CYTOSKELETON;PERINUCLEAR_REGION_OF_CYTOPLASM;MICROTUBULE;CELL_SOMA;DENDRITE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	MICROTUBULE_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;BETA_TUBULIN_BINDING;DEOXYRIBONUCLEASE_ACTIVITY;ACTIN_BINDING;TUBULIN_BINDING;ACTIN_FILAMENT_BINDING;CYTOSKELETAL_PROTEIN_BINDING;NUCLEASE_ACTIVITY;DNA_BINDING	.	.	.	.	PM2
M	19	18171942	rs370238890	C	T	222	PASS	IL12RB1	interleukin 12 receptor, beta 1	exonic	NM_001290023,NM_001290024,NM_005535	.	missense SNV	IL12RB1:NM_001290023:exon15:c.G1781A:p.G594E,IL12RB1:NM_005535:exon15:c.G1781A:p.G594E,IL12RB1:NM_001290024:exon16:c.G1901A:p.G634E	ENST00000600835.2,ENST00000593993.2	.	19p13.11	.	.	.	.	.	rs370238890	.	.	0.00664452	0.0119	0.00239617	.	0.0014	0.0197	0.00689127038285	0.00841346879808	0.522,T	0.006,B	0.003,B	1,N	0.680729,N	1.15,L	-1.39,T	4.8308	-0.423	-0.222	.	.	AC=1;AN=2;BQB=0.983421;DP4=12,8,11,6;DP=52;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.712807;SF=20;SGB=-0.690438;VDB=0.363883	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	.	C	T	0	1	Immunodeficiency 30, 614891 (3)	.	.	.	23864330|21487897|20212068|18591412|16293671|16159888|15736007|15178580|12830418|12596048|12594833|12591909|11424023|11106721|9603733|9603732|9284929|8943050|7911493	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_PROLIFERATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	INTERLEUKIN_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY;INTERLEUKIN_RECEPTOR_ACTIVITY;CYTOKINE_BINDING	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	PID_IL27PATHWAY;PID_IL12_2PATHWAY;PID_IL23PATHWAY	BIOCARTA_IL12_PATHWAY;BIOCARTA_NO2IL12_PATHWAY;BIOCARTA_NKT_PATHWAY;BIOCARTA_TH1TH2_PATHWAY	.	
L	19	18965450	rs201936003	G	T	201.5	PASS	UPF1	UPF1 regulator of nonsense transcripts homolog (yeast)	exonic	NM_001297549,NM_002911	.	synonymous SNV	UPF1:NM_001297549:exon9:c.G1230T:p.V410V,UPF1:NM_002911:exon9:c.G1197T:p.V399V	ENST00000599848.1,ENST00000262803.5	.	19p13.11	.	.	.	.	.	rs201936003	.	.	0.0199336	0.0119	0.00299521	.	0.0004	0.0054	0.0122511703522	0.0199336	.	.	.	.	.	.	.	.	1.097	1.351	0.982368,10.56	.	AC=2;AN=4;BQB=0.965264;DP4=11,8,14,11;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.315246;SF=4,20;SGB=-0.662043;VDB=0.33691	GT:DP:DV:PL	.	.	.	.	0/1:20:9:214,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:16:255,0,223	.	.	.	.	G	T	0	2	Upf1, yeast, homolog of	.	.	.	24859531|21145460|18362360|15680326|15525991|14636577|12228722|11152657|9707591|9064659|8855285	DNA_METABOLIC_PROCESS;RNA_METABOLIC_PROCESS;DNA_REPAIR;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_TRANSPORT;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;CELLULAR_COMPONENT_DISASSEMBLY;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;REGULATION_OF_TRANSLATION;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_COMPLEX_DISASSEMBLY;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;PROTEIN_COMPLEX_DISASSEMBLY;RNA_PROCESSING;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;RNA_EXPORT_FROM_NUCLEUS;TRANSPORT;DNA_REPLICATION;PROTEIN_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_DISASSEMBLY;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;CELL_CYCLE_GO_0007049;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS;NUCLEOCYTOPLASMIC_TRANSPORT	ORGANELLE_PART;CHROMATIN;NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CHROMOSOMAL_PART;CHROMOSOME	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;RNA_HELICASE_ACTIVITY;ATP_DEPENDENT_HELICASE_ACTIVITY;HELICASE_ACTIVITY;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;ATP_DEPENDENT_RNA_HELICASE_ACTIVITY;ATPASE_ACTIVITY_COUPLED;RNA_DEPENDENT_ATPASE_ACTIVITY;ATPASE_ACTIVITY;CHROMATIN_BINDING;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	
H	19	20230054	rs782192463	C	T	222	PASS	ZNF90	zinc finger protein 90	exonic	NM_007138	.	missense SNV	ZNF90:NM_007138:exon4:c.C1691T:p.P564L	ENST00000418063.2,ENST00000474284.1	.	19p12	.	.	.	.	.	rs782192463	.	.	.	.	.	.	2.617e-05	0.0004	.	.	0.052,T	0.998,D	1.0,D	0.999708,D	.	1.53,L	2.3,T	7.3123	0.181	0.646	4.942248,25.0	.	AC=1;AN=2;BQB=0.941974;DP4=47,36,33,21;DP=190;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.992953;MQSB=0.98486;RPB=0.626642;SF=20;SGB=-0.693147;VDB=0.359289	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:137:54:255,0,255	.	.	.	.	C	T	0	1	Zinc finger protein-90	.	.	.	8467795|2023909	.	.	.	.	.	.	.	
L	19	20808308	rs377238647	C	T	222	PASS	ZNF626	zinc finger protein 626	exonic	NM_001076675	.	synonymous SNV	ZNF626:NM_001076675:exon4:c.G375A:p.V125V	ENST00000601440.1,ENST00000595094.1	.	19p12	.	.	.	.	.	rs377238647	.	.	0.00332226	0.003	0.000599042	.	0.0002	0.0029	0.00332226	0.00332226	.	.	.	.	.	.	.	.	0.284	-0.745	.	.	AC=1;AN=2;BQB=0.305916;DP4=19,9,8,11;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.803664;SF=20;SGB=-0.69168;VDB=0.966512	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:19:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	19	22156088	rs200638062	C	T	222	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	missense SNV	ZNF208:NM_007153:exon4:c.G1748A:p.C583Y	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs200638062	.	.	0.00498339	0.003	0.000798722	.	0.0004	0.0048	0.00498339	0.00498339	0.0,D	1.0,D	1.0,D	0.689406,D	.	3.605,H	-1.94,D	8.4453	0.173	2.222	4.002114,23.6	.	AC=1;AN=2;BQB=0.745618;DP4=63,35,46,20;DP=220;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=0.977235;MQSB=0.00669477;RPB=0.914611;SF=20;SGB=-0.693147;VDB=0.742371	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:164:66:255,0,255	.	.	.	.	C	T	0	1	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	22156850	rs199858837	A	G	197.35	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	missense SNV	ZNF208:NM_007153:exon4:c.T986C:p.I329T	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs199858837	.	.	.	.	.	.	.	.	.	0.00434783	1.0,T	0.003,B	0.011,B	1,N	.	0.325,N	1.19,T	5.0767	-4.922	-2.813	.	.	AC=22;AN=34;BQB=0.194136;DP4=523,309,312,325;DP=1873;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=2.88235e-13;MQSB=0.782536;RPB=0.00188978;SF=1,2,3,4,5,6,8,10,13,14,16,17,18,19,20,22,24;SGB=-0.692976;VDB=9.89963e-06	GT:DP:DV:PL	.	0/1:103:26:210,0,255	0/1:113:35:236,0,255	0/1:104:33:238,0,255	1/1:68:68:255,205,0	0/1:85:25:214,0,255	0/1:107:30:206,0,255	.	0/1:127:30:154,0,255	.	0/1:92:31:255,0,255	.	.	1/1:53:53:255,160,0	0/1:87:30:250,0,255	.	1/1:67:67:255,202,0	1/1:54:54:255,163,0	0/1:112:25:179,0,255	0/1:108:34:248,0,255	0/1:108:33:255,0,255	.	0/1:31:13:182,0,255	.	1/1:50:50:255,151,0	A	G	5	12	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	22156858	rs200113618	T	C	130.39	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	synonymous SNV	ZNF208:NM_007153:exon4:c.A978G:p.S326S	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs200113618	.	.	0.0199336	0.0278	0.0433307	.	.	.	0.0199336	0.0199336	.	.	.	.	.	.	.	.	0.104	-3.917	.	.	AC=17;AN=34;BQB=0.243522;DP4=680,467,211,245;DP=1951;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=2.96912e-11;MQSB=0.992146;RPB=8.43887e-05;SF=1,2,3,4,5,6,8,10,13,14,16,17,18,19,20,22,24;SGB=-0.692352;VDB=6.69769e-09	GT:DP:DV:PL	.	0/1:110:21:133,0,255	0/1:113:24:153,0,255	0/1:105:24:161,0,255	0/1:80:47:255,0,255	0/1:98:18:119,0,255	0/1:114:22:110,0,255	.	0/1:137:24:86,0,255	.	0/1:104:20:134,0,255	.	.	0/1:60:41:255,0,225	0/1:102:23:163,0,255	.	0/1:75:45:255,0,255	0/1:61:35:255,0,255	0/1:117:18:80,0,255	0/1:114:22:135,0,255	0/1:117:24:152,0,255	.	0/1:32:8:108,0,255	.	0/1:64:40:255,0,250	T	C	0	17	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	22156863	rs202200782	C	A	121.74	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	missense SNV	ZNF208:NM_007153:exon4:c.G973T:p.V325F	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs202200782	.	.	.	.	.	.	.	.	.	.	0.206,T	0.001,B	0.0,B	1,N	.	-0.255,N	1.13,T	0.9385	-2.968	-3.691	.	.	AC=12;AN=24;BQB=0.248962;DP4=436,338,160,103;DP=1284;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.32929;MQSB=0.617809;RPB=3.6415e-10;SF=2,4,5,6,10,13,14,16,17,20,22,24;SGB=-0.692067;VDB=1.76213e-08	GT:DP:DV:PL	.	.	0/1:115:20:91,0,255	.	0/1:83:35:255,0,255	0/1:95:17:125,0,255	0/1:115:17:71,0,255	.	.	.	0/1:108:20:117,0,255	.	.	0/1:59:21:230,0,255	0/1:101:15:71,0,255	.	0/1:78:33:255,0,255	0/1:65:31:255,0,255	.	.	0/1:121:19:80,0,255	.	0/1:31:5:74,0,255	.	0/1:66:30:255,0,255	C	A	0	12	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	PM2
L	19	22156870	rs200854866	G	A	209.82	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	synonymous SNV	ZNF208:NM_007153:exon4:c.C966T:p.F322F	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs200854866	.	.	.	.	.	0.0350	.	.	.	0.00869565	.	.	.	.	.	.	.	.	-0.751	-0.290	.	.	AC=22;AN=34;BQB=0.0151634;DP4=503,309,419,371;DP=2049;HOB=0.5;ICB=1;MQ0F=0;MQ=55;MQB=4.60665e-05;MQSB=0.947939;RPB=0.991939;SF=1,2,3,4,5,6,8,10,13,14,16,17,18,19,20,22,24;SGB=-0.693021;VDB=1	GT:DP:DV:PL	.	0/1:98:27:196,0,255	0/1:111:39:255,0,255	0/1:105:42:255,0,255	1/1:91:91:255,255,0	0/1:91:31:255,0,255	0/1:113:36:255,0,255	.	0/1:134:39:207,0,255	.	0/1:101:42:255,0,255	.	.	1/1:61:61:255,184,0	0/1:105:40:255,0,255	.	1/1:83:83:255,250,0	1/1:73:73:255,220,0	0/1:109:29:226,0,255	0/1:108:34:253,0,255	0/1:119:40:255,0,255	.	0/1:28:11:167,0,255	.	1/1:72:72:255,217,0	G	A	5	12	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	22157095	rs534477649	A	G	222	PASS	ZNF208	zinc finger protein 208	exonic	NM_007153	.	synonymous SNV	ZNF208:NM_007153:exon4:c.T741C:p.H247H	ENST00000601773.1,ENST00000397126.4,ENST00000599916.1	.	19p12	.	.	.	Score=0.91711;Name=chr19:23158086	.	rs534477649	.	.	0.00498339	0.003	0.000798722	.	0.0004	0.0049	0.00498339	0.00498339	.	.	.	.	.	.	.	.	-0.358	-0.315	.	.	AC=1;AN=2;BQB=0.962087;DP4=31,22,45,21;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.122854;SF=20;SGB=-0.693147;VDB=0.802159	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:119:66:255,0,255	.	.	.	.	A	G	0	1	Zinc finger protein-208	.	.	.	9724325|8467795	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	22363445	rs184803507	A	T	222	PASS	ZNF676	zinc finger protein 676	exonic	NM_001001411	.	synonymous SNV	ZNF676:NM_001001411:exon3:c.T1074A:p.I358I	ENST00000397121.2	.	19p12	.	.	.	Score=0.913254;Name=chr19:22155450	.	rs184803507	.	.	0.00664452	0.0109	0.00219649	.	0.0007	0.0093	0.00664452	0.00600961771635	.	.	.	.	.	.	.	.	0.166	-0.680	.	.	AC=4;AN=8;BQB=0.851903;DP4=301,156,196,125;DP=938;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.438646;MQSB=0.626089;RPB=0.188464;SF=4,15,17,20;SGB=-0.693147;VDB=0.253844	GT:DP:DV:PL	.	.	.	.	0/1:217:90:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:199:74:255,0,255	.	0/1:161:70:255,0,255	.	.	0/1:201:87:255,0,255	.	.	.	.	A	T	0	4	.	.	.	.		.	.	.	.	.	.	.	
M	19	32972985	rs759539087	A	G	222	PASS	DPY19L3	dpy-19-like 3 (C. elegans)	exonic	NM_001172774,NM_207325	.	missense SNV	DPY19L3:NM_001172774:exon19:c.A1990G:p.M664V,DPY19L3:NM_207325:exon19:c.A1990G:p.M664V	ENST00000342179.5,ENST00000586987.1,ENST00000392250.2	.	19q13.11	.	.	.	.	.	rs759539087	.	.	.	.	.	.	2.477e-05	0.0001	.	.	1.0,T	0.0,B	0.0,B	0.961983,N	0.416616,N	-1.245,N	0.63,T	14.3626	-0.535	0.812	.	.	AC=1;AN=2;BQB=0.521933;DP4=9,4,9,5;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.9585;SF=20;SGB=-0.686358;VDB=0.635603	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:255,0,255	.	.	.	.	A	G	0	1	DPY19-like 3	.	.	.	16526957	.	.	.	.	.	.	.	
L	19	34180077	rs76109558	C	T	134	PASS	CHST8	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	splicing	NM_001127895,NM_001127896,NM_022467	.	.	.	ENST00000434302.1,ENST00000438847.3,ENST00000604556.1,ENST00000262622.4	.	19q13.11	.	.	.	.	.	rs76109558	.	.	0.00166113	0.005	0.0113818	.	.	.	.	0.00166113	.	.	.	.	.	.	.	.	-0.250	-1.742	.	.	AC=1;AN=2;BQB=0.685489;DP4=13,0,11,0;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.950498;SF=20;SGB=-0.676189;VDB=0.00091659	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:11:167,0,215	.	.	.	.	C	T	0	1	?Peeling skin syndrome 3, 616265 (3)	.	.	.	22289416|18431515|11445554|11001942|10988300	SULFUR_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;PROTEOGLYCAN_BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;PROTEOGLYCAN_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;HORMONE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	.	SULFOTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	.	.	.	.	
H	19	34869900	rs199742342	C	T	222	PASS	GPI	glucose-6-phosphate isomerase	exonic	NM_000175,NM_001184722,NM_001289789,NM_001289790	.	missense SNV	GPI:NM_001289790:exon6:c.C611T:p.A204V,GPI:NM_000175:exon7:c.C695T:p.A232V,GPI:NM_001184722:exon7:c.C728T:p.A243V,GPI:NM_001289789:exon8:c.C812T:p.A271V	ENST00000586425.1,ENST00000415930.3,ENST00000356487.5	.	19q13.11	.	.	.	.	.	rs199742342	.	.	.	.	.	.	9.07e-05	0.0001	.	.	0.129,T	0.067,B	0.156,B	1,N	0.845274,N	2.6,M	-3.17,D	7.3728	0.872	1.906	1.229205,11.90	.	AC=1;AN=2;BQB=0.326542;DP4=41,23,30,20;DP=169;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.795368;SF=20;SGB=-0.693147;VDB=0.00393013	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:114:50:255,0,255	.	.	.	.	C	T	0	1	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)	.	.	.	11477412|9856489|9635595|8822954|8575767|8530082|8499925|6946512|6825466|5550600|5475507|5475506|5026849|4809302|4711874|4202114|4120258|4076245|3864596|3804329|3764429|3352745|3352744|3034518|3020690|434771|411100	REGULATION_OF_BIOLOGICAL_QUALITY;HEMOSTASIS;REGULATION_OF_BODY_FLUID_LEVELS;IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS;HUMORAL_IMMUNE_RESPONSE	.	.	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PENTOSE_PHOSPHATE_PATHWAY;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	.	BIOCARTA_GLYCOLYSIS_PATHWAY	REACTOME_GLYCOLYSIS;REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
M	19	35832823	rs17719289	A	G	222	PASS	CD22	CD22 molecule	exonic	NM_001185099,NM_001185100,NM_001185101,NM_001278417,NM_001771	.	missense SNV	CD22:NM_001185101:exon7:c.A1459G:p.S487G,CD22:NM_001185099:exon8:c.A1726G:p.S576G,CD22:NM_001278417:exon8:c.A1474G:p.S492G,CD22:NM_001185100:exon9:c.A1990G:p.S664G,CD22:NM_001771:exon9:c.A1990G:p.S664G	ENST00000419549.2,ENST00000544992.2,ENST00000270311.6,ENST00000085219.5,ENST00000594250.1,ENST00000536635.2,ENST00000341773.6	.	19q13.12	.	.	.	.	.	rs17719289	.	.	0.0531561	0.0437	0.00898562	.	0.0038	0.0472	0.0344563290965	0.0480768872596	0.341,T	0.004,B	0.002,B	1,N	0.641406,N	0.29,N	2.7,T	10.6434	-1.308	-1.917	.	.	AC=3;AN=6;BQB=0.863552;DP4=33,55,44,56;DP=247;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.619165;SF=1,17,20;SGB=-0.693139;VDB=0.0377465	GT:DP:DV:PL	.	0/1:63:36:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:24:255,0,255	.	.	0/1:76:40:255,0,255	.	.	.	.	A	G	0	3	CD22 antigen	.	.	.	15133509|12646615|12493916|11021804|10722703|8864124|8496602|1985119	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_HEMATOPOIETIC_CELL_LINEAGE;KEGG_B_CELL_RECEPTOR_SIGNALING_PATHWAY	PID_BCR_5PATHWAY	.	.	
L	19	37005637	rs576745197	C	T	168.5	PASS	ZNF260	zinc finger protein 260	exonic	NM_001012756,NM_001166036,NM_001166037,NM_001166038	.	synonymous SNV	ZNF260:NM_001166037:exon3:c.G504A:p.Q168Q,ZNF260:NM_001166038:exon3:c.G504A:p.Q168Q,ZNF260:NM_001012756:exon4:c.G504A:p.Q168Q,ZNF260:NM_001166036:exon4:c.G504A:p.Q168Q	ENST00000588993.1,ENST00000523638.1,ENST00000592282.1,ENST00000593142.1	.	19q13.12	.	.	.	.	.	rs576745197	.	.	0.00166113	0.003	0.000599042	.	0.0002	0.0034	0.001531391317	0.00166113	.	.	.	.	.	.	.	.	-1.022	-5.037	.	.	AC=2;AN=4;BQB=0.57564;DP4=22,9,11,6;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.297565;SF=2,20;SGB=-0.616816;VDB=0.867547	GT:DP:DV:PL	.	.	0/1:21:6:149,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:11:255,0,255	.	.	.	.	C	T	0	2	Zinc finger protein 260	.	.	.	21051538|16166646|10449921	.	.	.	.	.	.	.	
L	19	37253319	.	G	C	222	PASS	ZNF850	zinc finger protein 850	exonic	NM_001193552,NM_001267779	.	missense SNV	ZNF850:NM_001193552:exon3:c.C27G:p.F9L,ZNF850:NM_001267779:exon3:c.C27G:p.F9L	ENST00000589390.1,ENST00000591344.1	.	19q13.12	.	.	.	Score=0.914757;Name=chr17:21848684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.337	1.636283,14.05	.	AC=1;AN=2;BQB=0.989343;DP4=5,7,6,9;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.935229;MQSB=0.96384;RPB=0.84246;SF=20;SGB=-0.688148;VDB=0.00974814	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:15:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	19	37383091	rs560468006	C	T	222	PASS	ZNF829	zinc finger protein 829	exonic	NM_001037232,NM_001171979	.	missense SNV	ZNF829:NM_001037232:exon6:c.G602A:p.R201Q,ZNF829:NM_001171979:exon6:c.G845A:p.R282Q	ENST00000391711.3,ENST00000526123.1,ENST00000432005.2,ENST00000520965.1	.	19q13.12	.	.	.	.	.	rs560468006	.	.	.	.	.	.	3.311e-05	0.0001	.	.	1.0,T	0.007,B	0.072,B	1,N	.	1.73,L	1.75,T	8.4247	0.112	-4.792	.	.	AC=1;AN=2;BQB=0.744519;DP4=8,5,11,11;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.884685;SF=20;SGB=-0.692562;VDB=0.043975	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:22:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	38189236	rs372759495	C	T	222	PASS	ZNF607	zinc finger protein 607	exonic	NM_001172677,NM_032689	.	missense SNV	ZNF607:NM_001172677:exon5:c.G1793A:p.S598N,ZNF607:NM_032689:exon5:c.G1796A:p.S599N	ENST00000395835.3,ENST00000586606.2,ENST00000355202.4	.	19q13.12	.	.	.	.	.	rs372759495	.	.	0.00996678	0.0079	0.00159744	.	0.0002	0.0028	0.00996678	0.00996678	0.149,T	0.056,B	0.101,B	1,N	.	1.215,L	1.21,T	3.6613	0.119	-1.300	1.331570,12.43	.	AC=1;AN=2;BQB=0.249459;DP4=11,9,9,9;DP=49;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.231656;SF=20;SGB=-0.691153;VDB=0.32022	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:18:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	38798263	rs74719810	C	T	222	PASS	YIF1B	Yip1 interacting factor homolog B (S. cerevisiae)	exonic	NM_001039671,NM_001039672,NM_001039673,NM_001145461,NM_001145462,NM_001145463	.	synonymous SNV	YIF1B:NM_001039671:exon6:c.G624A:p.V208V,YIF1B:NM_001039672:exon6:c.G669A:p.V223V,YIF1B:NM_001039673:exon6:c.G660A:p.V220V,YIF1B:NM_001145461:exon6:c.G618A:p.V206V,YIF1B:NM_001145462:exon6:c.G576A:p.V192V,YIF1B:NM_001145463:exon6:c.G660A:p.V220V	ENST00000392124.3,ENST00000592246.1,ENST00000337679.8,ENST00000592694.1,ENST00000329420.8,ENST00000339413.6,ENST00000591755.1,ENST00000591784.1	.	19q13.2	.	.	Score=818;Name=V$SRF_C	.	.	rs74719810	.	.	0.0215947	0.0258	0.00559105	.	0.0010	0.0138	0.0137825478407	0.0168269354567	.	.	.	.	.	.	.	.	2.684	0.019	.	4.61	AC=2;AN=4;BQB=0.934453;DP4=51,36,37,31;DP=204;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.441765;SF=20,21;SGB=-0.69312;VDB=0.837845	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:32:255,0,255	0/1:79:36:255,0,255	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
M	19	38855602	rs187860202	G	T	222	PASS	CATSPERG	catsper channel auxiliary subunit gamma	exonic	NM_021185	.	missense SNV	CATSPERG:NM_021185:exon21:c.G2547T:p.M849I	ENST00000410018.1,ENST00000409235.3,ENST00000215069.4	.	19q13.2	.	.	.	.	.	rs187860202	.	.	0.013289	0.0109	0.00259585	.	0.0003	0.0039	0.00765695148545	0.0108172823317	0.065,T	0.032,B	0.114,B	1,N	0.186503,N	1.845,L	1.46,T	5.9913	1.117	1.247	.	2.07	AC=2;AN=4;BQB=0.987301;DP4=33,18,46,27;DP=163;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999956;SF=20,21;SGB=-0.69312;VDB=0.282283	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:32:255,0,255	0/1:72:41:255,0,255	.	.	.	G	T	0	2	Cation channel, sperm-associated, gamma	.	.	.	19516020	.	.	.	.	.	.	.	
H	19	38877306	rs192597551	G	T	222	PASS	GGN	gametogenetin	exonic	NM_152657	.	missense SNV	GGN:NM_152657:exon3:c.C596A:p.P199Q	ENST00000334928.6,ENST00000585411.1,ENST00000591809.1	CpG: 181	19q13.2	.	.	.	.	.	rs192597551	.	.	0.00830565	0.006	0.00119808	.	0.0003	0.0043	0.00459417924962	0.00721154110577	0.0,D	0.964,D	1.0,D	1,N	0.019440,N	1.495,L	.	9.8094	1.994	3.845	2.205881,17.55	3.05	AC=1;AN=2;BQB=0.357396;DP4=36,20,31,17;DP=135;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.724974;SF=20;SGB=-0.693147;VDB=0.841821	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:104:48:255,0,255	.	.	.	.	G	T	0	1	Gametogenetin, mouse, homolog of	.	.	.	12574169	GAMETE_GENERATION;SEXUAL_REPRODUCTION;MACROMOLECULE_LOCALIZATION;PROTEIN_LOCALIZATION;REPRODUCTION	.	.	.	.	.	.	
H	19	38995716	rs566495420	G	A	222	PASS	RYR1	ryanodine receptor 1 (skeletal)	exonic	NM_000540,NM_001042723	.	missense SNV	RYR1:NM_000540:exon52:c.G8305A:p.D2769N,RYR1:NM_001042723:exon52:c.G8305A:p.D2769N	ENST00000355481.4,ENST00000359596.3,ENST00000360985.3	.	19q13.2	.	.	.	.	.	rs566495420	CLINSIG=Uncertain significance;CLNDBN=not_provided;CLNACC=RCV000153867.3;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	0	.	0.000199681	.	0.0002	0.0023	.	.	0.059,T	0.104,B	0.806,P	0.846187,N	0.001082,N	0.225,N	-2.86,D	9.8484	1.024	7.652	4.763693,24.7	2.92	AC=1;AN=2;BQB=0.282075;DP4=15,19,16,16;DP=87;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.964353;SF=20;SGB=-0.69312;VDB=0.105266	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:66:32:255,0,255	.	.	.	.	G	A	0	1	{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3); King-Denborough syndrome, 145600 (3)	.	.	.	25517095|25470061|25470059|21048710|20839240|19198614|18765655|18394989|18253926|17538032|17226826|17033962|16917943|16621918|16380615|16284304|16163667|15336975|15336973|15299003|14732627|12719381|12566385|12220451|12136074|12124989|12112081|11741831|11709545|11668625|11448278|11389482|11279498|11274444|11113224|11063719|10966111|10888602|10790202|10484775|10097181|9831351|9543323|9520251|9497245|9489997|9450902|9147872|9106529|9030597|8828983|8661021|8592342|8432525|8401544|8235594|8220423|8220422|8012359|7959768|7889656|7849712|7829078|7762556|7621815|7586638|7554356|7515481|7511586|7299413|2298749|2174405|1971150|1970795|1862346|1774074|1774073|1774061|1639409|1354642|1329581|1318804	ESTABLISHMENT_OF_LOCALIZATION;DI___TRI_VALENT_INORGANIC_CATION_TRANSPORT;CALCIUM_ION_TRANSPORT;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION	.	.	.	
L	19	39063879	rs201629205	G	A	222	PASS	RYR1	ryanodine receptor 1 (skeletal)	exonic	NM_000540,NM_001042723	.	synonymous SNV	RYR1:NM_001042723:exon95:c.G14046A:p.L4682L,RYR1:NM_000540:exon96:c.G14061A:p.L4687L	ENST00000355481.4,ENST00000359596.3,ENST00000360985.3	.	19q13.2	.	.	.	.	.	rs201629205	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000180758.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.00996678	0.0119	0.00279553	.	0.0003	0.0037	0.00535987623277	0.00996678	.	.	.	.	.	.	.	.	-0.085	-0.571	.	.	AC=2;AN=4;BQB=0.901319;DP4=15,24,20,18;DP=93;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.850154;SF=20,21;SGB=-0.686358;VDB=0.681875	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:14:255,0,255	0/1:45:24:255,0,255	.	.	.	G	A	0	2	{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3); King-Denborough syndrome, 145600 (3)	.	.	.	25517095|25470061|25470059|21048710|20839240|19198614|18765655|18394989|18253926|17538032|17226826|17033962|16917943|16621918|16380615|16284304|16163667|15336975|15336973|15299003|14732627|12719381|12566385|12220451|12136074|12124989|12112081|11741831|11709545|11668625|11448278|11389482|11279498|11274444|11113224|11063719|10966111|10888602|10790202|10484775|10097181|9831351|9543323|9520251|9497245|9489997|9450902|9147872|9106529|9030597|8828983|8661021|8592342|8432525|8401544|8235594|8220423|8220422|8012359|7959768|7889656|7849712|7829078|7762556|7621815|7586638|7554356|7515481|7511586|7299413|2298749|2174405|1971150|1970795|1862346|1774074|1774073|1774061|1639409|1354642|1329581|1318804	ESTABLISHMENT_OF_LOCALIZATION;DI___TRI_VALENT_INORGANIC_CATION_TRANSPORT;CALCIUM_ION_TRANSPORT;METAL_ION_TRANSPORT;TRANSPORT;CATION_TRANSPORT;ION_TRANSPORT;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;CYTOPLASMIC_PART;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ENDOPLASMIC_RETICULUM;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION	.	.	.	
H	19	39369910	rs200229086	A	G	222	PASS	SIRT2	sirtuin 2	exonic	NM_012237,NM_030593	.	missense SNV	SIRT2:NM_030593:exon15:c.T944C:p.I315T,SIRT2:NM_012237:exon16:c.T1055C:p.I352T	ENST00000358931.5,ENST00000392081.2,ENST00000249396.7	.	19q13.2	.	.	Score=916;Name=V$CDPCR3HD_01	.	.	rs200229086	.	.	0.00830565	0.0089	0.00239617	.	0.0003	0.0042	0.00459417924962	0.00830565	0.022,D	0.985,D	1.0,D	1,D	0.000355,D	2.83,M	2.26,T	10.2741	0.887	5.029	5.823900,27.2	4.08	AC=1;AN=2;BQB=0.812004;DP4=26,8,30,10;DP=105;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.561845;SF=20;SGB=-0.693145;VDB=0.773838	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:74:40:255,0,255	.	.	.	.	A	G	0	1	Sirtuin, S. cerevisiae, homolog 2	.	.	.	24203696|23201684|19270680|17588900|12697818|12620231|12610228|12459580|10619427|10473645|10393250|10381378|6098447	MUSCLE_DEVELOPMENT;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;STRIATED_MUSCLE_DEVELOPMENT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;COVALENT_CHROMATIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;HISTONE_MODIFICATION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CHROMOSOME_ORGANIZATION_AND_BIOGENESIS;CHROMATIN_MODIFICATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;ESTABLISHMENT_AND_OR_MAINTENANCE_OF_CHROMATIN_ARCHITECTURE;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	CATION_BINDING;ZINC_ION_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDS;SMALL_CONJUGATING_PROTEIN_BINDING;UBIQUITIN_BINDING;HISTONE_DEACETYLASE_BINDING;ION_BINDING;PROTEIN_DEACETYLASE_ACTIVITY;DEACETYLASE_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;ENZYME_BINDING;TRANSITION_METAL_ION_BINDING;HYDROLASE_ACTIVITY_ACTING_ON_CARBON_NITROGEN_NOT_PEPTIDEBONDSIN_LINEAR_AMIDES	.	PID_HDAC_CLASSIII_PATHWAY;PID_HDAC_CLASSI_PATHWAY	.	.	PP3
H	19	40276452	rs529686425	C	A	222	PASS	LEUTX	leucine twenty homeobox	exonic	NM_001143832	.	missense SNV	LEUTX:NM_001143832:exon3:c.C184A:p.P62T	ENST00000396841.4	.	19q13.2	.	.	.	.	.	rs529686425	.	.	0	0.001	0.000199681	.	4.602e-05	0.0016	.	.	0.345,T	0.729,P	0.994,D	1,N	.	0.805,L	-1.82,D	5.1841	-0.053	-0.464	.	.	AC=1;AN=2;BQB=0.491394;DP4=18,8,23,4;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.425259;SF=20;SGB=-0.693021;VDB=0.376181	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:27:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	19	40433165	rs150910536	G	A	222	PASS	FCGBP	Fc fragment of IgG binding protein	exonic	NM_003890	.	synonymous SNV	FCGBP:NM_003890:exon2:c.C1104T:p.S368S	ENST00000221347.6	.	19q13.2	.	.	.	.	.	rs150910536	.	.	.	.	.	7.7e-05	0.0002	0.0027	.	.	.	.	.	.	.	.	.	.	-0.692	-3.160	.	.	AC=1;AN=2;BQB=0.526896;DP4=35,4,31,16;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0441255;SF=20;SGB=-0.693147;VDB=0.305332	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:86:47:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	42402593	rs2303797	C	T	222	PASS	ARHGEF1	Rho guanine nucleotide exchange factor (GEF) 1	exonic	NM_004706,NM_198977,NM_199002	.	missense SNV	ARHGEF1:NM_198977:exon13:c.C1025T:p.P342L,ARHGEF1:NM_004706:exon14:c.C1124T:p.P375L,ARHGEF1:NM_199002:exon14:c.C1169T:p.P390L	ENST00000378152.4,ENST00000347545.4,ENST00000337665.4,ENST00000599846.1,ENST00000354532.3	.	19q13.2	.	.	.	.	.	rs2303797	.	.	0.0249169	0.0268	0.00579073	.	0.0022	0.0405	0.0222052062787	0.03004805625	0.008,D	0.987,D	0.998,D	1,D	0.000000,D	2.14,M	-0.09,T	14.6478	2.121	4.779	6.499326,31	4.28	AC=2;AN=4;BQB=0.740313;DP4=32,28,26,28;DP=153;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.620009;SF=20,24;SGB=-0.692976;VDB=0.195455	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:26:255,0,255	.	.	.	0/1:59:28:255,0,255	C	T	0	2	Rho guanine nucleotide exchange factor, 115-kD	.	.	.	20098430|16286020|8810315	CELL_PROLIFERATION_GO_0008283	MEMBRANE;CYTOPLASM;PLASMA_MEMBRANE	RAS_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GTPASE_REGULATOR_ACTIVITY;SMALL_GTPASE_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;RHO_GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_LYSOPHOSPHOLIPID_PATHWAY;PID_RHOA_REG_PATHWAY;PID_TXA2PATHWAY;PID_THROMBIN_PAR1_PATHWAY	BIOCARTA_MYOSIN_PATHWAY;BIOCARTA_RHO_PATHWAY;BIOCARTA_PAR1_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	PP3
L	19	43698560	rs199876570	T	C	222	PASS	PSG4	pregnancy specific beta-1-glycoprotein 4	exonic	NM_001276495,NM_001316339,NM_002780,NM_213633	.	missense SNV	PSG4:NM_001276495:exon4:c.A896G:p.Y299C,PSG4:NM_001316339:exon4:c.A809G:p.Y270C,PSG4:NM_213633:exon4:c.A896G:p.Y299C,PSG4:NM_002780:exon5:c.A1175G:p.Y392C	ENST00000433626.2,ENST00000405312.3,ENST00000244295.9	.	19q13.31	.	.	.	Score=0.950092;Name=chr19:43762201	.	rs199876570	.	.	0.00664452	0.004	0.000798722	.	0.0001	0.0020	0.00664452	0.00664452	0.0,D	1.0,D	1.0,D	1,N	.	3.6,H	0.36,T	4.474	0.506	0.017	2.787069,21.3	.	AC=2;AN=4;BQB=0.961818;DP4=109,39,112,38;DP=428;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.146595;SF=0,20;SGB=-0.693147;VDB=0.0415028	GT:DP:DV:PL	0/1:138:67:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:160:83:255,0,255	.	.	.	.	T	C	0	2	Pregnancy-specific beta-1-glycoprotein-4	.	.	.	11501563|8432525|7851896|7851895|1690992|1579453|1572650|1572649	MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;REPRODUCTION	.	.	.	.	.	.	
L	19	43709622	rs771256435	C	T	228	PASS	PSG4	pregnancy specific beta-1-glycoprotein 4	splicing	NM_001276495,NM_001316339,NM_002780,NM_213633	NM_001276495:exon1:c.64+3G>A;NM_001316339:exon1:c.64+3G>A;NM_002780:exon1:c.64+3G>A;NM_213633:exon1:c.64+3G>A	.	.	ENST00000433626.2,ENST00000405312.3,ENST00000244295.9	.	19q13.31	.	.	.	Score=0.950092;Name=chr19:43762201	.	rs771256435	.	.	.	.	.	.	1.709e-05	0	.	.	.	.	.	.	.	.	.	.	-0.096	-0.033	.	.	AC=2;AN=2;DP4=0,0,45,3;DP=70;MQ0F=0;MQ=59;MQSB=0.99187;SF=20;SGB=-0.693147;VDB=0.719593	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:48:48:255,144,0	.	.	.	.	C	T	1	0	Pregnancy-specific beta-1-glycoprotein-4	.	.	.	11501563|8432525|7851896|7851895|1690992|1579453|1572650|1572649	MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;REPRODUCTION	.	.	.	.	.	.	PM2
L	19	43709654	rs11883277	C	T	228	PASS	PSG4	pregnancy specific beta-1-glycoprotein 4	exonic	NM_001276495,NM_001316339,NM_002780,NM_213633	.	missense SNV	PSG4:NM_001276495:exon1:c.G35A:p.R12H,PSG4:NM_001316339:exon1:c.G35A:p.R12H,PSG4:NM_002780:exon1:c.G35A:p.R12H,PSG4:NM_213633:exon1:c.G35A:p.R12H	ENST00000433626.2,ENST00000405312.3,ENST00000244295.9	.	19q13.31	.	.	.	Score=0.950092;Name=chr19:43762201	.	rs11883277	.	.	0	0.002	0.000998403	.	0.0007	0.0001	.	.	0.774,T	0.003,B	0.005,B	1,N	.	-0.49,N	0.58,T	1.4712	-3.109	-5.428	.	.	AC=36,2;AN=38;DP4=0,0,1291,306;DP=2180;MQ0F=0;MQ=59;MQSB=1;SF=3,4,5,6,7,9,10,12,13,14,15,16,17,18,19,20,22,23,24;SGB=-0.693147;VDB=0.600947	GT:DP:DV:PL	.	.	.	1/1:52:52:255,157,0,.,.,.	1/1:113:113:255,255,0,.,.,.	1/1:171:171:255,255,0,.,.,.	1/1:133:133:255,255,0,.,.,.	1/1:59:59:255,178,0,.,.,.	.	1/1:51:51:255,154,0,.,.,.	1/1:67:67:255,202,0,.,.,.	.	1/1:61:61:255,184,0,.,.,.	1/1:130:130:255,255,0,.,.,.	1/1:112:112:255,255,0,.,.,.	1/1:60:60:255,181,0,.,.,.	2/2:54:54:255,.,.,163,.,0	1/1:57:57:255,172,0,.,.,.	1/1:53:53:255,160,0,.,.,.	1/1:109:109:255,255,0,.,.,.	1/1:54:54:255,160,0,.,.,.	.	1/1:48:48:255,144,0,.,.,.	1/1:78:78:255,235,0,.,.,.	1/1:135:135:255,255,0,.,.,.	C	A,T	19	0	Pregnancy-specific beta-1-glycoprotein-4	.	.	.	11501563|8432525|7851896|7851895|1690992|1579453|1572650|1572649	MULTI_ORGANISM_PROCESS;FEMALE_PREGNANCY;REPRODUCTIVE_PROCESS;REPRODUCTION	.	.	.	.	.	.	
H	19	43965886	rs767515075	G	A	222	PASS	LYPD3	LY6/PLAUR domain containing 3	exonic	NM_014400	.	missense SNV	LYPD3:NM_014400:exon5:c.C658T:p.R220C	ENST00000244333.3	.	19q13.31	.	.	Score=771;Name=V$PAX5_01	.	.	rs767515075	.	.	.	.	.	.	7.419e-05	0.0003	.	.	0.007,D	0.97,D	1.0,D	0.999739,D	0.003473,N	0.345,N	-0.44,T	13.21	2.396	4.530	7.497002,34	4.38	AC=1;AN=2;BQB=0.979939;DP4=12,10,20,14;DP=74;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.215076;SF=20;SGB=-0.693132;VDB=0.0350925	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:34:255,0,255	.	.	.	.	G	A	0	1	LY6/PLAUR domain-containing protein 3	.	.	.	15012588|12592373|11179665	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;ANCHORED_TO_MEMBRANE;ANCHORED_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
H	19	43968488	rs760902305	G	A	222	PASS	LYPD3	LY6/PLAUR domain containing 3	exonic	NM_014400	.	missense SNV	LYPD3:NM_014400:exon2:c.C200T:p.A67V	ENST00000244333.3	CpG: 108	19q13.31	.	.	.	.	.	rs760902305	.	.	.	.	.	.	4.496e-05	0.0007	.	.	0.012,D	0.999,D	1.0,D	0.95447,D	0.002504,N	0,N	-0.42,T	13.9639	2.437	3.273	7.206820,34	4.88	AC=1;AN=2;BQB=0.999033;DP4=21,1,19,5;DP=57;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.507043;SF=20;SGB=-0.692831;VDB=0.961804	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:24:255,0,255	.	.	.	.	G	A	0	1	LY6/PLAUR domain-containing protein 3	.	.	.	15012588|12592373|11179665	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;ANCHORED_TO_MEMBRANE;ANCHORED_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
H	19	43998863	rs142679800	G	C	222	PASS	PHLDB3	pleckstrin homology-like domain, family B, member 3	exonic	NM_198850	.	missense SNV	PHLDB3:NM_198850:exon9:c.C1140G:p.S380R	ENST00000292140.5	.	19q13.31	.	.	.	.	.	rs142679800	.	.	0.0249169	0.0218	0.00439297	8.1e-05	0.0024	0.0308	0.0160796138744	0.0228365057692	0.094,T	0.987,D	0.998,D	1,D	.	1.04,L	0.71,T	9.2941	1.056	1.129	4.526342,24.3	3.55	AC=2;AN=4;BQB=0.981852;DP4=37,8,28,14;DP=123;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.672996;SF=6,20;SGB=-0.692352;VDB=0.241056	GT:DP:DV:PL	.	.	.	.	.	.	0/1:51:21:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:21:255,0,255	.	.	.	.	G	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	19	44085771	.	T	G	222	PASS	PINLYP	phospholipase A2 inhibitor and LY6/PLAUR domain containing	exonic	NM_001193621,NM_001193622	.	missense SNV	PINLYP:NM_001193622:exon3:c.T133G:p.F45V,PINLYP:NM_001193621:exon5:c.T469G:p.F157V	ENST00000594374.1,ENST00000562255.1,ENST00000569031.2,ENST00000562365.2,ENST00000599207.1	.	19q13.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.179	1.390	3.453862,23.0	5.39	AC=1;AN=2;BQB=0.925065;DP4=25,9,17,7;DP=78;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.919204;SF=20;SGB=-0.692831;VDB=0.197286	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:24:255,0,255	.	.	.	.	T	G	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
M	19	44301925	rs114185213	C	T	222	PASS	LYPD5	LY6/PLAUR domain containing 5	exonic	NM_001031749,NM_001288763,NM_182573	.	missense SNV	LYPD5:NM_001288763:exon4:c.G445A:p.E149K,LYPD5:NM_001031749:exon5:c.G574A:p.E192K,LYPD5:NM_182573:exon5:c.G445A:p.E149K	ENST00000594013.1,ENST00000414615.2,ENST00000377950.3	.	19q13.31	.	.	Score=785;Name=V$NRSF_01	.	.	rs114185213	.	.	0.0116279	0.0089	0.00219649	7.7e-05	0.0003	0.0028	0.00842266238897	0.0116279	0.52,T	0.002,B	0.004,B	1,N	0.141071,N	0,N	-0.45,T	8.7906	-2.275	-2.094	.	.	AC=1;AN=2;BQB=0.797139;DP4=40,8,25,11;DP=121;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.509401;SF=20;SGB=-0.693139;VDB=0.453988	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:84:36:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	19	44635679	rs753900282	T	C	222	PASS	ZNF225	zinc finger protein 225	exonic	NM_013362	.	synonymous SNV	ZNF225:NM_013362:exon5:c.T912C:p.N304N	ENST00000590612.1,ENST00000262894.6,ENST00000592780.1	.	19q13.31	.	.	.	.	.	rs753900282	.	.	.	.	.	.	8.269e-06	0	.	.	.	.	.	.	.	.	.	.	-0.213	-5.451	.	.	AC=1;AN=2;BQB=0.898863;DP4=11,11,12,12;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.993974;SF=20;SGB=-0.692831;VDB=0.426882	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:24:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	PM2
H	19	45252055	.	G	A	137	PASS	BCL3	B-cell CLL/lymphoma 3	exonic	NM_005178	.	missense SNV	BCL3:NM_005178:exon1:c.G8A:p.R3Q	ENST00000164227.5,ENST00000487394.1	CpG: 43	19q13.32	.	.	Score=813;Name=V$PAX5_01	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	0.0,D	0.953,D	0.99,D	0.939994,N	.	0.805,L	0.62,T	9.1007	1.545	2.652	6.665196,32	2.77	AC=1;AN=2;BQB=0.750668;DP4=3,0,3,2;DP=13;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.900802;MQSB=1;RPB=0.600535;SF=20;SGB=-0.590765;VDB=0.43596	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:8:5:170,0,114	.	.	.	.	G	A	0	1	Leukemia/lymphoma, B-cell, 3 (2)	.	.	.	17673665|16384933|15546001|15469820|11323692|3122218|1923524|1501714|1406939	POSITIVE_REGULATION_OF_TRANSLATION;RESPONSE_TO_VIRUS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NUCLEAR_IMPORT;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;MULTI_ORGANISM_PROCESS;REGULATION_OF_DNA_BINDING;CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_APOPTOSIS;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NEGATIVE_REGULATION_OF_CELLULAR_BIOSYNTHETIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;BIOSYNTHETIC_PROCESS;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;PROGRAMMED_CELL_DEATH;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NUCLEAR_TRANSPORT;RESPONSE_TO_LIGHT_STIMULUS;PROTEIN_TARGETING;PROTEIN_IMPORT;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;INTERLEUKIN_8_BIOSYNTHETIC_PROCESS;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;CYTOKINE_PRODUCTION;CELLULAR_BIOSYNTHETIC_PROCESS;REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;INTERLEUKIN_8_PRODUCTION;PROTEIN_IMPORT_INTO_NUCLEUS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;RESPONSE_TO_ABIOTIC_STIMULUS;RESPONSE_TO_BIOTIC_STIMULUS;PROTEIN_KINASE_CASCADE;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;RESPONSE_TO_OTHER_ORGANISM;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_RESULTING_IN_INDUCTION_OF_APOPTOSIS;PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_INTRACELLULAR_TRANSPORT;CYTOKINE_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;RESPONSE_TO_UV;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;RESPONSE_TO_RADIATION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_TRANSPORT;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_TRANSLATION;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;DNA_DAMAGE_RESPONSESIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR;PROTEIN_TRANSPORT;TRANSLATION;PROTEIN_IMPORT_INTO_NUCLEUS_TRANSLOCATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;PROTEIN_LOCALIZATION;REGULATION_OF_PROTEIN_IMPORT_INTO_NUCLEUS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;RESPONSE_TO_DNA_DAMAGE_STIMULUS;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION;REGULATION_OF_BINDING;APOPTOSIS_GO;NEGATIVE_REGULATION_OF_BIOSYNTHETIC_PROCESS;NUCLEOCYTOPLASMIC_TRANSPORT;INDUCTION_OF_APOPTOSIS_BY_INTRACELLULAR_SIGNALS	CYTOPLASM;NUCLEUS;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	PROTEIN_BINDING_BRIDGING;TRANSCRIPTION_FACTOR_BINDING	.	PID_NFKAPPABATYPICALPATHWAY	.	.	
L	19	45316554	rs575984275	G	A	222	PASS	BCAM	basal cell adhesion molecule (Lutheran blood group)	exonic	NM_001013257,NM_005581	.	synonymous SNV	BCAM:NM_001013257:exon5:c.G552A:p.T184T,BCAM:NM_005581:exon5:c.G552A:p.T184T	ENST00000589651.1,ENST00000270233.6	CpG: 31	19q13.32	.	.	Score=900;Name=V$USF_01	.	.	rs575984275	.	.	0	0.001	0.000199681	.	3.406e-05	0.0002	.	.	.	.	.	.	.	.	.	.	-0.745	-0.792	1.601351,13.86	.	AC=1;AN=2;BQB=0.472269;DP4=30,17,26,8;DP=104;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.922404;SF=20;SGB=-0.693132;VDB=0.884465	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:81:34:255,0,255	.	.	.	.	G	A	0	1	[Blood group, Lutheran system], 111200 (3); [Blood group, Auberger system], 111200 (3); [Blood group, Lutheran null], 247420 (3)	.	.	.	14829286|14496427|14025138|11133776|9192786|9166867|8781446|7954395|7777537|6745937|3250330|2907851|2644738|2339521|1862644|835569|752556	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;CELL_SURFACE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	
H	19	45540748	rs745736943	C	T	222	PASS	RELB	v-rel avian reticuloendotheliosis viral oncogene homolog B	exonic	NM_006509	.	unknown	UNKNOWN	ENST00000505236.1,ENST00000540120.1,ENST00000221452.8	CpG: 30	19q13.32	.	.	.	.	.	rs745736943	.	.	.	.	.	.	2.509e-05	0.0002	.	.	.	.	.	.	.	.	.	.	-1.436	-2.292	2.313414,18.25	.	AC=1;AN=2;BQB=0.117397;DP4=26,13,21,9;DP=95;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.36683;SF=20;SGB=-0.693097;VDB=0.922333	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:69:30:255,0,255	.	.	.	.	C	T	0	1	v-rel avian reticuloendotheliosis viral oncogene homolog B	.	.	.	18322009|10540217|8183565|1577270	.	.	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;DNA_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY	PID_IL12_2PATHWAY	.	.	
L	19	46857021	rs146577092	C	T	222	PASS	PPP5C	protein phosphatase 5, catalytic subunit	exonic	NM_001204284,NM_006247	.	synonymous SNV	PPP5C:NM_001204284:exon2:c.C138T:p.N46N,PPP5C:NM_006247:exon2:c.C138T:p.N46N	ENST00000391919.1,ENST00000012443.4	.	19q13.32	.	.	.	.	.	rs146577092	.	.	0.0166113	0.0198	0.00399361	.	0.0014	0.0186	0.0145482457887	0.0144230794471	.	.	.	.	.	.	.	.	1.290	0.088	1.737223,14.62	2.93	AC=2;AN=4;BQB=0.429031;DP4=44,8,28,11;DP=118;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.691266;SF=15,20;SGB=-0.691153;VDB=0.0924054	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:18:255,0,255	.	.	.	.	0/1:47:21:255,0,255	.	.	.	.	C	T	0	2	Protein phosphatase-5, catalytic subunit	.	.	.	24333728|16549782|12167160|8666404|8561788|7925273	POSITIVE_REGULATION_OF_SIGNAL_TRANSDUCTION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;M_PHASE;I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;CELL_CYCLE_PROCESS;REGULATION_OF_SIGNAL_TRANSDUCTION;DEPHOSPHORYLATION;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;POSITIVE_REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;MITOSIS;CELL_CYCLE_GO_0007049;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;M_PHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_I_KAPPAB_KINASE_NF_KAPPAB_CASCADE	NUCLEUS	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY	PID_REG_GR_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY	.	.	
L	19	47111809	rs755348000	G	A	222	PASS	CALM3	calmodulin 3 (phosphorylase kinase, delta)	exonic	NM_005184	.	synonymous SNV	CALM3:NM_005184:exon4:c.G249A:p.E83E	ENST00000291295.9,ENST00000599839.1,ENST00000596362.1,ENST00000594523.1,ENST00000477244.1,ENST00000391918.2,ENST00000597743.1,ENST00000598871.1	.	19q13.32	.	.	.	.	.	rs755348000	.	.	.	.	.	.	8.244e-05	0.0012	0.00284091	.	.	.	.	.	.	.	.	.	2.586	2.392	1.544574,13.55	4.99	AC=1;AN=2;BQB=0.953474;DP4=10,21,6,14;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.910087;SF=20;SGB=-0.692067;VDB=0.0568154	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:20:255,0,255	.	.	.	.	G	A	0	1	Calmodulin-3	.	.	.	9681195|8476923|8314583|3182832	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	MEMBRANE;CYTOPLASM;PLASMA_MEMBRANE	CATION_BINDING;CALCIUM_ION_BINDING;PROTEIN_N_TERMINUS_BINDING;ION_BINDING	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM;KEGG_OOCYTE_MEIOSIS;KEGG_VASCULAR_SMOOTH_MUSCLE_CONTRACTION;KEGG_LONG_TERM_POTENTIATION;KEGG_NEUROTROPHIN_SIGNALING_PATHWAY;KEGG_OLFACTORY_TRANSDUCTION;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_GNRH_SIGNALING_PATHWAY;KEGG_MELANOGENESIS;KEGG_ALZHEIMERS_DISEASE;KEGG_GLIOMA	.	BIOCARTA_NO1_PATHWAY;BIOCARTA_AT1R_PATHWAY;BIOCARTA_BCR_PATHWAY;BIOCARTA_BIOPEPTIDES_PATHWAY;BIOCARTA_CACAM_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_GCR_PATHWAY;BIOCARTA_CALCINEURIN_PATHWAY;BIOCARTA_NDKDYNAMIN_PATHWAY;BIOCARTA_FCER1_PATHWAY;BIOCARTA_FMLP_PATHWAY;BIOCARTA_PYK2_PATHWAY;BIOCARTA_VIP_PATHWAY;BIOCARTA_NFAT_PATHWAY;BIOCARTA_NOS1_PATHWAY;BIOCARTA_CCR5_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_MEF2D_PATHWAY;BIOCARTA_GPCR_PATHWAY;BIOCARTA_TCR_PATHWAY	REACTOME_GLYCOGEN_BREAKDOWN_GLYCOGENOLYSIS;REACTOME_SIGNALLING_BY_NGF;REACTOME_DAG_AND_IP3_SIGNALING;REACTOME_TETRAHYDROBIOPTERIN_BH4_SYNTHESIS_RECYCLING_SALVAGE_AND_REGULATION;REACTOME_SIGNALING_BY_ERBB2;REACTOME_SIGNALING_BY_EGFR_IN_CANCER;REACTOME_ANTIGEN_ACTIVATES_B_CELL_RECEPTOR_LEADING_TO_GENERATION_OF_SECOND_MESSENGERS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_ENOS_ACTIVATION_AND_REGULATION;REACTOME_RESPONSE_TO_ELEVATED_PLATELET_CYTOSOLIC_CA2_;REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_SIGNALING_BY_GPCR;REACTOME_OPIOID_SIGNALLING;REACTOME_CA_DEPENDENT_EVENTS;REACTOME_DARPP_32_EVENTS;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_PLC_BETA_MEDIATED_EVENTS;REACTOME_SIGNALING_BY_PDGF;REACTOME_DOWNSTREAM_SIGNAL_TRANSDUCTION;REACTOME_MUSCLE_CONTRACTION;REACTOME_RAS_ACTIVATION_UOPN_CA2_INFUX_THROUGH_NMDA_RECEPTOR;REACTOME_SMOOTH_MUSCLE_CONTRACTION;REACTOME_ACTIVATION_OF_NMDA_RECEPTOR_UPON_GLUTAMATE_BINDING_AND_POSTSYNAPTIC_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_RAS;REACTOME_POST_NMDA_RECEPTOR_ACTIVATION_EVENTS;REACTOME_CREB_PHOSPHORYLATION_THROUGH_THE_ACTIVATION_OF_CAMKII;REACTOME_DOWNSTREAM_SIGNALING_OF_ACTIVATED_FGFR;REACTOME_PHOSPHOLIPASE_C_MEDIATED_CASCADE;REACTOME_ACTIVATION_OF_KAINATE_RECEPTORS_UPON_GLUTAMATE_BINDING;REACTOME_IONOTROPIC_ACTIVITY_OF_KAINATE_RECEPTORS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_GLUCOSE_METABOLISM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION;REACTOME_SIGNALING_BY_FGFR	
H	19	47570661	rs539808218	T	C	222	PASS	ZC3H4	zinc finger CCCH-type containing 4	exonic	NM_015168	.	missense SNV	ZC3H4:NM_015168:exon15:c.A2864G:p.Q955R	ENST00000594019.1,ENST00000253048.5	.	19q13.32	.	.	.	.	.	rs539808218	.	.	0	0.001	0.000199681	.	0.0003	0.0034	0.00142045	.	0.004,D	0.977,D	0.994,D	0.999694,D	0.000000,D	2.97,M	1.31,T	10.6748	0.889	7.384	1.165359,11.56	4.14	AC=1;AN=2;BQB=0.789563;DP4=40,21,35,18;DP=151;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.892375;SF=20;SGB=-0.693147;VDB=0.443925	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:114:53:255,0,255	.	.	.	.	T	C	0	1	.	.	.	.		.	.	.	.	.	.	.	PP3
L	19	47634199	rs371247946	G	A	208	PASS	SAE1	SUMO1 activating enzyme subunit 1	exonic	NM_001145713,NM_001145714,NM_005500	.	synonymous SNV	SAE1:NM_001145713:exon1:c.G12A:p.K4K,SAE1:NM_001145714:exon1:c.G12A:p.K4K,SAE1:NM_005500:exon1:c.G12A:p.K4K	ENST00000270225.7,ENST00000598840.1,ENST00000540850.1,ENST00000392776.3,ENST00000413379.3	CpG: 49	19q13.32	.	.	.	.	.	rs371247946	.	.	0	0.001	0.000199681	.	0.0002	0.0066	0.00142045	.	.	.	.	.	.	.	.	.	1.288	2.628	1.926618,15.75	4.35	AC=1;AN=2;BQB=0.164989;DP4=8,0,15,1;DP=36;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.121941;SF=20;SGB=-0.689466;VDB=0.217948	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:16:241,0,196	.	.	.	.	G	A	0	1	SUMO1-activating enzyme, subunit 1	.	.	.	22157079|20164921|11481243|10217437|10187858|9920803	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;PROTEIN_UBIQUITINATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;UBIQUITIN_CYCLE	.	ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	.	.	REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	
L	19	48601512	rs11564538	G	A	202.75	PASS	PLA2G4C	phospholipase A2, group IVC (cytosolic, calcium-independent)	exonic	NM_001159322,NM_001159323,NM_003706	.	missense SNV	PLA2G4C:NM_001159322:exon6:c.C482T:p.P161L,PLA2G4C:NM_001159323:exon6:c.C452T:p.P151L,PLA2G4C:NM_003706:exon6:c.C452T:p.P151L	ENST00000413144.2,ENST00000599921.1,ENST00000354276.3,ENST00000599111.1	.	19q13.33	.	.	.	.	.	rs11564538	.	.	0.0332226	0.0437	0.0459265	0.0474	0.0451	0.0407	0.030627880245	0.0312500182692	0.188,T	0.017,B	0.085,B	1,N	0.354271,U	-0.205,N	3.73,T	3.1058	0.322	-0.006	.	.	AC=4;AN=8;BQB=0.981133;DP4=56,56,35,42;DP=252;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.51094;SF=12,18,20,22;SGB=-0.689466;VDB=0.0787794	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:16:255,0,255	.	.	.	.	.	0/1:53:22:255,0,255	.	0/1:57:28:255,0,255	.	0/1:35:11:179,0,255	.	.	G	A	0	4	Phospholipase A2, group IVC	.	.	.	10085124|9705332	LIPID_CATABOLIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;CELLULAR_LIPID_CATABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;CATABOLIC_PROCESS	CYTOPLASMIC_PART;MEMBRANE;CYTOPLASM;CYTOSOL	LIPASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHOLIPASE_A2_ACTIVITY;CARBOXYLESTERASE_ACTIVITY;PHOSPHOLIPASE_ACTIVITY	.	.	.	REACTOME_ACYL_CHAIN_REMODELLING_OF_PI;REACTOME_ACYL_CHAIN_REMODELLING_OF_PC;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_ACYL_CHAIN_REMODELLING_OF_PE;REACTOME_GLYCEROPHOSPHOLIPID_BIOSYNTHESIS;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
L	19	49110394	rs149260271	C	T	222	PASS	SPACA4	sperm acrosome associated 4	exonic	NM_133498	.	synonymous SNV	SPACA4:NM_133498:exon1:c.C159T:p.V53V	ENST00000321762.1,ENST00000263266.3	.	19q13.33	.	.	.	.	.	rs149260271	.	.	.	.	.	7.7e-05	5.004e-05	0.0002	.	.	.	.	.	.	.	.	.	.	-0.295	-0.214	1.161910,11.55	.	AC=1;AN=2;BQB=0.440328;DP4=42,17,38,26;DP=172;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980698;SF=20;SGB=-0.693147;VDB=0.0441043	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:123:64:255,0,255	.	.	.	.	C	T	0	1	Sperm acrosome-associated protein 4	.	.	.	12788941	.	.	.	.	.	.	.	
L	19	49488737	rs761669741	G	A	222	PASS	GYS1	glycogen synthase 1 (muscle)	exonic	NM_001161587,NM_002103	.	synonymous SNV	GYS1:NM_001161587:exon4:c.C612T:p.H204H,GYS1:NM_002103:exon5:c.C804T:p.H268H	ENST00000541188.1,ENST00000263276.6,ENST00000540532.1,ENST00000544287.1,ENST00000323798.3	.	19q13.33	.	.	.	.	.	rs761669741	.	.	.	.	.	.	1.649e-05	0.0002	.	.	.	.	.	.	.	.	.	.	2.360	2.796	.	4.75	AC=1;AN=2;BQB=0.628421;DP4=28,3,24,4;DP=83;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.274043;SF=20;SGB=-0.693054;VDB=0.535325	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:28:255,0,255	.	.	.	.	G	A	0	1	Glycogen storage disease 0, muscle, 611556 (3)	.	.	.	19699667|18358695|17928598|16306363|15711014|15282316|15282316|10770201|10447527|8479504|8479502|8449521|8416266|8040269|2493642	.	.	.	KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY	PID_INSULIN_GLUCOSE_PATHWAY	.	REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
H	19	49878082	rs141628956	C	T	222	PASS	DKKL1	dickkopf-like 1	exonic	NM_001197301,NM_001197302,NM_014419	.	missense SNV	DKKL1:NM_001197301:exon4:c.C433T:p.R145W,DKKL1:NM_001197302:exon5:c.C301T:p.R101W,DKKL1:NM_014419:exon5:c.C526T:p.R176W	ENST00000599433.1,ENST00000221498.2,ENST00000594268.1	.	19q13.33	.	.	.	.	.	rs141628956	.	.	0.0332226	0.0288	0.00599042	7.7e-05	0.0027	0.0350	0.0245023255743	0.0264423133413	0.001,D	0.938,D	0.999,D	1,N	0.022484,N	1.545,L	2.39,T	8.7572	1.218	0.834	6.139562,28.4	2.94	AC=3;AN=6;BQB=0.292093;DP4=57,23,45,18;DP=192;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.799088;SF=6,20,23;SGB=-0.692067;VDB=0.46962	GT:DP:DV:PL	.	.	.	.	.	.	0/1:53:20:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:14:255,0,255	.	.	0/1:62:29:255,0,255	.	C	T	0	3	Dickkopf-like 1	.	.	.	10570958	ANATOMICAL_STRUCTURE_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	.	.	.	.	.	
H	19	49965131	rs76844851	G	C	218.06	PASS	ALDH16A1	aldehyde dehydrogenase 16 family, member A1	splicing	NM_153329	NM_153329:exon7:c.760-10G>C	.	.	ENST00000455361.2,ENST00000433981.2,ENST00000293350.4,ENST00000540132.1	CpG: 37	19q13.33	.	.	.	.	.	rs76844851	.	.	0.0149502	0.0149	0.00299521	.	0.0018	0.0255	0.0130168413476	0.0132211777644	.	.	.	.	.	.	.	.	-0.029	-0.178	.	.	AC=18,4;AN=32;BQB=0.9914;DP4=163,141,314,279;DP=1178;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.931099;SF=1,2,3,6,7,8,10,11,14,15,17,18,20,21,23,24;SGB=-0.693147;VDB=0.383478	GT:DP:DV:PL	.	1/1:48:48:255,144,0,.,.,.	0/1:56:26:255,0,255,.,.,.	0/1:71:24:255,0,255,.,.,.	.	.	0/1:57:26:255,0,255,.,.,.	0/1:59:27:255,0,255,.,.,.	0/2:59:26:255,.,.,0,.,255	.	1/2:58:58:255,255,255,255,0,255	2/1:46:46:255,255,255,255,0,255	.	.	0/1:66:35:255,0,255,.,.,.	0/1:62:33:255,0,255,.,.,.	.	0/1:40:18:255,0,255,.,.,.	0/1:51:29:255,0,255,.,.,.	.	1/1:72:72:255,217,0,.,.,.	1/2:64:64:255,255,255,255,0,255	.	0/1:46:19:255,0,255,.,.,.	1/1:42:42:255,126,0,.,.,.	G	A,C	3	13	Aldehyde dehydrogenase 16 family, member A1	.	.	.	19184135	.	.	.	.	.	.	.	
L	19	50209255	rs200765794	C	T	222	PASS	CPT1C	carnitine palmitoyltransferase 1C	exonic	NM_001136052,NM_001199752,NM_001199753,NM_152359	.	synonymous SNV	CPT1C:NM_152359:exon10:c.C1054T:p.L352L,CPT1C:NM_001136052:exon11:c.C1021T:p.L341L,CPT1C:NM_001199752:exon11:c.C1054T:p.L352L,CPT1C:NM_001199753:exon11:c.C1054T:p.L352L	ENST00000405931.2,ENST00000354199.5,ENST00000598293.1,ENST00000323446.5,ENST00000392518.4	.	19q13.33	.	.	.	.	.	rs200765794	.	.	0.00166113	0.001	0.000199681	.	1.65e-05	0.0002	0.00166113	0.00166113	.	.	.	.	.	.	.	.	0.452	0.901	2.143857,17.14	2.15	AC=1;AN=2;BQB=0.662347;DP4=14,5,17,9;DP=56;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.316589;SF=20;SGB=-0.692976;VDB=0.0799748	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:26:255,0,255	.	.	.	.	C	T	0	1	?Spastic paraplegia 73, autosomal dominant, 616282 (3)	.	.	.	25751282|23973755|21592121|19224198|16651524|12376098	.	.	.	KEGG_FATTY_ACID_METABOLISM;KEGG_PPAR_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_HNF3BPATHWAY	.	.	
H	19	50549441	rs150885598	G	A	206	PASS	ZNF473	zinc finger protein 473	exonic	NM_001006656,NM_001308424,NM_015428	.	missense SNV	ZNF473:NM_001308424:exon4:c.G1705A:p.E569K,ZNF473:NM_001006656:exon5:c.G1741A:p.E581K,ZNF473:NM_015428:exon5:c.G1741A:p.E581K	ENST00000599410.1,ENST00000601364.1,ENST00000391821.2,ENST00000595661.1,ENST00000445728.3,ENST00000599914.1,ENST00000270617.3	.	19q13.33	.	.	.	.	.	rs150885598	.	.	0.0199336	0.0179	0.00359425	.	0.0008	0.0105	0.00995407656968	0.0168269551683	0.344,T	0.081,B	0.6,P	1,N	0.474870,N	0.69,N	2.28,T	5.8056	-0.135	-1.016	1.206456,11.78	.	AC=2;AN=4;BQB=0.993707;DP4=19,9,15,11;DP=70;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99899;SF=15,20;SGB=-0.691153;VDB=0.70925	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:18:255,0,240	.	.	.	.	0/1:25:8:224,0,255	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_SLBP_DEPENDENT_PROCESSING_OF_REPLICATION_DEPENDENT_HISTONE_PRE_MRNAS;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_MRNA_PROCESSING;REACTOME_PROCESSING_OF_CAPPED_INTRONLESS_PRE_MRNA;REACTOME_TRANSCRIPTION;REACTOME_CLEAVAGE_OF_GROWING_TRANSCRIPT_IN_THE_TERMINATION_REGION_	
L	19	50882354	rs145512629	C	T	208	PASS	NR1H2	nuclear receptor subfamily 1, group H, member 2	exonic	NM_001256647,NM_007121	.	synonymous SNV	NR1H2:NM_001256647:exon6:c.C552T:p.I184I,NR1H2:NM_007121:exon7:c.C843T:p.I281I	ENST00000599105.1,ENST00000253727.5,ENST00000542413.1,ENST00000411902.2,ENST00000593926.1,ENST00000598168.1	.	19q13.33	.	.	.	.	.	rs145512629	.	.	0.00166113	0.001	0.000399361	0.0002	0.0001	0.0015	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-2.548	-2.618	1.466442,13.14	.	AC=1;AN=2;BQB=0.748157;DP4=34,4,19,0;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.839022;SF=20;SGB=-0.69168;VDB=0.38226	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:19:241,0,255	.	.	.	.	C	T	0	1	Nuclear receptor subfamily 1, group H, member 2 (ubiquitously-expressed nuclear receptor)	.	.	.	19520913|19436111|18614014|18238900|17657314|15738425|12193651|11901146|11030331|10968783|9874807|7926814|7782080|7625741	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION	CYTOPLASM;NUCLEUS	.	.	PID_RXR_VDR_PATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
L	19	51051937	rs372480830	C	T	222	PASS	LRRC4B	leucine rich repeat containing 4B	exonic	NM_001080457	.	synonymous SNV	LRRC4B:NM_001080457:exon2:c.G159A:p.P53P	ENST00000389201.3,ENST00000599957.1	CpG: 29	19q13.33	.	.	Score=797;Name=V$MYOGNF1_01	.	.	rs372480830	.	.	0.0166113	0.0119	0.00399361	0.0002	0.0068	0.0290	0.00918836388974	0.0166113	.	.	.	.	.	.	.	.	-0.351	-1.776	2.117062,16.97	.	AC=2;AN=4;BQB=0.719938;DP4=23,22,34,16;DP=126;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.68734;SF=12,20;SGB=-0.693079;VDB=0.502044	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:29:255,0,255	.	.	.	.	.	.	.	0/1:43:21:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	19	51919840	rs71358835	G	A	223.5	PASS	LOC100129083	uncharacterized LOC100129083	exonic	NM_001256795	.	missense SNV	LOC100129083:NM_001256795:exon2:c.G172A:p.A58T	ENST00000526996.1,ENST00000339313.5,ENST00000525998.1,ENST00000442846.3,ENST00000532688.1,ENST00000439889.2,ENST00000353836.5,ENST00000441969.3,ENST00000436984.2,ENST00000356298.5,ENST00000432469.2	.	19q13.41	.	.	.	Score=0.937474;Name=chr19:50461562	.	rs71358835	.	.	0.0697674	0.0714	0.0241613	.	0.0091	0.0400	.	0.0600961211538	.	.	.	.	.	.	.	.	-1.174	-0.733	.	.	AC=5;AN=8;BQB=0.996718;DP4=86,35,131,65;DP=407;HOB=0.5;ICB=1;MQ0F=0;MQ=42;MQB=0.00989261;MQSB=0.990253;RPB=0.51743;SF=12,18,19,20;SGB=-0.693147;VDB=0.918856	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	1/1:66:66:255,199,0	.	.	.	.	.	0/1:87:48:255,0,255	0/1:85:42:255,0,255	0/1:79:40:255,0,255	.	.	.	.	G	A	1	3	.	.	.	.		.	.	.	.	.	.	.	
L	19	51981946	rs75588884	T	C	222	PASS	CEACAM18	carcinoembryonic antigen-related cell adhesion molecule 18	exonic	NM_001278392	.	missense SNV	CEACAM18:NM_001278392:exon1:c.T50C:p.M17T	ENST00000396477.4,ENST00000451626.1	.	19q13.41	.	.	.	.	.	rs75588884	.	.	0.00996678	0.0089	0.0167732	0.0214	0.0244	0.0073	0.00612557595712	0.00996678	0.857,T	0.0,B	0.003,B	1,N	.	-0.66,N	3.84,T	4.8465	0.480	1.352	.	.	AC=2;AN=4;BQB=0.675213;DP4=28,14,19,22;DP=117;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.556178;SF=7,20;SGB=-0.691153;VDB=0.631732	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:43:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:40:23:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	19	52869786	rs147926504	G	A	221.5	PASS	ZNF610	zinc finger protein 610	exonic	NM_001161425,NM_001161426,NM_001161427,NM_173530	.	synonymous SNV	ZNF610:NM_001161427:exon5:c.G1026A:p.P342P,ZNF610:NM_001161425:exon6:c.G1155A:p.P385P,ZNF610:NM_001161426:exon6:c.G1155A:p.P385P,ZNF610:NM_173530:exon6:c.G1155A:p.P385P	ENST00000403906.3,ENST00000601151.1,ENST00000327920.8,ENST00000321287.8	.	19q13.41	.	.	.	.	.	rs147926504	.	.	0.00830565	0.0069	0.00139776	.	0.0015	0.0204	0.00830565	0.0096153921875	.	.	.	.	.	.	.	.	-0.753	-8.063	.	.	AC=2;AN=4;BQB=0.993891;DP4=16,4,26,11;DP=77;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.953096;SF=5,20;SGB=-0.690438;VDB=0.630073	GT:DP:DV:PL	.	.	.	.	.	0/1:29:17:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:28:20:255,0,178	.	.	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	19	53116949	rs113015820	T	C	190.55	PASS	ZNF83	zinc finger protein 83	exonic	NM_001105549,NM_001105550,NM_001105551,NM_001105552,NM_001277945,NM_001277946,NM_001277947,NM_001277948,NM_001277949,NM_001277951,NM_001277952,NM_018300	.	missense SNV	ZNF83:NM_001277951:exon3:c.A869G:p.K290R,ZNF83:NM_018300:exon3:c.A869G:p.K290R,ZNF83:NM_001105552:exon4:c.A869G:p.K290R,ZNF83:NM_001277946:exon4:c.A869G:p.K290R,ZNF83:NM_001105550:exon5:c.A869G:p.K290R,ZNF83:NM_001105551:exon5:c.A869G:p.K290R,ZNF83:NM_001277948:exon5:c.A869G:p.K290R,ZNF83:NM_001277949:exon5:c.A869G:p.K290R,ZNF83:NM_001277952:exon5:c.A869G:p.K290R,ZNF83:NM_001105549:exon6:c.A869G:p.K290R,ZNF83:NM_001277945:exon6:c.A869G:p.K290R,ZNF83:NM_001277947:exon6:c.A869G:p.K290R	ENST00000541777.2,ENST00000545872.1,ENST00000597597.1,ENST00000601257.1,ENST00000600714.1,ENST00000536937.1,ENST00000391789.4,ENST00000594682.2,ENST00000544146.1,ENST00000301096.3	.	19q13.41	.	.	.	.	.	rs113015820	.	.	.	.	.	.	0.0001	0.0011	.	0.00434783	0.017,D	0.092,B	0.425,B	1,P	.	0.61,N	2.11,T	5.8046	0.989	-0.230	.	.	AC=21;AN=36;BQB=0.923928;DP4=286,241,192,146;DP=1081;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.897904;MQSB=0.975228;RPB=0.00107988;SF=0,2,3,5,6,8,9,11,12,13,14,16,17,18,20,22,23,24;SGB=-0.670168;VDB=5.76767e-05	GT:DP:DV:PL	0/1:38:10:232,0,255	.	0/1:41:15:242,0,255	0/1:58:25:255,0,255	.	0/1:44:14:233,0,255	0/1:68:14:164,0,255	.	0/1:59:17:250,0,255	1/1:30:30:255,90,0	.	0/1:52:23:255,0,255	0/1:46:12:175,0,255	0/1:58:20:255,0,255	0/1:45:8:77,0,255	.	0/1:69:24:255,0,255	0/1:39:11:200,0,255	0/1:46:17:216,0,255	.	0/1:49:14:191,0,255	.	1/1:19:19:255,57,0	0/1:64:28:255,0,255	1/1:40:37:255,59,0	T	C	3	15	Zinc finger protein-83	.	.	.	8088807|4040853	.	.	.	.	.	.	.	
H	19	53668470	rs189318604	T	C	222	PASS	ZNF665	zinc finger protein 665	exonic	NM_024733	.	missense SNV	ZNF665:NM_024733:exon4:c.A1273G:p.T425A	ENST00000396424.3,ENST00000600412.1	.	19q13.42	.	.	.	.	.	rs189318604	.	.	0.0116279	0.0109	0.00259585	.	0.0009	0.0124	0.00689126833078	0.0108173020433	0.011,D	0.99,D	0.994,D	0.999869,N	.	0.67,N	1.73,T	6.1766	-0.410	-0.098	2.153786,17.21	.	AC=2;AN=4;BQB=0.400693;DP4=45,29,54,25;DP=219;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.587689;SF=0,20;SGB=-0.693144;VDB=0.538756	GT:DP:DV:PL	0/1:65:39:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:40:255,0,255	.	.	.	.	T	C	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	19	55179120	rs147216101	C	T	133.67	PASS	LILRB4	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	exonic	NM_001278426,NM_001278427,NM_001278428,NM_001278429	.	missense SNV	LILRB4:NM_001278429:exon10:c.C1166T:p.T389M,LILRB4:NM_001278426:exon11:c.C1076T:p.T359M,LILRB4:NM_001278427:exon11:c.C1073T:p.T358M,LILRB4:NM_001278428:exon11:c.C1076T:p.T359M	ENST00000430952.2,ENST00000270452.2,ENST00000391733.3,ENST00000391736.1,ENST00000391734.3	.	19q13.42	.	.	.	.	.	rs147216101	.	.	0.0199336	0.0169	0.00399361	.	0.0014	0.0173	0.0199336	0.0204327165865	0.002,D	0.521,P	0.997,D	1,N	.	1.88,L	6.82,T	4.3278	-0.399	-1.415	1.725036,14.55	.	AC=3;AN=6;BQB=0.950952;DP4=22,2,22,2;DP=63;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=0.742931;MQSB=0.335574;RPB=0.891517;SF=1,14,20;SGB=-0.616816;VDB=0.12166	GT:DP:DV:PL	.	0/1:11:6:155,0,147	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:7:119,0,221	.	.	.	.	.	0/1:21:11:226,0,210	.	.	.	.	C	T	0	3	Leukocyte immunoglobulin-like receptor, subfamily B, member 4	.	.	.	18802077|11875462|9548455|9278324|9151699|9079806	SIGNAL_TRANSDUCTION	.	ANTIGEN_BINDING;RECEPTOR_ACTIVITY	.	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286665	rs199644153	T	A	31.7	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.T419A:p.L140Q	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs199644153	.	.	.	.	.	.	0.0001	0.0001	.	0.1	0.6,T	0.001,B	0.0,B	1,N	.	-1.325,N	5.74,T	2.9817	-2.958	-2.910	.	.	AC=3;AN=6;BQB=0.239216;DP4=158,37,60,16;DP=346;HOB=0.5;ICB=1;MQ0F=0;MQ=46;MQB=7.83974e-11;MQSB=0.985904;RPB=0.0700441;SF=6,20,23;SGB=-0.692562;VDB=0.00384209	GT:DP:DV:PL	.	.	.	.	.	.	0/1:77:22:63,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:101:33:81,0,255	.	.	0/1:93:21:58,0,255	.	T	A	0	3	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286767	rs200746024	G	T	107.21	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.G521T:p.G174V	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs200746024	.	.	0.0182724	0.0218	0.034345	.	0.0024	0.0027	0.0182724	0.0264422930288	0.643,T	0.003,B	0.001,B	1,N	.	-0.24,N	1.92,T	3.2276	-2.404	-2.392	.	.	AC=9;AN=16;BQB=0.391678;DP4=445,205,95,127;DP=1216;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=8.80663e-17;MQSB=0.388463;RPB=0.865278;SF=1,6,11,16,17,20,23,24;SGB=-0.69311;VDB=2.37859e-06	GT:DP:DV:PL	.	0/1:157:31:103,0,255	.	.	.	.	0/1:95:27:162,0,255	.	.	.	.	0/1:133:28:151,0,255	.	.	.	.	0/1:160:30:68,0,255	0/1:66:15:71,0,255	.	.	0/1:124:41:200,0,255	.	.	0/1:114:27:126,0,255	1/1:23:23:255,69,0	G	T	1	7	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286770	rs538559888	C	G	108.44	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.C524G:p.P175R	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs538559888	.	.	0.0166113	0.0208	0.0335463	.	0.0024	0.0027	0.0166113	0.0240384754808	0.372,T	0.003,B	0.001,B	1,N	.	-0.695,N	2.16,T	3.8542	-0.080	-0.573	.	.	AC=9;AN=16;BQB=0.542118;DP4=450,198,91,132;DP=1216;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=1.06914e-16;MQSB=0.322924;RPB=0.763902;SF=1,6,11,16,17,20,23,24;SGB=-0.69311;VDB=4.25577e-07	GT:DP:DV:PL	.	0/1:152:31:114,0,255	.	.	.	.	0/1:95:27:162,0,255	.	.	.	.	0/1:134:28:139,0,255	.	.	.	.	0/1:158:30:71,0,255	0/1:69:15:65,0,255	.	.	0/1:123:41:204,0,255	.	.	0/1:117:28:136,0,255	1/1:23:23:255,69,0	C	G	1	7	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286773	rs551912555	A	G	105.76	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.A527G:p.K176R	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs551912555	.	.	0.00996678	0.0129	0.0285543	.	.	.	0.00996678	0.00996678	0.002,D	0.001,B	0.0,B	1,N	.	0.265,N	1.98,T	3.5402	0.045	0.507	.	.	AC=10;AN=18;BQB=0.417681;DP4=517,228,103,151;DP=1417;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=1.70428e-16;MQSB=0.3056;RPB=0.937496;SF=1,2,6,11,16,17,20,23,24;SGB=-0.69311;VDB=4.50931e-07	GT:DP:DV:PL	.	0/1:145:31:131,0,255	0/1:148:30:62,0,255	.	.	.	0/1:95:27:162,0,255	.	.	.	.	0/1:129:28:162,0,255	.	.	.	.	0/1:154:30:79,0,255	0/1:68:15:68,0,255	.	.	0/1:123:42:206,0,255	.	.	0/1:114:28:142,0,255	1/1:23:23:255,69,0	A	G	1	8	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286774	rs142432377	G	C	110.69	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.G528C:p.K176N	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs142432377	.	.	0.00664452	0.005	0.0201677	.	.	.	0.00664452	0.00664452	0.002,D	0.035,B	0.375,B	1,N	.	1.195,L	1.96,T	4.9247	0.019	-1.768	.	.	AC=9;AN=16;BQB=0.551815;DP4=440,206,90,135;DP=1203;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=9.43048e-17;MQSB=0.524822;RPB=0.969213;SF=1,6,11,16,17,20,23,24;SGB=-0.69311;VDB=3.99939e-07	GT:DP:DV:PL	.	0/1:154:31:109,0,255	.	.	.	.	0/1:93:27:166,0,255	.	.	.	.	0/1:132:28:155,0,255	.	.	.	.	0/1:162:30:59,0,255	0/1:69:15:65,0,255	.	.	0/1:125:43:211,0,255	.	.	0/1:113:28:144,0,255	1/1:23:23:255,69,0	G	C	1	7	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	19	55286775	rs537689412	G	A	109.31	PASS	KIR2DL1	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	exonic	NM_014218	.	missense SNV	KIR2DL1:NM_014218:exon4:c.G529A:p.V177I	ENST00000538269.1,ENST00000336077.6,ENST00000402254.2,ENST00000434419.2,ENST00000396284.2,ENST00000400864.3,ENST00000291633.7,ENST00000541392.1	.	19q13.42	.	.	.	Score=0.93824;Name=chr19_gl000209_random:94401	.	rs537689412	.	.	0.00664452	0.005	0.0201677	.	.	.	0.00664452	0.00664452	0.05,D	0.001,B	0.0,B	1,N	.	0.59,N	1.98,T	4.6908	-0.078	-0.018	.	.	AC=9;AN=16;BQB=0.594032;DP4=442,207,89,135;DP=1206;HOB=0.5;ICB=1;MQ0F=0;MQ=53;MQB=9.43048e-17;MQSB=0.560507;RPB=0.934791;SF=1,6,11,16,17,20,23,24;SGB=-0.69311;VDB=5.01927e-07	GT:DP:DV:PL	.	0/1:154:31:109,0,255	.	.	.	.	0/1:95:27:162,0,255	.	.	.	.	0/1:132:28:155,0,255	.	.	.	.	0/1:161:30:62,0,255	0/1:68:15:68,0,255	.	.	0/1:126:42:201,0,255	.	.	0/1:114:28:142,0,255	1/1:23:23:255,69,0	G	A	1	7	Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	.	.	.	19828694|18668235|17082569|16281939|14976061|11904677|11477395|11323700|10770793|9922396|9529246|9133416|8777725|7749980|7716543|2201309	IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_GRAFT_VERSUS_HOST_DISEASE	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
H	19	57792207	rs771810060	G	A	222	PASS	ZNF460	zinc finger protein 460	splicing	NM_006635	NM_006635:exon1:c.30+3G>A	.	.	ENST00000537645.1,ENST00000360338.3	CpG: 74	19q13.43	.	.	.	.	.	rs771810060	.	.	.	.	.	.	1.719e-05	0.0001	.	.	.	.	.	.	.	.	.	.	0.551	1.663	0.907310,10.12	.	AC=1;AN=2;BQB=0.999952;DP4=24,16,22,17;DP=111;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.836194;SF=20;SGB=-0.693144;VDB=0.0446412	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:39:255,0,255	.	.	.	.	G	A	0	1	Zinc finger protein-272	.	.	.	15004467|7865130	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
L	19	58198972	rs531192088	A	G	222	PASS	ZNF551	zinc finger protein 551	exonic	NM_001270938,NM_138347	.	synonymous SNV	ZNF551:NM_001270938:exon3:c.A1245G:p.G415G,ZNF551:NM_138347:exon3:c.A1329G:p.G443G	ENST00000599221.1,ENST00000282296.5,ENST00000596085.1,ENST00000594684.1,ENST00000356715.4	.	19q13.43	.	.	.	.	.	rs531192088	.	.	0.00332226	0.002	0.000399361	.	5.772e-05	0.0008	0.00332226	0.00332226	0.206,T	.	.	1,D	0.164968,U	.	.	3.7842	-0.184	-2.443	.	.	AC=1;AN=2;BQB=0.998108;DP4=32,11,22,12;DP=101;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.603316;SF=20;SGB=-0.693132;VDB=0.905239	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:34:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	
H	19	58596077	rs201438629	G	C	225	PASS	ZSCAN18	zinc finger and SCAN domain containing 18	exonic	NM_001145542,NM_001145543,NM_001145544,NM_023926	.	missense SNV	ZSCAN18:NM_001145544:exon6:c.C1100G:p.P367R,ZSCAN18:NM_001145542:exon7:c.C1676G:p.P559R,ZSCAN18:NM_001145543:exon7:c.C1508G:p.P503R,ZSCAN18:NM_023926:exon7:c.C1508G:p.P503R	ENST00000600404.1,ENST00000240727.6,ENST00000601144.1,ENST00000421612.2	CpG: 97	19q13.43	.	.	.	.	.	rs201438629	.	.	0.0149502	0.0109	0.00219649	.	0.0032	0.0327	0.00995407479326	0.0120192563702	0.0,D	0.899,P	0.997,D	1,N	0.057993,N	1.32,L	4.25,T	6.7364	0.231	0.994	1.930722,15.78	.	AC=3;AN=4;BQB=0.427366;DP4=26,4,84,39;DP=194;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0984998;SF=20,21;SGB=-0.693079;VDB=0.237098	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:29:255,0,255	1/1:94:94:255,255,0	.	.	.	G	C	1	1	.	.	.	.		.	.	.	.	.	.	.	
H	19	58601570	rs149069414	G	A	225	PASS	ZSCAN18	zinc finger and SCAN domain containing 18	exonic	NM_001145542,NM_001145543,NM_023926	.	missense SNV	ZSCAN18:NM_001145542:exon2:c.C233T:p.T78M,ZSCAN18:NM_001145543:exon2:c.C65T:p.T22M,ZSCAN18:NM_023926:exon2:c.C65T:p.T22M	ENST00000600404.1,ENST00000240727.6,ENST00000601144.1,ENST00000421612.2	.	19q13.43	.	.	.	.	.	rs149069414	.	.	0.013289	0.0099	0.00199681	0.0003	0.0013	0.0164	0.00918834554364	0.013289	0.152,T	0.055,B	0.681,P	1,N	.	0.145,N	4.63,T	3.7999	-0.224	-1.088	.	.	AC=3;AN=4;BQB=0.60484;DP4=28,11,83,42;DP=213;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.333994;SF=20,21;SGB=-0.693146;VDB=0.0100963	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:82:43:255,0,255	1/1:82:82:255,247,0	.	.	.	G	A	1	1	.	.	.	.		.	.	.	.	.	.	.	
L	19	58879380	rs377691079	C	T	222	PASS	ZNF837	zinc finger protein 837	exonic	NM_138466	.	synonymous SNV	ZNF837:NM_138466:exon3:c.G1320A:p.A440A	ENST00000597582.1,ENST00000427624.2	CpG: 227	19q13.43	.	.	.	.	.	rs377691079	.	.	0.00830565	0.0089	0.00199681	.	0.0003	0.0143	0.00142045	0.00721154110577	.	.	.	.	.	.	.	.	0.043	-2.249	1.781259,14.88	.	AC=1;AN=2;BQB=0.943878;DP4=15,7,11,8;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.963022;SF=20;SGB=-0.69168;VDB=0.960895	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:41:19:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	744489	.	C	T	222	PASS	SLC52A3	solute carrier family 52 (riboflavin transporter), member 3	exonic	NM_033409	.	synonymous SNV	SLC52A3:NM_033409:exon3:c.G726A:p.Q242Q	ENST00000381944.3,ENST00000473664.1,ENST00000217254.7	.	20p13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.299	1.287	.	2.87	AC=1;AN=2;BQB=0.850774;DP4=10,13,17,14;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999044;SF=20;SGB=-0.69311;VDB=0.321193	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:31:255,0,255	.	.	.	.	C	T	0	1	Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Fazio-Londe disease, 211500 (3)	.	.	.	21110228|20920669|20463145|20206331|19122205|16122634	.	.	.	.	.	.	.	PM2
L	20	826140	rs141475072	C	A	222	PASS	FAM110A	family with sequence similarity 110, member A	exonic	NM_001042353,NM_001289145,NM_001289146,NM_001289147,NM_031424,NM_207121	.	synonymous SNV	FAM110A:NM_031424:exon1:c.C693A:p.I231I,FAM110A:NM_001042353:exon2:c.C693A:p.I231I,FAM110A:NM_001289146:exon2:c.C693A:p.I231I,FAM110A:NM_001289147:exon2:c.C693A:p.I231I,FAM110A:NM_207121:exon2:c.C693A:p.I231I,FAM110A:NM_001289145:exon3:c.C693A:p.I231I	ENST00000304189.2,ENST00000246100.3,ENST00000381941.3,ENST00000541082.1,ENST00000381939.1	CpG: 79	20p13	.	.	Score=770;Name=V$AHRARNT_02	.	.	rs141475072	.	.	0.0116279	0.0099	0.00219649	0.0002	0.0014	0.0159	0.0122511502297	0.0132211475962	.	.	.	.	.	.	.	.	-0.339	-0.830	2.057951,16.58	.	AC=1;AN=2;BQB=0.57087;DP4=38,14,35,9;DP=134;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.895176;SF=20;SGB=-0.693146;VDB=0.668378	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:96:44:255,0,255	.	.	.	.	C	A	0	1	Family with sequence similarity 110, member A	.	.	.	17499476	.	.	.	.	.	.	.	
H	20	1592152	rs201646968	A	G	116.84	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	missense SNV	SIRPB1:NM_001135844:exon2:c.T284C:p.L95P	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs201646968	.	.	.	.	.	.	.	.	.	.	.	0.013,B	0.0,B	1,N	.	0.43,N	4.28,T	4.014	-3.282	-6.278	.	.	AC=21;AN=24;BQB=0.317276;DP4=39,30,139,0;DP=220;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=2.8574e-07;MQSB=0.0338195;RPB=0.64801;SF=4,5,7,11,12,15,18,19,20,21,22,24;SGB=-0.676189;VDB=0.257671	GT:DP:DV:PL	.	.	.	.	1/1:11:11:166,33,0	1/1:19:19:191,57,0	.	0/1:43:17:141,0,255	.	.	.	1/1:8:8:151,24,0	0/1:20:5:67,0,255	.	.	0/1:38:11:106,0,255	.	.	1/1:8:8:152,24,0	1/1:15:14:141,8,0	1/1:6:6:130,18,0	1/1:23:23:191,69,0	1/1:10:10:168,30,0	.	1/1:7:7:146,21,0	A	G	9	3	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	PM2
H	20	1592153	.	G	A	107.66	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	missense SNV	SIRPB1:NM_001135844:exon2:c.C283T:p.L95F	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006,B	0.0,B	1,N	.	1.08,L	4.3,T	5.4989	-2.819	-2.354	.	.	AC=22;AN=26;BQB=1;DP4=48,54,147,0;DP=258;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=1;MQSB=0.0478003;RPB=1;SF=4,5,6,7,11,12,15,18,19,20,21,22,24;SGB=-0.670168;VDB=0.245704	GT:DP:DV:PL	.	.	.	.	1/1:11:10:133,0,4	1/1:19:19:192,57,0	0/1:38:8:66,0,255	0/1:44:17:141,0,255	.	.	.	1/1:8:8:156,24,0	0/1:21:5:64,0,255	.	.	0/1:38:11:106,0,255	.	.	1/1:8:8:152,24,0	1/1:15:14:141,8,0	1/1:6:6:130,18,0	1/1:24:24:191,72,0	1/1:10:10:168,30,0	.	1/1:7:7:146,21,0	G	A	9	4	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	PM2
H	20	1592154	rs200203262	G	C	109.64	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	missense SNV	SIRPB1:NM_001135844:exon2:c.C282G:p.D94E	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs200203262	.	.	.	.	.	.	.	.	.	.	.	0.183,B	0.153,B	1,N	.	2.705,M	-0.12,T	4.9684	-1.379	-1.594	.	.	AC=22;AN=26;BQB=0.865688;DP4=47,52,147,0;DP=262;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=9.79778e-05;MQSB=0.0648912;RPB=0.594121;SF=4,5,6,7,11,12,15,18,19,20,21,22,24;SGB=-0.676189;VDB=0.252521	GT:DP:DV:PL	.	.	.	.	1/1:11:11:166,33,0	1/1:19:19:191,57,0	0/1:38:8:61,0,255	0/1:42:17:144,0,255	.	.	.	1/1:8:8:156,24,0	0/1:21:5:64,0,255	.	.	0/1:38:11:99,0,255	.	.	1/1:8:8:152,24,0	1/1:15:14:144,8,0	1/1:6:6:130,18,0	1/1:24:24:192,72,0	1/1:9:9:161,27,0	.	1/1:7:7:146,21,0	G	C	9	4	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	PM2
L	20	1592349	rs777055083	G	A	193.28	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	synonymous SNV	SIRPB1:NM_001135844:exon2:c.C87T:p.G29G	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs777055083	.	.	.	.	.	.	0.0085	0.0131	0.178977	0.234783	.	.	.	.	.	.	.	.	-1.097	-0.694	.	.	AC=29;AN=36;BQB=0.712058;DP4=126,103,79,346;DP=858;HOB=0.5;ICB=1;MQ0F=0;MQ=43;MQB=1.82336e-08;MQSB=0;RPB=0.823541;SF=0,2,3,4,5,6,7,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.00802982	GT:DP:DV:PL	1/1:15:15:255,42,0	.	0/1:49:22:255,0,255	1/1:14:14:172,42,0	1/1:19:19:228,57,0	1/1:38:38:255,114,0	0/1:39:11:157,0,255	0/1:62:34:255,0,255	.	.	.	1/1:15:15:178,45,0	0/1:35:17:206,0,255	.	.	0/1:41:22:195,0,255	.	0/1:37:10:92,0,255	1/1:14:14:245,42,0	1/1:38:38:255,114,0	1/1:34:34:255,102,0	1/1:34:34:255,102,0	1/1:11:11:243,33,0	0/1:121:39:255,0,255	1/1:38:38:255,114,0	G	A	11	7	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	
L	20	1592352	rs139138248	A	C	188.39	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	synonymous SNV	SIRPB1:NM_001135844:exon2:c.T84G:p.A28A	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs139138248	.	.	.	.	.	.	0.0100	0.0183	.	0.208696	.	.	.	.	.	.	.	.	-1.136	-2.570	.	.	AC=29;AN=36;BQB=0.782294;DP4=122,106,64,368;DP=825;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=1.1688e-08;MQSB=0.138394;RPB=0.900664;SF=0,2,3,4,5,6,7,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.00038559	GT:DP:DV:PL	1/1:15:15:199,45,0	.	0/1:50:23:255,0,255	1/1:14:14:172,42,0	1/1:19:19:217,57,0	1/1:37:37:255,111,0	0/1:40:11:132,0,255	0/1:61:34:255,0,255	.	.	.	1/1:16:16:175,48,0	0/1:37:19:220,0,255	.	.	0/1:43:23:201,0,255	.	0/1:36:10:98,0,255	1/1:17:17:215,51,0	1/1:40:40:255,120,0	1/1:32:32:255,96,0	1/1:35:35:255,105,0	1/1:13:13:255,39,0	0/1:118:37:255,0,255	1/1:37:37:255,111,0	A	C	11	7	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	
L	20	1592355	rs145146965	T	C	187.89	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	synonymous SNV	SIRPB1:NM_001135844:exon2:c.A81G:p.V27V	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs145146965	.	.	.	.	.	.	0.0103	0.0173	.	0.178261	.	.	.	.	.	.	.	.	0.421	-1.885	.	.	AC=29;AN=36;BQB=0.712058;DP4=119,103,60,373;DP=812;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=1.82336e-08;MQSB=0.0795595;RPB=0.999798;SF=0,2,3,4,5,6,7,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.00038559	GT:DP:DV:PL	1/1:15:15:199,45,0	.	0/1:49:22:255,0,255	1/1:14:14:172,42,0	1/1:19:19:217,57,0	1/1:37:37:255,111,0	0/1:39:11:134,0,255	0/1:61:35:248,0,255	.	.	.	1/1:16:16:176,48,0	0/1:37:19:220,0,255	.	.	0/1:42:23:202,0,255	.	0/1:38:10:94,0,255	1/1:16:16:212,48,0	1/1:39:39:255,117,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	1/1:13:13:255,39,0	0/1:115:39:255,0,255	1/1:37:37:255,111,0	T	C	11	7	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	
L	20	1592358	rs145917713	C	T	187.09	PASS	SIRPB1	signal-regulatory protein beta 1	exonic	NM_001135844	.	synonymous SNV	SIRPB1:NM_001135844:exon2:c.G78A:p.G26G	ENST00000381603.3,ENST00000568365.1,ENST00000564763.1,ENST00000381596.1,ENST00000381605.4,ENST00000279477.7	.	20p13	.	.	.	.	.	rs145917713	.	.	.	.	.	.	0.0111	0.0260	.	0.152174	.	.	.	.	.	.	.	.	-0.598	-0.041	.	.	AC=29;AN=36;BQB=0.814252;DP4=113,105,60,374;DP=804;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=1.61717e-08;MQSB=0.0720194;RPB=0.824612;SF=0,2,3,4,5,6,7,11,12,15,17,18,19,20,21,22,23,24;SGB=-0.688148;VDB=0.00038559	GT:DP:DV:PL	1/1:15:15:196,45,0	.	0/1:49:23:255,0,255	1/1:14:14:166,42,0	1/1:20:20:217,60,0	1/1:37:37:255,111,0	0/1:36:11:141,0,255	0/1:62:35:247,0,255	.	.	.	1/1:16:16:176,48,0	0/1:37:19:220,0,255	.	.	0/1:42:23:202,0,255	.	0/1:36:9:84,0,255	1/1:17:17:212,51,0	1/1:40:40:255,120,0	1/1:33:33:255,99,0	1/1:35:35:255,105,0	1/1:12:12:254,36,0	0/1:114:38:255,0,255	1/1:37:37:255,111,0	C	T	11	7	.	.	.	.		SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_SIGNAL_REGULATORY_PROTEIN_SIRP_FAMILY_INTERACTIONS	
H	20	3652298	rs41453444	A	T	222	PASS	ADAM33	ADAM metallopeptidase domain 33	exonic	NM_001282447,NM_025220,NM_153202	.	missense SNV	ADAM33:NM_001282447:exon16:c.T1835A:p.L612H,ADAM33:NM_025220:exon16:c.T1835A:p.L612H,ADAM33:NM_153202:exon16:c.T1835A:p.L612H	ENST00000350009.2,ENST00000466620.1,ENST00000379861.4,ENST00000356518.2	.	20p13	.	.	.	.	.	rs41453444	.	.	0.0315615	0.0288	0.00579073	.	0.0021	0.0416	0.0183767389587	0.0252404116587	0.0,D	0.974,D	1.0,D	1,N	.	0.455,N	4.71,T	3.793	0.082	1.648	3.161057,22.6	.	AC=3;AN=6;BQB=0.993547;DP4=109,59,93,50;DP=401;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.982378;SF=8,9,20;SGB=-0.693147;VDB=0.077682	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:104:51:255,0,255	0/1:93:39:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:114:53:255,0,255	.	.	.	.	A	T	0	3	A disintegrin and metalloproteinase domain 33	.	.	.	17061022|16773130|12768445|12239266|12110844|11814695	.	.	.	.	.	.	.	
L	20	3677237	rs752033059	G	A	207	PASS	SIGLEC1	sialic acid binding Ig-like lectin 1, sialoadhesin	exonic	NM_023068	.	synonymous SNV	SIGLEC1:NM_023068:exon10:c.C2679T:p.V893V	ENST00000344754.4,ENST00000202578.4	.	20p13	.	.	.	.	.	rs752033059	.	.	.	.	.	.	1.748e-05	0.0002	.	.	.	.	.	.	.	.	.	.	-0.206	0.020	0.916241,10.17	.	AC=1;AN=2;BQB=0.842872;DP4=15,3,20,0;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998292;SF=20;SGB=-0.692067;VDB=0.00902561	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:20:240,0,255	.	.	.	.	G	A	0	1	Sialoadhesin	.	.	.	17934446|16449664|11238599|11133773|10722703|8530048	.	.	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	
L	20	17489594	rs140834233	C	T	222	PASS	BFSP1	beaded filament structural protein 1, filensin	exonic	NM_001161705,NM_001195,NM_001278606,NM_001278607,NM_001278608	.	synonymous SNV	BFSP1:NM_001161705:exon5:c.G300A:p.L100L,BFSP1:NM_001195:exon5:c.G675A:p.L225L,BFSP1:NM_001278607:exon5:c.G342A:p.L114L,BFSP1:NM_001278606:exon6:c.G258A:p.L86L,BFSP1:NM_001278608:exon7:c.G258A:p.L86L	ENST00000536626.1,ENST00000544874.1,ENST00000377868.2,ENST00000377873.3	.	20p12.1	.	.	Score=836;Name=V$AP4_01	.	.	rs140834233	.	.	0.0215947	0.0258	0.00559105	0.0002	0.0036	0.0334	0.0214395073507	0.0204327024038	.	.	.	.	.	.	.	.	2.674	2.527	1.643469,14.09	4.4	AC=1;AN=2;BQB=0.989541;DP4=19,8,16,3;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998446;SF=20;SGB=-0.69168;VDB=0.282371	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:19:255,0,255	.	.	.	.	C	T	0	1	Cataract 33, 611391 (3)	.	.	.	17225135|9787085|9628810|7720401	.	.	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	.	
L	20	20007546	rs117699410	A	G	224	PASS	NAA20	N(alpha)-acetyltransferase 20, NatB catalytic subunit	exonic	NM_016100,NM_181527,NM_181528	.	synonymous SNV	NAA20:NM_016100:exon4:c.A288G:p.L96L,NAA20:NM_181527:exon4:c.A252G:p.L84L,NAA20:NM_181528:exon4:c.A288G:p.L96L	ENST00000334982.4,ENST00000310450.4,ENST00000484480.1,ENST00000398602.2	.	20p11.23	.	.	.	.	.	rs117699410	.	.	0.0166113	0.0198	0.00499201	.	0.0021	0.0178	0.017611023124	0.0144230794471	.	.	.	.	.	.	.	.	0.891	0.829	.	3.05	AC=4;AN=6;BQB=0.960401;DP4=15,9,39,11;DP=106;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.997478;SF=8,10,20;SGB=-0.680642;VDB=0.101691	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:21:12:255,0,247	.	0/1:25:10:255,0,255	.	.	.	.	.	.	.	.	.	1/1:28:28:255,84,0	.	.	.	.	A	G	1	2	N-acetyltransferase 5	.	.	.	18570629|12783868	.	.	.	.	.	.	.	
H	20	30072136	rs199955279	G	A	228	PASS	REM1	RAS (RAD and GEM)-like GTP-binding 1	exonic	NM_014012	.	missense SNV	REM1:NM_014012:exon5:c.G800A:p.R267H	ENST00000201979.2	CpG: 42	20q11.21	.	.	Score=797;Name=V$PAX5_02	.	.	rs199955279	.	.	0.00830565	0.005	0.000998403	.	0.0009	0.0129	0.00830565	0.00830565	0.001,D	0.869,P	0.999,D	0.999561,D	0.000002,D	1.59,L	-0.31,T	17.5014	2.585	4.473	6.907402,33	5.02	AC=2;AN=2;DP4=0,0,8,24;DP=43;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.69312;VDB=0.00610213	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:32:32:255,96,0	.	.	.	.	G	A	1	0	Ras (Rad and Gem)-like GTP-binding 1	.	.	.	10831614	.	.	.	.	.	.	.	
M	20	31757102	rs140056672	C	G	228	PASS	BPIFA2	BPI fold containing family A, member 2	exonic	NM_080574	.	missense SNV	BPIFA2:NM_080574:exon2:c.C151G:p.L51V	ENST00000253362.2,ENST00000354932.5	.	20q11.21	.	.	.	.	.	rs140056672	.	.	0.0332226	0.0317	0.00638978	0.0002	0.0023	0.0306	0.0199081218377	0.0332226	0.751,T	0.108,B	0.372,B	1,N	0.292443,N	1.32,L	2.37,T	14.7057	-0.809	-3.438	.	.	AC=2;AN=2;DP4=0,0,13,10;DP=30;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692717;VDB=0.619067	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:23:23:255,69,0	.	.	.	.	C	G	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	20	31761885	rs61734343	G	A	228	PASS	BPIFA2	BPI fold containing family A, member 2	exonic	NM_080574	.	synonymous SNV	BPIFA2:NM_080574:exon4:c.G303A:p.G101G	ENST00000253362.2,ENST00000354932.5	.	20q11.21	.	.	.	.	.	rs61734343	.	.	0.0332226	0.0317	0.00638978	.	0.0023	0.0306	0.0199081218377	0.0332226	.	.	.	.	.	.	.	.	0.154	0.013	.	.	AC=2;AN=2;DP4=0,0,26,4;DP=40;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693097;VDB=0.491526	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:30:30:255,90,0	.	.	.	.	G	A	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	20	31812206	rs112731808	A	G	228	PASS	BPIFA3	BPI fold containing family A, member 3	exonic	NM_178466	.	missense SNV	BPIFA3:NM_178466:exon3:c.A324G:p.I108M	ENST00000375454.3,ENST00000375452.3,ENST00000490499.1	.	20q11.21	.	.	Score=838;Name=V$HAND1E47_01	.	.	rs112731808	.	.	0.0315615	0.0308	0.0197684	0.0154	0.0075	0.0321	0.0214395324655	0.0240384902644	1.0,T	0.001,B	0.0,B	0.996421,D	0.017055,N	-1.83,N	3.52,T	7.0156	0.804	1.446	.	3.41	AC=2;AN=2;DP4=0,0,16,6;DP=30;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.692562;VDB=0.939807	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:22:22:255,66,0	.	.	.	.	A	G	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	20	31814277	rs74640466	C	T	228	PASS	BPIFA3	BPI fold containing family A, member 3	exonic	NM_001042439,NM_178466	.	missense SNV	BPIFA3:NM_001042439:exon4:c.C494T:p.P165L,BPIFA3:NM_178466:exon5:c.C602T:p.P201L	ENST00000375454.3,ENST00000375452.3,ENST00000490499.1	.	20q11.21	.	.	.	.	.	rs74640466	.	.	0.0282392	0.0298	0.0165735	0.0102	0.0053	0.0325	0.0206737874426	0.0216346145433	0.001,D	0.999,D	1.0,D	0.99804,D	0.001065,N	1.935,L	3.66,T	11.4341	2.421	2.957	5.332634,25.8	3.78	AC=2;AN=2;DP4=0,0,12,16;DP=38;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693054;VDB=0.0341424	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:28:28:255,84,0	.	.	.	.	C	T	1	0	.	.	.	.		.	.	.	.	.	.	.	
M	20	44313483	rs145459231	T	C	207	PASS	WFDC10B	WAP four-disulfide core domain 10B	exonic	NM_172006,NM_172131	.	missense SNV	WFDC10B:NM_172131:exon3:c.A256G:p.M86V,WFDC10B:NM_172006:exon4:c.A208G:p.M70V	ENST00000335769.2,ENST00000330523.5	.	20q13.12	.	.	Score=871;Name=V$HNF3B_01	.	.	rs145459231	.	.	0.0332226	0.0298	0.0061901	0.0004	0.0017	0.0216	0.0214394943338	0.0252403919471	0.144,T	0.015,B	0.058,B	1,N	.	.	2.09,T	2.0867	-1.033	-0.845	.	.	AC=3;AN=6;BQB=0.992914;DP4=30,7,39,6;DP=116;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.68813;SF=6,20,22;SGB=-0.688148;VDB=0.629152	GT:DP:DV:PL	.	.	.	.	.	.	0/1:24:15:255,0,211	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:21:255,0,255	.	0/1:21:9:210,0,255	.	.	T	C	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	20	44352696	rs142613680	C	T	214	PASS	SPINT4	serine peptidase inhibitor, Kunitz type 4	exonic	NM_178455	.	missense SNV	SPINT4:NM_178455:exon2:c.C293T:p.P98L	ENST00000279058.3	.	20q13.12	.	.	.	.	.	rs142613680	.	.	0.00830565	0.005	0.00119808	.	0.0004	0.0046	0.007656967366	0.0096153921875	0.0,D	0.008,B	0.191,B	0.990475,N	0.000036,N	.	0.14,T	10.9868	-3.198	-3.648	.	.	AC=1;AN=2;BQB=0.977529;DP4=6,6,3,6;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.950149;SF=20;SGB=-0.662043;VDB=0.505656	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:9:247,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	44418600	rs115439049	G	A	222	PASS	WFDC3	WAP four-disulfide core domain 3	exonic	NM_080614	.	synonymous SNV	WFDC3:NM_080614:exon2:c.C15T:p.C5C	ENST00000481847.1,ENST00000243938.4,ENST00000372630.2,ENST00000372632.2	.	20q13.12	.	.	.	.	.	rs115439049	.	.	0.00332226	0.003	0.000998403	7.7e-05	0.0010	0.0061	0.00612557614089	0.00600962201923	.	.	.	.	.	.	.	.	2.600	3.429	.	4.13	AC=1;AN=2;BQB=0.998287;DP4=8,6,6,4;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.84246;SF=20;SGB=-0.670168;VDB=0.665828	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:10:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	44506208	rs61750778	G	A	222	PASS	ZSWIM3	zinc finger, SWIM-type containing 3	exonic	NM_080752	.	synonymous SNV	ZSWIM3:NM_080752:exon2:c.G1011A:p.E337E	ENST00000255152.2,ENST00000454862.2	.	20q13.12	.	.	.	.	.	rs61750778	.	.	0.013289	0.0159	0.0111821	0.0073	0.0123	0.0185	0.012251112098	0.0180288245192	.	.	.	.	.	.	.	.	0.480	0.451	.	.	AC=1;AN=2;BQB=0.982465;DP4=26,11,17,5;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.744559;SF=20;SGB=-0.692562;VDB=0.238691	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:22:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	20	44506534	rs182585703	C	T	222	PASS	ZSWIM3	zinc finger, SWIM-type containing 3	exonic	NM_080752	.	missense SNV	ZSWIM3:NM_080752:exon2:c.C1337T:p.P446L	ENST00000255152.2,ENST00000454862.2	.	20q13.12	.	.	.	.	.	rs182585703	.	.	0.00332226	0.003	0.000998403	7.7e-05	0.0011	0.0067	0.00612557614089	0.00721153788462	0.246,T	0.005,B	0.014,B	1,N	0.549613,N	1.085,L	1.87,T	9.0825	1.500	1.420	1.554193,13.60	4.46	AC=1;AN=2;BQB=0.401992;DP4=29,5,18,5;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.826114;SF=20;SGB=-0.692717;VDB=0.269029	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:23:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	44511257	rs35972756	G	A	222	PASS	ZSWIM1	zinc finger, SWIM-type containing 1	exonic	NM_080603	.	stopgain	ZSWIM1:NM_080603:exon2:c.G26A:p.W9X	ENST00000372520.1,ENST00000372523.1	.	20q13.12	.	.	.	.	.	rs35972756	.	.	0.013289	0.0159	0.0113818	0.0073	0.0124	0.0186	0.012251112098	0.0180288245192	.	.	.	1,A	.	.	.	1.9686	0.001	-0.105	4.003742,23.6	.	AC=1;AN=2;BQB=0.634032;DP4=16,3,21,11;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.923344;SF=20;SGB=-0.69312;VDB=0.0573739	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:51:32:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	44512082	rs45447691	G	A	222	PASS	ZSWIM1	zinc finger, SWIM-type containing 1	exonic	NM_080603	.	missense SNV	ZSWIM1:NM_080603:exon2:c.G851A:p.R284H	ENST00000372520.1,ENST00000372523.1	.	20q13.12	.	.	.	.	.	rs45447691	.	.	0.013289	0.0159	0.0113818	0.0073	0.0123	0.0186	0.012251112098	0.0180288245192	0.152,T	0.23,B	0.796,P	1,N	0.901040,U	1.79,L	1.85,T	10.6169	-0.164	-2.008	1.280418,12.17	.	AC=1;AN=2;BQB=0.483041;DP4=45,22,32,32;DP=176;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.7401;SF=20;SGB=-0.693147;VDB=0.0104502	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:131:64:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	20	46295000	rs73624692	T	C	105.35	PASS	SULF2	sulfatase 2	splicing	NM_001161841,NM_018837,NM_198596	NM_001161841:exon12:c.1805+4A>G;NM_018837:exon12:c.1805+4A>G;NM_198596:exon12:c.1805+4A>G	.	.	ENST00000361612.4,ENST00000484875.1,ENST00000467815.1,ENST00000359930.4	.	20q13.12	.	.	.	.	.	rs73624692	.	.	.	.	.	0.0003	0.0032	0.0160	.	0.00434783	.	.	.	.	.	.	.	.	1.757	3.009	1.496754,13.30	3.87	AC=6;AN=12;BQB=0.615737;DP4=170,45,28,27;DP=401;HOB=0.5;ICB=1;MQ0F=0;MQ=54;MQB=0.832232;MQSB=0.659199;RPB=0.257323;SF=6,8,10,14,20,24;SGB=-0.616816;VDB=0.0539735	GT:DP:DV:PL	.	.	.	.	.	.	0/1:40:6:108,0,255	.	0/1:38:11:171,0,255	.	0/1:40:10:192,0,255	.	.	.	0/1:45:6:70,0,255	.	.	.	.	.	0/1:44:8:100,0,255	.	.	.	0/1:63:14:203,0,255	T	C	0	6	Sulfatase 2	.	.	.	16192265|12368295|10574462	.	CELL_SURFACE	ARYLSULFATASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;SULFURIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	.	
L	20	49232593	rs778033390	A	T	196	PASS	FAM65C	family with sequence similarity 65, member C	exonic	NM_001290268,NM_080829	.	synonymous SNV	FAM65C:NM_001290268:exon4:c.T294A:p.A98A,FAM65C:NM_080829:exon4:c.T282A:p.A94A	ENST00000535356.1,ENST00000327979.2,ENST00000045083.2	.	20q13.13	.	.	.	.	.	rs778033390	.	.	.	.	.	.	4.37e-05	0.0004	.	.	.	.	.	.	.	.	.	.	-0.468	-3.012	.	.	AC=1;AN=2;BQB=0.834008;DP4=11,6,9,1;DP=38;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.147014;SF=20;SGB=-0.670168;VDB=0.150505	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:10:229,0,255	.	.	.	.	A	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	51802199	rs187353552	G	A	222	PASS	TSHZ2	teashirt zinc finger homeobox 2	exonic	NM_001193421	.	synonymous SNV	TSHZ2:NM_001193421:exon1:c.G15A:p.A5A	ENST00000329613.6,ENST00000603338.2,ENST00000371497.5	.	20q13.2	.	.	.	.	.	rs187353552	.	.	0.00166113	0.001	0.000199681	.	0.0004	0	0.00142045	0.00166113	.	.	.	.	.	.	.	.	-1.888	-0.401	.	.	AC=1;AN=2;BQB=0.130732;DP4=17,0,15,1;DP=51;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.503947;SF=20;SGB=-0.689466;VDB=0.849155	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:16:255,0,255	.	.	.	.	G	A	0	1	Teashirt zinc finger homeobox 2	.	.	.	19745106	.	.	.	.	.	.	.	
L	20	51871983	rs138935171	C	T	222	PASS	TSHZ2	teashirt zinc finger homeobox 2	exonic	NM_001193421,NM_173485	.	synonymous SNV	TSHZ2:NM_001193421:exon2:c.C1977T:p.S659S,TSHZ2:NM_173485:exon2:c.C1986T:p.S662S	ENST00000329613.6,ENST00000603338.2,ENST00000371497.5	.	20q13.2	.	.	.	.	.	rs138935171	.	.	0.00498339	0.006	0.00119808	.	0.0006	0.0068	0.0045941793415	0.00480769432692	.	.	.	.	.	.	.	.	-2.427	-1.548	.	.	AC=1;AN=2;BQB=0.969784;DP4=20,13,20,10;DP=85;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.814844;SF=20;SGB=-0.693097;VDB=0.639176	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:30:255,0,255	.	.	.	.	C	T	0	1	Teashirt zinc finger homeobox 2	.	.	.	19745106	.	.	.	.	.	.	.	
L	20	52570229	rs3746788	T	C	222	PASS	BCAS1	breast carcinoma amplified sequence 1	exonic	NM_001316361,NM_003657	.	synonymous SNV	BCAS1:NM_001316361:exon9:c.A1188G:p.S396S,BCAS1:NM_003657:exon11:c.A1422G:p.S474S	ENST00000371435.2,ENST00000371440.3,ENST00000434986.2,ENST00000395961.3	.	20q13.2	.	.	.	.	.	rs3746788	.	.	0.0199336	0.0317	0.0109824	0.0004	0.0059	0.0285	0.0153139369066	0.015625033774	.	.	.	0.999997,N	.	.	.	11.9507	-2.649	-3.102	.	.	AC=5;AN=10;BQB=0.937794;DP4=56,55,59,74;DP=333;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.937794;SF=7,16,20,23,24;SGB=-0.69168;VDB=0.230246	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:48:19:255,0,255	.	.	.	.	.	.	.	.	0/1:48:30:255,0,255	.	.	.	0/1:43:22:255,0,255	.	.	0/1:54:32:255,0,255	0/1:51:30:255,0,255	T	C	0	5	Breast carcinoma amplified sequence	.	.	.	17918747|9671742	.	.	.	.	.	.	.	
H	20	55093178	rs185266382	C	T	222	PASS	RTFDC1	replication termination factor 2 domain containing 1	exonic	NM_001283035,NM_001283036,NM_016407	.	missense SNV	RTFDC1:NM_001283036:exon9:c.C775T:p.P259S,RTFDC1:NM_016407:exon9:c.C778T:p.P260S,RTFDC1:NM_001283035:exon10:c.C868T:p.P290S	ENST00000395881.3,ENST00000243913.4,ENST00000481560.1,ENST00000357348.5,ENST00000023939.4	.	20q13.31	.	.	.	.	.	rs185266382	.	.	0.00332226	0.003	0.000599042	.	0.0004	0.0060	0.00382848235835	0.0036057709375	0.35,T	0.005,B	0.001,B	0.999995,D	0.029467,N	0.55,N	1.67,T	9.2537	-0.448	-0.299	.	.	AC=2;AN=4;BQB=0.748439;DP4=21,14,24,13;DP=94;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.678077;SF=20,22;SGB=-0.692717;VDB=0.117151	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:49:23:255,0,255	.	0/1:23:14:255,0,243	.	.	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
M	20	58342372	rs201007890	G	A	222	PASS	PHACTR3	phosphatase and actin regulator 3	exonic	NM_001199505,NM_001199506,NM_001281507,NM_080672,NM_183244	.	missense SNV	PHACTR3:NM_001199505:exon5:c.G664A:p.V222M,PHACTR3:NM_001199506:exon5:c.G550A:p.V184M,PHACTR3:NM_001281507:exon5:c.G550A:p.V184M,PHACTR3:NM_080672:exon5:c.G673A:p.V225M,PHACTR3:NM_183244:exon5:c.G550A:p.V184M	ENST00000361300.4,ENST00000371015.1,ENST00000541461.1,ENST00000355648.4,ENST00000395639.4,ENST00000359926.3,ENST00000395636.2	.	20q13.32	.	.	Score=754;Name=V$TAXCREB_02	.	.	rs201007890	.	.	0.00166113	0.001	0.000199681	.	0.0002	0.0022	0.00166113	0.00166113	0.184,T	0.003,B	0.005,B	1,N	0.000976,N	0.41,N	1.91,T	2.624	-1.440	-0.953	.	.	AC=1;AN=2;BQB=0.762128;DP4=5,13,10,14;DP=58;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.855276;SF=20;SGB=-0.692831;VDB=0.27062	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:24:255,0,255	.	.	.	.	G	A	0	1	Phosphatase and actin regulator 3	.	.	.	15107502|12925532	.	.	.	.	.	.	.	
H	20	58558000	rs138324710	G	A	92	PASS	CDH26	cadherin 26	exonic	NM_177980	.	missense SNV	CDH26:NM_177980:exon5:c.G416A:p.R139H	ENST00000348616.4,ENST00000244047.5	.	20q13.33	.	.	.	.	.	rs138324710	.	.	0.00664452	0.0069	0.00479233	0.0004	0.0050	0.0084	0.006125576049	0.00600961771635	0.105,T	0.224,B	0.717,P	1,N	0.165645,N	2.115,M	0.11,T	2.1801	-0.126	-0.182	.	.	AC=1;AN=2;BQB=0.395661;DP4=17,1,7,0;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.768176;SF=20;SGB=-0.636426;VDB=0.790074	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:7:126,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	20	60893570	rs148927246	G	A	222	PASS	LAMA5	laminin, alpha 5	exonic	NM_005560	.	synonymous SNV	LAMA5:NM_005560:exon53:c.C7179T:p.D2393D	ENST00000252999.3	.	20q13.33	.	.	.	.	.	rs148927246	.	.	0.0149502	0.0258	0.0061901	0.0005	0.0017	0.0182	0.00918837506891	0.0168269391827	.	.	.	.	.	.	.	.	-0.121	-0.127	.	.	AC=3;AN=6;BQB=0.887523;DP4=99,25,104,18;DP=349;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.563274;SF=13,14,20;SGB=-0.693146;VDB=0.209201	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:89:43:255,0,255	0/1:81:35:255,0,255	.	.	.	.	.	0/1:76:44:255,0,255	.	.	.	.	G	A	0	3	Laminin, alpha-5	.	.	.	19396173|18676816|12743034|11572484|9628581|9271224|7499364	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN4_PATHWAY;PID_SYNDECAN_1_PATHWAY;PID_A6B1_A6B4_INTEGRIN_PATHWAY	.	REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS	
H	20	61442929	rs144253683	A	G	222	PASS	OGFR	opioid growth factor receptor	exonic	NM_007346	.	missense SNV	OGFR:NM_007346:exon6:c.A581G:p.Q194R	ENST00000290291.6,ENST00000370461.1	CpG: 18	20q13.33	.	.	.	.	.	rs144253683	.	.	0.0299003	0.0258	0.00519169	.	0.0031	0.0398	0.0237365805513	0.0264422831731	0.082,T	0.602,P	0.955,P	0.996832,N	0.432807,N	1.7,L	0.91,T	13.0234	1.826	2.565	1.008105,10.71	4.86	AC=3;AN=6;BQB=0.996378;DP4=59,38,60,25;DP=252;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.80795;SF=4,9,20;SGB=-0.692717;VDB=0.000628065	GT:DP:DV:PL	.	.	.	.	0/1:51:23:255,0,255	.	.	.	.	0/1:52:28:255,0,255	.	.	.	.	.	.	.	.	.	.	0/1:79:34:255,0,255	.	.	.	.	A	G	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	20	62044847	rs61737409	G	A	222	PASS	KCNQ2	potassium channel, voltage gated KQT-like subfamily Q, member 2	exonic	NM_004518,NM_172106,NM_172107,NM_172108	.	synonymous SNV	KCNQ2:NM_004518:exon13:c.C1635T:p.A545A,KCNQ2:NM_172106:exon14:c.C1665T:p.A555A,KCNQ2:NM_172108:exon14:c.C1626T:p.A542A,KCNQ2:NM_172107:exon15:c.C1719T:p.A573A	ENST00000360480.3,ENST00000344462.4,ENST00000359125.2,ENST00000370224.1,ENST00000357249.2,ENST00000359689.1,ENST00000354587.3	.	20q13.33	.	.	.	.	.	rs61737409	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000117342.5;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.038206	0.0327	0.0101837	0.0032	0.0074	0.0495	0.0298621984686	0.0396634867788	.	.	.	.	.	.	.	.	-3.154	-5.695	1.376596,12.67	.	AC=5;AN=10;BQB=0.495866;DP4=115,77,110,59;DP=446;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.581754;SF=0,2,17,20,21;SGB=-0.693097;VDB=0.653754	GT:DP:DV:PL	0/1:53:30:255,0,255	.	0/1:73:33:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:55:28:255,0,255	.	.	0/1:64:28:255,0,255	0/1:116:50:255,0,255	.	.	.	G	A	0	5	Seizures, benign neonatal, 1, 121200 (3); Myokymia, 121200 (3); Epileptic encephalopathy, early infantile, 7, 613720 (3)	.	.	.	23621294|22926866|22275249|17872363|17675531|16966552|16235065|15249611|12742592|12700166|12670425|11572947|11175290|10781098|10323247|9836639|9677360|9430594|9425895|7980108	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;METAL_ION_TRANSPORT;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NEURONAL_SYSTEM;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS;REACTOME_VOLTAGE_GATED_POTASSIUM_CHANNELS;REACTOME_POTASSIUM_CHANNELS	BP6
H	20	62326159	rs115303435	G	A	222	PASS	RTEL1	regulator of telomere elongation helicase 1	exonic	NM_001283009,NM_001283010,NM_016434,NM_032957	.	missense SNV	RTEL1:NM_001283010:exon31:c.G2506A:p.A836T,RTEL1:NM_001283009:exon32:c.G3175A:p.A1059T,RTEL1:NM_016434:exon32:c.G3175A:p.A1059T,RTEL1:NM_032957:exon32:c.G3247A:p.A1083T	ENST00000482936.1,ENST00000318100.4,ENST00000360203.5,ENST00000370018.3,ENST00000508582.2,ENST00000370003.1	.	20q13.33	.	.	.	.	.	rs115303435	.	.	0.0299003	0.0367	0.00778754	0.0002	0.0031	0.0386	0.0306278565084	0.0252403673077	0.1,T	0.191,B	0.88,P	1,N	0.489440,N	1.15,L	-1.56,D	7.5827	0.090	0.010	1.399868,12.79	.	AC=2;AN=4;BQB=0.831587;DP4=63,15,71,13;DP=215;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.300695;SF=17,20;SGB=-0.693097;VDB=0.317779	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:57:30:255,0,255	.	.	0/1:105:54:255,0,255	.	.	.	.	G	A	0	2	Dyskeratosis congenita, autosomal recessive 5, 615190 (3); Dyskeratosis congenita, autosomal dominant 4, 615190 (3); Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)	.	.	.	25848748|25607374|24115439|23959892|23591994|23453664|23329068|20203049|19461895|15210109|10655513|9671732	.	.	.	.	.	.	.	
L	21	11038722	rs10433074	C	A	174.08	PASS	BAGE2,BAGE3,BAGE5,BAGE4	B melanoma antigen family, member 4	splicing	NM_181704,NM_182481,NM_182482,NM_182484	NM_181704:exon6:c.1273+6G>T;NM_182481:exon6:c.1268+6G>T;NM_182482:exon6:c.1268+6G>T;NM_182484:exon6:c.1272+6G>T	.	.	ENST00000470054.1	.	21p11.1	.	.	Score=857;Name=V$SREBP1_02	Score=0.965035;Name=chr7:151901419	.	rs10433074	.	.	.	.	.	.	.	.	0.15483	0.252174	.	.	.	.	.	.	.	.	1.318	-1.312	1.870459,15.41	.	AC=25;AN=50;BQB=0.978919;DP4=224,6,399,29;DP=814;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=0.373354;MQSB=0.807846;RPB=0.108961;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.142881	GT:DP:DV:PL	0/1:19:11:157,0,133	0/1:21:16:255,0,77	0/1:15:12:239,0,52	0/1:28:20:223,0,103	0/1:32:17:212,0,198	0/1:20:10:163,0,152	0/1:28:17:210,0,143	0/1:23:12:196,0,192	0/1:16:11:180,0,124	0/1:27:16:231,0,144	0/1:23:15:246,0,144	0/1:43:28:255,0,176	0/1:19:8:126,0,178	0/1:18:13:235,0,93	0/1:22:16:183,0,118	0/1:36:23:218,0,163	0/1:21:15:236,0,163	0/1:31:20:233,0,134	0/1:40:25:165,0,215	0/1:35:22:172,0,169	0/1:37:30:236,0,83	0/1:35:29:255,0,56	0/1:18:9:138,0,120	0/1:21:14:232,0,154	0/1:30:19:196,0,162	C	A	0	25	.	.	.	.		.	.	.	.	.	.	.	
L	21	15882622	rs118173592	T	C	222.43	PASS	SAMSN1	SAM domain, SH3 domain and nuclear localization signals 1	splicing	NM_001256370,NM_001286523,NM_022136	NM_001256370:exon6:c.765+9A>G;NM_001286523:exon6:c.354+9A>G;NM_022136:exon5:c.561+9A>G	.	.	ENST00000400564.1,ENST00000400566.1,ENST00000285670.2	.	21q11.2	.	.	Score=787;Name=V$GFI1_01	.	.	rs118173592	.	.	0.0581395	0.0546	0.0111821	7.7e-05	0.0031	0.0407	0.0390505346095	0.0528845805288	.	.	.	.	.	.	.	.	-0.078	-0.005	1.817611,15.09	.	AC=8;AN=14;BQB=0.680712;DP4=92,32,103,32;DP=357;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.953977;SF=6,9,12,13,15,20,21;SGB=-0.692067;VDB=0.406539	GT:DP:DV:PL	.	.	.	.	.	.	0/1:38:20:255,0,255	.	.	0/1:29:12:252,0,255	.	.	1/1:24:24:255,72,0	0/1:34:15:255,0,255	.	0/1:41:22:255,0,255	.	.	.	.	0/1:45:20:255,0,255	0/1:48:22:255,0,255	.	.	.	T	C	1	6	SAM domain, SH3 domain, and nuclear localization signals 1	.	.	.	15381729|11536050|9140409	.	.	.	.	.	.	.	
L	21	22804462	.	A	T	222	PASS	NCAM2	neural cell adhesion molecule 2	exonic	NM_004540	.	synonymous SNV	NCAM2:NM_004540:exon12:c.A1515T:p.I505I	ENST00000400546.1,ENST00000284894.7	.	21q21.1	.	.	Score=865;Name=V$ZID_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841	0.569	.	.	AC=1;AN=2;BQB=0.495036;DP4=13,3,8,7;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995129;SF=20;SGB=-0.688148;VDB=0.101078	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:15:255,0,255	.	.	.	.	A	T	0	1	Cell adhesion molecule, neural, 2	.	.	.	16840779|9226371	CELL_CELL_ADHESION	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_PRION_DISEASES	.	.	.	PM2
H	21	34860860	.	G	A	228	PASS	DNAJC28	DnaJ (Hsp40) homolog, subfamily C, member 28	exonic	NM_001040192,NM_017833	.	missense SNV	DNAJC28:NM_001040192:exon2:c.C841T:p.L281F,DNAJC28:NM_017833:exon2:c.C841T:p.L281F	ENST00000314399.3,ENST00000381947.3,ENST00000402202.1	.	21q22.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049,D	0.999,D	1.0,D	0.999256,D	0.000000,D	1.86,L	.	19.1662	2.636	7.152	4.352527,24.1	5.58	AC=2;AN=2;DP4=0,0,16,11;DP=35;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693021;VDB=0.120932	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:27:27:255,81,0	.	.	.	.	G	A	1	0	.	.	.	.		.	.	.	.	.	.	.	PM2
H	21	35334666	rs766424	C	T	228	PASS	LINC00649	long intergenic non-protein coding RNA 649	exonic	NM_001288961	.	missense SNV	LINC00649:NM_001288961:exon2:c.C377T:p.S126F	ENST00000381181.1,ENST00000597626.1,ENST00000600155.1,ENST00000400353.2,ENST00000595747.1,ENST00000594370.1,ENST00000596365.1,ENST00000598119.1,ENST00000593977.1,ENST00000427447.1,ENST00000594752.1	.	21q22.11	.	.	.	.	.	rs766424	.	.	.	.	.	.	.	.	.	0.626087	.	.	.	.	.	.	.	.	-0.935	-1.137	.	.	AC=50;AN=50;DP4=0,0,513,641;DP=1559;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=0.177117	GT:DP:DV:PL	1/1:37:37:255,111,0	1/1:52:52:255,157,0	1/1:46:46:255,138,0	1/1:52:52:255,157,0	1/1:40:40:255,120,0	1/1:56:56:255,169,0	1/1:56:56:255,169,0	1/1:48:48:255,144,0	1/1:41:41:255,123,0	1/1:35:35:255,105,0	1/1:50:50:255,151,0	1/1:38:38:255,114,0	1/1:37:37:255,111,0	1/1:51:51:255,154,0	1/1:42:42:255,126,0	1/1:53:53:255,160,0	1/1:48:48:255,144,0	1/1:38:38:255,114,0	1/1:50:50:255,151,0	1/1:60:60:255,181,0	1/1:40:40:255,120,0	1/1:69:69:255,208,0	1/1:18:18:255,54,0	1/1:55:55:255,166,0	1/1:42:42:255,126,0	C	T	25	0	.	.	.	.		.	.	.	.	.	.	.	
L	21	41142937	.	C	A	181	PASS	IGSF5	immunoglobulin superfamily, member 5	exonic	NM_001080444	.	synonymous SNV	IGSF5:NM_001080444:exon4:c.C513A:p.L171L	ENST00000380588.4,ENST00000479378.1	.	21q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.499	0.843	1.394739,12.76	3.21	AC=1;AN=2;BQB=0.995381;DP4=5,4,6,2;DP=21;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.82234;SF=20;SGB=-0.651104;VDB=0.322974	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:17:8:214,0,246	.	.	.	.	C	A	0	1	Junctional adhesion molecule 4	.	.	.	12773569	.	.	.	KEGG_TIGHT_JUNCTION;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	.	.	.	PM2
L	21	41465748	rs41445251	G	A	222	PASS	DSCAM	Down syndrome cell adhesion molecule	exonic	NM_001271534,NM_001389	.	synonymous SNV	DSCAM:NM_001271534:exon21:c.C3750T:p.N1250N,DSCAM:NM_001389:exon21:c.C3750T:p.N1250N	ENST00000400454.1	.	21q22.2	.	.	.	.	.	rs41445251	.	.	0.0215947	0.0218	0.0101837	0.0005	0.0054	0.0251	0.0137825478407	0.018028856851	.	.	.	.	.	.	.	.	1.065	2.880	.	3.81	AC=1;AN=2;BQB=0.657608;DP4=12,6,14,7;DP=54;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.488329;SF=20;SGB=-0.692352;VDB=0.0204953	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:39:21:255,0,255	.	.	.	.	G	A	0	1	Down syndrome cell adhesion molecule	.	.	.	24831526|19794492|18585357|18216855|18216854|17851526|17721508|11280955|10892653|9426258	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	PID_ERA_GENOMIC_PATHWAY;PID_HNF3APATHWAY	.	REACTOME_CELL_CELL_COMMUNICATION;REACTOME_DSCAM_INTERACTIONS	
H	21	43254638	rs146395573	C	T	222	PASS	PRDM15	PR domain containing 15	exonic	NM_001282934	.	missense SNV	PRDM15:NM_001282934:exon12:c.G1513A:p.G505S	ENST00000422911.1,ENST00000269844.3,ENST00000447207.2,ENST00000398548.1,ENST00000538201.1	.	21q22.3	.	.	.	.	.	rs146395573	.	.	0.0249169	0.0248	0.00758786	.	0.0048	0.0227	0.0227273	0.0312499721154	0.0,D	0.0,B	0.002,B	1,N	.	.	3.1,T	3.3931	0.063	-0.181	2.147934,17.17	.	AC=2;AN=4;BQB=0.998511;DP4=39,37,51,38;DP=237;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.543334;SF=11,20;SGB=-0.693147;VDB=3.91992e-07	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/1:88:49:255,0,255	.	.	.	.	.	.	.	.	0/1:77:40:255,0,255	.	.	.	.	C	T	0	2	.	.	.	.		.	.	.	.	PID_ERA_GENOMIC_PATHWAY;PID_HNF3APATHWAY	.	.	
L	21	43539216	rs114180583	C	T	122	PASS	UMODL1	uromodulin-like 1	splicing	NM_001004416,NM_001199527,NM_001199528,NM_173568	NM_001004416:exon15:c.2476-5C>T;NM_001199527:exon14:c.2644-5C>T;NM_001199528:exon15:c.2260-5C>T;NM_173568:exon14:c.2860-5C>T	.	.	ENST00000408989.2,ENST00000408910.2,ENST00000400424.2,ENST00000400427.1	.	21q22.3	.	.	.	.	.	rs114180583	.	.	0.00830565	0.0129	0.0189696	0.0157	0.0136	0.0091	0.00830565	0.00721154110577	.	.	.	.	.	.	.	.	-0.946	-1.933	.	.	AC=1;AN=2;BQB=0.924723;DP4=10,0,12,0;DP=28;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;RPB=0.712002;SF=20;SGB=-0.680642;VDB=0.262612	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:12:155,0,174	.	.	.	.	C	T	0	1	Uromodulin-like 1	.	.	.	15194491	.	.	.	.	.	.	.	
L	21	45970621	rs146792277	G	C	222	PASS	KRTAP10-2	keratin associated protein 10-2	exonic	NM_198693	.	missense SNV	KRTAP10-2:NM_198693:exon1:c.C721G:p.R241G	ENST00000323084.4,ENST00000498210.1,ENST00000397916.1,ENST00000391621.1	.	21q22.3	.	.	.	Score=0.935559;Name=chr21:46047053	.	rs146792277	.	.	0.0465116	0.0407	0.00838658	.	0.0033	0.0394	0.0290964404288	0.0432692081731	0.001,D	0.369,B	0.8,P	1,N	.	2.54,M	4.84,T	9.3015	-0.032	-2.417	2.331700,18.37	.	AC=1;AN=2;BQB=0.730621;DP4=39,4,39,7;DP=113;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.694514;SF=20;SGB=-0.693147;VDB=0.581445	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:89:46:255,0,255	.	.	.	.	G	C	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	21	45993851	rs437778	C	T	159.24	PASS	KRTAP10-4	keratin associated protein 10-4	exonic	NM_198687	.	synonymous SNV	KRTAP10-4:NM_198687:exon1:c.C216T:p.C72C	ENST00000323084.4,ENST00000400374.3	.	21q22.3	.	.	.	Score=0.948393;Name=chr21:46020468	.	rs437778	.	.	.	.	.	.	0.0305	0.0453	.	0.134783	.	.	.	.	.	.	.	.	-0.265	-0.637	.	.	AC=23;AN=36;BQB=0.000856045;DP4=495,203,254,261;DP=1432;HOB=0.5;ICB=1;MQ0F=0;MQ=31;MQB=5.30885e-09;MQSB=0.0616364;RPB=0.00333201;SF=2,4,5,6,7,8,10,12,13,14,15,16,17,19,20,21,22,23;SGB=-0.693139;VDB=0.464706	GT:DP:DV:PL	.	.	1/1:36:36:255,108,0	.	1/1:52:52:255,157,0	0/1:101:34:213,0,255	0/1:57:15:149,0,255	0/1:61:13:139,0,255	1/1:45:44:255,110,0	.	0/1:59:17:190,0,255	.	0/1:78:29:255,0,255	0/1:78:27:237,0,255	0/1:45:14:153,0,255	0/1:102:20:122,0,255	0/1:60:23:255,0,255	0/1:83:19:157,0,255	.	0/1:135:24:74,0,255	1/1:42:42:255,126,0	1/1:82:82:255,247,0	0/1:30:10:136,0,255	0/1:67:14:95,0,255	.	C	T	5	13	.	.	.	.		.	.	.	.	.	.	.	
L	21	46012065	rs587754131	C	T	221	PASS	KRTAP10-6	keratin associated protein 10-6	exonic	NM_198688	.	missense SNV	KRTAP10-6:NM_198688:exon1:c.G301A:p.A101T	ENST00000400368.1,ENST00000323084.4	.	21q22.3	.	.	.	Score=0.950851;Name=chr21:46020514	.	rs587754131	.	.	0.0116279	0.0099	0.00279553	.	0.0005	0.0031	0.0116279	0.0116279	1.0,T	0.0,B	0.0,B	1,N	.	-2.34,N	5.06,T	0.4751	-0.502	-0.553	.	.	AC=2;AN=4;BQB=0.502638;DP4=119,97,40,55;DP=437;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.975035;MQSB=0.0970477;RPB=0.374873;SF=20,24;SGB=-0.693143;VDB=0.0171588	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:113:38:255,0,255	.	.	.	0/1:198:57:255,0,255	C	T	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	21	46012066	rs587648107	A	G	221.5	PASS	KRTAP10-6	keratin associated protein 10-6	exonic	NM_198688	.	synonymous SNV	KRTAP10-6:NM_198688:exon1:c.T300C:p.C100C	ENST00000400368.1,ENST00000323084.4	.	21q22.3	.	.	.	Score=0.950851;Name=chr21:46020514	.	rs587648107	.	.	0.0116279	0.0099	0.00279553	.	0.0007	0.0031	0.0116279	0.0116279	.	.	.	.	.	.	.	.	-0.177	-1.133	.	.	AC=2;AN=4;BQB=0.974869;DP4=120,87,39,57;DP=435;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.999929;MQSB=0.135881;RPB=0.636842;SF=20,24;SGB=-0.693145;VDB=0.0863381	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:114:40:255,0,255	.	.	.	0/1:189:56:255,0,255	A	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
L	21	46012076	rs201467774	A	G	221.5	PASS	KRTAP10-6	keratin associated protein 10-6	exonic	NM_198688	.	missense SNV	KRTAP10-6:NM_198688:exon1:c.T290C:p.L97P	ENST00000400368.1,ENST00000323084.4	.	21q22.3	.	.	Score=767;Name=V$YY1_02	Score=0.950851;Name=chr21:46020514	.	rs201467774	.	.	.	.	.	.	0.0006	0.0030	.	.	1.0,T	0.0,B	0.0,B	0.86118,D	.	-2.71,N	5.61,T	3.0503	0.570	-0.003	.	.	AC=2;AN=4;BQB=0.999893;DP4=110,93,36,62;DP=428;HOB=0.5;ICB=1;MQ0F=0;MQ=32;MQB=0.906007;MQSB=0.188317;RPB=0.49792;SF=20,24;SGB=-0.693146;VDB=0.461571	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:114:43:255,0,255	.	.	.	0/1:187:55:255,0,255	A	G	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	21	46067108	rs781830839	T	G	222	PASS	KRTAP10-11	keratin associated protein 10-11	exonic	NM_198692	.	missense SNV	KRTAP10-11:NM_198692:exon1:c.T733G:p.C245G	ENST00000323084.4,ENST00000334670.8	.	21q22.3	.	.	.	.	.	rs781830839	.	.	.	.	.	.	5.772e-05	0.0007	.	.	0.003,D	0.966,D	0.968,D	1,D	.	3.66,H	4.27,T	9.1744	1.419	1.392	3.776157,23.4	3.89	AC=1;AN=2;BQB=0.995026;DP4=39,41,29,18;DP=158;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.993139;MQSB=0.989884;RPB=0.297136;SF=20;SGB=-0.693147;VDB=0.8549	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:127:47:255,0,255	.	.	.	.	T	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	21	46117123	rs138384392	G	A	222	PASS	KRTAP10-12	keratin associated protein 10-12	exonic	NM_198699	.	missense SNV	KRTAP10-12:NM_198699:exon1:c.G7A:p.V3I	ENST00000323084.4,ENST00000400365.3	.	21q22.3	.	.	.	.	.	rs138384392	.	.	0	.	0.00219649	0.0023	0.0006	0	.	.	0.225,T	0.001,B	0.002,B	0.946664,D	.	1.09,L	6.07,T	2.2494	-0.975	-1.514	.	.	AC=1;AN=2;BQB=0.897234;DP4=49,13,39,14;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=58;MQB=0.61921;MQSB=0.977955;RPB=0.664968;SF=20;SGB=-0.693147;VDB=0.139899	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:115:53:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	21	46330229	rs35903905	C	T	222	PASS	ITGB2	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	exonic	NM_000211,NM_001127491	.	synonymous SNV	ITGB2:NM_000211:exon3:c.G117A:p.S39S,ITGB2:NM_001127491:exon3:c.G117A:p.S39S	ENST00000397857.1,ENST00000355153.4,ENST00000397852.1,ENST00000523126.1,ENST00000302347.5,ENST00000397854.3,ENST00000397846.3,ENST00000397850.2	.	21q22.3	.	.	.	.	.	rs35903905	.	.	0.0249169	0.0278	0.0201677	0.0112	0.0194	0.0343	0.0222052062787	0.0228365057692	.	.	.	.	.	.	.	.	-0.459	-0.037	2.013451,16.30	.	AC=3;AN=6;BQB=0.998621;DP4=80,26,86,20;DP=289;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.2712;SF=1,18,20;SGB=-0.693132;VDB=0.863168	GT:DP:DV:PL	.	0/1:65:34:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:32:255,0,255	.	0/1:84:40:255,0,255	.	.	.	.	C	T	0	3	Leukocyte adhesion deficiency, 116920 (3)	.	.	.	18451854|16172402|15300248|14502280|14500982|12511588|12130787|11812992|10766246|10712675|10548107|9884339|8700894|8101543|7902162|7846055|7686755|7472832|7366657|7310581|7259263|7143170|6718115|6361068|6278303|6237120|6142255|6096477|3900232|3899217|3887182|3594570|3555290|3539202|3528378|3519653|3510003|3278007|3234429|3073708|3028646|2964960|2955527|2880869|2877234|2872730|1972597|1968911|1968909|1694220|1683838|1680882|1674496|1605311|1590804|1555235|1384046|1347532|1346613|1270326|219339|185306|86829|52003	BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_PROTEIN_AMINO_ACID_PHOSPHORYLATION;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;BEHAVIOR;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION;LOCOMOTORY_BEHAVIOR;REGULATION_OF_PHOSPHORYLATION;LEUKOCYTE_CHEMOTAXIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;CELL_CELL_ADHESION;PEPTIDYL_TYROSINE_PHOSPHORYLATION;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;IMMUNE_SYSTEM_PROCESS;PEPTIDYL_TYROSINE_MODIFICATION;RESPONSE_TO_EXTERNAL_STIMULUS;REGULATION_OF_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;CELL_MIGRATION;LEUKOCYTE_MIGRATION	.	KINASE_BINDING;PROTEIN_KINASE_BINDING;ENZYME_BINDING	KEGG_CELL_ADHESION_MOLECULES_CAMS;KEGG_NATURAL_KILLER_CELL_MEDIATED_CYTOTOXICITY;KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON;KEGG_LEISHMANIA_INFECTION;KEGG_VIRAL_MYOCARDITIS	PID_INTEGRIN_CS_PATHWAY;PID_AMB2_NEUTROPHILS_PATHWAY;PID_INTEGRIN2_PATHWAY;PID_UPA_UPAR_PATHWAY;PID_CXCR3PATHWAY;PID_HIF1_TFPATHWAY	BIOCARTA_GRANULOCYTES_PATHWAY;BIOCARTA_LYM_PATHWAY;BIOCARTA_BLYMPHOCYTE_PATHWAY;BIOCARTA_LAIR_PATHWAY;BIOCARTA_CTL_PATHWAY;BIOCARTA_MONOCYTE_PATHWAY;BIOCARTA_TCYTOTOXIC_PATHWAY;BIOCARTA_THELPER_PATHWAY	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_CELL_SURFACE_INTERACTIONS_AT_THE_VASCULAR_WALL;REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS;REACTOME_HEMOSTASIS;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	
L	21	46924383	rs11544970	C	T	225	PASS	COL18A1	collagen, type XVIII, alpha 1	exonic	NM_030582,NM_130444,NM_130445	.	synonymous SNV	COL18A1:NM_030582:exon33:c.C3321T:p.P1107P,COL18A1:NM_130444:exon33:c.C4026T:p.P1342P,COL18A1:NM_130445:exon34:c.C2781T:p.P927P	ENST00000355480.5,ENST00000359759.4,ENST00000400337.2,ENST00000567670.1	.	21q22.3	.	.	.	.	.	rs11544970	.	.	0.0431894	0.0367	0.0275559	0.0189	0.0294	0.0315	0.0313935727412	0.0372596295673	.	.	.	.	.	.	.	.	-1.501	-4.425	.	.	AC=3;AN=4;BQB=0.00807447;DP4=24,11,46,35;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994575;SF=6,20;SGB=-0.693127;VDB=0.490163	GT:DP:DV:PL	.	.	.	.	.	.	0/1:68:33:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:48:48:255,144,0	.	.	.	.	C	T	1	1	Knobloch syndrome, type 1, 267750 (3)	.	.	.	23667181|21937992|20979194|20799329|19160445|17975799|17615292|17546652|15714516|15254016|14695535|12766032|12682293|12415512|11606364|11336704|10942434|9503365|9008168|8838808|8188291|8183894|8183893|7525077|1554013	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;SYSTEM_PROCESS;REGULATION_OF_CELL_PROLIFERATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	.	PID_INTEGRIN1_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_HNF3APATHWAY	.	.	
L	21	46924434	rs28696990	A	C	63.46	PASS	COL18A1	collagen, type XVIII, alpha 1	splicing	NM_030582,NM_130444,NM_130445	NM_030582:exon33:c.3364+8A>C,NM_030582:exon34:c.3365-2A>C;NM_130444:exon33:c.4069+8A>C,NM_130444:exon34:c.4070-2A>C;NM_130445:exon34:c.2824+8A>C,NM_130445:exon35:c.2825-2A>C	.	.	ENST00000355480.5,ENST00000359759.4,ENST00000400337.2,ENST00000567670.1	.	21q22.3	.	.	.	.	Score=23;Name="2831124:GC_rich(Low_complexity)"	rs28696990	.	.	.	.	.	.	0.0094	0	0.00568182	0.00869565	.	.	.	.	.	.	.	.	-0.837	-3.876	.	.	AC=14;AN=28;BQB=0.877913;DP4=57,58,14,49;DP=210;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0497871;SF=1,3,4,5,6,7,9,10,13,15,17,19,20,24;SGB=-0.511536;VDB=0.0279572	GT:DP:DV:PL	.	0/1:11:3:55,0,189	.	0/1:17:5:111,0,252	0/1:14:3:55,0,229	0/1:7:4:111,0,83	0/1:15:5:99,0,202	0/1:18:6:125,0,232	.	0/1:14:6:114,0,190	0/1:14:4:90,0,214	.	.	0/1:25:6:87,0,255	.	0/1:4:2:56,0,56	.	0/1:6:3:77,0,87	.	0/1:12:7:170,0,141	0/1:10:6:136,0,91	.	.	.	0/1:11:3:73,0,166	A	C	0	14	Knobloch syndrome, type 1, 267750 (3)	.	.	.	23667181|21937992|20979194|20799329|19160445|17975799|17615292|17546652|15714516|15254016|14695535|12766032|12682293|12415512|11606364|11336704|10942434|9503365|9008168|8838808|8188291|8183894|8183893|7525077|1554013	SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;NEGATIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;SYSTEM_PROCESS;REGULATION_OF_CELL_PROLIFERATION	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	.	PID_INTEGRIN1_PATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_HNF3APATHWAY	.	.	
H	21	47957354	rs200136063	C	G	222	PASS	DIP2A	disco-interacting protein 2 homolog A	splicing	NM_001146115,NM_001146116,NM_015151,NM_206889,NM_206890,NM_206891	NM_001146115:exon14:c.1579-5C>G;NM_001146116:exon15:c.1696-5C>G;NM_015151:exon15:c.1708-5C>G;NM_206889:exon15:c.1708-5C>G;NM_206890:exon15:c.1708-5C>G;NM_206891:exon15:c.1708-5C>G	.	.	ENST00000427143.2,ENST00000457905.3,ENST00000435722.3,ENST00000318711.7,ENST00000417564.2,ENST00000400274.1,ENST00000466639.1	.	21q22.3	.	.	.	.	.	rs200136063	.	.	0.00996678	0.0099	0.00199681	.	0.0007	0.0079	0.00689127029096	0.00961538588942	.	.	.	.	.	.	.	.	-1.351	-0.118	.	.	AC=2;AN=4;BQB=0.897585;DP4=49,10,30,11;DP=129;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.795155;SF=3,20;SGB=-0.691153;VDB=0.399701	GT:DP:DV:PL	.	.	.	0/1:50:18:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:50:23:255,0,255	.	.	.	.	C	G	0	2	Disco-interacting protein 2, Drosophila, homolog of	.	.	.	17236128|12137943|8724849	.	.	.	.	.	.	.	
L	21	48068519	rs150978784	G	A	194	PASS	PRMT2	protein arginine methyltransferase 2	exonic	NM_001242864,NM_001242865,NM_001242866,NM_001286676,NM_001286677,NM_001286678,NM_001535,NM_206962	.	synonymous SNV	PRMT2:NM_001242864:exon5:c.G477A:p.A159A,PRMT2:NM_001242865:exon5:c.G477A:p.A159A,PRMT2:NM_001242866:exon5:c.G477A:p.A159A,PRMT2:NM_001286676:exon5:c.G477A:p.A159A,PRMT2:NM_001286677:exon5:c.G477A:p.A159A,PRMT2:NM_001286678:exon5:c.G477A:p.A159A,PRMT2:NM_001535:exon5:c.G477A:p.A159A,PRMT2:NM_206962:exon6:c.G477A:p.A159A	ENST00000440086.1,ENST00000397628.1,ENST00000355680.3,ENST00000451211.2,ENST00000291705.6,ENST00000458387.2,ENST00000491389.1,ENST00000334494.4,ENST00000397637.1,ENST00000397638.2	CpG: 24	21q22.3	.	.	.	.	.	rs150978784	.	.	0.00498339	0.003	0.000798722	.	0.0002	0.0018	0.00498339	0.00498339	.	.	.	1,D	.	.	.	1.0132	-2.373	-1.905	.	.	AC=1;AN=2;BQB=0.996974;DP4=5,15,2,10;DP=37;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.230693;SF=20;SGB=-0.680642;VDB=0.149276	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:32:12:227,0,255	.	.	.	.	G	A	0	1	HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1	.	.	.	19300908|9545638|9196002|8663146	ONE_CARBON_COMPOUND_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	NUCLEUS	IDENTICAL_PROTEIN_BINDING	.	.	.	.	
L	22	16287397	rs546808236	G	A	114	PASS	POTEH	POTE ankyrin domain family, member H	exonic	NM_001136213	.	synonymous SNV	POTEH:NM_001136213:exon1:c.C489T:p.S163S	ENST00000343518.6	.	22q11.1	.	.	.	Score=0.993287;Name=chr14:19817856	.	rs546808236	.	.	0.00166113	0.001	0.000199681	.	0.0001	0.0005	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.151	-0.720	.	.	AC=1;AN=2;BQB=0.917113;DP4=90,31,25,13;DP=204;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=1.45815e-05;MQSB=0.00689384;RPB=0.992193;SF=20;SGB=-0.693143;VDB=0.960277	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:159:38:149,0,255	.	.	.	.	G	A	0	1	POTE ankyrin domain family, member H	.	.	.	15276201|12475935	.	.	.	.	.	.	.	
L	22	16287661	rs201321237	G	A	86.86	PASS	POTEH	POTE ankyrin domain family, member H	exonic	NM_001136213	.	synonymous SNV	POTEH:NM_001136213:exon1:c.C225T:p.S75S	ENST00000343518.6	.	22q11.1	.	.	.	Score=0.993287;Name=chr14:19817856	.	rs201321237	.	.	.	.	.	0.0040	0.0001	0.0006	.	0.00869565	.	.	.	.	.	.	.	.	0.149	-3.671	.	.	AC=7;AN=14;BQB=0.827571;DP4=548,320,186,75;DP=1612;HOB=0.5;ICB=1;MQ0F=0;MQ=34;MQB=0.0615264;MQSB=0.000249551;RPB=0.271267;SF=0,10,13,16,17,19,20;SGB=-0.693147;VDB=0.0422052	GT:DP:DV:PL	0/1:219:46:86,0,255	.	.	.	.	.	.	.	.	.	0/1:154:26:76,0,255	.	.	0/1:192:66:251,0,255	.	.	0/1:99:25:149,0,255	0/1:61:17:142,0,255	.	0/1:213:44:74,0,255	0/1:191:37:73,0,255	.	.	.	.	G	A	0	7	POTE ankyrin domain family, member H	.	.	.	15276201|12475935	.	.	.	.	.	.	.	
L	22	16287772	rs199919837	G	A	90.31	PASS	POTEH	POTE ankyrin domain family, member H	exonic	NM_001136213	.	synonymous SNV	POTEH:NM_001136213:exon1:c.C114T:p.S38S	ENST00000343518.6	.	22q11.1	.	.	.	Score=0.993287;Name=chr14:19817856	.	rs199919837	.	.	.	.	.	0.0024	0.0034	0.0090	.	0.0217391	.	.	.	.	.	.	.	.	-2.005	-0.662	.	.	AC=9;AN=18;BQB=0.152318;DP4=451,262,138,149;DP=1374;HOB=0.5;ICB=1;MQ0F=0;MQ=38;MQB=3.77745e-05;MQSB=0.0371048;RPB=0.968291;SF=4,5,7,13,16,17,19,20,23;SGB=-0.692831;VDB=0.954213	GT:DP:DV:PL	.	.	.	.	0/1:125:24:62,0,255	0/1:104:30:95,0,255	.	0/1:81:45:235,0,255	.	.	.	.	.	0/1:153:55:223,0,255	.	.	0/1:100:21:64,0,255	0/1:46:14:130,0,255	.	0/1:196:48:105,0,255	0/1:114:30:122,0,255	.	.	0/1:81:20:92,0,255	.	G	A	0	9	POTE ankyrin domain family, member H	.	.	.	15276201|12475935	.	.	.	.	.	.	.	
H	22	18095609	rs147042004	T	C	148	PASS	ATP6V1E1	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	exonic	NM_001039366,NM_001039367,NM_001696	.	missense SNV	ATP6V1E1:NM_001039366:exon3:c.A179G:p.K60R,ATP6V1E1:NM_001039367:exon4:c.A245G:p.K82R,ATP6V1E1:NM_001696:exon4:c.A245G:p.K82R	ENST00000399796.2,ENST00000253413.5,ENST00000478963.1,ENST00000399798.2	.	22q11.21	.	.	.	.	.	rs147042004	.	.	0.0116279	0.0129	0.00379393	.	0.0011	0.0126	0.0114854289433	0.00961538064904	0.181,T	0.026,B	0.002,B	0.999997,D	0.000117,D	1.33,L	.	9.4317	1.899	5.702	2.207242,17.56	3.48	AC=1;AN=2;BQB=0.12893;DP4=12,3,6,0;DP=30;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.599223;SF=20;SGB=-0.616816;VDB=0.0769344	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:6:181,0,255	.	.	.	.	T	C	0	1	ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1	.	.	.	9405660|8004105	ESTABLISHMENT_OF_LOCALIZATION;TRANSPORT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;ION_TRANSPORT	MEMBRANE_PART;MEMBRANE;PROTON_TRANSPORTING_TWO_SECTOR_ATPASE_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	KEGG_OXIDATIVE_PHOSPHORYLATION;KEGG_VIBRIO_CHOLERAE_INFECTION;KEGG_EPITHELIAL_CELL_SIGNALING_IN_HELICOBACTER_PYLORI_INFECTION	.	.	REACTOME_INSULIN_RECEPTOR_RECYCLING;REACTOME_LATENT_INFECTION_OF_HOMO_SAPIENS_WITH_MYCOBACTERIUM_TUBERCULOSIS;REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_IRON_UPTAKE_AND_TRANSPORT;REACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING;REACTOME_SIGNALING_BY_INSULIN_RECEPTOR	
L	22	19188876	rs181471959	G	A	204	PASS	CLTCL1	clathrin, heavy chain-like 1	exonic	NM_001835,NM_007098	.	synonymous SNV	CLTCL1:NM_001835:exon23:c.C3729T:p.N1243N,CLTCL1:NM_007098:exon23:c.C3729T:p.N1243N	ENST00000263200.10,ENST00000427926.1,ENST00000442042.2,ENST00000353891.5	.	22q11.21	.	.	.	.	.	rs181471959	.	.	0.013289	0.0109	0.00559105	.	0.0040	0.0127	0.00918834554364	0.013289	.	.	.	.	.	.	.	.	1.599	2.471	.	3.2	AC=2;AN=4;BQB=0.727678;DP4=24,2,36,4;DP=88;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.235326;SF=10,20;SGB=-0.692352;VDB=0.242016	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:34:21:255,0,255	.	.	.	.	.	.	.	.	.	0/1:32:19:219,0,227	.	.	.	.	G	A	0	2	Clathrin, heavy polypeptide-like 1	.	.	.	26068709|19478182|9405660|9147638|8844170|8733129|8733128	ESTABLISHMENT_OF_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;RECEPTOR_MEDIATED_ENDOCYTOSIS	.	.	KEGG_LYSOSOME;KEGG_ENDOCYTOSIS;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_GAP_JUNCTION_DEGRADATION;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_GAP_JUNCTION_TRAFFICKING	
L	22	19220971	rs76099251	G	T	221.67	PASS	CLTCL1	clathrin, heavy chain-like 1	exonic	NM_001835,NM_007098	.	missense SNV	CLTCL1:NM_001835:exon8:c.C1342A:p.L448I,CLTCL1:NM_007098:exon8:c.C1342A:p.L448I	ENST00000263200.10,ENST00000427926.1,ENST00000353891.5	.	22q11.21	.	.	.	.	.	rs76099251	.	.	0.0548173	0.0496	0.0105831	8.2e-05	0.0037	0.0463	0.0474732215926	0.0480769454327	0.116,T	0.341,B	0.46,P	0.994216,D	0.001298,N	1.335,L	1.77,T	4.317	-0.154	3.062	1.420303,12.89	.	AC=3;AN=6;BQB=1;DP4=36,36,26,35;DP=173;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.671246;SF=13,18,20;SGB=-0.692352;VDB=0.0725363	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:44:21:255,0,255	.	.	.	.	0/1:50:28:255,0,255	.	0/1:39:12:255,0,255	.	.	.	.	G	T	0	3	Clathrin, heavy polypeptide-like 1	.	.	.	26068709|19478182|9405660|9147638|8844170|8733129|8733128	ESTABLISHMENT_OF_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;RECEPTOR_MEDIATED_ENDOCYTOSIS	.	.	KEGG_LYSOSOME;KEGG_ENDOCYTOSIS;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_GAP_JUNCTION_DEGRADATION;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_GAP_JUNCTION_TRAFFICKING	
H	22	19221136	rs782244752	G	A	164	PASS	CLTCL1	clathrin, heavy chain-like 1	exonic	NM_001835,NM_007098	.	missense SNV	CLTCL1:NM_001835:exon8:c.C1177T:p.R393C,CLTCL1:NM_007098:exon8:c.C1177T:p.R393C	ENST00000263200.10,ENST00000427926.1,ENST00000353891.5	.	22q11.21	.	.	.	.	.	rs782244752	.	.	.	.	.	.	8.337e-06	0.0001	.	.	0.0,D	0.986,D	1.0,D	1,D	0.000317,D	4.105,H	0.32,T	15.7508	2.004	6.826	6.803721,32	3.57	AC=1;AN=2;BQB=0.372752;DP4=7,5,3,3;DP=22;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.281522;SF=20;SGB=-0.616816;VDB=0.30506	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:18:6:197,0,255	.	.	.	.	G	A	0	1	Clathrin, heavy polypeptide-like 1	.	.	.	26068709|19478182|9405660|9147638|8844170|8733129|8733128	ESTABLISHMENT_OF_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;RECEPTOR_MEDIATED_ENDOCYTOSIS	.	.	KEGG_LYSOSOME;KEGG_ENDOCYTOSIS;KEGG_HUNTINGTONS_DISEASE	.	.	REACTOME_GAP_JUNCTION_DEGRADATION;REACTOME_MEMBRANE_TRAFFICKING;REACTOME_GAP_JUNCTION_TRAFFICKING	PP3
L	22	21107183	rs77534188	G	A	149	PASS	PI4KA	phosphatidylinositol 4-kinase, catalytic, alpha	splicing	NM_058004	NM_058004:exon25:c.2987+8C>T	.	.	ENST00000255882.6,ENST00000572273.1	.	22q11.21	.	.	.	.	.	rs77534188	.	.	0.0166113	0.0159	0.0277556	0.0340	0.0303	0.0134	0.00995405822358	0.019230784375	.	.	.	.	.	.	.	.	1.341	1.673	1.708512,14.46	3.71	AC=2;AN=4;BQB=0.981133;DP4=25,2,18,1;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.981133;SF=4,20;SGB=-0.670168;VDB=0.0122151	GT:DP:DV:PL	.	.	.	.	0/1:17:10:191,0,165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:9:174,0,255	.	.	.	.	G	A	0	2	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)	.	.	.	25855803|22722250|8662589|7961848	PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GLYCEROPHOSPHOLIPID_BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELL_CELL_SIGNALING;LIPID_BIOSYNTHETIC_PROCESS;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;PHOSPHOINOSITIDE_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOINOSITIDE_METABOLIC_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	ORGANELLE_PART;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;INTRACELLULAR_ORGANELLE_PART;GOLGI_ASSOCIATED_VESICLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;INOSITOL_OR_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	PID_AVB3_INTEGRIN_PATHWAY	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
H	22	21165248	rs193188546	G	A	221	PASS	PI4KA	phosphatidylinositol 4-kinase, catalytic, alpha	splicing	NM_058004	NM_058004:exon9:c.1071+7C>T	.	.	ENST00000255882.6,ENST00000572273.1	.	22q11.21	.	.	.	.	.	rs193188546	.	.	0.00166113	0.001	0.000199681	.	4.943e-05	0.0006	0.00166113	0.00166113	.	.	.	.	.	.	.	.	-0.729	0.021	.	.	AC=1;AN=2;BQB=0.504506;DP4=10,4,21,11;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.626632;SF=20;SGB=-0.69312;VDB=0.163876	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:32:255,0,255	.	.	.	.	G	A	0	1	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)	.	.	.	25855803|22722250|8662589|7961848	PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GLYCEROPHOSPHOLIPID_BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;CELL_CELL_SIGNALING;LIPID_BIOSYNTHETIC_PROCESS;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;PHOSPHOINOSITIDE_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOINOSITIDE_METABOLIC_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	ORGANELLE_PART;MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;VESICLE;GOLGI_APPARATUS_PART;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;INTRACELLULAR_ORGANELLE_PART;GOLGI_ASSOCIATED_VESICLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;INOSITOL_OR_PHOSPHATIDYLINOSITOL_KINASE_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	PID_AVB3_INTEGRIN_PATHWAY	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
L	22	21822301	rs465243	T	G	116.25	PASS	TMEM191C	transmembrane protein 191C	exonic	NM_001207052	.	missense SNV	TMEM191C:NM_001207052:exon2:c.T415G:p.Y139D	ENST00000449424.1	CpG: 216	22q11.21	.	.	.	Score=0.993631;Name=chr22:20368703	.	rs465243	.	.	.	.	.	.	0.0110	0.0278	.	0.143478	.	.	.	.	.	.	.	.	0.511	0.186	.	.	AC=7;AN=8;BQB=0.743567;DP4=6,2,31,2;DP=45;HOB=0.5;ICB=1;MQ0F=0;MQ=35;MQB=0.188003;MQSB=1;RPB=0.00473937;SF=12,18,20,22;SGB=-0.651104;VDB=0.587356	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	1/1:8:8:165,24,0	.	.	.	.	.	1/1:10:10:177,30,0	.	0/1:17:9:110,0,171	.	1/1:6:6:128,18,0	.	.	T	G	3	1	.	.	.	.		.	.	.	.	.	.	.	
L	22	23915583	rs1064421	T	C	222	PASS	IGLL1	immunoglobulin lambda-like polypeptide 1	exonic	NM_020070	.	missense SNV	IGLL1:NM_020070:exon3:c.A512G:p.N171S	ENST00000330377.2,ENST00000249053.3,ENST00000458318.1	.	22q11.23	.	.	.	Score=0.934418;Name=chr22:23979888	.	rs1064421	.	.	0.0149502	0.0159	0.00678914	0.0026	0.0045	0.0198	0.00842268073507	0.0132211777644	0.127,T	0.064,B	0.01,B	1,D	0.395782,N	1.795,L	6.29,T	5.0775	0.179	-0.847	.	.	AC=1;AN=2;BQB=0.922781;DP4=25,24,32,20;DP=127;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.41194;MQSB=0.870175;RPB=0.99126;SF=20;SGB=-0.693147;VDB=0.597854	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:101:52:255,0,255	.	.	.	.	T	C	0	1	Agammaglobulinemia 2, 613500 (3)	.	.	.	12384776|9419212|3117530|3024017|2511029|1903358	.	.	.	KEGG_PRIMARY_IMMUNODEFICIENCY	.	.	.	
L	22	26861483	rs35126034	A	T	209	PASS	HPS4	Hermansky-Pudlak syndrome 4	exonic	NM_022081,NM_152841	.	synonymous SNV	HPS4:NM_152841:exon8:c.T726A:p.P242P,HPS4:NM_022081:exon10:c.T741A:p.P247P	ENST00000398145.2,ENST00000402105.3,ENST00000398141.1,ENST00000336873.5	.	22q12.1	.	.	.	.	.	rs35126034	.	.	0.0182724	0.0169	0.00339457	.	0.0009	0.0132	0.00918834732006	0.0144230597356	.	.	.	.	.	.	.	.	0.811	-0.725	.	2.36	AC=2;AN=4;BQB=0.998108;DP4=13,11,10,11;DP=64;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.944319;SF=0,20;SGB=-0.680642;VDB=0.065806	GT:DP:DV:PL	0/1:23:12:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:9:229,0,255	.	.	.	.	A	T	0	2	Hermansky-Pudlak syndrome 4, 614073 (3)	.	.	.	15108212|12756248|12664304|11836498|6031677	REGULATION_OF_BIOLOGICAL_QUALITY;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;HEMOSTASIS;LYSOSOME_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;REGULATION_OF_DEVELOPMENTAL_PROCESS;REGULATION_OF_BODY_FLUID_LEVELS;PROTEIN_STABILIZATION;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;VACUOLE_ORGANIZATION_AND_BIOGENESIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;TRANSPORT;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;CELLULAR_LOCALIZATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_PROTEIN_STABILITY	MEMBRANE_BOUND_VESICLE;CYTOPLASMIC_PART;LYTIC_VACUOLE;CYTOPLASM;VESICLE;VACUOLE;CELL_FRACTION;CYTOPLASMIC_VESICLE;CYTOPLASMIC_MEMBRANE_BOUND_VESICLE;MEMBRANE_FRACTION;SECRETORY_GRANULE;LYSOSOME	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_DIMERIZATION_ACTIVITY	.	.	.	.	
L	22	29885594	rs79235463	A	T	178.87	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	synonymous SNV	NEFH:NM_021076:exon4:c.A1965T:p.P655P	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	rs79235463	.	.	.	.	.	.	0.0009	0.0008	0.0582386	0.0130435	.	.	.	.	.	.	.	.	-1.673	-2.146	.	.	AC=23;AN=46;BQB=0.975884;DP4=1294,785,416,513;DP=4989;HOB=0.5;ICB=1;MQ0F=0;MQ=57;MQB=0.0657547;MQSB=0.276402;RPB=5.56494e-19;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=2.7757e-27	GT:DP:DV:PL	0/1:129:56:255,0,255	0/1:124:46:255,0,255	0/1:152:28:105,0,255	0/1:120:34:208,0,255	0/1:126:37:201,0,255	.	0/1:125:21:82,0,255	0/1:129:48:255,0,255	0/1:118:52:255,0,255	0/1:110:38:255,0,255	0/1:134:52:255,0,255	0/1:109:22:125,0,255	0/1:101:30:198,0,255	0/1:194:35:128,0,255	0/1:145:57:255,0,255	0/1:109:40:255,0,255	0/1:146:48:243,0,255	0/1:113:29:255,0,255	0/1:121:43:255,0,255	.	0/1:115:36:255,0,255	0/1:200:66:252,0,255	0/1:58:14:195,0,255	0/1:168:26:98,0,255	0/1:162:71:255,0,255	A	T	0	23	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	
L	22	31662010	rs2229875	C	T	222	PASS	LIMK2	LIM domain kinase 2	exonic	NM_001031801,NM_005569,NM_016733	.	synonymous SNV	LIMK2:NM_001031801:exon7:c.C870T:p.R290R,LIMK2:NM_016733:exon7:c.C870T:p.R290R,LIMK2:NM_005569:exon8:c.C933T:p.R311R	ENST00000331728.4,ENST00000406516.1,ENST00000340552.4,ENST00000444929.2,ENST00000333611.4	.	22q12.2	.	.	.	.	.	rs2229875	.	.	0.0166113	0.0119	0.00259585	0.0005	0.0016	0.0121	0.00842266416539	0.0132211580529	.	.	.	.	.	.	.	.	0.275	0.486	1.734945,14.61	.	AC=2;AN=4;BQB=0.920586;DP4=39,34,38,36;DP=199;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.619214;SF=3,20;SGB=-0.693079;VDB=0.0849231	GT:DP:DV:PL	.	.	.	0/1:63:29:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:84:45:255,0,255	.	.	.	.	C	T	0	2	LIM domain kinase 2	.	.	.	10436159|8954941|8537403	.	CYTOPLASM;NUCLEUS	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_AXON_GUIDANCE;KEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_RHOA_PATHWAY;PID_CDC42_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_SEMA4D_IN_SEMAPHORIN_SIGNALING;REACTOME_SEMAPHORIN_INTERACTIONS;REACTOME_SEMA4D_INDUCED_CELL_MIGRATION_AND_GROWTH_CONE_COLLAPSE	
H	22	32017116	.	T	A	222	PASS	PISD	phosphatidylserine decarboxylase	exonic	NM_014338	.	missense SNV	PISD:NM_014338:exon7:c.A608T:p.D203V	ENST00000382151.2,ENST00000397500.1,ENST00000439502.2,ENST00000266095.5,ENST00000478893.1,ENST00000336566.4	.	22q12.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061,T	0.102,B	0.076,B	0.998049,N	0.489497,N	1.62,L	.	5.3397	0.022	0.128	1.582297,13.75	.	AC=1;AN=2;BQB=0.620345;DP4=27,8,23,15;DP=107;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.693392;SF=20;SGB=-0.693143;VDB=0.506898	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:38:255,0,255	.	.	.	.	T	A	0	1	Phosphatidylserine decarboxylase	.	.	.	19165886|17478478|16192276|10591208|2007589	.	NUCLEUS	.	KEGG_GLYCEROPHOSPHOLIPID_METABOLISM	PID_HNF3APATHWAY	.	.	PM2
H	22	32110673	rs182090439	C	A	222	PASS	PRR14L	proline rich 14-like	exonic	NM_173566	.	missense SNV	PRR14L:NM_173566:exon4:c.G3152T:p.G1051V	ENST00000397493.2,ENST00000434485.1,ENST00000327423.6	.	22q12.2	.	.	.	.	.	rs182090439	.	.	0.00830565	0.005	0.000998403	.	0.0002	0.0080	0.00284091	0.00830565	0.001,D	0.2,B	0.741,P	1,N	0.309070,N	1.735,L	3.24,T	8.0551	0.027	0.144	2.340350,18.43	.	AC=2;AN=4;BQB=0.782641;DP4=39,19,23,19;DP=129;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.999835;SF=20,21;SGB=-0.692352;VDB=0.0611855	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:21:255,0,255	0/1:47:21:255,0,255	.	.	.	C	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	22	32253491	rs753608617	G	C	222	PASS	DEPDC5	DEP domain containing 5	exonic	NM_001136029,NM_001242896,NM_001242897,NM_014662	.	missense SNV	DEPDC5:NM_001242897:exon30:c.G2982C:p.E994D,DEPDC5:NM_001136029:exon31:c.G3189C:p.E1063D,DEPDC5:NM_014662:exon31:c.G3189C:p.E1063D,DEPDC5:NM_001242896:exon32:c.G3216C:p.E1072D	ENST00000266091.3,ENST00000382111.2,ENST00000400248.2,ENST00000382112.3,ENST00000400246.1,ENST00000400249.2,ENST00000535622.1,ENST00000539165.1,ENST00000382105.2,ENST00000494060.1	.	22q12.3	.	.	.	.	.	rs753608617	.	.	.	.	.	.	1.123e-05	0.0001	.	.	0.037,D	.	.	1,D	0.000021,D	.	1.35,T	9.2213	1.403	1.121	2.564727,19.88	4.66	AC=1;AN=2;BQB=0.984733;DP4=7,11,8,12;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.914068;SF=20;SGB=-0.692067;VDB=0.561198	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:20:255,0,255	.	.	.	.	G	C	0	1	Epilepsy, familial focal, with variable foci, 604364 (3)	.	.	.	25623524|24814846|24585383|24283814|23723238|23542701|23542697|22780917|21725309|15329069|14510823|10825362|10577924|9851433|9734811	.	.	.	.	.	.	.	
L	22	37211200	.	C	T	222	PASS	PVALB	parvalbumin	exonic	NM_001315532,NM_002854	.	synonymous SNV	PVALB:NM_001315532:exon2:c.G141A:p.V47V,PVALB:NM_002854:exon3:c.G141A:p.V47V	ENST00000404171.1,ENST00000417718.2,ENST00000216200.5	.	22q12.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1,D	.	.	.	3.5641	-0.123	0.008	1.508199,13.36	.	AC=1;AN=2;BQB=0.983872;DP4=22,8,23,8;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.99251;SF=20;SGB=-0.69311;VDB=0.599769	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:61:31:255,0,255	.	.	.	.	C	T	0	1	Parvalbumin	.	.	.	24336286|18063801|11160135|10518562|3036821|2572511|2257946|1559707	.	.	.	.	.	.	.	PM2
H	22	37414611	rs748284990	C	T	222	PASS	TST	thiosulfate sulfurtransferase (rhodanese)	exonic	NM_001270483,NM_003312	.	missense SNV	TST:NM_001270483:exon2:c.G163A:p.G55S,TST:NM_003312:exon2:c.G163A:p.G55S	ENST00000403892.3,ENST00000249042.3	CpG: 153	22q12.3	.	.	Score=882;Name=V$MYCMAX_03	.	.	rs748284990	.	.	.	.	.	.	0	0	.	.	0.002,D	0.931,D	0.995,D	1,D	0.000000,D	3.455,M	0.17,T	18.191	2.284	6.054	6.961783,33	4.94	AC=1;AN=2;BQB=0.999885;DP4=10,8,11,8;DP=48;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.875093;SF=20;SGB=-0.69168;VDB=0.995133	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:19:255,0,255	.	.	.	.	C	T	0	1	Thiosulfate sulfurtransferase (Rhodanese)	.	.	.	20663881|9070219|6928732|6493496|6117741|3178139|2918539|711738	ONE_CARBON_COMPOUND_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;NITROGEN_COMPOUND_METABOLIC_PROCESS;CATABOLIC_PROCESS;NITROGEN_COMPOUND_CATABOLIC_PROCESS	.	TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	.	.	.	REACTOME_SULFUR_AMINO_ACID_METABOLISM;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES	PM2,PP3
L	22	37769712	rs144139706	G	A	222	PASS	ELFN2	extracellular leucine-rich repeat and fibronectin type III domain containing 2	exonic	NM_052906	.	synonymous SNV	ELFN2:NM_052906:exon3:c.C1863T:p.D621D	ENST00000402918.2,ENST00000430883.1	CpG: 179	22q13.1	.	.	Score=826;Name=V$ER_Q6	.	.	rs144139706	.	.	0	.	0.00638978	0.0080	0.0032	0	.	.	.	.	.	.	.	.	.	.	-0.821	-1.065	.	.	AC=1;AN=2;BQB=0.797088;DP4=40,24,38,15;DP=162;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.947465;SF=20;SGB=-0.693147;VDB=0.888084	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:117:53:255,0,255	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	22	38005366	rs186284993	A	T	212.67	PASS	GGA1	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	splicing	NM_001172688	.	.	.	ENST00000381756.5,ENST00000343632.4,ENST00000405147.3,ENST00000325180.8,ENST00000414350.3,ENST00000337437.4,ENST00000406772.1	.	22q13.1	.	.	.	.	.	rs186284993	.	.	0.013289	0.0139	0.00319489	.	.	.	.	0.0108172823317	.	.	.	.	.	.	.	.	0.586	0.798	.	2.69	AC=3;AN=6;BQB=0.702704;DP4=11,49,13,47;DP=141;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.207217;SF=5,12,20;SGB=-0.692914;VDB=0.0257919	GT:DP:DV:PL	.	.	.	.	.	0/1:58:25:255,0,255	.	.	.	.	.	.	0/1:32:17:227,0,187	.	.	.	.	.	.	.	0/1:30:18:255,0,255	.	.	.	.	A	T	0	3	Golgi associated, gamma adaptin ear containing, ARF binding protein 1	.	.	.	12668765|12215646|11387475|10814529|10747089|10747088	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	.	KEGG_LYSOSOME	.	.	.	
H	22	38010291	rs144274992	C	T	222	PASS	GGA1	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	splicing	NM_001001560,NM_001172687,NM_001172688,NM_013365	NM_001001560:exon2:c.128+10C>T;NM_001172687:exon2:c.128+10C>T;NM_013365:exon2:c.128+10C>T	.	.	ENST00000381756.5,ENST00000343632.4,ENST00000405147.3,ENST00000325180.8,ENST00000414350.3,ENST00000337437.4,ENST00000406772.1	.	22q13.1	.	.	.	.	.	rs144274992	.	.	0.0116279	0.0139	0.00319489	.	0.0015	0.0186	0.0137825388974	0.00961538064904	.	.	.	.	.	.	.	.	-0.026	-0.770	.	.	AC=3;AN=6;BQB=0.179481;DP4=81,29,68,36;DP=309;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.212269;SF=5,12,20;SGB=-0.693146;VDB=0.0496028	GT:DP:DV:PL	.	.	.	.	.	0/1:98:44:255,0,255	.	.	.	.	.	.	0/1:46:26:255,0,255	.	.	.	.	.	.	.	0/1:70:34:255,0,255	.	.	.	.	C	T	0	3	Golgi associated, gamma adaptin ear containing, ARF binding protein 1	.	.	.	12668765|12215646|11387475|10814529|10747089|10747088	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	.	KEGG_LYSOSOME	.	.	.	
L	22	38037401	rs74643192	G	A	222	PASS	SH3BP1	SH3-domain binding protein 1	exonic	NM_018957	.	synonymous SNV	SH3BP1:NM_018957:exon3:c.G123A:p.P41P	ENST00000442465.2,ENST00000336738.5,ENST00000357436.4,ENST00000495174.1	.	22q13.1	.	.	.	.	.	rs74643192	.	.	0.013289	0.0129	0.00319489	.	0.0013	0.0225	0.0153139433384	0.0108172823317	.	.	.	.	.	.	.	.	-2.721	-3.124	.	.	AC=3;AN=6;BQB=0.906477;DP4=73,68,80,68;DP=400;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.575135;SF=5,12,20;SGB=-0.693147;VDB=0.00294623	GT:DP:DV:PL	.	.	.	.	.	0/1:120:71:255,0,255	.	.	.	.	.	.	0/1:63:32:255,0,255	.	.	.	.	.	.	.	0/1:106:45:255,0,255	.	.	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
L	22	38046262	rs7291860	G	A	221.67	PASS	SH3BP1	SH3-domain binding protein 1	splicing	NM_018957	NM_018957:exon15:c.1414+6G>A	.	.	ENST00000442465.2,ENST00000456099.1,ENST00000357436.4,ENST00000599616.1	.	22q13.1	.	.	.	.	.	rs7291860	.	.	0.013289	0.0129	0.0241613	0.0219	0.0104	0.0263	0.013289	0.0108172823317	.	.	.	.	.	.	.	.	1.011	1.831	.	3.24	AC=3;AN=6;BQB=0.599532;DP4=11,41,22,42;DP=143;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.539778;SF=5,12,20;SGB=-0.692831;VDB=4.49955e-06	GT:DP:DV:PL	.	.	.	.	.	0/1:46:24:255,0,255	.	.	.	.	.	.	0/1:37:17:255,0,255	.	.	.	.	.	.	.	0/1:33:23:255,0,182	.	.	.	.	G	A	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	22	38131069	rs200113910	C	T	222	PASS	TRIOBP	TRIO and F-actin binding protein	exonic	NM_001039141	.	missense SNV	TRIOBP:NM_001039141:exon9:c.C4726T:p.R1576C	ENST00000406386.3	.	22q13.1	.	.	Score=790;Name=V$PAX5_01	.	.	rs200113910	.	.	0.00332226	0.003	0.000798722	8.3e-05	0.0006	0.0064	0.00382848235835	0.00480769233173	0.001,D	0.015,B	0.141,B	1,N	.	1.67,L	1.73,T	4.9177	0.279	0.186	4.099330,23.7	.	AC=1;AN=2;BQB=0.604457;DP4=47,27,37,36;DP=197;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.159592;SF=20;SGB=-0.693147;VDB=0.00494155	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:147:73:255,0,255	.	.	.	.	C	T	0	1	Deafness, autosomal recessive 28, 609823 (3)	.	.	.	20510926|16385458|16385457|11258795|11148140	.	.	.	.	.	.	.	
M	22	38204005	.	C	G	222	PASS	GCAT	glycine C-acetyltransferase	exonic	NM_001171690,NM_014291	.	missense SNV	GCAT:NM_001171690:exon1:c.C31G:p.L11V,GCAT:NM_014291:exon1:c.C31G:p.L11V	ENST00000248924.6,ENST00000415371.1,ENST00000323205.6	CpG: 64	22q13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113,T	0.006,B	0.018,B	1,N	0.467012,N	1.5,L	-1.87,D	6.5591	0.682	-0.749	.	2.52	AC=1;AN=2;BQB=0.382893;DP4=9,3,9,3;DP=32;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.496378;SF=20;SGB=-0.680642;VDB=0.535431	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:12:255,0,255	.	.	.	.	C	G	0	1	Glycine C-acetyltransferase	.	.	.	10712613	.	.	.	KEGG_GLYCINE_SERINE_AND_THREONINE_METABOLISM	.	.	.	PM2
L	22	38341167	.	C	T	222	PASS	C22orf23	chromosome 22 open reading frame 23	exonic	NM_001207062,NM_032561	.	synonymous SNV	C22orf23:NM_001207062:exon4:c.G300A:p.K100K,C22orf23:NM_032561:exon5:c.G363A:p.K121K	ENST00000403305.1,ENST00000403026.1,ENST00000249079.2	.	22q13.1	.	.	Score=792;Name=V$ISRE_01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.594	1.134	2.030773,16.41	.	AC=1;AN=2;BQB=0.590631;DP4=17,10,11,8;DP=67;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.996956;SF=20;SGB=-0.69168;VDB=0.567279	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:46:19:255,0,255	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	22	38493186	rs533864050	C	T	155	PASS	BAIAP2L2	BAI1-associated protein 2-like 2	splicing	NM_025045	NM_025045:exon7:c.466-1G>A	.	.	ENST00000332536.5,ENST00000381669.3	.	22q13.1	.	.	Score=844;Name=V$GRE_C	.	.	rs533864050	.	.	0	.	0.000199681	.	6.035e-05	0.0006	.	0.00869565	.	.	.	1,D	.	.	.	18.1737	2.368	3.304	4.824686,24.8	4.78	AC=1;AN=2;BQB=0.119376;DP4=3,8,2,10;DP=33;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.977066;SF=20;SGB=-0.680642;VDB=0.527393	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:188,0,248	.	.	.	.	C	T	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	22	39016223	rs776819048	G	A	172	PASS	FAM227A	family with sequence similarity 227, member A	exonic	NM_001013647,NM_001291030	.	synonymous SNV	FAM227A:NM_001013647:exon11:c.C1032T:p.H344H,FAM227A:NM_001291030:exon11:c.C753T:p.H251H	ENST00000535113.1,ENST00000406767.2,ENST00000355830.6,ENST00000540952.1	.	22q13.1	.	.	.	.	.	rs776819048	.	.	.	.	.	.	4.732e-05	0.0017	.	.	.	.	.	.	.	.	.	.	0.351	0.124	.	.	AC=1;AN=2;BQB=0.793923;DP4=3,1,7,1;DP=15;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.174611;SF=20;SGB=-0.651104;VDB=0.0118736	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:12:8:206,0,97	.	.	.	.	G	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	22	39357634	rs2294363	A	G	196	PASS	APOBEC3A_B,APOBEC3A	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A	exonic	NM_001193289,NM_001270406,NM_145699	.	synonymous SNV	APOBEC3A_B:NM_001193289:exon3:c.A417G:p.A139A,APOBEC3A:NM_001270406:exon3:c.A363G:p.A121A,APOBEC3A:NM_145699:exon3:c.A417G:p.A139A	ENST00000249116.2,ENST00000402255.1	.	22q13.1	.	.	.	Score=0.943667;Name=chr22:39384121	.	rs2294363	.	.	.	.	.	.	0.0070	0.0088	0.0184659	0.169565	.	.	.	.	.	.	.	.	-4.484	-0.121	.	.	AC=7;AN=8;BQB=0.959503;DP4=36,19,47,31;DP=152;HOB=0.5;ICB=1;MQ0F=0;MQ=45;MQB=2.37594e-07;MQSB=0.703183;RPB=0.731519;SF=2,18,20,22;SGB=-0.692067;VDB=0.16353	GT:DP:DV:PL	.	.	0/1:75:20:135,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:25:25:255,75,0	.	1/1:17:17:255,51,0	.	1/1:16:16:255,48,0	.	.	A	G	3	1	Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (phorbolin 1)	.	.	.	18403710|16728505|11863358|10469298	.	.	.	.	.	.	.	
H	22	41560079	rs373249130	G	A	222	PASS	EP300	E1A binding protein p300	exonic	NM_001429	.	missense SNV	EP300:NM_001429:exon22:c.G3751A:p.G1251R	ENST00000263253.7	.	22q13.2	.	.	.	.	.	rs373249130	.	.	.	.	.	7.7e-05	3.295e-05	0	.	.	0.031,D	0.999,D	1.0,D	0.999999,D	0.000341,D	2.525,M	-1.86,D	19.5959	2.631	9.873	7.180789,34	5.59	AC=1;AN=2;BQB=0.983099;DP4=9,2,8,4;DP=35;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.995748;SF=20;SGB=-0.680642;VDB=0.743718	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:23:12:255,0,255	.	.	.	.	G	A	0	1	Rubinstein-Taybi syndrome 2, 613684 (3); Colorectal cancer, somatic, 114500 (3)	.	.	.	25519132|24352918|23104009|22318606|21764752|21596989|21390126|20164929|20014264|19353645|19270680|19212405|18849969|18273021|17299436|16630816|16319895|15706485|15691758|15186775|12732631|12690203|12483227|12384703|11864601|11583620|11430825|11268218|10700188|10205054|9590171|9488451|9389684|8622873|8004670|7870178	REGULATION_OF_BIOLOGICAL_QUALITY;SYSTEM_DEVELOPMENT;REGULATION_OF_DNA_BINDING;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;N_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROGRAMMED_CELL_DEATH;POSITIVE_REGULATION_OF_BINDING;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;RESPONSE_TO_STRESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_TRANSCRIPTION_FACTOR_ACTIVITY;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;HOMEOSTATIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PEPTIDYL_AMINO_ACID_MODIFICATION;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_DNA_BINDING;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_BINDING;APOPTOSIS_GO;RESPONSE_TO_HYPOXIA	NUCLEUS	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;HISTONE_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;TRANSCRIPTION_COACTIVATOR_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;PROTEIN_C_TERMINUS_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS;DNA_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_CELL_CYCLE;KEGG_WNT_SIGNALING_PATHWAY;KEGG_NOTCH_SIGNALING_PATHWAY;KEGG_TGF_BETA_SIGNALING_PATHWAY;KEGG_ADHERENS_JUNCTION;KEGG_JAK_STAT_SIGNALING_PATHWAY;KEGG_LONG_TERM_POTENTIATION;KEGG_MELANOGENESIS;KEGG_HUNTINGTONS_DISEASE;KEGG_PATHWAYS_IN_CANCER;KEGG_RENAL_CELL_CARCINOMA;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_NOTCH_PATHWAY;PID_P73PATHWAY;PID_HDAC_CLASSIII_PATHWAY;PID_E2F_PATHWAY;PID_HIF2PATHWAY;PID_FRA_PATHWAY;PID_MYC_ACTIVPATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_NFAT_3PATHWAY;PID_REG_GR_PATHWAY;PID_FOXOPATHWAY;PID_P53DOWNSTREAMPATHWAY;PID_AR_TF_PATHWAY;PID_IFNGPATHWAY;PID_ATF2_PATHWAY;PID_AP1_PATHWAY;PID_FOXM1PATHWAY;PID_CMYB_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_HIF1_TFPATHWAY;PID_TAP63PATHWAY;PID_P53REGULATIONPATHWAY;PID_RB_1PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_RELA_PATHWAY;BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_G2_PATHWAY;BIOCARTA_VDR_PATHWAY;BIOCARTA_P53HYPOXIA_PATHWAY;BIOCARTA_HIF_PATHWAY;BIOCARTA_IL7_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_PITX2_PATHWAY;BIOCARTA_NTHI_PATHWAY;BIOCARTA_HER2_PATHWAY;BIOCARTA_MEF2D_PATHWAY;BIOCARTA_TGFB_PATHWAY;BIOCARTA_CARM1_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_CIRCADIAN_REPRESSION_OF_EXPRESSION_BY_REV_ERBA;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_REGULATION_OF_HYPOXIA_INDUCIBLE_FACTOR_HIF_BY_OXYGEN;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRAF6_MEDIATED_IRF7_ACTIVATION;REACTOME_CIRCADIAN_CLOCK;REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_TRAF3_DEPENDENT_IRF_ACTIVATION_PATHWAY;REACTOME_RIG_I_MDA5_MEDIATED_INDUCTION_OF_IFN_ALPHA_BETA_PATHWAYS;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_HEMOSTASIS;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_IMMUNE_SYSTEM	PM2,PP3
H	22	42262865	rs750234252	G	A	222	PASS	SREBF2	sterol regulatory element binding transcription factor 2	exonic	NM_004599	.	missense SNV	SREBF2:NM_004599:exon2:c.G119A:p.G40E	ENST00000361204.4	.	22q13.2	.	.	Score=870;Name=V$HMX1_01	.	.	rs750234252	.	.	.	.	.	.	0.0002	0.0023	.	.	0.011,D	0.634,P	0.991,D	0.999988,D	0.000036,D	1.655,L	0.58,T	17.6357	2.137	5.008	2.769201,21.2	4.7	AC=1;AN=2;BQB=0.672134;DP4=16,4,12,4;DP=46;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.905449;SF=20;SGB=-0.689466;VDB=0.414817	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:16:255,0,255	.	.	.	.	G	A	0	1	Sterol regulatory element binding transcription factor 2	.	.	.	25218172|21858719|20558698|20466885|20466882|18846256|15372105|14645851|11950857|11485982|10619424|9329978|9070916|7958866|7903453|7759101	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	
H	22	43273026	.	G	C	222	PASS	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	splicing	NM_001184970,NM_007229	NM_001184970:exon9:c.1029-10C>G;NM_007229:exon9:c.1029-10C>G	.	.	ENST00000402229.1,ENST00000337959.4,ENST00000407585.1,ENST00000263246.3,ENST00000403744.3	.	22q13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.357	3.692	2.296529,18.14	4.71	AC=1;AN=2;BQB=0.607438;DP4=6,23,14,17;DP=80;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.805202;SF=20;SGB=-0.69311;VDB=0.0004503	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:60:31:255,0,255	.	.	.	.	G	C	0	1	Protein kinase C and casein kinase substrate in neurons 2	.	.	.	23129763|21610094|11179684|10431838|9746365	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	CYTOPLASM	.	.	.	.	.	PM2
H	22	43278180	rs139288927	C	T	222	PASS	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	splicing	NM_001184970,NM_001184971,NM_007229	NM_001184970:exon7:c.906+10G>A;NM_001184971:exon7:c.906+10G>A;NM_007229:exon7:c.906+10G>A	.	.	ENST00000402229.1,ENST00000337959.4,ENST00000407585.1,ENST00000263246.3,ENST00000403744.3	.	22q13.2	.	.	.	.	.	rs139288927	.	.	0.00166113	0.001	0.00139776	0.0004	0.0023	0.0021	0.00382848509954	0.00240384754808	.	.	.	.	.	.	.	.	-1.450	-0.866	.	.	AC=1;AN=2;BQB=0.998572;DP4=21,7,20,5;DP=76;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.929254;SF=20;SGB=-0.692914;VDB=0.0520706	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:25:255,0,255	.	.	.	.	C	T	0	1	Protein kinase C and casein kinase substrate in neurons 2	.	.	.	23129763|21610094|11179684|10431838|9746365	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS	CYTOPLASM	.	.	.	.	.	
H	22	43926729	rs201816198	C	A	222	PASS	EFCAB6	EF-hand calcium binding domain 6	exonic	NM_022785,NM_198856	.	missense SNV	EFCAB6:NM_198856:exon29:c.G3893T:p.G1298V,EFCAB6:NM_022785:exon31:c.G4349T:p.G1450V	ENST00000461800.1,ENST00000396231.2,ENST00000431327.3,ENST00000262726.7	.	22q13.2	.	.	.	.	.	rs201816198	.	.	0.00830565	0.0079	0.00159744	.	0.0007	0.0089	0.00612557330781	0.0084134625	0.011,D	0.93,D	0.986,D	0.992181,N	0.002389,N	3.285,M	-0.87,T	15.2728	2.352	1.300	4.580623,24.4	4.56	AC=1;AN=2;BQB=0.614471;DP4=14,2,19,1;DP=55;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.971897;SF=20;SGB=-0.692067;VDB=0.48759	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:20:255,0,255	.	.	.	.	C	A	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	22	44379822	rs10452	T	A	225.08	PASS	SAMM50	SAMM50 sorting and assembly machinery component	exonic	NM_015380	.	synonymous SNV	SAMM50:NM_015380:exon12:c.T1017A:p.L339L	ENST00000350028.4,ENST00000396202.3	.	22q13.31	.	.	.	.	.	rs10452	.	.	0.00498339	0.003	0.000599042	.	8.243e-05	0.0012	0.00498339	0.00498339	.	.	.	.	.	.	.	.	-1.934	-1.104	.	.	AC=41,1;AN=48;BQB=0.825588;DP4=133,69,820,403;DP=2046;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.980964;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00746739	GT:DP:DV:PL	1/1:68:68:255,205,0,.,.,.	1/1:59:59:255,178,0,.,.,.	1/1:64:64:255,193,0,.,.,.	1/1:50:50:255,151,0,.,.,.	1/1:52:52:255,157,0,.,.,.	.	1/1:77:77:255,232,0,.,.,.	1/1:58:58:255,175,0,.,.,.	1/1:57:57:255,172,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:56:56:255,169,0,.,.,.	1/2:61:61:255,255,255,255,0,255	1/1:36:36:255,108,0,.,.,.	1/1:61:61:255,184,0,.,.,.	0/1:48:23:255,0,255,.,.,.	1/1:50:50:255,151,0,.,.,.	0/1:65:31:255,0,255,.,.,.	1/1:46:46:255,138,0,.,.,.	0/1:64:32:255,0,255,.,.,.	0/1:69:32:255,0,255,.,.,.	1/1:68:68:255,205,0,.,.,.	0/1:91:35:255,0,255,.,.,.	0/1:32:14:255,0,255,.,.,.	1/1:78:78:255,235,0,.,.,.	1/1:68:68:255,205,0,.,.,.	T	C,A	17	7	Sorting and assembly machinery component 50, S. cerevisiae, homolog of	.	.	.	17624330|15644312	.	.	.	.	.	.	REACTOME_MITOCHONDRIAL_PROTEIN_IMPORT;REACTOME_METABOLISM_OF_PROTEINS	
H	22	45792265	rs185337899	T	G	222	PASS	SMC1B	structural maintenance of chromosomes 1B	exonic	NM_001291501,NM_148674	.	missense SNV	SMC1B:NM_001291501:exon7:c.A1215C:p.E405D,SMC1B:NM_148674:exon7:c.A1215C:p.E405D	ENST00000357450.4,ENST00000404354.3	.	22q13.31	.	.	.	.	.	rs185337899	.	.	0.00498339	0.003	0.000599042	.	0.0003	0.0035	0.00382848500766	0.00841346127404	1.0,T	0.045,B	0.008,B	0.947429,D	0.000284,D	-0.035,N	3.89,T	9.9742	-1.043	-0.199	.	.	AC=1;AN=2;BQB=0.98811;DP4=11,4,17,5;DP=53;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.81785;SF=20;SGB=-0.692562;VDB=0.0461032	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:37:22:255,0,255	.	.	.	.	T	G	0	1	.	.	.	.		.	.	.	KEGG_CELL_CYCLE;KEGG_OOCYTE_MEIOSIS	.	.	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS	
M	22	46654722	.	G	A	222	PASS	PKDREJ	polycystin (PKD) family receptor for egg jelly	exonic	NM_006071	.	missense SNV	PKDREJ:NM_006071:exon1:c.C4498T:p.P1500S	ENST00000253255.5	.	22q13.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534,T	0.002,B	0.003,B	1,N	0.000010,N	1.24,L	1.33,T	0.8023	-1.491	-0.290	.	.	AC=1;AN=2;BQB=0.996523;DP4=26,8,13,6;DP=75;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.87803;SF=20;SGB=-0.69168;VDB=0.171861	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:53:19:255,0,255	.	.	.	.	G	A	0	1	Polycystic kidney disease and sea urchin REJ homolog-like	.	.	.	17564962|10602361|9949214	ESTABLISHMENT_OF_LOCALIZATION;SECRETORY_PATHWAY;REPRODUCTIVE_PROCESS;SECRETION_BY_CELL;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;SEXUAL_REPRODUCTION;TRANSPORT;SECRETION;VESICLE_MEDIATED_TRANSPORT;EXOCYTOSIS;CELLULAR_LOCALIZATION;REPRODUCTION	MEMBRANE	.	.	.	.	.	PM2
H	22	50726459	rs192965378	C	T	228	PASS	PLXNB2	plexin B2	exonic	NM_012401	.	missense SNV	PLXNB2:NM_012401:exon6:c.G1388A:p.R463Q	ENST00000359337.4,ENST00000449103.1	CpG: 35	22q13.33	.	.	.	.	.	rs192965378	.	.	0.0149502	0.0129	0.00259585	.	0.0006	0.0138	0.0160796725881	0.0132211777644	0.011,D	0.339,B	0.89,P	0.986198,D	0.017685,N	1.635,L	3.49,T	10.6068	1.039	0.883	4.363709,24.1	2.98	AC=2;AN=2;DP4=0,0,16,19;DP=47;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693136;VDB=0.000953442	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:35:35:255,105,0	.	.	.	.	C	T	1	0	Plexin B2	.	.	.	12183458|10520995|9205841|7889532	.	.	.	KEGG_AXON_GUIDANCE	.	.	.	
L	22	50898563	rs201348990	C	T	228	PASS	SBF1	SET binding factor 1	exonic	NM_002972	.	synonymous SNV	SBF1:NM_002972:exon26:c.G3309A:p.T1103T	ENST00000380817.3,ENST00000390679.3,ENST00000348911.6	CpG: 21	22q13.33	.	.	.	.	.	rs201348990	.	.	0.00664452	0.006	0.00119808	.	0.0008	0.0108	0.0107197312711	0.00721153911058	.	.	.	.	.	.	.	.	0.021	-1.241	2.279751,18.03	.	AC=2;AN=2;DP4=0,0,78,49;DP=156;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.262731	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:127:127:255,255,0	.	.	.	.	C	T	1	0	Charcot-Marie-Tooth disease, type 4B3, 615284 (3)	.	.	.	24799518|23749797|21210780|12668758|9736772|9537414	BIOPOLYMER_METABOLIC_PROCESS;DEPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_DEPHOSPHORYLATION	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY	.	.	.	.	
L	X	209713	rs748105914	A	G	208	PASS	PLCXD1	phosphatidylinositol-specific phospholipase C, X domain containing 1	exonic	NM_018390	.	synonymous SNV	PLCXD1:NM_018390:exon6:c.A561G:p.T187T	ENST00000399012.1,ENST00000381663.3,ENST00000381657.2	CpG: 18	Xp22.33	.	.	.	Score=1;Name=chrY:94821	.	rs748105914	.	.	.	.	.	.	1.72e-05	0.0001	.	.	.	.	.	.	.	.	.	.	-1.303	-0.886	.	.	AC=1;AN=2;BQB=0.972281;DP4=26,3,16,0;DP=65;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.994324;SF=20;SGB=-0.689466;VDB=0.754445	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:16:241,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
L	X	1720027	rs58450457	C	T	222	PASS	AKAP17A	A kinase (PRKA) anchor protein 17A	exonic	NM_005088	.	missense SNV	AKAP17A:NM_005088:exon5:c.C1628T:p.P543L	ENST00000313871.3	CpG: 252	Xp22.33	.	.	.	Score=0.999995;Name=chrY:1264234	.	rs58450457	.	.	0.0249169	0.0228	0.0273562	0.0067	0.0131	0.0202	0.0160796138744	0.0249169	0.003,D	0.166,B	0.614,P	1,N	0.356855,U	0.205,N	0.78,T	4.8688	0.367	1.136	3.083395,22.5	.	AC=1;AN=2;BQB=0.951115;DP4=45,11,24,8;DP=117;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.877256;SF=20;SGB=-0.69312;VDB=0.659329	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:88:32:255,0,255	.	.	.	.	C	T	0	1	A kinase (PRKA) anchor protein 17A	.	.	.	1496421|1302606	.	.	.	.	.	.	.	
H	X	2861193	rs756015600	G	A	185	PASS	ARSE	arylsulfatase E (chondrodysplasia punctata 1)	exonic	NM_000047,NM_001282628,NM_001282631	.	missense SNV	ARSE:NM_001282631:exon7:c.C904T:p.L302F,ARSE:NM_000047:exon8:c.C1039T:p.L347F,ARSE:NM_001282628:exon9:c.C1114T:p.L372F	ENST00000540563.1,ENST00000381134.3,ENST00000545496.1	.	Xp22.33	.	.	.	.	.	rs756015600	.	.	.	.	.	.	0.0002	0.0020	.	.	0.501,T	0.401,B	0.563,P	0.747998,D	0.000020,D	1.41,L	-3.63,D	8.2574	1.608	0.939	1.061131,11.00	3.66	AC=1;AN=2;BQB=0.203162;DP4=6,2,5,3;DP=26;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.422455;SF=20;SGB=-0.651104;VDB=0.471462	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:16:8:218,0,255	.	.	.	.	G	A	0	1	Chondrodysplasia punctata, X-linked recessive, 302950 (3)	.	.	.	23470839|12567415|9497243|9409863|8845834|7720070|2722194	SYSTEM_DEVELOPMENT;SKELETAL_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	.	ARYLSULFATASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;SULFURIC_ESTER_HYDROLASE_ACTIVITY	.	.	.	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GLYCOSPHINGOLIPID_METABOLISM;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_THE_ACTIVATION_OF_ARYLSULFATASES;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_SPHINGOLIPID_METABOLISM;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	
L	X	5811530	rs3747334	G	C	126	PASS	NLGN4X	neuroligin 4, X-linked	exonic	NM_001282145,NM_001282146,NM_020742,NM_181332	.	synonymous SNV	NLGN4X:NM_001282146:exon6:c.C1779G:p.L593L,NLGN4X:NM_020742:exon6:c.C1779G:p.L593L,NLGN4X:NM_181332:exon6:c.C1779G:p.L593L,NLGN4X:NM_001282145:exon7:c.C1779G:p.L593L	ENST00000381093.2,ENST00000538097.1,ENST00000381092.1,ENST00000275857.6,ENST00000381095.3	.	Xp22.32	.	.	.	.	.	rs3747334	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000082035.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.026087	0.0301	0.0431788	.	0	0	0.0137457227491	0.0275362666667	.	.	.	.	.	.	.	.	-3.126	-3.355	.	.	AC=6;AN=8;BQB=0.115086;DP4=43,38,69,2;DP=180;HOB=0.5;ICB=1;MQ0F=0;MQ=51;MQB=4.23086e-08;MQSB=0.651972;RPB=0.000865205;SF=7,12,20,23;SGB=-0.691153;VDB=0.0540214	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:61:18:140,0,255	.	.	.	.	0/1:54:16:118,0,255	.	.	.	.	.	.	.	1/1:23:23:188,69,0	.	.	1/1:14:14:180,42,0	.	G	C	2	2	{Autism susceptibility, X-linked 2}, 300495 (3); {Asperger syndrome susceptibility, X-linked 2}, 300497 (3); Mental retardation, X-linked, 300495 (3)	.	.	.	18434543|18231125|18227507|15620359|15150161|14963808|12669065|10574462	.	.	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	
L	X	5811532	rs3747333	G	A	129.75	PASS	NLGN4X	neuroligin 4, X-linked	exonic	NM_001282145,NM_001282146,NM_020742,NM_181332	.	missense SNV	NLGN4X:NM_001282146:exon6:c.C1777T:p.L593F,NLGN4X:NM_020742:exon6:c.C1777T:p.L593F,NLGN4X:NM_181332:exon6:c.C1777T:p.L593F,NLGN4X:NM_001282145:exon7:c.C1777T:p.L593F	ENST00000381093.2,ENST00000538097.1,ENST00000381092.1,ENST00000275857.6,ENST00000381095.3	.	Xp22.32	.	.	.	.	.	rs3747333	CLINSIG=other;CLNDBN=not_specified;CLNACC=RCV000082034.7;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	0.026087	0.0301	0.0450331	.	4.827e-05	0	0.0154639363574	0.0275362666667	0.052,T	0.81,P	0.995,D	5.13095e-05,P	0.009736,N	2.89,M	0.16,T	10.4894	0.574	4.576	3.200263,22.7	3.23	AC=6;AN=8;BQB=0.336768;DP4=47,36,69,3;DP=180;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=6.26473e-08;MQSB=0.482935;RPB=0.00210541;SF=7,12,20,23;SGB=-0.690438;VDB=0.0116601	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:62:17:133,0,255	.	.	.	.	0/1:55:17:137,0,255	.	.	.	.	.	.	.	1/1:24:24:189,72,0	.	.	1/1:14:14:182,42,0	.	G	A	2	2	{Autism susceptibility, X-linked 2}, 300495 (3); {Asperger syndrome susceptibility, X-linked 2}, 300497 (3); Mental retardation, X-linked, 300495 (3)	.	Autism, association with(CM141646)	CTC-TTC|Leu593Phe|c.1777C>T|p.L593F(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=24570023&dopt=Abstract)	24570023|18434543|18231125|18227507|15620359|15150161|14963808|12669065|10574462	.	.	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	PS3
L	X	8434097	.	C	T	72	PASS	VCX3B	variable charge, X-linked 3B	exonic	NM_001001888	.	synonymous SNV	VCX3B:NM_001001888:exon3:c.C414T:p.S138S	ENST00000444481.1,ENST00000381032.1,ENST00000453306.1,ENST00000381029.4,ENST00000440654.2	.	Xp22.31	.	.	.	Score=0.93294;Name=chrX:6448281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.757	-0.502	.	.	AC=1;AN=2;BQB=0.178516;DP4=24,4,9,1;DP=71;HOB=0.5;ICB=1;MQ0F=0;MQ=33;MQB=0.639997;MQSB=0.373496;RPB=0.51997;SF=20;SGB=-0.670168;VDB=0.165106	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:38:10:106,0,255	.	.	.	.	C	T	0	1	.	.	.	.		GAMETE_GENERATION;SEXUAL_REPRODUCTION;REPRODUCTION	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	.	.	.	.	.	PM2
H	X	9754749	.	A	G	168.5	PASS	SHROOM2	shroom family member 2	exonic	NM_001649	.	missense SNV	SHROOM2:NM_001649:exon1:c.A164G:p.K55R	ENST00000380913.3	CpG: 172	Xp22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219,T	0.038,B	0.069,B	0.961734,D	0.012876,U	1.33,L	1.71,T	9.0873	1.174	4.450	2.023166,16.36	2.9	AC=2;AN=4;BQB=0.900802;DP4=8,0,11,5;DP=31;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=0.900802;MQSB=1;RPB=0.750668;SF=9,20;SGB=-0.590765;VDB=0.288695	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	0/1:8:5:161,0,82	.	.	.	.	.	.	.	.	.	.	0/1:16:11:243,0,118	.	.	.	.	A	G	0	2	Shroom family member 2	.	.	.	16684770|8661129|7795590	ACTIN_FILAMENT_ORGANIZATION;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;ANATOMICAL_STRUCTURE_MORPHOGENESIS;ACTIN_FILAMENT_BASED_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;BRAIN_DEVELOPMENT;ORGAN_MORPHOGENESIS;ESTABLISHMENT_OF_ORGANELLE_LOCALIZATION;ACTIN_CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_VESICLE_LOCALIZATION;MACROMOLECULE_LOCALIZATION;VESICLE_LOCALIZATION;ANATOMICAL_STRUCTURE_DEVELOPMENT;RESPONSE_TO_EXTERNAL_STIMULUS;CELLULAR_LOCALIZATION;ACTIN_FILAMENT_BUNDLE_FORMATION;ORGANELLE_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;PROTEIN_LOCALIZATION;CELL_MIGRATION;ORGAN_DEVELOPMENT;SENSORY_ORGAN_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	ORGANELLE_PART;ADHERENS_JUNCTION;CELL_JUNCTION;CYTOPLASMIC_PART;MEMBRANE_PART;TIGHT_JUNCTION;INTERCELLULAR_JUNCTION;MEMBRANE;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;APICAL_JUNCTION_COMPLEX;CELL_CORTEX_PART;CELL_CORTEX;APICAL_PART_OF_CELL;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;CORTICAL_CYTOSKELETON;APICAL_PLASMA_MEMBRANE;APICOLATERAL_PLASMA_MEMBRANE;CORTICAL_ACTIN_CYTOSKELETON;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;SODIUM_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ACTIN_BINDING;LIGAND_GATED_CHANNEL_ACTIVITY;ACTIN_FILAMENT_BINDING;CYTOSKELETAL_PROTEIN_BINDING;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PM2
H	X	15474088	.	C	A	222	PASS	PIR	pirin (iron-binding nuclear protein)	exonic	NM_001018109,NM_003662	.	missense SNV	PIR:NM_001018109:exon5:c.G363T:p.R121S,PIR:NM_003662:exon5:c.G363T:p.R121S	ENST00000380420.5,ENST00000476381.1,ENST00000380421.3	.	Xp22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371,T	0.001,B	0.001,B	0.689345,D	0.000976,D	-0.56,N	1.03,T	5.0487	-0.273	0.032	1.988986,16.14	.	AC=1;AN=2;BQB=0.725753;DP4=9,5,6,7;DP=43;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.951472;SF=20;SGB=-0.683931;VDB=0.465149	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:13:255,0,255	.	.	.	.	C	A	0	1	Pirin	.	.	.	9079676	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEUS	TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	BIOCARTA_ACTINY_PATHWAY	.	PM2
H	X	16608982	rs767206037	A	T	222	PASS	CTPS2	CTP synthase 2	exonic	NM_001144002,NM_019857,NM_175859	.	missense SNV	CTPS2:NM_001144002:exon18:c.T1695A:p.D565E,CTPS2:NM_019857:exon18:c.T1695A:p.D565E,CTPS2:NM_175859:exon18:c.T1695A:p.D565E	ENST00000483053.1,ENST00000359276.4,ENST00000380241.3,ENST00000443824.1	.	Xp22.2	.	.	.	.	.	rs767206037	.	.	.	.	.	.	1.143e-05	0.0002	.	.	0.544,T	0.985,D	0.995,D	0.999976,N	0.000311,D	1.01,L	1.03,T	12.7836	-0.606	-0.372	2.634206,20.4	.	AC=1;AN=2;BQB=0.562733;DP4=14,17,5,16;DP=71;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.926178;SF=20;SGB=-0.692352;VDB=0.0104037	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:21:255,0,255	.	.	.	.	A	T	0	1	Cytidine 5-prime triphosphate synthetase 2	.	.	.	10899599	.	.	LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY	KEGG_PYRIMIDINE_METABOLISM	.	.	REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_SYNTHESIS_AND_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES	
L	X	26212305	rs4997767	T	G	161.62	PASS	MAGEB6	melanoma antigen family B6	exonic	NM_173523	.	synonymous SNV	MAGEB6:NM_173523:exon2:c.T342G:p.S114S	ENST00000379034.1	.	Xp21.3	.	.	.	Score=0.931103;Name=chrX:26177090	.	rs4997767	.	.	0.0282609	0.0223	0.0111258	.	.	.	0.0282609	0.0282609	.	.	.	.	.	.	.	.	-0.009	-0.954	.	.	AC=10;AN=12;BQB=0.638544;DP4=38,24,39,39;DP=176;HOB=0.5;ICB=1;MQ0F=0;MQ=50;MQB=0.0418416;MQSB=0.6;RPB=0.000280585;SF=0,2,4,11,20,22;SGB=-0.636426;VDB=0.000746069	GT:DP:DV:PL	1/1:7:7:165,21,0	.	0/1:54:16:228,0,255	.	1/1:9:9:238,27,0	.	.	.	.	.	.	1/1:9:9:199,27,0	.	.	.	.	.	.	.	.	1/1:32:32:255,96,0	.	0/1:29:5:63,0,255	.	.	T	G	4	2	Melanoma antigen, family B, 6	.	.	.	15772651|10861452	.	.	.	.	.	.	.	
M	X	27840072	rs143483896	T	C	228	PASS	MAGEB10	melanoma antigen family B10	exonic	NM_182506	.	missense SNV	MAGEB10:NM_182506:exon3:c.T649C:p.C217R	ENST00000356790.2	.	Xp21.3	.	.	.	.	.	rs143483896	.	.	0.0173913	0.0196	0.00397351	.	0.0022	0.0274	0.0128865951203	0.0130434766667	1.0,T	0.101,B	0.11,B	0.999997,N	0.323432,U	0.615,N	3.63,T	6.2242	1.262	0.062	.	2.62	AC=2;AN=2;DP4=0,0,19,17;DP=48;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693139;VDB=0.405232	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:36:36:255,108,0	.	.	.	.	T	C	1	0	Melanoma antigen, family B, 10	.	.	.	11454705	.	.	.	.	.	.	.	
L	X	34961201	rs189661576	G	A	228	PASS	FAM47B	family with sequence similarity 47, member B	exonic	NM_152631	.	missense SNV	FAM47B:NM_152631:exon1:c.G253A:p.G85S	ENST00000329357.5	.	Xp21.1	.	.	.	Score=0.896562;Name=chrX:37021502	.	rs189661576	.	.	0.0217391	0.017	0.00344371	.	0.0014	0.0176	0.0111683706529	0.0231884	0.803,T	0.007,B	0.041,B	1,N	.	1.53,L	1.86,T	5.0147	-2.666	0.170	.	.	AC=2;AN=2;DP4=0,0,63,29;DP=128;MQ0F=0;MQ=59;MQSB=0.982282;SF=20;SGB=-0.693147;VDB=0.249663	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:92:92:255,255,0	.	.	.	.	G	A	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	37027438	rs200865878	C	T	228	PASS	FAM47C	family with sequence similarity 47, member C	exonic	NM_001013736	.	missense SNV	FAM47C:NM_001013736:exon1:c.C955T:p.R319C	ENST00000358047.3	.	Xp21.1	.	.	.	Score=0.896562;Name=chrX:34955671	.	rs200865878	.	.	0.00434783	0.0039	0.000794702	9.5e-05	0.0004	0.0053	0.00434783	0.01159422	0.267,T	0.099,B	0.931,P	1,N	.	1.845,L	2.0,T	2.8818	-1.156	-0.765	2.443029,19.10	.	AC=2;AN=2;DP4=0,0,117,40;DP=239;MQ0F=0;MQ=59;MQSB=0.972613;SF=20;SGB=-0.693147;VDB=0.0825726	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:157:157:255,255,0	.	.	.	.	C	T	1	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	48214678	rs201833765	C	T	228	PASS	SSX3	synovial sarcoma, X breakpoint 3	exonic	NM_021014	.	missense SNV	SSX3:NM_021014:exon2:c.G7A:p.G3R	ENST00000376893.3,ENST00000298396.2	.	Xp11.23	.	.	.	Score=0.962173;Name=chrX:52761123	.	rs201833765	.	.	0.00652174	0.0039	0.0013245	0.0002	0.0009	0.0053	0.00343642371134	0.00652174	0.571,T	0.271,B	0.832,P	1,N	0.764110,N	0.76,N	2.98,T	3.1107	0.081	0.073	.	.	AC=2;AN=2;DP4=0,0,55,13;DP=100;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.0311893	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:68:68:255,205,0	.	.	.	.	C	T	1	0	Synovial sarcoma, X breakpoint 3	.	.	.	9378559|8697803	.	.	.	.	.	.	.	
H	X	54964165	rs34339145	T	A	212.5	PASS	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	splicing	NM_001271804,NM_001271805,NM_002625	NM_001271804:exon11:c.1033-8A>T;NM_001271805:exon10:c.904-8A>T;NM_002625:exon11:c.1099-8A>T	.	.	ENST00000545676.1,ENST00000375006.3,ENST00000374992.2	.	Xp11.21	.	.	.	.	.	rs34339145	.	.	0.0391304	0.0275	0.00847682	0.0003	0.0047	0.0354	0.0274914171821	0.0391304	.	.	.	.	.	.	.	.	-1.268	0.327	.	.	AC=3;AN=4;BQB=0.980034;DP4=4,13,10,13;DP=47;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.483816;SF=4,20;SGB=-0.683931;VDB=0.76218	GT:DP:DV:PL	.	.	.	.	1/1:13:13:255,39,0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:10:230,0,255	.	.	.	.	T	A	1	1	Fructose-2,6-bisphosphatase	.	.	.	9119406|2856848|2837207|2574501|1655632	GLUCOSE_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;GLUCOSE_CATABOLIC_PROCESS;CARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;CATABOLIC_PROCESS;CARBOHYDRATE_CATABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;CYTOSOLIC_PART;CYTOSOL;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;IDENTICAL_PROTEIN_BINDING;KINASE_ACTIVITY;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;CARBOHYDRATE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS	KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM	.	.	REACTOME_GLYCOLYSIS;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_GLUCONEOGENESIS;REACTOME_METABOLISM_OF_CARBOHYDRATES;REACTOME_GLUCOSE_METABOLISM	
H	X	64722106	rs753593798	A	C	222	PASS	ZC3H12B	zinc finger CCCH-type containing 12B	exonic	NM_001010888	.	missense SNV	ZC3H12B:NM_001010888:exon5:c.A1528C:p.M510L	ENST00000423889.3,ENST00000338957.4	.	Xq12	.	.	Score=871;Name=V$TAL1ALPHAE47_01	.	.	rs753593798	.	.	.	.	.	.	1.148e-05	0.0002	.	.	0.234,T	0.001,B	0.0,B	0.753035,D	0.003644,N	0.55,N	2.0,T	12.6928	1.880	3.265	.	5.11	AC=1;AN=2;BQB=0.969078;DP4=22,13,23,19;DP=100;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974991;SF=20;SGB=-0.693146;VDB=0.393792	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:42:255,0,255	.	.	.	.	A	C	0	1	Zinc finger CCCH domain-containing protein 12B	.	.	.	18178554	.	.	.	.	.	.	.	
L	X	64958824	rs187378833	C	T	222	PASS	MSN	moesin	splicing	NM_002444	NM_002444:exon12:c.1345-8C>T	.	.	ENST00000360270.5	.	Xq12	.	.	.	Score=0.945635;Name=chr5:25910860	.	rs187378833	.	.	0.0369565	0.0262	0.00582781	.	0.0016	0.0198	0.0189003334021	0.0275362166667	.	.	.	.	.	.	.	.	1.008	0.536	1.033554,10.85	3.88	AC=1;AN=2;BQB=0.923895;DP4=21,5,32,5;DP=92;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.842057;SF=20;SGB=-0.693141;VDB=0.0409779	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:63:37:255,0,255	.	.	.	.	C	T	0	1	Moesin	.	.	.	25799996|23468526|21549406|14758359|12511959|11728336|11728332|10444190|8188263|3046603|1924289	.	MEMBRANE;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;PLASMA_MEMBRANE	STRUCTURAL_MOLECULE_ACTIVITY;RECEPTOR_BINDING;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	KEGG_LEUKOCYTE_TRANSENDOTHELIAL_MIGRATION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_RHOA_PATHWAY;PID_ER_NONGENOMIC_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_AXON_GUIDANCE;REACTOME_L1CAM_INTERACTIONS;REACTOME_RECYCLING_PATHWAY_OF_L1	
L	X	67938415	rs186109694	A	C	222	PASS	STARD8	StAR-related lipid transfer (START) domain containing 8	exonic	NM_001142503,NM_001142504,NM_014725	.	synonymous SNV	STARD8:NM_001142504:exon5:c.A1419C:p.S473S,STARD8:NM_014725:exon5:c.A1419C:p.S473S,STARD8:NM_001142503:exon6:c.A1659C:p.S553S	ENST00000374599.3,ENST00000252336.6,ENST00000374597.3	.	Xq13.1	.	.	Score=772;Name=V$PAX6_01	.	.	rs186109694	.	.	0.0304348	0.0262	0.00556291	.	0.0021	0.0244	0.0266322927835	0.0231884166667	.	.	.	.	.	.	.	.	-0.180	0.923	.	.	AC=1;AN=2;BQB=0.876275;DP4=15,9,14,14;DP=81;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.349455;SF=20;SGB=-0.693054;VDB=0.00193781	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:28:255,0,255	.	.	.	.	A	C	0	1	START domain-containing protein 8	.	.	.	17976533|17517630|17297465|8724849	.	.	.	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES	
L	X	73749146	rs183504350	C	T	222	PASS	SLC16A2	solute carrier family 16, member 2 (thyroid hormone transporter)	exonic	NM_006517	.	synonymous SNV	SLC16A2:NM_006517:exon5:c.C1269T:p.C423C	ENST00000276033.5,ENST00000587091.1	.	Xq13.2	.	.	.	.	.	rs183504350	.	.	0	.	0.000264901	.	1.306e-05	0	.	.	.	.	.	.	.	.	.	.	-3.206	-1.396	1.257858,12.05	.	AC=1;AN=2;BQB=0.917222;DP4=8,6,11,5;DP=42;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.0768069;SF=20;SGB=-0.689466;VDB=0.39115	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:16:255,0,255	.	.	.	.	C	T	0	1	Allan-Herndon-Dudley syndrome, 300523 (3)	.	.	.	19641107|18687783|18398436|18187543|17318265|16709608|15980113|15889350|15488219|14661163|12871948|9545634|8484404|7981683|1605231	ESTABLISHMENT_OF_LOCALIZATION;ORGANIC_ACID_TRANSPORT;MONOCARBOXYLIC_ACID_TRANSPORT;CARBOXYLIC_ACID_TRANSPORT;TRANSPORT	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CELL_FRACTION;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;MONOCARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;ORGANIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CARBOXYLIC_ACID_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	.	PM2
L	X	91132523	rs188300904	C	T	222	PASS	PCDH11X	protocadherin 11 X-linked	exonic	NM_001168360,NM_001168361,NM_001168362,NM_001168363,NM_032968,NM_032969	.	synonymous SNV	PCDH11X:NM_001168360:exon2:c.C1284T:p.S428S,PCDH11X:NM_001168361:exon2:c.C1284T:p.S428S,PCDH11X:NM_001168362:exon2:c.C1284T:p.S428S,PCDH11X:NM_001168363:exon2:c.C1284T:p.S428S,PCDH11X:NM_032968:exon2:c.C1284T:p.S428S,PCDH11X:NM_032969:exon2:c.C1284T:p.S428S	ENST00000298274.8,ENST00000504220.2,ENST00000373097.1,ENST00000406881.1,ENST00000373088.1,ENST00000361724.1,ENST00000373094.1,ENST00000395337.2,ENST00000361655.2	.	Xq21.31	.	.	.	Score=0.986611;Name=chrY:4829335	.	rs188300904	.	.	0.0282609	0.0209	0.00423841	.	0.0010	0.0130	0.0180412271478	0.0202898766667	.	.	.	.	.	.	.	.	2.115	-0.487	.	3.28	AC=2;AN=4;BQB=0.992282;DP4=42,28,38,18;DP=165;HOB=0.5;ICB=1;MQ0F=0;MQ=52;MQB=0.670137;MQSB=0.890077;RPB=0.998911;SF=3,20;SGB=-0.693054;VDB=0.708004	GT:DP:DV:PL	.	.	.	0/1:58:28:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:28:255,0,255	.	.	.	.	C	T	0	2	Protocadherin 11, X-linked	.	.	.	16425037|11237016|11003707|10655549|10644456|9384598|9110170	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
L	X	100749016	rs5951266	G	C	42.67	PASS	ARMCX4	armadillo repeat containing, X-linked 4	exonic	NM_001256155	.	missense SNV	ARMCX4:NM_001256155:exon2:c.G5440C:p.G1814R	ENST00000423738.3	.	Xq22.1	.	.	.	.	Score=948;Name="5160223:(CTGGGG)n(Simple_repeat)"	rs5951266	.	.	.	.	.	.	.	.	.	.	0.356,T	.	.	1,N	.	.	.	6.8398	0.079	2.246	2.081589,16.73	.	AC=2;AN=4;BQB=0.426445;DP4=15,12,10,0;DP=41;HOB=0.5;ICB=1;MQ0F=0;MQ=47;MQB=0.579578;MQSB=0.579578;RPB=0.0632055;SF=3,20;SGB=-0.556411;VDB=0.0117389	GT:DP:DV:PL	.	.	.	0/1:15:4:76,0,182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:6:77,0,255	.	.	.	.	G	C	0	2	.	.	.	.		.	.	.	.	.	.	.	PM2
H	X	100880072	.	A	G	209	PASS	ARMCX3	armadillo repeat containing, X-linked 3	exonic	NM_016607,NM_177947,NM_177948	.	missense SNV	ARMCX3:NM_016607:exon5:c.A103G:p.K35E,ARMCX3:NM_177947:exon5:c.A103G:p.K35E,ARMCX3:NM_177948:exon5:c.A103G:p.K35E	ENST00000537169.1,ENST00000341189.4,ENST00000471229.2	.	Xq22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595,T	0.019,B	0.068,B	0.598437,D	0.000161,D	-0.27,N	1.83,T	8.5886	1.848	2.468	1.808041,15.03	4.12	AC=1;AN=2;BQB=0.954553;DP4=20,4,18,0;DP=62;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.162535;SF=20;SGB=-0.691153;VDB=0.579429	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:18:242,0,255	.	.	.	.	A	G	0	1	Armadillo repeat containing, X-linked 3	.	.	.	11162520	.	.	.	.	.	.	.	PM2
L	X	103494921	rs375756428	A	G	222	PASS	ESX1	ESX homeobox 1	exonic	NM_153448	.	synonymous SNV	ESX1:NM_153448:exon4:c.T1209C:p.C403C	ENST00000372588.4	.	Xq22.2	.	.	.	.	.	rs375756428	.	.	.	.	.	.	0.0001	0.0015	0.00142045	.	.	.	.	.	.	.	.	.	-0.224	-0.469	.	.	AC=1;AN=2;BQB=0.971594;DP4=17,6,13,6;DP=60;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.974468;SF=20;SGB=-0.69168;VDB=0.835406	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:19:255,0,255	.	.	.	.	A	G	0	1	ESX1-like protein	.	.	.	11374906|9806555|9256347|9245514|8096277	.	.	.	.	.	.	.	
L	X	107328208	rs140450722	C	T	176	PASS	PSMD10	proteasome 26S subunit, non-ATPase 10	exonic	NM_002814	.	missense SNV	PSMD10:NM_002814:exon5:c.G677A:p.G226D	ENST00000217958.3,ENST00000340200.5,ENST00000372295.1,ENST00000372296.1,ENST00000361815.5	.	Xq22.3	.	.	.	Score=0.91251;Name=chr3:186479102	.	rs140450722	.	.	0.0195652	0.0209	0.00423841	.	0.0021	0.0261	0.0195652	0.0159420166667	0.004,D	0.002,B	0.0,B	1,D	0.004499,N	0.88,L	-0.39,T	6.3028	0.178	2.329	5.375899,25.9	2.07	AC=2;AN=2;DP4=0,0,11,0;DP=14;MQ0F=0;MQ=60;SF=20;SGB=-0.676189;VDB=0.534701	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:11:11:203,33,0	.	.	.	.	C	T	1	0	Proteasome 26S subunit, non-ATPase, 10	.	.	.	22890318|21691299|20628200|9714768	.	PROTEASOME_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	.	.	.	.	REACTOME_SIGNALING_BY_WNT;REACTOME_CROSS_PRESENTATION_OF_SOLUBLE_EXOGENOUS_ANTIGENS_ENDOSOMES;REACTOME_ANTIGEN_PROCESSING_CROSS_PRESENTATION;REACTOME_ER_PHAGOSOME_PATHWAY;REACTOME_CELL_CYCLE;REACTOME_ORC1_REMOVAL_FROM_CHROMATIN;REACTOME_DOWNSTREAM_SIGNALING_EVENTS_OF_B_CELL_RECEPTOR_BCR;REACTOME_ACTIVATION_OF_NF_KAPPAB_IN_B_CELLS;REACTOME_SIGNALING_BY_THE_B_CELL_RECEPTOR_BCR;REACTOME_P53_INDEPENDENT_G1_S_DNA_DAMAGE_CHECKPOINT;REACTOME_CDK_MEDIATED_PHOSPHORYLATION_AND_REMOVAL_OF_CDC6;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_REGULATION_OF_ORNITHINE_DECARBOXYLASE_ODC;REACTOME_REGULATION_OF_APOPTOSIS;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_CELL_CYCLE_CHECKPOINTS;REACTOME_CYCLIN_E_ASSOCIATED_EVENTS_DURING_G1_S_TRANSITION_;REACTOME_P53_DEPENDENT_G1_DNA_DAMAGE_RESPONSE;REACTOME_M_G1_TRANSITION;REACTOME_G1_S_TRANSITION;REACTOME_CDT1_ASSOCIATION_WITH_THE_CDC6_ORC_ORIGIN_COMPLEX;REACTOME_SYNTHESIS_OF_DNA;REACTOME_AUTODEGRADATION_OF_THE_E3_UBIQUITIN_LIGASE_COP1;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_REGULATION_OF_MITOTIC_CELL_CYCLE;REACTOME_MITOTIC_M_M_G1_PHASES;REACTOME_ASSEMBLY_OF_THE_PRE_REPLICATIVE_COMPLEX;REACTOME_REGULATION_OF_MRNA_STABILITY_BY_PROTEINS_THAT_BIND_AU_RICH_ELEMENTS;REACTOME_DESTABILIZATION_OF_MRNA_BY_AUF1_HNRNP_D0;REACTOME_DNA_REPLICATION;REACTOME_APOPTOSIS;REACTOME_HIV_INFECTION;REACTOME_HOST_INTERACTIONS_OF_HIV_FACTORS;REACTOME_APC_C_CDH1_MEDIATED_DEGRADATION_OF_CDC20_AND_OTHER_APC_C_CDH1_TARGETED_PROTEINS_IN_LATE_MITOSIS_EARLY_G1;REACTOME_APC_C_CDC20_MEDIATED_DEGRADATION_OF_MITOTIC_PROTEINS;REACTOME_AUTODEGRADATION_OF_CDH1_BY_CDH1_APC_C;REACTOME_SCF_BETA_TRCP_MEDIATED_DEGRADATION_OF_EMI1;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION;REACTOME_S_PHASE;REACTOME_SCFSKP2_MEDIATED_DEGRADATION_OF_P27_P21;REACTOME_VIF_MEDIATED_DEGRADATION_OF_APOBEC3G	
L	X	107431903	rs139740946	G	A	221	PASS	COL4A6	collagen, type IV, alpha 6	exonic	NM_001287758,NM_001287759,NM_001287760,NM_001847,NM_033641	.	synonymous SNV	COL4A6:NM_001287758:exon21:c.C1431T:p.D477D,COL4A6:NM_001287759:exon21:c.C1431T:p.D477D,COL4A6:NM_001287760:exon21:c.C1431T:p.D477D,COL4A6:NM_001847:exon21:c.C1434T:p.D478D,COL4A6:NM_033641:exon21:c.C1431T:p.D477D	ENST00000372216.4,ENST00000334504.7,ENST00000394872.2,ENST00000538570.1,ENST00000545689.1	.	Xq22.3	.	.	.	.	.	rs139740946	.	.	0.0347826	0.0314	0.00635762	.	0.0027	0.0334	0.0240550068729	0.02608695	.	.	.	.	.	.	.	.	-0.354	-0.417	.	.	AC=1;AN=2;BQB=0.998385;DP4=25,20,10,10;DP=90;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.605291;SF=20;SGB=-0.692067;VDB=0.0336678	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:65:20:255,0,255	.	.	.	.	G	A	0	1	?Deafness, X-linked 6, 300914 (3)	.	.	.	23714752|9463311|8661006|8356449|8175748|8125972|7972123|7711741|7592929	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	X	107457351	rs2295920	G	A	169	PASS	COL4A6	collagen, type IV, alpha 6	exonic	NM_001287758,NM_001287759,NM_001287760,NM_001847,NM_033641	.	synonymous SNV	COL4A6:NM_001287758:exon6:c.C432T:p.L144L,COL4A6:NM_001287759:exon6:c.C432T:p.L144L,COL4A6:NM_001287760:exon6:c.C432T:p.L144L,COL4A6:NM_001847:exon6:c.C435T:p.L145L,COL4A6:NM_033641:exon6:c.C432T:p.L144L	ENST00000372216.4,ENST00000334504.7,ENST00000394872.2,ENST00000538570.1,ENST00000545689.1	.	Xq22.3	.	.	.	.	.	rs2295920	.	.	0.0347826	0.0314	0.00635762	.	0.0026	0.0340	0.0240550068729	0.02608695	.	.	.	.	.	.	.	.	-2.392	-1.705	0.989487,10.60	.	AC=1;AN=2;BQB=0.813648;DP4=15,8,10,3;DP=40;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.846966;SF=20;SGB=-0.683931;VDB=0.0295715	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:36:13:202,0,255	.	.	.	.	G	A	0	1	?Deafness, X-linked 6, 300914 (3)	.	.	.	23714752|9463311|8661006|8356449|8175748|8125972|7972123|7711741|7592929	.	.	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION;KEGG_PATHWAYS_IN_CANCER;KEGG_SMALL_CELL_LUNG_CANCER	PID_INTEGRIN1_PATHWAY;PID_INTEGRIN3_PATHWAY;PID_AVB3_INTEGRIN_PATHWAY;PID_SYNDECAN_1_PATHWAY	BIOCARTA_AMI_PATHWAY;BIOCARTA_ACE2_PATHWAY;BIOCARTA_INTRINSIC_PATHWAY;BIOCARTA_PLATELETAPP_PATHWAY;BIOCARTA_VITCB_PATHWAY	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
H	X	114425196	rs12399211	G	A	221.33	PASS	RBMXL3	RNA binding motif protein, X-linked-like 3	exonic	NM_001145346	.	missense SNV	RBMXL3:NM_001145346:exon1:c.G1192A:p.D398N	ENST00000317135.8,ENST00000538422.1,ENST00000424776.3	CpG: 263	Xq23	.	.	.	.	.	rs12399211	.	.	.	.	.	.	0.0118	0.0030	0.0639205	0.0347826	0.186,T	0.821,P	0.996,D	1,P	.	0.55,N	3.36,T	2.8111	0.424	0.197	3.531096,23.1	.	AC=9;AN=18;BQB=0.290042;DP4=572,204,242,161;DP=1642;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=1.89361e-23;SF=2,3,5,7,8,9,12,20,22;SGB=-0.693147;VDB=9.05079e-32	GT:DP:DV:PL	.	.	0/1:166:51:255,0,255	0/1:163:56:255,0,255	.	0/1:192:64:255,0,255	.	0/1:141:48:255,0,255	0/1:114:36:255,0,255	0/1:90:35:255,0,255	.	.	0/1:124:41:255,0,255	.	.	.	.	.	.	.	0/1:132:50:255,0,255	.	0/1:57:22:255,0,255	.	.	G	A	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	X	114425210	rs12399213	G	A	42.34	PASS	RBMXL3	RNA binding motif protein, X-linked-like 3	exonic	NM_001145346	.	synonymous SNV	RBMXL3:NM_001145346:exon1:c.G1206A:p.G402G	ENST00000317135.8,ENST00000538422.1,ENST00000424776.3	CpG: 263	Xq23	.	.	.	.	.	rs12399213	.	.	.	.	.	.	0.0043	0.0029	0.0142045	.	.	.	.	.	.	.	.	.	-0.957	-3.287	.	.	AC=2;AN=4;BQB=1.05252e-06;DP4=88,67,12,27;DP=272;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.997577;MQSB=0.991055;RPB=6.05818e-14;SF=20,22;SGB=-0.692914;VDB=8.79206e-15	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:137:25:72,0,255	.	0/1:57:14:85,0,255	.	.	G	A	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	X	135430756	rs200821500	A	G	222	PASS	ADGRG4	adhesion G protein-coupled receptor G4	exonic	NM_153834	.	missense SNV	ADGRG4:NM_153834:exon6:c.A4891G:p.T1631A	ENST00000394143.1,ENST00000394141.1,ENST00000287534.4,ENST00000370652.1,ENST00000412101.1	.	Xq26.3	.	.	.	.	.	rs200821500	.	.	.	.	.	.	0.0002	0.0021	.	.	0.001,D	0.025,B	0.021,B	1,N	.	0.345,N	1.53,T	4.6553	0.206	0.219	0.972010,10.50	.	AC=1;AN=2;BQB=0.980718;DP4=18,10,19,12;DP=73;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.692276;SF=20;SGB=-0.69311;VDB=0.763167	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:59:31:255,0,255	.	.	.	.	A	G	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	X	138840010	.	A	G	228	PASS	ATP11C	ATPase, class VI, type 11C	exonic	NM_001010986,NM_173694	.	missense SNV	ATP11C:NM_001010986:exon23:c.T2666C:p.L889S,ATP11C:NM_173694:exon23:c.T2666C:p.L889S	ENST00000361648.2,ENST00000460773.1,ENST00000370543.1,ENST00000359686.2,ENST00000327569.3,ENST00000370557.1	.	Xq27.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019,D	0.962,D	0.997,D	0.998645,D	0.000002,D	2.525,M	-0.64,T	10.3217	0.702	8.844	6.148853,28.4	4.28	AC=2;AN=2;DP4=0,0,14,5;DP=26;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.69168;VDB=0.529129	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:19:19:255,57,0	.	.	.	.	A	G	1	0	ATPase, class VI, type 11C	.	.	.	24904167|15533723	.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_ION_TRANSPORT_BY_P_TYPE_ATPASES;REACTOME_ION_CHANNEL_TRANSPORT	PM2,PP3
H	X	140993884	rs150761200	C	T	138.5	PASS	MAGEC1	melanoma antigen family C1	exonic	NM_005462	.	missense SNV	MAGEC1:NM_005462:exon4:c.C694T:p.P232S	ENST00000285879.4,ENST00000406005.2	.	Xq27.2	.	.	.	.	.	rs150761200	.	.	.	.	.	0.0154	0.0012	0.0017	.	.	0.0,D	0.001,B	0.012,B	1,N	.	1.65,L	4.44,T	2.6694	0.054	-0.462	1.192781,11.71	.	AC=2;AN=4;BQB=0.223376;DP4=131,155,34,46;DP=488;HOB=0.5;ICB=1;MQ0F=0;MQ=49;MQB=0.439358;MQSB=0.000362778;RPB=0.717081;SF=2,20;SGB=-0.693132;VDB=1.10661e-06	GT:DP:DV:PL	.	.	0/1:198:34:92,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:168:46:255,0,255	.	.	.	.	C	T	0	2	Melanoma antigen, family C, 1	.	.	.	15772651|9618514|9485030	.	.	.	.	.	.	.	
H	X	140993932	rs141965436	C	A	225	PASS	MAGEC1	melanoma antigen family C1	exonic	NM_005462	.	missense SNV	MAGEC1:NM_005462:exon4:c.C742A:p.L248I	ENST00000285879.4,ENST00000406005.2	.	Xq27.2	.	.	.	.	.	rs141965436	.	.	.	.	.	.	0.0233	0.0035	0.00994318	.	0.427,T	0.182,B	0.784,P	1,D	.	1.3,L	2.34,T	5.8503	0.054	0.117	.	.	AC=3;AN=4;BQB=0.914087;DP4=16,40,28,39;DP=157;HOB=0.5;ICB=1;MQ0F=0;MQ=41;MQB=0.150366;MQSB=0.672746;RPB=0.00162913;SF=15,20;SGB=-0.693097;VDB=0.106969	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:30:30:255,90,0	.	.	.	.	0/1:93:37:255,0,255	.	.	.	.	C	A	1	1	Melanoma antigen, family C, 1	.	.	.	15772651|9618514|9485030	.	.	.	.	.	.	.	
H	X	150869021	rs760486836	G	A	222	PASS	PRRG3	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	exonic	NM_024082	.	missense SNV	PRRG3:NM_024082:exon4:c.G212A:p.R71Q	ENST00000538575.1,ENST00000370354.1,ENST00000370353.3	.	Xq28	.	.	.	.	.	rs760486836	.	.	0.00217391	0.0013	0.000264901	.	0.0002	0.0024	0.00171820910653	0.00217391	0.361,T	0.089,B	0.913,P	1,N	0.000417,D	0.55,N	-6.69,D	15.1009	2.153	2.529	2.420975,18.96	5.19	AC=1;AN=2;BQB=0.819588;DP4=48,8,37,17;DP=142;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.132122;SF=20;SGB=-0.693147;VDB=0.899788	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:110:54:255,0,255	.	.	.	.	G	A	0	1	Proline-rich gamma-carboxyglutamic acid protein 3	.	.	.	11171957	.	.	.	.	.	.	.	
L	X	151922151	.	C	T	24.01	PASS	MAGEA2	melanoma antigen family A2	splicing	NM_175742	.	.	.	ENST00000480629.1,ENST00000393872.3,ENST00000370284.1,ENST00000393876.1,ENST00000543232.1	.	Xq28	.	.	.	Score=0.991089;Name=chrX:151847040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	-2.701	.	.	AC=1;AN=2;BQB=0.75;DP4=2,0,2,0;DP=8;HOB=0.5;ICB=1;MQ0F=0;MQ=36;MQB=1;RPB=0.5;SF=20;SGB=-0.453602;VDB=0.6	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:4:2:57,0,57	.	.	.	.	C	T	0	1	Melanoma antigen, family A, 2	.	.	.	15772651|8575766|8276455|7927540	.	.	.	.	.	.	.	PM2
L	X	151935540	rs186907646	G	A	222	PASS	MAGEA3	melanoma antigen family A3	exonic	NM_005362	.	synonymous SNV	MAGEA3:NM_005362:exon3:c.C627T:p.I209I	ENST00000370278.3,ENST00000393902.3	.	Xq28	.	.	.	Score=0.991089;Name=chrX:151847040	.	rs186907646	.	.	0.00434783	0.0026	0.000529801	.	0.0005	0.0066	0.00434783	0.00434783	.	.	.	.	.	.	.	.	0.048	-0.312	.	.	AC=1;AN=2;BQB=0.933885;DP4=27,23,27,16;DP=110;HOB=0.5;ICB=1;MQ0F=0;MQ=59;MQB=0.981616;MQSB=0.978147;RPB=0.918535;SF=20;SGB=-0.693146;VDB=0.998698	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:93:43:255,0,255	.	.	.	.	G	A	0	1	Melanoma antigen, family A, 3	.	.	.	15772651|8575766|7927540	.	.	.	.	.	.	.	
L	X	153216366	rs144160012	G	A	222	PASS	HCFC1	host cell factor C1	exonic	NM_005334	.	synonymous SNV	HCFC1:NM_005334:exon23:c.C5601T:p.A1867A	ENST00000369984.4,ENST00000354233.3,ENST00000310441.7	.	Xq28	.	.	Score=797;Name=V$GFI1_01	.	.	rs144160012	.	.	0.023913	0.0262	0.00556291	.	0.0031	0.0365	0.0189003264605	0.0231883666667	.	.	.	1,D	.	.	.	7.813	-3.229	-3.528	1.735578,14.61	.	AC=2;AN=4;BQB=0.672784;DP4=69,35,46,21;DP=237;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.998731;SF=2,20;SGB=-0.693136;VDB=0.64883	GT:DP:DV:PL	.	.	0/1:89:35:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:82:32:255,0,255	.	.	.	.	G	A	0	2	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)	.	.	.	24311690|24011988|23000143|19855399|8833156|8661027|8392914|7829097|7789979|7721097|1870093	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE	CYTOPLASM;NUCLEUS	IDENTICAL_PROTEIN_BINDING;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	
L	X	153219977	.	G	A	222	PASS	HCFC1	host cell factor C1	exonic	NM_005334	.	synonymous SNV	HCFC1:NM_005334:exon17:c.C3873T:p.N1291N	ENST00000369984.4,ENST00000354233.3,ENST00000310441.7	CpG: 67	Xq28	.	.	Score=825;Name=V$CEBP_C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	2.721	.	3.46	AC=1;AN=2;BQB=0.199651;DP4=62,35,55,51;DP=273;HOB=0.5;ICB=1;MQ0F=0;MQ=60;MQB=1;MQSB=1;RPB=0.955257;SF=20;SGB=-0.693147;VDB=0.0600608	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:203:106:255,0,255	.	.	.	.	G	A	0	1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)	.	.	.	24311690|24011988|23000143|19855399|8833156|8661027|8392914|7829097|7789979|7721097|1870093	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_COMPONENT_ASSEMBLY;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;TRANSCRIPTION;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELL_CYCLE;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;REGULATION_OF_CELL_CYCLE	CYTOPLASM;NUCLEUS	IDENTICAL_PROTEIN_BINDING;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	.	.	.	PM2
L	1	1407477	rs3831114	CGGCGG	C	81.83	PASS	ATAD3B	ATPase family, AAA domain containing 3B	splicing	NM_031921	.	.	.	ENST00000308647.7,ENST00000378741.3	CpG: 119	1p36.33	.	.	.	Score=0.905283;Name=chr1:1439902	Score=189;Name="2118:(CGGGG)n(Simple_repeat)"	rs3831114	.	.	.	.	.	.	0	.	.	0.434783	.	.	.	.	.	.	.	.	.	.	-0.471842,1.823	.	AC=7,1;AN=8;DP4=0,0,10,3;DP=30;IDV=2;IMF=0.333333;MQ0F=0;MQ=44;MQSB=1;SF=10,20,21,24;SGB=-0.511536;VDB=0.946712	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	1/1:3:3:114,9,0,.,.,.	.	.	.	.	.	.	.	.	.	1/1:3:3:89,9,0,.,.,.	1/1:5:5:171,15,0,.,.,.	.	.	2/1:2:2:96,56,53,43,0,40	CGGCGGGGCGGGGCGGGGCGGG	CGGCGGGGCGGGGCGGG,CGGCGGGGCGGGGCGGGGCGGGGCGGG	3	1	ATPase family, AAA domain-containing, member 3B	.	.	.	18063578|17210950|16909202|12865426|10574462	.	.	.	.	.	.	.	
H	1	9085025	.	T	TTGTGCCCACCG	220.5	PASS	SLC2A7	solute carrier family 2 (facilitated glucose transporter), member 7	splicing	NM_207420	NM_207420:exon2:c.150+10->CGGTGGGCACA	.	.	ENST00000400906.1	.	1p36.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=4;AN=8;DP4=148,47,178,140;DP=653;HOB=0.5;ICB=1;IDV=3;IMF=0.0212766;MQ0F=0;MQ=60;MQSB=1;SF=10,13,20,21;SGB=-0.693147;VDB=0.0044123	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:106:71:255,0,200	.	.	0/1:141:95:255,0,189	.	.	.	.	.	.	0/1:99:40:255,0,255	0/1:167:112:255,0,166	.	.	.	TTGTGCCCACC	TTGTGCCCACCGTGTGCCCACC	0	4	Solute carrier family 2 (facilitated glucose transporter), member 7	.	.	.		.	.	.	.	.	.	REACTOME_TRANSMEMBRANE_TRANSPORT_OF_SMALL_MOLECULES;REACTOME_SLC_MEDIATED_TRANSMEMBRANE_TRANSPORT;REACTOME_TRANSPORT_OF_GLUCOSE_AND_OTHER_SUGARS_BILE_SALTS_AND_ORGANIC_ACIDS_METAL_IONS_AND_AMINE_COMPOUNDS;REACTOME_FACILITATIVE_NA_INDEPENDENT_GLUCOSE_TRANSPORTERS	PM2
L	1	16865770	rs200788146	CT	C	105.38	PASS	FAM231B	family with sequence similarity 231, member B	exonic	NM_001310155	.	frameshift deletion	FAM231B:NM_001310155:exon1:c.211delT:p.F71fs	ENST00000601199.1	.	1p36.13	.	.	.	Score=0.974349;Name=chr1:17175658	.	rs200788146	.	.	.	.	.	.	0	0	.	0.691304	.	.	.	.	.	.	.	.	.	.	-0.853925,0.540	.	AC=31;AN=32;DP4=7,8,303,20;DP=359;HOB=0.5;ICB=1;IDV=17;IMF=1;MQ0F=0;MQ=36;MQSB=1;SF=0,2,3,5,6,8,10,11,12,13,14,15,18,19,20,22;SGB=-0.690438;VDB=0.145409	GT:DP:DV:PL	1/1:17:17:120,51,0	.	1/1:22:22:135,66,0	1/1:26:26:171,78,0	.	1/1:39:39:143,117,0	1/1:19:19:139,57,0	.	1/1:5:5:81,15,0	.	1/1:15:15:132,45,0	1/1:16:16:120,48,0	1/1:21:21:150,63,0	1/1:19:19:135,57,0	1/1:31:31:149,93,0	1/1:23:23:159,69,0	.	.	1/1:25:25:156,75,0	0/1:27:12:90,0,167	1/1:25:25:140,75,0	.	1/1:8:8:105,24,0	.	.	CTTTT	CTTT	15	1	.	.	.	.		.	.	.	.	.	.	.	
L	1	17085999	rs59375146	CCCCG	C	125.95	PASS	MST1L	macrophage stimulating 1-like	exonic	NM_001271733	.	frameshift deletion	MST1L:NM_001271733:exon7:c.894_897del:p.G298fs	.	CpG: 128	1p36.13	.	.	.	Score=0.987113;Name=chr1:16972126	.	rs59375146	.	.	.	.	.	.	0.0008	0.0030	0.161932	0.173913	.	.	.	.	.	.	.	.	.	.	1.539640,11.10	.	AC=21;AN=42;DP4=75,659,9,501;DP=1736;HOB=0.5;ICB=1;IDV=11;IMF=0.203704;MQ0F=0;MQ=41;MQSB=0.664055;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,15,17,18,19,20,21,23,24;SGB=-0.680642;VDB=0.779558	GT:DP:DV:PL	0/1:37:12:139,0,255	0/1:42:35:161,0,66	0/1:61:37:231,0,255	0/1:51:20:182,0,255	0/1:40:20:168,0,255	0/1:103:21:88,0,255	0/1:58:23:132,0,255	0/1:62:40:191,0,240	0/1:43:19:187,0,255	0/1:28:10:142,0,255	0/1:58:28:196,0,255	0/1:40:19:201,0,255	0/1:31:16:161,0,255	.	.	0/1:41:13:104,0,255	.	0/1:25:18:164,0,110	0/1:33:15:154,0,255	0/1:55:12:110,0,255	0/1:51:17:149,0,255	0/1:95:39:232,0,255	.	0/1:163:43:59,0,255	0/1:127:53:202,0,255	CCCCGCCC	CCCC	0	21	.	.	.	.		.	.	.	.	.	.	.	
H	1	20517156	rs542983737	G	GCACATGATAAGGCCCAAGTCC	222	PASS	UBXN10	UBX domain protein 10	exonic	NM_152376	.	nonframeshift insertion	UBXN10:NM_152376:exon2:c.102_103insCACATGATAAGGCCCAAGTCC:p.M34delinsMHMIRPKS	ENST00000375099.3	.	1p36.12	.	.	.	.	.	rs542983737	.	.	0.0166113	0.0159	0.00339457	.	0.0014	0.0166	0.0222051891271	0.0132211580529	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=17,19,10,6;DP=66;HOB=0.5;ICB=1;IDV=15;IMF=0.227273;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.689466;VDB=4.93057e-07	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:52:16:255,0,255	.	.	.	.	GCACATGATAAGGCCCAAGTCC	GCACATGATAAGGCCCAAGTCCCACATGATAAGGCCCAAGTCC	0	1	.	.	.	.		.	.	.	.	.	.	.	PM4
H	1	22838560	rs779648270	CAAG	C	43.35	PASS	ZBTB40	zinc finger and BTB domain containing 40	exonic	NM_001083621,NM_014870	.	nonframeshift deletion	ZBTB40:NM_014870:exon11:c.2395_2397del:p.799_799del,ZBTB40:NM_001083621:exon12:c.2395_2397del:p.799_799del	ENST00000374651.4,ENST00000375647.4,ENST00000404138.1	.	1p36.12	.	.	.	.	.	rs779648270	.	.	.	.	.	.	0.0069	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	2.642984,14.80	.	AC=2;AN=4;DP4=23,25,4,4;DP=69;HOB=0.5;ICB=1;IDV=4;IMF=0.121212;MQ0F=0;MQ=60;MQSB=1;SF=1,20;SGB=-0.556411;VDB=0.328593	GT:DP:DV:PL	.	0/1:23:4:88,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:4:72,0,255	.	.	.	.	CAAGAAGAAGAAGAAGA	CAAGAAGAAGAAGA	0	2	Zinc finger- and BTB domain-containing protein 40	.	.	.	18445777|9455484	.	.	.	.	.	.	.	PM4
H	1	26670650	rs199784730	T	TTCC	222	PASS	AIM1L	absent in melanoma 1-like	exonic	NM_001039775	.	nonframeshift insertion	AIM1L:NM_001039775:exon2:c.2498_2499insGGA:p.E833delinsEE	.	.	1p36.11	.	.	.	.	.	rs199784730	.	.	0.00166113	0.001	0.00419329	.	0.0032	0	0.00142045	0.00166113	.	.	.	.	.	.	.	.	.	.	1.502003,10.97	.	AC=1;AN=2;DP4=36,25,31,26;DP=149;HOB=0.5;ICB=1;IDV=56;IMF=0.373333;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.000188351	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:118:57:255,0,255	.	.	.	.	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTC	0	1	.	.	.	.		.	.	.	.	.	.	.	PM4
L	1	92944314	.	CAGAG	C	157.16	PASS	GFI1	growth factor independent 1 transcription repressor	splicing	NM_001127215,NM_001127216,NM_005263	.	.	.	ENST00000294702.5,ENST00000370332.1,ENST00000427103.1	.	1p22.1	.	.	.	.	Score=333;Name="192718:(GA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	2.358594,13.84	.	AC=13,12,7,4,2,3,3,1;AN=50;DP4=2,27,5,231;DP=622;HOB=0.5;ICB=1;IDV=15;IMF=0.6;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.399491	GT:DP:DV:PL	7/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,152,.,.,.,.,143,.,.,.,.,.,.,.,143,.,.,.,.,0,.,119,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,192,.,180,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,161,.,0,.,.,.,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:8:8:252,.,.,125,.,116,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,140,.,0,.,.,.,131,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:10:7:74,.,.,.,.,.,0,.,.,81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:18:16:255,82,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,164,0,.,.,.,.,.,195,.,.,.,.,.,.,.,.,.	1/3:9:8:215,33,42,.,.,.,169,0,.,184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:10:185,.,.,44,.,85,101,.,0,140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:11:11:255,237,228,88,0,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:86,.,.,.,.,.,0,.,.,59,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:6:6:220,.,.,.,.,.,.,.,.,.,56,.,.,.,44,171,.,.,.,0,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:134,.,.,.,.,.,8,.,.,39,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:12:12:255,171,159,154,0,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:10:10:255,108,93,.,.,.,194,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:8:7:207,.,.,.,.,.,148,.,.,159,49,.,.,0,57,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,105,77,235,0,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:8:8:255,199,193,87,0,71,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,170,.,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,146,.,0,.,.,.,134,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:7:6:149,61,70,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,80,0,.,.,.,.,.,87,.,.,.,.,.,.,.,.,.	2/1:15:15:255,228,216,119,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:5:5:238,143,137,105,0,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:197,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:15:15:255,208,193,195,0,177,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/8:6:6:255,.,.,.,.,.,.,.,.,.,144,.,.,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,144,.,.,.,0,.,.,.,135	2/1:10:9:185,95,103,83,0,90,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:113,.,.,.,.,.,.,.,.,.,0,.,.,.,111,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	0	25	Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)	.	.	.	25043047|19188499|17707228|17116877|15457180|15385956|15254021|12778173|12721361|12530980|12049724|11810106|11807637|11246463|10975525|8441411|7789186	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTERPHASE;CELL_CYCLE_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;VIRAL_REPRODUCTION;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;INTERPHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_TRANSCRIPTION;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	.	.	PID_MYC_REPRESSPATHWAY	.	.	
H	1	92944314	rs371078453	C	CAGAGAGAG	157.16	PASS	GFI1	growth factor independent 1 transcription repressor	splicing	NM_001127215,NM_001127216,NM_005263	NM_001127215:exon6:c.925-4->CTCTCTCT;NM_001127216:exon6:c.925-4->CTCTCTCT;NM_005263:exon6:c.925-4->CTCTCTCT	.	.	ENST00000294702.5,ENST00000370332.1,ENST00000427103.1	.	1p22.1	.	.	.	.	.	rs371078453	.	.	.	.	.	.	0.0327	0.0439	.	0.0913043	.	.	.	.	.	.	.	.	.	.	1.378494,10.54	.	AC=13,12,7,4,2,3,3,1;AN=50;DP4=2,27,5,231;DP=622;HOB=0.5;ICB=1;IDV=15;IMF=0.6;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.399491	GT:DP:DV:PL	7/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,152,.,.,.,.,143,.,.,.,.,.,.,.,143,.,.,.,.,0,.,119,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,192,.,180,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,161,.,0,.,.,.,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:8:8:252,.,.,125,.,116,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,140,.,0,.,.,.,131,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:10:7:74,.,.,.,.,.,0,.,.,81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:18:16:255,82,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,164,0,.,.,.,.,.,195,.,.,.,.,.,.,.,.,.	1/3:9:8:215,33,42,.,.,.,169,0,.,184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:10:185,.,.,44,.,85,101,.,0,140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:11:11:255,237,228,88,0,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:86,.,.,.,.,.,0,.,.,59,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:6:6:220,.,.,.,.,.,.,.,.,.,56,.,.,.,44,171,.,.,.,0,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:134,.,.,.,.,.,8,.,.,39,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:12:12:255,171,159,154,0,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:10:10:255,108,93,.,.,.,194,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:8:7:207,.,.,.,.,.,148,.,.,159,49,.,.,0,57,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,105,77,235,0,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:8:8:255,199,193,87,0,71,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,170,.,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,146,.,0,.,.,.,134,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:7:6:149,61,70,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,80,0,.,.,.,.,.,87,.,.,.,.,.,.,.,.,.	2/1:15:15:255,228,216,119,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:5:5:238,143,137,105,0,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:197,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:15:15:255,208,193,195,0,177,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/8:6:6:255,.,.,.,.,.,.,.,.,.,144,.,.,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,144,.,.,.,0,.,.,.,135	2/1:10:9:185,95,103,83,0,90,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:113,.,.,.,.,.,.,.,.,.,0,.,.,.,111,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	0	25	Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)	.	.	.	25043047|19188499|17707228|17116877|15457180|15385956|15254021|12778173|12721361|12530980|12049724|11810106|11807637|11246463|10975525|8441411|7789186	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTERPHASE;CELL_CYCLE_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;VIRAL_REPRODUCTION;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;INTERPHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_TRANSCRIPTION;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	.	.	PID_MYC_REPRESSPATHWAY	.	.	
L	1	92944314	.	CAGAGAGAG	C	157.16	PASS	GFI1	growth factor independent 1 transcription repressor	splicing	NM_001127215,NM_001127216,NM_005263	.	.	.	ENST00000294702.5,ENST00000370332.1,ENST00000427103.1	.	1p22.1	.	.	.	.	Score=333;Name="192718:(GA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.329928,13.75	.	AC=13,12,7,4,2,3,3,1;AN=50;DP4=2,27,5,231;DP=622;HOB=0.5;ICB=1;IDV=15;IMF=0.6;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.686358;VDB=0.399491	GT:DP:DV:PL	7/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,152,.,.,.,.,143,.,.,.,.,.,.,.,143,.,.,.,.,0,.,119,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,192,.,180,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,161,.,0,.,.,.,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:8:8:252,.,.,125,.,116,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,140,.,0,.,.,.,131,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:10:7:74,.,.,.,.,.,0,.,.,81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:18:16:255,82,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,164,0,.,.,.,.,.,195,.,.,.,.,.,.,.,.,.	1/3:9:8:215,33,42,.,.,.,169,0,.,184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:10:185,.,.,44,.,85,101,.,0,140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:11:11:255,237,228,88,0,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:86,.,.,.,.,.,0,.,.,59,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:6:6:220,.,.,.,.,.,.,.,.,.,56,.,.,.,44,171,.,.,.,0,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:11:8:134,.,.,.,.,.,8,.,.,39,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:12:12:255,171,159,154,0,142,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:10:10:255,108,93,.,.,.,194,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:8:7:207,.,.,.,.,.,148,.,.,159,49,.,.,0,57,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,105,77,235,0,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:8:8:255,199,193,87,0,71,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/2:11:11:255,.,.,170,.,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,146,.,0,.,.,.,134,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:7:6:149,61,70,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,80,0,.,.,.,.,.,87,.,.,.,.,.,.,.,.,.	2/1:15:15:255,228,216,119,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:5:5:238,143,137,105,0,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:197,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:15:15:255,208,193,195,0,177,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/8:6:6:255,.,.,.,.,.,.,.,.,.,144,.,.,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,144,.,.,.,0,.,.,.,135	2/1:10:9:185,95,103,83,0,90,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:113,.,.,.,.,.,.,.,.,.,0,.,.,.,111,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,CAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	0	25	Neutropenia, severe congenital 2, autosomal dominant, 613107 (3); Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)	.	.	.	25043047|19188499|17707228|17116877|15457180|15385956|15254021|12778173|12721361|12530980|12049724|11810106|11807637|11246463|10975525|8441411|7789186	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTERPHASE;CELL_CYCLE_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;VIRAL_REPRODUCTION;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELL_CYCLE_GO_0007049;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;INTERPHASE_OF_MITOTIC_CELL_CYCLE;REGULATION_OF_TRANSCRIPTION;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	.	.	PID_MYC_REPRESSPATHWAY	.	.	PM2
H	1	109465156	rs199964596	TCAA	T	222	PASS	GPSM2	G-protein signaling modulator 2	exonic	NM_013296	.	nonframeshift deletion	GPSM2:NM_013296:exon13:c.1559_1561del:p.520_521del	ENST00000264126.3,ENST00000357393.4,ENST00000406462.2	.	1p13.3	.	.	.	.	.	rs199964596	.	.	0.00830565	0.0129	0.00279553	.	0.0015	0.0183	0.00612557330781	0.0096153921875	.	.	.	.	.	.	.	.	.	.	0.719329,7.829	.	AC=1;AN=2;DP4=4,7,7,7;DP=33;HOB=0.5;ICB=1;IDV=17;IMF=0.515152;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.686358;VDB=0.00296703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:25:14:255,0,255	.	.	.	.	TCAACAACAAC	TCAACAAC	0	1	Chudley-McCullough syndrome, 604213 (3)	.	.	.	22578326|21348867|21331036|20602914|16357871|15623799|11832491|8973305	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	.	IDENTICAL_PROTEIN_BINDING	.	.	.	.	PM4
L	1	152084657	rs558731460	T	TCTC	40.86	PASS	TCHH	trichohyalin	exonic	NM_007113	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1035_1036insGAG:p.R346delinsER	ENST00000368804.1	.	1q21.3	.	.	.	.	Score=318;Name="258314:CT-rich(Low_complexity)"	rs558731460	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873179,8.541	.	AC=1;AN=2;DP4=15,5,1,5;DP=42;HOB=0.5;ICB=1;IDV=6;IMF=0.142857;MQ0F=0;MQ=46;MQSB=0.0968374;SF=20;SGB=-0.616816;VDB=0.969005	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:6:76,0,255	.	.	.	.	TCTCCTCCT	TCTCCTCCTCCT	0	1	Trichohyalin	.	.	.	12853460|8423399|7686953|7685034|3958055|1431214	.	.	CATION_BINDING;CALCIUM_ION_BINDING;ION_BINDING	.	.	.	.	PM2
L	1	153907278	rs3835302	C	CCTG	212.15	PASS	DENND4B	DENN/MADD domain containing 4B	exonic	NM_014856	.	nonframeshift insertion	DENND4B:NM_014856:exon18:c.2730_2731insCAG:p.E911delinsQE	ENST00000361217.4	.	1q21.3	.	.	Score=907;Name=V$MYOD_01	.	Score=420;Name="261386:(CTG)n(Simple_repeat)"	rs3835302	.	.	.	.	.	0.0267	0.0054	0.0001	.	0.026087	.	.	.	.	.	.	.	.	.	.	0.216132,5.166	.	AC=14,6,1;AN=40;DP4=414,101,420,183;DP=1329;HOB=0.5;ICB=1;IDV=26;IMF=0.509804;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,16,19,20,21,22,23;SGB=-0.693054;VDB=0.00292324	GT:DP:DV:PL	0/1:45:28:255,0,255,.,.,.,.,.,.,.	0/1:60:26:255,0,255,.,.,.,.,.,.,.	0/1:52:25:255,0,255,.,.,.,.,.,.,.	0/1:41:20:255,0,255,.,.,.,.,.,.,.	.	1/2:89:87:255,255,255,255,0,255,.,.,.,.	0/1:45:24:255,0,255,.,.,.,.,.,.,.	0/2:46:22:255,.,.,0,.,255,.,.,.,.	0/1:45:27:255,0,255,.,.,.,.,.,.,.	0/1:37:22:255,0,255,.,.,.,.,.,.,.	0/1:54:32:255,0,255,.,.,.,.,.,.,.	0/1:53:28:255,0,255,.,.,.,.,.,.,.	0/2:42:19:255,.,.,0,.,255,.,.,.,.	0/1:90:47:255,0,255,.,.,.,.,.,.,.	0/1:52:24:255,0,255,.,.,.,.,.,.,.	.	0/2:52:24:255,.,.,0,.,255,.,.,.,.	.	.	0/2:59:29:255,.,.,0,.,255,.,.,.,.	0/3:53:7:90,.,.,.,.,.,0,.,.,255	0/1:103:50:255,0,255,.,.,.,.,.,.,.	0/1:32:26:255,0,215,.,.,.,.,.,.,.	0/2:68:36:255,.,.,0,.,255,.,.,.,.	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTG	0	20	.	.	.	.		.	.	.	.	.	.	.	
H	1	154842199	rs3831942	G	GGCTGCTGCTGCTGCTGCTGCT	195.48	PASS	KCNN3	potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3	exonic	NM_001204087,NM_002249	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGCAGCAGCAGCAGCAGC:p.P81delinsQQQQQQQP,KCNN3:NM_002249:exon1:c.241_242insAGCAGCAGCAGCAGCAGCAGC:p.P81delinsQQQQQQQP	ENST00000271915.4	.	1q21.3	.	.	.	.	.	rs3831942	.	.	.	.	.	.	0.0271	0.0244	.	0.0608696	.	.	.	.	.	.	.	.	.	.	.	.	AC=23,3,6,13,2,2,1;AN=50;DP4=0,0,138,220;DP=1278;IDV=16;IMF=0.275862;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.0001105	GT:DP:DV:PL	1/5:18:18:255,125,83,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:12:12:255,162,135,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:17:17:255,255,255,.,.,.,.,.,.,.,204,0,.,.,164,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,103,.,.,.,.,0,73,.,.,.,.,.,.,.,.	1/3:12:12:255,143,122,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:22:22:255,.,.,.,.,.,137,.,.,86,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,159,120,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:14:14:255,237,210,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:7:7:255,142,133,.,.,.,.,.,.,.,142,0,.,.,133,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:8:8:255,186,177,.,.,.,.,.,.,.,150,0,.,.,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/2:20:20:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,176,.,0,.,.,.,.,131	1/3:10:10:255,114,90,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,250,214,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,198,183,200,0,188,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,159,138,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:10:10:255,171,162,.,.,.,.,.,.,.,157,0,.,.,145,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:15:15:255,114,75,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:14:14:255,255,255,.,.,.,.,.,.,.,202,0,.,.,175,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:19:255,57,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:16:16:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:7:7:255,.,.,.,.,.,126,.,.,114,176,.,.,0,167,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:17:17:255,223,186,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:255,103,91,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,197,0,.,.,.,.,191,.,.,.,.,.,.,.,.	1/1:21:21:255,82,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:18:18:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	2	23	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	.	.	.	19380617|12883553|12805243|11501944|10988076|10732800|10395216|9491810|8781233	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;METAL_ION_TRANSPORT;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	PM4
H	1	154842199	rs56352724	G	GGCTGCT	195.48	PASS	KCNN3	potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3	exonic	NM_001204087,NM_002249	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.241_242insAGCAGC:p.P81delinsQQP,KCNN3:NM_002249:exon1:c.241_242insAGCAGC:p.P81delinsQQP	ENST00000271915.4	.	1q21.3	.	.	.	.	.	rs56352724	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	0.761530,8.030	.	AC=23,3,6,13,2,2,1;AN=50;DP4=0,0,138,220;DP=1278;IDV=16;IMF=0.275862;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.0001105	GT:DP:DV:PL	1/5:18:18:255,125,83,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:12:12:255,162,135,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:17:17:255,255,255,.,.,.,.,.,.,.,204,0,.,.,164,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,103,.,.,.,.,0,73,.,.,.,.,.,.,.,.	1/3:12:12:255,143,122,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:22:22:255,.,.,.,.,.,137,.,.,86,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,159,120,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:14:14:255,237,210,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:7:7:255,142,133,.,.,.,.,.,.,.,142,0,.,.,133,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:8:8:255,186,177,.,.,.,.,.,.,.,150,0,.,.,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/2:20:20:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,176,.,0,.,.,.,.,131	1/3:10:10:255,114,90,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,250,214,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,198,183,200,0,188,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,159,138,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:10:10:255,171,162,.,.,.,.,.,.,.,157,0,.,.,145,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:15:15:255,114,75,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:14:14:255,255,255,.,.,.,.,.,.,.,202,0,.,.,175,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:19:255,57,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:16:16:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:7:7:255,.,.,.,.,.,126,.,.,114,176,.,.,0,167,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:17:17:255,223,186,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:255,103,91,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,197,0,.,.,.,.,191,.,.,.,.,.,.,.,.	1/1:21:21:255,82,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:18:18:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	2	23	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	.	.	.	19380617|12883553|12805243|11501944|10988076|10732800|10395216|9491810|8781233	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;METAL_ION_TRANSPORT;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	PM4
L	1	154842199	.	GGCTGCT	G	195.48	PASS	KCNN3	potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3	exonic	NM_001204087,NM_002249	.	nonframeshift deletion	KCNN3:NM_001204087:exon1:c.236_241del:p.79_81del,KCNN3:NM_002249:exon1:c.236_241del:p.79_81del	ENST00000271915.4	.	1q21.3	.	.	.	.	Score=430;Name="263510:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	0.785286,8.141	.	AC=23,3,6,13,2,2,1;AN=50;DP4=0,0,138,220;DP=1278;IDV=16;IMF=0.275862;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.0001105	GT:DP:DV:PL	1/5:18:18:255,125,83,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:12:12:255,162,135,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:17:17:255,255,255,.,.,.,.,.,.,.,204,0,.,.,164,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/5:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,103,.,.,.,.,0,73,.,.,.,.,.,.,.,.	1/3:12:12:255,143,122,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:22:22:255,.,.,.,.,.,137,.,.,86,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,159,120,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:14:14:255,237,210,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:7:7:255,142,133,.,.,.,.,.,.,.,142,0,.,.,133,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:8:8:255,186,177,.,.,.,.,.,.,.,150,0,.,.,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/2:20:20:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,176,.,0,.,.,.,.,131	1/3:10:10:255,114,90,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:18:255,250,214,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,198,183,200,0,188,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,159,138,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:10:10:255,171,162,.,.,.,.,.,.,.,157,0,.,.,145,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:15:15:255,114,75,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:14:14:255,255,255,.,.,.,.,.,.,.,202,0,.,.,175,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:19:255,57,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:16:16:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:7:7:255,.,.,.,.,.,126,.,.,114,176,.,.,0,167,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:17:17:255,223,186,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:255,103,91,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,197,0,.,.,.,.,191,.,.,.,.,.,.,.,.	1/1:21:21:255,82,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:18:18:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	2	23	Potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member 3	.	.	.	19380617|12883553|12805243|11501944|10988076|10732800|10395216|9491810|8781233	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;CELL_CELL_SIGNALING;METAL_ION_TRANSPORT;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CATION_TRANSPORT;MONOVALENT_INORGANIC_CATION_TRANSPORT;POTASSIUM_ION_TRANSPORT;ION_TRANSPORT;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_POTASSIUM_CHANNEL_COMPLEX;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;POTASSIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	.	.	.	REACTOME_NEURONAL_SYSTEM;REACTOME_POTASSIUM_CHANNELS	
L	1	161192845	rs17244502	CCACA	C	196.56	PASS	APOA2	apolipoprotein A-II	splicing	NM_001643	.	.	.	ENST00000470459.2,ENST00000463812.1,ENST00000464492.1,ENST00000491350.1,ENST00000468465.1,ENST00000367990.3	.	1q23.3	.	.	.	.	Score=351;Name="275299:(CA)n(Simple_repeat)"	rs17244502	.	.	.	.	.	.	.	.	.	0.0434783	.	.	.	.	.	.	.	.	.	.	-0.129832,3.364	.	AC=22,10,2,9,4,1;AN=50;DP4=17,22,276,556;DP=1549;HOB=0.5;ICB=1;IDV=42;IMF=0.646154;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.0246119	GT:DP:DV:PL	1/5:39:39:255,255,231,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/3:35:34:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:30:30:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:34:34:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:31:31:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:26:25:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:37:37:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:31:31:255,255,255,.,.,.,.,.,.,.,255,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:38:38:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:35:34:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:29:29:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:24:24:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:52:51:255,196,93,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/2:29:29:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:34:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:41:41:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:24:24:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:34:34:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:34:34:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:36:19:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:50:46:255,.,.,201,.,230,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:9:9:255,104,86,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255	1/5:61:61:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/5:46:44:255,225,160,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	CCACACACACACACACACACACACACACACACACACACAC	CCACACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACAC	0	25	Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3)	.	.	.	12738753|12522687|8248186|6433912|6403543|6095840|6089788|3136074|2995928|2989800|2894758|2858663|2500391|2415515|2107739|1301170	REGULATION_OF_BIOLOGICAL_QUALITY;POSITIVE_REGULATION_OF_TRANSLATION;PROTEIN_FOLDING;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_HYDROLASE_ACTIVITY;REGULATION_OF_SECRETION;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_CYTOKINE_SECRETION;REGULATION_OF_MOLECULAR_FUNCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;SECRETION_BY_CELL;NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;BIOSYNTHETIC_PROCESS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;LIPID_TRANSPORT;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;INTERLEUKIN_8_BIOSYNTHETIC_PROCESS;PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_CARBOHYDRATE_STIMULUS;CYTOKINE_PRODUCTION;LIPOPROTEIN_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;IMMUNE_EFFECTOR_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;INTERLEUKIN_8_PRODUCTION;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;IMMUNE_RESPONSE;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;REGULATION_OF_CATALYTIC_ACTIVITY;LIPOPROTEIN_BIOSYNTHETIC_PROCESS;NEGATIVE_REGULATION_OF_SECRETION;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;CYTOKINE_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_PROTEIN_SECRETION;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PROTEIN_STABILITY;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;RESPONSE_TO_ORGANIC_SUBSTANCE	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	PROTEIN_HOMODIMERIZATION_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;IDENTICAL_PROTEIN_BINDING;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_PPAR_SIGNALING_PATHWAY	.	BIOCARTA_PPARA_PATHWAY	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	
L	1	161192845	rs776675749	CCACACACACACACA	C	196.56	PASS	APOA2	apolipoprotein A-II	splicing	NM_001643	.	.	.	ENST00000470459.2,ENST00000463812.1,ENST00000464492.1,ENST00000491350.1,ENST00000468465.1,ENST00000367990.3	.	1q23.3	.	.	.	.	Score=351;Name="275299:(CA)n(Simple_repeat)"	rs776675749	.	.	.	.	.	.	0.0182	0.0403	.	0.00869565	.	.	.	.	.	.	.	.	.	.	0.187013,5.007	.	AC=22,10,2,9,4,1;AN=50;DP4=17,22,276,556;DP=1549;HOB=0.5;ICB=1;IDV=42;IMF=0.646154;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693144;VDB=0.0246119	GT:DP:DV:PL	1/5:39:39:255,255,231,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/3:35:34:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:30:30:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:34:34:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:31:31:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:26:25:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:37:37:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:31:31:255,255,255,.,.,.,.,.,.,.,255,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:38:38:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:35:34:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:29:29:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:24:24:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:52:51:255,196,93,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/2:29:29:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:34:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:41:41:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:24:24:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:34:34:255,255,255,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:34:34:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:36:19:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:50:46:255,.,.,201,.,230,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:9:9:255,104,86,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255	1/5:61:61:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	1/5:46:44:255,225,160,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.	CCACACACACACACACACACACACACACACACACACACAC	CCACACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACACAC,CCACACACACACACACACACACACACACACAC,CCACACACACACACACACACACACAC	0	25	Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial, modifier of}, 143890 (3)	.	.	.	12738753|12522687|8248186|6433912|6403543|6095840|6089788|3136074|2995928|2989800|2894758|2858663|2500391|2415515|2107739|1301170	REGULATION_OF_BIOLOGICAL_QUALITY;POSITIVE_REGULATION_OF_TRANSLATION;PROTEIN_FOLDING;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_HYDROLASE_ACTIVITY;REGULATION_OF_SECRETION;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;NEGATIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;REGULATION_OF_CYTOKINE_SECRETION;REGULATION_OF_MOLECULAR_FUNCTION;RESPONSE_TO_ENDOGENOUS_STIMULUS;SECRETION_BY_CELL;NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY;BIOSYNTHETIC_PROCESS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;LIPID_TRANSPORT;POSITIVE_REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;CYTOKINE_METABOLIC_PROCESS;REGULATION_OF_TRANSLATION;INTERLEUKIN_8_BIOSYNTHETIC_PROCESS;PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RESPONSE_TO_CARBOHYDRATE_STIMULUS;CYTOKINE_PRODUCTION;LIPOPROTEIN_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;IMMUNE_EFFECTOR_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;INTERLEUKIN_8_PRODUCTION;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;IMMUNE_RESPONSE;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;LIPID_HOMEOSTASIS;PROTEIN_SECRETION;MACROMOLECULE_LOCALIZATION;MACROMOLECULE_BIOSYNTHETIC_PROCESS;TRANSPORT;HOMEOSTATIC_PROCESS;SECRETION;REGULATION_OF_CATALYTIC_ACTIVITY;LIPOPROTEIN_BIOSYNTHETIC_PROCESS;NEGATIVE_REGULATION_OF_SECRETION;PROTEIN_METABOLIC_PROCESS;IMMUNE_SYSTEM_PROCESS;CYTOKINE_BIOSYNTHETIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;CHEMICAL_HOMEOSTASIS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CATALYTIC_ACTIVITY;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSLATION;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_PROTEIN_SECRETION;PROTEIN_LOCALIZATION;CYTOKINE_SECRETION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_PROTEIN_STABILITY;REGULATION_OF_CYTOKINE_BIOSYNTHETIC_PROCESS;RESPONSE_TO_ORGANIC_SUBSTANCE	EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_SPACE	PROTEIN_HOMODIMERIZATION_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;IDENTICAL_PROTEIN_BINDING;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PROTEIN_HETERODIMERIZATION_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY	KEGG_PPAR_SIGNALING_PATHWAY	.	BIOCARTA_PPARA_PATHWAY	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_LIPID_DIGESTION_MOBILIZATION_AND_TRANSPORT;REACTOME_LIPOPROTEIN_METABOLISM;REACTOME_CHYLOMICRON_MEDIATED_LIPID_TRANSPORT	
L	1	168262522	rs745434987	AGTGT	A	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	.	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	Score=378;Name="288030:(TG)n(Simple_repeat)"	rs745434987	.	.	.	.	.	.	0.0074	0.0028	.	0.00434783	.	.	.	.	.	.	.	.	.	.	2.273416,13.56	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	
H	1	168262522	.	A	AGTGTGTGTGTGT	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	NM_005149:exon3:c.603+6->GTGTGTGTGTGT	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	PM2
H	1	168262522	rs746838916	A	AGTGT	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	NM_005149:exon3:c.603+6->GTGT	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	.	rs746838916	.	.	.	.	.	.	0.0333	0.0212	.	0.0956522	.	.	.	.	.	.	.	.	.	.	2.118285,13.04	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	
L	1	168262522	.	AGTGTGTGT	A	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	.	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	Score=378;Name="288030:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	2.489113,14.28	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	
H	1	168262522	rs746838916	A	AGTGTGT	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	NM_005149:exon3:c.603+6->GTGTGT	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	.	rs746838916	.	.	.	.	.	.	0.0050	0.0024	.	0.0173913	.	.	.	.	.	.	.	.	.	.	2.100958,12.98	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	
L	1	168262522	.	AGTGTGT	A	83.49	PASS	TBX19	T-box 19	splicing	NM_005149	.	.	.	ENST00000367821.3	.	1q24.2	.	.	.	.	Score=378;Name="288030:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.293906,13.63	.	AC=19,1,1,5,2,1,1;AN=40;DP4=6,15,24,60;DP=283;HOB=0.5;ICB=1;IDV=3;IMF=0.214286;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,7,9,10,12,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.200927	GT:DP:DV:PL	0/4:6:5:139,.,.,.,.,.,.,.,.,.,17,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/6:3:2:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,12,.,.,.,.,.,.,.,.	1/1:3:3:73,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:79,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:4:87,0,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:105,0,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:6:183,0,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:5:3:79,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,61	.	1/4:5:5:215,114,105,.,.,.,.,.,.,.,111,0,.,.,105,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:6:5:208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:10:5:86,.,.,.,.,.,.,.,.,.,0,.,.,.,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:176,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:90,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:4:93,9,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:7:101,22,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:126,.,.,.,.,.,.,.,.,.,37,.,.,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:191,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:5:3:78,0,24,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:4:4:105,.,.,54,.,51,54,.,0,51,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:4:130,92,100,.,.,.,.,.,.,.,.,.,.,.,.,30,0,.,.,.,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	7	13	Adrenocorticotropic hormone deficiency, 201400 (3)	.	.	.	17652218|15476446|12668595|11290323|9888994|2830787	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	.	.	.	.	PM2
H	1	186276876	.	CACCCCTAAGGAGCCTGCTCCAACT	C	139	PASS	PRG4	proteoglycan 4	exonic	NM_001127708,NM_001127709,NM_001127710,NM_001303232,NM_005807	.	nonframeshift deletion	PRG4:NM_001127710:exon4:c.1624_1647del:p.542_549del,PRG4:NM_001127709:exon5:c.1747_1770del:p.583_590del,PRG4:NM_001127708:exon6:c.1903_1926del:p.635_642del,PRG4:NM_001303232:exon6:c.1897_1920del:p.633_640del,PRG4:NM_005807:exon7:c.2026_2049del:p.676_683del	ENST00000367486.3,ENST00000367484.3,ENST00000367483.4,ENST00000445192.2,ENST00000367485.4	.	1q31.1	.	.	Score=980;Name=V$EN1_01	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=0,0,13,1;DP=110;IDV=2;IMF=0.0181818;MQ0F=0;MQ=56;MQSB=1;SF=20;SGB=-0.686358;VDB=0.0688147	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:14:14:166,42,0	.	.	.	.	CACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGACTGCTCCAACTACCCCTAA	CACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGCCTGCTCCAACTACCCCTAAGGAGACTGCTCCAACTACCCCTAA	1	0	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)	.	.	.	17404241|15719068|14976050|11124536|10743795|10545950|9920774|9550484	CELL_PROLIFERATION_GO_0008283	.	.	.	.	.	.	PM4
H	1	196251495	rs550636021	TAAAC	T	32.27	PASS	KCNT2	potassium channel, sodium activated subfamily T, member 2	splicing	NM_001287819,NM_001287820,NM_198503	.	.	.	ENST00000609185.1,ENST00000294725.9,ENST00000367431.4,ENST00000367433.5,ENST00000498426.1,ENST00000451324.2	.	1q31.3	.	.	.	.	.	rs550636021	.	.	0.00332226	0.002	0.000998403	0.0007	0.0004	0.0036	0.00229708830015	0.00332226	.	.	.	.	.	.	.	.	.	.	3.162418,16.58	.	AC=1;AN=2;DP4=2,2,1,1;DP=10;HOB=0.5;ICB=1;IDV=2;IMF=0.2;MQ0F=0;MQ=60;MQSB=0.861511;SF=20;SGB=-0.453602;VDB=0.0744703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:6:2:66,0,161	.	.	.	.	TAAACAAACAAACAA	TAAACAAACAA	0	1	Potassium channel, subfamily T, member 2	.	.	.	14684870	.	.	.	.	.	.	.	
L	1	201837934	rs546621212	C	CGT	195.09	PASS	IPO9	importin 9	splicing	NM_018085	NM_018085:exon16:c.2004+10->GT	.	.	ENST00000361565.4	.	1q32.1	.	.	.	.	.	rs546621212	.	.	0.013289	0.0119	0.0117812	.	0.0130	0.0070	0.00426136	0.0108172823317	.	.	.	.	.	.	.	.	.	.	-0.334315,2.416	.	AC=22,2;AN=42;DP4=234,119,259,235;DP=1149;HOB=0.5;ICB=1;IDV=18;IMF=0.315789;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,10,11,12,13,14,16,17,18,19,20,22,23,24;SGB=-0.692067;VDB=0.0467103	GT:DP:DV:PL	0/1:41:20:255,0,255,.,.,.	0/1:22:12:186,0,196,.,.,.	0/1:38:22:255,0,255,.,.,.	0/1:51:37:255,0,255,.,.,.	.	0/2:51:12:70,.,.,0,.,255	0/2:34:6:81,.,.,0,.,255	0/1:37:23:255,0,255,.,.,.	0/1:38:22:255,0,255,.,.,.	.	0/1:48:25:255,0,255,.,.,.	1/1:47:47:255,132,0,.,.,.	0/1:37:18:255,0,255,.,.,.	0/1:55:31:255,0,255,.,.,.	0/1:36:10:108,0,255,.,.,.	.	0/1:49:27:255,0,255,.,.,.	0/1:29:16:255,0,255,.,.,.	1/1:36:35:255,52,0,.,.,.	0/1:37:24:255,0,246,.,.,.	0/1:33:20:255,0,227,.,.,.	.	1/1:27:27:255,78,0,.,.,.	0/1:61:39:255,0,255,.,.,.	0/1:40:21:255,0,255,.,.,.	CGTGTGTGTGTGTGTGTGTGTGTG	CGTGTGTGTGTGTGTGTGTGTG,CGTGTGTGTGTGTGTGTGTGTGTGTG	3	18	.	.	.	.		.	CYTOPLASM	RAS_GTPASE_BINDING;PROTEIN_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;SMALL_GTPASE_BINDING;GTPASE_BINDING;ENZYME_BINDING	.	.	.	.	
L	1	209605636	rs766738965	TAGCAGCAGCAGCAGC	T	212.76	PASS	MIR205HG	MIR205 host gene	exonic	NM_001104548	.	nonframeshift deletion	MIR205HG:NM_001104548:exon4:c.252_266del:p.84_89del	.	.	1q32.2	.	.	.	.	Score=360;Name="360744:(CAG)n(Simple_repeat)"	rs766738965	.	.	.	.	.	.	0.0122	0.0127	.	.	.	.	.	.	.	.	.	.	.	.	1.168111,9.753	.	AC=37,3,1;AN=50;DP4=33,71,146,362;DP=978;HOB=0.5;ICB=1;IDV=27;IMF=0.519231;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692914;VDB=0.00270279	GT:DP:DV:PL	1/2:25:25:255,112,43,255,0,255,.,.,.,.	0/1:24:12:255,0,255,.,.,.,.,.,.,.	1/2:22:22:255,106,46,255,0,255,.,.,.,.	0/1:18:9:255,0,255,.,.,.,.,.,.,.	0/1:23:9:248,0,255,.,.,.,.,.,.,.	1/1:38:38:255,114,0,.,.,.,.,.,.,.	1/1:36:35:255,86,0,.,.,.,.,.,.,.	0/1:25:11:255,0,255,.,.,.,.,.,.,.	1/1:18:18:255,54,0,.,.,.,.,.,.,.	1/1:13:13:255,39,0,.,.,.,.,.,.,.	1/2:27:27:255,114,39,255,0,255,.,.,.,.	1/1:32:32:255,93,0,.,.,.,.,.,.,.	1/1:26:26:255,75,0,.,.,.,.,.,.,.	0/1:29:20:255,0,255,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	1/3:19:19:255,255,255,.,.,.,255,0,.,255	1/1:21:21:255,60,0,.,.,.,.,.,.,.	0/1:22:10:255,0,255,.,.,.,.,.,.,.	0/1:22:9:255,0,255,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	0/1:30:18:255,0,255,.,.,.,.,.,.,.	1/1:26:26:255,78,0,.,.,.,.,.,.,.	0/1:10:2:81,0,255,.,.,.,.,.,.,.	1/1:40:40:255,117,0,.,.,.,.,.,.,.	1/1:22:22:255,63,0,.,.,.,.,.,.,.	TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TAGCAGCAGCAGCAGCAGCAGCAGCA,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	12	13	.	.	.	.		.	.	.	.	.	.	.	
H	1	223949949	.	GA	G	178	PASS	CAPN2	calpain 2, (m/II) large subunit	exonic	NM_001146068,NM_001748	.	frameshift deletion	CAPN2:NM_001146068:exon14:c.1395delA:p.G465fs,CAPN2:NM_001748:exon14:c.1629delA:p.G543fs	ENST00000433674.2,ENST00000474026.1,ENST00000295006.5	.	1q41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=12,5,9,4;DP=37;HOB=0.5;ICB=1;IDV=14;IMF=0.378378;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.683931;VDB=0.226598	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:30:13:211,0,255	.	.	.	.	GA	G	0	1	Calpain, large polypeptide L2	.	.	.	19342550|19020623|19020622|14559243|12150984|12070670|9562261|2852952|2209092	.	.	.	KEGG_APOPTOSIS;KEGG_FOCAL_ADHESION;KEGG_ALZHEIMERS_DISEASE	PID_ERBB1_DOWNSTREAM_PATHWAY;PID_FAK_PATHWAY	BIOCARTA_MCALPAIN_PATHWAY;BIOCARTA_MEF2D_PATHWAY	.	PM2
H	1	225707033	.	A	ATCCAGGCGTTCCTGCCGC	182.8	PASS	ENAH	enabled homolog (Drosophila)	exonic	NM_001008493,NM_018212	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.668_669insGCGGCAGGAACGCCTGGA:p.D223delinsERQERLD,ENAH:NM_018212:exon5:c.668_669insGCGGCAGGAACGCCTGGA:p.D223delinsERQERLD	ENST00000391874.2,ENST00000366843.2,ENST00000284563.6,ENST00000366844.3	.	1q42.12	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0007	0.00142045	0.026087	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,6;AN=10;DP4=0,0,11,18;DP=831;IDV=26;IMF=0.140541;MQ0F=0;MQ=60;MQSB=1;SF=5,10,20,21,24;SGB=-0.616816;VDB=0.00107727	GT:DP:DV:PL	.	.	.	.	.	2/2:6:6:157,.,.,18,.,0	.	.	.	.	1/1:5:5:246,15,0,.,.,.	.	.	.	.	.	.	.	.	.	1/1:6:6:255,18,0,.,.,.	2/2:8:8:210,.,.,24,.,0	.	.	2/2:4:4:181,.,.,12,.,0	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG,ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG	5	0	Enabled, Drosophila, homolog of	.	.	.	19081071|16494957|12672821|9407065|1420303	.	.	.	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ECADHERIN_NASCENTAJ_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TCR_SIGNALING;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PM4
H	1	225707033	rs566336314	ATCCAGGCGTTCCTGCCGC	A	182.8	PASS	ENAH	enabled homolog (Drosophila)	exonic	NM_001008493,NM_018212	.	nonframeshift deletion	ENAH:NM_001008493:exon5:c.651_668del:p.217_223del,ENAH:NM_018212:exon5:c.651_668del:p.217_223del	ENST00000391874.2,ENST00000366843.2,ENST00000284563.6,ENST00000366844.3	.	1q42.12	.	.	.	.	.	rs566336314	.	.	.	.	.	.	0.0064	0.0020	0.00994318	0.0347826	.	.	.	.	.	.	.	.	.	.	2.035087,12.76	.	AC=4,6;AN=10;DP4=0,0,11,18;DP=831;IDV=26;IMF=0.140541;MQ0F=0;MQ=60;MQSB=1;SF=5,10,20,21,24;SGB=-0.616816;VDB=0.00107727	GT:DP:DV:PL	.	.	.	.	.	2/2:6:6:157,.,.,18,.,0	.	.	.	.	1/1:5:5:246,15,0,.,.,.	.	.	.	.	.	.	.	.	.	1/1:6:6:255,18,0,.,.,.	2/2:8:8:210,.,.,24,.,0	.	.	2/2:4:4:181,.,.,12,.,0	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG,ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCG	5	0	Enabled, Drosophila, homolog of	.	.	.	19081071|16494957|12672821|9407065|1420303	.	.	.	KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ECADHERIN_NASCENTAJ_PATHWAY;PID_ECADHERIN_STABILIZATION_PATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TCR_SIGNALING;REACTOME_GENERATION_OF_SECOND_MESSENGER_MOLECULES;REACTOME_AXON_GUIDANCE;REACTOME_SIGNALING_BY_ROBO_RECEPTOR;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PM4
L	2	10269164	.	C	CT	219	PASS	RRM2	ribonucleotide reductase M2	splicing	NM_001034,NM_001165931	NM_001034:exon9:c.904-4->T;NM_001165931:exon9:c.1084-4->T	.	.	ENST00000360566.2,ENST00000304567.5	.	2p25.1	.	.	.	Score=0.943182;Name=chrX:44166615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=7,6,8,6;DP=32;HOB=0.5;ICB=1;IDV=17;IMF=0.53125;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.686358;VDB=0.653906	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:14:252,0,195	.	.	.	.	CT	CTT	0	1	Ribonucleotide reductase, M2 polypeptide	.	.	.	15616564|8188248|3311968|1627826	.	.	.	KEGG_PURINE_METABOLISM;KEGG_PYRIMIDINE_METABOLISM;KEGG_GLUTATHIONE_METABOLISM;KEGG_P53_SIGNALING_PATHWAY	PID_E2F_PATHWAY	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_METABOLISM_OF_NUCLEOTIDES;REACTOME_G1_S_TRANSITION;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_SYNTHESIS_AND_INTERCONVERSION_OF_NUCLEOTIDE_DI_AND_TRIPHOSPHATES;REACTOME_E2F_MEDIATED_REGULATION_OF_DNA_REPLICATION;REACTOME_G1_S_SPECIFIC_TRANSCRIPTION	PM2
H	2	50574008	.	G	GCGC	214.75	PASS	NRXN1	neurexin 1	exonic	NM_138735	.	nonframeshift insertion	NRXN1:NM_138735:exon1:c.79_80insGCG:p.A27delinsGA	ENST00000406859.3,ENST00000331040.5,ENST00000405472.3,ENST00000406316.2,ENST00000404971.1,ENST00000402717.3,ENST00000401669.2,ENST00000401710.1,ENST00000342183.5	.	2p16.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627332,7.374	.	AC=2,2,1;AN=8;DP4=15,27,18,59;DP=173;HOB=0.5;ICB=1;IDV=12;IMF=0.24;MQ0F=0;MQ=60;MQSB=1;SF=10,11,17,20;SGB=-0.683931;VDB=0.0304703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/2:38:13:255,.,.,0,.,255,.,.,.,.	0/3:23:12:255,.,.,.,.,.,0,.,.,255	.	.	.	.	.	0/1:19:13:255,0,126,.,.,.,.,.,.,.	.	.	2/1:39:39:255,255,255,255,0,255,.,.,.,.	.	.	.	.	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCC	0	4	Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia, susceptibility to, 17}, 614332 (3)	.	.	.	23495017|23472757|22859820|22617343|21964664|21424692|19896112|19822762|18945720|18812509|18369103|18179900|18093522|18057082|17989066|15797875|15620359|12827191|12036300|11944992|9921901|9628581|9448462|9430716|7736595|7695896|1621094	AXON_GUIDANCE;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELL_MIGRATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	PM2,PM4
L	2	50574008	rs751162302	GCGCCGCCGCCGC	G	214.75	PASS	NRXN1	neurexin 1	exonic	NM_138735	.	nonframeshift deletion	NRXN1:NM_138735:exon1:c.68_79del:p.23_27del	ENST00000406859.3,ENST00000331040.5,ENST00000405472.3,ENST00000406316.2,ENST00000404971.1,ENST00000402717.3,ENST00000401669.2,ENST00000401710.1,ENST00000342183.5	.	2p16.3	.	.	.	.	Score=282;Name="2325095:(CCG)n(Simple_repeat)"	rs751162302	.	.	.	.	.	.	3.47e-05	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2,2,1;AN=8;DP4=15,27,18,59;DP=173;HOB=0.5;ICB=1;IDV=12;IMF=0.24;MQ0F=0;MQ=60;MQSB=1;SF=10,11,17,20;SGB=-0.683931;VDB=0.0304703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/2:38:13:255,.,.,0,.,255,.,.,.,.	0/3:23:12:255,.,.,.,.,.,0,.,.,255	.	.	.	.	.	0/1:19:13:255,0,126,.,.,.,.,.,.,.	.	.	2/1:39:39:255,255,255,255,0,255,.,.,.,.	.	.	.	.	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCC	0	4	Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia, susceptibility to, 17}, 614332 (3)	.	.	.	23495017|23472757|22859820|22617343|21964664|21424692|19896112|19822762|18945720|18812509|18369103|18179900|18093522|18057082|17989066|15797875|15620359|12827191|12036300|11944992|9921901|9628581|9448462|9430716|7736595|7695896|1621094	AXON_GUIDANCE;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELL_MIGRATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	
L	2	50574008	rs776077507	GCGCCGCCGCCGCCGC	G	214.75	PASS	NRXN1	neurexin 1	exonic	NM_138735	.	nonframeshift deletion	NRXN1:NM_138735:exon1:c.65_79del:p.22_27del	ENST00000406859.3,ENST00000331040.5,ENST00000405472.3,ENST00000406316.2,ENST00000404971.1,ENST00000402717.3,ENST00000401669.2,ENST00000401710.1,ENST00000342183.5	.	2p16.3	.	.	.	.	Score=282;Name="2325095:(CCG)n(Simple_repeat)"	rs776077507	.	.	.	.	.	0.0244	0.0016	0	.	0.00869565	.	.	.	.	.	.	.	.	.	.	0.646001,7.468	.	AC=2,2,1;AN=8;DP4=15,27,18,59;DP=173;HOB=0.5;ICB=1;IDV=12;IMF=0.24;MQ0F=0;MQ=60;MQSB=1;SF=10,11,17,20;SGB=-0.683931;VDB=0.0304703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/2:38:13:255,.,.,0,.,255,.,.,.,.	0/3:23:12:255,.,.,.,.,.,0,.,.,255	.	.	.	.	.	0/1:19:13:255,0,126,.,.,.,.,.,.,.	.	.	2/1:39:39:255,255,255,255,0,255,.,.,.,.	.	.	.	.	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	GCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCCGCC,GCGCCGCCGCCGCCGCC	0	4	Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia, susceptibility to, 17}, 614332 (3)	.	.	.	23495017|23472757|22859820|22617343|21964664|21424692|19896112|19822762|18945720|18812509|18369103|18179900|18093522|18057082|17989066|15797875|15620359|12827191|12036300|11944992|9921901|9628581|9448462|9430716|7736595|7695896|1621094	AXON_GUIDANCE;SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;NEURITE_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;CELL_MIGRATION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	.	
H	2	61389995	rs769157049	TAA	T	222	PASS	C2orf74	chromosome 2 open reading frame 74	exonic	NM_001143959	.	frameshift deletion	C2orf74:NM_001143959:exon2:c.136_137del:p.K46fs	ENST00000426997.1,ENST00000432605.1	.	2p15	.	.	.	.	.	rs769157049	.	.	.	.	.	.	4.523e-05	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=14,5,7,5;DP=35;HOB=0.5;ICB=1;IDV=12;IMF=0.342857;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.680642;VDB=0.417697	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:12:255,0,255	.	.	.	.	TAAA	TA	0	1	.	.	.	.		.	.	.	.	.	.	.	
H	2	73613031	.	T	TGGAGGA	200.96	PASS	ALMS1	Alstrom syndrome protein 1	exonic	NM_015120	.	nonframeshift insertion	ALMS1:NM_015120:exon1:c.35_36insGGAGGA:p.L12delinsLEE	ENST00000377715.1,ENST00000264448.6,ENST00000409009.1	CpG: 99	2p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0869565	.	.	.	.	.	.	.	.	.	.	1.999358,12.64	.	AC=23,5,9,1,2,2;AN=50;DP4=40,2,323,43;DP=459;HOB=0.5;ICB=1;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.0270917	GT:DP:DV:PL	0/5:11:3:95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,223,.,.,.,.,.,.,.	0/1:16:14:255,7,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:26:16:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,0,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:14:14:255,208,181,.,.,.,255,0,.,249,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:15:8:177,0,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:242,0,69,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:17:255,212,239,.,.,.,.,.,.,.,221,0,.,.,250,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:13:255,0,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:16:15:255,193,225,.,.,.,201,0,.,233,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:10:255,0,13,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:27:27:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,219,.,.,.,.,.,.,.	3/6:14:14:255,.,.,.,.,.,83,.,.,47,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:16:255,4,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:18:18:255,.,.,255,.,255,255,.,0,244,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:22:21:255,210,218,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,60,95,171,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:17:17:255,.,.,.,.,.,106,.,.,60,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:16:16:255,.,.,48,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:23:22:255,255,255,225,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:11:11:255,.,.,.,.,.,33,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:11:255,0,88,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	7	18	Alstrom syndrome, 203800 (3)	.	.	.	21901789|21877133|17850632|17594715|17206865|16000322|11941370|11941369|10598815|9921899|9409865|9205841|9063741	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	PM4
L	2	73613031	rs765941914	TGGAGGAGGAGGAGGA	T	200.96	PASS	ALMS1	Alstrom syndrome protein 1	exonic	NM_015120	.	nonframeshift deletion	ALMS1:NM_015120:exon1:c.36_50del:p.12_17del	ENST00000377715.1,ENST00000264448.6,ENST00000409009.1	CpG: 99	2p13.1	.	.	.	.	Score=429;Name="2366088:(GGA)n(Simple_repeat)"	rs765941914	.	.	.	.	.	.	0.0129	0	.	.	.	.	.	.	.	.	.	.	.	.	1.962746,12.52	.	AC=23,5,9,1,2,2;AN=50;DP4=40,2,323,43;DP=459;HOB=0.5;ICB=1;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.0270917	GT:DP:DV:PL	0/5:11:3:95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,223,.,.,.,.,.,.,.	0/1:16:14:255,7,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:26:16:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,0,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:14:14:255,208,181,.,.,.,255,0,.,249,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:15:8:177,0,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:242,0,69,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:17:255,212,239,.,.,.,.,.,.,.,221,0,.,.,250,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:13:255,0,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:16:15:255,193,225,.,.,.,201,0,.,233,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:10:255,0,13,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:27:27:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,219,.,.,.,.,.,.,.	3/6:14:14:255,.,.,.,.,.,83,.,.,47,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:16:255,4,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:18:18:255,.,.,255,.,255,255,.,0,244,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:22:21:255,210,218,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,60,95,171,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:17:17:255,.,.,.,.,.,106,.,.,60,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:16:16:255,.,.,48,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:23:22:255,255,255,225,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:11:11:255,.,.,.,.,.,33,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:11:255,0,88,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	7	18	Alstrom syndrome, 203800 (3)	.	.	.	21901789|21877133|17850632|17594715|17206865|16000322|11941370|11941369|10598815|9921899|9409865|9205841|9063741	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	PM2
L	2	73613031	rs70965731	TGGA	T	200.96	PASS	ALMS1	Alstrom syndrome protein 1	exonic	NM_015120	.	nonframeshift deletion	ALMS1:NM_015120:exon1:c.36_38del:p.12_13del	ENST00000377715.1,ENST00000264448.6,ENST00000409009.1	CpG: 99	2p13.1	.	.	.	.	Score=429;Name="2366088:(GGA)n(Simple_repeat)"	rs70965731	CLINSIG=Likely benign|Benign;CLNDBN=not_specified|Alstrom_syndrome;CLNACC=RCV000173443.1|RCV000205134.1;CLNDSDB=MedGen|MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=CN169374|C0268425:203800:64:63702009	.	.	.	.	.	0.0272	0.0278	.	0.0347826	.	.	.	.	.	.	.	.	.	.	1.982341,12.59	.	AC=23,5,9,1,2,2;AN=50;DP4=40,2,323,43;DP=459;HOB=0.5;ICB=1;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.0270917	GT:DP:DV:PL	0/5:11:3:95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,223,.,.,.,.,.,.,.	0/1:16:14:255,7,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:26:16:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,0,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:14:14:255,208,181,.,.,.,255,0,.,249,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:15:8:177,0,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:242,0,69,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:17:255,212,239,.,.,.,.,.,.,.,221,0,.,.,250,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:13:255,0,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:16:15:255,193,225,.,.,.,201,0,.,233,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:10:255,0,13,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:27:27:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,219,.,.,.,.,.,.,.	3/6:14:14:255,.,.,.,.,.,83,.,.,47,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:16:255,4,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:18:18:255,.,.,255,.,255,255,.,0,244,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:22:21:255,210,218,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,60,95,171,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:17:17:255,.,.,.,.,.,106,.,.,60,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:16:16:255,.,.,48,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:23:22:255,255,255,225,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:11:11:255,.,.,.,.,.,33,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:11:255,0,88,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	7	18	Alstrom syndrome, 203800 (3)	.	.	.	21901789|21877133|17850632|17594715|17206865|16000322|11941370|11941369|10598815|9921899|9409865|9205841|9063741	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	BP6
L	2	73613031	rs776315417	TGGAGGAGGA	T	200.96	PASS	ALMS1	Alstrom syndrome protein 1	exonic	NM_015120	.	nonframeshift deletion	ALMS1:NM_015120:exon1:c.36_44del:p.12_15del	ENST00000377715.1,ENST00000264448.6,ENST00000409009.1	CpG: 99	2p13.1	.	.	.	.	Score=429;Name="2366088:(GGA)n(Simple_repeat)"	rs776315417	CLINSIG=Benign;CLNDBN=Alstrom_syndrome;CLNACC=RCV000204411.1;CLNDSDB=MedGen:OMIM:ORPHA:SNOMED_CT;CLNDSDBID=C0268425:203800:64:63702009	.	.	.	.	.	0.0384	0.0278	.	.	.	.	.	.	.	.	.	.	.	.	2.014726,12.69	.	AC=23,5,9,1,2,2;AN=50;DP4=40,2,323,43;DP=459;HOB=0.5;ICB=1;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.511536;VDB=0.0270917	GT:DP:DV:PL	0/5:11:3:95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,223,.,.,.,.,.,.,.	0/1:16:14:255,7,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:26:16:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,0,3,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:14:14:255,208,181,.,.,.,255,0,.,249,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:15:8:177,0,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:9:7:242,0,69,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:18:17:255,212,239,.,.,.,.,.,.,.,221,0,.,.,250,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:13:255,0,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:16:15:255,193,225,.,.,.,201,0,.,233,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:10:255,0,13,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:27:27:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,219,.,.,.,.,.,.,.	3/6:14:14:255,.,.,.,.,.,83,.,.,47,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:16:255,4,12,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:18:18:255,.,.,255,.,255,255,.,0,244,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:22:21:255,210,218,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:19:18:255,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,60,95,171,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:17:17:255,.,.,.,.,.,106,.,.,60,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:16:16:255,.,.,48,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:23:22:255,255,255,225,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:11:11:255,.,.,.,.,.,33,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:14:11:255,0,88,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	7	18	Alstrom syndrome, 203800 (3)	.	.	.	21901789|21877133|17850632|17594715|17206865|16000322|11941370|11941369|10598815|9921899|9409865|9205841|9063741	.	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	REACTOME_CELL_CYCLE;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_RECRUITMENT_OF_MITOTIC_CENTROSOME_PROTEINS_AND_COMPLEXES;REACTOME_LOSS_OF_NLP_FROM_MITOTIC_CENTROSOMES;REACTOME_MITOTIC_G2_G2_M_PHASES	BP6
H	2	74642265	rs768089535	A	ACGCGGAGGGGCGGGTGGCGCCGCC	221.69	PASS	C2orf81	chromosome 2 open reading frame 81	exonic	NM_001145054,NM_001316764,NM_001316765,NM_001316766	.	nonframeshift insertion	C2orf81:NM_001316766:exon2:c.753_754insGGCGGCGCCACCCGCCCCTCCGCG:p.S252delinsGGATRPSAS,C2orf81:NM_001316764:exon3:c.1038_1039insGGCGGCGCCACCCGCCCCTCCGCG:p.S347delinsGGATRPSAS,C2orf81:NM_001316765:exon3:c.891_892insGGCGGCGCCACCCGCCCCTCCGCG:p.S298delinsGGATRPSAS,C2orf81:NM_001145054:exon4:c.957_958insGGCGGCGCCACCCGCCCCTCCGCG:p.S320delinsGGATRPSAS	ENST00000517883.1,ENST00000290390.5	CpG: 117	2p13.1	.	.	.	.	.	rs768089535	.	.	.	.	.	.	0.0079	0.0395	0.301136	0.330435	.	.	.	.	.	.	.	.	.	.	0.004138,4.035	.	AC=19;AN=32;DP4=226,196,106,156;DP=1253;HOB=0.5;ICB=1;IDV=10;IMF=0.12987;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,5,6,8,9,10,11,12,13,14,16,18,20,23;SGB=-0.686358;VDB=0.00196992	GT:DP:DV:PL	.	0/1:44:14:255,0,255	0/1:58:18:255,0,255	.	0/1:42:16:255,0,255	1/1:45:45:255,135,0	0/1:40:11:255,0,255	.	0/1:35:7:245,0,255	0/1:39:12:255,0,255	0/1:68:20:255,0,255	0/1:34:10:255,0,255	1/1:22:22:255,66,0	0/1:40:12:255,0,255	0/1:53:13:255,0,255	.	1/1:20:19:255,0,0	.	0/1:35:12:255,0,255	.	0/1:43:13:255,0,255	.	.	0/1:66:18:255,0,255	.	ACGCGGAGGGGCGGGTGGCGCCGCCC	ACGCGGAGGGGCGGGTGGCGCCGCCCGCGGAGGGGCGGGTGGCGCCGCCC	3	13	.	.	.	.		.	.	.	.	.	.	.	PM4
L	2	96780974	.	T	TTCCTCAACC	168.5	PASS	ADRA2B	adrenoceptor alpha 2B	exonic	NM_000682	.	nonframeshift insertion	ADRA2B:NM_000682:exon1:c.914_915insGGTTGAGGA:p.E305delinsEVEE	ENST00000409345.3	.	2q11.1	.	.	.	.	Score=201;Name="2399455:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=46,48,91,38;DP=456;HOB=0.5;ICB=1;IDV=3;IMF=0.015544;MQ0F=0;MQ=60;MQSB=1;SF=20,23;SGB=-0.693147;VDB=0.403141	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:134:88:.,.,.,.,.,255	.	.	0/1:89:41:151,0,255,.,.,.	.	TTCCTC	TTCCTCAACCTCCTC,TACCTCCTCCTCCTC	0	2	Epilepsy, myoclonic, familial adult, 2, 607876 (3)	.	.	.	24114805|12629104|11701600|10647009|10404816|2842764|2164221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
L	2	96780974	.	T	TACCTCCTCC	168.5	PASS	ADRA2B	adrenoceptor alpha 2B	exonic	NM_000682	.	nonframeshift insertion	ADRA2B:NM_000682:exon1:c.914_915insGGAGGAGGT:p.E305delinsEEEV	ENST00000409345.3	.	2q11.1	.	.	.	.	Score=201;Name="2399455:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=46,48,91,38;DP=456;HOB=0.5;ICB=1;IDV=3;IMF=0.015544;MQ0F=0;MQ=60;MQSB=1;SF=20,23;SGB=-0.693147;VDB=0.403141	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:134:88:.,.,.,.,.,255	.	.	0/1:89:41:151,0,255,.,.,.	.	TTCCTC	TTCCTCAACCTCCTC,TACCTCCTCCTCCTC	0	2	Epilepsy, myoclonic, familial adult, 2, 607876 (3)	.	.	.	24114805|12629104|11701600|10647009|10404816|2842764|2164221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
L	2	96780986	rs34667759	C	CTCCTCT	212.55	PASS	ADRA2B	adrenoceptor alpha 2B	exonic	NM_000682	.	nonframeshift insertion	ADRA2B:NM_000682:exon1:c.902_903insAGAGGA:p.E301delinsEEE	ENST00000409345.3	.	2q11.1	.	.	.	.	Score=201;Name="2399455:(TCC)n(Simple_repeat)"	rs34667759	.	.	.	.	.	0.0064	0.0046	0.0015	0.00142045	.	.	.	.	.	.	.	.	.	.	.	0.788504,8.156	.	AC=23,7;AN=44;DP4=685,464,1179,932;DP=4225;HOB=0.5;ICB=1;IDV=34;IMF=0.208589;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000311458	GT:DP:DV:PL	0/1:129:48:255,0,255,.,.,.	0/1:110:50:255,0,255,.,.,.	0/1:142:66:255,0,255,.,.,.	0/1:96:54:255,0,255,.,.,.	.	0/1:252:120:255,0,255,.,.,.	0/1:130:64:255,0,255,.,.,.	1/2:146:145:255,255,213,255,0,255	0/1:128:53:255,0,255,.,.,.	.	0/1:164:79:255,0,255,.,.,.	1/2:100:100:255,255,195,255,0,255	1/2:124:123:255,255,211,255,0,255	0/1:178:77:255,0,255,.,.,.	0/1:165:73:255,0,255,.,.,.	0/1:126:60:255,0,255,.,.,.	0/1:137:75:255,0,255,.,.,.	.	1/2:130:130:255,255,255,255,0,255	0/1:139:73:255,0,255,.,.,.	1/1:161:161:255,255,0,.,.,.	0/1:257:114:255,0,255,.,.,.	1/2:47:47:255,221,104,255,0,255	1/2:216:216:255,255,167,255,0,255	1/2:183:183:255,255,98,255,0,255	CTCCTCCTCTTC	CTCCTCCTCTTCCTCCTCTTC,CTCCTCTTCCTCCTCTTC	1	21	Epilepsy, myoclonic, familial adult, 2, 607876 (3)	.	.	.	24114805|12629104|11701600|10647009|10404816|2842764|2164221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	
L	2	96780987	.	T	TCCTCCTCTG	222.5	PASS	ADRA2B	adrenoceptor alpha 2B	exonic	NM_000682	.	nonframeshift insertion	ADRA2B:NM_000682:exon1:c.901_902insCAGAGGAGG:p.E301delinsAEEE	ENST00000409345.3	.	2q11.1	.	.	.	.	Score=201;Name="2399455:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=5;AN=8;DP4=72,51,194,153;DP=650;HOB=0.5;ICB=1;IDV=2;IMF=0.0165289;MQ0F=0;MQ=59;MQSB=0.984515;SF=3,20,22,24;SGB=-0.693146;VDB=0.323726	GT:DP:DV:PL	.	.	.	0/1:101:43:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:150:125:255,0,8	.	0/1:44:35:255,0,68	.	1/1:175:144:255,6,0	TCCTCCTCT	TCCTCCTCTGCCTCCTCT	1	3	Epilepsy, myoclonic, familial adult, 2, 607876 (3)	.	.	.	24114805|12629104|11701600|10647009|10404816|2842764|2164221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
L	2	96780993	.	T	TCTTCCTCCA	228	PASS	ADRA2B	adrenoceptor alpha 2B	exonic	NM_000682	.	nonframeshift insertion	ADRA2B:NM_000682:exon1:c.895_896insTGGAGGAAG:p.E299delinsVEEE	ENST00000409345.3	.	2q11.1	.	.	.	.	Score=201;Name="2399455:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=8,3,74,56;DP=211;IDV=2;IMF=0.00947867;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.000167845	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:141:130:255,171,0	.	.	.	.	TCTTC	TCTTCCTCCACTTC	1	0	Epilepsy, myoclonic, familial adult, 2, 607876 (3)	.	.	.	24114805|12629104|11701600|10647009|10404816|2842764|2164221	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	AMINE_RECEPTOR_ACTIVITY;RHODOPSIN_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_A1_RHODOPSIN_LIKE_RECEPTORS;REACTOME_AMINE_LIGAND_BINDING_RECEPTORS;REACTOME_GPCR_DOWNSTREAM_SIGNALING;REACTOME_G_ALPHA_I_SIGNALLING_EVENTS;REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS;REACTOME_GPCR_LIGAND_BINDING;REACTOME_PLATELET_AGGREGATION_PLUG_FORMATION;REACTOME_HEMOSTASIS;REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION	PM2
H	2	128526579	rs143186338	T	TTAAATAAA	172.83	PASS	WDR33	WD repeat domain 33	splicing	NM_001006622,NM_001006623,NM_018383	NM_001006622:exon3:c.205-4->TTTATTTA;NM_001006623:exon3:c.205-4->TTTATTTA;NM_018383:exon3:c.205-4->TTTATTTA	.	.	ENST00000393006.1,ENST00000322313.4,ENST00000409658.3	.	2q14.3	.	.	.	.	.	rs143186338	.	.	.	.	.	.	0.0271	0.0023	.	0.0304348	.	.	.	.	.	.	.	.	.	.	1.048920,9.284	.	AC=39,1,2;AN=48;DP4=3,16,14,137;DP=302;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.064148	GT:DP:DV:PL	1/1:9:9:255,27,0,.,.,.,.,.,.,.	1/1:6:6:235,18,0,.,.,.,.,.,.,.	1/1:7:7:255,21,0,.,.,.,.,.,.,.	1/3:9:9:255,202,187,.,.,.,204,0,.,192	0/1:7:3:132,0,162,.,.,.,.,.,.,.	1/1:3:3:120,9,0,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.	0/1:3:2:101,0,18,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.	1/1:7:7:254,21,0,.,.,.,.,.,.,.	1/1:7:7:245,21,0,.,.,.,.,.,.,.	.	1/1:3:3:142,9,0,.,.,.,.,.,.,.	1/2:5:5:221,91,82,140,0,134,.,.,.,.	0/1:6:3:125,0,135,.,.,.,.,.,.,.	0/1:5:4:171,0,45,.,.,.,.,.,.,.	1/1:9:9:255,27,0,.,.,.,.,.,.,.	0/1:12:3:118,0,227,.,.,.,.,.,.,.	1/1:5:5:210,15,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	3/1:7:7:255,212,209,.,.,.,57,0,.,39	1/1:4:4:167,12,0,.,.,.,.,.,.,.	1/1:4:4:178,12,0,.,.,.,.,.,.,.	0/1:8:7:229,0,36,.,.,.,.,.,.,.	TTAAATAAATAAATAAATAAATAAATAAATAAATA	TTAAATAAATAAATAAATAAATAAATAAATAAATAAATA,TTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATA,TTAAATAAATAAATAAATAAATAAATAAATA	15	9	.	.	.	.		.	NUCLEUS	.	.	.	.	.	
L	2	187559047	rs144403657	G	GCAGCAA	225.04	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.147_148insCAGCAA:p.Q49delinsQQQ	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	rs144403657	.	.	.	.	.	.	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	-1.593640,0.014	.	AC=43,1;AN=48;DP4=61,27,872,719;DP=2330;HOB=0.5;ICB=1;IDV=45;IMF=0.511364;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24;SGB=-0.693147;VDB=0.201908	GT:DP:DV:PL	1/1:67:65:255,82,0,.,.,.	1/1:73:73:255,220,0,.,.,.	1/1:93:92:255,254,0,.,.,.	1/1:76:74:255,140,0,.,.,.	1/1:59:57:255,88,0,.,.,.	1/1:138:130:255,183,0,.,.,.	0/1:53:42:255,0,85,.,.,.	0/1:68:59:255,0,28,.,.,.	1/1:60:57:255,86,0,.,.,.	1/1:38:35:255,29,0,.,.,.	1/1:70:66:255,101,0,.,.,.	1/1:68:68:255,205,0,.,.,.	1/1:44:44:255,132,0,.,.,.	1/1:89:87:255,190,0,.,.,.	1/1:60:59:255,121,0,.,.,.	0/1:64:57:255,0,14,.,.,.	1/1:89:89:255,255,0,.,.,.	1/1:41:38:255,43,0,.,.,.	1/1:46:43:255,37,0,.,.,.	1/1:62:61:255,166,0,.,.,.	1/1:49:47:255,35,0,.,.,.	1/1:130:119:255,96,0,.,.,.	0/1:34:30:255,0,43,.,.,.	.	1/2:108:99:255,255,255,255,0,255	GCAACAACAACAACAACA	GCAACAACAACAACAACAACA,GCAGCAACAACAACAACAACAACA	19	5	.	.	.	.		.	.	.	.	.	.	.	
L	2	187559056	.	A	ACAC	220.75	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.156_157insCAC:p.Q52delinsQH	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=11,1;AN=24;DP4=138,23,292,227;DP=1146;HOB=0.5;ICB=1;IDV=2;IMF=0.0222222;MQ0F=0;MQ=60;MQSB=1;SF=0,3,5,6,9,11,12,13,15,17,19,20;SGB=-0.693147;VDB=0.075493	GT:DP:DV:PL	0/1:56:47:255,0,110,.,.,.	.	.	0/1:68:56:255,0,110,.,.,.	.	0/1:123:97:255,0,165,.,.,.	0/1:50:27:255,0,255,.,.,.	.	.	0/1:28:23:255,0,105,.,.,.	.	0/1:52:44:255,0,25,.,.,.	0/1:43:34:255,0,51,.,.,.	0/1:80:67:255,0,66,.,.,.	.	0/1:42:27:255,0,255,.,.,.	.	0/2:20:14:255,.,.,0,.,155	.	0/1:58:47:255,0,52,.,.,.	0/1:60:36:255,0,186,.,.,.	.	.	.	.	ACA	ACACCA,ACAGCA	0	12	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559056	.	A	ACAG	220.75	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.156_157insCAG:p.Q52delinsQQ	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=11,1;AN=24;DP4=138,23,292,227;DP=1146;HOB=0.5;ICB=1;IDV=2;IMF=0.0222222;MQ0F=0;MQ=60;MQSB=1;SF=0,3,5,6,9,11,12,13,15,17,19,20;SGB=-0.693147;VDB=0.075493	GT:DP:DV:PL	0/1:56:47:255,0,110,.,.,.	.	.	0/1:68:56:255,0,110,.,.,.	.	0/1:123:97:255,0,165,.,.,.	0/1:50:27:255,0,255,.,.,.	.	.	0/1:28:23:255,0,105,.,.,.	.	0/1:52:44:255,0,25,.,.,.	0/1:43:34:255,0,51,.,.,.	0/1:80:67:255,0,66,.,.,.	.	0/1:42:27:255,0,255,.,.,.	.	0/2:20:14:255,.,.,0,.,155	.	0/1:58:47:255,0,52,.,.,.	0/1:60:36:255,0,186,.,.,.	.	.	.	.	ACA	ACACCA,ACAGCA	0	12	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559059	.	A	ACAC	208.85	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.159_160insCAC:p.Q53delinsQH	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=14,1;AN=26;DP4=133,33,346,297;DP=1285;HOB=0.5;ICB=1;IDV=6;IMF=0.0652174;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,8,10,12,13,14,16,18,20;SGB=-0.693147;VDB=0.369989	GT:DP:DV:PL	.	1/1:53:47:255,17,0,.,.,.	0/1:80:68:255,0,24,.,.,.	0/1:70:58:255,0,105,.,.,.	0/2:21:7:.,.,.,.,.,255	0/1:122:97:255,0,158,.,.,.	.	.	0/1:60:46:255,0,139,.,.,.	.	0/1:56:42:255,0,184,.,.,.	.	0/1:42:35:255,0,27,.,.,.	0/1:80:66:255,0,71,.,.,.	0/1:56:47:255,0,69,.,.,.	.	1/1:64:59:255,61,0,.,.,.	.	0/1:42:32:255,0,151,.,.,.	.	0/1:63:39:255,0,164,.,.,.	.	.	.	.	ACA	ACACCA,ACCCCA	2	11	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559059	.	A	ACCC	208.85	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.159_160insCCC:p.Q53delinsQP	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=14,1;AN=26;DP4=133,33,346,297;DP=1285;HOB=0.5;ICB=1;IDV=6;IMF=0.0652174;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,8,10,12,13,14,16,18,20;SGB=-0.693147;VDB=0.369989	GT:DP:DV:PL	.	1/1:53:47:255,17,0,.,.,.	0/1:80:68:255,0,24,.,.,.	0/1:70:58:255,0,105,.,.,.	0/2:21:7:.,.,.,.,.,255	0/1:122:97:255,0,158,.,.,.	.	.	0/1:60:46:255,0,139,.,.,.	.	0/1:56:42:255,0,184,.,.,.	.	0/1:42:35:255,0,27,.,.,.	0/1:80:66:255,0,71,.,.,.	0/1:56:47:255,0,69,.,.,.	.	1/1:64:59:255,61,0,.,.,.	.	0/1:42:32:255,0,151,.,.,.	.	0/1:63:39:255,0,164,.,.,.	.	.	.	.	ACA	ACACCA,ACCCCA	2	11	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559061	.	A	AACC	220.8	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.161_162insACC:p.Q54delinsQP	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	0.00142045	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=11;AN=20;DP4=101,23,276,228;DP=1043;HOB=0.5;ICB=1;IDV=2;IMF=0.010929;MQ0F=0;MQ=60;MQSB=1;SF=5,9,10,11,12,13,14,16,20,24;SGB=-0.693147;VDB=0.15178	GT:DP:DV:PL	.	.	.	.	.	0/1:124:101:249,0,127	.	.	.	0/1:27:24:255,0,75	0/1:56:42:255,0,184	0/1:57:49:255,0,10	0/1:38:31:255,0,48	0/1:83:68:255,0,71	0/1:58:48:255,0,77	.	1/1:70:66:255,105,0	.	.	.	0/1:59:35:255,0,170	.	.	.	0/1:56:40:255,0,255	AAC	AACCAC	1	9	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559062	.	A	ACAC	224	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.162_163insCAC:p.Q54delinsQH	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=13;AN=18;DP4=81,24,241,265;DP=1063;HOB=0.5;ICB=1;IDV=4;IMF=0.0336134;MQ0F=0;MQ=60;MQSB=1;SF=2,5,8,11,12,16,20,21,24;SGB=-0.693147;VDB=0.00901467	GT:DP:DV:PL	.	.	1/1:71:65:255,51,0	.	.	0/1:122:101:255,0,113	.	.	0/1:54:45:255,0,64	.	.	1/1:58:52:255,22,0	1/1:40:35:255,16,0	.	.	.	1/1:64:63:255,161,0	.	.	.	0/1:61:39:255,0,175	0/1:81:62:255,0,255	.	.	0/1:60:44:255,0,255	ACA	ACACCA	4	5	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559064	.	A	AACC	213.5	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.164_165insACC:p.Q55delinsQP	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=12,1;AN=20;DP4=81,17,194,215;DP=930;HOB=0.5;ICB=1;IDV=2;IMF=0.0229885;MQ0F=0;MQ=60;MQSB=1;SF=0,1,8,9,12,15,16,19,20,21;SGB=-0.693147;VDB=0.0239338	GT:DP:DV:PL	0/1:52:47:255,0,31,.,.,.	1/1:53:48:255,38,0,.,.,.	.	.	.	.	.	.	0/2:31:16:162,.,.,0,.,249	0/1:30:27:255,0,67,.,.,.	.	.	1/1:39:34:255,0,0,.,.,.	.	.	0/1:42:28:255,0,255,.,.,.	1/1:61:59:255,122,0,.,.,.	.	.	0/1:53:44:255,0,43,.,.,.	0/1:59:38:255,0,161,.,.,.	0/1:87:68:255,0,255,.,.,.	.	.	.	A	AACC,ACCC	3	7	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	187559064	.	A	ACCC	213.5	PASS	FAM171B	family with sequence similarity 171, member B	exonic	NM_177454	.	nonframeshift insertion	FAM171B:NM_177454:exon1:c.164_165insCCC:p.Q55delinsHP	ENST00000304698.5,ENST00000453665.1	.	2q32.1	.	.	.	.	Score=261;Name="2550884:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=12,1;AN=20;DP4=81,17,194,215;DP=930;HOB=0.5;ICB=1;IDV=2;IMF=0.0229885;MQ0F=0;MQ=60;MQSB=1;SF=0,1,8,9,12,15,16,19,20,21;SGB=-0.693147;VDB=0.0239338	GT:DP:DV:PL	0/1:52:47:255,0,31,.,.,.	1/1:53:48:255,38,0,.,.,.	.	.	.	.	.	.	0/2:31:16:162,.,.,0,.,249	0/1:30:27:255,0,67,.,.,.	.	.	1/1:39:34:255,0,0,.,.,.	.	.	0/1:42:28:255,0,255,.,.,.	1/1:61:59:255,122,0,.,.,.	.	.	0/1:53:44:255,0,43,.,.,.	0/1:59:38:255,0,161,.,.,.	0/1:87:68:255,0,255,.,.,.	.	.	.	A	AACC,ACCC	3	7	.	.	.	.		.	.	.	.	.	.	.	PM2
L	2	202410352	.	CAAAAAAA	C	22.46	PASS	ALS2CR11	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	splicing	NM_001168216,NM_001168217,NM_001168221,NM_152525	.	.	.	ENST00000450242.1,ENST00000286195.3,ENST00000439802.1,ENST00000439140.1	.	2q33.1	.	.	.	.	Score=285;Name="2575933:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.341368,2.384	.	AC=2;AN=2;DP4=0,0,2,2;DP=7;IDV=5;IMF=0.625;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.556411;VDB=0.0107983	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:4:4:65,21,15	.	.	.	.	CAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAA	1	0	.	.	.	.		.	.	.	.	.	.	.	PM2
H	2	211320041	rs71395583	G	GAAAAA	56.56	PASS	LANCL1	LanC lantibiotic synthetase component C-like 1 (bacterial)	splicing	NM_001136574,NM_001136575,NM_006055	NM_001136574:exon4:c.200-3->TTTTT;NM_001136575:exon4:c.200-3->TTTTT;NM_006055:exon4:c.200-3->TTTTT	.	.	ENST00000441020.3,ENST00000450366.2,ENST00000233714.4,ENST00000433296.1,ENST00000443314.1,ENST00000420418.1,ENST00000431941.2	.	2q34	.	.	.	.	.	rs71395583	.	.	.	.	.	.	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	1.168405,9.755	.	AC=29,10,1;AN=40;DP4=0,1,46,162;DP=303;IDV=16;IMF=0.941176;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,7,8,9,10,11,12,14,15,16,17,18,20,21,23;SGB=-0.686358;VDB=0.106182	GT:DP:DV:PL	1/1:14:14:114,57,26,.,.,.,.,.,.,.	2/2:7:7:95,.,.,36,.,24,.,.,.,.	1/1:7:7:70,18,0,.,.,.,.,.,.,.	.	1/1:14:13:77,22,0,.,.,.,.,.,.,.	1/1:12:12:70,24,0,.,.,.,.,.,.,.	1/1:15:15:108,39,0,.,.,.,.,.,.,.	1/2:15:15:117,77,50,69,0,57,.,.,.,.	1/1:9:9:65,24,0,.,.,.,.,.,.,.	1/2:11:11:98,63,39,57,0,48,.,.,.,.	1/1:9:9:85,29,8,.,.,.,.,.,.,.	1/1:8:8:69,21,3,.,.,.,.,.,.,.	1/1:7:7:92,21,0,.,.,.,.,.,.,.	.	1/1:6:6:70,22,7,.,.,.,.,.,.,.	2/3:13:13:176,.,.,72,.,42,122,.,0,116	1/2:8:8:94,63,48,48,0,39,.,.,.,.	1/1:8:8:69,21,3,.,.,.,.,.,.,.	1/1:11:11:73,29,8,.,.,.,.,.,.,.	.	2/2:6:6:123,.,.,18,.,0,.,.,.,.	1/1:18:18:121,45,0,.,.,.,.,.,.,.	.	2/2:11:11:129,.,.,51,.,32,.,.,.,.	.	GAAAAAAAAAAAA	GAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAA	16	4	LanC-like 1 (G protein-coupled receptor 69A)	.	.	.	19528316|11474189|10944443|9512664	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_BINDING;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	
L	2	217498290	.	C	CGCCGATGCT	207.18	PASS	IGFBP2	insulin-like growth factor binding protein 2, 36kDa	exonic	NM_000597	.	nonframeshift insertion	IGFBP2:NM_000597:exon1:c.44_45insGCCGATGCT:p.P15delinsPPML	ENST00000233809.4	CpG: 104	2q35	.	.	.	.	Score=294;Name="2602614:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=42,1;AN=44;DP4=3,0,80,119;DP=334;HOB=0.5;ICB=1;IDV=8;IMF=0.5;MQ0F=0;MQ=60;MQSB=0.900802;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,14,15,16,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0178597	GT:DP:DV:PL	1/1:8:8:255,24,0,.,.,.	1/1:10:10:255,30,0,.,.,.	1/1:16:16:255,48,0,.,.,.	1/1:11:11:255,57,27,.,.,.	1/1:9:9:255,27,0,.,.,.	1/1:9:9:255,27,0,.,.,.	1/1:7:7:255,21,0,.,.,.	1/1:10:10:255,30,0,.,.,.	1/1:9:9:255,27,0,.,.,.	.	0/2:5:2:.,.,.,.,.,59	1/1:7:7:255,21,0,.,.,.	1/1:11:11:255,33,0,.,.,.	1/1:16:16:255,48,0,.,.,.	1/1:13:13:255,39,0,.,.,.	1/1:5:5:205,15,0,.,.,.	1/1:6:6:205,18,0,.,.,.	.	1/1:2:2:110,6,0,.,.,.	1/1:8:8:255,24,0,.,.,.	1/1:11:11:255,33,0,.,.,.	1/1:11:11:255,33,0,.,.,.	.	1/1:8:8:255,24,0,.,.,.	1/1:10:10:255,57,30,.,.,.	CGCCGCTGCTGCCGCTGCTGC	CGCCGCTGCTGCCGCTGCTGCCGCTGCTGC,CGCCGATGCTGCCGCTGCTGCCGCTGCTGC	21	1	Insulin-like growth factor-binding protein-2, 36kD	.	.	.	7511611|2478445|2464130|1712312|1710112	.	.	.	.	.	.	REACTOME_DIABETES_PATHWAYS;REACTOME_REGULATION_OF_INSULIN_LIKE_GROWTH_FACTOR_IGF_ACTIVITY_BY_INSULIN_LIKE_GROWTH_FACTOR_BINDING_PROTEINS_IGFBPS	PM2
L	2	233243528	rs377162921	ATGC	A	90.25	PASS	ALPP	alkaline phosphatase, placental	exonic	NM_001632	.	nonframeshift deletion	ALPP:NM_001632:exon1:c.17_19del:p.6_7del	ENST00000392027.2	.	2q37.1	.	.	.	Score=0.916371;Name=chr2:233267138	Score=207;Name="2632120:(CTG)n(Simple_repeat)"	rs377162921	.	.	.	.	.	.	0.0475	0.0378	0.015625	.	.	.	.	.	.	.	.	.	.	.	0.466286,6.531	.	AC=4,1;AN=10;DP4=224,62,68,43;DP=505;HOB=0.5;ICB=1;IDV=8;IMF=0.105263;MQ0F=0;MQ=60;MQSB=1;SF=0,2,5,6,20;SGB=-0.651104;VDB=0.0319661	GT:DP:DV:PL	0/1:63:8:95,0,255,.,.,.	.	0/1:68:8:106,0,255,.,.,.	.	.	0/2:134:81:255,.,.,0,.,255	0/1:61:6:61,0,255,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:71:8:116,0,255,.,.,.	.	.	.	.	ATGCTGCTGCTGCTGCTGCTGCTG	ATGCTGCTGCTGCTGCTGCTG,ATGCTGCTGCTGCTGCTGCTGCTGCTGCTG	0	5	Alkaline phosphatase, placental (Regan isozyme)	.	.	.	17787764|14014721|7076255|7072721|6946455|6193958|6186142|6072617|6067799|5884639|4955840|4812951|4460867|3862120|3687940|3674755|3469665|3461452|3356175|3042787|3001717|2891112|1065870|533715	.	CELL_SURFACE	.	KEGG_FOLATE_BIOSYNTHESIS	.	.	.	
L	2	233243528	rs772270142	A	ATGCTGC	90.25	PASS	ALPP	alkaline phosphatase, placental	exonic	NM_001632	.	nonframeshift insertion	ALPP:NM_001632:exon1:c.16_17insTGCTGC:p.M6delinsMLL	ENST00000392027.2	.	2q37.1	.	.	.	Score=0.916371;Name=chr2:233267138	.	rs772270142	.	.	.	.	.	.	7.319e-05	0.0009	0.00142045	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,1;AN=10;DP4=224,62,68,43;DP=505;HOB=0.5;ICB=1;IDV=8;IMF=0.105263;MQ0F=0;MQ=60;MQSB=1;SF=0,2,5,6,20;SGB=-0.651104;VDB=0.0319661	GT:DP:DV:PL	0/1:63:8:95,0,255,.,.,.	.	0/1:68:8:106,0,255,.,.,.	.	.	0/2:134:81:255,.,.,0,.,255	0/1:61:6:61,0,255,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:71:8:116,0,255,.,.,.	.	.	.	.	ATGCTGCTGCTGCTGCTGCTGCTG	ATGCTGCTGCTGCTGCTGCTG,ATGCTGCTGCTGCTGCTGCTGCTGCTGCTG	0	5	Alkaline phosphatase, placental (Regan isozyme)	.	.	.	17787764|14014721|7076255|7072721|6946455|6193958|6186142|6072617|6067799|5884639|4955840|4812951|4460867|3862120|3687940|3674755|3469665|3461452|3356175|3042787|3001717|2891112|1065870|533715	.	CELL_SURFACE	.	KEGG_FOLATE_BIOSYNTHESIS	.	.	.	PM4
L	2	233712226	.	C	CGCA	170.6	PASS	GIGYF2	GRB10 interacting GYF protein 2	exonic	NM_001103146,NM_001103147,NM_001103148,NM_015575	.	nonframeshift insertion	GIGYF2:NM_001103148:exon26:c.3611_3612insGCA:p.P1204delinsPQ,GIGYF2:NM_001103146:exon27:c.3629_3630insGCA:p.P1210delinsPQ,GIGYF2:NM_001103147:exon29:c.3692_3693insGCA:p.P1231delinsPQ,GIGYF2:NM_015575:exon29:c.3629_3630insGCA:p.P1210delinsPQ	ENST00000409480.1,ENST00000373566.3,ENST00000409196.3,ENST00000409451.3,ENST00000373563.4,ENST00000409547.1	.	2q37.1	.	.	.	.	Score=339;Name="2633131:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0391304	.	.	.	.	.	.	.	.	.	.	.	.	AC=10,22;AN=40;DP4=10,27,57,96;DP=242;HOB=0.5;ICB=1;IDV=10;IMF=0.909091;MQ0F=0;MQ=60;MQSB=1.01283;SF=0,1,2,3,4,5,8,9,10,11,12,13,14,15,16,18,20,21,22,24;SGB=-0.636426;VDB=0.347872	GT:DP:DV:PL	2/2:7:7:.,.,.,.,.,0	0/2:7:6:.,.,.,.,.,11	0/2:13:7:.,.,.,.,.,190	2/1:15:15:.,.,255,.,0,223	2/2:8:8:255,.,.,57,.,36	2/1:8:7:.,.,219,.,0,87	.	.	0/2:8:4:.,.,.,.,.,142	0/2:6:2:.,.,.,.,.,195	1/2:10:10:.,.,98,.,0,255	0/2:12:4:.,.,.,.,.,255	1/2:6:6:.,.,42,.,0,218	1/2:12:12:.,.,172,.,0,218	1/2:9:8:.,.,96,.,0,184	2/2:16:16:.,.,.,.,.,0	0/1:5:2:.,.,144,.,.,.	.	0/1:9:5:.,.,159,.,.,.	.	2/2:7:7:.,.,.,.,.,0	0/1:13:8:.,.,179,.,.,.	2/1:3:3:.,.,101,.,0,51	.	2/2:16:16:.,.,.,.,.,0	CACAGCA	CGCAACAGCA,CGCA	5	15	{Parkinson disease 11}, 607688 (3)	.	.	.	19744960|19449032|19279319|19250854|18923002|18358451|12771153|9734811|9225980	.	.	.	.	.	.	.	
L	2	241696837	.	CTCA	C	166.86	PASS	KIF1A	kinesin family member 1A	exonic	NM_001244008	.	nonframeshift deletion	KIF1A:NM_001244008:exon27:c.2754_2756del:p.918_919del	ENST00000498729.2,ENST00000320389.7	.	2q37.3	.	.	.	.	Score=405;Name="2645977:(TCC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0217391	.	.	.	.	.	.	.	.	.	.	3.176042,16.63	.	AC=19;AN=38;DP4=748,738,423,970;DP=3752;HOB=0.5;ICB=1;IDV=7;IMF=0.0419162;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,5,6,7,8,9,10,12,13,14,15,18,19,20,21,23,24;SGB=-0.693147;VDB=0.248076	GT:DP:DV:PL	0/1:132:78:255,0,255	.	.	0/1:125:76:251,0,230	0/1:132:39:160,0,255	0/1:172:97:255,0,252	0/1:152:87:235,0,240	0/1:179:50:120,0,255	0/1:133:86:255,0,245	0/1:117:70:241,0,255	0/1:135:40:113,0,255	.	0/1:150:83:255,0,255	0/1:267:156:255,0,230	0/1:188:106:255,0,255	0/1:109:61:255,0,248	.	.	0/1:128:36:59,0,255	0/1:147:84:194,0,238	0/1:137:83:255,0,250	0/1:182:41:62,0,255	.	0/1:138:71:219,0,255	0/1:156:49:117,0,255	CTCATC	CTC	0	19	Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy, hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3)	.	.	.	25265257|22258533|21820098|21487076|21376300|16434418|15479732|15286375|12891363|12351789|12015984|11373668|10660047|10323250|9548721|8661001|7539720	ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_MOVEMENT	.	.	.	.	.	.	
L	2	241696840	rs779547511	ATCCTCCTCCTCC	A	222.3	PASS	KIF1A	kinesin family member 1A	exonic	NM_001244008	.	nonframeshift deletion	KIF1A:NM_001244008:exon27:c.2742_2753del:p.914_918del	ENST00000498729.2,ENST00000320389.7	.	2q37.3	.	.	.	.	Score=405;Name="2645977:(TCC)n(Simple_repeat)"	rs779547511	.	.	.	.	.	.	0.0002	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	3.331039,17.21	.	AC=34,1,1;AN=46;DP4=154,321,619,1327;DP=4086;HOB=0.5;ICB=1;IDV=86;IMF=0.521212;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000320451	GT:DP:DV:PL	1/1:93:92:255,208,0,.,.,.,.,.,.,.	0/3:118:64:255,.,.,.,.,.,0,.,.,255	.	1/1:105:105:255,255,35,.,.,.,.,.,.,.	0/1:93:52:255,0,255,.,.,.,.,.,.,.	1/1:122:122:255,255,0,.,.,.,.,.,.,.	1/1:108:107:255,255,0,.,.,.,.,.,.,.	0/1:130:67:255,0,255,.,.,.,.,.,.,.	1/1:99:98:255,229,0,.,.,.,.,.,.,.	1/1:94:92:255,176,0,.,.,.,.,.,.,.	0/1:112:56:255,0,255,.,.,.,.,.,.,.	0/1:93:46:255,0,255,.,.,.,.,.,.,.	1/1:111:110:255,255,0,.,.,.,.,.,.,.	1/1:191:191:255,255,0,.,.,.,.,.,.,.	1/1:139:137:255,255,0,.,.,.,.,.,.,.	1/1:78:78:255,226,0,.,.,.,.,.,.,.	.	0/1:73:39:255,0,255,.,.,.,.,.,.,.	0/1:92:46:255,0,255,.,.,.,.,.,.,.	1/2:100:100:255,255,60,255,0,255,.,.,.,.	1/1:108:107:255,247,0,.,.,.,.,.,.,.	0/1:123:53:255,0,255,.,.,.,.,.,.,.	0/1:43:29:255,0,255,.,.,.,.,.,.,.	1/1:88:88:255,250,0,.,.,.,.,.,.,.	0/1:108:67:255,0,255,.,.,.,.,.,.,.	ATCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCCTCCTCCTCCTCCTCC,ATCCTCCTCCTCCTCCTCCTCCTCCTCC,ATCCTCCTCCTCCTCCTCCTCC	12	11	Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy, hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3)	.	.	.	25265257|22258533|21820098|21487076|21376300|16434418|15479732|15286375|12891363|12351789|12015984|11373668|10660047|10323250|9548721|8661001|7539720	ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_PROCESS;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CYTOSKELETON_DEPENDENT_INTRACELLULAR_TRANSPORT;MICROTUBULE_BASED_MOVEMENT	.	.	.	.	.	.	
H	3	11849376	.	G	GA	26.46	PASS	TAMM41	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	splicing	NM_001284401	NM_001284401:exon7:c.875-7->T	.	.	ENST00000273037.5,ENST00000444133.2,ENST00000455809.1	.	3p25.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=0,6,2,14;DP=24;HOB=0.5;ICB=1;IDV=16;IMF=0.666667;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.689466;VDB=0.106846	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:22:16:57,0,5	.	.	.	.	GAAAAAAA	GAAAAAAAA	0	1	Translocator assembly and maintenance, mitochondrial, S. cerevisiae, homolog of	.	.	.	19114592|16943180|16790493	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;PROTEIN_TARGETING_TO_MITOCHONDRION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;PROTEIN_IMPORT;MITOCHONDRION_ORGANIZATION_AND_BIOGENESIS;MACROMOLECULE_LOCALIZATION;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;MITOCHONDRIAL_TRANSPORT	ORGANELLE_PART;ORGANELLE_INNER_MEMBRANE;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;ORGANELLE_MEMBRANE;ENVELOPE;ORGANELLE_ENVELOPE;MITOCHONDRIAL_INNER_MEMBRANE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE;EXTRINSIC_TO_MEMBRANE;MITOCHONDRIAL_MEMBRANE_PART	.	.	.	.	.	PM2
H	3	38048433	rs564620868	T	TTCTA	222	PASS	VILL	villin-like	exonic	NM_015873	.	frameshift insertion	VILL:NM_015873:exon19:c.2458_2459insTCTA:p.F820fs	ENST00000465644.1,ENST00000383759.2,ENST00000283713.6	.	3p22.2	.	.	.	.	.	rs564620868	.	.	0.00332226	0.002	0.000599042	.	0.0002	0.0013	0.00229708830015	0.00332226	.	.	.	.	.	.	.	.	.	.	3.693445,18.76	.	AC=2;AN=4;DP4=39,29,50,40;DP=177;HOB=0.5;ICB=1;IDV=42;IMF=0.446809;MQ0F=0;MQ=60;MQSB=1;SF=7,20;SGB=-0.693146;VDB=0.120039	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:82:43:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:76:47:255,0,255	.	.	.	.	TTCTATCT	TTCTATCTATCT	0	2	.	.	.	.		.	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	STRUCTURAL_MOLECULE_ACTIVITY;STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON	.	.	.	.	
L	3	40503520	rs369485042	A	ACTGCTGCTG	201.48	PASS	RPL14	ribosomal protein L14	exonic	NM_001034996,NM_003973	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.445_446insCTGCTGCTG:p.T149delinsTAAA,RPL14:NM_003973:exon6:c.445_446insCTGCTGCTG:p.T149delinsTAAA	ENST00000416518.1,ENST00000396203.2,ENST00000338970.6	.	3p22.1	.	.	.	.	.	rs369485042	.	.	0.0282392	0.0298	0.0341454	.	.	.	0.104900703216	0.0661056591346	.	.	.	.	.	.	.	.	.	.	-0.035146,3.834	.	AC=11,14,21,3,1;AN=50;DP4=3,1,902,625;DP=2082;IDV=60;IMF=0.722892;MQ0F=0;MQ=58;MQSB=0.986155;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.19227e-08	GT:DP:DV:PL	3/1:61:61:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:59:59:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:55:55:255,.,.,151,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:57:57:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:60:60:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:113:113:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	3/3:68:66:255,.,.,.,.,.,114,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/3:54:54:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:255,163,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:42:42:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/1:59:59:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/2:58:57:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:42:42:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:60:60:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	4/2:47:47:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.	3/2:71:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:75:74:255,.,.,.,.,.,161,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/3:39:39:255,185,86,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	2/5:33:33:255,.,.,255,.,252,.,.,.,.,.,.,.,.,.,255,.,0,.,.,255	3/2:67:67:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:76:76:255,.,.,.,.,.,214,.,.,0,.,.,.,.,.,.,.,.,.,.,.	4/3:84:84:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	1/2:39:39:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:90:90:255,.,.,.,.,.,255,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/1:75:75:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	6	19	.	.	.	.		BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION	.	STRUCTURAL_CONSTITUENT_OF_RIBOSOME;RNA_BINDING;STRUCTURAL_MOLECULE_ACTIVITY	KEGG_RIBOSOME	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	PM4
L	3	40503520	.	ACTGCTGCTGCTG	A	201.48	PASS	RPL14	ribosomal protein L14	exonic	NM_001034996,NM_003973	.	nonframeshift deletion	RPL14:NM_001034996:exon6:c.446_457del:p.149_153del,RPL14:NM_003973:exon6:c.446_457del:p.149_153del	ENST00000416518.1,ENST00000396203.2,ENST00000338970.6	.	3p22.1	.	.	.	.	Score=288;Name="2982652:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	0.00568182	0.0217391	.	.	.	.	.	.	.	.	.	.	0.415586,6.257	.	AC=11,14,21,3,1;AN=50;DP4=3,1,902,625;DP=2082;IDV=60;IMF=0.722892;MQ0F=0;MQ=58;MQSB=0.986155;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.19227e-08	GT:DP:DV:PL	3/1:61:61:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:59:59:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:55:55:255,.,.,151,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:57:57:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:60:60:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:113:113:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	3/3:68:66:255,.,.,.,.,.,114,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/3:54:54:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:255,163,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:42:42:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/1:59:59:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/2:58:57:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:42:42:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:60:60:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	4/2:47:47:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.	3/2:71:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:75:74:255,.,.,.,.,.,161,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/3:39:39:255,185,86,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	2/5:33:33:255,.,.,255,.,252,.,.,.,.,.,.,.,.,.,255,.,0,.,.,255	3/2:67:67:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:76:76:255,.,.,.,.,.,214,.,.,0,.,.,.,.,.,.,.,.,.,.,.	4/3:84:84:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	1/2:39:39:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:90:90:255,.,.,.,.,.,255,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/1:75:75:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	6	19	.	.	.	.		BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION	.	STRUCTURAL_CONSTITUENT_OF_RIBOSOME;RNA_BINDING;STRUCTURAL_MOLECULE_ACTIVITY	KEGG_RIBOSOME	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	
H	3	40503520	.	A	ACTGCTGCTGCTGCTGCTG	201.48	PASS	RPL14	ribosomal protein L14	exonic	NM_001034996,NM_003973	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.445_446insCTGCTGCTGCTGCTGCTG:p.T149delinsTAAAAAA,RPL14:NM_003973:exon6:c.445_446insCTGCTGCTGCTGCTGCTG:p.T149delinsTAAAAAA	ENST00000416518.1,ENST00000396203.2,ENST00000338970.6	.	3p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170455	0.0347826	.	.	.	.	.	.	.	.	.	.	-0.113117,3.446	.	AC=11,14,21,3,1;AN=50;DP4=3,1,902,625;DP=2082;IDV=60;IMF=0.722892;MQ0F=0;MQ=58;MQSB=0.986155;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=1.19227e-08	GT:DP:DV:PL	3/1:61:61:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:59:59:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:55:55:255,.,.,151,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:57:57:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	1/2:60:60:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:113:113:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	3/3:68:66:255,.,.,.,.,.,114,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/3:54:54:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:255,163,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:42:42:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/1:59:59:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/2:58:57:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:42:42:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/2:60:60:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	4/2:47:47:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.	3/2:71:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:75:74:255,.,.,.,.,.,161,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/3:39:39:255,185,86,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	2/5:33:33:255,.,.,255,.,252,.,.,.,.,.,.,.,.,.,255,.,0,.,.,255	3/2:67:67:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:76:76:255,.,.,.,.,.,214,.,.,0,.,.,.,.,.,.,.,.,.,.,.	4/3:84:84:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.	1/2:39:39:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:90:90:255,.,.,.,.,.,255,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/1:75:75:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCT,ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	6	19	.	.	.	.		BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION	.	STRUCTURAL_CONSTITUENT_OF_RIBOSOME;RNA_BINDING;STRUCTURAL_MOLECULE_ACTIVITY	KEGG_RIBOSOME	.	.	REACTOME_TRANSLATION;REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE;REACTOME_PEPTIDE_CHAIN_ELONGATION;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION;REACTOME_METABOLISM_OF_MRNA;REACTOME_METABOLISM_OF_RNA;REACTOME_INFLUENZA_LIFE_CYCLE;REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION;REACTOME_NONSENSE_MEDIATED_DECAY_ENHANCED_BY_THE_EXON_JUNCTION_COMPLEX	PM4
H	3	42251577	.	C	CGGAGGAGGA	202.4	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1841_1842insGGAGGAGGA:p.T614delinsTEEE,TRAK1:NM_014965:exon13:c.1889_1890insGGAGGAGGA:p.T630delinsTEEE,TRAK1:NM_001265608:exon14:c.2063_2064insGGAGGAGGA:p.T688delinsTEEE	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,22,21,1;AN=50;DP4=30,29,959,637;DP=2598;HOB=0.5;ICB=1;IDV=70;IMF=0.583333;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00015222	GT:DP:DV:PL	3/2:82:75:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:54:50:255,.,.,.,.,.,10,.,.,0,.,.,.,.,.	3/3:66:63:255,.,.,.,.,.,84,.,.,0,.,.,.,.,.	2/3:65:64:255,.,.,229,.,84,255,.,0,255,.,.,.,.,.	1/2:54:54:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	3/2:105:100:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/2:84:84:255,.,.,238,.,0,.,.,.,.,.,.,.,.,.	3/1:59:58:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.	3/3:44:40:255,.,.,.,.,.,0,.,.,7,.,.,.,.,.	2/1:64:62:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	2/1:53:53:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/3:57:52:255,.,.,.,.,.,0,.,.,23,.,.,.,.,.	2/3:65:61:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:59:59:255,.,.,255,.,112,255,.,0,255,.,.,.,.,.	0/3:84:74:255,.,.,.,.,.,0,.,.,118,.,.,.,.,.	2/3:72:72:255,.,.,255,.,180,255,.,0,255,.,.,.,.,.	2/3:50:50:255,.,.,255,.,182,255,.,0,255,.,.,.,.,.	2/2:54:54:255,.,.,184,.,33,.,.,.,.,.,.,.,.,.	4/2:85:85:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255	3/2:68:64:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:93:93:255,.,.,255,.,107,255,.,0,255,.,.,.,.,.	2/2:23:23:255,.,.,69,.,0,.,.,.,.,.,.,.,.,.	3/2:67:65:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:70:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	19	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	PM4
H	3	42251577	.	C	CGGAGGA	202.4	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1841_1842insGGAGGA:p.T614delinsTEE,TRAK1:NM_014965:exon13:c.1889_1890insGGAGGA:p.T630delinsTEE,TRAK1:NM_001265608:exon14:c.2063_2064insGGAGGA:p.T688delinsTEE	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465217	.	.	.	.	.	.	.	.	.	.	1.295386,10.24	.	AC=4,22,21,1;AN=50;DP4=30,29,959,637;DP=2598;HOB=0.5;ICB=1;IDV=70;IMF=0.583333;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00015222	GT:DP:DV:PL	3/2:82:75:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:54:50:255,.,.,.,.,.,10,.,.,0,.,.,.,.,.	3/3:66:63:255,.,.,.,.,.,84,.,.,0,.,.,.,.,.	2/3:65:64:255,.,.,229,.,84,255,.,0,255,.,.,.,.,.	1/2:54:54:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	3/2:105:100:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/2:84:84:255,.,.,238,.,0,.,.,.,.,.,.,.,.,.	3/1:59:58:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.	3/3:44:40:255,.,.,.,.,.,0,.,.,7,.,.,.,.,.	2/1:64:62:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	2/1:53:53:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/3:57:52:255,.,.,.,.,.,0,.,.,23,.,.,.,.,.	2/3:65:61:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:59:59:255,.,.,255,.,112,255,.,0,255,.,.,.,.,.	0/3:84:74:255,.,.,.,.,.,0,.,.,118,.,.,.,.,.	2/3:72:72:255,.,.,255,.,180,255,.,0,255,.,.,.,.,.	2/3:50:50:255,.,.,255,.,182,255,.,0,255,.,.,.,.,.	2/2:54:54:255,.,.,184,.,33,.,.,.,.,.,.,.,.,.	4/2:85:85:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255	3/2:68:64:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:93:93:255,.,.,255,.,107,255,.,0,255,.,.,.,.,.	2/2:23:23:255,.,.,69,.,0,.,.,.,.,.,.,.,.,.	3/2:67:65:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:70:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	19	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	PM4
H	3	42251577	rs10634555	C	CGGA	202.4	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1841_1842insGGA:p.T614delinsTE,TRAK1:NM_014965:exon13:c.1889_1890insGGA:p.T630delinsTE,TRAK1:NM_001265608:exon14:c.2063_2064insGGA:p.T688delinsTE	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	.	rs10634555	.	.	.	.	.	.	.	.	.	0.452174	.	.	.	.	.	.	.	.	.	.	1.300250,10.26	.	AC=4,22,21,1;AN=50;DP4=30,29,959,637;DP=2598;HOB=0.5;ICB=1;IDV=70;IMF=0.583333;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00015222	GT:DP:DV:PL	3/2:82:75:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:54:50:255,.,.,.,.,.,10,.,.,0,.,.,.,.,.	3/3:66:63:255,.,.,.,.,.,84,.,.,0,.,.,.,.,.	2/3:65:64:255,.,.,229,.,84,255,.,0,255,.,.,.,.,.	1/2:54:54:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	3/2:105:100:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/2:84:84:255,.,.,238,.,0,.,.,.,.,.,.,.,.,.	3/1:59:58:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.	3/3:44:40:255,.,.,.,.,.,0,.,.,7,.,.,.,.,.	2/1:64:62:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	2/1:53:53:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/3:57:52:255,.,.,.,.,.,0,.,.,23,.,.,.,.,.	2/3:65:61:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:59:59:255,.,.,255,.,112,255,.,0,255,.,.,.,.,.	0/3:84:74:255,.,.,.,.,.,0,.,.,118,.,.,.,.,.	2/3:72:72:255,.,.,255,.,180,255,.,0,255,.,.,.,.,.	2/3:50:50:255,.,.,255,.,182,255,.,0,255,.,.,.,.,.	2/2:54:54:255,.,.,184,.,33,.,.,.,.,.,.,.,.,.	4/2:85:85:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255	3/2:68:64:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:93:93:255,.,.,255,.,107,255,.,0,255,.,.,.,.,.	2/2:23:23:255,.,.,69,.,0,.,.,.,.,.,.,.,.,.	3/2:67:65:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:70:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	19	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	PM4
L	3	42251577	rs753440774	CGGA	C	202.4	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift deletion	TRAK1:NM_001265609:exon13:c.1842_1844del:p.614_615del,TRAK1:NM_014965:exon13:c.1890_1892del:p.630_631del,TRAK1:NM_001265608:exon14:c.2064_2066del:p.688_689del	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	rs753440774	.	.	.	.	.	.	.	.	.	0.0478261	.	.	.	.	.	.	.	.	.	.	1.583113,11.25	.	AC=4,22,21,1;AN=50;DP4=30,29,959,637;DP=2598;HOB=0.5;ICB=1;IDV=70;IMF=0.583333;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.00015222	GT:DP:DV:PL	3/2:82:75:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:54:50:255,.,.,.,.,.,10,.,.,0,.,.,.,.,.	3/3:66:63:255,.,.,.,.,.,84,.,.,0,.,.,.,.,.	2/3:65:64:255,.,.,229,.,84,255,.,0,255,.,.,.,.,.	1/2:54:54:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	3/2:105:100:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:71:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/2:84:84:255,.,.,238,.,0,.,.,.,.,.,.,.,.,.	3/1:59:58:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.	3/3:44:40:255,.,.,.,.,.,0,.,.,7,.,.,.,.,.	2/1:64:62:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	2/1:53:53:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/3:57:52:255,.,.,.,.,.,0,.,.,23,.,.,.,.,.	2/3:65:61:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:59:59:255,.,.,255,.,112,255,.,0,255,.,.,.,.,.	0/3:84:74:255,.,.,.,.,.,0,.,.,118,.,.,.,.,.	2/3:72:72:255,.,.,255,.,180,255,.,0,255,.,.,.,.,.	2/3:50:50:255,.,.,255,.,182,255,.,0,255,.,.,.,.,.	2/2:54:54:255,.,.,184,.,33,.,.,.,.,.,.,.,.,.	4/2:85:85:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255	3/2:68:64:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	2/3:93:93:255,.,.,255,.,107,255,.,0,255,.,.,.,.,.	2/2:23:23:255,.,.,69,.,0,.,.,.,.,.,.,.,.,.	3/2:67:65:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/2:74:70:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	19	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	
L	3	42251583	.	A	AGGAGGC	219.63	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1847_1848insGGAGGC:p.E616delinsEEA,TRAK1:NM_014965:exon13:c.1895_1896insGGAGGC:p.E632delinsEEA,TRAK1:NM_001265608:exon14:c.2069_2070insGGAGGC:p.E690delinsEEA	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,2,3;AN=16;DP4=147,72,264,135;DP=1014;HOB=0.5;ICB=1;IDV=5;IMF=0.0420168;MQ0F=0;MQ=59;MQSB=0.962981;SF=14,15,16,19,20,21,23,24;SGB=-0.693147;VDB=0.695616	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:56:255,0,150,.,.,.,.,.,.,.	0/2:92:54:.,.,.,.,.,255,.,.,.,.	0/3:80:53:255,.,.,.,.,.,0,.,.,179	.	.	0/1:49:31:255,0,200,.,.,.,.,.,.,.	0/1:46:24:255,0,255,.,.,.,.,.,.,.	0/3:113:75:255,.,.,.,.,.,0,.,.,190	.	0/3:78:52:255,.,.,.,.,.,9,.,.,204	0/2:83:54:.,.,.,.,.,255,.,.,.,.	AGGAGG	AGGAGGCGGAGG,AGGTGGAGG,AGGAGGTGGAGG	0	8	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	
L	3	42251583	.	A	AGGT	219.63	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1847_1848insGGT:p.E616delinsEV,TRAK1:NM_014965:exon13:c.1895_1896insGGT:p.E632delinsEV,TRAK1:NM_001265608:exon14:c.2069_2070insGGT:p.E690delinsEV	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,2,3;AN=16;DP4=147,72,264,135;DP=1014;HOB=0.5;ICB=1;IDV=5;IMF=0.0420168;MQ0F=0;MQ=59;MQSB=0.962981;SF=14,15,16,19,20,21,23,24;SGB=-0.693147;VDB=0.695616	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:56:255,0,150,.,.,.,.,.,.,.	0/2:92:54:.,.,.,.,.,255,.,.,.,.	0/3:80:53:255,.,.,.,.,.,0,.,.,179	.	.	0/1:49:31:255,0,200,.,.,.,.,.,.,.	0/1:46:24:255,0,255,.,.,.,.,.,.,.	0/3:113:75:255,.,.,.,.,.,0,.,.,190	.	0/3:78:52:255,.,.,.,.,.,9,.,.,204	0/2:83:54:.,.,.,.,.,255,.,.,.,.	AGGAGG	AGGAGGCGGAGG,AGGTGGAGG,AGGAGGTGGAGG	0	8	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	PM2
L	3	42251583	.	A	AGGAGGT	219.63	PASS	TRAK1	trafficking protein, kinesin binding 1	exonic	NM_001265608,NM_001265609,NM_014965	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1847_1848insGGAGGT:p.E616delinsEEV,TRAK1:NM_014965:exon13:c.1895_1896insGGAGGT:p.E632delinsEEV,TRAK1:NM_001265608:exon14:c.2069_2070insGGAGGT:p.E690delinsEEV	ENST00000396175.1,ENST00000341421.3,ENST00000327628.5,ENST00000487159.1	.	3p22.1	.	.	.	.	Score=288;Name="2985890:(GGA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,2,3;AN=16;DP4=147,72,264,135;DP=1014;HOB=0.5;ICB=1;IDV=5;IMF=0.0420168;MQ0F=0;MQ=59;MQSB=0.962981;SF=14,15,16,19,20,21,23,24;SGB=-0.693147;VDB=0.695616	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:77:56:255,0,150,.,.,.,.,.,.,.	0/2:92:54:.,.,.,.,.,255,.,.,.,.	0/3:80:53:255,.,.,.,.,.,0,.,.,179	.	.	0/1:49:31:255,0,200,.,.,.,.,.,.,.	0/1:46:24:255,0,255,.,.,.,.,.,.,.	0/3:113:75:255,.,.,.,.,.,0,.,.,190	.	0/3:78:52:255,.,.,.,.,.,9,.,.,204	0/2:83:54:.,.,.,.,.,255,.,.,.,.	AGGAGG	AGGAGGCGGAGG,AGGTGGAGG,AGGAGGTGGAGG	0	8	Trafficking protein, kinesin-binding 1	.	.	.	16380713|15644324|12495622|12435728|12034717|10470851	RNA_METABOLIC_PROCESS;ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;GLYCOPROTEIN_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;BIOSYNTHETIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;PROTEIN_TARGETING;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_LOCALIZATION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;MACROMOLECULE_BIOSYNTHETIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;GLYCOPROTEIN_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_O_LINKED_GLYCOSYLATION;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;REGULATION_OF_TRANSCRIPTION	CYTOPLASMIC_PART;CYTOPLASM;NUCLEUS;MITOCHONDRION	.	.	.	.	.	PM2
L	3	63898360	rs781716445	GGCAGCAGCA	G	178.7	PASS	ATXN7	ataxin 7	exonic	NM_000333,NM_001177387	.	nonframeshift deletion	ATXN7:NM_001177387:exon2:c.87_95del:p.29_32del,ATXN7:NM_000333:exon3:c.87_95del:p.29_32del	ENST00000487717.1,ENST00000398590.3,ENST00000295900.6,ENST00000538065.1	.	3p14.1	.	.	.	.	Score=315;Name="3027305:(CAG)n(Simple_repeat)"	rs781716445	.	.	.	.	.	.	0.0143	0	.	0.0173913	.	.	.	.	.	.	.	.	.	.	1.511729,11.01	.	AC=7,1,2,1;AN=20;DP4=35,16,52,29;DP=185;HOB=0.5;ICB=1;IDV=2;IMF=0.285714;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,6,7,9,15,20,23,24;SGB=-0.453602;VDB=0.168702	GT:DP:DV:PL	0/3:6:2:93,.,.,.,.,.,0,.,.,136,.,.,.,.,.	0/1:11:6:182,0,177,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	0/1:16:10:255,0,178,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:11:255,0,249,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:9:4:176,.,.,.,.,.,0,.,.,175,.,.,.,.,.	.	.	.	.	.	0/4:12:3:135,.,.,.,.,.,.,.,.,.,0,.,.,.,255	.	.	.	.	0/2:13:9:255,.,.,0,.,177,.,.,.,.,.,.,.,.,.	.	.	0/1:23:15:255,0,183,.,.,.,.,.,.,.,.,.,.,.,.	0/1:12:10:255,0,75,.,.,.,.,.,.,.,.,.,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GGCAGCAGCAGCAGCAGCAGCAGC,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	1	9	Spinocerebellar ataxia 7, 164500 (3)	.	.	.	21689595|19843541|15661755|15115762|14613968|12944423|12533095|12490531|12471061|12052880|12039035|11805826|11734547|11709544|11580893|11371513|11030754|10598805|10441328|9288099	ORGANELLE_ORGANIZATION_AND_BIOGENESIS;NUCLEAR_ORGANIZATION_AND_BIOGENESIS;SENSORY_PERCEPTION;NEUROLOGICAL_SYSTEM_PROCESS;SYSTEM_PROCESS	NUCLEUS	.	.	.	.	.	
H	3	65425560	rs142043619	T	TCTGCTG	207.62	PASS	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	exonic	NM_001033057,NM_004742,NM_015520	.	nonframeshift insertion	MAGI1:NM_001033057:exon9:c.1263_1264insCAGCAG:p.T422delinsQQT,MAGI1:NM_004742:exon9:c.1263_1264insCAGCAG:p.T422delinsQQT,MAGI1:NM_015520:exon9:c.1263_1264insCAGCAG:p.T422delinsQQT	ENST00000483466.1,ENST00000497477.2,ENST00000470990.1,ENST00000330909.8,ENST00000402939.2	.	3p14.1	.	.	.	.	.	rs142043619	.	.	0.00166113	0.001	0.00339457	0.0280	0.0072	0.0059	0.00166113	0.00166113	.	.	.	.	.	.	.	.	.	.	1.974123,12.56	.	AC=28,2;AN=48;DP4=86,39,187,96;DP=484;HOB=0.5;ICB=1;IDV=12;IMF=0.631579;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.57242	GT:DP:DV:PL	0/1:18:13:255,0,113,.,.,.	0/1:17:15:255,0,60,.,.,.	0/1:31:16:255,0,255,.,.,.	0/1:11:6:224,0,195,.,.,.	0/1:12:5:158,0,248,.,.,.	0/1:24:9:255,0,255,.,.,.	0/1:11:9:255,0,78,.,.,.	0/1:18:10:255,0,255,.,.,.	1/2:19:19:255,203,158,255,0,255	2/1:12:12:255,255,255,233,0,212	0/1:16:11:255,0,202,.,.,.	0/1:14:7:197,0,222,.,.,.	.	0/1:19:6:226,0,255,.,.,.	0/1:18:9:255,0,251,.,.,.	1/1:16:16:255,48,0,.,.,.	0/1:15:13:255,0,18,.,.,.	0/1:15:5:206,0,255,.,.,.	0/1:18:8:255,0,255,.,.,.	1/1:12:12:255,36,0,.,.,.	1/1:18:17:255,0,6,.,.,.	1/1:25:24:255,15,0,.,.,.	0/1:7:6:232,1,41,.,.,.	0/1:15:10:255,0,165,.,.,.	0/1:27:25:255,0,31,.,.,.	TCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCT	TCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCT,TCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCT	4	20	Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1	.	.	.	17918747|16339077|12042308|11969287|9647739|9647693|9395497|9225980|9169421	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	MEMBRANE;PLASMA_MEMBRANE	PROTEIN_C_TERMINUS_BINDING	KEGG_TIGHT_JUNCTION	.	.	.	PM4
L	3	73114254	rs754988583	CAGAAGAGGATGA	C	224.5	PASS	PPP4R2	protein phosphatase 4, regulatory subunit 2	exonic	NM_174907	.	nonframeshift deletion	PPP4R2:NM_174907:exon8:c.891_902del:p.297_301del	ENST00000394284.3,ENST00000295862.9,ENST00000356692.5	.	3p13	.	.	.	Score=0.94987;Name=chr5:1615580	Score=213;Name="3044723:(GAA)n(Simple_repeat)"	rs754988583	.	.	.	.	.	.	0.0015	0.0187	0.0184659	0.00434783	.	.	.	.	.	.	.	.	.	.	2.483557,14.26	.	AC=3;AN=4;DP4=1,2,5,25;DP=37;HOB=0.5;ICB=1;IDV=23;IMF=0.884615;MQ0F=0;MQ=60;MQSB=1;SF=20,22;SGB=-0.692717;VDB=0.0119245	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:23:23:255,69,0	.	0/1:10:7:255,0,89	.	.	CAGAAGAGGATGAAGAAGAGGATGAAGA	CAGAAGAGGATGAAGA	1	1	Protein phosphatase 4, regulatory subunit 2	.	.	.	20154705|16085932|10769191	BIOPOLYMER_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	ORGANELLE_PART;MICROTUBULE_CYTOSKELETON;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;MICROTUBULE_ORGANIZING_CENTER;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;CENTROSOME;INTRACELLULAR_ORGANELLE_PART	.	.	.	.	.	
H	3	100570787	rs376470742	T	TAAAA	45.6	PASS	ABI3BP	ABI family, member 3 (NESH) binding protein	splicing	NM_015429	NM_015429:exon13:c.1160-3->TTTT	.	.	ENST00000284322.5,ENST00000471714.1,ENST00000495063.1	.	3q12.2	.	.	.	.	.	rs376470742	.	.	.	.	.	.	0.0254	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	0.506692,6.747	.	AC=1,1;AN=2;DP4=0,0,1,10;DP=17;IDV=12;IMF=0.705882;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.676189;VDB=0.000867975	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:11:11:105,51,39,73,0,61	.	.	.	.	TAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	1	Target of Nesh-SH3	.	.	.	11501947	.	.	.	.	.	.	.	
H	3	124066121	rs765111354	C	CTGTGTG	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	NM_001024660:exon10:c.1764+9->TGTGTG;NM_003947:exon10:c.1764+9->TGTGTG	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	.	rs765111354	.	.	.	.	.	.	.	.	.	0.0652174	.	.	.	.	.	.	.	.	.	.	0.037106,4.207	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	3	124066121	rs771058577	CTGTGTGTG	C	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	.	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	Score=423;Name="3122171:(TG)n(Simple_repeat)"	rs771058577	.	.	.	.	.	.	0.0488	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	0.220065,5.187	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	3	124066121	.	C	CTGTGTGTGTG	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	NM_001024660:exon10:c.1764+9->TGTGTGTGTG;NM_003947:exon10:c.1764+9->TGTGTGTGTG	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	3	124066121	rs764212531	C	CTGTG	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	NM_001024660:exon10:c.1764+9->TGTG;NM_003947:exon10:c.1764+9->TGTG	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	.	rs764212531	.	.	.	.	.	.	0.0032	0.0022	.	0.0608696	.	.	.	.	.	.	.	.	.	.	0.054433,4.297	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	3	124066121	rs781235549	CTGTGTG	C	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	.	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	Score=423;Name="3122171:(TG)n(Simple_repeat)"	rs781235549	.	.	.	.	.	.	0.0043	0.0028	.	0.00434783	.	.	.	.	.	.	.	.	.	.	0.217934,5.175	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	3	124066121	.	C	CTGTGTGTG	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	NM_001024660:exon10:c.1764+9->TGTGTGTG;NM_003947:exon10:c.1764+9->TGTGTGTG	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0347826	.	.	.	.	.	.	.	.	.	.	.	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
L	3	124066121	rs758665994	CTGTGTGTGTG	C	57.26	PASS	KALRN	kalirin, RhoGEF kinase	splicing	NM_001024660,NM_003947	.	.	.	ENST00000360013.3,ENST00000240874.3,ENST00000460856.1	.	3q21.2	.	.	.	.	Score=423;Name="3122171:(TG)n(Simple_repeat)"	rs758665994	.	.	.	.	.	.	0.0137	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	0.183233,4.987	.	AC=9,2,2,7,2,2,1;AN=26;DP4=0,2,2,33;DP=114;HOB=0.5;ICB=1;IDV=4;IMF=0.363636;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,6,7,11,12,13,16,18,19,20,21;SGB=-0.511536;VDB=0.0481132	GT:DP:DV:PL	.	2/2:3:3:146,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:3:3:95,55,52,.,.,.,.,.,.,.,.,.,.,.,.,43,0,.,.,.,40,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/4:3:3:150,.,.,.,.,.,57,.,.,51,97,.,.,0,94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:3:3:111,.,.,.,.,.,.,.,.,.,24,.,.,.,18,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:3:3:107,.,.,.,.,.,55,.,.,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,.,.,0,.,.,.,52	.	.	.	1/6:3:3:107,55,52,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,.,52,.,.,.,.,.,.,.,.	1/6:2:2:111,57,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,0,.,.,.,.,54,.,.,.,.,.,.,.,.	1/1:4:4:118,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/4:2:2:72,.,.,.,.,.,.,.,.,.,25,.,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/4:2:2:111,57,54,.,.,.,.,.,.,.,57,0,.,.,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:2:1:54,0,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:2:2:93,57,54,.,.,.,.,.,.,.,.,.,.,.,.,39,0,.,.,.,36,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/4:5:4:132,36,49,.,.,.,.,.,.,.,82,0,.,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	4	9	{Coronary heart disease, susceptibility to, 5}, 608901 (3)	.	.	.	18199770|17881726|17357071|14742910|11891045|10777487|10023074|9285789|9139723|8910496	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;ESTABLISHMENT_OF_LOCALIZATION;BIOPOLYMER_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;PROTEIN_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE	NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETON;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GUANYL_NUCLEOTIDE_EXCHANGE_FACTOR_ACTIVITY	.	PID_EPHBFWDPATHWAY;PID_ARF6DOWNSTREAMPATHWAY;PID_RAC1_REG_PATHWAY	.	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALLING_BY_NGF;REACTOME_GASTRIN_CREB_SIGNALLING_PATHWAY_VIA_PKC_AND_MAPK;REACTOME_NRAGE_SIGNALS_DEATH_THROUGH_JNK;REACTOME_CELL_DEATH_SIGNALLING_VIA_NRAGE_NRIF_AND_NADE;REACTOME_P75_NTR_RECEPTOR_MEDIATED_SIGNALLING;REACTOME_SIGNALING_BY_GPCR;REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS;REACTOME_G_ALPHA1213_SIGNALLING_EVENTS;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	3	124998098	rs758751282	C	CAAAA	85.51	PASS	ZNF148	zinc finger protein 148	splicing	NM_021964	NM_021964:exon6:c.460-7->TTTT	.	.	ENST00000484491.1,ENST00000468369.1,ENST00000360647.4,ENST00000492394.1,ENST00000497929.1,ENST00000544464.1,ENST00000485866.1	.	3q21.2	.	.	.	.	.	rs758751282	.	.	.	.	.	.	0.0097	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	1.235539,10.02	.	AC=20,3,1;AN=32;DP4=31,65,61,148;DP=423;HOB=0.5;ICB=1;IDV=12;IMF=0.4;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,6,7,8,9,11,15,16,18,20,21,22,23,24;SGB=-0.662043;VDB=0.0269852	GT:DP:DV:PL	0/1:17:9:76,0,21,.,.,.,.,.,.,.	1/1:10:9:125,3,0,.,.,.,.,.,.,.	.	0/1:15:7:79,0,15,.,.,.,.,.,.,.	.	.	1/2:19:19:219,84,42,163,0,154,.,.,.,.	1/1:11:11:158,55,33,.,.,.,.,.,.,.	1/1:29:29:208,69,0,.,.,.,.,.,.,.	0/1:22:8:58,0,27,.,.,.,.,.,.,.	.	0/1:26:12:63,1,22,.,.,.,.,.,.,.	.	.	.	0/1:26:12:105,0,25,.,.,.,.,.,.,.	1/1:20:14:162,29,31,.,.,.,.,.,.,.	.	1/2:25:25:251,113,71,174,0,162,.,.,.,.	.	0/1:19:9:80,0,22,.,.,.,.,.,.,.	0/1:24:11:67,0,83,.,.,.,.,.,.,.	3/2:8:8:105,.,.,58,.,52,60,.,0,45	1/1:17:15:157,26,23,.,.,.,.,.,.,.	0/1:17:11:119,0,8,.,.,.,.,.,.,.	CAAAAAAAAAAA	CAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAA	5	11	Zinc finger protein-148	.	.	.	17663720|16517939|12771217|12524542|11416144|11322790|9925940|9685330|9457682|8943318|8355710|8268908|7557990	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;DEFENSE_RESPONSE;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;CELLULAR_DEFENSE_RESPONSE	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;DNA_DIRECTED_RNA_POLYMERASE_COMPLEX;NUCLEUS;DNA_DIRECTED_RNA_POLYMERASEII_CORE_COMPLEX;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;RNA_POLYMERASE_COMPLEX;NUCLEAR_DNA_DIRECTED_RNA_POLYMERASE_COMPLEX;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	SPECIFIC_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY	.	.	.	.	
L	3	156864398	rs772209394	TAAAAAAA	T	81.66	PASS	CCNL1	cyclin L1	splicing	NM_001308185	.	.	.	ENST00000461804.1	.	3q25.31	.	.	.	.	Score=777;Name="3181253:FLAM_A(SINE)"	rs772209394	.	.	.	.	.	.	0.0202	0.0238	.	.	.	.	.	.	.	.	.	.	.	.	-0.049177,3.763	.	AC=19,4,1;AN=24;DP4=16,2,91,11;DP=245;IDV=13;IMF=0.722222;MQ0F=0;MQ=60;MQSB=1;SF=0,2,4,5,6,8,9,10,13,18,20,21;SGB=-0.662043;VDB=0.0383199	GT:DP:DV:PL	1/1:12:9:138,8,0,.,.,.,.,.,.,.	.	1/2:10:8:146,55,48,94,0,91,.,.,.,.	.	1/2:11:10:171,59,44,119,0,115,.,.,.,.	1/3:19:19:209,91,57,.,.,.,155,0,.,139	1/1:8:5:64,1,0,.,.,.,.,.,.,.	.	1/1:5:4:78,31,28,.,.,.,.,.,.,.	1/1:8:6:79,16,13,.,.,.,.,.,.,.	1/2:10:10:188,91,73,117,0,108,.,.,.,.	.	.	1/1:5:5:100,35,26,.,.,.,.,.,.,.	.	.	.	.	1/1:8:5:63,0,0,.,.,.,.,.,.,.	.	1/1:11:8:95,5,0,.,.,.,.,.,.,.	1/2:13:13:205,64,40,157,0,151,.,.,.,.	.	.	.	TAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAA,TAAAAAAAAAAA,TAAAAAAAAAAAAA	7	5	Cyclin L1	.	.	.	18216018|12807435|11980906|11683997	.	.	.	.	.	.	.	
L	3	156864398	rs772781920	TAAAAA	T	81.66	PASS	CCNL1	cyclin L1	splicing	NM_001308185	.	.	.	ENST00000461804.1	.	3q25.31	.	.	.	.	Score=777;Name="3181253:FLAM_A(SINE)"	rs772781920	.	.	.	.	.	.	0.0036	0	.	.	.	.	.	.	.	.	.	.	.	.	-0.075302,3.632	.	AC=19,4,1;AN=24;DP4=16,2,91,11;DP=245;IDV=13;IMF=0.722222;MQ0F=0;MQ=60;MQSB=1;SF=0,2,4,5,6,8,9,10,13,18,20,21;SGB=-0.662043;VDB=0.0383199	GT:DP:DV:PL	1/1:12:9:138,8,0,.,.,.,.,.,.,.	.	1/2:10:8:146,55,48,94,0,91,.,.,.,.	.	1/2:11:10:171,59,44,119,0,115,.,.,.,.	1/3:19:19:209,91,57,.,.,.,155,0,.,139	1/1:8:5:64,1,0,.,.,.,.,.,.,.	.	1/1:5:4:78,31,28,.,.,.,.,.,.,.	1/1:8:6:79,16,13,.,.,.,.,.,.,.	1/2:10:10:188,91,73,117,0,108,.,.,.,.	.	.	1/1:5:5:100,35,26,.,.,.,.,.,.,.	.	.	.	.	1/1:8:5:63,0,0,.,.,.,.,.,.,.	.	1/1:11:8:95,5,0,.,.,.,.,.,.,.	1/2:13:13:205,64,40,157,0,151,.,.,.,.	.	.	.	TAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAA,TAAAAAAAAAAA,TAAAAAAAAAAAAA	7	5	Cyclin L1	.	.	.	18216018|12807435|11980906|11683997	.	.	.	.	.	.	.	PM2
L	3	183493743	rs756077880	CGGAGGA	C	203.13	PASS	YEATS2	YEATS domain containing 2	exonic	NM_018023	.	nonframeshift deletion	YEATS2:NM_018023:exon18:c.2410_2415del:p.804_805del	ENST00000305135.5	.	3q27.1	.	.	.	.	Score=309;Name="3227148:GA-rich(Low_complexity)"	rs756077880	.	.	.	.	.	.	0.0316	0.0409	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.414166,10.67	.	AC=27,2,1;AN=46;DP4=140,43,231,123;DP=659;HOB=0.5;ICB=1;IDV=5;IMF=0.166667;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.0253244	GT:DP:DV:PL	0/1:24:5:169,0,255,.,.,.,.,.,.,.	1/1:29:29:255,87,0,.,.,.,.,.,.,.	0/1:20:13:255,0,217,.,.,.,.,.,.,.	1/1:22:22:255,63,0,.,.,.,.,.,.,.	0/1:23:12:255,0,255,.,.,.,.,.,.,.	.	0/1:27:14:255,0,255,.,.,.,.,.,.,.	0/1:35:15:255,0,255,.,.,.,.,.,.,.	0/1:27:14:255,0,255,.,.,.,.,.,.,.	1/2:23:23:255,129,68,255,0,255,.,.,.,.	0/1:27:18:255,0,236,.,.,.,.,.,.,.	1/1:21:21:255,63,0,.,.,.,.,.,.,.	1/1:18:17:255,31,0,.,.,.,.,.,.,.	0/3:27:13:255,.,.,.,.,.,0,.,.,255	.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	0/1:23:14:255,0,255,.,.,.,.,.,.,.	0/1:30:21:255,0,255,.,.,.,.,.,.,.	1/1:25:25:255,75,0,.,.,.,.,.,.,.	0/2:19:12:255,.,.,0,.,255,.,.,.,.	0/1:21:12:255,0,252,.,.,.,.,.,.,.	0/1:26:15:255,0,255,.,.,.,.,.,.,.	0/1:10:2:72,0,255,.,.,.,.,.,.,.	0/1:21:3:93,0,255,.,.,.,.,.,.,.	0/1:17:12:255,0,201,.,.,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	17	YEATS domain-containing protein 2	.	.	.	18838386|10574462	.	.	.	.	.	.	.	
H	3	183493743	rs761594485	C	CGGA	203.13	PASS	YEATS2	YEATS domain containing 2	exonic	NM_018023	.	nonframeshift insertion	YEATS2:NM_018023:exon18:c.2409_2410insGGA:p.A803delinsAG	ENST00000305135.5	.	3q27.1	.	.	.	.	.	rs761594485	.	.	.	.	.	.	0.0080	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	0.676781,7.621	.	AC=27,2,1;AN=46;DP4=140,43,231,123;DP=659;HOB=0.5;ICB=1;IDV=5;IMF=0.166667;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,15,16,17,18,19,20,21,22,23,24;SGB=-0.590765;VDB=0.0253244	GT:DP:DV:PL	0/1:24:5:169,0,255,.,.,.,.,.,.,.	1/1:29:29:255,87,0,.,.,.,.,.,.,.	0/1:20:13:255,0,217,.,.,.,.,.,.,.	1/1:22:22:255,63,0,.,.,.,.,.,.,.	0/1:23:12:255,0,255,.,.,.,.,.,.,.	.	0/1:27:14:255,0,255,.,.,.,.,.,.,.	0/1:35:15:255,0,255,.,.,.,.,.,.,.	0/1:27:14:255,0,255,.,.,.,.,.,.,.	1/2:23:23:255,129,68,255,0,255,.,.,.,.	0/1:27:18:255,0,236,.,.,.,.,.,.,.	1/1:21:21:255,63,0,.,.,.,.,.,.,.	1/1:18:17:255,31,0,.,.,.,.,.,.,.	0/3:27:13:255,.,.,.,.,.,0,.,.,255	.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	0/1:23:14:255,0,255,.,.,.,.,.,.,.	0/1:30:21:255,0,255,.,.,.,.,.,.,.	1/1:25:25:255,75,0,.,.,.,.,.,.,.	0/2:19:12:255,.,.,0,.,255,.,.,.,.	0/1:21:12:255,0,252,.,.,.,.,.,.,.	0/1:26:15:255,0,255,.,.,.,.,.,.,.	0/1:10:2:72,0,255,.,.,.,.,.,.,.	0/1:21:3:93,0,255,.,.,.,.,.,.,.	0/1:17:12:255,0,201,.,.,.,.,.,.,.	CGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	CGGAGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGG,CGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG	6	17	YEATS domain-containing protein 2	.	.	.	18838386|10574462	.	.	.	.	.	.	.	PM4
H	3	183959513	rs778343866	A	ACCT	222	PASS	VWA5B2	von Willebrand factor A domain containing 5B2	exonic	NM_138345	.	nonframeshift insertion	VWA5B2:NM_138345:exon19:c.3416_3417insCCT:p.Q1139delinsHL	ENST00000444495.1,ENST00000273794.5,ENST00000426955.2	CpG: 54	3q27.1	.	.	.	.	.	rs778343866	.	.	.	.	.	.	0.0008	0	0.0198864	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=13,4,9,9;DP=39;HOB=0.5;ICB=1;IDV=19;IMF=0.487179;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.691153;VDB=0.388485	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:35:18:255,0,255	.	.	.	.	A	ACCT	0	1	.	.	.	.		.	.	.	.	.	.	.	PM4
L	3	196730258	.	GAGCAGGCGGGCGGCGAGGGCGGGCAGC	G	134	PASS	MFI2	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	exonic	NM_005929	.	nonframeshift deletion	MFI2:NM_005929:exon16:c.2175_2201del:p.725_734del	ENST00000415244.1,ENST00000446695.1,ENST00000424769.1,ENST00000296350.5	CpG: 185	3q29	.	.	.	.	Score=224;Name="3253775:G-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=1,2,4,0;DP=8;HOB=0.5;ICB=1;IDV=4;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.556411;VDB=0.0108399	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:7:4:167,0,150	.	.	.	.	GAGCAGGCGGGCGGCGAGGGCGGGCAGCAGCAG	GAGCAG	0	1	Melanoma-associated antigen p97	.	.	.	6843660|6585826|3754536|3010712|2419904	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PM2
L	3	197880130	rs747206500	GGCA	G	177.62	PASS	FAM157A	family with sequence similarity 157, member A	exonic	NM_001145248	.	nonframeshift deletion	FAM157A:NM_001145248:exon2:c.210_212del:p.70_71del	ENST00000437428.2	.	3q29	.	.	.	Score=0.99048;Name=chr16:90163389	Score=378;Name="3256116:(CAG)n(Simple_repeat)"	rs747206500	.	.	.	.	.	.	0.0095	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	-1.023464,0.228	.	AC=13,21,1,1;AN=46;DP4=38,31,113,102;DP=364;HOB=0.5;ICB=1;IDV=8;IMF=0.571429;MQ0F=0;MQ=51;MQSB=0.623736;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.651104;VDB=0.0487084	GT:DP:DV:PL	0/2:13:8:250,.,.,0,.,226,.,.,.,.,.,.,.,.,.	1/1:9:8:255,6,0,.,.,.,.,.,.,.,.,.,.,.,.	2/4:13:13:255,.,.,94,.,70,.,.,.,.,255,.,0,.,255	.	0/1:11:4:108,0,247,.,.,.,.,.,.,.,.,.,.,.,.	2/1:13:13:255,248,230,220,0,199,.,.,.,.,.,.,.,.,.	0/3:16:3:80,.,.,.,.,.,0,.,.,255,.,.,.,.,.	2/1:14:14:255,255,251,233,0,212,.,.,.,.,.,.,.,.,.	0/2:9:7:186,.,.,0,.,88,.,.,.,.,.,.,.,.,.	2/2:10:10:255,.,.,51,.,24,.,.,.,.,.,.,.,.,.	0/2:14:7:205,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/2:13:5:156,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/2:8:3:78,.,.,0,.,231,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,42,.,9,.,.,.,.,.,.,.,.,.	2/1:19:19:255,255,255,255,0,254,.,.,.,.,.,.,.,.,.	1/1:5:5:173,15,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:255,42,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:7:7:218,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/2:10:10:255,.,.,30,.,0,.,.,.,.,.,.,.,.,.	0/2:19:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	1/1:15:15:255,52,10,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:6:198,0,154,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:238,.,.,0,.,255,.,.,.,.,.,.,.,.,.	2/2:14:14:255,.,.,42,.,0,.,.,.,.,.,.,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	9	14	.	.	.	.		.	.	.	.	.	.	.	
L	3	197880130	rs776737123	G	GGCA	177.62	PASS	FAM157A	family with sequence similarity 157, member A	exonic	NM_001145248	.	nonframeshift insertion	FAM157A:NM_001145248:exon2:c.209_210insGCA:p.W70delinsWQ	ENST00000437428.2	.	3q29	.	.	.	Score=0.99048;Name=chr16:90163389	.	rs776737123	.	.	.	.	.	.	0.0112	0.0268	.	0.0130435	.	.	.	.	.	.	.	.	.	.	-0.998017,0.263	.	AC=13,21,1,1;AN=46;DP4=38,31,113,102;DP=364;HOB=0.5;ICB=1;IDV=8;IMF=0.571429;MQ0F=0;MQ=51;MQSB=0.623736;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.651104;VDB=0.0487084	GT:DP:DV:PL	0/2:13:8:250,.,.,0,.,226,.,.,.,.,.,.,.,.,.	1/1:9:8:255,6,0,.,.,.,.,.,.,.,.,.,.,.,.	2/4:13:13:255,.,.,94,.,70,.,.,.,.,255,.,0,.,255	.	0/1:11:4:108,0,247,.,.,.,.,.,.,.,.,.,.,.,.	2/1:13:13:255,248,230,220,0,199,.,.,.,.,.,.,.,.,.	0/3:16:3:80,.,.,.,.,.,0,.,.,255,.,.,.,.,.	2/1:14:14:255,255,251,233,0,212,.,.,.,.,.,.,.,.,.	0/2:9:7:186,.,.,0,.,88,.,.,.,.,.,.,.,.,.	2/2:10:10:255,.,.,51,.,24,.,.,.,.,.,.,.,.,.	0/2:14:7:205,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/2:13:5:156,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/2:8:3:78,.,.,0,.,231,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,42,.,9,.,.,.,.,.,.,.,.,.	2/1:19:19:255,255,255,255,0,254,.,.,.,.,.,.,.,.,.	1/1:5:5:173,15,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:255,42,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:7:7:218,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/2:10:10:255,.,.,30,.,0,.,.,.,.,.,.,.,.,.	0/2:19:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	1/1:15:15:255,52,10,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:6:198,0,154,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:238,.,.,0,.,255,.,.,.,.,.,.,.,.,.	2/2:14:14:255,.,.,42,.,0,.,.,.,.,.,.,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	9	14	.	.	.	.		.	.	.	.	.	.	.	PM4
L	4	3076603	rs778928198	CCAGCAGCAGCAG	C	160.36	PASS	HTT	huntingtin	exonic	NM_002111	.	nonframeshift deletion	HTT:NM_002111:exon1:c.52_63del:p.18_21del	ENST00000355072.5	.	4p16.3	.	.	.	.	Score=555;Name="3261750:(CAG)n(Simple_repeat)"	rs778928198	.	.	.	.	.	.	0.0151	0.0088	.	0.0130435	.	.	.	.	.	.	.	.	.	.	2.187542,13.27	.	AC=2,23,15,3,1;AN=44;DP4=0,0,89,233;DP=1130;IDV=14;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,15,16,17,18,19,20,21,23,24;SGB=-0.511536;VDB=0.0279572	GT:DP:DV:PL	3/3:3:3:55,.,.,.,.,.,9,.,.,0,.,.,.,.,.,.,.,.,.,.,.	5/2:4:4:212,.,.,161,.,158,.,.,.,.,.,.,.,.,.,57,.,0,.,.,48	1/4:29:29:255,152,107,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.	2/2:6:6:162,.,.,18,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:9:9:255,.,.,.,.,.,27,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/2:56:56:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:5:5:163,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:25:25:196,.,.,81,.,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:19:19:255,.,.,57,.,6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:3:3:126,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:4:4:140,.,.,.,.,.,12,.,.,0,.,.,.,.,.,.,.,.,.,.,.	3/3:6:6:221,.,.,.,.,.,18,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,36,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:13:13:255,.,.,57,.,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:20:20:255,.,.,195,.,171,147,.,0,114,.,.,.,.,.,.,.,.,.,.,.	3/3:6:6:190,.,.,.,.,.,18,.,.,0,.,.,.,.,.,.,.,.,.,.,.	4/4:9:9:255,.,.,.,.,.,.,.,.,.,27,.,.,.,0,.,.,.,.,.,.	2/2:4:4:133,.,.,12,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:2:2:56,.,.,.,.,.,6,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/2:48:48:255,.,.,138,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:35:35:255,.,.,102,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:4:4:100,.,.,.,.,.,12,.,.,0,.,.,.,.,.,.,.,.,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	18	4	Huntington disease, 143100 (3)	.	.	.	21336284|20696378|20670829|20185558|19933700|19797250|19628478|19451134|18838463|18669659|17548833|17450122|16777606|16403806|16115810|15843398|15654337|15242649|14625278|14570710|12881722|12857955|12783847|12466534|11739372|11408619|11063736|10712225|10655548|9931325|9660943|9246489|9246488|9063751|8968738|8842726|8755937|8659522|8638101|8612237|8612215|8541834|8458085|8401589|8401588|8401587|8401575|8197474|8133508|8111375|8111374|8054984|8009370|7959767|7919654|7820679|7774020|7759106|7647794|7647777|7618107|7568002|7550343|7477378|2886227|2535231|2523855|1315306|1303232|1303170	SYSTEM_DEVELOPMENT;MULTI_ORGANISM_PROCESS;CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;ANATOMICAL_STRUCTURE_MORPHOGENESIS;BEHAVIOR;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;APOPTOSIS_GO	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;NUCLEUS;CELL_FRACTION;SOLUBLE_FRACTION	MICROTUBULE_BINDING;TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_HUNTINGTONS_DISEASE	PID_P53DOWNSTREAMPATHWAY	.	.	
H	4	3076603	.	C	CCAGCAGCAGCAG	160.36	PASS	HTT	huntingtin	exonic	NM_002111	.	nonframeshift insertion	HTT:NM_002111:exon1:c.51_52insCAGCAGCAGCAG:p.F17delinsFQQQQ	ENST00000355072.5	.	4p16.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=2,23,15,3,1;AN=44;DP4=0,0,89,233;DP=1130;IDV=14;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,10,11,12,13,15,16,17,18,19,20,21,23,24;SGB=-0.511536;VDB=0.0279572	GT:DP:DV:PL	3/3:3:3:55,.,.,.,.,.,9,.,.,0,.,.,.,.,.,.,.,.,.,.,.	5/2:4:4:212,.,.,161,.,158,.,.,.,.,.,.,.,.,.,57,.,0,.,.,48	1/4:29:29:255,152,107,.,.,.,.,.,.,.,255,0,.,.,255,.,.,.,.,.,.	2/2:6:6:162,.,.,18,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:9:9:255,.,.,.,.,.,27,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/2:56:56:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:5:5:163,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:25:25:196,.,.,81,.,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:19:19:255,.,.,57,.,6,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:3:3:126,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:4:4:140,.,.,.,.,.,12,.,.,0,.,.,.,.,.,.,.,.,.,.,.	3/3:6:6:221,.,.,.,.,.,18,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,36,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:13:13:255,.,.,57,.,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:20:20:255,.,.,195,.,171,147,.,0,114,.,.,.,.,.,.,.,.,.,.,.	3/3:6:6:190,.,.,.,.,.,18,.,.,0,.,.,.,.,.,.,.,.,.,.,.	4/4:9:9:255,.,.,.,.,.,.,.,.,.,27,.,.,.,0,.,.,.,.,.,.	2/2:4:4:133,.,.,12,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:2:2:56,.,.,.,.,.,6,.,.,0,.,.,.,.,.,.,.,.,.,.,.	2/2:48:48:255,.,.,138,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:35:35:255,.,.,102,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:4:4:100,.,.,.,.,.,12,.,.,0,.,.,.,.,.,.,.,.,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	18	4	Huntington disease, 143100 (3)	.	.	.	21336284|20696378|20670829|20185558|19933700|19797250|19628478|19451134|18838463|18669659|17548833|17450122|16777606|16403806|16115810|15843398|15654337|15242649|14625278|14570710|12881722|12857955|12783847|12466534|11739372|11408619|11063736|10712225|10655548|9931325|9660943|9246489|9246488|9063751|8968738|8842726|8755937|8659522|8638101|8612237|8612215|8541834|8458085|8401589|8401588|8401587|8401575|8197474|8133508|8111375|8111374|8054984|8009370|7959767|7919654|7820679|7774020|7759106|7647794|7647777|7618107|7568002|7550343|7477378|2886227|2535231|2523855|1315306|1303232|1303170	SYSTEM_DEVELOPMENT;MULTI_ORGANISM_PROCESS;CELL_DEVELOPMENT;PROGRAMMED_CELL_DEATH;ANATOMICAL_STRUCTURE_MORPHOGENESIS;BEHAVIOR;REGULATION_OF_DEVELOPMENTAL_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_APOPTOSIS;REGULATION_OF_PROGRAMMED_CELL_DEATH;ORGAN_DEVELOPMENT;APOPTOSIS_GO	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;NUCLEUS;CELL_FRACTION;SOLUBLE_FRACTION	MICROTUBULE_BINDING;TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TUBULIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_HUNTINGTONS_DISEASE	PID_P53DOWNSTREAMPATHWAY	.	.	PM4
H	4	17634256	rs142873186	C	CAAA	191.48	PASS	FAM184B	family with sequence similarity 184, member B	splicing	NM_015688	NM_015688:exon18:c.3090-8->TTT	.	.	ENST00000265018.3,ENST00000237380.7	.	4p15.32	.	.	.	.	.	rs142873186	.	.	.	.	.	.	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	0.993223,9.056	.	AC=43,1;AN=50;DP4=34,42,217,275;DP=695;HOB=0.5;ICB=1;IDV=39;IMF=0.829787;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.0435668	GT:DP:DV:PL	1/1:38:38:255,114,0,.,.,.	1/1:30:30:255,90,0,.,.,.	1/1:18:18:255,54,0,.,.,.	1/1:14:14:199,33,0,.,.,.	1/1:21:21:255,63,0,.,.,.	0/1:35:15:172,0,208,.,.,.	1/1:20:20:246,54,0,.,.,.	0/1:25:8:101,0,205,.,.,.	1/1:31:31:255,93,0,.,.,.	1/1:13:13:190,36,0,.,.,.	1/1:21:21:255,63,0,.,.,.	1/1:19:19:242,51,0,.,.,.	0/1:24:12:172,0,151,.,.,.	1/1:27:27:255,81,0,.,.,.	1/2:22:22:255,115,57,214,0,205	0/1:14:7:125,0,120,.,.,.	1/1:13:13:217,39,0,.,.,.	1/1:19:19:255,54,0,.,.,.	1/1:23:23:255,63,0,.,.,.	1/1:17:17:252,51,0,.,.,.	0/1:22:12:166,0,151,.,.,.	1/1:43:43:255,129,0,.,.,.	1/1:16:16:228,45,0,.,.,.	0/1:22:12:164,0,135,.,.,.	1/1:21:21:255,63,0,.,.,.	CAAAAAAA	CAAAAAAAAA,CAAAAAAAAAA	18	7	.	.	.	.		.	.	.	.	.	.	.	PM2
H	4	25265392	rs141109382	TGAA	T	180.6	PASS	PI4K2B	phosphatidylinositol 4-kinase type 2 beta	exonic	NM_018323	.	nonframeshift deletion	PI4K2B:NM_018323:exon7:c.1000_1002del:p.334_334del	ENST00000264864.6,ENST00000512921.1	.	4p15.2	.	.	Score=847;Name=V$CDP_02	.	.	rs141109382	.	.	0.0215947	0.0169	0.00339457	0.0121	0.0017	0.0219	0.0267993946401	0.0228365617788	.	.	.	.	.	.	.	.	.	.	0.142633,4.767	.	AC=5;AN=10;DP4=31,15,24,14;DP=99;HOB=0.5;ICB=1;IDV=5;IMF=0.3125;MQ0F=0;MQ=60;MQSB=1;SF=7,16,17,20,23;SGB=-0.590765;VDB=0.413038	GT:DP:DV:PL	.	.	.	.	.	.	.	0/1:15:5:206,0,255	.	.	.	.	.	.	.	.	0/1:17:13:255,0,142	0/1:10:4:179,0,219	.	.	0/1:18:10:255,0,255	.	.	0/1:24:6:176,0,255	.	TGAAGAA	TGAA	0	5	Phosphatidylinositol 4-kinase, type 2, beta	.	.	.	18316730|12324459|11923287	.	.	.	.	.	.	REACTOME_SYNTHESIS_OF_PIPS_AT_THE_EARLY_ENDOSOME_MEMBRANE;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_GOLGI_MEMBRANE;REACTOME_PHOSPHOLIPID_METABOLISM;REACTOME_SYNTHESIS_OF_PIPS_AT_THE_PLASMA_MEMBRANE;REACTOME_PI_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS	PM4
H	4	104007666	rs371187119	TTGA	T	221	PASS	BDH2	3-hydroxybutyrate dehydrogenase, type 2	exonic	NM_020139	.	nonframeshift deletion	BDH2:NM_020139:exon6:c.386_388del:p.129_130del	ENST00000296424.4	.	4q24	.	.	.	.	.	rs371187119	.	.	0.0199336	0.0208	0.00439297	.	0.0026	0.0336	0.0168453255743	0.0216346600962	.	.	.	.	.	.	.	.	.	.	3.466434,17.75	.	AC=1;AN=2;DP4=1,2,6,2;DP=13;HOB=0.5;ICB=1;IDV=10;IMF=0.769231;MQ0F=0;MQ=60;MQSB=0.964642;SF=20;SGB=-0.651104;VDB=0.152121	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:11:8:255,0,109	.	.	.	.	TTGAT	TT	0	1	.	.	.	.		LIPID_CATABOLIC_PROCESS;FATTY_ACID_BETA_OXIDATION;CARBOXYLIC_ACID_METABOLIC_PROCESS;FATTY_ACID_OXIDATION;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;ORGANIC_ACID_METABOLIC_PROCESS;MONOCARBOXYLIC_ACID_METABOLIC_PROCESS;CELLULAR_LIPID_CATABOLIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;FATTY_ACID_METABOLIC_PROCESS;CATABOLIC_PROCESS	CYTOPLASMIC_PART;CYTOPLASM;MITOCHONDRION	OXIDOREDUCTASE_ACTIVITY_GO_0016616;OXIDOREDUCTASE_ACTIVITY;COFACTOR_BINDING;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS;COENZYME_BINDING	KEGG_BUTANOATE_METABOLISM	.	.	.	PM4
L	4	140811063	rs774201781	TTGCTGCTGCTGC	T	202.26	PASS	MAML3	mastermind-like transcriptional coactivator 3	exonic	NM_018717	.	frameshift deletion	MAML3:NM_018717:exon3:c.1513_1514del:p.Q505fs	ENST00000327122.5,ENST00000509479.2,ENST00000398940.1	.	4q31.1	.	.	.	.	Score=666;Name="3494713:(CTG)n(Simple_repeat)"	rs774201781	.	.	.	.	.	.	0.0057	0.0020	.	0.108696	.	.	.	.	.	.	.	.	.	.	0.663946,7.557	.	AC=37,7;AN=46;DP4=8,4,367,243;DP=1016;HOB=0.5;ICB=1;IDV=17;IMF=0.404762;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692914;VDB=0.0261029	GT:DP:DV:PL	0/1:30:25:255,0,37,.,.,.	1/1:34:34:255,116,23,.,.,.	1/2:29:29:255,167,110,255,0,255	1/1:28:28:255,84,0,.,.,.	1/1:24:24:255,72,0,.,.,.	.	1/1:21:21:255,63,0,.,.,.	1/1:35:35:255,105,0,.,.,.	1/1:31:31:255,90,0,.,.,.	1/1:20:20:255,60,0,.,.,.	1/1:30:30:255,90,0,.,.,.	.	1/1:22:22:255,66,0,.,.,.	1/1:37:37:255,111,0,.,.,.	1/2:20:20:255,108,78,255,0,255	0/1:17:10:112,0,125,.,.,.	1/1:29:29:255,81,0,.,.,.	2/2:10:10:118,.,.,44,.,29	2/1:14:14:231,154,133,112,0,91	1/1:30:30:255,100,16,.,.,.	1/1:22:22:255,66,0,.,.,.	2/1:49:49:255,255,255,255,0,253	2/1:15:15:219,155,140,97,0,70	1/1:34:34:255,102,0,.,.,.	1/1:41:41:255,117,0,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	16	7	Mastermind-like 3	.	.	.	12386158|12370315|11347906	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NERVOUS_SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;NOTCH_SIGNALING_PATHWAY;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;DNA_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	.	.	REACTOME_PRE_NOTCH_TRANSCRIPTION_AND_TRANSLATION;REACTOME_PRE_NOTCH_EXPRESSION_AND_PROCESSING;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NOTCH_HLH_TRANSCRIPTION_PATHWAY;REACTOME_SIGNALING_BY_NOTCH	
L	4	169923361	rs774765614	GACAAAAA	G	51.98	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs774765614	.	.	.	.	.	.	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	1.545025,11.12	.	AC=2,4,3,3;AN=22;DP4=51,22,24,37;DP=236;HOB=0.5;ICB=1;IDV=4;IMF=0.25;MQ0F=0;MQ=60;MQSB=0.916482;SF=4,6,7,8,10,13,16,19,20,21,23;SGB=-0.616816;VDB=0.543076	GT:DP:DV:PL	.	.	.	.	0/2:10:6:.,.,.,.,.,88,.,.,.,.,.,.,.,.,.	.	4/4:5:4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,24	0/3:12:5:.,.,.,.,.,.,.,.,.,140,.,.,.,.,.	0/2:19:11:149,.,.,0,.,121,.,.,.,.,.,.,.,.,.	.	0/2:11:4:.,.,.,.,.,122,.,.,.,.,.,.,.,.,.	.	.	0/1:11:7:.,.,88,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:10:4:.,.,.,.,.,105,.,.,.,.,.,.,.,.,.	.	.	0/3:14:4:.,.,.,.,.,.,.,.,.,198,.,.,.,.,.	0/3:11:5:.,.,.,.,.,.,.,.,.,106,.,.,.,.,.	0/4:19:8:83,.,.,.,.,.,.,.,.,.,0,.,.,.,131	.	0/1:12:3:.,.,130,.,.,.,.,.,.,.,.,.,.,.,.	.	GACAAAAAAAA	GAAA,GAAAAA,GAAAA,GAAAAAA	1	10	.	.	.	.		.	.	.	.	.	.	.	PM2
L	4	169923361	rs771157609	GACAAA	G	51.98	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs771157609	.	.	.	.	.	.	0.0075	0.0031	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.542739,11.11	.	AC=2,4,3,3;AN=22;DP4=51,22,24,37;DP=236;HOB=0.5;ICB=1;IDV=4;IMF=0.25;MQ0F=0;MQ=60;MQSB=0.916482;SF=4,6,7,8,10,13,16,19,20,21,23;SGB=-0.616816;VDB=0.543076	GT:DP:DV:PL	.	.	.	.	0/2:10:6:.,.,.,.,.,88,.,.,.,.,.,.,.,.,.	.	4/4:5:4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,24	0/3:12:5:.,.,.,.,.,.,.,.,.,140,.,.,.,.,.	0/2:19:11:149,.,.,0,.,121,.,.,.,.,.,.,.,.,.	.	0/2:11:4:.,.,.,.,.,122,.,.,.,.,.,.,.,.,.	.	.	0/1:11:7:.,.,88,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:10:4:.,.,.,.,.,105,.,.,.,.,.,.,.,.,.	.	.	0/3:14:4:.,.,.,.,.,.,.,.,.,198,.,.,.,.,.	0/3:11:5:.,.,.,.,.,.,.,.,.,106,.,.,.,.,.	0/4:19:8:83,.,.,.,.,.,.,.,.,.,0,.,.,.,131	.	0/1:12:3:.,.,130,.,.,.,.,.,.,.,.,.,.,.,.	.	GACAAAAAAAA	GAAA,GAAAAA,GAAAA,GAAAAAA	1	10	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923361	rs746119021	GACAAAA	G	51.98	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs746119021	.	.	.	.	.	.	0.0047	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	1.541764,11.11	.	AC=2,4,3,3;AN=22;DP4=51,22,24,37;DP=236;HOB=0.5;ICB=1;IDV=4;IMF=0.25;MQ0F=0;MQ=60;MQSB=0.916482;SF=4,6,7,8,10,13,16,19,20,21,23;SGB=-0.616816;VDB=0.543076	GT:DP:DV:PL	.	.	.	.	0/2:10:6:.,.,.,.,.,88,.,.,.,.,.,.,.,.,.	.	4/4:5:4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,24	0/3:12:5:.,.,.,.,.,.,.,.,.,140,.,.,.,.,.	0/2:19:11:149,.,.,0,.,121,.,.,.,.,.,.,.,.,.	.	0/2:11:4:.,.,.,.,.,122,.,.,.,.,.,.,.,.,.	.	.	0/1:11:7:.,.,88,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:10:4:.,.,.,.,.,105,.,.,.,.,.,.,.,.,.	.	.	0/3:14:4:.,.,.,.,.,.,.,.,.,198,.,.,.,.,.	0/3:11:5:.,.,.,.,.,.,.,.,.,106,.,.,.,.,.	0/4:19:8:83,.,.,.,.,.,.,.,.,.,0,.,.,.,131	.	0/1:12:3:.,.,130,.,.,.,.,.,.,.,.,.,.,.,.	.	GACAAAAAAAA	GAAA,GAAAAA,GAAAA,GAAAAAA	1	10	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923361	rs749684365	GACAA	G	51.98	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs749684365	.	.	.	.	.	.	0.0055	0.0031	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.549651,11.14	.	AC=2,4,3,3;AN=22;DP4=51,22,24,37;DP=236;HOB=0.5;ICB=1;IDV=4;IMF=0.25;MQ0F=0;MQ=60;MQSB=0.916482;SF=4,6,7,8,10,13,16,19,20,21,23;SGB=-0.616816;VDB=0.543076	GT:DP:DV:PL	.	.	.	.	0/2:10:6:.,.,.,.,.,88,.,.,.,.,.,.,.,.,.	.	4/4:5:4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,24	0/3:12:5:.,.,.,.,.,.,.,.,.,140,.,.,.,.,.	0/2:19:11:149,.,.,0,.,121,.,.,.,.,.,.,.,.,.	.	0/2:11:4:.,.,.,.,.,122,.,.,.,.,.,.,.,.,.	.	.	0/1:11:7:.,.,88,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:10:4:.,.,.,.,.,105,.,.,.,.,.,.,.,.,.	.	.	0/3:14:4:.,.,.,.,.,.,.,.,.,198,.,.,.,.,.	0/3:11:5:.,.,.,.,.,.,.,.,.,106,.,.,.,.,.	0/4:19:8:83,.,.,.,.,.,.,.,.,.,0,.,.,.,131	.	0/1:12:3:.,.,130,.,.,.,.,.,.,.,.,.,.,.,.	.	GACAAAAAAAA	GAAA,GAAAAA,GAAAA,GAAAAAA	1	10	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923363	rs776478577	CAAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs776478577	.	.	.	.	.	.	0.0224	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	1.018752,9.161	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923363	rs763993253	CAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs763993253	.	.	.	.	.	.	0.0178	0.02	.	.	.	.	.	.	.	.	.	.	.	.	1.018752,9.161	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923363	.	CAAAAAAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984398,9.019	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	PM2
L	4	169923363	.	CAAAAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.014925,9.145	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	PM2
L	4	169923363	rs760599093	CAAAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	rs760599093	.	.	.	.	.	.	0.0195	0.0333	.	.	.	.	.	.	.	.	.	.	.	.	1.016795,9.153	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	
L	4	169923363	.	CAAAAAAAAA	C	34.49	PASS	CBR4	carbonyl reductase 4	splicing	NM_032783	.	.	.	ENST00000306193.3,ENST00000504480.1,ENST00000509108.1	.	4q32.3	.	.	.	.	Score=225;Name="3543128:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=10,7,1,1,7,1,1;AN=28;DP4=0,1,48,56;DP=261;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;MQSB=0.974597;SF=0,1,3,7,8,9,11,13,16,17,19,20,21,24;SGB=-0.662043;VDB=0.224157	GT:DP:DV:PL	5/2:9:9:82,.,.,52,.,43,.,.,.,.,.,.,.,.,.,40,.,0,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:7:7:91,47,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,54,0,.,.,.,.,48,.,.,.,.,.,.,.,.	.	1/1:8:8:106,32,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:5:5:70,.,.,32,.,23,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/7:10:10:119,.,.,64,.,46,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,70,.,0,.,.,.,.,64	1/1:6:6:62,20,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:73,35,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:8:8:97,23,8,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	4/5:7:6:93,.,.,.,.,.,.,.,.,.,46,.,.,.,47,46,.,.,.,0,47,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:6:6:76,.,.,40,.,31,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:6:6:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:5:5:88,56,50,.,.,.,.,.,.,.,.,.,.,.,.,40,0,.,.,.,34,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:103,.,.,62,.,47,68,.,0,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	5/5:8:8:78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,35,.,.,.,.,29,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	CAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	8	6	.	.	.	.		.	.	.	.	.	.	.	PM2
L	5	38528951	rs773735384	GACACAC	G	129.99	PASS	LIFR	leukemia inhibitory factor receptor alpha	splicing	NM_001127671,NM_002310	.	.	.	ENST00000503088.1,ENST00000263409.4,ENST00000453190.2	.	5p13.1	.	.	.	.	Score=318;Name="3642270:(CA)n(Simple_repeat)"	rs773735384	.	.	.	.	.	.	0.0027	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	-0.902490,0.433	.	AC=8,10,10,3,2,1;AN=36;DP4=2,6,39,77;DP=246;HOB=0.5;ICB=1;IDV=4;IMF=0.444444;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,5,6,9,10,11,12,14,15,16,17,18,19,20,22,24;SGB=-0.556411;VDB=0.446842	GT:DP:DV:PL	3/3:4:4:177,.,.,.,.,.,31,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/1:12:12:255,228,210,.,.,.,169,0,.,151,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:11:11:255,.,.,172,.,153,158,.,0,146,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:10:10:207,.,.,102,.,87,118,.,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:228,.,.,99,.,84,.,.,.,.,.,.,.,.,.,147,.,0,.,.,138,.,.,.,.,.,.,.	.	.	0/4:7:2:75,.,.,.,.,.,.,.,.,.,0,.,.,.,179,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:7:7:190,.,.,21,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/4:13:13:255,.,.,139,.,115,.,.,.,.,167,.,0,.,158,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:78,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/1:4:4:164,102,96,.,.,.,70,0,.,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:2:2:92,.,.,57,.,54,.,.,.,.,38,.,0,.,35,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:11:10:255,219,245,.,.,.,65,0,.,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:119,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:5:5:161,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:3:3:154,.,.,.,.,.,57,.,.,51,.,.,.,.,.,.,.,.,.,.,.,102,.,.,0,.,.,99	3/1:7:6:236,170,186,.,.,.,52,0,.,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:3:2:80,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,51,.,.,.,.,.,.,.	.	2/3:11:11:247,.,.,133,.,115,133,.,0,124,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GACACACACACACACACACACACACACACA	GACACACACACACACACACACACACACACACA,GACACACACACACACACACACACACACA,GACACACACACACACACACACACACACACACACA,GACACACACACACACACACACACA,GACACACACACACACACACACACACA,GACACACACACACACACACACACACACACACACACA	5	13	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)	.	.	.	25540807|24988918|18548006|18546280|14740318|8864865|8276403|7789261|1915266	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	.	.	.	
H	5	38528951	.	G	GACACAC	129.99	PASS	LIFR	leukemia inhibitory factor receptor alpha	splicing	NM_001127671,NM_002310	NM_001127671:exon3:c.143-9->GTGTGT;NM_002310:exon3:c.143-9->GTGTGT	.	.	ENST00000503088.1,ENST00000263409.4,ENST00000453190.2	.	5p13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=8,10,10,3,2,1;AN=36;DP4=2,6,39,77;DP=246;HOB=0.5;ICB=1;IDV=4;IMF=0.444444;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,5,6,9,10,11,12,14,15,16,17,18,19,20,22,24;SGB=-0.556411;VDB=0.446842	GT:DP:DV:PL	3/3:4:4:177,.,.,.,.,.,31,.,.,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/1:12:12:255,228,210,.,.,.,169,0,.,151,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:11:11:255,.,.,172,.,153,158,.,0,146,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:10:10:207,.,.,102,.,87,118,.,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:228,.,.,99,.,84,.,.,.,.,.,.,.,.,.,147,.,0,.,.,138,.,.,.,.,.,.,.	.	.	0/4:7:2:75,.,.,.,.,.,.,.,.,.,0,.,.,.,179,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:7:7:190,.,.,21,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/4:13:13:255,.,.,139,.,115,.,.,.,.,167,.,0,.,158,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:78,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/1:4:4:164,102,96,.,.,.,70,0,.,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:2:2:92,.,.,57,.,54,.,.,.,.,38,.,0,.,35,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:11:10:255,219,245,.,.,.,65,0,.,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:119,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:5:5:161,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:3:3:154,.,.,.,.,.,57,.,.,51,.,.,.,.,.,.,.,.,.,.,.,102,.,.,0,.,.,99	3/1:7:6:236,170,186,.,.,.,52,0,.,64,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:3:2:80,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,51,.,.,.,.,.,.,.	.	2/3:11:11:247,.,.,133,.,115,133,.,0,124,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GACACACACACACACACACACACACACACA	GACACACACACACACACACACACACACACACA,GACACACACACACACACACACACACACA,GACACACACACACACACACACACACACACACACA,GACACACACACACACACACACACA,GACACACACACACACACACACACACA,GACACACACACACACACACACACACACACACACACA	5	13	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)	.	.	.	25540807|24988918|18548006|18546280|14740318|8864865|8276403|7789261|1915266	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;HEMATOPOIETIN_INTERFERON_CLASSD200_DOMAIN_CYTOKINE_RECEPTOR_ACTIVITY	KEGG_CYTOKINE_CYTOKINE_RECEPTOR_INTERACTION;KEGG_JAK_STAT_SIGNALING_PATHWAY	.	.	.	
L	5	112824045	.	C	CGCT	218.5	PASS	MCC	mutated in colorectal cancers	exonic	NM_001085377	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.66_67insAGC:p.G23delinsSG	ENST00000408903.3	CpG: 86	5q22.2	.	.	.	.	Score=323;Name="3759429:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=4;DP4=23,7,47,41;DP=190;HOB=0.5;ICB=1;IDV=2;IMF=0.0206186;MQ0F=0;MQ=60;MQSB=1;SF=10,20;SGB=-0.693145;VDB=0.329063	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	0/1:56:41:250,0,154	.	.	.	.	.	.	.	.	.	0/1:62:47:255,0,139	.	.	.	.	CGCTGC	CGCTGCTGC	0	2	Colorectal cancer, somatic, 114500 (3)	.	.	.	1848370|1678319|1354644|1315124	SIGNAL_TRANSDUCTION	.	RECEPTOR_ACTIVITY	.	.	.	.	PM2
L	5	112824066	.	C	CGCG	195	PASS	MCC	mutated in colorectal cancers	exonic	NM_001085377	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.45_46insCGC:p.G16delinsRG	ENST00000408903.3	CpG: 86	5q22.2	.	.	.	.	Score=323;Name="3759429:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,2;AN=4;DP4=0,8,47,50;DP=155;HOB=0.5;ICB=1;IDV=2;IMF=0.0285714;MQ0F=0;MQ=60;MQSB=1;SF=8,20;SGB=-0.693147;VDB=0.079873	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:50:46:.,.,10,.,.,.	.	.	.	.	.	.	.	.	.	.	.	2/2:55:51:255,.,.,57,.,0	.	.	.	.	CGCTGCTG	CGCGGCTGCTG,CGCTGCTGCTG	1	1	Colorectal cancer, somatic, 114500 (3)	.	.	.	1848370|1678319|1354644|1315124	SIGNAL_TRANSDUCTION	.	RECEPTOR_ACTIVITY	.	.	.	.	PM2
L	5	112824066	rs767876356	C	CGCT	195	PASS	MCC	mutated in colorectal cancers	exonic	NM_001085377	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.45_46insAGC:p.G16delinsSG	ENST00000408903.3	CpG: 86	5q22.2	.	.	.	.	Score=323;Name="3759429:(CCG)n(Simple_repeat)"	rs767876356	.	.	.	.	.	.	3.625e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,2;AN=4;DP4=0,8,47,50;DP=155;HOB=0.5;ICB=1;IDV=2;IMF=0.0285714;MQ0F=0;MQ=60;MQSB=1;SF=8,20;SGB=-0.693147;VDB=0.079873	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:50:46:.,.,10,.,.,.	.	.	.	.	.	.	.	.	.	.	.	2/2:55:51:255,.,.,57,.,0	.	.	.	.	CGCTGCTG	CGCGGCTGCTG,CGCTGCTGCTG	1	1	Colorectal cancer, somatic, 114500 (3)	.	.	.	1848370|1678319|1354644|1315124	SIGNAL_TRANSDUCTION	.	RECEPTOR_ACTIVITY	.	.	.	.	PM2
H	5	146258290	.	A	AGCTGCTGCTGCTGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCAGCAGCAGCAGC:p.C20delinsSSSSSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	.	.	.	.	.	.	.	.	.	.	0.156522	.	.	.	.	.	.	.	.	.	.	1.130973,9.610	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
H	5	146258290	rs142461655	A	AGCTGCTGCTGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCAGCAGCAGC:p.C20delinsSSSSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	rs142461655	CLINSIG=Uncertain significance;CLNDBN=not_specified;CLNACC=RCV000203056.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	.	.	.	0.0826087	.	.	.	.	.	.	.	.	.	.	1.156963,9.711	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
H	5	146258290	rs142461655	A	AGCTGCTGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCAGCAGC:p.C20delinsSSSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	rs142461655	CLINSIG=Uncertain significance;CLNDBN=not_specified;CLNACC=RCV000203056.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	.	.	.	0.0652174	.	.	.	.	.	.	.	.	.	.	1.182954,9.810	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
H	5	146258290	.	A	AGCAGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCTGC:p.C20delinsSSCC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM2,PM4
H	5	146258290	.	A	AGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGC:p.C20delinsSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.234934,10.02	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
H	5	146258290	.	A	AGCTGCTGCTGCTGCTGCTGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCAGCAGCAGCAGCAGCAGC:p.C20delinsSSSSSSSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	.	.	.	.	.	.	.	.	.	.	0.0304348	.	.	.	.	.	.	.	.	.	.	.	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
H	5	146258290	rs57408722	A	AGCTGCTGCTGCTGCTGCTGCT	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift insertion	PPP2R2B:NM_181675:exon1:c.57_58insAGCAGCAGCAGCAGCAGCAGC:p.C20delinsSSSSSSSC	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	.	rs57408722	.	.	.	.	.	.	.	.	.	0.0565217	.	.	.	.	.	.	.	.	.	.	1.104983,9.508	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	PM4
L	5	146258290	rs10591869	AGCT	A	160.5	PASS	PPP2R2B	protein phosphatase 2, regulatory subunit B, beta	exonic	NM_181675	.	nonframeshift deletion	PPP2R2B:NM_181675:exon1:c.55_57del:p.19_19del	ENST00000356826.3,ENST00000394411.4,ENST00000504198.1,ENST00000394414.1,ENST00000453001.1,ENST00000530902.1,ENST00000394410.2,ENST00000336640.6,ENST00000394409.3,ENST00000508545.2	CpG: 97	5q32	.	.	Score=954;Name=V$AP4_Q6	.	Score=288;Name="3817266:(CTG)n(Simple_repeat)"	rs10591869	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	1.219848,9.950	.	AC=11,6,3,1,2,9,1,2,1;AN=42;DP4=15,25,24,105;DP=384;HOB=0.5;ICB=1;IDV=6;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,8,9,10,11,12,13,14,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.642091	GT:DP:DV:PL	0/9:14:6:215,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,255	0/1:15:6:180,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/2:6:6:255,.,.,144,.,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,124,.,0,.,.,.,.,.,115,.,.,.,.,.,.,.,.,.,.	.	3/1:8:8:255,188,179,.,.,.,162,0,.,147,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:4:170,.,.,.,.,.,0,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:14:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:10:10:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,105,.,.,.,.,.,81,255,.,.,.,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:4:4:152,.,.,.,.,.,.,.,.,.,56,.,.,.,50,101,.,.,.,0,98,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:4:4:184,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/8:8:8:255,.,.,160,.,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,174,.,0,.,.,.,.,.,165,.,.,.,.,.,.,.,.,.,.	6/5:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,248,102,.,.,.,.,0,78,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/1:11:11:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,113,0,.,.,.,.,89,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:9:4:106,.,.,0,.,208,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/6:9:9:255,.,.,141,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,204,.,0,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:7:7:255,142,133,134,0,125,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:3:3:170,9,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:6:6:255,57,42,246,0,243,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:2:2:120,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:5:5:255,15,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:8:3:70,.,.,.,.,.,0,.,.,222,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCAGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,AGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	5	16	Spinocerebellar ataxia 12, 604326 (3)	.	.	.	20533062|16138911|11198281|10581021|10464280|10322434|9852076|9582351|9403486|8382567|8348150|1849734	.	.	PROTEIN_PHOSPHATASE_TYPE_2A_REGULATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;PHOSPHATASE_REGULATOR_ACTIVITY	KEGG_TIGHT_JUNCTION	PID_ATR_PATHWAY;PID_PDGFRBPATHWAY	BIOCARTA_CHREBP2_PATHWAY	.	
L	5	178772259	rs752142266	GGCA	G	210.29	PASS	ADAMTS2	ADAM metallopeptidase with thrombospondin type 1 motif, 2	exonic	NM_014244,NM_021599	.	nonframeshift deletion	ADAMTS2:NM_014244:exon1:c.68_70del:p.23_24del,ADAMTS2:NM_021599:exon1:c.68_70del:p.23_24del	ENST00000274609.5,ENST00000251582.7	CpG: 205	5q35.3	.	.	.	.	Score=303;Name="3882978:(CAG)n(Simple_repeat)"	rs752142266	.	.	.	.	.	0.0450	0.0233	0	.	0.0130435	.	.	.	.	.	.	.	.	.	.	-0.899969,0.438	.	AC=13,1;AN=28;DP4=73,61,110,114;DP=481;HOB=0.5;ICB=1;IDV=22;IMF=0.6875;MQ0F=0;MQ=60;MQSB=1;SF=1,3,6,7,8,9,10,11,14,17,20,22,23,24;SGB=-0.692976;VDB=0.177195	GT:DP:DV:PL	.	0/1:28:26:255,0,30,.,.,.	.	0/1:24:15:255,0,255,.,.,.	.	.	0/1:23:14:255,0,255,.,.,.	0/1:36:21:255,0,255,.,.,.	0/1:27:15:255,0,255,.,.,.	0/1:20:11:255,0,251,.,.,.	0/1:29:25:255,0,32,.,.,.	0/1:31:26:255,0,124,.,.,.	.	.	0/1:27:14:255,0,255,.,.,.	.	.	0/1:19:10:255,0,255,.,.,.	.	.	0/1:30:16:255,0,255,.,.,.	.	0/2:16:4:105,.,.,0,.,255	0/1:28:17:255,0,255,.,.,.	0/1:20:10:255,0,255,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGC	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,GGCAGCAGCAGCAGCAGCAGCAGC	0	14	Ehlers-Danlos syndrome, type VIIC, 225410 (3)	.	.	.	16046392|15373769|10464288|10417273	.	.	METALLOPEPTIDASE_ACTIVITY;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;METALLOENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	6	16327864	rs751421308	GTGC	G	213.35	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.675_677del:p.225_226del,ATXN1:NM_000332:exon8:c.675_677del:p.225_226del	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	Score=760;Name=V$PAX5_01	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs751421308	.	.	.	.	.	.	0.0185	0.0220	.	0.0565217	.	.	.	.	.	.	.	.	.	.	-1.068658,0.174	.	AC=22,6,1,1;AN=40;DP4=42,43,160,199;DP=949;HOB=0.5;ICB=1;IDV=5;IMF=0.121951;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,8,9,10,11,12,15,16,17,18,20,21,22,23,24;SGB=-0.670168;VDB=0.0194315	GT:DP:DV:PL	0/1:16:10:205,0,97,.,.,.,.,.,.,.,.,.,.,.,.	1/1:31:31:255,93,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:32:15:255,0,202,.,.,.,.,.,.,.,.,.,.,.,.	0/1:26:14:255,0,151,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:27:16:255,0,147,.,.,.,.,.,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:13:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.,.,.,.,.,.	4/2:9:9:255,.,.,255,.,255,.,.,.,.,110,.,0,.,92	0/3:30:23:255,.,.,.,.,.,0,.,.,64,.,.,.,.,.	.	.	1/1:27:27:255,78,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:32:28:255,.,.,0,.,5,.,.,.,.,.,.,.,.,.	1/2:19:18:255,128,140,255,0,255,.,.,.,.,.,.,.,.,.	0/2:10:8:255,.,.,0,.,30,.,.,.,.,.,.,.,.,.	.	1/1:22:22:255,66,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:35:30:255,0,97,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:5:210,0,30,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:8:238,0,139,.,.,.,.,.,.,.,.,.,.,.,.	1/2:26:25:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	7	13	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
H	6	16327864	rs769091061	G	GTGCTGC	213.35	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.677_678insGCAGCA:p.H226delinsQQH,ATXN1:NM_000332:exon8:c.677_678insGCAGCA:p.H226delinsQQH	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	Score=760;Name=V$PAX5_01	.	.	rs769091061	.	.	.	.	.	.	0.0121	0.0033	.	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=22,6,1,1;AN=40;DP4=42,43,160,199;DP=949;HOB=0.5;ICB=1;IDV=5;IMF=0.121951;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,8,9,10,11,12,15,16,17,18,20,21,22,23,24;SGB=-0.670168;VDB=0.0194315	GT:DP:DV:PL	0/1:16:10:205,0,97,.,.,.,.,.,.,.,.,.,.,.,.	1/1:31:31:255,93,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:32:15:255,0,202,.,.,.,.,.,.,.,.,.,.,.,.	0/1:26:14:255,0,151,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:27:16:255,0,147,.,.,.,.,.,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:13:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.,.,.,.,.,.	4/2:9:9:255,.,.,255,.,255,.,.,.,.,110,.,0,.,92	0/3:30:23:255,.,.,.,.,.,0,.,.,64,.,.,.,.,.	.	.	1/1:27:27:255,78,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:32:28:255,.,.,0,.,5,.,.,.,.,.,.,.,.,.	1/2:19:18:255,128,140,255,0,255,.,.,.,.,.,.,.,.,.	0/2:10:8:255,.,.,0,.,30,.,.,.,.,.,.,.,.,.	.	1/1:22:22:255,66,0,.,.,.,.,.,.,.,.,.,.,.,.	0/1:35:30:255,0,97,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:5:210,0,30,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:8:238,0,139,.,.,.,.,.,.,.,.,.,.,.,.	1/2:26:25:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,GTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGATGCTGATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	7	13	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	PM4
L	6	16327894	rs766029394	C	CTGA	132.46	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCA:p.Q216delinsHQ,ATXN1:NM_000332:exon8:c.647_648insTCA:p.Q216delinsHQ	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs766029394	.	.	.	.	.	.	0.0002	0.0030	.	0.1	.	.	.	.	.	.	.	.	.	.	.	.	AC=6,2;AN=8;DP4=1,0,25,33;DP=163;IDV=10;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=1,8,10,20;SGB=-0.693021;VDB=0.103465	GT:DP:DV:PL	.	1/1:28:27:255,53,0,.,.,.	.	.	.	.	.	.	1/1:5:5:75,15,0,.,.,.	.	1/1:3:3:53,9,0,.,.,.	.	.	.	.	.	.	.	.	.	2/2:23:23:255,.,.,69,.,0	.	.	.	.	CTG	CTGATG,CTGATGCTGATG	4	0	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	6	16327894	rs766029394	C	CTGATGCTGA	132.46	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCAGCATCA:p.Q216delinsHQHQ,ATXN1:NM_000332:exon8:c.647_648insTCAGCATCA:p.Q216delinsHQHQ	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs766029394	.	.	.	.	.	.	6.609e-05	0.0015	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=6,2;AN=8;DP4=1,0,25,33;DP=163;IDV=10;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=1,8,10,20;SGB=-0.693021;VDB=0.103465	GT:DP:DV:PL	.	1/1:28:27:255,53,0,.,.,.	.	.	.	.	.	.	1/1:5:5:75,15,0,.,.,.	.	1/1:3:3:53,9,0,.,.,.	.	.	.	.	.	.	.	.	.	2/2:23:23:255,.,.,69,.,0	.	.	.	.	CTG	CTGATG,CTGATGCTGATG	4	0	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	6	16327915	rs797045409	ATGC	A	199.81	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift deletion	ATXN1:NM_001128164:exon7:c.624_626del:p.208_209del,ATXN1:NM_000332:exon8:c.624_626del:p.208_209del	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs797045409	CLINSIG=Uncertain significance;CLNDBN=not_specified;CLNACC=RCV000194686.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	.	.	.	0.221739	.	.	.	.	.	.	.	.	.	.	0.196960,5.061	.	AC=18,14;AN=42;DP4=33,24,165,127;DP=695;HOB=0.5;ICB=1;IDV=10;IMF=0.454545;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,18,19,20,22,23,24;SGB=-0.670168;VDB=0.0232599	GT:DP:DV:PL	1/2:10:10:255,173,154,237,0,225	0/2:9:8:203,.,.,0,.,32	2/1:29:28:255,255,255,255,0,255	0/1:11:9:151,0,28,.,.,.	1/1:21:20:255,46,0,.,.,.	0/1:20:14:193,0,152,.,.,.	2/2:15:15:255,.,.,45,.,0	1/1:23:22:255,9,0,.,.,.	0/2:16:15:255,.,.,0,.,8	0/1:10:9:255,28,63,.,.,.	.	0/1:22:8:238,0,255,.,.,.	2/1:27:27:255,255,255,255,0,255	1/1:23:23:255,69,0,.,.,.	0/1:12:11:255,6,27,.,.,.	2/2:10:10:255,.,.,30,.,0	.	.	0/1:23:9:255,0,255,.,.,.	0/1:17:16:255,0,9,.,.,.	2/2:7:7:255,.,.,21,.,0	.	2/1:8:8:255,202,190,149,0,137	1/2:20:17:255,63,83,255,0,255	0/2:16:6:171,.,.,0,.,255	ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	6	15	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	6	16327915	rs864309555	A	ATGC	199.81	PASS	ATXN1	ataxin 1	exonic	NM_000332,NM_001128164	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.626_627insGCA:p.H209delinsQH,ATXN1:NM_000332:exon8:c.626_627insGCA:p.H209delinsQH	ENST00000244769.4,ENST00000436367.1	.	6p22.3	.	.	.	.	Score=753;Name="3916422:(CTG)n(Simple_repeat)"	rs864309555	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000202699.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	.	.	.	0.0565217	.	.	.	.	.	.	.	.	.	.	-1.113050,0.131	.	AC=18,14;AN=42;DP4=33,24,165,127;DP=695;HOB=0.5;ICB=1;IDV=10;IMF=0.454545;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,18,19,20,22,23,24;SGB=-0.670168;VDB=0.0232599	GT:DP:DV:PL	1/2:10:10:255,173,154,237,0,225	0/2:9:8:203,.,.,0,.,32	2/1:29:28:255,255,255,255,0,255	0/1:11:9:151,0,28,.,.,.	1/1:21:20:255,46,0,.,.,.	0/1:20:14:193,0,152,.,.,.	2/2:15:15:255,.,.,45,.,0	1/1:23:22:255,9,0,.,.,.	0/2:16:15:255,.,.,0,.,8	0/1:10:9:255,28,63,.,.,.	.	0/1:22:8:238,0,255,.,.,.	2/1:27:27:255,255,255,255,0,255	1/1:23:23:255,69,0,.,.,.	0/1:12:11:255,6,27,.,.,.	2/2:10:10:255,.,.,30,.,0	.	.	0/1:23:9:255,0,255,.,.,.	0/1:17:16:255,0,9,.,.,.	2/2:7:7:255,.,.,21,.,0	.	2/1:8:8:255,202,190,149,0,137	1/2:20:17:255,63,83,255,0,255	0/2:16:6:171,.,.,0,.,255	ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,ATGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	6	15	Spinocerebellar ataxia 1, 164400 (3)	.	.	.	23760502|22053053|21475249|20869591|18337722|17322884|17190598|17110330|16713569|16497448|16121196|15317756|15016912|12952864|12757932|12757707|12741986|12651867|12374759|12062018|11973625|11673415|11136710|11001934|10624951|9778239|9353121|9353120|8789437|8751875|8358429|8275090|8198139|8111382|8088851|7951322|7647801	NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;ESTABLISHMENT_OF_LOCALIZATION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTRACELLULAR_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;NUCLEAR_TRANSPORT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;NUCLEAR_EXPORT;TRANSPORT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_LOCALIZATION;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_TRANSCRIPTION;NUCLEOCYTOPLASMIC_TRANSPORT	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;CYTOPLASM;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;NUCLEAR_MATRIX;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	IDENTICAL_PROTEIN_BINDING;RNA_BINDING;TRANSCRIPTION_REPRESSOR_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;SINGLE_STRANDED_RNA_BINDING	.	.	.	.	
L	6	29429912	rs538200065	GGCTGTCT	G	222	PASS	OR2H1	olfactory receptor, family 2, subfamily H, member 1	exonic	NM_030883	.	frameshift deletion	OR2H1:NM_030883:exon3:c.367_373del:p.A123fs	ENST00000377136.1,ENST00000377133.1,ENST00000377132.1,ENST00000473369.1,ENST00000396792.2,ENST00000442615.1	.	6p22.1	.	.	Score=704;Name=V$BRACH_01	Score=0.90484;Name=chr6:29555421	.	rs538200065	.	.	0.0215947	0.0238	0.00838658	.	0.0031	0.0191	0.0215947	0.018028856851	.	.	.	.	.	.	.	.	.	.	3.291243,17.06	.	AC=2;AN=4;DP4=44,45,34,41;DP=173;HOB=0.5;ICB=1;IDV=33;IMF=0.402439;MQ0F=0;MQ=60;MQSB=1;SF=14,20;SGB=-0.693132;VDB=0.0637425	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:34:255,0,255	.	.	.	.	.	0/1:85:41:255,0,255	.	.	.	.	GGCTGTCTGC	GGC	0	2	.	.	.	.		.	.	.	KEGG_OLFACTORY_TRANSDUCTION	.	.	REACTOME_SIGNALING_BY_GPCR;REACTOME_OLFACTORY_SIGNALING_PATHWAY;REACTOME_GPCR_DOWNSTREAM_SIGNALING	
H	6	34735677	.	C	CTCATA	165.5	PASS	SNRPC	small nuclear ribonucleoprotein polypeptide C	splicing	NM_003093	NM_003093:exon4:c.161-8->TCATA	.	.	ENST00000374017.3,ENST00000244520.5,ENST00000374018.1,ENST00000474635.1	.	6p21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,1;AN=8;DP4=17,5,26,5;DP=126;HOB=0.5;ICB=1;IDV=3;IMF=0.130435;MQ0F=0;MQ=60;MQSB=1;SF=3,12,20,23;SGB=-0.636426;VDB=0.820841	GT:DP:DV:PL	.	.	.	0/1:9:7:251,0,31,.,.,.	.	.	.	.	.	.	.	.	0/1:19:7:217,0,255,.,.,.	.	.	.	.	.	.	.	0/2:8:4:.,.,.,.,.,76	.	.	0/1:17:13:255,0,54,.,.,.	.	CTC	CTCATATC,CACAAATC	0	4	Small nuclear ribonucleoprotein polypeptide C	.	.	.	12214237|9031639|2971157|2961811	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;RNA_SPLICING	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;SMALL_NUCLEAR_RIBONUCLEOPROTEIN_COMPLEX;NUCLEAR_PART;NUCLEUS;SPLICEOSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX	.	KEGG_SPLICEOSOME	.	.	.	PM2
H	6	34735677	.	C	CACAAA	165.5	PASS	SNRPC	small nuclear ribonucleoprotein polypeptide C	splicing	NM_003093	NM_003093:exon4:c.161-8->ACAAA	.	.	ENST00000374017.3,ENST00000244520.5,ENST00000374018.1,ENST00000474635.1	.	6p21.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,1;AN=8;DP4=17,5,26,5;DP=126;HOB=0.5;ICB=1;IDV=3;IMF=0.130435;MQ0F=0;MQ=60;MQSB=1;SF=3,12,20,23;SGB=-0.636426;VDB=0.820841	GT:DP:DV:PL	.	.	.	0/1:9:7:251,0,31,.,.,.	.	.	.	.	.	.	.	.	0/1:19:7:217,0,255,.,.,.	.	.	.	.	.	.	.	0/2:8:4:.,.,.,.,.,76	.	.	0/1:17:13:255,0,54,.,.,.	.	CTC	CTCATATC,CACAAATC	0	4	Small nuclear ribonucleoprotein polypeptide C	.	.	.	12214237|9031639|2971157|2961811	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RNA_PROCESSING;RNA_SPLICING	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;SMALL_NUCLEAR_RIBONUCLEOPROTEIN_COMPLEX;NUCLEAR_PART;NUCLEUS;SPLICEOSOME;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX	.	KEGG_SPLICEOSOME	.	.	.	PM2
L	6	82461727	rs754008809	A	ACCGCCGAAGTCGCCG	183.88	PASS	FAM46A	family with sequence similarity 46, member A	exonic	NM_017633	.	nonframeshift insertion	FAM46A:NM_017633:exon2:c.131_132insCGGCGACTTCGGCGG:p.G44delinsGGDFGG	ENST00000320172.6,ENST00000369756.3,ENST00000369754.3	CpG: 214	6q14.1	.	.	.	.	Score=258;Name="4027647:(CCG)n(Simple_repeat)"	rs754008809	.	.	.	.	.	.	0.0004	0.0025	.	0.53913	.	.	.	.	.	.	.	.	.	.	.	.	AC=28,5;AN=34;DP4=2,6,45,79;DP=604;HOB=0.5;ICB=1;IDV=2;IMF=0.1;MQ0F=0;MQ=60;MQSB=1;SF=0,4,5,6,7,8,9,10,12,14,15,16,19,20,22,23,24;SGB=-0.453602;VDB=0.1	GT:DP:DV:PL	1/1:2:2:120,6,0,.,.,.	.	.	.	1/1:2:2:110,6,0,.,.,.	1/1:13:13:255,39,0,.,.,.	1/1:2:2:110,6,0,.,.,.	1/1:6:6:255,18,0,.,.,.	1/1:4:4:184,12,0,.,.,.	1/1:2:2:110,6,0,.,.,.	1/1:5:5:255,15,0,.,.,.	.	1/1:9:9:255,27,0,.,.,.	.	1/1:4:4:220,12,0,.,.,.	1/1:9:9:255,27,0,.,.,.	2/1:10:10:255,210,201,162,0,141	.	.	0/2:18:10:255,.,.,0,.,135	1/1:8:8:255,24,0,.,.,.	.	1/2:7:7:253,125,116,143,0,131	1/1:9:9:255,27,0,.,.,.	2/2:22:22:255,.,.,66,.,0	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCC	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCC,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCC	14	3	.	.	.	.		.	.	.	.	.	.	.	
L	6	96034869	rs113485216	G	GTA	206.72	PASS	MANEA	mannosidase, endo-alpha	splicing	NM_024641	NM_024641:exon2:c.544+10->TA	.	.	ENST00000358812.4,ENST00000369293.1	.	6q16.1	.	.	.	.	Score=215;Name="4049529:(TATATG)n(Simple_repeat)"	rs113485216	.	.	.	.	.	.	0.0055	0.0417	0.0170455	.	.	.	.	.	.	.	.	.	.	.	1.962220,12.52	.	AC=25,6,2;AN=36;DP4=12,23,137,253;DP=573;HOB=0.5;ICB=1;IDV=16;IMF=0.380952;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,9,11,12,14,17,18,19,20,22,23,24;SGB=-0.690438;VDB=0.0028193	GT:DP:DV:PL	0/1:33:17:255,0,255,.,.,.,.,.,.,.	1/2:26:26:255,119,49,255,0,255,.,.,.,.	1/3:27:27:255,113,44,.,.,.,255,0,.,255	1/2:23:23:255,148,94,255,0,255,.,.,.,.	.	1/1:31:30:255,49,24,.,.,.,.,.,.,.	1/2:24:24:255,167,107,255,0,255,.,.,.,.	1/1:31:31:255,84,0,.,.,.,.,.,.,.	.	1/2:24:24:255,114,51,255,0,255,.,.,.,.	.	1/1:21:21:255,63,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	.	1/3:24:24:255,206,152,.,.,.,255,0,.,255	.	.	0/1:17:11:255,0,211,.,.,.,.,.,.,.	1/2:27:27:255,154,85,255,0,255,.,.,.,.	0/1:27:15:255,0,255,.,.,.,.,.,.,.	1/2:31:31:255,122,41,255,0,255,.,.,.,.	.	1/1:10:10:255,30,0,.,.,.,.,.,.,.	1/1:19:19:255,82,33,.,.,.,.,.,.,.	1/1:14:14:255,57,18,.,.,.,.,.,.,.	GTATATATATATAT	GTATATATATATATATAT,GTATATATATATATAT,GTATATATATATATATATAT	7	11	Mannosidase, endo-alpha	.	.	.	15760709|15677381	.	.	.	.	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_TRANSPORT_TO_THE_GOLGI_AND_SUBSEQUENT_MODIFICATION	
L	6	96034869	rs528653116	G	GTATATA	206.72	PASS	MANEA	mannosidase, endo-alpha	splicing	NM_024641	NM_024641:exon2:c.544+10->TATATA	.	.	ENST00000358812.4,ENST00000369293.1	.	6q16.1	.	.	.	.	Score=215;Name="4049529:(TATATG)n(Simple_repeat)"	rs528653116	.	.	0	0.001	0.00119808	.	0.0006	0.0011	0.00284091	.	.	.	.	.	.	.	.	.	.	.	0.243390,5.315	.	AC=25,6,2;AN=36;DP4=12,23,137,253;DP=573;HOB=0.5;ICB=1;IDV=16;IMF=0.380952;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,9,11,12,14,17,18,19,20,22,23,24;SGB=-0.690438;VDB=0.0028193	GT:DP:DV:PL	0/1:33:17:255,0,255,.,.,.,.,.,.,.	1/2:26:26:255,119,49,255,0,255,.,.,.,.	1/3:27:27:255,113,44,.,.,.,255,0,.,255	1/2:23:23:255,148,94,255,0,255,.,.,.,.	.	1/1:31:30:255,49,24,.,.,.,.,.,.,.	1/2:24:24:255,167,107,255,0,255,.,.,.,.	1/1:31:31:255,84,0,.,.,.,.,.,.,.	.	1/2:24:24:255,114,51,255,0,255,.,.,.,.	.	1/1:21:21:255,63,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	.	1/3:24:24:255,206,152,.,.,.,255,0,.,255	.	.	0/1:17:11:255,0,211,.,.,.,.,.,.,.	1/2:27:27:255,154,85,255,0,255,.,.,.,.	0/1:27:15:255,0,255,.,.,.,.,.,.,.	1/2:31:31:255,122,41,255,0,255,.,.,.,.	.	1/1:10:10:255,30,0,.,.,.,.,.,.,.	1/1:19:19:255,82,33,.,.,.,.,.,.,.	1/1:14:14:255,57,18,.,.,.,.,.,.,.	GTATATATATATAT	GTATATATATATATATAT,GTATATATATATATAT,GTATATATATATATATATAT	7	11	Mannosidase, endo-alpha	.	.	.	15760709|15677381	.	.	.	.	.	.	REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION;REACTOME_ASPARAGINE_N_LINKED_GLYCOSYLATION;REACTOME_TRANSPORT_TO_THE_GOLGI_AND_SUBSEQUENT_MODIFICATION	
H	6	109767031	rs777816264	ACT	A	222	PASS	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	exonic	NM_001159291,NM_001286613,NM_022765	.	frameshift deletion	MICAL1:NM_001159291:exon19:c.2356_2357del:p.S786fs,MICAL1:NM_001286613:exon20:c.2671_2672del:p.S891fs,MICAL1:NM_022765:exon20:c.2614_2615del:p.S872fs	ENST00000358577.3,ENST00000368952.4,ENST00000358807.3	.	6q21	.	.	.	.	.	rs777816264	.	.	.	.	.	.	0.0001	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	5.512969,35	.	AC=1;AN=2;DP4=6,9,7,9;DP=39;HOB=0.5;ICB=1;IDV=19;IMF=0.487179;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.689466;VDB=0.0864758	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:31:16:255,0,255	.	.	.	.	ACTCTCT	ACTCT	0	1	Microtubule-associated monooxygenase, calponin and LIM domains-containing 1	.	.	.	22116028|20148037|12110185|11827972	.	CYTOPLASM	PROTEIN_DOMAIN_SPECIFIC_BINDING;SH3_DOMAIN_BINDING	.	.	.	.	
H	6	111279974	rs531916846	T	TGGC	222	PASS	GTF3C6	general transcription factor IIIC, polypeptide 6, alpha 35kDa	exonic	NM_138408	.	nonframeshift insertion	GTF3C6:NM_138408:exon1:c.2_3insGGC:p.M1delinsMA	ENST00000329970.7	CpG: 61	6q21	.	.	.	.	.	rs531916846	.	.	0.0182724	0.0169	0.00439297	0.0008	0.0015	0.0196	0.0182724	0.0156249811298	.	.	.	.	.	.	.	.	.	.	1.119133,9.564	.	AC=2;AN=4;DP4=42,13,26,25;DP=141;HOB=0.5;ICB=1;IDV=35;IMF=0.454545;MQ0F=0;MQ=60;MQSB=1;SF=13,20;SGB=-0.693132;VDB=0.000375606	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:58:34:255,0,255	.	.	.	.	.	.	0/1:48:17:255,0,255	.	.	.	.	TGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	0	2	General transcription factor 3C, polypeptide 6	.	.	.	17409385	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	DNA_BINDING	.	.	.	.	PM4
H	6	132168996	rs765225295	G	GGT	133.89	PASS	ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	splicing	NM_006208	NM_006208:exon2:c.313+8->GT	.	.	ENST00000360971.2	.	6q23.2	.	.	.	.	.	rs765225295	.	.	.	.	.	.	.	.	.	0.234783	.	.	.	.	.	.	.	.	.	.	0.097389,4.525	.	AC=14,7,3,1;AN=40;DP4=40,50,59,145;DP=622;HOB=0.5;ICB=1;IDV=2;IMF=0.1;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,5,6,7,8,9,10,11,13,15,16,17,18,19,20,21,23,24;SGB=-0.453602;VDB=0.778312	GT:DP:DV:PL	.	0/1:5:2:71,0,95,.,.,.,.,.,.,.,.,.,.,.,.	1/3:12:10:171,37,90,.,.,.,77,0,.,135,.,.,.,.,.	.	0/1:12:9:208,0,78,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:13:180,0,121,.,.,.,.,.,.,.,.,.,.,.,.	1/3:11:8:212,55,86,.,.,.,123,0,.,155,.,.,.,.,.	0/2:15:12:155,.,.,0,.,68,.,.,.,.,.,.,.,.,.	0/2:18:11:151,.,.,0,.,202,.,.,.,.,.,.,.,.,.	0/2:13:8:105,.,.,0,.,154,.,.,.,.,.,.,.,.,.	0/2:20:11:132,.,.,0,.,185,.,.,.,.,.,.,.,.,.	0/1:15:6:93,0,190,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:148,24,9,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:19:12:255,0,136,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:11:250,.,.,.,.,.,.,.,.,.,3,.,.,.,60	0/2:11:5:99,.,.,0,.,133,.,.,.,.,.,.,.,.,.	1/1:8:8:255,24,0,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:15:165,.,.,0,.,105,.,.,.,.,.,.,.,.,.	0/1:21:10:172,0,206,.,.,.,.,.,.,.,.,.,.,.,.	0/1:16:14:206,11,50,.,.,.,.,.,.,.,.,.,.,.,.	.	2/1:14:12:171,89,127,48,0,81,.,.,.,.,.,.,.,.,.	0/3:24:20:255,.,.,.,.,.,12,.,.,68,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	2	18	{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3)	.	.	.	24075184|22209248|20137773|20137772|20016754|19380683|19206175|16968801|16609882|16607460|16025115|15940697|15677494|15605415|15126519|15001634|14988267|14671192|12881724|11771660|11739459|11159191|10615944|10480624|10453738|9662402|8040311|7830796|7830788|6320193|5419273|3262656|3104326|2211644|1647027|1351877	RESPONSE_TO_NUTRIENT;RESPONSE_TO_EXTRACELLULAR_STIMULUS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;RESPONSE_TO_NUTRIENT_LEVELS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_EXTERNAL_STIMULUS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;PYROPHOSPHATASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RIBOFLAVIN_METABOLISM;KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	
H	6	132168996	.	G	GGTGT	133.89	PASS	ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	splicing	NM_006208	NM_006208:exon2:c.313+8->GTGT	.	.	ENST00000360971.2	.	6q23.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	.	.	.	.	.	.	.	0.097389,4.525	.	AC=14,7,3,1;AN=40;DP4=40,50,59,145;DP=622;HOB=0.5;ICB=1;IDV=2;IMF=0.1;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,5,6,7,8,9,10,11,13,15,16,17,18,19,20,21,23,24;SGB=-0.453602;VDB=0.778312	GT:DP:DV:PL	.	0/1:5:2:71,0,95,.,.,.,.,.,.,.,.,.,.,.,.	1/3:12:10:171,37,90,.,.,.,77,0,.,135,.,.,.,.,.	.	0/1:12:9:208,0,78,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:13:180,0,121,.,.,.,.,.,.,.,.,.,.,.,.	1/3:11:8:212,55,86,.,.,.,123,0,.,155,.,.,.,.,.	0/2:15:12:155,.,.,0,.,68,.,.,.,.,.,.,.,.,.	0/2:18:11:151,.,.,0,.,202,.,.,.,.,.,.,.,.,.	0/2:13:8:105,.,.,0,.,154,.,.,.,.,.,.,.,.,.	0/2:20:11:132,.,.,0,.,185,.,.,.,.,.,.,.,.,.	0/1:15:6:93,0,190,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:148,24,9,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:19:12:255,0,136,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:11:250,.,.,.,.,.,.,.,.,.,3,.,.,.,60	0/2:11:5:99,.,.,0,.,133,.,.,.,.,.,.,.,.,.	1/1:8:8:255,24,0,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:15:165,.,.,0,.,105,.,.,.,.,.,.,.,.,.	0/1:21:10:172,0,206,.,.,.,.,.,.,.,.,.,.,.,.	0/1:16:14:206,11,50,.,.,.,.,.,.,.,.,.,.,.,.	.	2/1:14:12:171,89,127,48,0,81,.,.,.,.,.,.,.,.,.	0/3:24:20:255,.,.,.,.,.,12,.,.,68,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	2	18	{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3)	.	.	.	24075184|22209248|20137773|20137772|20016754|19380683|19206175|16968801|16609882|16607460|16025115|15940697|15677494|15605415|15126519|15001634|14988267|14671192|12881724|11771660|11739459|11159191|10615944|10480624|10453738|9662402|8040311|7830796|7830788|6320193|5419273|3262656|3104326|2211644|1647027|1351877	RESPONSE_TO_NUTRIENT;RESPONSE_TO_EXTRACELLULAR_STIMULUS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;RESPONSE_TO_NUTRIENT_LEVELS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_EXTERNAL_STIMULUS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;PYROPHOSPHATASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RIBOFLAVIN_METABOLISM;KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	
L	6	132168996	rs373838049	GGTGT	G	133.89	PASS	ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	splicing	NM_006208	.	.	.	ENST00000360971.2	.	6q23.2	.	.	.	.	Score=402;Name="4109497:(TG)n(Simple_repeat)"	rs373838049	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	0.059258,4.323	.	AC=14,7,3,1;AN=40;DP4=40,50,59,145;DP=622;HOB=0.5;ICB=1;IDV=2;IMF=0.1;MQ0F=0;MQ=60;MQSB=1;SF=1,2,4,5,6,7,8,9,10,11,13,15,16,17,18,19,20,21,23,24;SGB=-0.453602;VDB=0.778312	GT:DP:DV:PL	.	0/1:5:2:71,0,95,.,.,.,.,.,.,.,.,.,.,.,.	1/3:12:10:171,37,90,.,.,.,77,0,.,135,.,.,.,.,.	.	0/1:12:9:208,0,78,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:13:180,0,121,.,.,.,.,.,.,.,.,.,.,.,.	1/3:11:8:212,55,86,.,.,.,123,0,.,155,.,.,.,.,.	0/2:15:12:155,.,.,0,.,68,.,.,.,.,.,.,.,.,.	0/2:18:11:151,.,.,0,.,202,.,.,.,.,.,.,.,.,.	0/2:13:8:105,.,.,0,.,154,.,.,.,.,.,.,.,.,.	0/2:20:11:132,.,.,0,.,185,.,.,.,.,.,.,.,.,.	0/1:15:6:93,0,190,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:7:7:148,24,9,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:19:12:255,0,136,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:11:250,.,.,.,.,.,.,.,.,.,3,.,.,.,60	0/2:11:5:99,.,.,0,.,133,.,.,.,.,.,.,.,.,.	1/1:8:8:255,24,0,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:15:165,.,.,0,.,105,.,.,.,.,.,.,.,.,.	0/1:21:10:172,0,206,.,.,.,.,.,.,.,.,.,.,.,.	0/1:16:14:206,11,50,.,.,.,.,.,.,.,.,.,.,.,.	.	2/1:14:12:171,89,127,48,0,81,.,.,.,.,.,.,.,.,.	0/3:24:20:255,.,.,.,.,.,12,.,.,68,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	2	18	{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized, of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3)	.	.	.	24075184|22209248|20137773|20137772|20016754|19380683|19206175|16968801|16609882|16607460|16025115|15940697|15677494|15605415|15126519|15001634|14988267|14671192|12881724|11771660|11739459|11159191|10615944|10480624|10453738|9662402|8040311|7830796|7830788|6320193|5419273|3262656|3104326|2211644|1647027|1351877	RESPONSE_TO_NUTRIENT;RESPONSE_TO_EXTRACELLULAR_STIMULUS;GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY;RESPONSE_TO_NUTRIENT_LEVELS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_EXTERNAL_STIMULUS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;PYROPHOSPHATASE_ACTIVITY	KEGG_PURINE_METABOLISM;KEGG_STARCH_AND_SUCROSE_METABOLISM;KEGG_RIBOFLAVIN_METABOLISM;KEGG_NICOTINATE_AND_NICOTINAMIDE_METABOLISM;KEGG_PANTOTHENATE_AND_COA_BIOSYNTHESIS	.	.	REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS	
L	6	146480740	.	TTCTCTCTC	T	50.69	PASS	GRM1	glutamate receptor, metabotropic 1	splicing	NM_001278064,NM_001278065,NM_001278066,NM_001278067	.	.	.	ENST00000392299.2,ENST00000492807.2,ENST00000507907.1,ENST00000282753.1,ENST00000355289.4,ENST00000361719.2	.	6q24.3	.	.	.	.	Score=342;Name="4134182:(TC)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924293,8.764	.	AC=7,17,5,1,1;AN=34;DP4=0,3,3,66;DP=238;HOB=0.5;ICB=1;IDV=5;IMF=0.357143;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,6,7,8,9,10,14,15,16,18,19,20,23;SGB=-0.590765;VDB=0.138089	GT:DP:DV:PL	0/2:6:5:69,.,.,12,.,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:4:4:120,.,.,57,.,48,69,.,0,66,.,.,.,.,.,.,.,.,.,.,.	1/2:2:2:91,37,34,57,0,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:3:3:84,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:4:4:99,49,46,57,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:8:8:199,.,.,149,.,140,65,.,0,53,.,.,.,.,.,.,.,.,.,.,.	2/3:6:6:151,.,.,57,.,42,101,.,0,98,.,.,.,.,.,.,.,.,.,.,.	0/4:5:4:76,.,.,.,.,.,.,.,.,.,26,.,.,.,46,.,.,.,.,.,.	2/2:3:3:89,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:4:4:105,54,51,.,.,.,54,0,.,51,.,.,.,.,.,.,.,.,.,.,.	.	.	.	5/1:7:7:95,46,43,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,46	2/2:3:3:88,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:2:2:54,.,.,6,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:6:5:91,.,.,.,.,.,28,.,.,59,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:6:6:121,72,69,56,0,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	2/2:2:2:65,.,.,6,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	6	11	Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)	.	.	.	24603153|22901947|17934773|17609672|16229975|14614461|14528310|12704387|11418862|11069170|11020218|10846166|10828618|10620645|9582347|9376535|9076744|7969468|7954803|7954802|7798903	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	GLUTAMATE_RECEPTOR_ACTIVITY;METABOTROPIC_GLUTAMATEGABA_B_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_LONG_TERM_DEPRESSION	.	BIOCARTA_CK1_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	PM2
H	6	146480740	.	T	TTC	50.69	PASS	GRM1	glutamate receptor, metabotropic 1	splicing	NM_001278064,NM_001278065,NM_001278066,NM_001278067	NM_001278064:exon2:c.950+7->TC;NM_001278065:exon3:c.950+7->TC;NM_001278066:exon2:c.950+7->TC;NM_001278067:exon2:c.950+7->TC	.	.	ENST00000392299.2,ENST00000492807.2,ENST00000507907.1,ENST00000282753.1,ENST00000355289.4,ENST00000361719.2	.	6q24.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0695652	.	.	.	.	.	.	.	.	.	.	0.112134,4.603	.	AC=7,17,5,1,1;AN=34;DP4=0,3,3,66;DP=238;HOB=0.5;ICB=1;IDV=5;IMF=0.357143;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,5,6,7,8,9,10,14,15,16,18,19,20,23;SGB=-0.590765;VDB=0.138089	GT:DP:DV:PL	0/2:6:5:69,.,.,12,.,50,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:4:4:120,.,.,57,.,48,69,.,0,66,.,.,.,.,.,.,.,.,.,.,.	1/2:2:2:91,37,34,57,0,54,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:3:3:84,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:4:4:99,49,46,57,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:8:8:199,.,.,149,.,140,65,.,0,53,.,.,.,.,.,.,.,.,.,.,.	2/3:6:6:151,.,.,57,.,42,101,.,0,98,.,.,.,.,.,.,.,.,.,.,.	0/4:5:4:76,.,.,.,.,.,.,.,.,.,26,.,.,.,46,.,.,.,.,.,.	2/2:3:3:89,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:4:4:105,54,51,.,.,.,54,0,.,51,.,.,.,.,.,.,.,.,.,.,.	.	.	.	5/1:7:7:95,46,43,.,.,.,.,.,.,.,.,.,.,.,.,55,0,.,.,.,46	2/2:3:3:88,.,.,9,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:2:2:54,.,.,6,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:6:5:91,.,.,.,.,.,28,.,.,59,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:6:6:121,72,69,56,0,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	2/2:2:2:65,.,.,6,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	6	11	Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)	.	.	.	24603153|22901947|17934773|17609672|16229975|14614461|14528310|12704387|11418862|11069170|11020218|10846166|10828618|10620645|9582347|9376535|9076744|7969468|7954803|7954802|7798903	SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;G_PROTEIN_COUPLED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	GLUTAMATE_RECEPTOR_ACTIVITY;METABOTROPIC_GLUTAMATEGABA_B_LIKE_RECEPTOR_ACTIVITY;G_PROTEIN_COUPLED_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION;KEGG_GAP_JUNCTION;KEGG_LONG_TERM_POTENTIATION;KEGG_LONG_TERM_DEPRESSION	.	BIOCARTA_CK1_PATHWAY	REACTOME_SIGNALING_BY_GPCR;REACTOME_CLASS_C_3_METABOTROPIC_GLUTAMATE_PHEROMONE_RECEPTORS;REACTOME_GPCR_LIGAND_BINDING	
H	6	157099402	rs587779743	C	CCAG	128.14	PASS	ARID1B	AT rich interactive domain 1B (SWI1-like)	exonic	NM_017519,NM_020732	.	nonframeshift insertion	ARID1B:NM_017519:exon1:c.339_340insCAG:p.F113delinsFQ,ARID1B:NM_020732:exon1:c.339_340insCAG:p.F113delinsFQ	ENST00000367148.1,ENST00000350026.5,ENST00000275248.4,ENST00000346085.5	.	6q25.3	.	.	.	.	.	rs587779743	CLINSIG=Likely benign\x2cLikely benign;CLNDBN=not_specified\x2cnot_specified;CLNACC=RCV000192333.1,RCV000114270.2;CLNDSDB=MedGen\x2cMedGen;CLNDSDBID=CN169374\x2cCN169374	.	.	.	.	0.0167	0.0031	0.0221	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.608208,11.33	.	AC=2,1;AN=6;DP4=22,17,10,5;DP=73;HOB=0.5;ICB=1;IDV=3;IMF=0.0810811;MQ0F=0;MQ=60;MQSB=1;SF=11,20,22;SGB=-0.511536;VDB=0.0068066	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/2:28:3:72,.,.,0,.,255	.	.	.	.	.	.	.	.	0/1:16:8:255,0,242,.,.,.	.	0/1:10:4:160,0,208,.,.,.	.	.	CCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA	0	3	Mental retardation, autosomal dominant 12, 614562 (3)	.	.	.	22426309|22426308|22405089|12665591|11988099|10574462	.	NUCLEOPLASM;ORGANELLE_PART;CHROMATIN_REMODELING_COMPLEX;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DNA_BINDING	.	.	.	.	PM4
L	6	157099402	rs746846909	CCAG	C	128.14	PASS	ARID1B	AT rich interactive domain 1B (SWI1-like)	exonic	NM_017519,NM_020732	.	nonframeshift deletion	ARID1B:NM_017519:exon1:c.340_342del:p.114_114del,ARID1B:NM_020732:exon1:c.340_342del:p.114_114del	ENST00000367148.1,ENST00000350026.5,ENST00000275248.4,ENST00000346085.5	.	6q25.3	.	.	.	.	Score=441;Name="4153203:(CAG)n(Simple_repeat)"	rs746846909	.	.	.	.	.	0.0189	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	1.597047,11.30	.	AC=2,1;AN=6;DP4=22,17,10,5;DP=73;HOB=0.5;ICB=1;IDV=3;IMF=0.0810811;MQ0F=0;MQ=60;MQSB=1;SF=11,20,22;SGB=-0.511536;VDB=0.0068066	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	0/2:28:3:72,.,.,0,.,255	.	.	.	.	.	.	.	.	0/1:16:8:255,0,242,.,.,.	.	0/1:10:4:160,0,208,.,.,.	.	.	CCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA	CCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA,CCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCA	0	3	Mental retardation, autosomal dominant 12, 614562 (3)	.	.	.	22426309|22426308|22405089|12665591|11988099|10574462	.	NUCLEOPLASM;ORGANELLE_PART;CHROMATIN_REMODELING_COMPLEX;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DNA_BINDING	.	.	.	.	PM2
L	6	157100023	rs754500538	CGGA	C	54.64	PASS	ARID1B	AT rich interactive domain 1B (SWI1-like)	exonic	NM_017519,NM_020732	.	nonframeshift deletion	ARID1B:NM_017519:exon1:c.961_963del:p.321_321del,ARID1B:NM_020732:exon1:c.961_963del:p.321_321del	ENST00000367148.1,ENST00000350026.5,ENST00000275248.4,ENST00000346085.5	.	6q25.3	.	.	.	.	Score=390;Name="4153209:(GGA)n(Simple_repeat)"	rs754500538	.	.	.	.	.	0.0394	0.0141	0.0455	.	.	.	.	.	.	.	.	.	.	.	.	0.173802,4.935	.	AC=4;AN=8;DP4=97,59,15,7;DP=306;HOB=0.5;ICB=1;IDV=8;IMF=0.0792079;MQ0F=0;MQ=60;MQSB=1;SF=2,5,13,20;SGB=-0.636426;VDB=3.34453e-06	GT:DP:DV:PL	.	.	0/1:63:7:87,0,255	.	.	0/1:45:5:68,0,255	.	.	.	.	.	.	.	0/1:41:7:147,0,255	.	.	.	.	.	.	0/1:29:3:64,0,255	.	.	.	.	CGGAGGAGGAGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAGGAGGAGGAG	0	4	Mental retardation, autosomal dominant 12, 614562 (3)	.	.	.	22426309|22426308|22405089|12665591|11988099|10574462	.	NUCLEOPLASM;ORGANELLE_PART;CHROMATIN_REMODELING_COMPLEX;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	DNA_BINDING	.	.	.	.	
L	6	170871037	.	GCAACAGCAA	G	208.37	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.154_162del:p.52_54del,TBP:NM_003194:exon3:c.214_222del:p.72_74del	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=32,2;AN=48;DP4=65,28,349,203;DP=849;HOB=0.5;ICB=1;IDV=15;IMF=0.365854;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693054;VDB=0.627416	GT:DP:DV:PL	0/1:35:28:255,0,65,.,.,.	1/1:18:18:255,56,5,.,.,.	0/1:29:24:255,0,37,.,.,.	0/1:21:18:.,.,44,.,.,.	0/1:27:23:.,.,21,.,.,.	1/1:44:43:255,70,0,.,.,.	1/1:34:34:.,.,0,.,.,.	0/1:32:18:.,.,203,.,.,.	0/1:24:20:255,0,22,.,.,.	0/1:26:10:101,0,255,.,.,.	1/1:25:25:.,.,0,.,.,.	0/1:31:25:255,0,63,.,.,.	.	1/1:24:24:.,.,0,.,.,.	0/1:19:17:.,.,20,.,.,.	1/1:14:14:.,.,0,.,.,.	0/1:25:19:.,.,74,.,.,.	1/1:28:28:.,.,0,.,.,.	0/1:20:15:.,.,54,.,.,.	1/2:21:20:255,61,63,245,0,255	0/1:15:13:.,.,11,.,.,.	1/1:43:43:.,.,0,.,.,.	0/1:18:14:.,.,79,.,.,.	1/2:31:31:255,247,172,255,0,255	0/1:41:28:255,0,125,.,.,.	GCAACAGCAACA	GCAGCAACA,GCA	8	16	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	6	170871046	rs752404282	ACAGCAGCAG	A	96.73	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_171del:p.55_57del,TBP:NM_003194:exon3:c.223_231del:p.75_77del	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	rs752404282	.	.	.	.	.	.	0.0001	0	.	0.0652174	.	.	.	.	.	.	.	.	.	.	0.144695,4.778	.	AC=26,1,1,1,3;AN=32;DP4=1,0,69,49;DP=537;IDV=22;IMF=0.536585;MQ0F=0;MQ=60;MQSB=1;SF=2,4,5,7,8,9,10,11,12,14,17,18,19,20,23,24;SGB=-0.683931;VDB=0.00697958	GT:DP:DV:PL	.	.	1/2:13:13:154,56,35,130,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:2:2:50,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:126,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:176,49,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:135,26,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:237,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:10:9:167,56,52,.,.,.,.,.,.,.,.,.,.,.,.,107,0,.,.,.,114	1/1:4:4:108,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:9:9:255,.,.,.,.,.,67,.,.,46,255,.,.,0,255,.,.,.,.,.,.	.	1/1:2:2:57,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:4:4:86,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:116,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:5:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,15,.,.,.,.,0	1/1:3:3:61,17,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:56,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:24:24:207,73,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	13	3	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	6	170871046	rs758734033	ACAG	A	96.73	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_165del:p.55_55del,TBP:NM_003194:exon3:c.223_225del:p.75_75del	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	rs758734033	.	.	.	.	.	.	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	-1.191699,0.077	.	AC=26,1,1,1,3;AN=32;DP4=1,0,69,49;DP=537;IDV=22;IMF=0.536585;MQ0F=0;MQ=60;MQSB=1;SF=2,4,5,7,8,9,10,11,12,14,17,18,19,20,23,24;SGB=-0.683931;VDB=0.00697958	GT:DP:DV:PL	.	.	1/2:13:13:154,56,35,130,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:2:2:50,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:126,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:176,49,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:135,26,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:237,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:10:9:167,56,52,.,.,.,.,.,.,.,.,.,.,.,.,107,0,.,.,.,114	1/1:4:4:108,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:9:9:255,.,.,.,.,.,67,.,.,46,255,.,.,0,255,.,.,.,.,.,.	.	1/1:2:2:57,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:4:4:86,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:116,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:5:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,15,.,.,.,.,0	1/1:3:3:61,17,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:56,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:24:24:207,73,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	13	3	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	6	170871046	.	A	ACAGCAGCAG	96.73	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAGCAG:p.Q54delinsQQQQ,TBP:NM_003194:exon3:c.222_223insCAGCAGCAG:p.Q74delinsQQQQ	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=26,1,1,1,3;AN=32;DP4=1,0,69,49;DP=537;IDV=22;IMF=0.536585;MQ0F=0;MQ=60;MQSB=1;SF=2,4,5,7,8,9,10,11,12,14,17,18,19,20,23,24;SGB=-0.683931;VDB=0.00697958	GT:DP:DV:PL	.	.	1/2:13:13:154,56,35,130,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:2:2:50,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:126,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:176,49,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:135,26,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:237,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:10:9:167,56,52,.,.,.,.,.,.,.,.,.,.,.,.,107,0,.,.,.,114	1/1:4:4:108,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:9:9:255,.,.,.,.,.,67,.,.,46,255,.,.,0,255,.,.,.,.,.,.	.	1/1:2:2:57,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:4:4:86,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:116,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:5:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,15,.,.,.,.,0	1/1:3:3:61,17,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:56,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:24:24:207,73,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	13	3	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	PM2
L	6	170871046	rs775224229	A	ACAGCAG	96.73	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAG:p.Q54delinsQQQ,TBP:NM_003194:exon3:c.222_223insCAGCAG:p.Q74delinsQQQ	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	rs775224229	.	.	.	.	.	.	0.0007	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=26,1,1,1,3;AN=32;DP4=1,0,69,49;DP=537;IDV=22;IMF=0.536585;MQ0F=0;MQ=60;MQSB=1;SF=2,4,5,7,8,9,10,11,12,14,17,18,19,20,23,24;SGB=-0.683931;VDB=0.00697958	GT:DP:DV:PL	.	.	1/2:13:13:154,56,35,130,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:2:2:50,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:126,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:176,49,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:135,26,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:237,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:10:9:167,56,52,.,.,.,.,.,.,.,.,.,.,.,.,107,0,.,.,.,114	1/1:4:4:108,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:9:9:255,.,.,.,.,.,67,.,.,46,255,.,.,0,255,.,.,.,.,.,.	.	1/1:2:2:57,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:4:4:86,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:116,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:5:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,15,.,.,.,.,0	1/1:3:3:61,17,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:56,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:24:24:207,73,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	13	3	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	6	170871046	.	ACAGCAGCAGCAG	A	96.73	PASS	TBP	TATA box binding protein	exonic	NM_001172085,NM_003194	.	nonframeshift deletion	TBP:NM_001172085:exon2:c.163_174del:p.55_58del,TBP:NM_003194:exon3:c.223_234del:p.75_78del	ENST00000540980.1,ENST00000392092.2,ENST00000230354.6	.	6q27	.	.	.	.	Score=938;Name="4173676:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=26,1,1,1,3;AN=32;DP4=1,0,69,49;DP=537;IDV=22;IMF=0.536585;MQ0F=0;MQ=60;MQSB=1;SF=2,4,5,7,8,9,10,11,12,14,17,18,19,20,23,24;SGB=-0.683931;VDB=0.00697958	GT:DP:DV:PL	.	.	1/2:13:13:154,56,35,130,0,112,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:2:2:50,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:126,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:14:14:176,49,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:135,26,5,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:237,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:10:9:167,56,52,.,.,.,.,.,.,.,.,.,.,.,.,107,0,.,.,.,114	1/1:4:4:108,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:9:9:255,.,.,.,.,.,67,.,.,46,255,.,.,0,255,.,.,.,.,.,.	.	1/1:2:2:57,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:4:4:86,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:4:4:116,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:5:5:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,15,.,.,.,.,0	1/1:3:3:61,17,11,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:56,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:24:24:207,73,16,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	13	3	Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease, susceptibility to}, 168600 (3)	.	.	.	19643914|18043721|17033685|15521976|14985389|14756671|14755733|12805114|12660736|12411709|12150996|11448935|11313753|11252172|11125147|10484774|9399691|8886170|8503450|7959796|7959752|7873754|7698028|2363050|2194289|1870994|1436073	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;MACROMOLECULAR_COMPLEX_ASSEMBLY;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;TRANSCRIPTION_INITIATION;PROTEIN_DNA_COMPLEX_ASSEMBLY;RNA_BIOSYNTHETIC_PROCESS;CELLULAR_COMPONENT_ASSEMBLY;TRANSCRIPTION;TRANSCRIPTION_INITIATION_FROM_RNA_POLYMERASE_II_PROMOTER;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;DNA_DIRECTED_RNA_POLYMERASEII_HOLOENZYME;NUCLEOPLASM_PART;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANSCRIPTION_FACTOR_TFIID_COMPLEX;TRANSCRIPTION_FACTOR_COMPLEX;PROTEIN_COMPLEX	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY;GENERAL_RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_BASAL_TRANSCRIPTION_FACTORS;KEGG_HUNTINGTONS_DISEASE	PID_REG_GR_PATHWAY;PID_MYC_REPRESSPATHWAY;PID_RB_1PATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_2_PROMOTER;REACTOME_RNA_POL_II_TRANSCRIPTION;REACTOME_RNA_POL_III_TRANSCRIPTION;REACTOME_RNA_POL_II_TRANSCRIPTION_PRE_INITIATION_AND_PROMOTER_OPENING;REACTOME_TRANSCRIPTION;REACTOME_RNA_POL_I_RNA_POL_III_AND_MITOCHONDRIAL_TRANSCRIPTION;REACTOME_RNA_POL_II_PRE_TRANSCRIPTION_EVENTS;REACTOME_RNA_POL_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER;REACTOME_HIV_INFECTION;REACTOME_HIV_LIFE_CYCLE;REACTOME_LATE_PHASE_OF_HIV_LIFE_CYCLE	
L	7	15725794	.	GTGA	G	110.26	PASS	MEOX2	mesenchyme homeobox 2	exonic	NM_005924	.	nonframeshift deletion	MEOX2:NM_005924:exon1:c.231_233del:p.77_78del	ENST00000262041.5	.	7p21.2	.	.	Score=955;Name=V$GATA1_01	.	Score=330;Name="4253749:(TGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.062116,12.85	.	AC=15;AN=24;DP4=93,32,280,84;DP=757;HOB=0.5;ICB=1;IDV=2;IMF=0.0224719;MQ0F=0;MQ=60;MQSB=1;SF=5,6,7,8,10,13,15,16,20,21,23,24;SGB=-0.693144;VDB=0.188936	GT:DP:DV:PL	.	.	.	.	.	0/1:52:39:148,0,121	0/1:34:27:71,0,80	1/1:30:30:255,90,0	0/1:23:17:114,0,80	.	0/1:46:34:125,0,125	.	.	1/1:33:33:255,99,0	.	0/1:36:10:77,0,255	0/1:30:20:134,0,141	.	.	.	0/1:36:28:109,0,72	1/1:65:65:255,196,0	.	0/1:52:39:99,0,119	0/1:52:22:65,0,255	GTGATG	GTG	3	9	Mesenchyme homeo box 2	.	.	.	22373864|20470754|17957028|16335786|16116430|10403250|8098844|7713505|7607679|1363541	MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SYSTEM_PROCESS	.	.	.	.	.	.	PM2
L	7	15725797	rs756065472	ATGGTGG	A	216.92	PASS	MEOX2	mesenchyme homeobox 2	exonic	NM_005924	.	nonframeshift deletion	MEOX2:NM_005924:exon1:c.225_230del:p.75_77del	ENST00000262041.5	.	7p21.2	.	.	Score=955;Name=V$GATA1_01	.	Score=330;Name="4253749:(TGG)n(Simple_repeat)"	rs756065472	.	.	.	.	.	.	0.0247	0.0244	.	.	.	.	.	.	.	.	.	.	.	.	2.180701,13.25	.	AC=34,4;AN=50;DP4=169,27,529,221;DP=1339;HOB=0.5;ICB=1;IDV=20;IMF=0.540541;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.691153;VDB=0.00421756	GT:DP:DV:PL	0/1:27:18:255,0,234,.,.,.	0/1:41:19:255,0,255,.,.,.	0/1:49:25:255,0,255,.,.,.	0/1:43:21:255,0,255,.,.,.	0/1:21:9:255,0,255,.,.,.	1/2:65:65:255,255,205,255,0,255	1/1:35:35:255,105,0,.,.,.	1/1:27:27:255,81,0,.,.,.	1/2:32:32:255,255,206,255,0,255	0/1:24:14:255,0,255,.,.,.	1/1:43:43:255,126,0,.,.,.	0/1:33:20:255,0,255,.,.,.	0/1:28:19:255,0,235,.,.,.	1/2:35:35:255,148,52,255,0,255	1/1:43:43:255,123,0,.,.,.	0/1:30:11:255,0,255,.,.,.	1/2:28:28:255,125,50,255,0,255	1/1:33:33:255,99,0,.,.,.	1/1:37:37:255,134,32,.,.,.	0/1:39:15:255,0,255,.,.,.	1/1:34:34:255,102,6,.,.,.	1/1:67:67:255,205,22,.,.,.	0/1:24:11:255,0,255,.,.,.	1/1:60:60:255,172,0,.,.,.	0/1:48:29:255,0,255,.,.,.	ATGGTGGTGGTGGTGGTGGTGGTGGTGGTG	ATGGTGGTGGTGGTGGTGGTGGTGGTG,ATGGTGGTGGTGGTGGTGGTGGTG	9	16	Mesenchyme homeo box 2	.	.	.	22373864|20470754|17957028|16335786|16116430|10403250|8098844|7713505|7607679|1363541	MULTICELLULAR_ORGANISMAL_DEVELOPMENT;SYSTEM_PROCESS	.	.	.	.	.	.	
L	7	19156668	rs544465774	TGCCGCCGCCGCCGCCCGC	T	222	PASS	TWIST1	twist family bHLH transcription factor 1	exonic	NM_000474	.	nonframeshift deletion	TWIST1:NM_000474:exon1:c.259_276del:p.87_92del	ENST00000242261.5	CpG: 152	7p21.1	.	.	Score=775;Name=V$HEN1_02	.	Score=321;Name="4259009:(CCG)n(Simple_repeat)"	rs544465774	.	.	0.00332226	0.002	0.00139776	.	0.0014	0.0065	0.00332226	0.0036057709375	.	.	.	.	.	.	.	.	.	.	0.253296,5.369	.	AC=1;AN=2;DP4=10,27,10,24;DP=89;HOB=0.5;ICB=1;IDV=33;IMF=0.366667;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693132;VDB=0.000100197	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:71:34:255,0,255	.	.	.	.	TGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC	TGCCGCCGCCGCCGCC	0	1	Saethre-Chotzen syndrome, 101400 (3); Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3); Craniosynostosis, type 1, 123100 (3); Robinow-Sorauf syndrome, 180750 (3)	.	Saethre-Chotzen syndrome(CI000280)	GCGGC^90GGCGGcggcggcggcCGGCAGCAGC|c.276_277ins10(http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10649491&dopt=Abstract)	10649491|21983900|19345188|18663125|17343269|16502419|16251895|15829502|15735646|15545268|15210113|15030764|14513358|12791045|12553906|11977182|11854168|11754069|11389462|11350121|11248247|10749989|10649491|10465122|10094188|10025406|9934984|9580658|9499396|9300656|9259286|9215678|9073070|8995765|8988167|8988166|8968762|8431638|8330538|7868123	RNA_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;NEGATIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;SKELETAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;NEGATIVE_REGULATION_OF_TRANSCRIPTION_DNA_DEPENDENT;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;NEGATIVE_REGULATION_OF_TRANSCRIPTION;NEGATIVE_REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;NEGATIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION	.	ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	PID_HIF2PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_ARF_PATHWAY	.	PS3
H	7	36478805	rs370191278	CT	C	104	PASS	ANLN	anillin actin binding protein	splicing	NM_001284301,NM_001284302,NM_018685	NM_001284301:exon20:c.2773-7T>-;NM_001284302:exon20:c.2770-7T>-;NM_018685:exon21:c.2884-7T>-	.	.	ENST00000265748.2,ENST00000396068.2	.	7p14.2	.	.	.	.	.	rs370191278	.	.	0.013289	0.0139	0.00299521	0.0103	0.0009	0.0114	0.00995403987749	0.0108172823317	.	.	.	.	.	.	.	.	.	.	0.685401,7.663	.	AC=2;AN=4;DP4=14,9,10,7;DP=54;HOB=0.5;ICB=1;IDV=18;IMF=0.473684;MQ0F=0;MQ=60;MQSB=1;SF=1,20;SGB=-0.676189;VDB=0.742576	GT:DP:DV:PL	.	0/1:26:11:159,0,186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:14:6:115,0,159	.	.	.	.	CTTT	CTT	0	2	Focal segmental glomerulosclerosis 8, 616032 (3)	.	.	.	24676636|10931866	CYTOKINESIS;MACROMOLECULAR_COMPLEX_ASSEMBLY;M_PHASE;ORGANELLE_ORGANIZATION_AND_BIOGENESIS;REGULATION_OF_MITOSIS;CELL_CYCLE_PROCESS;CELLULAR_PROTEIN_COMPLEX_ASSEMBLY;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;CELL_DIVISION;PROTEIN_COMPLEX_ASSEMBLY;PROTEIN_METABOLIC_PROCESS;MITOSIS;CELL_CYCLE_GO_0007049;CYTOSKELETON_ORGANIZATION_AND_BIOGENESIS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;REGULATION_OF_CELL_CYCLE;M_PHASE_OF_MITOTIC_CELL_CYCLE	ORGANELLE_PART;CYTOPLASMIC_PART;CYTOPLASM;NON_MEMBRANE_BOUND_ORGANELLE;CYTOSKELETAL_PART;CYTOSKELETON;CELL_CORTEX_PART;CELL_CORTEX;ACTIN_CYTOSKELETON;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART	ACTIN_BINDING;CYTOSKELETAL_PROTEIN_BINDING	.	.	.	.	
L	7	44663907	rs540461753	TTTG	T	26.58	PASS	OGDH	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	splicing	NM_001003941,NM_001165036,NM_002541	.	.	.	ENST00000222673.5,ENST00000449767.1,ENST00000439616.2,ENST00000447398.1,ENST00000444676.1,ENST00000443864.2	.	7p13	.	.	.	.	Score=195;Name="4303718:(T)n(Simple_repeat)"	rs540461753	.	.	.	.	.	.	8.735e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=1,0,8,0;DP=18;IDV=2;IMF=0.111111;MQ0F=0;MQ=60;SF=20;SGB=-0.651104;VDB=0.538749	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:9:8:54,11,0	.	.	.	.	TTTGT	TT	1	0	Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)	.	.	.	8020988|7622061|1542694	GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY	ORGANELLE_PART;MITOCHONDRIAL_PART;CYTOPLASMIC_PART;MITOCHONDRIAL_MEMBRANE;MEMBRANE;CYTOPLASM;ORGANELLE_MEMBRANE;ENVELOPE;ORGANELLE_ENVELOPE;INTRACELLULAR_ORGANELLE_PART;MITOCHONDRION;MITOCHONDRIAL_ENVELOPE	OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_ALDEHYDE_OR_OXO_GROUP_OF_DONORS	KEGG_CITRATE_CYCLE_TCA_CYCLE;KEGG_LYSINE_DEGRADATION;KEGG_TRYPTOPHAN_METABOLISM	.	BIOCARTA_KREB_PATHWAY	REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE;REACTOME_TCA_CYCLE_AND_RESPIRATORY_ELECTRON_TRANSPORT;REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES;REACTOME_CITRIC_ACID_CYCLE_TCA_CYCLE	
L	7	64004817	rs3217570	A	AAC	193.54	PASS	ZNF680	zinc finger protein 680	splicing	NM_001130022,NM_178558	NM_001130022:exon2:c.31-7->GT;NM_178558:exon2:c.31-7->GT	.	.	ENST00000309683.6,ENST00000447137.2,ENST00000476563.1	.	7q11.21	.	.	.	.	.	rs3217570	.	.	0.0116279	0.0079	0.0153754	.	0.0193	0.0153	.	0.0168269228365	.	.	.	.	.	.	.	.	.	.	-0.557343,1.481	.	AC=13,17,3,3;AN=48;DP4=84,157,213,616;DP=1631;HOB=0.5;ICB=1;IDV=25;IMF=0.337838;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=1.73748e-05	GT:DP:DV:PL	0/2:48:24:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/1:49:31:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	2/1:34:34:255,255,255,226,0,162,.,.,.,.,.,.,.,.,.	0/2:47:34:255,.,.,0,.,218,.,.,.,.,.,.,.,.,.	2/3:51:46:255,.,.,124,.,192,255,.,0,255,.,.,.,.,.	0/1:50:14:92,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/2:55:40:255,.,.,0,.,214,.,.,.,.,.,.,.,.,.	.	2/1:46:46:255,255,255,255,0,232,.,.,.,.,.,.,.,.,.	1/3:52:46:255,152,246,.,.,.,177,0,.,255,.,.,.,.,.	2/4:44:43:255,.,.,242,.,204,.,.,.,.,255,.,0,.,255	1/2:45:42:255,78,42,242,0,255,.,.,.,.,.,.,.,.,.	2/3:21:18:255,.,.,97,.,156,255,.,0,255,.,.,.,.,.	2/1:38:38:255,255,255,255,0,207,.,.,.,.,.,.,.,.,.	2/4:33:23:255,.,.,34,.,210,.,.,.,.,105,.,0,.,255	0/1:35:28:255,26,162,.,.,.,.,.,.,.,.,.,.,.,.	1/2:65:64:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/2:40:30:255,.,.,0,.,165,.,.,.,.,.,.,.,.,.	0/1:52:32:255,0,188,.,.,.,.,.,.,.,.,.,.,.,.	0/1:49:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/2:63:50:255,.,.,0,.,169,.,.,.,.,.,.,.,.,.	2/4:61:61:255,.,.,255,.,218,.,.,.,.,255,.,0,.,255	1/2:17:13:197,43,138,57,0,154,.,.,.,.,.,.,.,.,.	0/2:35:23:255,.,.,0,.,219,.,.,.,.,.,.,.,.,.	0/1:40:20:162,0,255,.,.,.,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACAC,AACACACACACACACACACACACACACAC,AACACACACACACACACACACACACACACACACAC,AACACACACACACACACACACACACAC	0	24	.	.	.	.		.	.	.	.	.	.	.	
L	7	64004817	rs777952882	AACACAC	A	193.54	PASS	ZNF680	zinc finger protein 680	splicing	NM_001130022,NM_178558	.	.	.	ENST00000309683.6,ENST00000447137.2,ENST00000476563.1	.	7q11.21	.	.	.	.	Score=288;Name="4330432:(CA)n(Simple_repeat)"	rs777952882	.	.	.	.	.	.	0.0105	0.0314	.	.	.	.	.	.	.	.	.	.	.	.	-0.629148,1.213	.	AC=13,17,3,3;AN=48;DP4=84,157,213,616;DP=1631;HOB=0.5;ICB=1;IDV=25;IMF=0.337838;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692831;VDB=1.73748e-05	GT:DP:DV:PL	0/2:48:24:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	0/1:49:31:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	2/1:34:34:255,255,255,226,0,162,.,.,.,.,.,.,.,.,.	0/2:47:34:255,.,.,0,.,218,.,.,.,.,.,.,.,.,.	2/3:51:46:255,.,.,124,.,192,255,.,0,255,.,.,.,.,.	0/1:50:14:92,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/2:55:40:255,.,.,0,.,214,.,.,.,.,.,.,.,.,.	.	2/1:46:46:255,255,255,255,0,232,.,.,.,.,.,.,.,.,.	1/3:52:46:255,152,246,.,.,.,177,0,.,255,.,.,.,.,.	2/4:44:43:255,.,.,242,.,204,.,.,.,.,255,.,0,.,255	1/2:45:42:255,78,42,242,0,255,.,.,.,.,.,.,.,.,.	2/3:21:18:255,.,.,97,.,156,255,.,0,255,.,.,.,.,.	2/1:38:38:255,255,255,255,0,207,.,.,.,.,.,.,.,.,.	2/4:33:23:255,.,.,34,.,210,.,.,.,.,105,.,0,.,255	0/1:35:28:255,26,162,.,.,.,.,.,.,.,.,.,.,.,.	1/2:65:64:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.	0/2:40:30:255,.,.,0,.,165,.,.,.,.,.,.,.,.,.	0/1:52:32:255,0,188,.,.,.,.,.,.,.,.,.,.,.,.	0/1:49:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/2:63:50:255,.,.,0,.,169,.,.,.,.,.,.,.,.,.	2/4:61:61:255,.,.,255,.,218,.,.,.,.,255,.,0,.,255	1/2:17:13:197,43,138,57,0,154,.,.,.,.,.,.,.,.,.	0/2:35:23:255,.,.,0,.,219,.,.,.,.,.,.,.,.,.	0/1:40:20:162,0,255,.,.,.,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACAC,AACACACACACACACACACACACACACAC,AACACACACACACACACACACACACACACACACAC,AACACACACACACACACACACACACAC	0	24	.	.	.	.		.	.	.	.	.	.	.	
H	7	65419353	rs368976580	T	TTTATTA	197.87	PASS	VKORC1L1	vitamin K epoxide reductase complex, subunit 1-like 1	exonic	NM_001284342	.	nonframeshift insertion	VKORC1L1:NM_001284342:exon2:c.487_488insTTATTA:p.F163delinsFII	ENST00000434382.2,ENST00000360768.3	.	7q11.21	.	.	.	.	.	rs368976580	.	.	.	.	.	.	0.0009	0.0032	0.0127841	0.00869565	.	.	.	.	.	.	.	.	.	.	-0.076393,3.627	.	AC=17,2,1;AN=38;DP4=70,144,66,185;DP=723;HOB=0.5;ICB=1;IDV=24;IMF=0.545455;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,5,6,7,8,9,10,12,13,14,15,17,18,20,21,23,24;SGB=-0.692914;VDB=0.00756578	GT:DP:DV:PL	0/1:28:25:255,0,86,.,.,.,.,.,.,.	.	.	0/1:21:10:255,0,255,.,.,.,.,.,.,.	0/1:22:12:255,0,255,.,.,.,.,.,.,.	0/1:33:19:255,0,255,.,.,.,.,.,.,.	0/1:27:24:255,0,32,.,.,.,.,.,.,.	0/3:33:6:127,.,.,.,.,.,0,.,.,255	1/2:21:19:255,141,215,255,0,255,.,.,.,.	0/2:18:10:179,.,.,0,.,255,.,.,.,.	0/1:24:8:246,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,215,.,.,.,.,.,.,.	0/1:10:2:65,0,238,.,.,.,.,.,.,.	0/1:19:11:255,0,202,.,.,.,.,.,.,.	0/1:25:9:242,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,255,.,.,.,.,.,.,.	0/1:23:13:255,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,255,.,.,.,.,.,.,.	0/1:27:13:255,0,255,.,.,.,.,.,.,.	.	0/1:29:15:255,0,255,.,.,.,.,.,.,.	0/1:42:22:255,0,255,.,.,.,.,.,.,.	TTTATTATTATTATTATTATTATTATT	TTTATTATTATTATTATTATTATTATTATT,TTTATTATTATTATTATTATTATTATTATTATT,TTTATTATTATTATTATTATTATT	0	19	Vitamin K epoxide reductase complex, subunit 1-like 1	.	.	.	23928358|14765194	.	.	.	.	.	.	.	PM4
L	7	65419353	rs772832119	TTTA	T	197.87	PASS	VKORC1L1	vitamin K epoxide reductase complex, subunit 1-like 1	exonic	NM_001284342	.	nonframeshift deletion	VKORC1L1:NM_001284342:exon2:c.488_490del:p.163_164del	ENST00000434382.2,ENST00000360768.3	.	7q11.21	.	.	.	.	Score=234;Name="4333544:(TTA)n(Simple_repeat)"	rs772832119	.	.	.	.	.	.	0.0092	0.0048	0.00426136	0.00869565	.	.	.	.	.	.	.	.	.	.	0.318780,5.728	.	AC=17,2,1;AN=38;DP4=70,144,66,185;DP=723;HOB=0.5;ICB=1;IDV=24;IMF=0.545455;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,5,6,7,8,9,10,12,13,14,15,17,18,20,21,23,24;SGB=-0.692914;VDB=0.00756578	GT:DP:DV:PL	0/1:28:25:255,0,86,.,.,.,.,.,.,.	.	.	0/1:21:10:255,0,255,.,.,.,.,.,.,.	0/1:22:12:255,0,255,.,.,.,.,.,.,.	0/1:33:19:255,0,255,.,.,.,.,.,.,.	0/1:27:24:255,0,32,.,.,.,.,.,.,.	0/3:33:6:127,.,.,.,.,.,0,.,.,255	1/2:21:19:255,141,215,255,0,255,.,.,.,.	0/2:18:10:179,.,.,0,.,255,.,.,.,.	0/1:24:8:246,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,215,.,.,.,.,.,.,.	0/1:10:2:65,0,238,.,.,.,.,.,.,.	0/1:19:11:255,0,202,.,.,.,.,.,.,.	0/1:25:9:242,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,255,.,.,.,.,.,.,.	0/1:23:13:255,0,255,.,.,.,.,.,.,.	.	0/1:21:11:255,0,255,.,.,.,.,.,.,.	0/1:27:13:255,0,255,.,.,.,.,.,.,.	.	0/1:29:15:255,0,255,.,.,.,.,.,.,.	0/1:42:22:255,0,255,.,.,.,.,.,.,.	TTTATTATTATTATTATTATTATTATT	TTTATTATTATTATTATTATTATTATTATT,TTTATTATTATTATTATTATTATTATTATTATT,TTTATTATTATTATTATTATTATT	0	19	Vitamin K epoxide reductase complex, subunit 1-like 1	.	.	.	23928358|14765194	.	.	.	.	.	.	.	
L	7	65419354	.	T	TTAG	94	PASS	VKORC1L1	vitamin K epoxide reductase complex, subunit 1-like 1	exonic	NM_001284342	.	nonframeshift insertion	VKORC1L1:NM_001284342:exon2:c.488_489insTAG:p.F163delinsFS	ENST00000434382.2,ENST00000360768.3	.	7q11.21	.	.	.	.	Score=234;Name="4333544:(TTA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=4,11,3,3;DP=39;HOB=0.5;ICB=1;IDV=2;IMF=0.0512821;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.616816;VDB=0.0130319	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:21:6:128,0,255	.	.	.	.	TTA	TTAGTA	0	1	Vitamin K epoxide reductase complex, subunit 1-like 1	.	.	.	23928358|14765194	.	.	.	.	.	.	.	PM2
L	7	76069660	rs199893994	TGAG	T	72.13	PASS	ZP3	zona pellucida glycoprotein 3 (sperm receptor)	splicing	NM_001110354,NM_007155	.	.	.	ENST00000467555.1,ENST00000394857.3,ENST00000416245.1,ENST00000336517.4	.	7q11.23	.	.	.	Score=0.989889;Name=chr7:76231628	.	rs199893994	.	.	0.0116279	0.0109	0.00399361	.	0	0	0.0589586393568	0.0997596704327	.	.	.	.	.	.	.	.	.	.	2.729245,15.09	.	AC=9;AN=16;DP4=134,56,86,8;DP=314;HOB=0.5;ICB=1;IDV=16;IMF=0.444444;MQ0F=0;MQ=39;MQSB=0.520031;SF=8,9,12,16,17,18,20,21;SGB=-0.689466;VDB=0.0218634	GT:DP:DV:PL	.	.	.	.	.	.	.	.	0/1:33:16:123,0,255	0/1:13:4:59,0,255	.	.	0/1:51:18:126,0,255	.	.	.	1/1:11:11:188,33,0	0/1:43:11:87,0,255	0/1:28:8:82,0,255	.	0/1:50:10:76,0,255	0/1:55:16:110,0,255	.	.	.	TGAGGAGGA	TGAGGA	1	7	Zona pellucida glycoprotein-3 (sperm receptor)	.	.	.	19052627|11940668|8467708|7789967|1968044|1556174|1478648	.	.	ENZYME_BINDING	.	.	.	.	
L	7	102038153	rs782041466	CTGTGTGTG	C	198.8	PASS	PRKRIP1	PRKR interacting protein 1 (IL11 inducible)	splicing	NM_024653	.	.	.	ENST00000397912.3,ENST00000354783.4,ENST00000496391.1,ENST00000482465.1,ENST00000462601.1	.	7q22.1	.	.	.	.	Score=279;Name="4406714:(TG)n(Simple_repeat)"	rs782041466	.	.	.	.	.	.	0.0031	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	2.485184,14.27	.	AC=40,5,4,1;AN=50;DP4=0,0,129,223;DP=535;IDV=10;IMF=0.555556;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.670168;VDB=0.086416	GT:DP:DV:PL	1/1:10:10:255,56,29,.,.,.,.,.,.,.,.,.,.,.,.	1/1:15:15:255,57,15,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.	1/1:21:21:255,54,0,.,.,.,.,.,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.,.,.,.,.,.	1/2:21:21:255,97,40,255,0,255,.,.,.,.,.,.,.,.,.	1/3:12:12:255,150,132,.,.,.,233,0,.,215,.,.,.,.,.	1/2:13:13:255,134,104,255,0,255,.,.,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.	1/4:7:7:229,56,41,.,.,.,.,.,.,.,181,0,.,.,178	3/1:12:12:244,144,135,.,.,.,120,0,.,99,.,.,.,.,.	1/2:15:15:255,105,69,255,0,255,.,.,.,.,.,.,.,.,.	1/3:7:7:219,89,77,.,.,.,145,0,.,136,.,.,.,.,.	1/1:18:18:255,57,6,.,.,.,.,.,.,.,.,.,.,.,.	1/1:14:14:255,57,21,.,.,.,.,.,.,.,.,.,.,.,.	1/1:13:13:255,57,24,.,.,.,.,.,.,.,.,.,.,.,.	1/1:21:21:255,68,11,.,.,.,.,.,.,.,.,.,.,.,.	1/1:22:22:255,63,0,.,.,.,.,.,.,.,.,.,.,.,.	1/2:16:16:255,104,68,255,0,255,.,.,.,.,.,.,.,.,.	1/1:8:8:255,57,36,.,.,.,.,.,.,.,.,.,.,.,.	1/2:17:17:255,192,153,255,0,255,.,.,.,.,.,.,.,.,.	1/1:20:20:255,57,0,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:244,33,18,.,.,.,.,.,.,.,.,.,.,.,.	3/1:9:9:158,84,75,.,.,.,92,0,.,77,.,.,.,.,.	1/1:14:14:255,42,0,.,.,.,.,.,.,.,.,.,.,.,.	CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,CTGTGTGTGTGTGTGTGTGTGTGT	15	10	.	.	.	.		.	.	.	.	.	.	.	
L	7	150327234	.	CAAAAAAA	C	31.22	PASS	GIMAP6	GTPase, IMAP family member 6	splicing	NM_001244071,NM_001244072,NM_024711	.	.	.	ENST00000328902.5,ENST00000493969.1	.	7q36.1	.	.	.	.	Score=198;Name="4491139:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.304599,2.549	.	AC=5,1,2;AN=8;DP4=3,0,36,25;DP=102;IDV=15;IMF=0.681818;MQ0F=0;MQ=60;MQSB=1;SF=2,3,20,24;SGB=-0.683931;VDB=0.344457	GT:DP:DV:PL	.	.	1/1:13:13:62,31,10,.,.,.,.,.,.,.	1/1:17:17:51,24,0,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:16:14:108,67,53,51,0,45,.,.,.,.	.	.	.	3/3:18:17:78,.,.,.,.,.,36,.,.,23	CAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAAAA	3	1	.	.	.	.		.	.	.	.	.	.	.	PM2
H	7	156802643	.	A	AGCGCCGGCG	73.5	PASS	MNX1	motor neuron and pancreas homeobox 1	exonic	NM_005515	.	nonframeshift insertion	MNX1:NM_005515:exon1:c.401_402insCGCCGGCGC:p.A134delinsAAGA	ENST00000252971.6	CpG: 222	7q36.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,1;AN=4;DP4=0,0,1,4;DP=11;IDV=2;IMF=0.4;MQ0F=0;MQ=60;MQSB=1;SF=16,20;SGB=-0.453602;VDB=0.06	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:2:2:111,57,54,57,0,54	.	.	.	1/1:3:3:125,9,0,.,.,.	.	.	.	.	AGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,AGCGCCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	1	1	Currarino syndrome, 176450 (3)	.	.	.	16906559|15216552|11940082|11528505|10749657|10631160|10471502|9843207|7914194|7550324|1712647|1283323	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;IMMUNE_RESPONSE;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;IMMUNE_SYSTEM_PROCESS;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;HUMORAL_IMMUNE_RESPONSE;REGULATION_OF_TRANSCRIPTION	.	RNA_POLYMERASE_II_TRANSCRIPTION_FACTOR_ACTIVITY	KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	.	.	.	PM2,PM4
L	8	11666218	rs71711801	GTCCCAC	G	223.52	PASS	FDFT1	farnesyl-diphosphate farnesyltransferase 1	exonic	NM_001287750	.	nonframeshift deletion	FDFT1:NM_001287750:exon1:c.193_198del:p.65_66del	ENST00000538689.1,ENST00000446331.2,ENST00000525900.1,ENST00000220584.4,ENST00000528812.1,ENST00000443614.2,ENST00000530664.1	.	8p23.1	.	.	Score=843;Name=V$P300_01	.	Score=292;Name="4524244:C-rich(Low_complexity)"	rs71711801	.	.	.	.	.	.	.	.	0.880682	0.96087	.	.	.	.	.	.	.	.	.	.	1.682493,11.58	.	AC=45,3;AN=50;DP4=56,20,1092,683;DP=2144;HOB=0.5;ICB=1;IDV=36;IMF=0.433735;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=9.86065e-05	GT:DP:DV:PL	0/1:72:37:255,0,255,.,.,.	1/1:75:75:255,226,0,.,.,.	1/1:70:70:255,211,0,.,.,.	1/2:47:47:255,255,255,255,0,255	1/1:55:55:255,166,0,.,.,.	1/1:149:149:255,255,0,.,.,.	1/1:67:67:255,202,0,.,.,.	1/1:68:68:255,202,0,.,.,.	1/1:41:41:255,123,0,.,.,.	1/1:31:31:255,93,0,.,.,.	1/1:54:54:255,163,0,.,.,.	1/2:41:41:255,255,255,255,0,255	1/1:59:59:255,178,0,.,.,.	1/1:68:68:255,205,0,.,.,.	0/1:74:33:255,0,255,.,.,.	1/1:53:53:255,160,0,.,.,.	1/1:63:63:255,187,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:38:38:255,114,0,.,.,.	1/1:56:56:255,169,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:181:181:255,255,0,.,.,.	1/2:33:33:255,255,255,255,0,255	1/1:192:192:255,255,0,.,.,.	1/1:170:170:255,255,0,.,.,.	GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC	GTCCCACTCCCACTCCCACTCCCACTCCCACTCC,GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC	20	5	Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase)	.	.	.	19054015|16440058|8020937|7685352|7665618	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	KEGG_STEROID_BIOSYNTHESIS	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CHOLESTEROL_BIOSYNTHESIS	
L	8	11666218	.	G	GTCCCACTCCCAC	223.52	PASS	FDFT1	farnesyl-diphosphate farnesyltransferase 1	exonic	NM_001287750	.	nonframeshift insertion	FDFT1:NM_001287750:exon1:c.192_193insTCCCACTCCCAC:p.Q64delinsQSHSH	ENST00000538689.1,ENST00000446331.2,ENST00000525900.1,ENST00000220584.4,ENST00000528812.1,ENST00000443614.2,ENST00000530664.1	.	8p23.1	.	.	Score=843;Name=V$P300_01	.	Score=292;Name="4524244:C-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	0.0113636	0.0217391	.	.	.	.	.	.	.	.	.	.	-0.011063,3.957	.	AC=45,3;AN=50;DP4=56,20,1092,683;DP=2144;HOB=0.5;ICB=1;IDV=36;IMF=0.433735;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693141;VDB=9.86065e-05	GT:DP:DV:PL	0/1:72:37:255,0,255,.,.,.	1/1:75:75:255,226,0,.,.,.	1/1:70:70:255,211,0,.,.,.	1/2:47:47:255,255,255,255,0,255	1/1:55:55:255,166,0,.,.,.	1/1:149:149:255,255,0,.,.,.	1/1:67:67:255,202,0,.,.,.	1/1:68:68:255,202,0,.,.,.	1/1:41:41:255,123,0,.,.,.	1/1:31:31:255,93,0,.,.,.	1/1:54:54:255,163,0,.,.,.	1/2:41:41:255,255,255,255,0,255	1/1:59:59:255,178,0,.,.,.	1/1:68:68:255,205,0,.,.,.	0/1:74:33:255,0,255,.,.,.	1/1:53:53:255,160,0,.,.,.	1/1:63:63:255,187,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:38:38:255,114,0,.,.,.	1/1:56:56:255,169,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:181:181:255,255,0,.,.,.	1/2:33:33:255,255,255,255,0,255	1/1:192:192:255,255,0,.,.,.	1/1:170:170:255,255,0,.,.,.	GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC	GTCCCACTCCCACTCCCACTCCCACTCCCACTCC,GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC	20	5	Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase)	.	.	.	19054015|16440058|8020937|7685352|7665618	.	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE	.	KEGG_STEROID_BIOSYNTHESIS	.	.	REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CHOLESTEROL_BIOSYNTHESIS	
L	8	15978124	rs778214436	TTAAAA	T	45.65	PASS	MSR1	macrophage scavenger receptor 1	splicing	NM_138715	.	.	.	ENST00000262101.5,ENST00000445506.2,ENST00000355282.2,ENST00000350896.3	.	8p22	.	.	.	.	Score=225;Name="4531465:(A)n(Simple_repeat)"	rs778214436	.	.	.	.	.	0.0112	0.0010	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	-0.436065,1.973	.	AC=1,1,1;AN=6;DP4=9,15,5,12;DP=83;HOB=0.5;ICB=1;IDV=7;IMF=0.212121;MQ0F=0;MQ=60;MQSB=0.964642;SF=14,20,24;SGB=-0.590765;VDB=0.00689749	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/3:11:5:93,.,.,.,.,.,0,.,.,138	.	.	.	.	.	0/1:15:7:.,.,138,.,.,.,.,.,.,.	.	.	.	0/2:15:5:.,.,.,.,.,169,.,.,.,.	TTAAAAAAAA	TAAAA,TA,T	0	3	Prostate cancer, hereditary, 176807 (3); Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	.	.	.	21791690|17167049|16287155|15567863|15536476|12958598|12839931|12471593|12244320|11443539|9645438|8093617|2251254	ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;RECEPTOR_MEDIATED_ENDOCYTOSIS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	
L	8	15978124	rs751806093	TTAAAAAAA	T	45.65	PASS	MSR1	macrophage scavenger receptor 1	splicing	NM_138715	.	.	.	ENST00000262101.5,ENST00000445506.2,ENST00000355282.2,ENST00000350896.3	.	8p22	.	.	.	.	Score=225;Name="4531465:(A)n(Simple_repeat)"	rs751806093	.	.	.	.	.	.	0.0092	0.0495	.	.	.	.	.	.	.	.	.	.	.	.	-0.436065,1.973	.	AC=1,1,1;AN=6;DP4=9,15,5,12;DP=83;HOB=0.5;ICB=1;IDV=7;IMF=0.212121;MQ0F=0;MQ=60;MQSB=0.964642;SF=14,20,24;SGB=-0.590765;VDB=0.00689749	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/3:11:5:93,.,.,.,.,.,0,.,.,138	.	.	.	.	.	0/1:15:7:.,.,138,.,.,.,.,.,.,.	.	.	.	0/2:15:5:.,.,.,.,.,169,.,.,.,.	TTAAAAAAAA	TAAAA,TA,T	0	3	Prostate cancer, hereditary, 176807 (3); Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	.	.	.	21791690|17167049|16287155|15567863|15536476|12958598|12839931|12471593|12244320|11443539|9645438|8093617|2251254	ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;RECEPTOR_MEDIATED_ENDOCYTOSIS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	
L	8	15978124	rs757567200	TTAAAAAAAA	T	45.65	PASS	MSR1	macrophage scavenger receptor 1	splicing	NM_138715	.	.	.	ENST00000262101.5,ENST00000445506.2,ENST00000355282.2,ENST00000350896.3	.	8p22	.	.	.	.	Score=225;Name="4531465:(A)n(Simple_repeat)"	rs757567200	.	.	.	.	.	.	0.0047	0.0220	.	.	.	.	.	.	.	.	.	.	.	.	-0.436065,1.973	.	AC=1,1,1;AN=6;DP4=9,15,5,12;DP=83;HOB=0.5;ICB=1;IDV=7;IMF=0.212121;MQ0F=0;MQ=60;MQSB=0.964642;SF=14,20,24;SGB=-0.590765;VDB=0.00689749	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/3:11:5:93,.,.,.,.,.,0,.,.,138	.	.	.	.	.	0/1:15:7:.,.,138,.,.,.,.,.,.,.	.	.	.	0/2:15:5:.,.,.,.,.,169,.,.,.,.	TTAAAAAAAA	TAAAA,TA,T	0	3	Prostate cancer, hereditary, 176807 (3); Barrett esophagus/esophageal adenocarcinoma, 614266 (3)	.	.	.	21791690|17167049|16287155|15567863|15536476|12958598|12839931|12471593|12244320|11443539|9645438|8093617|2251254	ESTABLISHMENT_OF_LOCALIZATION;MEMBRANE_ORGANIZATION_AND_BIOGENESIS;TRANSPORT;VESICLE_MEDIATED_TRANSPORT;RECEPTOR_MEDIATED_ENDOCYTOSIS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY	.	.	.	.	
L	8	73921283	rs757766340	CGAG	C	64.4	PASS	TERF1	telomeric repeat binding factor (NIMA-interacting) 1	exonic	NM_003218,NM_017489	.	nonframeshift deletion	TERF1:NM_003218:exon1:c.163_165del:p.55_55del,TERF1:NM_017489:exon1:c.163_165del:p.55_55del	ENST00000276603.5,ENST00000276602.6	CpG: 67	8q21.11	.	.	.	.	Score=234;Name="4627788:(GGA)n(Simple_repeat)"	rs757766340	.	.	.	.	.	.	6.827e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=5;AN=10;DP4=86,32,13,11;DP=190;HOB=0.5;ICB=1;IDV=5;IMF=0.119048;MQ0F=0;MQ=58;MQSB=0.860349;SF=1,5,17,20,22;SGB=-0.590765;VDB=0.065842	GT:DP:DV:PL	.	0/1:29:5:123,0,255	.	.	.	0/1:35:4:67,0,255	.	.	.	.	.	.	.	.	.	.	.	0/1:22:5:112,0,255	.	.	0/1:32:4:64,0,255	.	0/1:24:6:137,0,255	.	.	CGAGGAGGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGAGGAGGA	0	5	Telomeric repeat binding factor 1	.	.	.	22556254|19679647|19060891|18202258|16598261|15229185|14681297|12944955|12915656|12135354|11545737|11327863|11063723|10581025|10338214|9542529|9034193|9020083|9002672|7502076|7502069	.	NUCLEUS	IDENTICAL_PROTEIN_BINDING;TELOMERIC_DNA_BINDING;SEQUENCE_SPECIFIC_DNA_BINDING;DOUBLE_STRANDED_DNA_BINDING;STRUCTURE_SPECIFIC_DNA_BINDING;DNA_BINDING	.	PID_TELOMERASEPATHWAY	BIOCARTA_TEL_PATHWAY	REACTOME_MEIOSIS;REACTOME_CELL_CYCLE;REACTOME_CHROMOSOME_MAINTENANCE;REACTOME_MEIOTIC_SYNAPSIS;REACTOME_PACKAGING_OF_TELOMERE_ENDS;REACTOME_TELOMERE_MAINTENANCE	PM2
H	8	82598202	rs200633557	T	TTCGG	221	PASS	IMPA1	inositol(myo)-1(or 4)-monophosphatase 1	splicing	NM_001144878	.	.	.	ENST00000523710.1,ENST00000256108.5,ENST00000311489.4,ENST00000449740.2	.	8q21.13	.	.	.	.	.	rs200633557	.	.	0.00498339	0.006	0.00119808	.	.	.	0.00994318	0.00721154540865	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=12,25,4,13;DP=66;HOB=0.5;ICB=1;IDV=17;IMF=0.257576;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.690438;VDB=0.0112631	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:54:17:255,0,255	.	.	.	.	TTCGG	TTCGGTCGG	0	1	Inositol(myo)-1(or 4)-monophosphatase-1	.	.	.	9339367|8845858|8710892|1377913	PHOSPHOLIPID_BIOSYNTHETIC_PROCESS;GLYCEROPHOSPHOLIPID_BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;BIOSYNTHETIC_PROCESS;MEMBRANE_LIPID_BIOSYNTHETIC_PROCESS;LIPID_METABOLIC_PROCESS;LIPID_BIOSYNTHETIC_PROCESS;PHOSPHOINOSITIDE_BIOSYNTHETIC_PROCESS;CELLULAR_LIPID_METABOLIC_PROCESS;GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOLIPID_METABOLIC_PROCESS;PHOSPHOINOSITIDE_METABOLIC_PROCESS	CYTOPLASM	PHOSPHORIC_MONOESTER_HYDROLASE_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS;PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY;INOSITOL_OR_PHOSPHATIDYLINOSITOL_PHOSPHATASE_ACTIVITY	KEGG_INOSITOL_PHOSPHATE_METABOLISM;KEGG_PHOSPHATIDYLINOSITOL_SIGNALING_SYSTEM	.	.	.	
L	8	89198830	.	GCAAAAAA	G	47.44	PASS	MMP16	matrix metallopeptidase 16 (membrane-inserted)	splicing	NM_005941	.	.	.	ENST00000544227.1,ENST00000286614.6	.	8q21.3	.	.	.	.	Score=216;Name="4653452:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=8,3,3,5;DP=34;HOB=0.5;ICB=1;IDV=3;IMF=0.157895;MQ0F=0;MQ=60;MQSB=0.950952;SF=20,24;SGB=-0.556411;VDB=0.00878963	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:11:4:.,.,.,.,.,216	.	.	.	0/1:8:4:78,0,92,.,.,.	GCAAAAAA	G,GAA	0	2	Matrix metalloproteinase 16 (membrane-inserted)	.	.	.	9119382|9070935|7559440	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ION_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PM2
L	8	89198830	.	GCAAAA	G	47.44	PASS	MMP16	matrix metallopeptidase 16 (membrane-inserted)	splicing	NM_005941	.	.	.	ENST00000544227.1,ENST00000286614.6	.	8q21.3	.	.	.	.	Score=216;Name="4653452:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=8,3,3,5;DP=34;HOB=0.5;ICB=1;IDV=3;IMF=0.157895;MQ0F=0;MQ=60;MQSB=0.950952;SF=20,24;SGB=-0.556411;VDB=0.00878963	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:11:4:.,.,.,.,.,216	.	.	.	0/1:8:4:78,0,92,.,.,.	GCAAAAAA	G,GAA	0	2	Matrix metalloproteinase 16 (membrane-inserted)	.	.	.	9119382|9070935|7559440	.	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_BINDING;ZINC_ION_BINDING;METALLOPEPTIDASE_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;ION_BINDING;ENDOPEPTIDASE_ACTIVITY;PEPTIDASE_ACTIVITY;TRANSITION_METAL_ION_BINDING;METALLOENDOPEPTIDASE_ACTIVITY	.	.	.	REACTOME_DEGRADATION_OF_THE_EXTRACELLULAR_MATRIX;REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION	PM2
L	8	144511952	.	CATG	C	100.78	PASS	MAFA	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	exonic	NM_201589	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.622_624del:p.208_208del	ENST00000528185.1,ENST00000333480.2	CpG: 294	8q24.3	.	.	.	.	Score=280;Name="4755896:(TGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	0.015625	0.0304348	.	.	.	.	.	.	.	.	.	.	1.870234,12.21	.	AC=21;AN=42;DP4=90,128,204,89;DP=877;HOB=0.5;ICB=1;IDV=5;IMF=0.178571;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,7,9,10,12,13,14,15,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.240621	GT:DP:DV:PL	0/1:19:11:159,0,133	0/1:23:13:143,0,129	0/1:24:12:146,0,150	.	0/1:22:10:84,0,159	0/1:41:29:173,0,104	0/1:22:11:104,0,187	0/1:27:15:187,0,139	.	0/1:13:6:95,0,102	0/1:18:7:59,0,183	.	0/1:24:15:181,0,130	0/1:30:23:152,0,71	0/1:15:9:114,0,83	0/1:16:11:171,0,92	.	0/1:22:10:118,0,166	0/1:20:8:76,0,167	0/1:25:14:114,0,150	0/1:17:13:155,0,40	0/1:39:23:192,0,191	0/1:26:16:156,0,152	0/1:43:24:140,0,214	0/1:25:13:96,0,152	CATG	C	0	21	v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A	.	.	.	18754011|15923615|15665000|12011435	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;TRANSCRIPTION_DNA_DEPENDENT;RESPONSE_TO_CARBOHYDRATE_STIMULUS;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;RESPONSE_TO_CHEMICAL_STIMULUS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTION;RESPONSE_TO_ORGANIC_SUBSTANCE	NUCLEUS	PROTEIN_HOMODIMERIZATION_ACTIVITY;IDENTICAL_PROTEIN_BINDING;TRANSCRIPTION_FACTOR_ACTIVITY;PROTEIN_DIMERIZATION_ACTIVITY;DNA_BINDING	KEGG_TYPE_II_DIABETES_MELLITUS;KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	.	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_REGULATION_OF_BETA_CELL_DEVELOPMENT;REACTOME_REGULATION_OF_GENE_EXPRESSION_IN_BETA_CELLS	
L	9	2039776	rs745316697	A	ACAG	168.4	PASS	SMARCA2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	exonic	NM_001289396,NM_001289397,NM_003070,NM_139045	.	nonframeshift insertion	SMARCA2:NM_001289396:exon4:c.666_667insCAG:p.Q222delinsQQ,SMARCA2:NM_001289397:exon4:c.666_667insCAG:p.Q222delinsQQ,SMARCA2:NM_003070:exon4:c.666_667insCAG:p.Q222delinsQQ,SMARCA2:NM_139045:exon4:c.666_667insCAG:p.Q222delinsQQ	ENST00000382194.1,ENST00000382203.1,ENST00000491574.1,ENST00000349721.2,ENST00000357248.2	.	9p24.3	.	.	.	.	Score=678;Name="4762460:(CAG)n(Simple_repeat)"	rs745316697	CLINSIG=Likely benign;CLNDBN=not_specified;CLNACC=RCV000202841.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0119	0.0079	.	0.0217391	.	.	.	.	.	.	.	.	.	.	3.284501,17.03	.	AC=18,2;AN=34;DP4=74,36,89,57;DP=379;HOB=0.5;ICB=1;IDV=10;IMF=0.344828;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,6,7,8,10,13,16,17,18,19,20,22,23,24;SGB=-0.670168;VDB=0.0142047	GT:DP:DV:PL	0/1:22:10:255,0,255,.,.,.	0/1:13:7:198,0,220,.,.,.	.	0/1:19:10:243,0,255,.,.,.	0/1:9:3:56,0,255,.,.,.	.	0/1:13:6:206,0,255,.,.,.	1/1:15:15:255,45,0,.,.,.	0/1:15:7:242,0,255,.,.,.	.	0/1:18:9:247,0,255,.,.,.	.	.	0/1:17:4:114,0,255,.,.,.	.	.	1/2:15:15:255,217,190,255,0,255	0/1:10:6:220,0,145,.,.,.	0/1:15:2:72,0,255,.,.,.	0/1:10:3:141,0,255,.,.,.	1/1:25:25:255,75,0,.,.,.	.	0/2:13:8:222,.,.,0,.,180	0/1:12:5:213,0,235,.,.,.	0/1:15:11:255,0,169,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	2	15	Nicolaides-Baraitser syndrome, 601358 (3)	.	.	.	22426308|22366787|20457675|19606471|19363039|15696166|12620226|12198550|11175787|9521582|8670841|8223438|8012116|7774911	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	NUCLEOPLASM;ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_ORGANELLE_PART	HELICASE_ACTIVITY;TRANSCRIPTION_COACTIVATOR_ACTIVITY;TRANSCRIPTION_ACTIVATOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_E2F_PATHWAY;PID_AR_TF_PATHWAY;PID_CMYB_PATHWAY	.	.	
L	9	12775861	.	T	TGGCGGCGGCGGCGGCGGCGGC	216.86	PASS	LURAP1L	leucine rich adaptor protein 1-like	exonic	NM_203403	.	nonframeshift insertion	LURAP1L:NM_203403:exon1:c.147_148insGGCGGCGGCGGCGGCGGCGGC:p.G49delinsGGGGGGGG	ENST00000489107.1,ENST00000319264.3,ENST00000417638.1	.	9p23	.	.	.	.	Score=201;Name="4780423:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=34,5,1;AN=44;DP4=71,40,633,568;DP=1751;HOB=0.5;ICB=1;IDV=62;IMF=0.72093;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,8,9,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=6.95406e-06	GT:DP:DV:PL	1/1:66:66:255,184,0,.,.,.,.,.,.,.	1/1:60:60:255,175,0,.,.,.,.,.,.,.	1/3:79:79:255,255,255,.,.,.,255,0,.,255	1/2:70:70:255,255,133,255,0,255,.,.,.,.	1/1:49:49:255,144,0,.,.,.,.,.,.,.	0/1:75:39:255,0,255,.,.,.,.,.,.,.	1/1:42:42:255,126,0,.,.,.,.,.,.,.	.	0/1:59:28:255,0,255,.,.,.,.,.,.,.	1/1:39:39:255,117,0,.,.,.,.,.,.,.	.	1/1:63:63:255,175,0,.,.,.,.,.,.,.	.	1/1:72:72:255,217,0,.,.,.,.,.,.,.	1/1:77:77:255,211,0,.,.,.,.,.,.,.	1/2:45:45:255,255,160,255,0,255,.,.,.,.	1/1:57:57:255,163,0,.,.,.,.,.,.,.	1/2:54:54:255,220,75,255,0,255,.,.,.,.	0/1:45:27:255,0,255,.,.,.,.,.,.,.	1/2:57:56:255,186,92,255,0,255,.,.,.,.	1/1:58:58:255,169,0,.,.,.,.,.,.,.	1/2:76:76:255,255,70,255,0,255,.,.,.,.	1/1:25:25:255,75,0,.,.,.,.,.,.,.	0/1:63:38:255,0,255,.,.,.,.,.,.,.	1/1:81:81:255,223,0,.,.,.,.,.,.,.	TGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	12	10	Leucine-rich adaptor protein 1-like	.	.	.	25107909	.	.	.	.	.	.	.	PM2
L	9	35906583	rs79156963	T	TCCACCA	127.95	PASS	HRCT1	histidine rich carboxyl terminus 1	exonic	NM_001039792	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCA:p.L100delinsLHH	ENST00000354323.2	.	9p13.3	.	.	.	.	Score=375;Name="4819446:(CCA)n(Simple_repeat)"	rs79156963	.	.	.	.	.	.	.	.	.	0.0608696	.	.	.	.	.	.	.	.	.	.	1.015334,9.147	.	AC=5,17,3,1;AN=36;DP4=3,63,2,124;DP=272;HOB=0.5;ICB=1;IDV=3;IMF=0.176471;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,8,10,11,12,13,14,15,16,17,20,21,22,24;SGB=-0.511536;VDB=0.23997	GT:DP:DV:PL	.	0/3:4:3:140,.,.,.,.,.,0,.,.,7,.,.,.,.,.	0/4:7:2:.,.,.,.,.,.,.,.,.,.,.,.,.,.,180	2/1:15:15:255,254,236,183,0,156,.,.,.,.,.,.,.,.,.	0/3:5:2:96,.,.,.,.,.,0,.,.,137,.,.,.,.,.	0/2:31:10:129,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	.	0/1:14:8:237,0,198,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:4:4:151,40,31,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:2:55,.,.,0,.,192,.,.,.,.,.,.,.,.,.	2/2:2:2:110,.,.,6,.,0,.,.,.,.,.,.,.,.,.	2/2:13:13:255,.,.,39,.,0,.,.,.,.,.,.,.,.,.	0/2:8:2:79,.,.,0,.,211,.,.,.,.,.,.,.,.,.	2/2:8:8:255,.,.,24,.,0,.,.,.,.,.,.,.,.,.	2/2:6:5:162,.,.,1,.,0,.,.,.,.,.,.,.,.,.	1/2:5:5:212,100,91,121,0,115,.,.,.,.,.,.,.,.,.	.	.	0/2:11:4:118,.,.,0,.,255,.,.,.,.,.,.,.,.,.	3/2:29:29:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	0/2:11:6:196,.,.,0,.,165,.,.,.,.,.,.,.,.,.	.	0/2:11:6:191,.,.,0,.,175,.,.,.,.,.,.,.,.,.	TCCACCACCACCACCACC	TCCACCACCACCACCACCACCACC,TCCACCACCACCACC,TCCACCACCACCACCACCACCACCACCACC,TCCCCCACCACCACCACCACCACCACCACCACCACC	5	13	.	.	.	.		.	.	.	.	.	.	.	
L	9	35906583	.	T	TCCACCACCACCA	127.95	PASS	HRCT1	histidine rich carboxyl terminus 1	exonic	NM_001039792	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCA:p.L100delinsLHHHH	ENST00000354323.2	.	9p13.3	.	.	.	.	Score=375;Name="4819446:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.130435	.	.	.	.	.	.	.	.	.	.	0.937363,8.820	.	AC=5,17,3,1;AN=36;DP4=3,63,2,124;DP=272;HOB=0.5;ICB=1;IDV=3;IMF=0.176471;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,8,10,11,12,13,14,15,16,17,20,21,22,24;SGB=-0.511536;VDB=0.23997	GT:DP:DV:PL	.	0/3:4:3:140,.,.,.,.,.,0,.,.,7,.,.,.,.,.	0/4:7:2:.,.,.,.,.,.,.,.,.,.,.,.,.,.,180	2/1:15:15:255,254,236,183,0,156,.,.,.,.,.,.,.,.,.	0/3:5:2:96,.,.,.,.,.,0,.,.,137,.,.,.,.,.	0/2:31:10:129,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	.	0/1:14:8:237,0,198,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:4:4:151,40,31,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:2:55,.,.,0,.,192,.,.,.,.,.,.,.,.,.	2/2:2:2:110,.,.,6,.,0,.,.,.,.,.,.,.,.,.	2/2:13:13:255,.,.,39,.,0,.,.,.,.,.,.,.,.,.	0/2:8:2:79,.,.,0,.,211,.,.,.,.,.,.,.,.,.	2/2:8:8:255,.,.,24,.,0,.,.,.,.,.,.,.,.,.	2/2:6:5:162,.,.,1,.,0,.,.,.,.,.,.,.,.,.	1/2:5:5:212,100,91,121,0,115,.,.,.,.,.,.,.,.,.	.	.	0/2:11:4:118,.,.,0,.,255,.,.,.,.,.,.,.,.,.	3/2:29:29:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	0/2:11:6:196,.,.,0,.,165,.,.,.,.,.,.,.,.,.	.	0/2:11:6:191,.,.,0,.,175,.,.,.,.,.,.,.,.,.	TCCACCACCACCACCACC	TCCACCACCACCACCACCACCACC,TCCACCACCACCACC,TCCACCACCACCACCACCACCACCACCACC,TCCCCCACCACCACCACCACCACCACCACCACCACC	5	13	.	.	.	.		.	.	.	.	.	.	.	
L	9	35906583	.	T	TCCCCCACCACCACCACCA	127.95	PASS	HRCT1	histidine rich carboxyl terminus 1	exonic	NM_001039792	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCCCCACCACCACCACCA:p.L100delinsLPHHHHH	ENST00000354323.2	.	9p13.3	.	.	.	.	Score=375;Name="4819446:(CCA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=5,17,3,1;AN=36;DP4=3,63,2,124;DP=272;HOB=0.5;ICB=1;IDV=3;IMF=0.176471;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,8,10,11,12,13,14,15,16,17,20,21,22,24;SGB=-0.511536;VDB=0.23997	GT:DP:DV:PL	.	0/3:4:3:140,.,.,.,.,.,0,.,.,7,.,.,.,.,.	0/4:7:2:.,.,.,.,.,.,.,.,.,.,.,.,.,.,180	2/1:15:15:255,254,236,183,0,156,.,.,.,.,.,.,.,.,.	0/3:5:2:96,.,.,.,.,.,0,.,.,137,.,.,.,.,.	0/2:31:10:129,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	.	0/1:14:8:237,0,198,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:4:4:151,40,31,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:2:55,.,.,0,.,192,.,.,.,.,.,.,.,.,.	2/2:2:2:110,.,.,6,.,0,.,.,.,.,.,.,.,.,.	2/2:13:13:255,.,.,39,.,0,.,.,.,.,.,.,.,.,.	0/2:8:2:79,.,.,0,.,211,.,.,.,.,.,.,.,.,.	2/2:8:8:255,.,.,24,.,0,.,.,.,.,.,.,.,.,.	2/2:6:5:162,.,.,1,.,0,.,.,.,.,.,.,.,.,.	1/2:5:5:212,100,91,121,0,115,.,.,.,.,.,.,.,.,.	.	.	0/2:11:4:118,.,.,0,.,255,.,.,.,.,.,.,.,.,.	3/2:29:29:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	0/2:11:6:196,.,.,0,.,165,.,.,.,.,.,.,.,.,.	.	0/2:11:6:191,.,.,0,.,175,.,.,.,.,.,.,.,.,.	TCCACCACCACCACCACC	TCCACCACCACCACCACCACCACC,TCCACCACCACCACC,TCCACCACCACCACCACCACCACCACCACC,TCCCCCACCACCACCACCACCACCACCACCACCACC	5	13	.	.	.	.		.	.	.	.	.	.	.	PM2
L	9	95237024	rs397838876	CTCA	C	202.67	PASS	ASPN	asporin	exonic	NM_001193335,NM_017680	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.153_155del:p.51_52del,ASPN:NM_017680:exon2:c.153_155del:p.51_52del	ENST00000375543.1,ENST00000375544.3,ENST00000375587.3,ENST00000395538.3,ENST00000450139.2	.	9q22.31	.	.	.	.	Score=396;Name="4889486:(CAT)n(Simple_repeat)"	rs397838876	.	.	.	.	.	.	.	.	.	0.608696	.	.	.	.	.	.	.	.	.	.	0.284296,5.539	.	AC=31,11,4;AN=48;DP4=8,12,158,274;DP=746;HOB=0.5;ICB=1;IDV=19;IMF=0.575758;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=5.35693e-05	GT:DP:DV:PL	3/3:21:21:255,.,.,.,.,.,63,.,.,0	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	2/1:18:18:255,255,255,191,0,152,.,.,.,.	.	1/3:21:21:255,255,221,.,.,.,255,0,.,255	1/2:25:25:255,255,255,255,0,255,.,.,.,.	1/2:15:14:255,41,61,255,0,255,.,.,.,.	1/1:26:26:255,78,0,.,.,.,.,.,.,.	2/1:13:13:255,255,255,169,0,145,.,.,.,.	1/1:18:17:255,6,0,.,.,.,.,.,.,.	2/1:17:17:255,255,255,255,0,243,.,.,.,.	1/2:22:22:255,255,255,255,0,255,.,.,.,.	1/1:23:23:255,66,0,.,.,.,.,.,.,.	1/1:25:25:255,72,0,.,.,.,.,.,.,.	2/1:29:28:255,255,255,255,0,255,.,.,.,.	0/1:20:12:255,0,223,.,.,.,.,.,.,.	1/2:13:12:255,68,83,187,0,221,.,.,.,.	2/1:15:15:255,255,255,147,0,114,.,.,.,.	0/1:11:3:87,0,249,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.	2/1:16:16:255,255,255,255,0,250,.,.,.,.	2/3:28:28:255,.,.,255,.,255,255,.,0,255	CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	CTCATCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	10	14	{Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3)	.	.	.	18304494|17024313|15640800|11587855|11152695|11152692	.	.	.	.	.	.	.	
L	9	95237024	.	CTCATCA	C	202.67	PASS	ASPN	asporin	exonic	NM_001193335,NM_017680	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_155del:p.50_52del,ASPN:NM_017680:exon2:c.150_155del:p.50_52del	ENST00000375543.1,ENST00000375544.3,ENST00000375587.3,ENST00000395538.3,ENST00000450139.2	.	9q22.31	.	.	.	.	Score=396;Name="4889486:(CAT)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.217391	.	.	.	.	.	.	.	.	.	.	0.583618,7.150	.	AC=31,11,4;AN=48;DP4=8,12,158,274;DP=746;HOB=0.5;ICB=1;IDV=19;IMF=0.575758;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=5.35693e-05	GT:DP:DV:PL	3/3:21:21:255,.,.,.,.,.,63,.,.,0	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	2/1:18:18:255,255,255,191,0,152,.,.,.,.	.	1/3:21:21:255,255,221,.,.,.,255,0,.,255	1/2:25:25:255,255,255,255,0,255,.,.,.,.	1/2:15:14:255,41,61,255,0,255,.,.,.,.	1/1:26:26:255,78,0,.,.,.,.,.,.,.	2/1:13:13:255,255,255,169,0,145,.,.,.,.	1/1:18:17:255,6,0,.,.,.,.,.,.,.	2/1:17:17:255,255,255,255,0,243,.,.,.,.	1/2:22:22:255,255,255,255,0,255,.,.,.,.	1/1:23:23:255,66,0,.,.,.,.,.,.,.	1/1:25:25:255,72,0,.,.,.,.,.,.,.	2/1:29:28:255,255,255,255,0,255,.,.,.,.	0/1:20:12:255,0,223,.,.,.,.,.,.,.	1/2:13:12:255,68,83,187,0,221,.,.,.,.	2/1:15:15:255,255,255,147,0,114,.,.,.,.	0/1:11:3:87,0,249,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.	2/1:16:16:255,255,255,255,0,250,.,.,.,.	2/3:28:28:255,.,.,255,.,255,255,.,0,255	CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	CTCATCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	10	14	{Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3)	.	.	.	18304494|17024313|15640800|11587855|11152695|11152692	.	.	.	.	.	.	.	
H	9	95237024	.	C	CTCATCA	202.67	PASS	ASPN	asporin	exonic	NM_001193335,NM_017680	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.155_156insTGATGA:p.E52delinsDDE,ASPN:NM_017680:exon2:c.155_156insTGATGA:p.E52delinsDDE	ENST00000375543.1,ENST00000375544.3,ENST00000375587.3,ENST00000395538.3,ENST00000450139.2	.	9q22.31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434783	.	.	.	.	.	.	.	.	.	.	0.268529,5.452	.	AC=31,11,4;AN=48;DP4=8,12,158,274;DP=746;HOB=0.5;ICB=1;IDV=19;IMF=0.575758;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692352;VDB=5.35693e-05	GT:DP:DV:PL	3/3:21:21:255,.,.,.,.,.,63,.,.,0	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	2/1:18:18:255,255,255,191,0,152,.,.,.,.	.	1/3:21:21:255,255,221,.,.,.,255,0,.,255	1/2:25:25:255,255,255,255,0,255,.,.,.,.	1/2:15:14:255,41,61,255,0,255,.,.,.,.	1/1:26:26:255,78,0,.,.,.,.,.,.,.	2/1:13:13:255,255,255,169,0,145,.,.,.,.	1/1:18:17:255,6,0,.,.,.,.,.,.,.	2/1:17:17:255,255,255,255,0,243,.,.,.,.	1/2:22:22:255,255,255,255,0,255,.,.,.,.	1/1:23:23:255,66,0,.,.,.,.,.,.,.	1/1:25:25:255,72,0,.,.,.,.,.,.,.	2/1:29:28:255,255,255,255,0,255,.,.,.,.	0/1:20:12:255,0,223,.,.,.,.,.,.,.	1/2:13:12:255,68,83,187,0,221,.,.,.,.	2/1:15:15:255,255,255,147,0,114,.,.,.,.	0/1:11:3:87,0,249,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.	2/1:16:16:255,255,255,255,0,250,.,.,.,.	2/3:28:28:255,.,.,255,.,255,255,.,0,255	CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	CTCATCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATC,CTCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATCATC	10	14	{Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3)	.	.	.	18304494|17024313|15640800|11587855|11152695|11152692	.	.	.	.	.	.	.	PM4
L	9	100616694	rs763695737	TGCCGCA	T	221.15	PASS	FOXE1	forkhead box E1	exonic	NM_004473	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.499_504del:p.167_168del	ENST00000375123.3	CpG: 252	9q22.33	.	.	.	.	Score=324;Name="4899795:(CCG)n(Simple_repeat)"	rs763695737	.	.	.	.	.	.	0.0003	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=13;AN=26;DP4=116,104,106,233;DP=748;HOB=0.5;ICB=1;IDV=2;IMF=0.0454545;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,7,9,10,16,17,19,20,21,23,24;SGB=-0.691153;VDB=0.238872	GT:DP:DV:PL	0/1:24:18:255,0,63	0/1:39:18:255,0,220	.	0/1:30:19:255,0,162	.	.	.	0/1:55:31:255,0,223	.	0/1:33:20:255,0,172	0/1:35:21:255,0,182	.	.	.	.	.	0/1:46:27:255,0,203	0/1:33:23:255,0,136	.	0/1:43:28:255,0,156	0/1:39:22:255,0,178	0/1:64:43:255,0,191	.	0/1:59:34:255,0,225	0/1:59:35:255,0,218	TGCCGCAGCCGC	TGCCGC	0	13	Bamforth-Lazarus syndrome, 241850 (3); {Thyroid cancer, nonmedullary, 4}, 616534 (3)	.	.	.	25381600|21177256|19779022|17717707|16882747|15494458|15367491|12165566|9697705|9697704|9520319|9214635|9169137|9052737|8817449|2918525|1307742	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;GLAND_DEVELOPMENT;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	.	.	.	
L	9	100616700	rs758622111	AGCCGCCGCC	A	226.08	PASS	FOXE1	forkhead box E1	exonic	NM_004473	.	nonframeshift deletion	FOXE1:NM_004473:exon1:c.505_513del:p.169_171del	ENST00000375123.3	CpG: 252	9q22.33	.	.	.	.	Score=324;Name="4899795:(CCG)n(Simple_repeat)"	rs758622111	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=48,1;AN=50;DP4=0,4,245,494;DP=1295;HOB=0.5;ICB=1;IDV=23;IMF=0.638889;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692562;VDB=0.0549861	GT:DP:DV:PL	1/1:22:22:255,63,0,.,.,.	1/2:21:21:255,114,57,255,0,255	1/1:44:44:255,129,0,.,.,.	1/1:19:19:255,57,0,.,.,.	0/1:15:12:255,0,21,.,.,.	1/1:45:45:255,129,0,.,.,.	1/1:31:31:255,93,0,.,.,.	1/1:34:34:255,102,0,.,.,.	1/1:23:23:255,69,0,.,.,.	1/1:20:20:255,60,0,.,.,.	1/1:22:22:255,63,0,.,.,.	1/1:22:22:255,66,0,.,.,.	1/1:31:31:255,93,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:47:47:255,141,0,.,.,.	1/1:20:20:255,60,0,.,.,.	1/1:32:32:255,93,0,.,.,.	1/1:26:26:255,78,0,.,.,.	1/1:28:28:255,84,0,.,.,.	1/1:29:29:255,84,0,.,.,.	1/1:26:26:255,75,0,.,.,.	1/1:48:48:255,144,0,.,.,.	1/1:18:18:255,54,0,.,.,.	1/1:38:38:255,114,0,.,.,.	1/1:35:34:255,85,0,.,.,.	AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	AGCCGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCCGCC	23	2	Bamforth-Lazarus syndrome, 241850 (3); {Thyroid cancer, nonmedullary, 4}, 616534 (3)	.	.	.	25381600|21177256|19779022|17717707|16882747|15494458|15367491|12165566|9697705|9697704|9520319|9214635|9169137|9052737|8817449|2918525|1307742	RNA_METABOLIC_PROCESS;SYSTEM_DEVELOPMENT;POSITIVE_REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_RNA_METABOLIC_PROCESS;RNA_BIOSYNTHETIC_PROCESS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;GLAND_DEVELOPMENT;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;ORGAN_DEVELOPMENT;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	.	.	.	PM2
H	9	116764897	.	T	TCG	72.57	PASS	ZNF618	zinc finger protein 618	splicing	NM_133374	NM_133374:exon5:c.416-7->CG	.	.	ENST00000374126.5,ENST00000288466.7	.	9q32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=4;DP4=39,22,47,16;DP=228;HOB=0.5;ICB=1;IDV=2;IMF=0.0155039;MQ0F=0;MQ=60;MQSB=1;SF=14,20;SGB=-0.692717;VDB=0.117381	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:79:23:74,0,255	.	.	.	.	.	0/1:45:40:142,0,34	.	.	.	.	T	TCG	0	2	.	.	.	.		.	.	.	.	.	.	.	PM2
L	9	131020812	rs780605832	CTCCTCA	C	111	PASS	GOLGA2	golgin A2	exonic	NM_004486	.	nonframeshift deletion	GOLGA2:NM_004486:exon21:c.2124_2129del:p.708_710del	ENST00000421699.2,ENST00000609374.1	.	9q34.11	.	.	.	.	Score=309;Name="4963422:(TCC)n(Simple_repeat)"	rs780605832	.	.	.	.	.	.	3.601e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=2,4,4,3;DP=63;HOB=0.5;ICB=1;IDV=3;IMF=0.047619;MQ0F=0;MQ=60;MQSB=0.961166;SF=20;SGB=-0.636426;VDB=0.999363	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:13:7:144,0,139	.	.	.	.	CTCCTCATCCTC	CTCCTC	0	1	Golgi autoantigen, golgin subfamily A, 2	.	.	.	21111240|9628863|8315394	.	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	.	.	PID_PLK1_PATHWAY	.	.	PM2
H	9	139945567	rs369416410	G	GCCC	222	PASS	ENTPD2	ectonucleoside triphosphate diphosphohydrolase 2	exonic	NM_001246,NM_203468	.	nonframeshift insertion	ENTPD2:NM_001246:exon5:c.560_561insGGG:p.G187delinsGG,ENTPD2:NM_203468:exon5:c.560_561insGGG:p.G187delinsGG	ENST00000312665.5,ENST00000355097.2	.	9q34.3	.	.	Score=904;Name=V$CP2_01	.	.	rs369416410	.	.	0.00996678	0.0089	0.00179712	.	0.0004	0.0042	0.00842266434916	0.00961538588942	.	.	.	.	.	.	.	.	.	.	3.499250,17.89	.	AC=1;AN=2;DP4=20,21,23,27;DP=111;HOB=0.5;ICB=1;IDV=56;IMF=0.504505;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.00952132	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:91:50:255,0,255	.	.	.	.	GCCC	GCCCCCC	0	1	Ectonucleoside triphosphate diphosphohydrolase 2	.	.	.	17960245|9271669	.	.	.	KEGG_PURINE_METABOLISM	.	.	.	PM4
H	9	140918169	.	GTGGAGAAGGAGACCA	G	222	PASS	CACNA1B	calcium channel, voltage-dependent, N type, alpha 1B subunit	exonic	NM_000718,NM_001243812	.	nonframeshift deletion	CACNA1B:NM_000718:exon19:c.2975_2989del:p.992_997del,CACNA1B:NM_001243812:exon19:c.2975_2989del:p.992_997del	ENST00000371363.1,ENST00000277551.2,ENST00000371372.1,ENST00000371367.5,ENST00000371357.1,ENST00000371355.4,ENST00000277549.5	.	9q34.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=13,7,9,4;DP=45;HOB=0.5;ICB=1;IDV=2;IMF=0.0444444;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.683931;VDB=0.0331263	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:33:13:255,0,255	.	.	.	.	GTGGAGAAGGAGACCA	G	0	1	?Dystonia 23, 614860 (3)	.	.	.	25296916|21642979|21370267|19004821|12665800|11520183|9030575|8825650|1321501	CELL_CELL_SIGNALING;SYNAPTIC_TRANSMISSION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSMISSION_OF_NERVE_IMPULSE;SYSTEM_PROCESS	MEMBRANE_PART;MEMBRANE;VOLTAGE_GATED_CALCIUM_CHANNEL_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;PROTEIN_C_TERMINUS_BINDING;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM	PM4
L	9	141107536	.	GGCAGCAGCAGCAGCAGCA	G	188.15	PASS	FAM157B	family with sequence similarity 157, member B	exonic	NM_001145249	.	nonframeshift deletion	FAM157B:NM_001145249:exon2:c.219_236del:p.73_79del	ENST00000446912.2	.	9q34.3	.	.	.	Score=0.995706;Name=chr16:90163386	Score=363;Name="4982728:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	-0.293896,2.597	.	AC=2,15,14,1;AN=44;DP4=47,26,126,130;DP=426;HOB=0.5;ICB=1;IDV=8;IMF=0.380952;MQ0F=0;MQ=56;MQSB=1;SF=0,1,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0062294	GT:DP:DV:PL	0/2:17:8:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	2/2:22:22:255,.,.,63,.,0,.,.,.,.,.,.,.,.,.	.	0/4:13:3:64,.,.,.,.,.,.,.,.,.,0,.,.,.,255	2/3:15:15:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	0/2:20:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	3/3:8:8:246,.,.,.,.,.,18,.,.,0,.,.,.,.,.	0/3:7:4:192,.,.,.,.,.,0,.,.,111,.,.,.,.,.	0/2:16:12:255,.,.,0,.,157,.,.,.,.,.,.,.,.,.	3/3:22:21:255,.,.,.,.,.,41,.,.,0,.,.,.,.,.	3/3:14:13:255,.,.,.,.,.,0,.,.,0,.,.,.,.,.	0/2:5:4:188,.,.,0,.,33,.,.,.,.,.,.,.,.,.	2/2:25:25:255,.,.,75,.,0,.,.,.,.,.,.,.,.,.	2/3:20:17:255,.,.,151,.,201,255,.,0,255,.,.,.,.,.	0/2:12:9:255,.,.,0,.,54,.,.,.,.,.,.,.,.,.	1/1:7:7:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:4:4:164,.,.,.,.,.,9,.,.,0,.,.,.,.,.	0/2:15:13:255,.,.,0,.,37,.,.,.,.,.,.,.,.,.	0/2:17:12:255,.,.,0,.,215,.,.,.,.,.,.,.,.,.	0/3:25:21:255,.,.,.,.,.,0,.,.,35,.,.,.,.,.	.	0/3:11:5:164,.,.,.,.,.,0,.,.,237,.,.,.,.,.	0/2:15:4:82,.,.,0,.,255,.,.,.,.,.,.,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	7	15	.	.	.	.		.	.	.	.	.	.	.	
L	9	141107536	rs756752753	GGCA	G	188.15	PASS	FAM157B	family with sequence similarity 157, member B	exonic	NM_001145249	.	nonframeshift deletion	FAM157B:NM_001145249:exon2:c.219_221del:p.73_74del	ENST00000446912.2	.	9q34.3	.	.	.	Score=0.995706;Name=chr16:90163386	Score=363;Name="4982728:(CAG)n(Simple_repeat)"	rs756752753	.	.	.	.	.	0.0108	0.0009	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	-0.359767,2.303	.	AC=2,15,14,1;AN=44;DP4=47,26,126,130;DP=426;HOB=0.5;ICB=1;IDV=8;IMF=0.380952;MQ0F=0;MQ=56;MQSB=1;SF=0,1,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0062294	GT:DP:DV:PL	0/2:17:8:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	2/2:22:22:255,.,.,63,.,0,.,.,.,.,.,.,.,.,.	.	0/4:13:3:64,.,.,.,.,.,.,.,.,.,0,.,.,.,255	2/3:15:15:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	0/2:20:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	3/3:8:8:246,.,.,.,.,.,18,.,.,0,.,.,.,.,.	0/3:7:4:192,.,.,.,.,.,0,.,.,111,.,.,.,.,.	0/2:16:12:255,.,.,0,.,157,.,.,.,.,.,.,.,.,.	3/3:22:21:255,.,.,.,.,.,41,.,.,0,.,.,.,.,.	3/3:14:13:255,.,.,.,.,.,0,.,.,0,.,.,.,.,.	0/2:5:4:188,.,.,0,.,33,.,.,.,.,.,.,.,.,.	2/2:25:25:255,.,.,75,.,0,.,.,.,.,.,.,.,.,.	2/3:20:17:255,.,.,151,.,201,255,.,0,255,.,.,.,.,.	0/2:12:9:255,.,.,0,.,54,.,.,.,.,.,.,.,.,.	1/1:7:7:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:4:4:164,.,.,.,.,.,9,.,.,0,.,.,.,.,.	0/2:15:13:255,.,.,0,.,37,.,.,.,.,.,.,.,.,.	0/2:17:12:255,.,.,0,.,215,.,.,.,.,.,.,.,.,.	0/3:25:21:255,.,.,.,.,.,0,.,.,35,.,.,.,.,.	.	0/3:11:5:164,.,.,.,.,.,0,.,.,237,.,.,.,.,.	0/2:15:4:82,.,.,0,.,255,.,.,.,.,.,.,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	7	15	.	.	.	.		.	.	.	.	.	.	.	
L	10	21805466	rs112207161	C	CCCT	220	PASS	SKIDA1	SKI/DACH domain containing 1	exonic	NM_207371	.	nonframeshift insertion	SKIDA1:NM_207371:exon4:c.1285_1286insAGG:p.G429delinsEG	ENST00000449193.2,ENST00000444772.3	.	10p12.31	.	.	.	.	Score=390;Name="471257:(TCC)n(Simple_repeat)"	rs112207161	.	.	.	.	.	0.0091	0.0087	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	1.056005,9.313	.	AC=21,1;AN=34;DP4=131,108,195,245;DP=881;HOB=0.5;ICB=1;IDV=12;IMF=0.24;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,5,7,8,9,10,11,14,15,16,18,20,21,23,24;SGB=-0.688148;VDB=0.516176	GT:DP:DV:PL	0/1:35:15:255,0,255,.,.,.	0/1:45:23:255,0,255,.,.,.	1/1:37:37:255,127,27,.,.,.	.	.	1/2:51:51:255,254,125,255,0,255	.	0/1:41:20:255,0,255,.,.,.	1/1:36:36:255,99,0,.,.,.	0/1:35:22:255,0,255,.,.,.	1/1:37:37:255,111,0,.,.,.	0/1:40:18:255,0,255,.,.,.	.	.	1/1:33:33:255,99,0,.,.,.	0/1:40:20:255,0,255,.,.,.	0/1:51:21:255,0,255,.,.,.	.	0/1:27:14:255,0,255,.,.,.	.	0/1:37:18:255,0,255,.,.,.	0/1:48:25:255,0,255,.,.,.	.	0/1:49:29:255,0,255,.,.,.	0/1:37:21:255,0,255,.,.,.	CCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTC,CCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTC	4	13	.	.	.	.		.	.	.	.	.	.	.	
H	10	125780752	.	C	CGGGG	51	PASS	CHST15	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	exonic	NM_001270765,NM_014863	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1366_1367insCCCC:p.R456fs,CHST15:NM_014863:exon6:c.1366_1367insCCCC:p.R456fs	ENST00000421115.1,ENST00000346248.5,ENST00000435907.1	.	10q26.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0227273	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=2;DP4=0,0,8,0;DP=19;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;SF=20;SGB=-0.651104;VDB=0.174458	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:8:8:111,52,43,72,0,63	.	.	.	.	CGGGGGGGGGGGG	CGGGGGGGGGGGGGGGG,CGGGGGGGGGGGGGGG	0	1	Carbohydrate sulfotransferase 15	.	.	.	11572857|11032940|10749872|9754571|9628581	BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	.	NUCLEOTIDE_BINDING;SULFOTRANSFERASE_ACTIVITY;PURINE_NUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	PM2
H	10	125780752	.	C	CGGG	51	PASS	CHST15	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	exonic	NM_001270765,NM_014863	.	nonframeshift insertion	CHST15:NM_001270765:exon6:c.1366_1367insCCC:p.R456delinsPR,CHST15:NM_014863:exon6:c.1366_1367insCCC:p.R456delinsPR	ENST00000421115.1,ENST00000346248.5,ENST00000435907.1	.	10q26.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00142045	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=2;DP4=0,0,8,0;DP=19;IDV=11;IMF=0.578947;MQ0F=0;MQ=60;SF=20;SGB=-0.651104;VDB=0.174458	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:8:8:111,52,43,72,0,63	.	.	.	.	CGGGGGGGGGGGG	CGGGGGGGGGGGGGGGG,CGGGGGGGGGGGGGGG	0	1	Carbohydrate sulfotransferase 15	.	.	.	11572857|11032940|10749872|9754571|9628581	BIOSYNTHETIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CARBOHYDRATE_BIOSYNTHETIC_PROCESS	.	NUCLEOTIDE_BINDING;SULFOTRANSFERASE_ACTIVITY;PURINE_NUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_SULFUR_CONTAINING_GROUPS	KEGG_GLYCOSAMINOGLYCAN_BIOSYNTHESIS_CHONDROITIN_SULFATE	.	.	REACTOME_CHONDROITIN_SULFATE_BIOSYNTHESIS;REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM;REACTOME_GLYCOSAMINOGLYCAN_METABOLISM;REACTOME_METABOLISM_OF_CARBOHYDRATES	PM2,PM4
H	11	209893	rs201633036	AACC	A	228	PASS	RIC8A	RIC8 guanine nucleotide exchange factor A	exonic	NM_001286134,NM_021932	.	nonframeshift deletion	RIC8A:NM_001286134:exon3:c.620_622del:p.207_208del,RIC8A:NM_021932:exon3:c.620_622del:p.207_208del	ENST00000325207.5,ENST00000526104.1,ENST00000527696.1	.	11p15.5	.	.	.	.	.	rs201633036	.	.	.	.	.	.	.	.	0.00568182	0.00434783	.	.	.	.	.	.	.	.	.	.	1.049558,9.287	.	AC=2;AN=2;DP4=1,0,24,20;DP=60;IDV=2;IMF=0.0333333;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693146;VDB=0.0126318	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:45:44:255,103,0	.	.	.	.	AACC	A	1	0	Ric8, C. elegans, homolog of, A	.	.	.	15479639|12509430	.	.	.	.	.	.	.	PM4
L	11	1651199	rs71025763	A	AGGCTGTGGCTCC	134.85	PASS	KRTAP5-5	keratin associated protein 5-5	exonic	NM_001001480	.	nonframeshift insertion	KRTAP5-5:NM_001001480:exon1:c.129_130insGGCTGTGGCTCC:p.G43delinsGGCGS	ENST00000399676.2	.	11p15.5	.	.	.	.	Score=217;Name="672737:(CTGGGG)n(Simple_repeat)"	rs71025763	.	.	.	.	.	.	0.0065	0.0009	.	0.0826087	.	.	.	.	.	.	.	.	.	.	-1.286068,0.041	.	AC=12,3;AN=26;DP4=169,81,56,27;DP=598;HOB=0.5;ICB=1;IDV=7;IMF=0.127273;MQ0F=0;MQ=54;MQSB=0.763675;SF=0,3,4,5,8,9,11,13,14,19,20,22,23;SGB=-0.636426;VDB=0.928696	GT:DP:DV:PL	1/2:11:7:231,75,143,88,0,157	.	.	0/1:30:5:155,0,255,.,.,.	0/1:24:3:99,0,255,.,.,.	0/1:18:10:236,0,128,.,.,.	.	.	0/1:25:4:134,0,255,.,.,.	2/1:9:8:255,215,211,69,0,61	.	0/1:29:6:.,.,255,.,0,218	.	0/1:36:7:174,0,255,.,.,.	0/1:31:6:86,0,255,.,.,.	.	.	.	.	0/1:22:9:255,0,255,.,.,.	0/1:32:5:141,0,255,.,.,.	.	0/2:16:3:74,.,.,0,.,255	0/1:50:10:204,0,255,.,.,.	.	AGGCTGTGGGGGCTGTGG	AGGCTGTGGCTCCGGCTGTGGGGGCTGTGG,AGGCTGTGG	0	13	.	.	.	.		.	.	.	.	.	.	.	
L	11	1651199	rs772317309	AGGCTGTGGG	A	134.85	PASS	KRTAP5-5	keratin associated protein 5-5	exonic	NM_001001480	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.130_138del:p.44_46del	ENST00000399676.2	.	11p15.5	.	.	.	.	Score=217;Name="672737:(CTGGGG)n(Simple_repeat)"	rs772317309	.	.	.	.	.	.	0.0003	0	.	0.00434783	.	.	.	.	.	.	.	.	.	.	-0.184566,3.102	.	AC=12,3;AN=26;DP4=169,81,56,27;DP=598;HOB=0.5;ICB=1;IDV=7;IMF=0.127273;MQ0F=0;MQ=54;MQSB=0.763675;SF=0,3,4,5,8,9,11,13,14,19,20,22,23;SGB=-0.636426;VDB=0.928696	GT:DP:DV:PL	1/2:11:7:231,75,143,88,0,157	.	.	0/1:30:5:155,0,255,.,.,.	0/1:24:3:99,0,255,.,.,.	0/1:18:10:236,0,128,.,.,.	.	.	0/1:25:4:134,0,255,.,.,.	2/1:9:8:255,215,211,69,0,61	.	0/1:29:6:.,.,255,.,0,218	.	0/1:36:7:174,0,255,.,.,.	0/1:31:6:86,0,255,.,.,.	.	.	.	.	0/1:22:9:255,0,255,.,.,.	0/1:32:5:141,0,255,.,.,.	.	0/2:16:3:74,.,.,0,.,255	0/1:50:10:204,0,255,.,.,.	.	AGGCTGTGGGGGCTGTGG	AGGCTGTGGCTCCGGCTGTGGGGGCTGTGG,AGGCTGTGG	0	13	.	.	.	.		.	.	.	.	.	.	.	
H	11	3661586	.	T	TGGC	228	PASS	ART5	ADP-ribosyltransferase 5	exonic	NM_001079536,NM_001297668,NM_053017	.	nonframeshift insertion	ART5:NM_001297668:exon2:c.72_73insGCC:p.I25delinsAI,ART5:NM_053017:exon2:c.72_73insGCC:p.I25delinsAI,ART5:NM_001079536:exon3:c.72_73insGCC:p.I25delinsAI	ENST00000397068.3,ENST00000359918.4,ENST00000397067.3	.	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113636	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2,2,2;AN=6;DP4=0,3,110,124;DP=351;IDV=2;IMF=0.0188679;MQ0F=0;MQ=60;MQSB=1;SF=8,19,20;SGB=-0.693147;VDB=1.43044e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	3/3:74:74:.,.,.,.,.,.,.,.,.,0	.	.	.	.	.	.	.	.	.	.	1/1:78:77:255,203,0,.,.,.,.,.,.,.	2/2:85:83:.,.,.,.,.,0,.,.,.,.	.	.	.	.	TGGG	TGGGGGG,TGGCGGG,TGGAGGG	3	0	ADP-ribosyltransferase 5	.	.	.	12070318|11587854	.	.	.	.	.	.	.	PM2,PM4
H	11	3661586	.	T	TGGA	228	PASS	ART5	ADP-ribosyltransferase 5	exonic	NM_001079536,NM_001297668,NM_053017	.	nonframeshift insertion	ART5:NM_001297668:exon2:c.72_73insTCC:p.I25delinsSI,ART5:NM_053017:exon2:c.72_73insTCC:p.I25delinsSI,ART5:NM_001079536:exon3:c.72_73insTCC:p.I25delinsSI	ENST00000397068.3,ENST00000359918.4,ENST00000397067.3	.	11p15.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00568182	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2,2,2;AN=6;DP4=0,3,110,124;DP=351;IDV=2;IMF=0.0188679;MQ0F=0;MQ=60;MQSB=1;SF=8,19,20;SGB=-0.693147;VDB=1.43044e-05	GT:DP:DV:PL	.	.	.	.	.	.	.	.	3/3:74:74:.,.,.,.,.,.,.,.,.,0	.	.	.	.	.	.	.	.	.	.	1/1:78:77:255,203,0,.,.,.,.,.,.,.	2/2:85:83:.,.,.,.,.,0,.,.,.,.	.	.	.	.	TGGG	TGGGGGG,TGGCGGG,TGGAGGG	3	0	ADP-ribosyltransferase 5	.	.	.	12070318|11587854	.	.	.	.	.	.	.	PM2,PM4
L	11	9113008	rs770518755	GGCAGCA	G	191.75	PASS	SCUBE2	signal peptide, CUB domain, EGF-like 2	exonic	NM_001170690,NM_020974	.	nonframeshift deletion	SCUBE2:NM_001170690:exon1:c.62_67del:p.21_23del,SCUBE2:NM_020974:exon1:c.62_67del:p.21_23del	ENST00000457346.2,ENST00000450649.2,ENST00000309263.3,ENST00000534295.1,ENST00000520467.1	CpG: 105	11p15.4	.	.	.	.	Score=306;Name="684824:(CAG)n(Simple_repeat)"	rs770518755	.	.	.	.	.	.	0.0004	0	.	.	.	.	.	.	.	.	.	.	.	.	-1.207317,0.069	.	AC=22,1;AN=32;DP4=38,47,66,95;DP=328;HOB=0.5;ICB=1;IDV=6;IMF=0.352941;MQ0F=0;MQ=60;MQSB=0.95494;SF=1,2,3,5,6,7,12,13,14,15,17,18,20,21,23,24;SGB=-0.636426;VDB=0.437632	GT:DP:DV:PL	.	0/1:12:7:212,0,160,.,.,.	0/1:18:10:255,0,255,.,.,.	1/1:8:8:225,24,0,.,.,.	.	0/1:34:15:255,0,255,.,.,.	0/1:18:9:255,0,255,.,.,.	1/2:6:6:242,57,42,193,0,190	.	.	.	.	1/1:3:3:111,9,0,.,.,.	0/1:12:5:123,0,255,.,.,.	1/1:19:19:255,57,3,.,.,.	1/1:9:9:255,27,0,.,.,.	.	0/1:6:3:132,0,132,.,.,.	1/1:7:7:255,21,0,.,.,.	.	1/1:13:13:255,39,0,.,.,.	0/1:27:12:255,0,255,.,.,.	.	0/1:37:23:255,0,255,.,.,.	0/1:17:12:255,0,200,.,.,.	GGCAGCAGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCAGCAGCA,GGCAGCAGCAGCAGCAGCA	6	10	Signal peptide-, CUB domain-, and EGF-like domains-containing protein 2	.	.	.	21652720|12270931	.	.	.	.	.	.	.	PM2
H	11	12316344	rs767104379	G	GCTCCTC	185	PASS	MICALCL	MICAL C-terminal like	exonic	NM_032867	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1366_1367insCTCCTC:p.A456delinsAPP	ENST00000256186.2	.	11p15.3	.	.	.	.	.	rs767104379	.	.	.	.	.	.	0.0031	0.0010	.	0.126087	.	.	.	.	.	.	.	.	.	.	1.914186,12.36	.	AC=7,21,4,5,1;AN=48;DP4=20,74,51,227;DP=995;HOB=0.5;ICB=1;IDV=13;IMF=0.325;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.02225	GT:DP:DV:PL	2/3:14:13:255,.,.,174,.,207,207,.,0,242,.,.,.,.,.,.,.,.,.,.,.	2/1:17:16:255,255,255,124,0,139,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:10:4:149,.,.,0,.,160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:17:15:255,70,96,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:15:7:152,.,.,.,.,.,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.	2/1:15:14:255,195,201,182,0,181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:11:255,.,.,0,.,120,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:12:12:255,.,.,.,.,.,255,.,.,255,105,.,.,0,77,.,.,.,.,.,.	4/1:12:12:255,255,255,.,.,.,.,.,.,.,173,0,.,.,152,.,.,.,.,.,.	2/3:13:13:255,.,.,142,.,112,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	2/1:9:8:228,180,182,45,0,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,119,95,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:178,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:7:154,.,.,27,.,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:11:255,.,.,0,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:13:255,.,.,0,.,65,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/2:17:17:255,.,.,255,.,255,.,.,.,.,151,.,0,.,112,.,.,.,.,.,.	0/2:19:8:166,.,.,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:14:14:255,.,.,255,.,255,.,.,.,.,193,.,0,.,172,.,.,.,.,.,.	2/2:22:21:255,.,.,46,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:10:10:255,152,134,226,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:8:255,.,.,0,.,141,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:15:15:255,.,.,.,.,.,.,.,.,.,120,.,.,.,87,255,.,.,.,0,255	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	1	23	MICAL C terminus-like protein	.	.	.	18241670	.	.	.	.	.	.	.	PM4
H	11	12316344	.	G	GCTCCTCCTC	185	PASS	MICALCL	MICAL C-terminal like	exonic	NM_032867	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1366_1367insCTCCTCCTC:p.A456delinsAPPP	ENST00000256186.2	.	11p15.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=7,21,4,5,1;AN=48;DP4=20,74,51,227;DP=995;HOB=0.5;ICB=1;IDV=13;IMF=0.325;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.02225	GT:DP:DV:PL	2/3:14:13:255,.,.,174,.,207,207,.,0,242,.,.,.,.,.,.,.,.,.,.,.	2/1:17:16:255,255,255,124,0,139,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:10:4:149,.,.,0,.,160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:17:15:255,70,96,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:15:7:152,.,.,.,.,.,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.	2/1:15:14:255,195,201,182,0,181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:11:255,.,.,0,.,120,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:12:12:255,.,.,.,.,.,255,.,.,255,105,.,.,0,77,.,.,.,.,.,.	4/1:12:12:255,255,255,.,.,.,.,.,.,.,173,0,.,.,152,.,.,.,.,.,.	2/3:13:13:255,.,.,142,.,112,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	2/1:9:8:228,180,182,45,0,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,119,95,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:178,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:7:154,.,.,27,.,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:11:255,.,.,0,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:13:255,.,.,0,.,65,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/2:17:17:255,.,.,255,.,255,.,.,.,.,151,.,0,.,112,.,.,.,.,.,.	0/2:19:8:166,.,.,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:14:14:255,.,.,255,.,255,.,.,.,.,193,.,0,.,172,.,.,.,.,.,.	2/2:22:21:255,.,.,46,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:10:10:255,152,134,226,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:8:255,.,.,0,.,141,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:15:15:255,.,.,.,.,.,.,.,.,.,120,.,.,.,87,255,.,.,.,0,255	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	1	23	MICAL C terminus-like protein	.	.	.	18241670	.	.	.	.	.	.	.	PM4
L	11	12316344	rs3841216	GCTCCTC	G	185	PASS	MICALCL	MICAL C-terminal like	exonic	NM_032867	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1372del:p.456_458del	ENST00000256186.2	.	11p15.3	.	.	.	.	Score=396;Name="691335:(TCC)n(Simple_repeat)"	rs3841216	.	.	.	.	.	.	0.0052	0.0138	.	0.134783	.	.	.	.	.	.	.	.	.	.	1.881251,12.25	.	AC=7,21,4,5,1;AN=48;DP4=20,74,51,227;DP=995;HOB=0.5;ICB=1;IDV=13;IMF=0.325;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.02225	GT:DP:DV:PL	2/3:14:13:255,.,.,174,.,207,207,.,0,242,.,.,.,.,.,.,.,.,.,.,.	2/1:17:16:255,255,255,124,0,139,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:10:4:149,.,.,0,.,160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:17:15:255,70,96,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:15:7:152,.,.,.,.,.,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.	2/1:15:14:255,195,201,182,0,181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:11:255,.,.,0,.,120,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:12:12:255,.,.,.,.,.,255,.,.,255,105,.,.,0,77,.,.,.,.,.,.	4/1:12:12:255,255,255,.,.,.,.,.,.,.,173,0,.,.,152,.,.,.,.,.,.	2/3:13:13:255,.,.,142,.,112,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	2/1:9:8:228,180,182,45,0,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,119,95,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:178,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:7:154,.,.,27,.,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:11:255,.,.,0,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:13:255,.,.,0,.,65,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/2:17:17:255,.,.,255,.,255,.,.,.,.,151,.,0,.,112,.,.,.,.,.,.	0/2:19:8:166,.,.,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:14:14:255,.,.,255,.,255,.,.,.,.,193,.,0,.,172,.,.,.,.,.,.	2/2:22:21:255,.,.,46,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:10:10:255,152,134,226,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:8:255,.,.,0,.,141,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:15:15:255,.,.,.,.,.,.,.,.,.,120,.,.,.,87,255,.,.,.,0,255	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	1	23	MICAL C terminus-like protein	.	.	.	18241670	.	.	.	.	.	.	.	
H	11	12316344	.	G	GCTCCTCCTCCTC	185	PASS	MICALCL	MICAL C-terminal like	exonic	NM_032867	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1366_1367insCTCCTCCTCCTC:p.A456delinsAPPPP	ENST00000256186.2	.	11p15.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	.	.	AC=7,21,4,5,1;AN=48;DP4=20,74,51,227;DP=995;HOB=0.5;ICB=1;IDV=13;IMF=0.325;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,24;SGB=-0.683931;VDB=0.02225	GT:DP:DV:PL	2/3:14:13:255,.,.,174,.,207,207,.,0,242,.,.,.,.,.,.,.,.,.,.,.	2/1:17:16:255,255,255,124,0,139,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:11:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:10:4:149,.,.,0,.,160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:17:15:255,70,96,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:15:7:152,.,.,.,.,.,0,.,.,231,.,.,.,.,.,.,.,.,.,.,.	2/1:15:14:255,195,201,182,0,181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:11:255,.,.,0,.,120,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:12:12:255,.,.,.,.,.,255,.,.,255,105,.,.,0,77,.,.,.,.,.,.	4/1:12:12:255,255,255,.,.,.,.,.,.,.,173,0,.,.,152,.,.,.,.,.,.	2/3:13:13:255,.,.,142,.,112,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	2/1:9:8:228,180,182,45,0,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,119,95,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:16:7:178,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:8:7:154,.,.,27,.,41,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:11:255,.,.,0,.,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:13:255,.,.,0,.,65,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/2:17:17:255,.,.,255,.,255,.,.,.,.,151,.,0,.,112,.,.,.,.,.,.	0/2:19:8:166,.,.,0,.,185,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:14:14:255,.,.,255,.,255,.,.,.,.,193,.,0,.,172,.,.,.,.,.,.	2/2:22:21:255,.,.,46,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:10:10:255,152,134,226,0,214,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:18:8:255,.,.,0,.,141,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/5:15:15:255,.,.,.,.,.,.,.,.,.,120,.,.,.,87,255,.,.,.,0,255	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT,GCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	1	23	MICAL C terminus-like protein	.	.	.	18241670	.	.	.	.	.	.	.	PM4
H	11	18127530	rs3830499	A	ACCT	216.17	PASS	SAAL1	serum amyloid A-like 1	exonic	NM_138421	.	nonframeshift insertion	SAAL1:NM_138421:exon1:c.58_59insAGG:p.V20delinsEV	ENST00000524803.1,ENST00000300013.4,ENST00000529318.1,ENST00000533851.1	CpG: 45	11p15.1	.	.	.	.	.	rs3830499	.	.	.	.	.	.	0.0011	0.0085	0.00142045	0.00869565	.	.	.	.	.	.	.	.	.	.	2.459115,14.18	.	AC=6,1;AN=12;DP4=32,32,59,77;DP=290;HOB=0.5;ICB=1;IDV=19;IMF=0.422222;MQ0F=0;MQ=60;MQSB=1;SF=0,8,10,16,17,20;SGB=-0.692562;VDB=0.000472718	GT:DP:DV:PL	0/1:35:22:255,0,255,.,.,.	.	.	.	.	.	.	.	0/1:24:12:255,0,255,.,.,.	.	0/1:41:20:255,0,255,.,.,.	.	.	.	.	.	0/1:23:18:255,0,122,.,.,.	0/1:37:24:255,0,255,.,.,.	.	.	1/2:40:40:255,157,46,255,0,255	.	.	.	.	ACCTCCTCCTCCTCCTCCT	ACCTCCTCCTCCTCCTCCTCCTCCT,ACCTCCTCCTCCTCCTCCTCCT	0	6	.	.	.	.		.	.	.	.	.	.	.	PM4
H	11	71710425	rs373342292	CTCA	C	222	PASS	IL18BP	interleukin 18 binding protein	splicing	NM_001039659	.	.	.	ENST00000497194.2,ENST00000525932.1,ENST00000393705.4,ENST00000393703.4,ENST00000404792.1,ENST00000337131.5,ENST00000531053.1	.	11q13.4	.	.	.	.	.	rs373342292	.	.	0.0215947	0.0198	0.00459265	.	.	.	.	0.0204327024038	.	.	.	.	.	.	.	.	.	.	0.482080,6.616	.	AC=1;AN=2;DP4=8,6,3,9;DP=35;HOB=0.5;ICB=1;IDV=13;IMF=0.371429;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.680642;VDB=0.00683823	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:26:12:255,0,255	.	.	.	.	CTCATC	CTC	0	1	Interleukin 18-binding protein	.	.	.	11907126|11729116|10094485|10023777	ADAPTIVE_IMMUNE_RESPONSE_GO_0002460;IMMUNE_RESPONSE;ADAPTIVE_IMMUNE_RESPONSE;IMMUNE_SYSTEM_PROCESS	EXTRACELLULAR_REGION	INTERLEUKIN_BINDING;RECEPTOR_BINDING;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;CYTOKINE_BINDING	.	.	.	.	
H	11	130066458	rs761882105	C	CG	58	PASS	ST14	suppression of tumorigenicity 14 (colon carcinoma)	splicing	NM_021978	NM_021978:exon11:c.1224-7->G	.	.	ENST00000278742.5	.	11q24.3	.	.	.	.	.	rs761882105	.	.	.	.	.	.	4.148e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=3,3,21,12;DP=108;IDV=47;IMF=0.435185;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693127;VDB=0.916421	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:39:33:86,33,0	.	.	.	.	C	CG	1	0	Ichthyosis, congenital, autosomal recessive 11, 602400 (3)	.	.	.	21097670|20657595|19389929|18843291|18445049|17273967|16838070|14638864|12207612|12032844|11696548|11290548|10500122|10373424|9925927|9450882|9083044	PROTEOLYSIS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	PM2
H	12	6666243	rs557643802	C	CA	222	PASS	NOP2	NOP2 nucleolar protein	exonic	NM_001033714,NM_001258308,NM_001258309,NM_006170	.	frameshift insertion	NOP2:NM_001033714:exon16:c.2342dupT:p.V781fs,NOP2:NM_001258308:exon16:c.2354dupT:p.V785fs,NOP2:NM_006170:exon16:c.2342dupT:p.V781fs,NOP2:NM_001258309:exon17:c.2453dupT:p.V818fs	ENST00000537442.1,ENST00000545200.1,ENST00000541778.1,ENST00000322166.5,ENST00000399466.2,ENST00000382421.3	.	12p13.31	.	.	.	.	.	rs557643802	.	.	0.00332226	0.002	0.00379393	.	0.0021	0.0065	0.0030627880245	0.0036057709375	.	.	.	.	.	.	.	.	.	.	3.532645,18.03	.	AC=1;AN=2;DP4=21,14,16,17;DP=87;HOB=0.5;ICB=1;IDV=41;IMF=0.471264;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693127;VDB=0.332696	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:68:33:255,0,255	.	.	.	.	CA	CAA	0	1	Nucleolar protein 1, 120kD	.	.	.	8419402|8088812|3422591|1728415|1394192	POSITIVE_REGULATION_OF_CELL_PROLIFERATION;CELL_PROLIFERATION_GO_0008283;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_CELL_PROLIFERATION	ORGANELLE_PART;NUCLEAR_PART;ORGANELLE_LUMEN;NUCLEAR_LUMEN;NON_MEMBRANE_BOUND_ORGANELLE;NUCLEUS;MEMBRANE_ENCLOSED_LUMEN;INTRACELLULAR_NON_MEMBRANE_BOUND_ORGANELLE;INTRACELLULAR_ORGANELLE_PART;NUCLEOLUS	.	.	.	.	.	
L	12	6777069	.	T	TTGCTGCTGCTGCTGCTGC	210.04	PASS	ZNF384	zinc finger protein 384	exonic	NM_001039920,NM_001135734,NM_133476	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1196_1197insGCAGCAGCAGCAGCAGCA:p.Q399delinsQQQQQQQ,ZNF384:NM_133476:exon10:c.1361_1362insGCAGCAGCAGCAGCAGCA:p.Q454delinsQQQQQQQ,ZNF384:NM_001135734:exon11:c.1544_1545insGCAGCAGCAGCAGCAGCA:p.Q515delinsQQQQQQQ	ENST00000589924.1,ENST00000361959.3,ENST00000319770.3,ENST00000355772.4,ENST00000396799.2,ENST00000396801.3,ENST00000396795.1	.	12p13.31	.	.	.	.	Score=420;Name="922854:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=32,8,1;AN=48;DP4=35,62,245,390;DP=1376;HOB=0.5;ICB=1;IDV=28;IMF=0.538462;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24;SGB=-0.693054;VDB=0.00933253	GT:DP:DV:PL	1/2:28:28:255,156,81,255,0,255,.,.,.,.	0/1:31:24:255,0,183,.,.,.,.,.,.,.	1/1:39:38:255,55,0,.,.,.,.,.,.,.	0/1:30:17:255,0,255,.,.,.,.,.,.,.	1/2:25:25:255,204,141,255,0,255,.,.,.,.	1/1:42:42:255,120,0,.,.,.,.,.,.,.	0/1:28:13:255,0,255,.,.,.,.,.,.,.	1/1:33:33:255,106,13,.,.,.,.,.,.,.	1/1:30:30:255,106,22,.,.,.,.,.,.,.	1/1:13:13:255,39,0,.,.,.,.,.,.,.	0/1:30:15:251,0,255,.,.,.,.,.,.,.	0/1:35:20:255,0,255,.,.,.,.,.,.,.	1/2:20:20:255,97,43,255,0,255,.,.,.,.	1/3:22:22:255,179,134,.,.,.,255,0,.,255	1/1:36:36:255,106,4,.,.,.,.,.,.,.	1/2:25:25:255,153,87,255,0,255,.,.,.,.	1/2:37:37:255,215,118,255,0,255,.,.,.,.	1/2:21:21:255,106,49,255,0,255,.,.,.,.	.	0/1:34:22:255,0,255,.,.,.,.,.,.,.	1/2:35:35:255,163,67,255,0,255,.,.,.,.	1/1:49:49:255,163,25,.,.,.,.,.,.,.	1/2:15:15:255,230,200,255,0,255,.,.,.,.	0/1:45:26:255,0,255,.,.,.,.,.,.,.	1/1:29:29:255,87,0,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	8	16	Zinc finger protein 384	.	.	.	15781586|12023967|11856889|11149472|10669742|9225980	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT	.	.	.	.	.	.	PM2
L	12	7045891	rs782630098	A	ACAGCAGCAG	208.13	PASS	ATN1	atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAGCAG:p.Q487delinsQQQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAGCAG:p.Q487delinsQQQQ	ENST00000356654.4,ENST00000396684.2	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	rs782630098	.	.	0.00664452	0.0169	0.0109824	.	.	.	0.00664452	0.0372595325	.	.	.	.	.	.	.	.	.	.	-1.047279,0.198	.	AC=3,11,8,5,2,3,2,2,1;AN=46;DP4=170,68,735,446;DP=2187;HOB=0.5;ICB=1;IDV=26;IMF=0.412698;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.69312;VDB=3.7824e-06	GT:DP:DV:PL	0/1:44:32:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	9/3:51:51:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,.,.,255	.	0/2:63:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:43:24:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:124:123:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:45:23:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:39:39:255,.,.,114,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/4:45:43:255,.,.,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.	2/4:37:37:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/8:51:51:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.	6/3:41:41:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:50:50:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:96:96:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:67:40:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:25:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:48:47:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:43:22:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:46:29:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:63:63:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:61:60:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:121:119:255,.,.,255,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:122:73:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:75:74:255,.,.,.,.,.,255,.,.,161,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	2	21	Dentatorubro-pallidoluysian atrophy, 125370 (3)	.	.	.	19039037|16713569|14512972|12812981|12165555|11792320|9949204|9887337|9647693|9070948|8929958|8786114|8644735|8638101|8612237|8612215|8541849|8325628|8136840|8136826|8005597|7996992|7981699|7951323|7868125|7824105|7647802|7485154|7477999	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASM;NUCLEUS	.	.	.	.	.	
L	12	7045891	rs377147612	ACAGCAGCAGCAGCAG	A	208.13	PASS	ATN1	atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1476del:p.488_492del,ATN1:NM_001940:exon5:c.1462_1476del:p.488_492del	ENST00000356654.4,ENST00000396684.2	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	rs377147612	.	.	.	.	.	.	.	.	.	0.143478	.	.	.	.	.	.	.	.	.	.	0.029133,4.165	.	AC=3,11,8,5,2,3,2,2,1;AN=46;DP4=170,68,735,446;DP=2187;HOB=0.5;ICB=1;IDV=26;IMF=0.412698;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.69312;VDB=3.7824e-06	GT:DP:DV:PL	0/1:44:32:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	9/3:51:51:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,.,.,255	.	0/2:63:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:43:24:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:124:123:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:45:23:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:39:39:255,.,.,114,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/4:45:43:255,.,.,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.	2/4:37:37:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/8:51:51:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.	6/3:41:41:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:50:50:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:96:96:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:67:40:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:25:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:48:47:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:43:22:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:46:29:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:63:63:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:61:60:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:121:119:255,.,.,255,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:122:73:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:75:74:255,.,.,.,.,.,255,.,.,161,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	2	21	Dentatorubro-pallidoluysian atrophy, 125370 (3)	.	.	.	19039037|16713569|14512972|12812981|12165555|11792320|9949204|9887337|9647693|9070948|8929958|8786114|8644735|8638101|8612237|8612215|8541849|8325628|8136840|8136826|8005597|7996992|7981699|7951323|7868125|7824105|7647802|7485154|7477999	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASM;NUCLEUS	.	.	.	.	.	
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L	12	7045891	rs60216939	ACAGCAGCAG	A	208.13	PASS	ATN1	atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1470del:p.488_490del,ATN1:NM_001940:exon5:c.1462_1470del:p.488_490del	ENST00000356654.4,ENST00000396684.2	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	rs60216939	.	.	.	.	.	.	.	.	.	0.0304348	.	.	.	.	.	.	.	.	.	.	0.029133,4.165	.	AC=3,11,8,5,2,3,2,2,1;AN=46;DP4=170,68,735,446;DP=2187;HOB=0.5;ICB=1;IDV=26;IMF=0.412698;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,23,24;SGB=-0.69312;VDB=3.7824e-06	GT:DP:DV:PL	0/1:44:32:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	9/3:51:51:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,.,.,255	.	0/2:63:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:43:24:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/3:124:123:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:45:23:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:39:39:255,.,.,114,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/4:45:43:255,.,.,.,.,.,.,.,.,.,255,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.	2/4:37:37:255,.,.,255,.,255,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/8:51:51:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.	6/3:41:41:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,.,.,.,.,.,.,255,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:50:50:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:96:96:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/7:67:40:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:25:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:48:47:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:43:22:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:46:29:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:63:63:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:61:60:255,.,.,.,.,.,255,.,.,255,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:121:119:255,.,.,255,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:122:73:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:75:74:255,.,.,.,.,.,255,.,.,161,255,.,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	2	21	Dentatorubro-pallidoluysian atrophy, 125370 (3)	.	.	.	19039037|16713569|14512972|12812981|12165555|11792320|9949204|9887337|9647693|9070948|8929958|8786114|8644735|8638101|8612237|8612215|8541849|8325628|8136840|8136826|8005597|7996992|7981699|7951323|7868125|7824105|7647802|7485154|7477999	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASM;NUCLEUS	.	.	.	.	.	
L	12	7045914	.	A	AGCC	148	PASS	ATN1	atrophin 1	exonic	NM_001007026,NM_001940	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1484_1485insGCC:p.Q495delinsQP,ATN1:NM_001940:exon5:c.1484_1485insGCC:p.Q495delinsQP	ENST00000356654.4,ENST00000396684.2	.	12p13.31	.	.	.	.	Score=489;Name="923424:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=26,11,17,2;DP=103;HOB=0.5;ICB=1;IDV=2;IMF=0.0194175;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.69168;VDB=0.999796	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:19:181,0,255	.	.	.	.	AGC	AGCCGC	0	1	Dentatorubro-pallidoluysian atrophy, 125370 (3)	.	.	.	19039037|16713569|14512972|12812981|12165555|11792320|9949204|9887337|9647693|9070948|8929958|8786114|8644735|8638101|8612237|8612215|8541849|8325628|8136840|8136826|8005597|7996992|7981699|7951323|7868125|7824105|7647802|7485154|7477999	SYSTEM_DEVELOPMENT;NERVOUS_SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;CENTRAL_NERVOUS_SYSTEM_DEVELOPMENT	CYTOPLASM;NUCLEUS	.	.	.	.	.	PM2
L	12	103352171	rs3832799	C	CGCAGCA	121.3	PASS	ASCL1	achaete-scute family bHLH transcription factor 1	exonic	NM_004316	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.149_150insGCAGCA:p.A50delinsAQQ	ENST00000266744.3	CpG: 105	12q23.2	.	.	.	.	Score=384;Name="1090117:(CAG)n(Simple_repeat)"	rs3832799	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000150165.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0105	0.0172	.	0.00869565	.	.	.	.	.	.	.	.	.	.	2.339514,13.78	.	AC=6,2,7,1;AN=30;DP4=123,55,68,47;DP=442;HOB=0.5;ICB=1;IDV=4;IMF=0.137931;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,7,9,10,14,17,18,19,20,22,23;SGB=-0.556411;VDB=0.189163	GT:DP:DV:PL	.	0/3:19:4:130,.,.,.,.,.,0,.,.,255,.,.,.,.,.	1/2:18:18:255,160,118,255,0,255,.,.,.,.,.,.,.,.,.	0/1:18:7:215,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/3:17:3:98,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/1:34:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:20:4:81,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	0/3:11:2:56,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/4:19:9:254,.,.,.,.,.,.,.,.,.,0,.,.,.,255	.	.	.	0/3:18:3:93,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	.	0/1:12:6:188,0,242,.,.,.,.,.,.,.,.,.,.,.,.	0/2:11:8:120,.,.,0,.,127,.,.,.,.,.,.,.,.,.	0/3:26:4:103,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/1:17:7:113,0,255,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:16:12:255,0,168,.,.,.,.,.,.,.,.,.,.,.,.	0/3:37:5:147,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	0	15	Central hypoventilation syndrome, congenital, 209880 (3); Haddad syndrome, 209880 (3)	.	.	.	24925909|24179156|21753754|21725324|21617644|20107439|18173746|17141158|15133515|14532329|12050665|8719343|8595908|8390674|8221886	.	.	.	.	PID_HES_HEYPATHWAY	.	.	BP6
L	12	103352171	rs3832799	C	CGCAGCAGCAGCA	121.3	PASS	ASCL1	achaete-scute family bHLH transcription factor 1	exonic	NM_004316	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.149_150insGCAGCAGCAGCA:p.A50delinsAQQQQ	ENST00000266744.3	CpG: 105	12q23.2	.	.	.	.	Score=384;Name="1090117:(CAG)n(Simple_repeat)"	rs3832799	CLINSIG=Benign;CLNDBN=not_specified;CLNACC=RCV000150165.1;CLNDSDB=MedGen;CLNDSDBID=CN169374	.	.	.	.	.	0.0066	0.0172	.	0.0130435	.	.	.	.	.	.	.	.	.	.	2.183572,13.26	.	AC=6,2,7,1;AN=30;DP4=123,55,68,47;DP=442;HOB=0.5;ICB=1;IDV=4;IMF=0.137931;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,4,5,7,9,10,14,17,18,19,20,22,23;SGB=-0.556411;VDB=0.189163	GT:DP:DV:PL	.	0/3:19:4:130,.,.,.,.,.,0,.,.,255,.,.,.,.,.	1/2:18:18:255,160,118,255,0,255,.,.,.,.,.,.,.,.,.	0/1:18:7:215,0,255,.,.,.,.,.,.,.,.,.,.,.,.	0/3:17:3:98,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/1:34:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:20:4:81,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	0/3:11:2:56,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/4:19:9:254,.,.,.,.,.,.,.,.,.,0,.,.,.,255	.	.	.	0/3:18:3:93,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	.	0/1:12:6:188,0,242,.,.,.,.,.,.,.,.,.,.,.,.	0/2:11:8:120,.,.,0,.,127,.,.,.,.,.,.,.,.,.	0/3:26:4:103,.,.,.,.,.,0,.,.,255,.,.,.,.,.	0/1:17:7:113,0,255,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:16:12:255,0,168,.,.,.,.,.,.,.,.,.,.,.,.	0/3:37:5:147,.,.,.,.,.,0,.,.,255,.,.,.,.,.	.	CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,CGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	0	15	Central hypoventilation syndrome, congenital, 209880 (3); Haddad syndrome, 209880 (3)	.	.	.	24925909|24179156|21753754|21725324|21617644|20107439|18173746|17141158|15133515|14532329|12050665|8719343|8595908|8390674|8221886	.	.	.	.	PID_HES_HEYPATHWAY	.	.	BP6
H	12	109625976	.	C	CTCCTTCCT	131.68	PASS	ACACB	acetyl-CoA carboxylase beta	splicing	NM_001093	NM_001093:exon12:c.2144+9->TCCTTCCT	.	.	ENST00000377854.5,ENST00000338432.7,ENST00000377848.3	.	12q24.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	.	.	.	.	.	.	.	.	.	.	-0.547172,1.520	.	AC=7,2,3,5,2;AN=20;DP4=0,5,1,53;DP=496;HOB=0.5;ICB=1;IDV=4;IMF=0.0701754;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,6,14,17,18,19,20,21;SGB=-0.556411;VDB=0.220638	GT:DP:DV:PL	4/4:4:4:181,.,.,.,.,.,.,.,.,.,12,.,.,.,0,.,.,.,.,.,.	3/4:6:6:249,.,.,.,.,.,57,.,.,42,200,.,.,0,197,.,.,.,.,.,.	4/4:7:7:247,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.	.	.	.	1/1:7:7:236,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	.	.	.	1/1:4:4:145,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:65,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:11:6:65,.,.,0,.,39,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:5:5:193,.,.,.,.,.,26,.,.,14,.,.,.,.,.,.,.,.,.,.,.	2/1:9:9:113,74,62,59,0,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:4:4:181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,0	.	.	.	CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	7	3	Acetyl-Coenzyme A carboxylase, beta	.	.	.	22660331|20457939|11283375|10677481|9284908|9099716|8876158	.	.	.	KEGG_PYRUVATE_METABOLISM;KEGG_PROPANOATE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	
H	12	109625976	rs764603674	C	CTCCT	131.68	PASS	ACACB	acetyl-CoA carboxylase beta	splicing	NM_001093	NM_001093:exon12:c.2144+9->TCCT	.	.	ENST00000377854.5,ENST00000338432.7,ENST00000377848.3	.	12q24.11	.	.	.	.	.	rs764603674	.	.	.	.	.	.	0.0021	0.0028	.	0.073913	.	.	.	.	.	.	.	.	.	.	-0.512518,1.657	.	AC=7,2,3,5,2;AN=20;DP4=0,5,1,53;DP=496;HOB=0.5;ICB=1;IDV=4;IMF=0.0701754;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,6,14,17,18,19,20,21;SGB=-0.556411;VDB=0.220638	GT:DP:DV:PL	4/4:4:4:181,.,.,.,.,.,.,.,.,.,12,.,.,.,0,.,.,.,.,.,.	3/4:6:6:249,.,.,.,.,.,57,.,.,42,200,.,.,0,197,.,.,.,.,.,.	4/4:7:7:247,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.	.	.	.	1/1:7:7:236,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	.	.	.	1/1:4:4:145,12,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:2:2:65,6,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:11:6:65,.,.,0,.,39,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:5:5:193,.,.,.,.,.,26,.,.,14,.,.,.,.,.,.,.,.,.,.,.	2/1:9:9:113,74,62,59,0,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:4:4:181,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,0	.	.	.	CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC,CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	7	3	Acetyl-Coenzyme A carboxylase, beta	.	.	.	22660331|20457939|11283375|10677481|9284908|9099716|8876158	.	.	.	KEGG_PYRUVATE_METABOLISM;KEGG_PROPANOATE_METABOLISM;KEGG_INSULIN_SIGNALING_PATHWAY;KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	.	.	REACTOME_ACTIVATED_AMPK_STIMULATES_FATTY_ACID_OXIDATION_IN_MUSCLE;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM	
H	12	112036753	.	G	GGCTGCGGCTGCT	210.64	PASS	ATXN2	ataxin 2	exonic	NM_002973	.	nonframeshift insertion	ATXN2:NM_002973:exon1:c.565_566insAGCAGCCGCAGC:p.P189delinsQQPQP	ENST00000542287.2,ENST00000608853.1,ENST00000377617.3,ENST00000535949.1,ENST00000550104.1,ENST00000549455.1	CpG: 183	12q24.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=46,2,2;AN=50;DP4=0,0,185,149;DP=521;IDV=10;IMF=0.526316;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.680642;VDB=0.0684329	GT:DP:DV:PL	1/1:12:12:255,43,10,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	1/1:18:18:255,57,6,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:12:12:255,48,15,.,.,.,.,.,.,.	1/3:21:21:255,114,57,.,.,.,255,0,.,255	1/1:14:14:255,42,0,.,.,.,.,.,.,.	1/1:13:13:255,39,0,.,.,.,.,.,.,.	1/1:6:6:217,18,0,.,.,.,.,.,.,.	1/1:7:7:245,21,0,.,.,.,.,.,.,.	1/1:9:9:255,27,0,.,.,.,.,.,.,.	1/1:11:11:255,57,27,.,.,.,.,.,.,.	1/3:19:19:255,113,62,.,.,.,255,0,.,255	1/1:23:23:255,69,0,.,.,.,.,.,.,.	1/1:9:9:255,57,33,.,.,.,.,.,.,.	2/2:5:5:195,.,.,43,.,34,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:7:7:125,21,0,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.	1/1:7:7:255,21,0,.,.,.,.,.,.,.	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:7:7:255,21,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:27:27:255,81,0,.,.,.,.,.,.,.	1/1:23:23:255,69,0,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	23	2	Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3)	.	.	.	23687048|23687047|23172909|23087021|21670397|21610160|21562247|21537950|20740007|18250099|17568014|16713569|16293225|16115810|12812977|11761482|11689490|11311558|10993999|10915763|10814712|9989626|9668173|9480749|9158145|8896557|8896556|8896555|8696339|7477379	MACROMOLECULAR_COMPLEX_ASSEMBLY;RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS_AND_ASSEMBLY;PROTEIN_RNA_COMPLEX_ASSEMBLY;CELLULAR_COMPONENT_ASSEMBLY	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;GOLGI_APPARATUS_PART;PERINUCLEAR_REGION_OF_CYTOPLASM;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANS_GOLGI_NETWORK	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	PM2,PM4
L	12	112036753	rs775342465	GGCTGCT	G	210.64	PASS	ATXN2	ataxin 2	exonic	NM_002973	.	nonframeshift deletion	ATXN2:NM_002973:exon1:c.560_565del:p.187_189del	ENST00000542287.2,ENST00000608853.1,ENST00000377617.3,ENST00000535949.1,ENST00000550104.1,ENST00000549455.1	CpG: 183	12q24.12	.	.	.	.	Score=609;Name="1110266:(CTG)n(Simple_repeat)"	rs775342465	.	.	.	.	.	.	0.0143	0.02	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=46,2,2;AN=50;DP4=0,0,185,149;DP=521;IDV=10;IMF=0.526316;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.680642;VDB=0.0684329	GT:DP:DV:PL	1/1:12:12:255,43,10,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	1/1:18:18:255,57,6,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:12:12:255,48,15,.,.,.,.,.,.,.	1/3:21:21:255,114,57,.,.,.,255,0,.,255	1/1:14:14:255,42,0,.,.,.,.,.,.,.	1/1:13:13:255,39,0,.,.,.,.,.,.,.	1/1:6:6:217,18,0,.,.,.,.,.,.,.	1/1:7:7:245,21,0,.,.,.,.,.,.,.	1/1:9:9:255,27,0,.,.,.,.,.,.,.	1/1:11:11:255,57,27,.,.,.,.,.,.,.	1/3:19:19:255,113,62,.,.,.,255,0,.,255	1/1:23:23:255,69,0,.,.,.,.,.,.,.	1/1:9:9:255,57,33,.,.,.,.,.,.,.	2/2:5:5:195,.,.,43,.,34,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:7:7:125,21,0,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.	1/1:7:7:255,21,0,.,.,.,.,.,.,.	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:7:7:255,21,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:27:27:255,81,0,.,.,.,.,.,.,.	1/1:23:23:255,69,0,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	23	2	Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3); {Parkinson disease, late-onset, susceptibility to}, 168600 (3)	.	.	.	23687048|23687047|23172909|23087021|21670397|21610160|21562247|21537950|20740007|18250099|17568014|16713569|16293225|16115810|12812977|11761482|11689490|11311558|10993999|10915763|10814712|9989626|9668173|9480749|9158145|8896557|8896556|8896555|8696339|7477379	MACROMOLECULAR_COMPLEX_ASSEMBLY;RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS_AND_ASSEMBLY;PROTEIN_RNA_COMPLEX_ASSEMBLY;CELLULAR_COMPONENT_ASSEMBLY	ORGANELLE_PART;RIBONUCLEOPROTEIN_COMPLEX;CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM;GOLGI_APPARATUS_PART;PERINUCLEAR_REGION_OF_CYTOPLASM;INTRACELLULAR_ORGANELLE_PART;MACROMOLECULAR_COMPLEX;TRANS_GOLGI_NETWORK	PROTEIN_C_TERMINUS_BINDING	.	.	.	.	
H	12	121678327	rs778701848	C	CTTTT	114.44	PASS	CAMKK2	calcium/calmodulin-dependent protein kinase kinase 2, beta	exonic	NM_001270486	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1614_1615insAAAA:p.G539fs	ENST00000538733.1,ENST00000347034.2,ENST00000545538.1,ENST00000392474.2,ENST00000337174.3,ENST00000324774.5	.	12q24.31	.	.	.	.	.	rs778701848	.	.	.	.	.	.	0.0472	0.0060	0.00284091	0.00434783	.	.	.	.	.	.	.	.	.	.	1.774894,11.89	.	AC=12,2;AN=18;DP4=34,17,85,91;DP=377;HOB=0.5;ICB=1;IDV=22;IMF=0.55;MQ0F=0;MQ=60;MQSB=1;SF=2,3,4,7,14,17,18,20,23;SGB=-0.670168;VDB=0.754643	GT:DP:DV:PL	.	.	0/1:17:10:109,21,26,.,.,.	2/1:25:14:156,118,117,40,0,42	1/1:26:26:199,77,26,.,.,.	.	.	1/2:29:28:254,132,87,159,0,146	.	.	.	.	.	.	1/1:26:25:199,73,33,.,.,.	.	.	0/1:24:15:128,0,6,.,.,.	0/1:27:17:119,6,13,.,.,.	.	0/1:28:17:133,0,3,.,.,.	.	.	1/1:25:24:166,60,27,.,.,.	.	CTTTTTTTTTTTTT	CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT	3	6	Calcium/calmodulin-dependent protein kinase kinase 2, beta	.	.	.	21957496|21807092|11395482|9872452|9822657|9662074	PROTEIN_AUTOPROCESSING;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;CALCIUM_MEDIATED_SIGNALING;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;SECOND_MESSENGER_MEDIATED_SIGNALING;TRANSCRIPTION;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;MAPKKK_CASCADE_GO_0000165;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;REGULATION_OF_TRANSCRIPTION;POSITIVE_REGULATION_OF_TRANSCRIPTION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;CATION_BINDING;CALCIUM_ION_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_TYROSINE_KINASE_ACTIVITY;ION_BINDING;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CALMODULIN_BINDING	KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY	PID_VEGFR1_2_PATHWAY	BIOCARTA_CACAM_PATHWAY	.	
L	12	124824739	rs61519723	T	TGCCG	122.42	PASS	NCOR2	nuclear receptor corepressor 2	exonic	NM_001077261,NM_001206654,NM_006312	.	frameshift insertion	NCOR2:NM_001077261:exon38:c.5469_5470insCGGC:p.S1824fs,NCOR2:NM_001206654:exon38:c.5469_5470insCGGC:p.S1824fs,NCOR2:NM_006312:exon39:c.5499_5500insCGGC:p.S1834fs	ENST00000404621.1,ENST00000405201.1,ENST00000429285.2,ENST00000404121.2,ENST00000397355.1,ENST00000356219.3	.	12q24.31	.	.	.	.	Score=203;Name="1142731:(CTG)n(Simple_repeat)"	rs61519723	.	.	.	.	.	.	8.985e-05	0	0.0227273	0.00434783	.	.	.	.	.	.	.	.	.	.	7.757378,39	.	AC=16,1,1;AN=36;DP4=272,88,95,113;DP=1977;HOB=0.5;ICB=1;IDV=2;IMF=0.0178571;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,13,14,15,16,18,19,20,24;SGB=-0.556411;VDB=0.779512	GT:DP:DV:PL	0/1:22:4:92,0,255,.,.,.,.,.,.,.	0/2:61:50:255,.,.,0,.,40,.,.,.,.	0/3:94:76:255,.,.,.,.,.,0,.,.,40	0/1:26:5:189,0,255,.,.,.,.,.,.,.	0/1:23:3:103,0,255,.,.,.,.,.,.,.	.	0/1:24:5:118,0,255,.,.,.,.,.,.,.	0/1:30:4:109,0,255,.,.,.,.,.,.,.	.	0/1:15:5:179,0,255,.,.,.,.,.,.,.	0/1:26:6:154,0,255,.,.,.,.,.,.,.	0/1:18:5:141,0,255,.,.,.,.,.,.,.	.	0/1:45:6:114,0,255,.,.,.,.,.,.,.	0/1:26:5:154,0,255,.,.,.,.,.,.,.	0/1:19:6:209,0,255,.,.,.,.,.,.,.	0/1:29:3:85,0,255,.,.,.,.,.,.,.	.	0/1:27:4:115,0,255,.,.,.,.,.,.,.	0/1:33:8:232,0,255,.,.,.,.,.,.,.	0/1:30:9:255,0,255,.,.,.,.,.,.,.	.	.	.	0/1:20:4:82,0,255,.,.,.,.,.,.,.	T	TGCCG,TGCCGCTGCA,TGCCGCTGCG	0	18	Nuclear receptor corepressor 2	.	.	.	25915022|22230954|22001906|17928865|15494311|11804585|11435691|10573424|10077563|7566127|7566114	.	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	
L	12	124824739	.	T	TGCCGCTGCA	122.42	PASS	NCOR2	nuclear receptor corepressor 2	exonic	NM_001077261,NM_001206654,NM_006312	.	nonframeshift insertion	NCOR2:NM_001077261:exon38:c.5469_5470insTGCAGCGGC:p.S1824delinsCSGS,NCOR2:NM_001206654:exon38:c.5469_5470insTGCAGCGGC:p.S1824delinsCSGS,NCOR2:NM_006312:exon39:c.5499_5500insTGCAGCGGC:p.S1834delinsCSGS	ENST00000404621.1,ENST00000405201.1,ENST00000429285.2,ENST00000404121.2,ENST00000397355.1,ENST00000356219.3	.	12q24.31	.	.	.	.	Score=203;Name="1142731:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=16,1,1;AN=36;DP4=272,88,95,113;DP=1977;HOB=0.5;ICB=1;IDV=2;IMF=0.0178571;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,13,14,15,16,18,19,20,24;SGB=-0.556411;VDB=0.779512	GT:DP:DV:PL	0/1:22:4:92,0,255,.,.,.,.,.,.,.	0/2:61:50:255,.,.,0,.,40,.,.,.,.	0/3:94:76:255,.,.,.,.,.,0,.,.,40	0/1:26:5:189,0,255,.,.,.,.,.,.,.	0/1:23:3:103,0,255,.,.,.,.,.,.,.	.	0/1:24:5:118,0,255,.,.,.,.,.,.,.	0/1:30:4:109,0,255,.,.,.,.,.,.,.	.	0/1:15:5:179,0,255,.,.,.,.,.,.,.	0/1:26:6:154,0,255,.,.,.,.,.,.,.	0/1:18:5:141,0,255,.,.,.,.,.,.,.	.	0/1:45:6:114,0,255,.,.,.,.,.,.,.	0/1:26:5:154,0,255,.,.,.,.,.,.,.	0/1:19:6:209,0,255,.,.,.,.,.,.,.	0/1:29:3:85,0,255,.,.,.,.,.,.,.	.	0/1:27:4:115,0,255,.,.,.,.,.,.,.	0/1:33:8:232,0,255,.,.,.,.,.,.,.	0/1:30:9:255,0,255,.,.,.,.,.,.,.	.	.	.	0/1:20:4:82,0,255,.,.,.,.,.,.,.	T	TGCCG,TGCCGCTGCA,TGCCGCTGCG	0	18	Nuclear receptor corepressor 2	.	.	.	25915022|22230954|22001906|17928865|15494311|11804585|11435691|10573424|10077563|7566127|7566114	.	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PM2
L	12	124824739	.	T	TGCCGCTGCG	122.42	PASS	NCOR2	nuclear receptor corepressor 2	exonic	NM_001077261,NM_001206654,NM_006312	.	nonframeshift insertion	NCOR2:NM_001077261:exon38:c.5469_5470insCGCAGCGGC:p.S1824delinsRSGS,NCOR2:NM_001206654:exon38:c.5469_5470insCGCAGCGGC:p.S1824delinsRSGS,NCOR2:NM_006312:exon39:c.5499_5500insCGCAGCGGC:p.S1834delinsRSGS	ENST00000404621.1,ENST00000405201.1,ENST00000429285.2,ENST00000404121.2,ENST00000397355.1,ENST00000356219.3	.	12q24.31	.	.	.	.	Score=203;Name="1142731:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	0.00568182	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=16,1,1;AN=36;DP4=272,88,95,113;DP=1977;HOB=0.5;ICB=1;IDV=2;IMF=0.0178571;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,13,14,15,16,18,19,20,24;SGB=-0.556411;VDB=0.779512	GT:DP:DV:PL	0/1:22:4:92,0,255,.,.,.,.,.,.,.	0/2:61:50:255,.,.,0,.,40,.,.,.,.	0/3:94:76:255,.,.,.,.,.,0,.,.,40	0/1:26:5:189,0,255,.,.,.,.,.,.,.	0/1:23:3:103,0,255,.,.,.,.,.,.,.	.	0/1:24:5:118,0,255,.,.,.,.,.,.,.	0/1:30:4:109,0,255,.,.,.,.,.,.,.	.	0/1:15:5:179,0,255,.,.,.,.,.,.,.	0/1:26:6:154,0,255,.,.,.,.,.,.,.	0/1:18:5:141,0,255,.,.,.,.,.,.,.	.	0/1:45:6:114,0,255,.,.,.,.,.,.,.	0/1:26:5:154,0,255,.,.,.,.,.,.,.	0/1:19:6:209,0,255,.,.,.,.,.,.,.	0/1:29:3:85,0,255,.,.,.,.,.,.,.	.	0/1:27:4:115,0,255,.,.,.,.,.,.,.	0/1:33:8:232,0,255,.,.,.,.,.,.,.	0/1:30:9:255,0,255,.,.,.,.,.,.,.	.	.	.	0/1:20:4:82,0,255,.,.,.,.,.,.,.	T	TGCCG,TGCCGCTGCA,TGCCGCTGCG	0	18	Nuclear receptor corepressor 2	.	.	.	25915022|22230954|22001906|17928865|15494311|11804585|11435691|10573424|10077563|7566127|7566114	.	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	
H	12	124887058	rs35831183	G	GGCTGCTGCT	208.39	PASS	NCOR2	nuclear receptor corepressor 2	exonic	NM_001077261,NM_001206654,NM_006312	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1528_1529insAGCAGCAGC:p.P510delinsQQQP,NCOR2:NM_001206654:exon16:c.1528_1529insAGCAGCAGC:p.P510delinsQQQP,NCOR2:NM_006312:exon16:c.1531_1532insAGCAGCAGC:p.P511delinsQQQP	ENST00000404621.1,ENST00000405201.1,ENST00000429285.2,ENST00000404121.2,ENST00000397355.1,ENST00000356219.3	.	12q24.31	.	.	.	.	.	rs35831183	.	.	.	.	.	.	0.0105	0.0204	.	0.0695652	.	.	.	.	.	.	.	.	.	.	1.694191,11.62	.	AC=22,3,5,1,2;AN=46;DP4=108,130,251,366;DP=1477;HOB=0.5;ICB=1;IDV=23;IMF=0.469388;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,19,20,21,22,23,24;SGB=-0.69311;VDB=0.00391254	GT:DP:DV:PL	0/1:33:31:255,0,15,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:37:18:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:30:19:255,0,230,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:27:25:255,13,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:19:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:59:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:13:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:40:39:255,95,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:10:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/4:27:4:94,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	3/3:40:40:255,.,.,.,.,.,137,.,.,32,.,.,.,.,.,.,.,.,.,.,.	0/1:34:32:255,0,15,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:63:30:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:45:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:31:29:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255	1/1:39:37:255,38,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:28:28:255,84,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:43:43:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/1:39:38:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	2/1:13:13:255,255,255,250,0,232,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:63:35:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:43:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	5	18	Nuclear receptor corepressor 2	.	.	.	25915022|22230954|22001906|17928865|15494311|11804585|11435691|10573424|10077563|7566127|7566114	.	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PM4
L	12	124887058	rs753830534	GGCT	G	208.39	PASS	NCOR2	nuclear receptor corepressor 2	exonic	NM_001077261,NM_001206654,NM_006312	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1526_1528del:p.509_510del,NCOR2:NM_001206654:exon16:c.1526_1528del:p.509_510del,NCOR2:NM_006312:exon16:c.1529_1531del:p.510_511del	ENST00000404621.1,ENST00000405201.1,ENST00000429285.2,ENST00000404121.2,ENST00000397355.1,ENST00000356219.3	.	12q24.31	.	.	.	.	Score=426;Name="1142834:(CTG)n(Simple_repeat)"	rs753830534	.	.	.	.	.	.	0.0036	0.0031	.	0.00869565	.	.	.	.	.	.	.	.	.	.	1.715027,11.69	.	AC=22,3,5,1,2;AN=46;DP4=108,130,251,366;DP=1477;HOB=0.5;ICB=1;IDV=23;IMF=0.469388;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,19,20,21,22,23,24;SGB=-0.69311;VDB=0.00391254	GT:DP:DV:PL	0/1:33:31:255,0,15,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:37:18:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:30:19:255,0,230,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:27:25:255,13,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:19:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:59:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:30:13:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:40:39:255,95,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:10:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/4:27:4:94,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	3/3:40:40:255,.,.,.,.,.,137,.,.,32,.,.,.,.,.,.,.,.,.,.,.	0/1:34:32:255,0,15,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:63:30:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:45:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:31:29:255,255,255,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255	1/1:39:37:255,38,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:28:28:255,84,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:43:43:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/1:39:38:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	2/1:13:13:255,255,255,250,0,232,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:63:35:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:43:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,GGCTGCTGCTGCTGCTGCTGCTGCTGCTG	5	18	Nuclear receptor corepressor 2	.	.	.	25915022|22230954|22001906|17928865|15494311|11804585|11435691|10573424|10077563|7566127|7566114	.	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;RECEPTOR_BINDING;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	KEGG_NOTCH_SIGNALING_PATHWAY	PID_NOTCH_PATHWAY;PID_HDAC_CLASSII_PATHWAY;PID_HDAC_CLASSI_PATHWAY;PID_RXR_VDR_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HES_HEYPATHWAY	BIOCARTA_CARM_ER_PATHWAY;BIOCARTA_EGFR_SMRTE_PATHWAY;BIOCARTA_PPARA_PATHWAY;BIOCARTA_ETS_PATHWAY;BIOCARTA_RARRXR_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_NOTCH1_INTRACELLULAR_DOMAIN_REGULATES_TRANSCRIPTION;REACTOME_SIGNALING_BY_NOTCH1;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_DOWNREGULATION_OF_SMAD2_3_SMAD4_TRANSCRIPTIONAL_ACTIVITY;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION;REACTOME_SIGNALING_BY_NOTCH;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	
L	12	125478386	.	T	TGCTGCG	193	PASS	BRI3BP	BRI3 binding protein	exonic	NM_080626	.	nonframeshift insertion	BRI3BP:NM_080626:exon1:c.50_51insGCTGCG:p.L17delinsLLR	ENST00000341446.8	CpG: 67	12q24.31	.	.	.	.	Score=264;Name="1144376:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=2;DP4=2,1,12,3;DP=26;IDV=2;IMF=0.0769231;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.688148;VDB=0.566091	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:18:15:255,50,91,255,0,255	.	.	.	.	TGCTGC	TGCTGCGGCTGC,TGCAGCTGC	0	1	BRI3-binding protein	.	.	.	24371310|17765869|11860200	.	.	.	.	.	.	.	PM2
L	12	125478386	.	T	TGCA	193	PASS	BRI3BP	BRI3 binding protein	exonic	NM_080626	.	nonframeshift insertion	BRI3BP:NM_080626:exon1:c.50_51insGCA:p.L17delinsLQ	ENST00000341446.8	CpG: 67	12q24.31	.	.	.	.	Score=264;Name="1144376:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=2;DP4=2,1,12,3;DP=26;IDV=2;IMF=0.0769231;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.688148;VDB=0.566091	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/2:18:15:255,50,91,255,0,255	.	.	.	.	TGCTGC	TGCTGCGGCTGC,TGCAGCTGC	0	1	BRI3-binding protein	.	.	.	24371310|17765869|11860200	.	.	.	.	.	.	.	PM2
L	12	132547093	.	A	ACAGCAGCAGCAGCAGCAG	219.11	PASS	EP400	E1A binding protein p400	exonic	NM_015409	.	nonframeshift insertion	EP400:NM_015409:exon47:c.8181_8182insCAGCAGCAGCAGCAGCAG:p.Q2727delinsQQQQQQQ	ENST00000333577.4,ENST00000389561.2,ENST00000389562.2,ENST00000330386.6,ENST00000332482.4	.	12q24.33	.	.	.	.	Score=708;Name="1158124:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=19,1,1;AN=36;DP4=159,57,252,117;DP=886;HOB=0.5;ICB=1;IDV=7;IMF=0.159091;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,7,8,9,10,11,14,15,16,17,18,19,20,22,24;SGB=-0.683931;VDB=0.0649024	GT:DP:DV:PL	.	0/1:27:13:255,0,255,.,.,.,.,.,.,.	0/1:39:24:255,0,255,.,.,.,.,.,.,.	0/1:28:11:255,0,255,.,.,.,.,.,.,.	.	0/1:53:30:255,0,255,.,.,.,.,.,.,.	.	0/1:39:21:255,0,255,.,.,.,.,.,.,.	1/1:27:27:255,78,0,.,.,.,.,.,.,.	0/1:23:17:255,0,178,.,.,.,.,.,.,.	0/1:29:26:255,0,65,.,.,.,.,.,.,.	0/1:30:12:255,0,255,.,.,.,.,.,.,.	.	.	0/1:36:23:255,0,247,.,.,.,.,.,.,.	1/1:26:24:255,28,32,.,.,.,.,.,.,.	0/3:29:15:255,.,.,.,.,.,0,.,.,255	0/1:26:17:255,0,123,.,.,.,.,.,.,.	1/2:40:40:255,255,255,255,0,255,.,.,.,.	0/1:36:17:255,0,255,.,.,.,.,.,.,.	0/1:34:19:255,0,255,.,.,.,.,.,.,.	.	0/1:19:10:255,0,255,.,.,.,.,.,.,.	.	0/1:44:23:255,0,255,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	2	16	p400 SWI2/SNF2-related protein	.	.	.	24463511|20133580|18614019|14966270|11509179|9225980	.	.	.	.	.	.	.	PM2
L	12	132547093	.	ACAGCAG	A	219.11	PASS	EP400	E1A binding protein p400	exonic	NM_015409	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8182_8187del:p.2728_2729del	ENST00000333577.4,ENST00000389561.2,ENST00000389562.2,ENST00000330386.6,ENST00000332482.4	.	12q24.33	.	.	.	.	Score=708;Name="1158124:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075515,4.409	.	AC=19,1,1;AN=36;DP4=159,57,252,117;DP=886;HOB=0.5;ICB=1;IDV=7;IMF=0.159091;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,7,8,9,10,11,14,15,16,17,18,19,20,22,24;SGB=-0.683931;VDB=0.0649024	GT:DP:DV:PL	.	0/1:27:13:255,0,255,.,.,.,.,.,.,.	0/1:39:24:255,0,255,.,.,.,.,.,.,.	0/1:28:11:255,0,255,.,.,.,.,.,.,.	.	0/1:53:30:255,0,255,.,.,.,.,.,.,.	.	0/1:39:21:255,0,255,.,.,.,.,.,.,.	1/1:27:27:255,78,0,.,.,.,.,.,.,.	0/1:23:17:255,0,178,.,.,.,.,.,.,.	0/1:29:26:255,0,65,.,.,.,.,.,.,.	0/1:30:12:255,0,255,.,.,.,.,.,.,.	.	.	0/1:36:23:255,0,247,.,.,.,.,.,.,.	1/1:26:24:255,28,32,.,.,.,.,.,.,.	0/3:29:15:255,.,.,.,.,.,0,.,.,255	0/1:26:17:255,0,123,.,.,.,.,.,.,.	1/2:40:40:255,255,255,255,0,255,.,.,.,.	0/1:36:17:255,0,255,.,.,.,.,.,.,.	0/1:34:19:255,0,255,.,.,.,.,.,.,.	.	0/1:19:10:255,0,255,.,.,.,.,.,.,.	.	0/1:44:23:255,0,255,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	2	16	p400 SWI2/SNF2-related protein	.	.	.	24463511|20133580|18614019|14966270|11509179|9225980	.	.	.	.	.	.	.	PM2
H	13	31287978	rs369636483	G	GGT	204.17	PASS	ALOX5AP	arachidonate 5-lipoxygenase-activating protein	exonic	NM_001204406	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.W39fs	.	.	13q12.3	.	.	.	.	.	rs369636483	.	.	.	.	.	.	0.0171	0.01	.	0.00434783	.	.	.	.	.	.	.	.	.	.	-0.049431,3.762	.	AC=13,7,1;AN=24;DP4=13,27,120,177;DP=581;HOB=0.5;ICB=1;IDV=19;IMF=0.44186;MQ0F=0;MQ=60;MQSB=1;SF=2,5,7,9,10,15,16,20,21,22,23,24;SGB=-0.692352;VDB=0.00296769	GT:DP:DV:PL	.	.	0/1:35:21:255,0,255,.,.,.,.,.,.,.	.	.	1/2:30:29:255,227,195,255,0,255,.,.,.,.	.	1/2:43:41:255,255,255,255,0,255,.,.,.,.	.	2/1:24:24:255,214,193,255,0,255,.,.,.,.	1/3:8:8:255,57,36,.,.,.,225,0,.,222	.	.	.	.	0/1:32:19:255,0,255,.,.,.,.,.,.,.	1/2:32:30:255,142,146,255,0,255,.,.,.,.	.	.	.	2/1:26:25:255,134,132,201,0,172,.,.,.,.	1/2:46:46:255,255,221,255,0,255,.,.,.,.	0/1:14:8:255,0,112,.,.,.,.,.,.,.	1/2:22:22:255,222,198,255,0,255,.,.,.,.	1/1:25:24:255,28,0,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTG	1	11	{Stroke, susceptibility to}, 601367 (3)	.	.	.	17600184|10036194|2300173|2300172|1673682	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	.	PVS1
H	13	31287978	rs369636483	G	GGTGTGT	204.17	PASS	ALOX5AP	arachidonate 5-lipoxygenase-activating protein	exonic	NM_001204406	.	nonframeshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGTGTGT:p.W39delinsWCV	.	.	13q12.3	.	.	.	.	.	rs369636483	.	.	.	.	.	.	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=13,7,1;AN=24;DP4=13,27,120,177;DP=581;HOB=0.5;ICB=1;IDV=19;IMF=0.44186;MQ0F=0;MQ=60;MQSB=1;SF=2,5,7,9,10,15,16,20,21,22,23,24;SGB=-0.692352;VDB=0.00296769	GT:DP:DV:PL	.	.	0/1:35:21:255,0,255,.,.,.,.,.,.,.	.	.	1/2:30:29:255,227,195,255,0,255,.,.,.,.	.	1/2:43:41:255,255,255,255,0,255,.,.,.,.	.	2/1:24:24:255,214,193,255,0,255,.,.,.,.	1/3:8:8:255,57,36,.,.,.,225,0,.,222	.	.	.	.	0/1:32:19:255,0,255,.,.,.,.,.,.,.	1/2:32:30:255,142,146,255,0,255,.,.,.,.	.	.	.	2/1:26:25:255,134,132,201,0,172,.,.,.,.	1/2:46:46:255,255,221,255,0,255,.,.,.,.	0/1:14:8:255,0,112,.,.,.,.,.,.,.	1/2:22:22:255,222,198,255,0,255,.,.,.,.	1/1:25:24:255,28,0,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTG,GGTGTGTGTGTGTGTGTGTGTG	1	11	{Stroke, susceptibility to}, 601367 (3)	.	.	.	17600184|10036194|2300173|2300172|1673682	DEFENSE_RESPONSE;INFLAMMATORY_RESPONSE;RESPONSE_TO_STRESS;RESPONSE_TO_EXTERNAL_STIMULUS;RESPONSE_TO_WOUNDING	.	ENZYME_ACTIVATOR_ACTIVITY;ENZYME_REGULATOR_ACTIVITY	.	.	.	.	PM2,PM4
L	13	53029770	.	C	CGCGGGG	224.26	PASS	CKAP2	cytoskeleton associated protein 2	splicing	NM_001098525,NM_001286687,NM_018204	NM_001098525:exon1:c.70+9->GCGGGG;NM_001286687:exon1:c.70+9->GCGGGG;NM_018204:exon1:c.70+9->GCGGGG	.	.	ENST00000378034.3,ENST00000378037.5,ENST00000258607.5	CpG: 70	13q14.3	.	.	.	.	Score=204;Name="1221688:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=37,1;AN=46;DP4=85,112,207,623;DP=1904;HOB=0.5;ICB=1;IDV=27;IMF=0.473684;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,15,17,18,19,20,21,22,23,24;SGB=-0.693021;VDB=0.00432281	GT:DP:DV:PL	1/1:27:27:255,81,0,.,.,.	1/1:48:48:255,144,0,.,.,.	1/1:46:46:255,138,0,.,.,.	0/1:29:18:255,0,255,.,.,.	1/2:21:19:255,100,88,255,0,255	1/1:92:92:255,255,0,.,.,.	1/1:39:39:255,117,0,.,.,.	1/1:33:33:255,99,0,.,.,.	1/1:41:41:255,123,0,.,.,.	0/1:17:12:255,0,190,.,.,.	1/1:46:46:255,138,0,.,.,.	1/1:32:32:255,96,0,.,.,.	1/1:46:46:255,138,0,.,.,.	1/1:44:44:255,132,0,.,.,.	.	1/1:41:41:255,123,0,.,.,.	.	0/1:19:11:255,0,255,.,.,.	0/1:33:10:255,0,255,.,.,.	0/1:47:23:255,0,255,.,.,.	1/1:41:41:255,123,0,.,.,.	0/1:108:46:255,0,255,.,.,.	0/1:21:8:255,0,255,.,.,.	1/1:72:72:255,211,0,.,.,.	0/1:84:35:255,0,255,.,.,.	CGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGG	CGCGGTGGCGGTGGCGGTGGCGG,CGCGGGGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGG	14	9	Cytoskeleton-associated protein 2	.	.	.	17376772|16876122|12942315|9771967	.	.	.	.	.	.	.	PM2
H	13	78272267	rs201380414	T	TGG	164.43	PASS	SLAIN1	SLAIN motif family, member 1	exonic	NM_001242868	.	frameshift insertion	SLAIN1:NM_001242868:exon1:c.219_220insGG:p.A73fs	ENST00000466548.1	CpG: 92	13q22.3	.	.	.	.	.	rs201380414	.	.	.	.	.	.	0	.	.	1	.	.	.	.	.	.	.	.	.	.	0.972455,8.969	.	AC=50;AN=50;DP4=0,0,102,123;DP=420;IDV=16;IMF=0.842105;MQ0F=0;MQ=60;MQSB=0.992367;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.651104;VDB=0.226103	GT:DP:DV:PL	1/1:8:8:183,24,0	1/1:8:8:216,24,0	1/1:17:17:255,51,0	1/1:7:7:201,21,0	1/1:6:6:112,18,0	1/1:16:16:255,48,0	1/1:11:11:233,33,0	1/1:10:10:255,30,0	1/1:5:5:122,15,0	1/1:6:6:174,18,0	1/1:10:10:225,30,0	1/1:2:2:53,6,0	1/1:13:13:237,39,0	1/1:13:13:255,39,0	1/1:5:5:144,15,0	1/1:4:4:80,12,0	1/1:5:5:143,15,0	1/1:8:8:191,24,0	1/1:7:7:183,21,0	1/1:5:5:138,15,0	1/1:13:13:255,39,0	1/1:19:19:255,57,0	1/1:5:5:145,15,0	1/1:12:12:229,36,0	1/1:10:10:247,30,0	TGG	TGGGG	25	0	SLAIN motif family, member 1	.	.	.	16546155	.	.	.	.	.	.	.	
H	13	113818817	rs150762485	T	TTC	211.48	PASS	PROZ	protein Z, vitamin K-dependent plasma glycoprotein	splicing	NM_001256134,NM_003891	NM_001256134:exon6:c.440-10->TC;NM_003891:exon5:c.374-10->TC	.	.	ENST00000342783.4,ENST00000375547.2	.	13q34	.	.	.	.	.	rs150762485	.	.	0.0116279	0.0089	0.0081869	.	0.0166	0.0160	0.00689126833078	0.00961538064904	.	.	.	.	.	.	.	.	.	.	1.121296,9.572	.	AC=42,6;AN=50;DP4=8,4,462,294;DP=1114;HOB=0.5;ICB=1;IDV=38;IMF=0.716981;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693132;VDB=0.424201	GT:DP:DV:PL	1/2:34:34:255,180,90,255,0,255	1/1:36:36:255,120,21,.,.,.	1/1:40:40:255,133,24,.,.,.	1/2:31:31:255,235,160,255,0,255	1/1:24:24:255,69,0,.,.,.	1/1:50:50:255,138,0,.,.,.	1/1:23:23:255,66,0,.,.,.	1/2:44:44:255,255,169,255,0,255	1/1:32:32:255,105,21,.,.,.	1/1:34:34:255,99,0,.,.,.	0/1:26:22:225,0,13,.,.,.	1/1:33:33:255,96,0,.,.,.	1/1:18:18:255,73,25,.,.,.	1/1:25:25:255,72,0,.,.,.	1/1:34:34:255,96,0,.,.,.	1/1:25:25:255,75,0,.,.,.	1/2:26:26:255,177,110,255,0,255	1/1:25:25:255,72,0,.,.,.	1/1:31:31:255,90,0,.,.,.	1/2:24:24:255,127,64,255,0,255	1/1:30:30:255,98,14,.,.,.	0/1:45:37:255,27,52,.,.,.	1/1:10:10:248,45,18,.,.,.	1/2:32:32:255,127,40,255,0,255	1/1:36:36:255,100,3,.,.,.	TCC	TCCC,TTCCC	17	8	[Protein Z deficiency], 614024 (3)	.	.	.	16938126|15626740|14671240|11487045|11289354|10829076|9689066|9578570|7128593|6707212|3888670|2244898|1872862|892175	.	.	.	.	.	.	REACTOME_PTM_GAMMA_CARBOXYLATION_HYPUSINE_FORMATION_AND_ARYLSULFATASE_ACTIVATION;REACTOME_GAMMA_CARBOXYLATION_TRANSPORT_AND_AMINO_TERMINAL_CLEAVAGE_OF_PROTEINS;REACTOME_METABOLISM_OF_PROTEINS;REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION	
L	14	70039803	.	CGCGGCGGCG	C	215.4	PASS	CCDC177	coiled-coil domain containing 177	exonic	NM_001271507	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.528_536del:p.176_179del	ENST00000599174.1	CpG: 263	14q24.1	.	.	.	.	Score=249;Name="1410513:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=40,1,9;AN=50;DP4=1,1,195,359;DP=752;IDV=10;IMF=0.666667;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.00958286	GT:DP:DV:PL	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/3:26:26:255,255,255,.,.,.,255,0,.,255	1/1:37:37:255,111,0,.,.,.,.,.,.,.	1/1:22:21:255,48,0,.,.,.,.,.,.,.	1/3:28:28:255,255,255,.,.,.,255,0,.,255	1/1:39:39:255,108,0,.,.,.,.,.,.,.	1/3:13:13:255,176,155,.,.,.,255,0,.,255	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:17:17:255,57,9,.,.,.,.,.,.,.	1/1:16:16:255,57,12,.,.,.,.,.,.,.	1/3:24:24:255,255,255,.,.,.,255,0,.,255	3/3:22:21:255,.,.,.,.,.,50,.,.,0	1/1:30:30:255,90,0,.,.,.,.,.,.,.	3/1:27:27:255,255,255,.,.,.,255,0,.,255	1/1:24:24:255,69,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	1/1:14:14:255,42,0,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	3/1:24:24:255,255,255,.,.,.,114,0,.,48	1/1:31:31:255,93,0,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.	1/2:24:24:255,114,48,255,0,255,.,.,.,.	1/3:26:26:255,255,255,.,.,.,255,0,.,255	CGCGGCGGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGCGGC,CGCGGCGGCGGCGGCGGC,CGCGGCGGCGGCGGCGGCGGCGGC	17	8	.	.	.	.		.	.	.	.	.	.	.	PM2
L	14	70039803	rs375620132	CGCG	C	215.4	PASS	CCDC177	coiled-coil domain containing 177	exonic	NM_001271507	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.534_536del:p.178_179del	ENST00000599174.1	CpG: 263	14q24.1	.	.	.	.	Score=249;Name="1410513:(CGG)n(Simple_repeat)"	rs375620132	.	.	.	.	.	.	0	.	.	0.0869565	.	.	.	.	.	.	.	.	.	.	-0.405666,2.103	.	AC=40,1,9;AN=50;DP4=1,1,195,359;DP=752;IDV=10;IMF=0.666667;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.00958286	GT:DP:DV:PL	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/3:26:26:255,255,255,.,.,.,255,0,.,255	1/1:37:37:255,111,0,.,.,.,.,.,.,.	1/1:22:21:255,48,0,.,.,.,.,.,.,.	1/3:28:28:255,255,255,.,.,.,255,0,.,255	1/1:39:39:255,108,0,.,.,.,.,.,.,.	1/3:13:13:255,176,155,.,.,.,255,0,.,255	1/1:19:19:255,57,0,.,.,.,.,.,.,.	1/1:17:17:255,57,9,.,.,.,.,.,.,.	1/1:16:16:255,57,12,.,.,.,.,.,.,.	1/3:24:24:255,255,255,.,.,.,255,0,.,255	3/3:22:21:255,.,.,.,.,.,50,.,.,0	1/1:30:30:255,90,0,.,.,.,.,.,.,.	3/1:27:27:255,255,255,.,.,.,255,0,.,255	1/1:24:24:255,69,0,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.	1/1:20:20:255,60,0,.,.,.,.,.,.,.	1/1:16:16:255,48,0,.,.,.,.,.,.,.	1/1:14:14:255,42,0,.,.,.,.,.,.,.	1/1:22:22:255,66,0,.,.,.,.,.,.,.	3/1:24:24:255,255,255,.,.,.,114,0,.,48	1/1:31:31:255,93,0,.,.,.,.,.,.,.	1/1:13:13:255,57,21,.,.,.,.,.,.,.	1/2:24:24:255,114,48,255,0,255,.,.,.,.	1/3:26:26:255,255,255,.,.,.,255,0,.,255	CGCGGCGGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGCGGC,CGCGGCGGCGGCGGCGGC,CGCGGCGGCGGCGGCGGCGGCGGC	17	8	.	.	.	.		.	.	.	.	.	.	.	
L	14	71275773	rs752003010	GCCTCCT	G	100.9	PASS	MAP3K9	mitogen-activated protein kinase kinase kinase 9	exonic	NM_001284230,NM_033141	.	nonframeshift deletion	MAP3K9:NM_001284230:exon1:c.110_115del:p.37_39del,MAP3K9:NM_033141:exon1:c.110_115del:p.37_39del	ENST00000381250.4,ENST00000555993.2,ENST00000554752.2	CpG: 118	14q24.2	.	.	Score=831;Name=V$NGFIC_01	.	Score=252;Name="1412861:(TCC)n(Simple_repeat)"	rs752003010	.	.	.	.	.	0.0086	0.0004	0	.	.	.	.	.	.	.	.	.	.	.	.	1.459777,10.83	.	AC=13,1;AN=28;DP4=144,129,41,43;DP=551;HOB=0.5;ICB=1;IDV=3;IMF=0.136364;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,5,7,9,10,11,13,14,18,20,21,22;SGB=-0.453602;VDB=0.0189026	GT:DP:DV:PL	0/1:16:2:71,0,255,.,.,.	0/1:24:5:120,0,255,.,.,.	0/1:44:12:211,0,255,.,.,.	.	.	0/1:22:4:70,0,255,.,.,.	.	0/1:29:9:159,0,255,.,.,.	.	0/1:17:3:99,0,255,.,.,.	0/1:26:7:164,0,255,.,.,.	0/1:21:8:196,0,255,.,.,.	.	0/1:35:6:149,0,255,.,.,.	0/1:37:9:234,0,255,.,.,.	.	.	.	0/1:18:3:59,0,255,.,.,.	.	0/1:19:8:198,0,255,.,.,.	0/1:43:6:80,0,255,.,.,.	0/2:6:2:93,.,.,0,.,170	.	.	GCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTC,GCCTCCTCCTCCTCCTCCTCCTC	0	14	Mitogen-activated protein kinase kinase kinase 9	.	.	.	8477742	PROTEIN_AUTOPROCESSING;REGULATION_OF_KINASE_ACTIVITY;REGULATION_OF_PROTEIN_KINASE_ACTIVITY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_MOLECULAR_FUNCTION;SIGNAL_TRANSDUCTION;ACTIVATION_OF_JNK_ACTIVITY;REGULATION_OF_TRANSFERASE_ACTIVITY;POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;ACTIVATION_OF_MAPK_ACTIVITY;JNK_CASCADE;POSITIVE_REGULATION_OF_MAP_KINASE_ACTIVITY;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_KINASE_CASCADE;BIOPOLYMER_MODIFICATION;REGULATION_OF_MAP_KINASE_ACTIVITY;REGULATION_OF_CATALYTIC_ACTIVITY;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_JNK_ACTIVITY;POSITIVE_REGULATION_OF_TRANSFERASE_ACTIVITY;MAPKKK_CASCADE_GO_0000165;REGULATION_OF_JNK_ACTIVITY;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION;INTRACELLULAR_SIGNALING_CASCADE;STRESS_ACTIVATED_PROTEIN_KINASE_SIGNALING_PATHWAY	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_HOMODIMERIZATION_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;IDENTICAL_PROTEIN_BINDING;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;RECEPTOR_SIGNALING_PROTEIN_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;PROTEIN_DIMERIZATION_ACTIVITY;MAP_KINASE_KINASE_KINASE_ACTIVITY	.	.	BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY	.	PM2
H	14	81362142	rs757777812	G	GAAAAA	52.94	PASS	CEP128	centrosomal protein 128kDa	splicing	NM_152446	NM_152446:exon7:c.573-8->TTTTT	.	.	ENST00000327841.2,ENST00000281129.3,ENST00000555265.1,ENST00000216517.6	.	14q31.1	.	.	.	.	.	rs757777812	.	.	.	.	.	.	0.0150	0.0165	.	.	.	.	.	.	.	.	.	.	.	.	0.008031,4.056	.	AC=2,7,2;AN=12;DP4=8,8,14,33;DP=105;HOB=0.5;ICB=1;IDV=7;IMF=0.35;MQ0F=0;MQ=60;MQSB=0.964642;SF=10,12,16,18,20,23;SGB=-0.636426;VDB=0.00745627	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	3/2:11:7:79,.,.,45,.,45,33,.,0,34	.	2/3:8:8:137,.,.,64,.,52,91,.,0,79	.	.	.	1/2:7:7:95,43,37,61,0,55,.,.,.,.	.	0/2:12:7:73,.,.,12,.,15,.,.,.,.	.	2/1:15:11:160,89,87,72,0,70,.,.,.,.	.	.	2/2:10:7:97,.,.,21,.,19,.,.,.,.	.	GAAAAAAAAAAAAAA	GAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAA	1	5	.	.	.	.		.	.	.	.	.	.	.	
L	14	103804756	rs758558353	ACAC	A	23.28	PASS	EIF5	eukaryotic translation initiation factor 5	exonic	NM_001969,NM_183004	.	nonframeshift deletion	EIF5:NM_183004:exon6:c.533_535del:p.178_179del,EIF5:NM_001969:exon7:c.533_535del:p.178_179del	ENST00000216554.3,ENST00000558506.1,ENST00000392715.2	.	14q32.32	.	.	.	.	Score=207;Name="1476468:(CCA)n(Simple_repeat)"	rs758558353	.	.	.	.	.	0.0183	0.0005	0.0008	0.00142045	.	.	.	.	.	.	.	.	.	.	.	2.928017,15.76	.	AC=2;AN=4;DP4=48,9,4,3;DP=80;HOB=0.5;ICB=1;IDV=4;IMF=0.0930233;MQ0F=0;MQ=60;MQSB=1;SF=4,20;SGB=-0.556411;VDB=0.013071	GT:DP:DV:PL	.	.	.	.	0/1:37:4:63,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:3:59,0,255	.	.	.	.	ACACCACCACCACCACCACCACCA	ACACCACCACCACCACCACCA	0	2	Eukaryotic translation initiation factor 5	.	.	.	20485439|11092890|8663286|2598922	MACROMOLECULAR_COMPLEX_ASSEMBLY;BIOSYNTHETIC_PROCESS;TRANSLATIONAL_INITIATION;REGULATION_OF_TRANSLATIONAL_INITIATION;REGULATION_OF_TRANSLATION;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_BIOSYNTHETIC_PROCESS;REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION_AND_BIOGENESIS;RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS_AND_ASSEMBLY;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;PROTEIN_RNA_COMPLEX_ASSEMBLY;CELLULAR_COMPONENT_ASSEMBLY;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_BIOSYNTHETIC_PROCESS;PROTEIN_METABOLIC_PROCESS;REGULATION_OF_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;TRANSLATION;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS	CYTOPLASM	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	BIOCARTA_EIF_PATHWAY;BIOCARTA_EIF2_PATHWAY	REACTOME_TRANSLATION;REACTOME_METABOLISM_OF_PROTEINS	
L	15	23685006	.	A	ATCT	224.12	PASS	GOLGA6L2	golgin A6 family-like 2	exonic	NM_001304388	.	nonframeshift insertion	GOLGA6L2:NM_001304388:exon8:c.2615_2616insAGA:p.D872delinsED	ENST00000312015.5,ENST00000567107.1,ENST00000345070.5	.	15q11.2	.	.	.	Score=0.901999;Name=chr15:29086391	Score=478;Name="1487679:CT-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	0.00284091	0.0173913	.	.	.	.	.	.	.	.	.	.	-0.230081,2.889	.	AC=10,6;AN=16;DP4=3,0,151,147;DP=611;IDV=2;IMF=0.0363636;MQ0F=0;MQ=59;MQSB=0.862425;SF=0,4,5,18,19,20,23,24;SGB=-0.693097;VDB=0.000699483	GT:DP:DV:PL	2/2:30:30:.,.,.,.,.,0	.	.	.	1/1:17:15:224,3,0,.,.,.	2/2:66:65:.,.,.,.,.,0	.	.	.	.	.	.	.	.	.	.	.	.	1/1:31:31:255,93,0,.,.,.	2/2:32:32:.,.,.,.,.,0	1/1:27:27:255,81,0,.,.,.	.	.	1/1:53:53:255,160,0,.,.,.	1/1:45:45:255,135,0,.,.,.	ATCT	ATCTTCT,ATCCTCT	8	0	.	.	.	.		.	.	.	.	.	.	.	
L	15	23685006	.	A	ATCC	224.12	PASS	GOLGA6L2	golgin A6 family-like 2	exonic	NM_001304388	.	nonframeshift insertion	GOLGA6L2:NM_001304388:exon8:c.2615_2616insGGA:p.D872delinsED	ENST00000312015.5,ENST00000567107.1,ENST00000345070.5	.	15q11.2	.	.	.	Score=0.901999;Name=chr15:29086391	Score=478;Name="1487679:CT-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	0.0397727	0.0869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=10,6;AN=16;DP4=3,0,151,147;DP=611;IDV=2;IMF=0.0363636;MQ0F=0;MQ=59;MQSB=0.862425;SF=0,4,5,18,19,20,23,24;SGB=-0.693097;VDB=0.000699483	GT:DP:DV:PL	2/2:30:30:.,.,.,.,.,0	.	.	.	1/1:17:15:224,3,0,.,.,.	2/2:66:65:.,.,.,.,.,0	.	.	.	.	.	.	.	.	.	.	.	.	1/1:31:31:255,93,0,.,.,.	2/2:32:32:.,.,.,.,.,0	1/1:27:27:255,81,0,.,.,.	.	.	1/1:53:53:255,160,0,.,.,.	1/1:45:45:255,135,0,.,.,.	ATCT	ATCTTCT,ATCCTCT	8	0	.	.	.	.		.	.	.	.	.	.	.	
L	15	23685936	.	T	TCCTGCTTCCGCATCTTCTCCC	222	PASS	GOLGA6L2	golgin A6 family-like 2	exonic	NM_001304388	.	nonframeshift insertion	GOLGA6L2:NM_001304388:exon8:c.1685_1686insGGGAGAAGATGCGGAAGCAGG:p.G562delinsGGEDAEAG	ENST00000312015.5,ENST00000567107.1,ENST00000345070.5	.	15q11.2	.	.	.	Score=0.901999;Name=chr15:29086391	Score=427;Name="1487681:CT-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=59,15,32,17;DP=175;HOB=0.5;ICB=1;IDV=2;IMF=0.0114286;MQ0F=0;MQ=59;MQSB=0.980975;SF=20;SGB=-0.693147;VDB=2.69215e-06	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:123:49:255,0,255	.	.	.	.	TCCTGCT	TCCTGCTTCCGCATCTTCTCCCCCTGCT	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	15	30906677	rs368731043	GCAGGACCAC	G	214.5	PASS	GOLGA8H	golgin A8 family, member H	exonic	NM_001282490	.	nonframeshift deletion	GOLGA8H:NM_001282490:exon19:c.1813_1821del:p.605_607del	ENST00000566740.1	.	15q13.2	.	.	.	Score=0.995161;Name=chr15:32681446	.	rs368731043	.	.	.	.	.	.	0.0018	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	0.248317,5.342	.	AC=3;AN=4;DP4=9,10,24,29;DP=81;HOB=0.5;ICB=1;IDV=13;IMF=0.382353;MQ0F=0;MQ=33;MQSB=0.996854;SF=4,20;SGB=-0.680642;VDB=0.0490476	GT:DP:DV:PL	.	.	.	.	0/1:31:12:234,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:41:41:255,123,0	.	.	.	.	GCAGGACCACCAGGA	GCAGGA	1	1	.	.	.	.		.	.	.	.	.	.	.	PM4
H	15	31521505	rs775822228	CGGG	C	128.24	PASS	LOC283710	uncharacterized LOC283710	exonic	NM_001243538	.	nonframeshift deletion	LOC283710:NM_001243538:exon2:c.74_76del:p.25_26del	ENST00000558388.2	.	15q13.3	.	.	.	.	.	rs775822228	.	.	.	.	.	.	0.0073	0.0076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=49,1;AN=50;DP4=3,3,699,325;DP=1561;IDV=59;IMF=0.808219;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.0181295	GT:DP:DV:PL	1/1:42:42:185,123,0,.,.,.	1/1:67:67:191,199,0,.,.,.	1/1:46:46:192,132,0,.,.,.	1/1:28:28:153,66,0,.,.,.	1/1:32:32:145,63,8,.,.,.	1/1:47:47:144,84,0,.,.,.	1/1:48:48:154,93,0,.,.,.	1/1:43:43:148,81,0,.,.,.	1/1:40:39:149,61,0,.,.,.	1/1:39:39:180,111,0,.,.,.	1/1:43:41:157,58,0,.,.,.	1/1:32:32:182,84,0,.,.,.	1/1:25:25:148,57,0,.,.,.	1/1:40:39:79,25,0,.,.,.	1/1:39:39:143,81,0,.,.,.	1/2:37:37:210,132,42,141,0,123	1/1:40:40:151,84,0,.,.,.	1/1:33:33:131,61,6,.,.,.	1/1:23:22:117,35,2,.,.,.	1/1:40:40:138,68,2,.,.,.	1/1:47:47:178,141,0,.,.,.	1/1:50:50:192,151,0,.,.,.	1/1:15:15:142,39,0,.,.,.	1/1:80:80:187,232,0,.,.,.	1/1:54:53:137,93,0,.,.,.	CGGGGGGGGGG	CGGGGGGGG,CGGGGGGG	24	1	.	.	.	.		.	.	.	.	.	.	.	PM4
L	15	31776210	.	T	TGGC	225.48	PASS	OTUD7A	OTU deubiquitinase 7A	exonic	NM_130901	.	nonframeshift insertion	OTUD7A:NM_130901:exon11:c.2067_2068insGCC:p.T690delinsAT	ENST00000307050.4,ENST00000382902.1	CpG: 158	15q13.3	.	.	Score=808;Name=V$PAX4_01	.	Score=281;Name="1501686:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	1.483608,10.91	.	AC=44,1;AN=50;DP4=150,16,1102,272;DP=1678;HOB=0.5;ICB=1;IDV=42;IMF=0.954545;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693146;VDB=0.00209069	GT:DP:DV:PL	1/1:43:43:255,129,0,.,.,.	1/1:65:65:255,196,0,.,.,.	1/1:92:92:255,255,0,.,.,.	1/1:58:58:255,172,0,.,.,.	0/1:48:20:255,0,255,.,.,.	1/1:99:99:255,255,0,.,.,.	1/1:59:59:255,178,0,.,.,.	1/1:63:63:255,190,0,.,.,.	0/1:45:17:255,0,255,.,.,.	1/1:25:25:255,75,0,.,.,.	0/1:65:29:255,0,255,.,.,.	1/1:11:11:255,33,0,.,.,.	1/1:56:56:255,166,0,.,.,.	1/1:90:90:255,255,0,.,.,.	1/2:75:74:255,255,255,255,0,255	1/1:43:43:255,129,0,.,.,.	1/1:52:52:255,157,0,.,.,.	1/1:59:59:255,175,0,.,.,.	1/1:54:54:255,157,0,.,.,.	0/1:53:30:255,0,255,.,.,.	1/1:58:58:255,175,0,.,.,.	0/1:119:69:255,0,255,.,.,.	1/1:23:23:255,66,0,.,.,.	1/1:89:89:255,255,0,.,.,.	1/1:96:96:255,255,0,.,.,.	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGC	19	6	OTU domain-containing protein 7A	.	.	.	17991829	.	.	.	.	.	.	.	
H	15	41099897	.	T	TGAGGG	65.5	PASS	ZFYVE19	zinc finger, FYVE domain containing 19	exonic	NM_001077268,NM_001258420	.	frameshift insertion	ZFYVE19:NM_001077268:exon1:c.110_111insGAGGG:p.V37fs,ZFYVE19:NM_001258420:exon1:c.110_111insGAGGG:p.V37fs	ENST00000336455.5,ENST00000570108.1,ENST00000355341.4,ENST00000563530.1,ENST00000299173.10,ENST00000564258.1	.	15q15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=28,12,33,3;DP=129;HOB=0.5;ICB=1;IDV=2;IMF=0.0289855;MQ0F=0;MQ=60;MQSB=1;SF=14,20;SGB=-0.686358;VDB=0.860887	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:14:87,0,255,.,.,.	.	.	.	.	.	0/2:29:22:113,.,.,0,.,149	.	.	.	.	TG	TGAGGGG,TGGGGGG	0	2	.	.	.	.		.	.	.	.	.	.	.	PM2
H	15	41099897	.	T	TGGGGG	65.5	PASS	ZFYVE19	zinc finger, FYVE domain containing 19	exonic	NM_001077268,NM_001258420	.	frameshift insertion	ZFYVE19:NM_001077268:exon1:c.110_111insGGGGG:p.V37fs,ZFYVE19:NM_001258420:exon1:c.110_111insGGGGG:p.V37fs	ENST00000336455.5,ENST00000570108.1,ENST00000355341.4,ENST00000563530.1,ENST00000299173.10,ENST00000564258.1	.	15q15.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00426136	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1;AN=4;DP4=28,12,33,3;DP=129;HOB=0.5;ICB=1;IDV=2;IMF=0.0289855;MQ0F=0;MQ=60;MQSB=1;SF=14,20;SGB=-0.686358;VDB=0.860887	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:47:14:87,0,255,.,.,.	.	.	.	.	.	0/2:29:22:113,.,.,0,.,149	.	.	.	.	TG	TGAGGGG,TGGGGGG	0	2	.	.	.	.		.	.	.	.	.	.	.	PM2
L	15	41099904	.	C	CGGGGG	228	PASS	ZFYVE19	zinc finger, FYVE domain containing 19	exonic	NM_001077268,NM_001258420	.	frameshift insertion	ZFYVE19:NM_001077268:exon1:c.117_118insGGGGG:p.G39fs,ZFYVE19:NM_001258420:exon1:c.117_118insGGGGG:p.G39fs	ENST00000336455.5,ENST00000570108.1,ENST00000355341.4,ENST00000563530.1,ENST00000299173.10,ENST00000564258.1	.	15q15.1	.	.	.	.	Score=180;Name="1516971:G-rich(Low_complexity)"	.	.	.	.	.	.	.	.	.	0.00142045	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=3,1,30,10;DP=68;IDV=2;IMF=0.0294118;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693145;VDB=0.0381856	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:44:40:255,32,0	.	.	.	.	CGGGG	CGGGGGGGGG	1	0	.	.	.	.		.	.	.	.	.	.	.	PM2
L	15	51017527	rs199570965	AAAAACAAAAC	A	153.07	PASS	SPPL2A	signal peptide peptidase like 2A	splicing	NM_032802	.	.	.	ENST00000559293.1,ENST00000261854.5	.	15q21.2	.	.	.	.	Score=317;Name="1536081:(CAAAA)n(Simple_repeat)"	rs199570965	.	.	.	.	.	0.0026	0.0015	0.0114	.	0.00434783	.	.	.	.	.	.	.	.	.	.	2.329295,13.75	.	AC=18,4;AN=30;DP4=1,18,2,66;DP=134;HOB=0.5;ICB=1;IDV=6;IMF=0.666667;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,6,7,8,10,11,15,17,19,20,21,22;SGB=-0.616816;VDB=0.015032	GT:DP:DV:PL	1/1:6:6:221,18,0,.,.,.	.	0/1:6:3:135,0,119,.,.,.	1/1:4:4:181,12,0,.,.,.	.	1/1:5:5:214,15,0,.,.,.	1/1:4:4:184,12,0,.,.,.	0/1:7:4:144,0,132,.,.,.	0/1:7:5:188,0,90,.,.,.	.	1/1:4:4:179,12,0,.,.,.	0/1:7:4:167,0,132,.,.,.	.	.	.	0/1:9:7:255,0,84,.,.,.	.	0/1:7:5:194,0,90,.,.,.	.	0/1:3:2:101,0,51,.,.,.	2/2:6:6:235,.,.,18,.,0	0/2:8:5:194,.,.,0,.,130	2/1:4:4:198,104,98,102,0,96	.	.	AAAAACAAAACAAAACAAAACAAAACAAAACAAAA	AAAAACAAAACAAAACAAAACAAAACAAAA,AAAAACAAAACAAAACAAAACAAAA	6	9	Signal peptide peptidase-like 2A	.	.	.	12139484	.	.	.	.	.	.	.	
L	15	78913067	rs771038104	A	ACAG	218.7	PASS	CHRNA3	cholinergic receptor, nicotinic, alpha 3 (neuronal)	exonic	NM_000743,NM_001166694	.	nonframeshift insertion	CHRNA3:NM_000743:exon1:c.69_70insCTG:p.S24delinsLS,CHRNA3:NM_001166694:exon1:c.69_70insCTG:p.S24delinsLS	ENST00000326828.5,ENST00000348639.3	CpG: 134	15q25.1	.	.	.	.	Score=231;Name="1591216:(CAG)n(Simple_repeat)"	rs771038104	.	.	.	.	.	.	0.0013	0.0299	0.0255682	0.0130435	.	.	.	.	.	.	.	.	.	.	0.870380,8.528	.	AC=40,1;AN=46;DP4=49,26,314,228;DP=751;HOB=0.5;ICB=1;IDV=32;IMF=0.941176;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,18,19,20,21,22,23;SGB=-0.693127;VDB=0.0286515	GT:DP:DV:PL	1/1:33:33:255,96,0,.,.,.	1/1:23:23:255,69,0,.,.,.	1/1:25:25:255,75,0,.,.,.	0/1:16:4:125,0,255,.,.,.	0/1:16:8:241,0,255,.,.,.	0/1:68:40:255,0,255,.,.,.	1/1:18:18:255,57,6,.,.,.	1/1:20:20:255,60,0,.,.,.	1/1:16:16:255,48,0,.,.,.	1/1:15:15:255,45,0,.,.,.	1/1:27:27:255,81,0,.,.,.	1/1:25:25:255,75,0,.,.,.	1/1:15:15:255,45,0,.,.,.	1/1:45:45:255,129,0,.,.,.	0/1:31:15:255,0,255,.,.,.	.	1/1:23:23:255,69,0,.,.,.	1/1:10:10:255,30,0,.,.,.	1/1:16:16:255,48,0,.,.,.	2/1:24:24:255,255,255,255,0,255	1/1:23:23:255,69,0,.,.,.	1/1:48:48:255,141,0,.,.,.	0/1:22:11:255,0,255,.,.,.	1/1:58:58:255,166,0,.,.,.	.	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC,ACAGCAGCAGCAGCAGCAGCAGCAGC	17	6	{Lung cancer susceptibility 2}, 612052 (3)	.	.	.	21659607|18385739|18385738|18385676|11721883|10935636|10318955|9921897|9009220|8906617|2336208|2004777|1989896|1689727|1572664|1505988	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;NICOTINIC_ACETYLCHOLINE_GATED_RECEPTOR_CHANNEL_COMPLEX;RECEPTOR_COMPLEX;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;EXCITATORY_EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;NEUROTRANSMITTER_BINDING;NEUROTRANSMITTER_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSMEMBRANE_RECEPTOR_ACTIVITY;LIGAND_GATED_CHANNEL_ACTIVITY;ACETYLCHOLINE_BINDING;EXTRACELLULAR_LIGAND_GATED_ION_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;AMINE_BINDING;NICOTINIC_ACETYLCHOLINE_ACTIVATED_CATION_SELECTIVE_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_NEUROTRANSMITTER_RECEPTOR_BINDING_AND_DOWNSTREAM_TRANSMISSION_IN_THE_POSTSYNAPTIC_CELL;REACTOME_ACETYLCHOLINE_BINDING_AND_DOWNSTREAM_EVENTS;REACTOME_HIGHLY_CALCIUM_PERMEABLE_POSTSYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS;REACTOME_PRESYNAPTIC_NICOTINIC_ACETYLCHOLINE_RECEPTORS	
H	15	81637357	rs372764254	G	GGA	28.82	PASS	TMC3	transmembrane channel-like 3	splicing	NM_001080532	NM_001080532:exon13:c.1273-5->TC	.	.	ENST00000558726.1,ENST00000359440.5,ENST00000559781.1,ENST00000560851.1	.	15q25.1	.	.	.	.	.	rs372764254	.	.	.	.	.	0.0238	0.0245	0.0078	.	0.00434783	.	.	.	.	.	.	.	.	.	.	-0.062058,3.698	.	AC=1,1,2;AN=8;DP4=35,58,13,16;DP=167;HOB=0.5;ICB=1;IDV=10;IMF=0.212766;MQ0F=0;MQ=60;MQSB=1;SF=5,6,20,21;SGB=-0.651104;VDB=0.0016082	GT:DP:DV:PL	.	.	.	.	.	0/3:35:8:71,.,.,.,.,.,0,.,.,255	0/2:26:7:69,.,.,0,.,255,.,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:4:56,0,255,.,.,.,.,.,.,.	0/3:41:10:62,.,.,.,.,.,0,.,.,255	.	.	.	GGAGAGAGAGAGAGAGAGAGAG	GGAGAGAGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAGAG	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	15	81637357	rs772866789	GGAGA	G	28.82	PASS	TMC3	transmembrane channel-like 3	splicing	NM_001080532	.	.	.	ENST00000558726.1,ENST00000359440.5,ENST00000559781.1,ENST00000560851.1	.	15q25.1	.	.	.	.	Score=195;Name="1596800:(GA)n(Simple_repeat)"	rs772866789	.	.	.	.	.	0.0210	0.0034	0.0013	0.00284091	.	.	.	.	.	.	.	.	.	.	.	0.025827,4.148	.	AC=1,1,2;AN=8;DP4=35,58,13,16;DP=167;HOB=0.5;ICB=1;IDV=10;IMF=0.212766;MQ0F=0;MQ=60;MQSB=1;SF=5,6,20,21;SGB=-0.651104;VDB=0.0016082	GT:DP:DV:PL	.	.	.	.	.	0/3:35:8:71,.,.,.,.,.,0,.,.,255	0/2:26:7:69,.,.,0,.,255,.,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:20:4:56,0,255,.,.,.,.,.,.,.	0/3:41:10:62,.,.,.,.,.,0,.,.,255	.	.	.	GGAGAGAGAGAGAGAGAGAGAG	GGAGAGAGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAG,GGAGAGAGAGAGAGAGAGAG	0	4	.	.	.	.		.	.	.	.	.	.	.	
L	15	100252709	.	CCAGCAGCAGCAG	C	211.33	PASS	MEF2A	myocyte enhancer factor 2A	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1035del:p.342_345del,MEF2A:NM_001130926:exon10:c.1228_1239del:p.410_413del,MEF2A:NM_001130927:exon10:c.1048_1059del:p.350_353del,MEF2A:NM_005587:exon11:c.1234_1245del:p.412_415del,MEF2A:NM_001171894:exon12:c.1228_1239del:p.410_413del	ENST00000557785.1,ENST00000354410.5,ENST00000557942.1,ENST00000338042.6,ENST00000558812.1,ENST00000453228.2,ENST00000449277.2	.	15q26.3	.	.	.	.	Score=306;Name="1630957:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.417886,14.04	.	AC=2,13,11,1,2;AN=42;DP4=225,78,412,199;DP=1139;HOB=0.5;ICB=1;IDV=55;IMF=0.797101;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,20,22,24;SGB=-0.693147;VDB=2.37027e-05	GT:DP:DV:PL	2/3:59:59:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:44:44:255,.,.,.,.,.,126,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:56:34:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:53:26:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	.	0/5:38:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/2:56:32:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:46:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:38:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:36:16:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/3:49:49:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,255,.,.,0,.,255	0/3:26:12:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/2:47:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:34:34:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/3:45:45:255,.,.,.,.,.,135,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:50:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:37:37:255,.,.,105,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:51:23:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	1/2:40:40:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:13:13:255,.,.,218,.,194,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/3:52:9:153,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGC	3	18	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)	.	.	.	24075010|20434996|18760698|18093911|16484498|16484497|16469744|15958500|15841183|15496429|15057983|14645853|14630949|12379849|11001066|10825161|10531066|8697817|8575763|8548800|8269842|8114702|1748287|1516833	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	NUCLEUS	.	.	PID_P38ALPHABETADOWNSTREAMPATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	PM2
L	15	100252709	.	CCAGCAGCAGCAGCAGCAGCAG	C	211.33	PASS	MEF2A	myocyte enhancer factor 2A	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1044del:p.342_348del,MEF2A:NM_001130926:exon10:c.1228_1248del:p.410_416del,MEF2A:NM_001130927:exon10:c.1048_1068del:p.350_356del,MEF2A:NM_005587:exon11:c.1234_1254del:p.412_418del,MEF2A:NM_001171894:exon12:c.1228_1248del:p.410_416del	ENST00000557785.1,ENST00000354410.5,ENST00000557942.1,ENST00000338042.6,ENST00000558812.1,ENST00000453228.2,ENST00000449277.2	.	15q26.3	.	.	.	.	Score=306;Name="1630957:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	.	.	.	.	.	.	.	2.348970,13.81	.	AC=2,13,11,1,2;AN=42;DP4=225,78,412,199;DP=1139;HOB=0.5;ICB=1;IDV=55;IMF=0.797101;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,20,22,24;SGB=-0.693147;VDB=2.37027e-05	GT:DP:DV:PL	2/3:59:59:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:44:44:255,.,.,.,.,.,126,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:56:34:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:53:26:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	.	0/5:38:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/2:56:32:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:46:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:38:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:36:16:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/3:49:49:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,255,.,.,0,.,255	0/3:26:12:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/2:47:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:34:34:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/3:45:45:255,.,.,.,.,.,135,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:50:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:37:37:255,.,.,105,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:51:23:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	1/2:40:40:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:13:13:255,.,.,218,.,194,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/3:52:9:153,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGC	3	18	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)	.	.	.	24075010|20434996|18760698|18093911|16484498|16484497|16469744|15958500|15841183|15496429|15057983|14645853|14630949|12379849|11001066|10825161|10531066|8697817|8575763|8548800|8269842|8114702|1748287|1516833	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	NUCLEUS	.	.	PID_P38ALPHABETADOWNSTREAMPATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	
L	15	100252709	rs772724940	CCAGCAGCAG	C	211.33	PASS	MEF2A	myocyte enhancer factor 2A	exonic	NM_001130926,NM_001130927,NM_001130928,NM_001171894,NM_005587	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1032del:p.342_344del,MEF2A:NM_001130926:exon10:c.1228_1236del:p.410_412del,MEF2A:NM_001130927:exon10:c.1048_1056del:p.350_352del,MEF2A:NM_005587:exon11:c.1234_1242del:p.412_414del,MEF2A:NM_001171894:exon12:c.1228_1236del:p.410_412del	ENST00000557785.1,ENST00000354410.5,ENST00000557942.1,ENST00000338042.6,ENST00000558812.1,ENST00000453228.2,ENST00000449277.2	.	15q26.3	.	.	.	.	Score=306;Name="1630957:(CAG)n(Simple_repeat)"	rs772724940	.	.	.	.	.	0.0141	0.0252	0.0061	.	0.0173913	.	.	.	.	.	.	.	.	.	.	2.438551,14.11	.	AC=2,13,11,1,2;AN=42;DP4=225,78,412,199;DP=1139;HOB=0.5;ICB=1;IDV=55;IMF=0.797101;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,8,9,10,11,12,13,14,15,16,17,18,20,22,24;SGB=-0.693147;VDB=2.37027e-05	GT:DP:DV:PL	2/3:59:59:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	3/3:44:44:255,.,.,.,.,.,126,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:56:34:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:44:19:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:53:26:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	.	0/5:38:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/2:56:32:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:46:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:38:26:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:36:16:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/3:49:49:255,.,.,.,.,.,255,.,.,255,.,.,.,.,.,255,.,.,0,.,255	0/3:26:12:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/2:47:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/3:34:34:255,255,255,.,.,.,255,0,.,255,.,.,.,.,.,.,.,.,.,.,.	3/3:45:45:255,.,.,.,.,.,135,.,.,0,.,.,.,.,.,.,.,.,.,.,.	0/2:50:23:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:37:37:255,.,.,105,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:51:23:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	1/2:40:40:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:13:13:255,.,.,218,.,194,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/3:52:9:153,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC,CCAGCAGCAGCAGC,CCAGCAGCAGCAGCAGCAGCAGCAGC	3	18	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)	.	.	.	24075010|20434996|18760698|18093911|16484498|16484497|16469744|15958500|15841183|15496429|15057983|14645853|14630949|12379849|11001066|10825161|10531066|8697817|8575763|8548800|8269842|8114702|1748287|1516833	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	NUCLEUS	.	.	PID_P38ALPHABETADOWNSTREAMPATHWAY	BIOCARTA_AT1R_PATHWAY;BIOCARTA_HDAC_PATHWAY;BIOCARTA_MAPK_PATHWAY;BIOCARTA_P38MAPK_PATHWAY;BIOCARTA_PGC1A_PATHWAY;BIOCARTA_ERK5_PATHWAY	REACTOME_SIGNALLING_BY_NGF;REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_TRIF_MEDIATED_TLR3_SIGNALING;REACTOME_NGF_SIGNALLING_VIA_TRKA_FROM_THE_PLASMA_MEMBRANE;REACTOME_NUCLEAR_EVENTS_KINASE_AND_TRANSCRIPTION_FACTOR_ACTIVATION;REACTOME_ERK_MAPK_TARGETS;REACTOME_MYOGENESIS;REACTOME_MAP_KINASE_ACTIVATION_IN_TLR_CASCADE;REACTOME_MAPK_TARGETS_NUCLEAR_EVENTS_MEDIATED_BY_MAP_KINASES;REACTOME_TRAF6_MEDIATED_INDUCTION_OF_NFKB_AND_MAP_KINASES_UPON_TLR7_8_OR_9_ACTIVATION;REACTOME_NFKB_AND_MAP_KINASES_ACTIVATION_MEDIATED_BY_TLR4_SIGNALING_REPERTOIRE;REACTOME_MYD88_MAL_CASCADE_INITIATED_ON_PLASMA_MEMBRANE;REACTOME_INNATE_IMMUNE_SYSTEM;REACTOME_ACTIVATED_TLR4_SIGNALLING;REACTOME_IMMUNE_SYSTEM;REACTOME_TOLL_RECEPTOR_CASCADES	
H	16	732285	.	AG	A	228	PASS	STUB1	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	splicing	NM_001293197,NM_005861	NM_001293197:exon6:c.570+5G>-;NM_005861:exon6:c.786+5G>-	.	.	ENST00000565677.1,ENST00000219548.4,ENST00000293882.4,ENST00000454700.1,ENST00000564370.1,ENST00000412368.2,ENST00000609261.1	CpG: 454	16p13.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=0,0,65,29;DP=119;IDV=2;IMF=0.0168067;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693147;VDB=0.468275	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:94:94:255,255,0	.	.	.	.	AGG	AG	1	0	Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)	.	.	.	25258038|24742043|24312598|24113144|22606257|20705837|20595578|18411298|18313385|16901789|16554822|15845543|15215316|12832480|12150907|11557750|10330192	BIOPOLYMER_CATABOLIC_PROCESS;PROTEIN_POLYUBIQUITINATION;PROTEIN_FOLDING;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;BIOPOLYMER_METABOLIC_PROCESS;REGULATION_OF_LIPID_METABOLIC_PROCESS;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;PROTEIN_MATURATION;STEROID_METABOLIC_PROCESS;CELLULAR_PROTEIN_CATABOLIC_PROCESS;REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;REGULATION_OF_PROTEIN_METABOLIC_PROCESS;CELLULAR_CATABOLIC_PROCESS;LIPID_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION;REGULATION_OF_CATABOLIC_PROCESS;PROTEIN_UBIQUITINATION;PROTEIN_CATABOLIC_PROCESS;PROTEOLYSIS;POSITIVE_REGULATION_OF_METABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;CELLULAR_LIPID_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY;POSITIVE_REGULATION_OF_CELLULAR_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;POSITIVE_REGULATION_OF_PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;POSITIVE_REGULATION_OF_CELLULAR_PROCESS;TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY;CATABOLIC_PROCESS;HORMONE_METABOLIC_PROCESS;REGULATION_OF_CELLULAR_PROTEIN_METABOLIC_PROCESS;UBIQUITIN_CYCLE	CYTOPLASM;MACROMOLECULAR_COMPLEX;PROTEIN_COMPLEX	ACID_AMINO_ACID_LIGASE_ACTIVITY;PROTEIN_DOMAIN_SPECIFIC_BINDING;LIGASE_ACTIVITY_FORMING_CARBON_NITROGEN_BONDS;LIGASE_ACTIVITY;SMAD_BINDING;ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY;PROTEIN_BINDING_BRIDGING;SMALL_PROTEIN_CONJUGATING_ENZYME_ACTIVITY;SMALL_CONJUGATING_PROTEIN_LIGASE_ACTIVITY;UBIQUITIN_PROTEIN_LIGASE_ACTIVITY	KEGG_UBIQUITIN_MEDIATED_PROTEOLYSIS	PID_ALPHASYNUCLEIN_PATHWAY	.	REACTOME_SIGNALING_BY_ERBB2;REACTOME_DOWNREGULATION_OF_TGF_BETA_RECEPTOR_SIGNALING;REACTOME_TGF_BETA_RECEPTOR_SIGNALING_ACTIVATES_SMADS;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM;REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION;REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION	PM2
H	16	4918913	rs547373689	C	CGTCT	222	PASS	UBN1	ubinuclein 1	splicing	NM_001079514,NM_001288656	NM_001079514:exon8:c.1181+9->GTCT;NM_001288656:exon8:c.1181+9->GTCT	.	.	ENST00000585857.1,ENST00000396658.4,ENST00000262376.6,ENST00000590769.1,ENST00000545171.1	.	16p13.3	.	.	.	.	.	rs547373689	.	.	.	.	.	0.0081	0.0065	0.0015	0.00142045	0.00869565	.	.	.	.	.	.	.	.	.	.	1.733275,11.76	.	AC=1;AN=2;DP4=10,7,6,4;DP=37;HOB=0.5;ICB=1;IDV=10;IMF=0.27027;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.670168;VDB=0.0314848	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:27:10:255,0,255	.	.	.	.	CGTCTGTCTGTCTGTCTGTCTGTCTGT	CGTCTGTCTGTCTGTCTGTCTGTCTGTCTGT	0	1	Ubinuclein 1	.	.	.	19029251|10725330|9521878	RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;TRANSCRIPTION_DNA_DEPENDENT;RNA_BIOSYNTHETIC_PROCESS;REGULATION_OF_TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_CELLULAR_METABOLIC_PROCESS;REGULATION_OF_GENE_EXPRESSION;REGULATION_OF_TRANSCRIPTIONDNA_DEPENDENT;TRANSCRIPTION;REGULATION_OF_METABOLIC_PROCESS;REGULATION_OF_NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;REGULATION_OF_RNA_METABOLIC_PROCESS;TRANSCRIPTION_FROM_RNA_POLYMERASE_II_PROMOTER;REGULATION_OF_TRANSCRIPTION	NUCLEUS	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	.	.	.	.	
L	16	12009530	.	C	CCCGCCGCCG	201.53	PASS	GSPT1	G1 to S phase transition 1	exonic	NM_001130006,NM_002094	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.47_48insCGGCGGCGG:p.G16delinsGGGG,GSPT1:NM_002094:exon1:c.47_48insCGGCGGCGG:p.G16delinsGGGG	ENST00000420576.2,ENST00000439887.2,ENST00000583357.1,ENST00000434724.2	CpG: 131	16p13.13	.	.	.	.	Score=354;Name="1660397:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0304348	.	.	.	.	.	.	.	.	.	.	.	.	AC=13,3,1,1,2;AN=36;DP4=150,157,168,284;DP=1231;HOB=0.5;ICB=1;IDV=24;IMF=0.444444;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,7,8,9,10,12,13,14,18,19,20,21,23;SGB=-0.692831;VDB=0.00761552	GT:DP:DV:PL	0/1:36:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:37:21:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/1:64:31:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:36:16:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:46:41:255,0,73,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:53:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:35:18:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:12:255,0,224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:40:21:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:48:6:74,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:71:66:255,0,33,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:39:22:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	.	.	0/5:32:6:140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:57:30:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:32:31:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:39:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	0	18	G1 to S phase transition-1	.	.	.	16777602|16582619|9712840|9154815|2841115|2511002|1574740	BIOPOLYMER_CATABOLIC_PROCESS;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTERPHASE;CELL_CYCLE_PROCESS;CELLULAR_CATABOLIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CELL_CYCLE_GO_0007049;MRNA_METABOLIC_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;CATABOLIC_PROCESS;RNA_CATABOLIC_PROCESS;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	TRANSLATION_REGULATOR_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;TRANSLATION_FACTOR_ACTIVITY_NUCLEIC_ACID_BINDING;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	
L	16	12009530	.	C	CCCGCCGCCGCCGCCG	201.53	PASS	GSPT1	G1 to S phase transition 1	exonic	NM_001130006,NM_002094	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.47_48insCGGCGGCGGCGGCGG:p.G16delinsGGGGGG,GSPT1:NM_002094:exon1:c.47_48insCGGCGGCGGCGGCGG:p.G16delinsGGGGGG	ENST00000420576.2,ENST00000439887.2,ENST00000583357.1,ENST00000434724.2	CpG: 131	16p13.13	.	.	.	.	Score=354;Name="1660397:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=13,3,1,1,2;AN=36;DP4=150,157,168,284;DP=1231;HOB=0.5;ICB=1;IDV=24;IMF=0.444444;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,7,8,9,10,12,13,14,18,19,20,21,23;SGB=-0.692831;VDB=0.00761552	GT:DP:DV:PL	0/1:36:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:37:21:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/1:64:31:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:36:16:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:46:41:255,0,73,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:53:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:35:18:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:12:255,0,224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:40:21:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:48:6:74,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:71:66:255,0,33,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:39:22:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	.	.	0/5:32:6:140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:57:30:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:32:31:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:39:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	0	18	G1 to S phase transition-1	.	.	.	16777602|16582619|9712840|9154815|2841115|2511002|1574740	BIOPOLYMER_CATABOLIC_PROCESS;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTERPHASE;CELL_CYCLE_PROCESS;CELLULAR_CATABOLIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CELL_CYCLE_GO_0007049;MRNA_METABOLIC_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;CATABOLIC_PROCESS;RNA_CATABOLIC_PROCESS;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	TRANSLATION_REGULATOR_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;TRANSLATION_FACTOR_ACTIVITY_NUCLEIC_ACID_BINDING;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	PM2
L	16	12009530	.	C	CCCGCCGCCGCCG	201.53	PASS	GSPT1	G1 to S phase transition 1	exonic	NM_001130006,NM_002094	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.47_48insCGGCGGCGGCGG:p.G16delinsGGGGG,GSPT1:NM_002094:exon1:c.47_48insCGGCGGCGGCGG:p.G16delinsGGGGG	ENST00000420576.2,ENST00000439887.2,ENST00000583357.1,ENST00000434724.2	CpG: 131	16p13.13	.	.	.	.	Score=354;Name="1660397:(CCG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=13,3,1,1,2;AN=36;DP4=150,157,168,284;DP=1231;HOB=0.5;ICB=1;IDV=24;IMF=0.444444;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,6,7,8,9,10,12,13,14,18,19,20,21,23;SGB=-0.692831;VDB=0.00761552	GT:DP:DV:PL	0/1:36:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:37:21:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.	0/1:64:31:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:36:16:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:46:41:255,0,73,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:53:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:35:18:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:32:32:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:20:12:255,0,224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:40:21:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:48:6:74,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:71:66:255,0,33,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:39:22:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	.	.	0/5:32:6:140,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,255	0/1:57:30:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/1:32:31:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:24:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:39:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC,CCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	0	18	G1 to S phase transition-1	.	.	.	16777602|16582619|9712840|9154815|2841115|2511002|1574740	BIOPOLYMER_CATABOLIC_PROCESS;RNA_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;INTERPHASE;CELL_CYCLE_PROCESS;CELLULAR_CATABOLIC_PROCESS;MITOTIC_CELL_CYCLE;CELL_CYCLE_PHASE;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CELL_CYCLE_GO_0007049;MRNA_METABOLIC_PROCESS;INTERPHASE_OF_MITOTIC_CELL_CYCLE;CATABOLIC_PROCESS;RNA_CATABOLIC_PROCESS;G1_S_TRANSITION_OF_MITOTIC_CELL_CYCLE	.	TRANSLATION_REGULATOR_ACTIVITY;HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;NUCLEOSIDE_TRIPHOSPHATASE_ACTIVITY;TRANSLATION_FACTOR_ACTIVITY_NUCLEIC_ACID_BINDING;GTPASE_ACTIVITY;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	
H	16	57847634	rs56192221	A	ATGCAGGTG	226.62	PASS	LOC388282	uncharacterized LOC388282	exonic	NM_001278081	.	frameshift insertion	LOC388282:NM_001278081:exon2:c.137_138insTGCAGGTG:p.Q46fs	ENST00000564282.1	.	16q21	.	.	.	.	.	rs56192221	.	.	.	.	.	.	.	.	.	0.121739	.	.	.	.	.	.	.	.	.	.	0.282874,5.531	.	AC=43;AN=48;DP4=87,43,737,307;DP=1292;HOB=0.5;ICB=1;IDV=19;IMF=0.316667;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.692067;VDB=0.00127033	GT:DP:DV:PL	0/1:54:20:255,0,255	0/1:37:13:255,0,255	1/1:38:38:255,114,0	1/1:38:38:255,114,0	1/1:40:40:255,120,0	1/1:72:72:255,217,0	1/1:56:56:255,169,0	1/1:58:58:255,175,0	1/1:39:39:255,117,0	1/1:40:39:255,88,0	1/1:56:56:255,169,0	1/1:37:37:255,111,0	.	1/1:62:62:255,187,0	1/1:56:56:255,169,0	0/1:42:16:255,0,255	1/1:37:37:255,111,0	0/1:45:40:255,0,11	1/1:37:37:255,111,0	0/1:61:21:255,0,255	1/1:44:44:255,132,0	1/1:58:58:255,175,0	1/1:22:22:255,66,0	1/1:87:87:255,255,0	1/1:58:58:255,175,0	A	ATGCAGGTG	19	5	.	.	.	.		.	.	.	.	.	.	.	
H	16	67229793	rs764449327	A	ACAG	134.33	PASS	E2F4	E2F transcription factor 4, p107/p130-binding	exonic	NM_001950	.	nonframeshift insertion	E2F4:NM_001950:exon7:c.917_918insCAG:p.D306delinsDS	ENST00000379378.3	.	16q22.1	.	.	.	.	.	rs764449327	.	.	.	.	.	0.0188	0.0301	0.0306	.	0.0217391	.	.	.	.	.	.	.	.	.	.	2.480474,14.25	.	AC=17,1,1;AN=38;DP4=552,291,110,115;DP=1620;HOB=0.5;ICB=1;IDV=7;IMF=0.0886076;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,11,12,13,15,18,20,21,22,23,24;SGB=-0.636426;VDB=0.0133953	GT:DP:DV:PL	0/1:45:7:155,0,255,.,.,.,.,.,.,.	0/1:48:8:176,0,255,.,.,.,.,.,.,.	.	0/1:63:13:255,0,255,.,.,.,.,.,.,.	0/1:36:5:76,0,255,.,.,.,.,.,.,.	0/1:103:18:255,0,255,.,.,.,.,.,.,.	0/1:56:10:192,0,255,.,.,.,.,.,.,.	0/1:61:12:233,0,255,.,.,.,.,.,.,.	0/1:56:13:255,0,255,.,.,.,.,.,.,.	0/1:46:5:60,0,255,.,.,.,.,.,.,.	.	0/1:50:6:113,0,255,.,.,.,.,.,.,.	0/3:57:29:255,.,.,.,.,.,0,.,.,255	0/1:59:7:76,0,255,.,.,.,.,.,.,.	.	0/1:40:4:62,0,255,.,.,.,.,.,.,.	.	.	0/1:36:7:218,0,255,.,.,.,.,.,.,.	.	0/2:64:39:255,.,.,0,.,255,.,.,.,.	0/1:88:11:86,0,255,.,.,.,.,.,.,.	0/1:22:8:232,0,255,.,.,.,.,.,.,.	0/1:73:16:209,0,255,.,.,.,.,.,.,.	0/1:65:7:72,0,255,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	0	19	E2F transcription factor 4, p107/p130-binding	.	.	.	23222641|12150994|12110166|11511364|11030352|10983977|10983976|7958924|7892279	.	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_CELL_CYCLE;KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_SMAD2_3NUCLEARPATHWAY;PID_E2F_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_ETS_PATHWAY	REACTOME_G0_AND_EARLY_G1;REACTOME_CELL_CYCLE;REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PM4
H	16	67229793	.	A	ACAGCAG	134.33	PASS	E2F4	E2F transcription factor 4, p107/p130-binding	exonic	NM_001950	.	nonframeshift insertion	E2F4:NM_001950:exon7:c.917_918insCAGCAG:p.D306delinsDSS	ENST00000379378.3	.	16q22.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	2.480349,14.25	.	AC=17,1,1;AN=38;DP4=552,291,110,115;DP=1620;HOB=0.5;ICB=1;IDV=7;IMF=0.0886076;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,7,8,9,11,12,13,15,18,20,21,22,23,24;SGB=-0.636426;VDB=0.0133953	GT:DP:DV:PL	0/1:45:7:155,0,255,.,.,.,.,.,.,.	0/1:48:8:176,0,255,.,.,.,.,.,.,.	.	0/1:63:13:255,0,255,.,.,.,.,.,.,.	0/1:36:5:76,0,255,.,.,.,.,.,.,.	0/1:103:18:255,0,255,.,.,.,.,.,.,.	0/1:56:10:192,0,255,.,.,.,.,.,.,.	0/1:61:12:233,0,255,.,.,.,.,.,.,.	0/1:56:13:255,0,255,.,.,.,.,.,.,.	0/1:46:5:60,0,255,.,.,.,.,.,.,.	.	0/1:50:6:113,0,255,.,.,.,.,.,.,.	0/3:57:29:255,.,.,.,.,.,0,.,.,255	0/1:59:7:76,0,255,.,.,.,.,.,.,.	.	0/1:40:4:62,0,255,.,.,.,.,.,.,.	.	.	0/1:36:7:218,0,255,.,.,.,.,.,.,.	.	0/2:64:39:255,.,.,0,.,255,.,.,.,.	0/1:88:11:86,0,255,.,.,.,.,.,.,.	0/1:22:8:232,0,255,.,.,.,.,.,.,.	0/1:73:16:209,0,255,.,.,.,.,.,.,.	0/1:65:7:72,0,255,.,.,.,.,.,.,.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	0	19	E2F transcription factor 4, p107/p130-binding	.	.	.	23222641|12150994|12110166|11511364|11030352|10983977|10983976|7958924|7892279	.	.	TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_CELL_CYCLE;KEGG_TGF_BETA_SIGNALING_PATHWAY	PID_SMAD2_3NUCLEARPATHWAY;PID_E2F_PATHWAY;PID_RB_1PATHWAY	BIOCARTA_ETS_PATHWAY	REACTOME_G0_AND_EARLY_G1;REACTOME_CELL_CYCLE;REACTOME_SMAD2_SMAD3_SMAD4_HETEROTRIMER_REGULATES_TRANSCRIPTION;REACTOME_TRANSCRIPTIONAL_ACTIVITY_OF_SMAD2_SMAD3_SMAD4_HETEROTRIMER;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_CELL_CYCLE_MITOTIC;REACTOME_G1_PHASE;REACTOME_MITOTIC_G1_G1_S_PHASES;REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX	PM4
H	16	71956592	rs75418123	A	AAGTGTG	226.52	PASS	IST1	increased sodium tolerance 1 homolog (yeast)	splicing	NM_001270975,NM_001270976,NM_001270977,NM_001270978,NM_001270979,NM_014761	NM_001270975:exon7:c.759+9->AGTGTG;NM_001270976:exon8:c.798+9->AGTGTG;NM_001270977:exon7:c.759+9->AGTGTG;NM_001270978:exon4:c.315+9->AGTGTG;NM_001270979:exon3:c.315+9->AGTGTG;NM_014761:exon7:c.759+9->AGTGTG	.	.	ENST00000544564.1,ENST00000606369.1,ENST00000378799.6,ENST00000538850.1,ENST00000535424.1,ENST00000378798.5,ENST00000329908.8,ENST00000538565.1,ENST00000541571.2,ENST00000567146.1	.	16q22.2	.	.	Score=925;Name=V$NKX3A_01	.	.	rs75418123	.	.	.	.	.	.	.	.	0.196023	0.156522	.	.	.	.	.	.	.	.	.	.	2.247065,13.47	.	AC=37;AN=42;DP4=106,192,378,660;DP=1710;HOB=0.5;ICB=1;IDV=48;IMF=0.369231;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,5,6,8,9,10,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693145;VDB=1.39852e-05	GT:DP:DV:PL	1/1:41:41:255,123,0	1/1:36:36:255,108,0	.	1/1:57:57:255,172,0	1/1:57:57:255,172,0	1/1:49:49:255,148,0	1/1:87:87:255,255,0	.	0/1:105:34:255,0,255	0/1:86:30:255,0,255	0/1:95:38:255,0,255	.	.	1/1:76:76:255,229,0	1/1:53:53:255,160,0	1/1:40:40:255,120,0	1/1:80:80:255,241,0	1/1:55:55:255,166,0	0/1:66:27:255,0,255	1/1:32:32:255,96,0	1/1:83:83:255,250,0	0/1:118:43:255,0,255	1/1:15:15:255,45,0	1/1:54:54:255,163,0	1/1:51:51:255,154,0	A	AAGTGTG	16	5	Increased sodium tolerance 1, yeast, homolog of	.	.	.	20719964|19129480|19129479|8724849	.	CYTOPLASMIC_PART;CYTOPLASM;ER_GOLGI_INTERMEDIATE_COMPARTMENT	.	.	.	.	.	
H	16	88599699	rs149145771	CCTCTGG	C	227.52	PASS	ZFPM1	zinc finger protein, FOG family member 1	exonic	NM_153813	.	nonframeshift deletion	ZFPM1:NM_153813:exon10:c.1334_1339del:p.445_447del	ENST00000319555.3	CpG: 167	16q24.2	.	.	.	.	.	rs149145771	.	.	.	.	.	.	0	0	0.323864	0.191304	.	.	.	.	.	.	.	.	.	.	-0.357328,2.314	.	AC=48;AN=50;DP4=28,41,472,638;DP=1270;HOB=0.5;ICB=1;IDV=42;IMF=1;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693143;VDB=0.131168	GT:DP:DV:PL	1/1:38:38:255,114,0	1/1:45:45:255,135,0	1/1:54:54:255,163,0	1/1:40:40:255,120,0	1/1:46:46:255,138,0	1/1:80:80:255,241,0	1/1:35:35:255,105,0	0/1:66:30:255,0,255	1/1:36:36:255,108,0	1/1:35:35:255,105,0	1/1:43:43:255,129,0	1/1:23:23:255,69,0	1/1:51:51:255,154,0	1/1:54:54:255,163,0	1/1:68:68:255,205,0	1/1:41:41:255,123,0	1/1:42:42:255,126,0	1/1:26:26:255,78,0	1/1:39:39:255,117,0	1/1:51:51:255,154,0	1/1:43:43:255,129,0	1/1:76:76:255,229,0	1/1:22:22:255,66,0	0/1:64:31:255,0,255	1/1:61:61:255,184,0	CCTCTGGC	CC	23	2	Zinc finger protein, multitype 1 (friend of GATA1)	.	.	.	14656885|12483298|10700180|10078204|9230307	.	.	.	.	PID_HDAC_CLASSI_PATHWAY;PID_CMYB_PATHWAY	.	REACTOME_FACTORS_INVOLVED_IN_MEGAKARYOCYTE_DEVELOPMENT_AND_PLATELET_PRODUCTION;REACTOME_HEMOSTASIS	PM4
L	16	88780633	.	CAGGTGT	C	227.57	PASS	CTU2	cytosolic thiouridylase subunit 2 homolog (S. pombe)	exonic	NM_001012759,NM_001012762	.	frameshift deletion	CTU2:NM_001012759:exon10:c.1096_1097del:p.R366fs,CTU2:NM_001012762:exon10:c.1096_1097del:p.R366fs	ENST00000312060.5,ENST00000378384.3,ENST00000567949.1,ENST00000453996.2	.	16q24.3	.	.	Score=738;Name=V$NRSF_01	.	Score=265;Name="1801983:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	0.00284091	0.00434783	.	.	.	.	.	.	.	.	.	.	3.222558,16.80	.	AC=27;AN=28;DP4=49,48,457,355;DP=1191;HOB=0.5;ICB=1;IDV=2;IMF=0.0434783;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,4,5,9,11,12,13,14,15,16,19,20;SGB=-0.693139;VDB=0.180347	GT:DP:DV:PL	1/1:38:36:255,66,0	1/1:49:45:255,35,0	1/1:81:76:255,86,0	.	1/1:44:44:255,132,0	1/1:102:91:255,46,0	.	.	.	1/1:52:50:255,92,0	.	1/1:60:55:255,38,0	0/1:62:30:255,0,255	1/1:126:111:255,56,0	1/1:91:83:255,47,0	1/1:43:41:255,68,0	1/1:57:53:255,71,0	.	.	1/1:52:49:255,72,0	1/1:52:48:255,43,0	.	.	.	.	CAGGTGT	C	13	1	.	.	.	.		.	.	.	.	.	.	.	
L	17	7750177	rs779500270	T	TACCACCACC	202.76	PASS	KDM6B	lysine (K)-specific demethylase 6B	exonic	NM_001080424	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.752_753insACCACCACC:p.L251delinsLPPP	ENST00000448097.2,ENST00000254846.5	.	17p13.1	.	.	.	.	Score=414;Name="1821798:(CCA)n(Simple_repeat)"	rs779500270	.	.	.	.	.	.	0.0139	0.0124	.	0.134783	.	.	.	.	.	.	.	.	.	.	0.780773,8.120	.	AC=27,8,9,4,1;AN=50;DP4=5,4,42,349;DP=1280;HOB=0.5;ICB=1;IDV=6;IMF=0.230769;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.104392	GT:DP:DV:PL	2/1:7:6:253,125,133,121,0,129,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:12:255,195,184,224,0,218,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:26:26:255,.,.,.,.,.,78,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/4:11:11:255,97,76,.,.,.,.,.,.,.,245,0,.,.,233,.,.,.,.,.,.	1/4:16:16:255,252,231,.,.,.,.,.,.,.,251,0,.,.,224,.,.,.,.,.,.	2/1:18:18:255,255,255,192,0,150,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:255,49,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:14:255,89,69,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255	1/1:10:10:255,52,25,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:14:14:255,42,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:255,44,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:20:20:255,.,.,252,.,234,.,.,.,.,230,.,0,.,197,.,.,.,.,.,.	3/1:23:23:255,255,255,.,.,.,182,0,.,125,.,.,.,.,.,.,.,.,.,.,.	3/3:34:34:255,.,.,.,.,.,99,.,.,0,.,.,.,.,.,.,.,.,.,.,.	3/1:15:15:255,255,255,.,.,.,145,0,.,112,.,.,.,.,.,.,.,.,.,.,.	3/1:19:19:255,255,255,.,.,.,105,0,.,60,.,.,.,.,.,.,.,.,.,.,.	3/1:15:15:255,255,255,.,.,.,144,0,.,114,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,140,163,140,0,163,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:253,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:22:22:255,.,.,255,.,255,234,.,0,189,.,.,.,.,.,.,.,.,.,.,.	2/1:16:16:255,255,255,251,0,224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:21:20:255,.,.,255,.,255,.,.,.,.,239,.,0,.,224,.,.,.,.,.,.	1/1:9:9:255,57,33,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:26:22:255,0,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TACCACCACCACCACCACCACCACCACCACCACCACCACC	TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACCACCACC	9	16	Lysine-specific demethylase 6B	.	.	.	22842901|18628393|17851529|17713478|17178841|10662545	.	.	.	.	.	.	.	
L	17	7750177	rs771743551	T	TACC	202.76	PASS	KDM6B	lysine (K)-specific demethylase 6B	exonic	NM_001080424	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.752_753insACC:p.L251delinsLP	ENST00000448097.2,ENST00000254846.5	.	17p13.1	.	.	.	.	Score=414;Name="1821798:(CCA)n(Simple_repeat)"	rs771743551	.	.	.	.	.	.	0.0308	0.0060	.	0.0130435	.	.	.	.	.	.	.	.	.	.	0.832754,8.359	.	AC=27,8,9,4,1;AN=50;DP4=5,4,42,349;DP=1280;HOB=0.5;ICB=1;IDV=6;IMF=0.230769;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.616816;VDB=0.104392	GT:DP:DV:PL	2/1:7:6:253,125,133,121,0,129,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:12:255,195,184,224,0,218,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/3:26:26:255,.,.,.,.,.,78,.,.,0,.,.,.,.,.,.,.,.,.,.,.	1/4:11:11:255,97,76,.,.,.,.,.,.,.,245,0,.,.,233,.,.,.,.,.,.	1/4:16:16:255,252,231,.,.,.,.,.,.,.,251,0,.,.,224,.,.,.,.,.,.	2/1:18:18:255,255,255,192,0,150,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:255,49,22,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:14:255,89,69,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255	1/1:10:10:255,52,25,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:14:14:255,42,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:255,44,26,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:20:20:255,.,.,252,.,234,.,.,.,.,230,.,0,.,197,.,.,.,.,.,.	3/1:23:23:255,255,255,.,.,.,182,0,.,125,.,.,.,.,.,.,.,.,.,.,.	3/3:34:34:255,.,.,.,.,.,99,.,.,0,.,.,.,.,.,.,.,.,.,.,.	3/1:15:15:255,255,255,.,.,.,145,0,.,112,.,.,.,.,.,.,.,.,.,.,.	3/1:19:19:255,255,255,.,.,.,105,0,.,60,.,.,.,.,.,.,.,.,.,.,.	3/1:15:15:255,255,255,.,.,.,144,0,.,114,.,.,.,.,.,.,.,.,.,.,.	1/2:9:8:255,140,163,140,0,163,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:7:7:253,21,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:22:22:255,.,.,255,.,255,234,.,0,189,.,.,.,.,.,.,.,.,.,.,.	2/1:16:16:255,255,255,251,0,224,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:21:20:255,.,.,255,.,255,.,.,.,.,239,.,0,.,224,.,.,.,.,.,.	1/1:9:9:255,57,33,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:26:22:255,0,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TACCACCACCACCACCACCACCACCACCACCACCACCACC	TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACC,TACCACCACCACCACCACCACCACCACCACCACCACCACCACC	9	16	Lysine-specific demethylase 6B	.	.	.	22842901|18628393|17851529|17713478|17178841|10662545	.	.	.	.	.	.	.	
H	17	11881815	rs144680153	AGTT	A	222	PASS	ZNF18	zinc finger protein 18	exonic	NM_001303281,NM_001303282,NM_144680	.	nonframeshift deletion	ZNF18:NM_001303281:exon7:c.1106_1108del:p.369_370del,ZNF18:NM_001303282:exon7:c.1103_1105del:p.368_369del,ZNF18:NM_144680:exon9:c.1106_1108del:p.369_370del	ENST00000580306.2,ENST00000454073.3,ENST00000322748.3	.	17p12	.	.	Score=864;Name=V$RORA1_01	.	.	rs144680153	.	.	0.00332226	0.006	0.00119808	0.0017	0.0008	0.0068	0.00382848235835	0.00480769233173	.	.	.	.	.	.	.	.	.	.	2.026358,12.73	.	AC=3;AN=6;DP4=38,33,39,43;DP=199;HOB=0.5;ICB=1;IDV=21;IMF=0.381818;MQ0F=0;MQ=60;MQSB=1;SF=6,20,23;SGB=-0.692717;VDB=0.658645	GT:DP:DV:PL	.	.	.	.	.	.	0/1:46:23:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:42:27:255,0,255	.	.	0/1:65:32:255,0,255	.	AGTTGTT	AGTT	0	3	Zinc finger protein-18 (KOX11)	.	.	.	8262519|2014798	.	.	.	.	.	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY	PM4
H	17	12903598	rs201830045	G	GGAGA	222	PASS	ELAC2	elaC ribonuclease Z 2	splicing	NM_001165962,NM_018127,NM_173717	NM_001165962:exon14:c.1185-7->TCTC;NM_018127:exon15:c.1305-7->TCTC;NM_173717:exon15:c.1302-7->TCTC	.	.	ENST00000426905.3,ENST00000395962.2,ENST00000338034.4	.	17p12	.	.	.	.	.	rs201830045	CLINSIG=Benign;CLNDBN=Combined_oxidative_phosphorylation_deficiency_17;CLNACC=RCV000206377.1;CLNDSDB=MedGen:OMIM:ORPHA;CLNDSDBID=C3809526:615440:369913	.	.	.	.	.	.	.	0.03125	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=3;AN=6;DP4=30,10,33,28;DP=124;HOB=0.5;ICB=1;IDV=23;IMF=0.522727;MQ0F=0;MQ=60;MQSB=1;SF=1,7,20;SGB=-0.692562;VDB=0.071656	GT:DP:DV:PL	.	0/1:36:22:255,0,255	.	.	.	.	.	0/1:36:22:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	0/1:29:17:255,0,255	.	.	.	.	G	GGAGA	0	3	{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3); Combined oxidative phosphorylation deficiency 17, 615440 (3)	.	.	.	23849775|21593607|21559454|12522685|12515253|12384782|11522646|11507049|11254449|11254448|11175785|10986046|10848491	.	.	.	.	.	.	.	BP6
L	17	39471774	.	GCAGCCAGAGCCCCCA	G	221	PASS	KRTAP17-1	keratin associated protein 17-1	exonic	NM_031964	.	nonframeshift deletion	KRTAP17-1:NM_031964:exon1:c.114_128del:p.38_43del	ENST00000334202.3	.	17q21.2	.	.	Score=865;Name=V$SPZ1_01	.	Score=206;Name="1882694:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=24,7,10,4;DP=58;HOB=0.5;ICB=1;IDV=2;IMF=0.0338983;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.686358;VDB=0.130703	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:45:14:255,0,255	.	.	.	.	GCAGCCAGAGCCCCCACAGCCA	GCAGCCA	0	1	.	.	.	.		.	.	.	.	.	.	.	PM2
L	17	48777220	rs774926022	GTCA	G	161.36	PASS	ANKRD40	ankyrin repeat domain 40	exonic	NM_052855	.	nonframeshift deletion	ANKRD40:NM_052855:exon3:c.315_317del:p.105_106del	ENST00000285243.6	.	17q21.33	.	.	.	.	Score=207;Name="1903611:(CAT)n(Simple_repeat)"	rs774926022	.	.	.	.	.	0.0129	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	2.589628,14.62	.	AC=1,2;AN=6;DP4=23,34,12,14;DP=111;HOB=0.5;ICB=1;IDV=7;IMF=0.225806;MQ0F=0;MQ=60;MQSB=1;SF=3,5,20;SGB=-0.676189;VDB=0.000113111	GT:DP:DV:PL	.	.	.	0/2:23:11:255,.,.,0,.,255	.	0/1:38:5:77,0,255,.,.,.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/2:22:10:255,.,.,0,.,255	.	.	.	.	GTCATCATCATCATCATCATCATC	GTCATCATCATCATCATCATC,GTCATCATCATCATCATCATCATCATC	0	3	.	.	.	.		.	.	.	.	.	.	.	
H	17	56321451	rs745495653	G	GAC	108.88	PASS	LPO	lactoperoxidase	splicing	NM_006151	NM_006151:exon3:c.164+9->AC	.	.	ENST00000582328.1,ENST00000543544.1,ENST00000262290.4,ENST00000421678.2	.	17q22	.	.	.	.	.	rs745495653	.	.	.	.	.	.	0.0378	0.0236	.	0.0652174	.	.	.	.	.	.	.	.	.	.	1.543605,11.11	.	AC=3,4,2,4,3;AN=30;DP4=5,70,10,124;DP=502;HOB=0.5;ICB=1;IDV=11;IMF=0.392857;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,7,11,13,14,16,17,18,19,20,23;SGB=-0.651104;VDB=0.0112569	GT:DP:DV:PL	0/2:14:8:59,.,.,0,.,103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:7:98,.,.,.,.,.,16,.,.,46,.,.,.,.,.,.,.,.,.,.,.	0/5:14:10:82,.,.,.,.,.,.,.,.,.,.,.,.,.,.,8,.,.,.,.,66	0/4:16:7:203,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	0/2:22:16:159,.,.,19,.,82,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:17:11:255,.,.,.,.,.,.,.,.,.,0,.,.,.,136,.,.,.,.,.,.	.	.	.	0/2:16:10:113,.,.,0,.,107,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:11:201,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:9:153,0,61,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:13:6:144,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,95	0/5:6:4:104,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,41	0/3:11:5:69,.,.,.,.,.,0,.,.,104,.,.,.,.,.,.,.,.,.,.,.	0/2:16:8:127,.,.,0,.,130,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:17:16:255,255,255,.,.,.,.,.,.,.,111,0,.,.,111,.,.,.,.,.,.	.	.	0/4:11:6:183,.,.,.,.,.,.,.,.,.,0,.,.,.,68,.,.,.,.,.,.	.	GACACACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACACACACAC	0	15	Lactoperoxidase	.	.	.	9030719|2222811	.	.	.	.	.	.	.	
H	17	56321451	rs745495653	G	GACAC	108.88	PASS	LPO	lactoperoxidase	splicing	NM_006151	NM_006151:exon3:c.164+9->ACAC	.	.	ENST00000582328.1,ENST00000543544.1,ENST00000262290.4,ENST00000421678.2	.	17q22	.	.	.	.	.	rs745495653	.	.	.	.	.	.	0.0187	0.0148	.	0.0695652	.	.	.	.	.	.	.	.	.	.	1.526278,11.06	.	AC=3,4,2,4,3;AN=30;DP4=5,70,10,124;DP=502;HOB=0.5;ICB=1;IDV=11;IMF=0.392857;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,5,7,11,13,14,16,17,18,19,20,23;SGB=-0.651104;VDB=0.0112569	GT:DP:DV:PL	0/2:14:8:59,.,.,0,.,103,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:7:98,.,.,.,.,.,16,.,.,46,.,.,.,.,.,.,.,.,.,.,.	0/5:14:10:82,.,.,.,.,.,.,.,.,.,.,.,.,.,.,8,.,.,.,.,66	0/4:16:7:203,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	0/2:22:16:159,.,.,19,.,82,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:17:11:255,.,.,.,.,.,.,.,.,.,0,.,.,.,136,.,.,.,.,.,.	.	.	.	0/2:16:10:113,.,.,0,.,107,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:11:201,0,67,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:9:153,0,61,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/5:13:6:144,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,95	0/5:6:4:104,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,41	0/3:11:5:69,.,.,.,.,.,0,.,.,104,.,.,.,.,.,.,.,.,.,.,.	0/2:16:8:127,.,.,0,.,130,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/1:17:16:255,255,255,.,.,.,.,.,.,.,111,0,.,.,111,.,.,.,.,.,.	.	.	0/4:11:6:183,.,.,.,.,.,.,.,.,.,0,.,.,.,68,.,.,.,.,.,.	.	GACACACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACAC,GACACACACACACACACACACACACACACACACACACACACACACAC	0	15	Lactoperoxidase	.	.	.	9030719|2222811	.	.	.	.	.	.	.	
L	17	56833478	.	A	ACCCGAC	224.4	PASS	PPM1E	protein phosphatase, Mg2+/Mn2+ dependent, 1E	exonic	NM_014906	.	nonframeshift insertion	PPM1E:NM_014906:exon1:c.120_121insCCCGAC:p.E40delinsEPD	ENST00000308249.2	CpG: 85	17q22	.	.	Score=804;Name=V$IRF7_01	.	Score=426;Name="1919183:(CCCGAA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	.	.	AC=7;AN=10;DP4=238,117,260,299;DP=1165;HOB=0.5;ICB=1;IDV=2;IMF=0.00934579;MQ0F=0;MQ=60;MQSB=1;SF=3,13,16,19,20;SGB=-0.693147;VDB=0.000273268	GT:DP:DV:PL	.	.	.	0/1:171:74:255,0,255	.	.	.	.	.	.	.	.	.	1/1:211:180:255,108,0	.	.	1/1:190:160:255,62,0	.	.	0/1:179:78:255,0,255	0/1:163:67:255,0,255	.	.	.	.	ACCCGA	ACCCGACCCCGA	2	3	.	.	.	.		.	.	.	.	.	.	.	
L	17	56833484	.	A	ACCCGAC	225	PASS	PPM1E	protein phosphatase, Mg2+/Mn2+ dependent, 1E	exonic	NM_014906	.	nonframeshift insertion	PPM1E:NM_014906:exon1:c.126_127insCCCGAC:p.E42delinsEPD	ENST00000308249.2	CpG: 85	17q22	.	.	Score=804;Name=V$IRF7_01	.	Score=426;Name="1919183:(CCCGAA)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=6;AN=8;DP4=137,67,230,266;DP=933;HOB=0.5;ICB=1;IDV=2;IMF=0.00938967;MQ0F=0;MQ=60;MQSB=1;SF=3,13,16,20;SGB=-0.693147;VDB=1.39414e-06	GT:DP:DV:PL	.	.	.	0/1:158:76:255,0,255	.	.	.	.	.	.	.	.	.	1/1:196:183:255,255,0	.	.	1/1:185:167:255,217,0	.	.	.	0/1:161:70:255,0,255	.	.	.	.	ACCCGA	ACCCGACCCCGA	2	2	.	.	.	.		.	.	.	.	.	.	.	
L	17	61988103	rs375224490	ACCC	A	222	PASS	CSHL1	chorionic somatomammotropin hormone-like 1	exonic	NM_022579,NM_022581	.	frameshift deletion	CSHL1:NM_022579:exon2:c.189_190del:p.M63fs,CSHL1:NM_022581:exon2:c.189_190del:p.M63fs	ENST00000346606.6,ENST00000392824.4,ENST00000450719.3,ENST00000438387.2,ENST00000561003.1,ENST00000309894.5,ENST00000259003.10,ENST00000558099.1	.	17q23.3	.	.	.	Score=0.941245;Name=chr17:61938988	.	rs375224490	.	.	0.00332226	0.005	0.000998403	.	0.0003	0.0038	0.00332226	0.00332226	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=57,38,51,25;DP=203;HOB=0.5;ICB=1;IDV=91;IMF=0.446078;MQ0F=0;MQ=58;MQSB=0.999954;SF=20;SGB=-0.693147;VDB=0.11383	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:171:76:255,0,255	.	.	.	.	ACCC	A	0	1	Chorionic somatomammotropin hormone-like 1	.	.	.	8083227|7169010|7072716|3005356|2744760|1378436	.	.	.	.	.	.	.	
H	17	73626921	rs377686257	T	TGG	54.5	PASS	RECQL5	RecQ helicase-like 5	splicing	NM_004259	NM_004259:exon12:c.1586-4->CC	.	.	ENST00000317905.5,ENST00000423245.2,ENST00000443199.2	.	17q25.1	.	.	.	.	.	rs377686257	.	.	.	.	.	.	.	.	0.0298295	0.00869565	.	.	.	.	.	.	.	.	.	.	0.773304,8.085	.	AC=12;AN=14;DP4=42,3,160,23;DP=477;HOB=0.5;ICB=1;IDV=2;IMF=0.0363636;MQ0F=0;MQ=60;MQSB=1;SF=2,5,6,12,14,20,23;SGB=-0.693079;VDB=0.613804	GT:DP:DV:PL	.	.	1/1:29:29:131,81,0	.	.	1/1:50:31:59,2,0	1/1:25:25:78,69,0	.	.	.	.	.	0/1:23:15:60,0,2	.	0/1:34:18:49,0,0	.	.	.	.	.	1/1:33:33:91,78,0	.	.	1/1:34:32:105,70,0	.	TGGGGGGGGGGGG	TGGGGGGGGGGGGGG	5	2	DNA helicase, RecQ-like 5	.	.	.	18003859|9878247	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	.	.	.	.	.	
H	17	73626923	rs55982817	G	GGT	89.98	PASS	RECQL5	RecQ helicase-like 5	splicing	NM_004259	NM_004259:exon12:c.1586-6->AC	.	.	ENST00000317905.5,ENST00000423245.2,ENST00000443199.2	.	17q25.1	.	.	.	.	.	rs55982817	.	.	.	.	.	.	.	.	0.0198864	0.0173913	.	.	.	.	.	.	.	.	.	.	0.290554,5.573	.	AC=14;AN=16;DP4=26,28,181,74;DP=508;HOB=0.5;ICB=1;IDV=2;IMF=0.04;MQ0F=0;MQ=60;MQSB=1;SF=0,2,4,7,15,20,23,24;SGB=-0.692831;VDB=0.988406	GT:DP:DV:PL	1/1:27:24:124,36,0	.	1/1:35:35:152,105,0	.	1/1:31:29:139,61,0	.	.	1/1:33:31:126,67,0	.	.	.	.	.	.	.	1/1:28:27:136,68,0	.	.	.	.	0/1:35:26:68,0,25	.	.	1/1:56:54:149,134,0	0/1:64:29:55,0,96	GG	GGTG	6	2	DNA helicase, RecQ-like 5	.	.	.	18003859|9878247	DNA_METABOLIC_PROCESS;DNA_REPAIR;BIOPOLYMER_METABOLIC_PROCESS;NUCLEOBASENUCLEOSIDENUCLEOTIDE_AND_NUCLEIC_ACID_METABOLIC_PROCESS;RESPONSE_TO_ENDOGENOUS_STIMULUS;RESPONSE_TO_STRESS;RESPONSE_TO_DNA_DAMAGE_STIMULUS	.	.	.	.	.	.	
L	17	77808240	rs756437476	CGTG	C	44.57	PASS	CBX4	chromobox homolog 4	exonic	NM_003655	.	nonframeshift deletion	CBX4:NM_003655:exon5:c.1198_1200del:p.400_400del	ENST00000269397.4	CpG: 225	17q25.3	.	.	.	.	Score=327;Name="1962444:(TGG)n(Simple_repeat)"	rs756437476	.	.	.	.	.	.	0.0229	0.0175	.	.	.	.	.	.	.	.	.	.	.	.	0.127625,4.686	.	AC=3;AN=6;DP4=40,2,6,2;DP=83;HOB=0.5;ICB=1;IDV=2;IMF=0.0625;MQ0F=0;MQ=60;MQSB=1;SF=5,10,20;SGB=-0.453602;VDB=0.0182375	GT:DP:DV:PL	.	.	.	.	.	0/1:17:2:60,0,255	.	.	.	.	0/1:15:4:125,0,255	.	.	.	.	.	.	.	.	.	0/1:18:2:57,0,255	.	.	.	.	CGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	CGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	0	3	Chromobox homolog 4, Drosophila polycomb class	.	.	.	12679040|9315667	CELL_DEVELOPMENT;NEGATIVE_REGULATION_OF_APOPTOSIS;PROGRAMMED_CELL_DEATH;NEGATIVE_REGULATION_OF_CELLULAR_PROCESS;REGULATION_OF_DEVELOPMENTAL_PROCESS;ANTI_APOPTOSIS;NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS;NEGATIVE_REGULATION_OF_BIOLOGICAL_PROCESS;REGULATION_OF_APOPTOSIS;NEGATIVE_REGULATION_OF_PROGRAMMED_CELL_DEATH;REGULATION_OF_PROGRAMMED_CELL_DEATH;APOPTOSIS_GO	NUCLEUS	TRANSCRIPTION_COREPRESSOR_ACTIVITY;TRANSCRIPTION_REPRESSOR_ACTIVITY;TRANSCRIPTION_FACTOR_BINDING;TRANSCRIPTION_COFACTOR_ACTIVITY	.	PID_CMYB_PATHWAY;PID_RB_1PATHWAY	.	.	
H	17	79031772	.	GACC	G	20.67	PASS	BAIAP2	BAI1-associated protein 2	splicing	NM_001144888,NM_006340,NM_017450,NM_017451	.	.	.	ENST00000321280.7,ENST00000575712.1,ENST00000435091.3,ENST00000575245.1,ENST00000392411.3,ENST00000428708.2,ENST00000321300.6,ENST00000573894.1	.	17q25.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.498481,14.31	.	AC=1;AN=2;DP4=3,3,0,3;DP=46;HOB=0.5;ICB=1;IDV=2;IMF=0.0434783;MQ0F=0;MQ=60;MQSB=0.924584;SF=20;SGB=-0.511536;VDB=0.967301	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:9:3:54,0,102	.	.	.	.	GACC	G	0	1	BAI1-associated protein 2	.	.	.	11130076|10343108|10332026|8621681	SYSTEM_DEVELOPMENT;ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY;NERVOUS_SYSTEM_DEVELOPMENT;CELL_DEVELOPMENT;INSULIN_RECEPTOR_SIGNALING_PATHWAY;NEURITE_DEVELOPMENT;SIGNAL_TRANSDUCTION;CELL_SURFACE_RECEPTOR_LINKED_SIGNAL_TRANSDUCTION_GO_0007166;ANATOMICAL_STRUCTURE_MORPHOGENESIS;AXONOGENESIS;CELLULAR_MORPHOGENESIS_DURING_DIFFERENTIATION;GENERATION_OF_NEURONS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ANATOMICAL_STRUCTURE_DEVELOPMENT;NEUROGENESIS;NEURON_DIFFERENTIATION;NEURON_DEVELOPMENT;TRANSMEMBRANE_RECEPTOR_PROTEIN_TYROSINE_KINASE_SIGNALING_PATHWAY	MEMBRANE;CYTOPLASM;PLASMA_MEMBRANE	MOLECULAR_ADAPTOR_ACTIVITY;CYTOSKELETAL_PROTEIN_BINDING;PROTEIN_C_TERMINUS_BINDING	KEGG_ADHERENS_JUNCTION;KEGG_REGULATION_OF_ACTIN_CYTOSKELETON	PID_CDC42_PATHWAY;PID_ERBB1_DOWNSTREAM_PATHWAY;PID_PDGFRBPATHWAY;PID_RAC1_PATHWAY	BIOCARTA_RHO_PATHWAY	.	PM2
H	18	28739495	rs746063088	C	CAAA	51.96	PASS	DSC1	desmocollin 1	splicing	NM_004948,NM_024421	NM_004948:exon2:c.64-3->TTT;NM_024421:exon2:c.64-3->TTT	.	.	ENST00000257197.3,ENST00000581836.1,ENST00000257198.5	.	18q12.1	.	.	.	.	.	rs746063088	.	.	.	.	.	.	0.0270	0.0377	0.00284091	.	.	.	.	.	.	.	.	.	.	.	0.717527,7.820	.	AC=23,2;AN=26;DP4=3,4,35,151;DP=280;HOB=0.5;ICB=1;IDV=29;IMF=0.725;MQ0F=0;MQ=60;MQSB=1;SF=0,1,3,4,6,8,10,14,17,18,19,20,23;SGB=-0.693097;VDB=0.0120604	GT:DP:DV:PL	1/1:30:30:115,69,0,.,.,.	1/1:15:15:91,42,0,.,.,.	.	1/1:12:11:86,43,28,.,.,.	1/1:14:14:66,30,0,.,.,.	.	1/1:10:10:89,27,0,.,.,.	.	1/2:16:16:127,88,58,74,0,59	.	1/1:10:10:84,27,0,.,.,.	.	.	.	2/1:12:12:96,68,50,51,0,39	.	.	1/1:11:11:65,37,10,.,.,.	1/1:18:18:99,51,0,.,.,.	0/1:17:11:53,0,3,.,.,.	1/1:17:17:104,52,13,.,.,.	.	.	1/1:11:11:70,28,0,.,.,.	.	CAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA,CAAAAAAAAAAAAAAAA	10	3	Desmocollin-1	.	.	.	8288219|7679953|6389579	.	CELL_JUNCTION;MEMBRANE_PART;INTERCELLULAR_JUNCTION;MEMBRANE;INTERCALATED_DISC;CELL_FRACTION;MEMBRANE_FRACTION;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	.	.	.	.	
H	18	67614674	.	T	TAAA	34.57	PASS	CD226	CD226 molecule	splicing	NM_006566	.	.	.	ENST00000582621.1,ENST00000280200.4,ENST00000581982.1	.	18q22.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=26,2;AN=28;DP4=7,1,134,109;DP=328;IDV=17;IMF=0.772727;MQ0F=0;MQ=60;MQSB=1;SF=0,4,5,6,7,10,11,12,15,16,18,20,21,23;SGB=-0.688148;VDB=0.396728	GT:DP:DV:PL	1/1:17:15:61,28,0,.,.,.	.	.	.	1/1:26:26:71,75,0,.,.,.	2/2:17:17:90,.,.,45,.,33	1/1:20:20:67,57,0,.,.,.	1/1:16:15:64,36,0,.,.,.	.	.	1/1:16:16:53,42,0,.,.,.	1/1:23:23:61,63,0,.,.,.	1/1:11:11:62,33,0,.,.,.	.	.	1/1:18:17:60,38,0,.,.,.	1/1:14:14:66,42,0,.,.,.	.	1/1:23:21:64,44,0,.,.,.	.	1/1:15:14:50,27,0,.,.,.	1/1:19:19:66,51,0,.,.,.	.	1/1:16:15:60,36,0,.,.,.	.	TAAAAAAAAAAA	TAAAAAAAAAAAA,TAAAAAAAAAAAAAA	14	0	DNAX accessory molecule 1	.	.	.	22547693|19029379|15661884|15136589|12913096|10591186|8673704	SIGNAL_TRANSDUCTION	INTRINSIC_TO_PLASMA_MEMBRANE;INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;INTEGRAL_TO_MEMBRANE;INTEGRAL_TO_PLASMA_MEMBRANE;PLASMA_MEMBRANE_PART;PLASMA_MEMBRANE	.	KEGG_CELL_ADHESION_MOLECULES_CAMS	.	.	REACTOME_IMMUNOREGULATORY_INTERACTIONS_BETWEEN_A_LYMPHOID_AND_A_NON_LYMPHOID_CELL;REACTOME_IMMUNE_SYSTEM;REACTOME_ADAPTIVE_IMMUNE_SYSTEM	PM2
H	18	72223591	rs10663835	G	GTGCTGCTGC	220.6	PASS	CNDP1	carnosine dipeptidase 1 (metallopeptidase M20 family)	exonic	NM_032649	.	nonframeshift insertion	CNDP1:NM_032649:exon2:c.43_44insTGCTGCTGC:p.V15delinsVLLL	ENST00000358821.3,ENST00000585136.1,ENST00000582365.1	.	18q22.3	.	.	.	.	.	rs10663835	.	.	.	.	.	.	6.783e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	1.796641,11.97	.	AC=43,2;AN=50;DP4=90,25,719,382;DP=1389;HOB=0.5;ICB=1;IDV=54;IMF=0.885246;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=0.000110399	GT:DP:DV:PL	1/1:57:56:255,109,0,.,.,.	1/1:46:46:255,138,0,.,.,.	1/1:49:48:255,88,0,.,.,.	1/1:53:52:255,100,0,.,.,.	0/1:39:19:255,0,255,.,.,.	0/1:65:33:255,0,255,.,.,.	1/1:48:48:255,144,0,.,.,.	1/2:64:64:255,255,255,255,0,255	1/1:40:40:255,120,0,.,.,.	1/1:38:38:255,114,0,.,.,.	1/1:54:54:255,163,0,.,.,.	1/1:40:40:255,120,0,.,.,.	0/1:25:5:178,0,255,.,.,.	1/1:42:42:255,126,0,.,.,.	1/1:55:54:255,106,0,.,.,.	1/1:46:45:255,87,0,.,.,.	1/1:63:61:255,102,0,.,.,.	1/1:41:39:255,3,0,.,.,.	1/1:49:49:255,148,0,.,.,.	1/1:59:59:255,178,0,.,.,.	0/1:48:21:255,0,255,.,.,.	1/1:64:60:255,0,8,.,.,.	0/1:16:15:255,0,12,.,.,.	1/2:60:59:255,255,255,255,0,255	1/1:55:54:255,106,0,.,.,.	GTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTG,GTGCTGCTGCTGCTGCTGCTGCTGCTG	18	7	Carnosine dipeptidase 1	.	.	.	12473676	.	.	.	KEGG_HISTIDINE_METABOLISM;KEGG_BETA_ALANINE_METABOLISM	.	.	.	PM4
H	19	1085857	rs569104923	G	GGGACGA	222	PASS	HMHA1	histocompatibility (minor) HA-1	exonic	NM_001258328,NM_001282334,NM_001282335,NM_012292	.	nonframeshift insertion	HMHA1:NM_001282334:exon13:c.2168_2169insGGACGA:p.G723delinsGDE,HMHA1:NM_001282335:exon22:c.2912_2913insGGACGA:p.G971delinsGDE,HMHA1:NM_001258328:exon23:c.3311_3312insGGACGA:p.G1104delinsGDE,HMHA1:NM_012292:exon23:c.3263_3264insGGACGA:p.G1088delinsGDE	ENST00000313093.2,ENST00000586866.1,ENST00000590577.1,ENST00000591169.1,ENST00000590214.1,ENST00000543365.1,ENST00000536472.1,ENST00000539243.2	.	19p13.3	.	.	.	.	.	rs569104923	.	.	0.0232558	0.0308	0.00638978	0.0100	0.0019	0.0235	0.01914241317	0.0216346040865	.	.	.	.	.	.	.	.	.	.	0.689636,7.684	.	AC=2;AN=4;DP4=84,44,84,45;DP=331;HOB=0.5;ICB=1;IDV=61;IMF=0.352601;MQ0F=0;MQ=60;MQSB=1;SF=6,20;SGB=-0.693147;VDB=0.0279158	GT:DP:DV:PL	.	.	.	.	.	.	0/1:132:73:255,0,255	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:125:56:255,0,255	.	.	.	.	GGGACGAGGACG	GGGACGAGGACGAGGACG	0	2	Minor histocompatibility antigen HA-1	.	.	.	11095984|9461441|9039502|8532022|8482585|1537607	.	.	.	.	.	.	REACTOME_SIGNALING_BY_RHO_GTPASES	PM4
L	19	10097443	rs111955359	T	TAAA	109.68	PASS	COL5A3	collagen, type V, alpha 3	splicing	NM_015719	NM_015719:exon28:c.2146-9->TTT	.	.	ENST00000264828.3	.	19p13.2	.	.	.	.	.	rs111955359	.	.	0.00664452	0.0099	0.0491214	.	0.0411	0.0230	0.0153139511792	0.00664452	.	.	.	.	.	.	.	.	.	.	-0.293913,2.597	.	AC=14,4,4,2;AN=32;DP4=110,118,197,355;DP=1103;HOB=0.5;ICB=1;IDV=35;IMF=0.522388;MQ0F=0;MQ=60;MQSB=1;SF=2,3,5,6,8,9,10,11,14,15,17,18,20,21,22,24;SGB=-0.693079;VDB=0.0225331	GT:DP:DV:PL	.	.	0/1:45:29:113,0,10,.,.,.,.,.,.,.,.,.,.,.,.	0/1:49:29:102,0,14,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:68:41:97,0,13,.,.,.,.,.,.,.,.,.,.,.,.	2/3:55:40:255,.,.,53,.,43,186,.,0,178,.,.,.,.,.	.	2/3:33:33:217,.,.,120,.,87,138,.,0,120,.,.,.,.,.	3/4:30:19:235,.,.,.,.,.,83,.,.,95,145,.,.,0,150	0/1:47:22:68,0,29,.,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:156,111,0,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:35:35:170,105,33,.,.,.,.,.,.,.,.,.,.,.,.	0/1:43:25:98,0,19,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:30:30:255,.,.,163,.,130,.,.,.,.,132,.,0,.,117	1/1:53:53:160,120,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:55:32:102,0,20,.,.,.,.,.,.,.,.,.,.,.,.	0/1:79:47:110,0,16,.,.,.,.,.,.,.,.,.,.,.,.	2/3:31:29:198,.,.,115,.,104,95,.,0,88,.,.,.,.,.	.	0/1:80:41:94,0,25,.,.,.,.,.,.,.,.,.,.,.,.	TAAAAAAAAAAA	TAAAAAAAAAAAAA,TAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAA	3	13	Collagen, type V, alpha-3 polypeptide	.	.	.	10722718	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
L	19	10097443	rs111955359	T	TAAAA	109.68	PASS	COL5A3	collagen, type V, alpha 3	splicing	NM_015719	NM_015719:exon28:c.2146-9->TTTT	.	.	ENST00000264828.3	.	19p13.2	.	.	.	.	.	rs111955359	.	.	0.0431894	0.0437	0.0201677	.	0.0126	0.0296	0.0459418459418	0.0564903939904	.	.	.	.	.	.	.	.	.	.	-0.302576,2.558	.	AC=14,4,4,2;AN=32;DP4=110,118,197,355;DP=1103;HOB=0.5;ICB=1;IDV=35;IMF=0.522388;MQ0F=0;MQ=60;MQSB=1;SF=2,3,5,6,8,9,10,11,14,15,17,18,20,21,22,24;SGB=-0.693079;VDB=0.0225331	GT:DP:DV:PL	.	.	0/1:45:29:113,0,10,.,.,.,.,.,.,.,.,.,.,.,.	0/1:49:29:102,0,14,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:68:41:97,0,13,.,.,.,.,.,.,.,.,.,.,.,.	2/3:55:40:255,.,.,53,.,43,186,.,0,178,.,.,.,.,.	.	2/3:33:33:217,.,.,120,.,87,138,.,0,120,.,.,.,.,.	3/4:30:19:235,.,.,.,.,.,83,.,.,95,145,.,.,0,150	0/1:47:22:68,0,29,.,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:156,111,0,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:35:35:170,105,33,.,.,.,.,.,.,.,.,.,.,.,.	0/1:43:25:98,0,19,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:30:30:255,.,.,163,.,130,.,.,.,.,132,.,0,.,117	1/1:53:53:160,120,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:55:32:102,0,20,.,.,.,.,.,.,.,.,.,.,.,.	0/1:79:47:110,0,16,.,.,.,.,.,.,.,.,.,.,.,.	2/3:31:29:198,.,.,115,.,104,95,.,0,88,.,.,.,.,.	.	0/1:80:41:94,0,25,.,.,.,.,.,.,.,.,.,.,.,.	TAAAAAAAAAAA	TAAAAAAAAAAAAA,TAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAA	3	13	Collagen, type V, alpha-3 polypeptide	.	.	.	10722718	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	
H	19	10097443	.	T	TAAAAA	109.68	PASS	COL5A3	collagen, type V, alpha 3	splicing	NM_015719	NM_015719:exon28:c.2146-9->TTTTT	.	.	ENST00000264828.3	.	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.311240,2.519	.	AC=14,4,4,2;AN=32;DP4=110,118,197,355;DP=1103;HOB=0.5;ICB=1;IDV=35;IMF=0.522388;MQ0F=0;MQ=60;MQSB=1;SF=2,3,5,6,8,9,10,11,14,15,17,18,20,21,22,24;SGB=-0.693079;VDB=0.0225331	GT:DP:DV:PL	.	.	0/1:45:29:113,0,10,.,.,.,.,.,.,.,.,.,.,.,.	0/1:49:29:102,0,14,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:68:41:97,0,13,.,.,.,.,.,.,.,.,.,.,.,.	2/3:55:40:255,.,.,53,.,43,186,.,0,178,.,.,.,.,.	.	2/3:33:33:217,.,.,120,.,87,138,.,0,120,.,.,.,.,.	3/4:30:19:235,.,.,.,.,.,83,.,.,95,145,.,.,0,150	0/1:47:22:68,0,29,.,.,.,.,.,.,.,.,.,.,.,.	1/1:47:47:156,111,0,.,.,.,.,.,.,.,.,.,.,.,.	.	.	1/1:35:35:170,105,33,.,.,.,.,.,.,.,.,.,.,.,.	0/1:43:25:98,0,19,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:30:30:255,.,.,163,.,130,.,.,.,.,132,.,0,.,117	1/1:53:53:160,120,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:55:32:102,0,20,.,.,.,.,.,.,.,.,.,.,.,.	0/1:79:47:110,0,16,.,.,.,.,.,.,.,.,.,.,.,.	2/3:31:29:198,.,.,115,.,104,95,.,0,88,.,.,.,.,.	.	0/1:80:41:94,0,25,.,.,.,.,.,.,.,.,.,.,.,.	TAAAAAAAAAAA	TAAAAAAAAAAAAA,TAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAA	3	13	Collagen, type V, alpha-3 polypeptide	.	.	.	10722718	MUSCLE_DEVELOPMENT;SYSTEM_DEVELOPMENT;ANATOMICAL_STRUCTURE_MORPHOGENESIS;MULTICELLULAR_ORGANISMAL_DEVELOPMENT;ORGAN_MORPHOGENESIS;ANATOMICAL_STRUCTURE_DEVELOPMENT;ORGAN_DEVELOPMENT	PROTEINACEOUS_EXTRACELLULAR_MATRIX;EXTRACELLULAR_MATRIX_PART;EXTRACELLULAR_REGION;EXTRACELLULAR_REGION_PART;EXTRACELLULAR_MATRIX;COLLAGEN	.	KEGG_FOCAL_ADHESION;KEGG_ECM_RECEPTOR_INTERACTION	.	.	REACTOME_EXTRACELLULAR_MATRIX_ORGANIZATION;REACTOME_COLLAGEN_FORMATION	PM2
H	19	12767874	.	CG	C	222	PASS	MAN2B1	mannosidase, alpha, class 2B, member 1	splicing	NM_000528,NM_001173498	NM_000528:exon12:c.1420-5C>-;NM_001173498:exon12:c.1417-5C>-	.	.	ENST00000221363.4,ENST00000456935.2,ENST00000495617.1	CpG: 21	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=17,19,19,18;DP=87;HOB=0.5;ICB=1;IDV=45;IMF=0.517241;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.693141;VDB=0.440643	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:73:37:255,0,255	.	.	.	.	CGG	CG	0	1	Mannosidosis, alpha-, types I and II, 248500 (3)	.	.	.	22161967|18713755|15269179|9915946|9758606|9396732|9370301|9208932|9192839|9158146|8910458|8829553|8166692|8159689|7436888|5472593|4358183|3034518|1472354|880209|724292|318157|318154	GLYCOPROTEIN_METABOLIC_PROCESS;BIOPOLYMER_METABOLIC_PROCESS;GLYCOPROTEIN_CATABOLIC_PROCESS;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	HYDROLASE_ACTIVITY_ACTING_ON_GLYCOSYL_BONDS;HYDROLASE_ACTIVITY_HYDROLYZING_O_GLYCOSYL_COMPOUNDS	KEGG_OTHER_GLYCAN_DEGRADATION;KEGG_LYSOSOME	.	.	.	PM2
L	19	13318672	rs765169827	CCTGCTGCTGCTGCTGCTG	C	174.33	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6975del:p.2320_2325del	ENST00000360228.5,ENST00000573710.2	CpG: 93	19p13.2	.	.	.	.	Score=360;Name="2132876:(CTG)n(Simple_repeat)"	rs765169827	.	.	.	.	.	.	0.0300	0.0094	.	0.126087	.	.	.	.	.	.	.	.	.	.	2.945712,15.82	.	AC=5,5,7,7,1,1,1;AN=40;DP4=63,21,120,34;DP=336;HOB=0.5;ICB=1;IDV=14;IMF=0.7;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,7,8,9,10,11,12,14,16,17,18,19,20,22,23;SGB=-0.686358;VDB=0.00103384	GT:DP:DV:PL	0/1:16:14:255,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:12:6:243,.,.,0,.,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:10:247,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:255,.,.,.,.,.,209,.,.,200,161,.,.,0,149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:12:255,.,.,196,.,175,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:16:16:255,.,.,233,.,206,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:234,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:2:84,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:14:13:255,.,.,.,.,.,174,.,.,183,203,.,.,0,217,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:9:5:236,.,.,0,.,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:12:6:211,.,.,.,.,.,0,.,.,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:21:4:106,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:5:4:174,.,.,.,.,.,0,.,.,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:12:4:155,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:3:127,.,.,.,.,.,0,.,.,236,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:255,.,.,160,.,147,.,.,.,.,.,.,.,.,.,203,.,0,.,.,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,158,.,.,.,.,.,140,255,.,.,.,.,.,0,255	.	0/4:6:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,42,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:7:237,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	1	19	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	
H	19	13318672	.	C	CCTGCTGCGG	174.33	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6975_6976insCCGCAGCAG:p.A2326delinsPQQA	ENST00000360228.5,ENST00000573710.2	CpG: 93	19p13.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=5,5,7,7,1,1,1;AN=40;DP4=63,21,120,34;DP=336;HOB=0.5;ICB=1;IDV=14;IMF=0.7;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,7,8,9,10,11,12,14,16,17,18,19,20,22,23;SGB=-0.686358;VDB=0.00103384	GT:DP:DV:PL	0/1:16:14:255,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:12:6:243,.,.,0,.,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:10:247,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:255,.,.,.,.,.,209,.,.,200,161,.,.,0,149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:12:255,.,.,196,.,175,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:16:16:255,.,.,233,.,206,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:234,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:2:84,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:14:13:255,.,.,.,.,.,174,.,.,183,203,.,.,0,217,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:9:5:236,.,.,0,.,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:12:6:211,.,.,.,.,.,0,.,.,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:21:4:106,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:5:4:174,.,.,.,.,.,0,.,.,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:12:4:155,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:3:127,.,.,.,.,.,0,.,.,236,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:255,.,.,160,.,147,.,.,.,.,.,.,.,.,.,203,.,0,.,.,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,158,.,.,.,.,.,140,255,.,.,.,.,.,0,255	.	0/4:6:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,42,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:7:237,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	1	19	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	PM2,PM4
L	19	13318672	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	C	174.33	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6949_6975del:p.2317_2325del	ENST00000360228.5,ENST00000573710.2	CpG: 93	19p13.2	.	.	.	.	Score=360;Name="2132876:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0173913	.	.	.	.	.	.	.	.	.	.	3.374920,17.38	.	AC=5,5,7,7,1,1,1;AN=40;DP4=63,21,120,34;DP=336;HOB=0.5;ICB=1;IDV=14;IMF=0.7;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,7,8,9,10,11,12,14,16,17,18,19,20,22,23;SGB=-0.686358;VDB=0.00103384	GT:DP:DV:PL	0/1:16:14:255,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:12:6:243,.,.,0,.,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:10:247,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:255,.,.,.,.,.,209,.,.,200,161,.,.,0,149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:12:255,.,.,196,.,175,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:16:16:255,.,.,233,.,206,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:234,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:2:84,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:14:13:255,.,.,.,.,.,174,.,.,183,203,.,.,0,217,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:9:5:236,.,.,0,.,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:12:6:211,.,.,.,.,.,0,.,.,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:21:4:106,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:5:4:174,.,.,.,.,.,0,.,.,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:12:4:155,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:3:127,.,.,.,.,.,0,.,.,236,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:255,.,.,160,.,147,.,.,.,.,.,.,.,.,.,203,.,0,.,.,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,158,.,.,.,.,.,140,255,.,.,.,.,.,0,255	.	0/4:6:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,42,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:7:237,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	1	19	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	
L	19	13318672	rs752539801	CCTGCTGCTG	C	174.33	PASS	CACNA1A	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	exonic	NM_001127222,NM_023035	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6967_6975del:p.2323_2325del	ENST00000360228.5,ENST00000573710.2	CpG: 93	19p13.2	.	.	.	.	Score=360;Name="2132876:(CTG)n(Simple_repeat)"	rs752539801	.	.	.	.	.	0.0487	0.0098	0	.	.	.	.	.	.	.	.	.	.	.	.	2.809954,15.36	.	AC=5,5,7,7,1,1,1;AN=40;DP4=63,21,120,34;DP=336;HOB=0.5;ICB=1;IDV=14;IMF=0.7;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,7,8,9,10,11,12,14,16,17,18,19,20,22,23;SGB=-0.686358;VDB=0.00103384	GT:DP:DV:PL	0/1:16:14:255,0,48,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:11:11:255,33,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:12:6:243,.,.,0,.,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:10:247,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:255,.,.,.,.,.,209,.,.,200,161,.,.,0,149,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/3:12:12:255,.,.,196,.,175,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:16:16:255,.,.,233,.,206,.,.,.,.,255,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:16:6:234,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:2:84,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:14:13:255,.,.,.,.,.,174,.,.,183,203,.,.,0,217,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:9:5:236,.,.,0,.,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:12:6:211,.,.,.,.,.,0,.,.,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:21:4:106,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/3:5:4:174,.,.,.,.,.,0,.,.,44,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:12:4:155,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:9:3:127,.,.,.,.,.,0,.,.,236,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/5:8:8:255,.,.,160,.,147,.,.,.,.,.,.,.,.,.,203,.,0,.,.,194,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/7:11:11:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,158,.,.,.,.,.,140,255,.,.,.,.,.,0,255	.	0/4:6:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,42,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/4:15:7:237,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC,CCTGCTGCTGCTGC,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	1	19	Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type 2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)	.	.	.	23827678|20186955|19847904|19817876|19633872|19586927|19104150|18825664|18687887|18541804|18400034|18313928|18285829|18056581|17968008|16595610|16043807|15985579|15795222|15699344|15577901|15452324|15336982|15175395|15003170|12756131|12707077|12235360|12056940|11809294|11723274|11564488|11439943|11409427|11370629|11342703|11179022|11176968|11061267|10987655|10753886|10734061|10611370|10607897|10508236|10408534|10408533|10408532|9915947|9741473|9600739|9498057|9488686|9345107|9311738|9302278|9259275|9259274|9164819|9164815|9153453|8988170|8980220|8929530|8898206|8825650|8734765|8638124|7537420	REGULATION_OF_BIOLOGICAL_QUALITY;CELL_DEVELOPMENT;CELLULAR_CATION_HOMEOSTASIS;HOMEOSTATIC_PROCESS;CELLULAR_HOMEOSTASIS;CHEMICAL_HOMEOSTASIS;ION_HOMEOSTASIS;CATION_HOMEOSTASIS	INTRINSIC_TO_MEMBRANE;MEMBRANE_PART;MEMBRANE;CYTOPLASM;NUCLEUS;INTEGRAL_TO_MEMBRANE;CELL_PROJECTION;PLASMA_MEMBRANE	CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;CATION_CHANNEL_ACTIVITY;VOLTAGE_GATED_CHANNEL_ACTIVITY;GATED_CHANNEL_ACTIVITY;VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;SUBSTRATE_SPECIFIC_CHANNEL_ACTIVITY;SUBSTRATE_SPECIFIC_TRANSPORTER_ACTIVITY;VOLTAGE_GATED_CATION_CHANNEL_ACTIVITY;CALCIUM_CHANNEL_ACTIVITY;METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_CHANNEL_ACTIVITY;TRANSMEMBRANE_TRANSPORTER_ACTIVITY;ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY	KEGG_MAPK_SIGNALING_PATHWAY;KEGG_CALCIUM_SIGNALING_PATHWAY;KEGG_LONG_TERM_DEPRESSION;KEGG_TASTE_TRANSDUCTION;KEGG_TYPE_II_DIABETES_MELLITUS	.	.	REACTOME_TRANSMISSION_ACROSS_CHEMICAL_SYNAPSES;REACTOME_NEURONAL_SYSTEM;REACTOME_INTEGRATION_OF_ENERGY_METABOLISM;REACTOME_REGULATION_OF_INSULIN_SECRETION	PM2
H	19	17397456	.	G	GGT	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1888_1889insGT:p.G630fs	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	19	17397456	rs764791116	GGT	G	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1889_1890del:p.G630fs	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	rs764791116	.	.	.	.	.	.	0.0027	0.0112	.	0.0347826	.	.	.	.	.	.	.	.	.	.	1.117936,9.559	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	19	17397456	rs58535756	GGTGT	G	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1889_1892del:p.G630fs	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	rs58535756	.	.	.	.	.	.	0.0025	0.0037	.	0.0565217	.	.	.	.	.	.	.	.	.	.	1.190497,9.839	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	19	17397456	rs59660863	GGTGTGT	G	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	nonframeshift deletion	ANKLE1:NM_001278444:exon8:c.1889_1894del:p.630_632del	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	rs59660863	.	.	.	.	.	.	0.0033	0	.	0.0173913	.	.	.	.	.	.	.	.	.	.	1.183921,9.814	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	
H	19	17397456	.	G	GGTGT	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1888_1889insGTGT:p.G630fs	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	
L	19	17397456	.	GGTGTGTGT	G	160.5	PASS	ANKLE1	ankyrin repeat and LEM domain containing 1	exonic	NM_001278444	.	frameshift deletion	ANKLE1:NM_001278444:exon8:c.1889_1896del:p.G630fs	ENST00000394458.3,ENST00000404085.1,ENST00000594072.1,ENST00000598347.1	.	19p13.11	.	.	.	.	Score=561;Name="2144179:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,7,2,1,1;AN=38;DP4=156,32,230,84;DP=908;HOB=0.5;ICB=1;IDV=8;IMF=0.181818;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,6,7,9,10,11,12,13,15,17,18,20,21,22,24;SGB=-0.680642;VDB=0.0840477	GT:DP:DV:PL	0/2:29:12:109,.,.,0,.,168,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/6:26:26:254,.,.,.,.,.,161,.,.,125,.,.,.,.,.,.,.,.,.,.,.,151,.,.,0,.,.,121	0/3:31:17:255,.,.,.,.,.,15,.,.,85,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:20:12:192,.,.,0,.,213,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:23:14:140,.,.,0,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:20:5:71,.,.,0,.,229,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:27:16:206,.,.,.,.,.,0,.,.,161,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:25:7:63,.,.,0,.,235,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:120,0,148,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:22:12:167,0,137,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:28:22:255,.,.,.,.,.,0,.,.,128,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:42:33:255,2,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:24:16:251,.,.,0,.,136,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:22:21:255,.,.,123,.,118,.,.,.,.,202,.,0,.,225,.,.,.,.,.,.,.,.,.,.,.,.,.	5/2:25:17:255,.,.,144,.,223,.,.,.,.,.,.,.,.,.,33,.,0,.,.,113,.,.,.,.,.,.,.	.	0/3:33:18:205,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:31:18:255,.,.,.,.,.,0,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/4:12:11:245,.,.,.,.,.,102,.,.,93,150,.,.,0,147,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:40:25:255,0,189,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGT	0	19	.	.	.	.		.	.	.	.	.	.	.	PM2
H	19	23938360	.	A	AAC	114.82	PASS	ZNF681	zinc finger protein 681	splicing	NM_138286	NM_138286:exon2:c.4-7->GT	.	.	ENST00000402377.3,ENST00000395385.3	.	19p12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147826	.	.	.	.	.	.	.	.	.	.	-1.116747,0.128	.	AC=15,11,1,1;AN=40;DP4=13,57,49,126;DP=992;HOB=0.5;ICB=1;IDV=8;IMF=0.195122;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,9,10,11,13,14,15,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0200128	GT:DP:DV:PL	0/2:12:8:85,.,.,0,.,87,.,.,.,.,.,.,.,.,.	0/1:13:10:189,0,18,.,.,.,.,.,.,.,.,.,.,.,.	3/2:6:4:172,.,.,74,.,104,68,.,0,98,.,.,.,.,.	2/2:7:7:244,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/1:16:10:206,119,176,31,0,88,.,.,.,.,.,.,.,.,.	0/4:10:6:97,.,.,.,.,.,.,.,.,.,8,.,.,.,61	0/1:12:10:151,0,22,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:14:6:134,0,75,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:150,0,48,.,.,.,.,.,.,.,.,.,.,.,.	0/1:7:3:79,0,94,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:10:130,0,92,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:90,14,46,.,.,.,.,.,.,.,.,.,.,.,.	1/2:20:18:255,41,41,219,0,244,.,.,.,.,.,.,.,.,.	.	0/1:11:5:96,0,89,.,.,.,.,.,.,.,.,.,.,.,.	0/2:15:7:100,.,.,0,.,133,.,.,.,.,.,.,.,.,.	2/1:17:15:255,255,255,70,0,66,.,.,.,.,.,.,.,.,.	1/2:12:11:255,114,106,190,0,195,.,.,.,.,.,.,.,.,.	1/2:17:14:217,72,111,101,0,146,.,.,.,.,.,.,.,.,.	.	0/1:8:4:80,0,80,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:11:190,85,125,64,0,107,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACACA	1	19	.	.	.	.		.	.	.	.	.	.	.	
H	19	23938360	rs763001279	A	AACAC	114.82	PASS	ZNF681	zinc finger protein 681	splicing	NM_138286	NM_138286:exon2:c.4-7->GTGT	.	.	ENST00000402377.3,ENST00000395385.3	.	19p12	.	.	.	.	.	rs763001279	.	.	.	.	.	.	.	.	.	0.256522	.	.	.	.	.	.	.	.	.	.	-1.134073,0.114	.	AC=15,11,1,1;AN=40;DP4=13,57,49,126;DP=992;HOB=0.5;ICB=1;IDV=8;IMF=0.195122;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,9,10,11,13,14,15,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0200128	GT:DP:DV:PL	0/2:12:8:85,.,.,0,.,87,.,.,.,.,.,.,.,.,.	0/1:13:10:189,0,18,.,.,.,.,.,.,.,.,.,.,.,.	3/2:6:4:172,.,.,74,.,104,68,.,0,98,.,.,.,.,.	2/2:7:7:244,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/1:16:10:206,119,176,31,0,88,.,.,.,.,.,.,.,.,.	0/4:10:6:97,.,.,.,.,.,.,.,.,.,8,.,.,.,61	0/1:12:10:151,0,22,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:14:6:134,0,75,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:150,0,48,.,.,.,.,.,.,.,.,.,.,.,.	0/1:7:3:79,0,94,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:10:130,0,92,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:90,14,46,.,.,.,.,.,.,.,.,.,.,.,.	1/2:20:18:255,41,41,219,0,244,.,.,.,.,.,.,.,.,.	.	0/1:11:5:96,0,89,.,.,.,.,.,.,.,.,.,.,.,.	0/2:15:7:100,.,.,0,.,133,.,.,.,.,.,.,.,.,.	2/1:17:15:255,255,255,70,0,66,.,.,.,.,.,.,.,.,.	1/2:12:11:255,114,106,190,0,195,.,.,.,.,.,.,.,.,.	1/2:17:14:217,72,111,101,0,146,.,.,.,.,.,.,.,.,.	.	0/1:8:4:80,0,80,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:11:190,85,125,64,0,107,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACACA	1	19	.	.	.	.		.	.	.	.	.	.	.	
H	19	23938360	.	A	AACACAC	114.82	PASS	ZNF681	zinc finger protein 681	splicing	NM_138286	NM_138286:exon2:c.4-7->GTGTGT	.	.	ENST00000402377.3,ENST00000395385.3	.	19p12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0521739	.	.	.	.	.	.	.	.	.	.	-1.151400,0.102	.	AC=15,11,1,1;AN=40;DP4=13,57,49,126;DP=992;HOB=0.5;ICB=1;IDV=8;IMF=0.195122;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,9,10,11,13,14,15,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0200128	GT:DP:DV:PL	0/2:12:8:85,.,.,0,.,87,.,.,.,.,.,.,.,.,.	0/1:13:10:189,0,18,.,.,.,.,.,.,.,.,.,.,.,.	3/2:6:4:172,.,.,74,.,104,68,.,0,98,.,.,.,.,.	2/2:7:7:244,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/1:16:10:206,119,176,31,0,88,.,.,.,.,.,.,.,.,.	0/4:10:6:97,.,.,.,.,.,.,.,.,.,8,.,.,.,61	0/1:12:10:151,0,22,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:14:6:134,0,75,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:150,0,48,.,.,.,.,.,.,.,.,.,.,.,.	0/1:7:3:79,0,94,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:10:130,0,92,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:90,14,46,.,.,.,.,.,.,.,.,.,.,.,.	1/2:20:18:255,41,41,219,0,244,.,.,.,.,.,.,.,.,.	.	0/1:11:5:96,0,89,.,.,.,.,.,.,.,.,.,.,.,.	0/2:15:7:100,.,.,0,.,133,.,.,.,.,.,.,.,.,.	2/1:17:15:255,255,255,70,0,66,.,.,.,.,.,.,.,.,.	1/2:12:11:255,114,106,190,0,195,.,.,.,.,.,.,.,.,.	1/2:17:14:217,72,111,101,0,146,.,.,.,.,.,.,.,.,.	.	0/1:8:4:80,0,80,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:11:190,85,125,64,0,107,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACACA	1	19	.	.	.	.		.	.	.	.	.	.	.	
H	19	23938360	.	A	AACACACAC	114.82	PASS	ZNF681	zinc finger protein 681	splicing	NM_138286	NM_138286:exon2:c.4-7->GTGTGTGT	.	.	ENST00000402377.3,ENST00000395385.3	.	19p12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026087	.	.	.	.	.	.	.	.	.	.	-1.168727,0.090	.	AC=15,11,1,1;AN=40;DP4=13,57,49,126;DP=992;HOB=0.5;ICB=1;IDV=8;IMF=0.195122;MQ0F=0;MQ=60;MQSB=0.95494;SF=0,1,2,3,4,5,6,9,10,11,13,14,15,17,18,19,20,21,23,24;SGB=-0.651104;VDB=0.0200128	GT:DP:DV:PL	0/2:12:8:85,.,.,0,.,87,.,.,.,.,.,.,.,.,.	0/1:13:10:189,0,18,.,.,.,.,.,.,.,.,.,.,.,.	3/2:6:4:172,.,.,74,.,104,68,.,0,98,.,.,.,.,.	2/2:7:7:244,.,.,18,.,0,.,.,.,.,.,.,.,.,.	2/1:16:10:206,119,176,31,0,88,.,.,.,.,.,.,.,.,.	0/4:10:6:97,.,.,.,.,.,.,.,.,.,8,.,.,.,61	0/1:12:10:151,0,22,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:14:6:134,0,75,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:150,0,48,.,.,.,.,.,.,.,.,.,.,.,.	0/1:7:3:79,0,94,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:14:10:130,0,92,.,.,.,.,.,.,.,.,.,.,.,.	0/1:10:8:90,14,46,.,.,.,.,.,.,.,.,.,.,.,.	1/2:20:18:255,41,41,219,0,244,.,.,.,.,.,.,.,.,.	.	0/1:11:5:96,0,89,.,.,.,.,.,.,.,.,.,.,.,.	0/2:15:7:100,.,.,0,.,133,.,.,.,.,.,.,.,.,.	2/1:17:15:255,255,255,70,0,66,.,.,.,.,.,.,.,.,.	1/2:12:11:255,114,106,190,0,195,.,.,.,.,.,.,.,.,.	1/2:17:14:217,72,111,101,0,146,.,.,.,.,.,.,.,.,.	.	0/1:8:4:80,0,80,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:11:190,85,125,64,0,107,.,.,.,.,.,.,.,.,.	AACACACACACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACA,AACACACACACACACACACACACACACACACACACACACACACACACACA	1	19	.	.	.	.		.	.	.	.	.	.	.	
L	19	30500118	rs541497604	GTGATGA	G	220.6	PASS	URI1	URI1, prefoldin-like chaperone	exonic	NM_001252641,NM_003796	.	nonframeshift deletion	URI1:NM_001252641:exon8:c.840_845del:p.280_282del,URI1:NM_003796:exon8:c.894_899del:p.298_300del	ENST00000542441.2,ENST00000392271.1,ENST00000360605.4,ENST00000312051.6	.	19q12	.	.	.	.	Score=315;Name="2163465:(ATG)n(Simple_repeat)"	rs541497604	.	.	0	.	0.000998403	.	0.0309	0.0272	.	.	.	.	.	.	.	.	.	.	.	.	0.387328,6.103	.	AC=39,3;AN=50;DP4=79,56,447,454;DP=1230;HOB=0.5;ICB=1;IDV=44;IMF=0.733333;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.693147;VDB=5.75701e-05	GT:DP:DV:PL	1/1:50:50:255,151,0,.,.,.	0/1:47:29:255,0,255,.,.,.	0/1:41:24:255,0,255,.,.,.	1/1:55:55:255,160,0,.,.,.	1/1:32:32:255,93,0,.,.,.	1/2:47:47:255,255,212,255,0,255	0/1:43:20:255,0,255,.,.,.	0/1:27:19:255,0,228,.,.,.	1/1:51:51:255,154,0,.,.,.	1/1:35:35:255,105,0,.,.,.	1/2:53:53:255,216,72,255,0,255	1/1:48:48:255,141,0,.,.,.	1/1:32:32:255,93,0,.,.,.	0/1:49:34:255,0,255,.,.,.	1/1:26:26:255,98,26,.,.,.	1/2:47:47:255,249,123,255,0,255	1/1:38:38:255,114,0,.,.,.	1/1:35:35:255,96,0,.,.,.	0/1:57:32:255,0,255,.,.,.	0/1:29:16:255,0,255,.,.,.	1/1:45:45:255,132,0,.,.,.	1/1:42:42:255,117,0,.,.,.	1/1:23:22:255,43,0,.,.,.	0/1:34:20:255,0,255,.,.,.	1/1:50:49:255,88,0,.,.,.	GTGATGATGATGATGATGATGATGATGA	GTGATGATGATGATGATGATGATGA,GTGATGATGATGATGATGATGA	14	11	NNX3 protein	.	.	.	14615539|9878255|9819440	.	.	.	.	.	.	.	
L	19	35175076	rs777272637	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	92.8	PASS	ZNF302	zinc finger protein 302	exonic	NM_001289188,NM_001289189,NM_001289190,NM_001289191,NM_001289192,NM_018675	.	frameshift deletion	ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs,ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs,ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs,ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs,ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs,ZNF302:NM_018675:exon5:c.395_929del:p.*132fs	ENST00000446502.2,ENST00000509528.1,ENST00000507959.1,ENST00000505242.1,ENST00000423823.2,ENST00000505365.2,ENST00000457781.2	.	19q13.11	.	.	.	Score=0.907453;Name=chr19:35028663	Score=441;Name="2172575:(A)n(Simple_repeat)"	rs777272637	.	.	.	.	.	.	0.0084	0.0475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1,1,1,1,2;AN=10;DP4=6,2,8,12;DP=56;HOB=0.5;ICB=1;IDV=3;IMF=0.333333;MQ0F=0;MQ=60;MQSB=1;SF=3,13,17,20,21;SGB=-0.511536;VDB=0.156562	GT:DP:DV:PL	.	.	.	0/5:4:3:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,50,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	0/6:4:2:94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,101	.	.	.	1/2:5:4:206,52,47,156,0,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/4:7:6:175,.,.,.,.,.,72,.,.,98,77,.,.,0,104,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:8:5:100,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,131	.	.	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	5	.	.	.	.		.	.	.	.	.	.	.	
L	19	35175076	rs752404761	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	92.8	PASS	ZNF302	zinc finger protein 302	exonic	NM_001289188,NM_001289189,NM_001289190,NM_001289191,NM_001289192,NM_018675	.	frameshift deletion	ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs,ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs,ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs,ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs,ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs,ZNF302:NM_018675:exon5:c.395_929del:p.*132fs	ENST00000446502.2,ENST00000509528.1,ENST00000507959.1,ENST00000505242.1,ENST00000423823.2,ENST00000505365.2,ENST00000457781.2	.	19q13.11	.	.	.	Score=0.907453;Name=chr19:35028663	Score=441;Name="2172575:(A)n(Simple_repeat)"	rs752404761	.	.	.	.	.	.	0.0078	0.0171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1,1,1,1,2;AN=10;DP4=6,2,8,12;DP=56;HOB=0.5;ICB=1;IDV=3;IMF=0.333333;MQ0F=0;MQ=60;MQSB=1;SF=3,13,17,20,21;SGB=-0.511536;VDB=0.156562	GT:DP:DV:PL	.	.	.	0/5:4:3:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,50,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	0/6:4:2:94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,101	.	.	.	1/2:5:4:206,52,47,156,0,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/4:7:6:175,.,.,.,.,.,72,.,.,98,77,.,.,0,104,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:8:5:100,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,131	.	.	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	5	.	.	.	.		.	.	.	.	.	.	.	
L	19	35175076	.	TAAAAAAAAAAAAAAAAAAAAAAAAAA	T	92.8	PASS	ZNF302	zinc finger protein 302	exonic	NM_001289188,NM_001289189,NM_001289190,NM_001289191,NM_001289192,NM_018675	.	frameshift deletion	ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs,ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs,ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs,ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs,ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs,ZNF302:NM_018675:exon5:c.395_929del:p.*132fs	ENST00000446502.2,ENST00000509528.1,ENST00000507959.1,ENST00000505242.1,ENST00000423823.2,ENST00000505365.2,ENST00000457781.2	.	19q13.11	.	.	.	Score=0.907453;Name=chr19:35028663	Score=441;Name="2172575:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1,1,1,1,2;AN=10;DP4=6,2,8,12;DP=56;HOB=0.5;ICB=1;IDV=3;IMF=0.333333;MQ0F=0;MQ=60;MQSB=1;SF=3,13,17,20,21;SGB=-0.511536;VDB=0.156562	GT:DP:DV:PL	.	.	.	0/5:4:3:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,50,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	0/6:4:2:94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,101	.	.	.	1/2:5:4:206,52,47,156,0,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/4:7:6:175,.,.,.,.,.,72,.,.,98,77,.,.,0,104,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:8:5:100,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,131	.	.	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
L	19	35175076	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	92.8	PASS	ZNF302	zinc finger protein 302	exonic	NM_001289188,NM_001289189,NM_001289190,NM_001289191,NM_001289192,NM_018675	.	frameshift deletion	ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs,ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs,ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs,ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs,ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs,ZNF302:NM_018675:exon5:c.395_929del:p.*132fs	ENST00000446502.2,ENST00000509528.1,ENST00000507959.1,ENST00000505242.1,ENST00000423823.2,ENST00000505365.2,ENST00000457781.2	.	19q13.11	.	.	.	Score=0.907453;Name=chr19:35028663	Score=441;Name="2172575:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1,1,1,1,2;AN=10;DP4=6,2,8,12;DP=56;HOB=0.5;ICB=1;IDV=3;IMF=0.333333;MQ0F=0;MQ=60;MQSB=1;SF=3,13,17,20,21;SGB=-0.511536;VDB=0.156562	GT:DP:DV:PL	.	.	.	0/5:4:3:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,50,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	0/6:4:2:94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,101	.	.	.	1/2:5:4:206,52,47,156,0,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/4:7:6:175,.,.,.,.,.,72,.,.,98,77,.,.,0,104,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:8:5:100,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,131	.	.	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
L	19	35175076	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	92.8	PASS	ZNF302	zinc finger protein 302	exonic	NM_001289188,NM_001289189,NM_001289190,NM_001289191,NM_001289192,NM_018675	.	frameshift deletion	ZNF302:NM_001289188:exon5:c.398_691del:p.*133fs,ZNF302:NM_001289189:exon5:c.398_685del:p.*133fs,ZNF302:NM_001289190:exon5:c.395_622del:p.*132fs,ZNF302:NM_001289191:exon5:c.395_659del:p.*132fs,ZNF302:NM_001289192:exon5:c.395_682del:p.*132fs,ZNF302:NM_018675:exon5:c.395_929del:p.*132fs	ENST00000446502.2,ENST00000509528.1,ENST00000507959.1,ENST00000505242.1,ENST00000423823.2,ENST00000505365.2,ENST00000457781.2	.	19q13.11	.	.	.	Score=0.907453;Name=chr19:35028663	Score=441;Name="2172575:(A)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,1,1,1,1,2;AN=10;DP4=6,2,8,12;DP=56;HOB=0.5;ICB=1;IDV=3;IMF=0.333333;MQ0F=0;MQ=60;MQSB=1;SF=3,13,17,20,21;SGB=-0.511536;VDB=0.156562	GT:DP:DV:PL	.	.	.	0/5:4:3:108,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,50,.,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	0/6:4:2:94,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,101	.	.	.	1/2:5:4:206,52,47,156,0,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	3/4:7:6:175,.,.,.,.,.,72,.,.,98,77,.,.,0,104,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:8:5:100,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,131	.	.	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	TAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAAAA,TAAAAAAAAAAAAAAAAA	0	5	.	.	.	.		.	.	.	.	.	.	.	PM2
H	19	46299138	rs3217398	T	TCTCCTCGCCCTCCTCCTC	140.15	PASS	RSPH6A	radial spoke head 6 homolog A (Chlamydomonas)	exonic	NM_030785	.	nonframeshift insertion	RSPH6A:NM_030785:exon6:c.2142_2143insGAGGAGGAGGGCGAGGAG:p.T715delinsEEEGEET	ENST00000221538.3,ENST00000600188.1,ENST00000597055.1	.	19q13.32	.	.	.	.	.	rs3217398	.	.	.	.	.	.	.	.	.	0.417391	.	.	.	.	.	.	.	.	.	.	.	.	AC=18,1;AN=34;DP4=144,43,73,30;DP=484;HOB=0.5;ICB=1;IDV=2;IMF=0.0909091;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,6,7,8,10,11,13,15,17,18,20,21,23,24;SGB=-0.453602;VDB=0.112814	GT:DP:DV:PL	0/1:10:2:90,0,248,.,.,.	.	0/1:24:6:239,0,255,.,.,.	1/1:4:4:210,12,0,.,.,.	0/2:14:4:82,.,.,0,.,255	.	0/1:21:10:255,0,255,.,.,.	0/1:35:8:213,0,255,.,.,.	0/1:17:12:255,0,203,.,.,.	.	0/1:19:4:158,0,255,.,.,.	0/1:13:3:75,0,255,.,.,.	.	0/1:15:4:169,0,255,.,.,.	.	0/1:14:2:69,0,255,.,.,.	.	0/1:15:8:255,0,195,.,.,.	0/1:16:4:154,0,255,.,.,.	.	0/1:18:3:117,0,255,.,.,.	0/1:18:9:255,0,255,.,.,.	.	1/1:17:17:255,57,9,.,.,.	0/1:20:3:111,0,255,.,.,.	TCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC	TCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC,TCTCCTCGCCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC	2	15	Radial spokehead-like 1	.	.	.	11237735	.	.	.	.	.	.	.	PM4
H	19	46299138	.	T	TCTCCTCGCCCTCCTC	140.15	PASS	RSPH6A	radial spoke head 6 homolog A (Chlamydomonas)	exonic	NM_030785	.	nonframeshift insertion	RSPH6A:NM_030785:exon6:c.2142_2143insGAGGAGGGCGAGGAG:p.T715delinsEEGEET	ENST00000221538.3,ENST00000600188.1,ENST00000597055.1	.	19q13.32	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=18,1;AN=34;DP4=144,43,73,30;DP=484;HOB=0.5;ICB=1;IDV=2;IMF=0.0909091;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,4,6,7,8,10,11,13,15,17,18,20,21,23,24;SGB=-0.453602;VDB=0.112814	GT:DP:DV:PL	0/1:10:2:90,0,248,.,.,.	.	0/1:24:6:239,0,255,.,.,.	1/1:4:4:210,12,0,.,.,.	0/2:14:4:82,.,.,0,.,255	.	0/1:21:10:255,0,255,.,.,.	0/1:35:8:213,0,255,.,.,.	0/1:17:12:255,0,203,.,.,.	.	0/1:19:4:158,0,255,.,.,.	0/1:13:3:75,0,255,.,.,.	.	0/1:15:4:169,0,255,.,.,.	.	0/1:14:2:69,0,255,.,.,.	.	0/1:15:8:255,0,195,.,.,.	0/1:16:4:154,0,255,.,.,.	.	0/1:18:3:117,0,255,.,.,.	0/1:18:9:255,0,255,.,.,.	.	1/1:17:17:255,57,9,.,.,.	0/1:20:3:111,0,255,.,.,.	TCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC	TCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC,TCTCCTCGCCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTCGCCCTCCTCCTCCTCCTC	2	15	Radial spokehead-like 1	.	.	.	11237735	.	.	.	.	.	.	.	PM2,PM4
L	19	50155361	rs565149093	GCCGCTCCCGCTC	G	152.18	PASS	SCAF1	SR-related CTD-associated factor 1	exonic	NM_021228	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.1716_1727del:p.572_576del	ENST00000360565.3	CpG: 186	19q13.33	.	.	Score=776;Name=V$PAX5_02	.	Score=204;Name="2210985:C-rich(Low_complexity)"	rs565149093	.	.	0	.	0.00119808	.	0.0040	0	.	0.0130435	.	.	.	.	.	.	.	.	.	.	0.931737,8.796	.	AC=9,3,1,2;AN=22;DP4=5,11,14,48;DP=118;HOB=0.5;ICB=1;IDV=9;IMF=0.473684;MQ0F=0;MQ=60;MQSB=1;SF=2,5,6,8,10,11,17,19,20,21,23;SGB=-0.662043;VDB=0.0145983	GT:DP:DV:PL	.	.	1/2:9:9:255,145,127,251,0,242,.,.,.,.,.,.,.,.,.	.	.	2/3:7:7:255,.,.,109,.,96,183,.,0,177,.,.,.,.,.	0/1:5:4:171,0,45,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:140,0,48,.,.,.,.,.,.,.,.,.,.,.,.	.	1/2:9:9:255,114,93,255,0,255,.,.,.,.,.,.,.,.,.	0/1:9:4:116,0,194,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	.	0/4:3:2:101,.,.,.,.,.,.,.,.,.,0,.,.,.,51	.	0/4:7:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,90	0/1:9:7:255,0,81,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:6:2:93,0,159,.,.,.,.,.,.,.,.,.,.,.,.	.	GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	GCCGCTCCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	1	10	.	.	.	.		.	.	.	.	.	.	.	
L	19	50155361	rs747852977	GCCGCTCCCGCTCCCGCTC	G	152.18	PASS	SCAF1	SR-related CTD-associated factor 1	exonic	NM_021228	.	nonframeshift deletion	SCAF1:NM_021228:exon7:c.1716_1733del:p.572_578del	ENST00000360565.3	CpG: 186	19q13.33	.	.	Score=776;Name=V$PAX5_02	.	Score=204;Name="2210985:C-rich(Low_complexity)"	rs747852977	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=9,3,1,2;AN=22;DP4=5,11,14,48;DP=118;HOB=0.5;ICB=1;IDV=9;IMF=0.473684;MQ0F=0;MQ=60;MQSB=1;SF=2,5,6,8,10,11,17,19,20,21,23;SGB=-0.662043;VDB=0.0145983	GT:DP:DV:PL	.	.	1/2:9:9:255,145,127,251,0,242,.,.,.,.,.,.,.,.,.	.	.	2/3:7:7:255,.,.,109,.,96,183,.,0,177,.,.,.,.,.	0/1:5:4:171,0,45,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:140,0,48,.,.,.,.,.,.,.,.,.,.,.,.	.	1/2:9:9:255,114,93,255,0,255,.,.,.,.,.,.,.,.,.	0/1:9:4:116,0,194,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	.	0/4:3:2:101,.,.,.,.,.,.,.,.,.,0,.,.,.,51	.	0/4:7:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,90	0/1:9:7:255,0,81,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:6:2:93,0,159,.,.,.,.,.,.,.,.,.,.,.,.	.	GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	GCCGCTCCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	1	10	.	.	.	.		.	.	.	.	.	.	.	PM2
L	19	50155361	rs770145216	G	GCCGCTC	152.18	PASS	SCAF1	SR-related CTD-associated factor 1	exonic	NM_021228	.	nonframeshift insertion	SCAF1:NM_021228:exon7:c.1715_1716insCCGCTC:p.R572delinsRRS	ENST00000360565.3	CpG: 186	19q13.33	.	.	Score=776;Name=V$PAX5_02	.	Score=204;Name="2210985:C-rich(Low_complexity)"	rs770145216	.	.	.	.	.	.	0.0010	0	.	0.073913	.	.	.	.	.	.	.	.	.	.	.	.	AC=9,3,1,2;AN=22;DP4=5,11,14,48;DP=118;HOB=0.5;ICB=1;IDV=9;IMF=0.473684;MQ0F=0;MQ=60;MQSB=1;SF=2,5,6,8,10,11,17,19,20,21,23;SGB=-0.662043;VDB=0.0145983	GT:DP:DV:PL	.	.	1/2:9:9:255,145,127,251,0,242,.,.,.,.,.,.,.,.,.	.	.	2/3:7:7:255,.,.,109,.,96,183,.,0,177,.,.,.,.,.	0/1:5:4:171,0,45,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:4:3:140,0,48,.,.,.,.,.,.,.,.,.,.,.,.	.	1/2:9:9:255,114,93,255,0,255,.,.,.,.,.,.,.,.,.	0/1:9:4:116,0,194,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	.	0/4:3:2:101,.,.,.,.,.,.,.,.,.,0,.,.,.,51	.	0/4:7:5:227,.,.,.,.,.,.,.,.,.,0,.,.,.,90	0/1:9:7:255,0,81,.,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:6:2:93,0,159,.,.,.,.,.,.,.,.,.,.,.,.	.	GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	GCCGCTCCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCC,GCCGCTCCCGCTCC,GCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCCCGCTCC	1	10	.	.	.	.		.	.	.	.	.	.	.	
H	19	55790886	rs3040014	A	AGCCGCC	218.56	PASS	HSPBP1	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	exonic	NM_001130106,NM_001297600,NM_012267	.	nonframeshift insertion	HSPBP1:NM_001297600:exon1:c.228_229insGGCGGC:p.S77delinsGGS,HSPBP1:NM_012267:exon2:c.90_91insGGCGGC:p.S31delinsGGS,HSPBP1:NM_001130106:exon3:c.90_91insGGCGGC:p.S31delinsGGS	ENST00000433386.2,ENST00000376343.3,ENST00000255631.5,ENST00000587922.1	CpG: 20	19q13.42	.	.	.	.	.	rs3040014	.	.	.	.	.	0.0171	0.0109	0.0265	0.00142045	0.00869565	.	.	.	.	.	.	.	.	.	.	2.359702,13.85	.	AC=36,3;AN=50;DP4=171,121,446,358;DP=1417;HOB=0.5;ICB=1;IDV=31;IMF=0.815789;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.69312;VDB=0.0700495	GT:DP:DV:PL	1/1:32:32:255,96,0,.,.,.	1/2:33:33:255,147,63,255,0,255	0/1:41:18:255,0,255,.,.,.	0/1:59:28:255,0,255,.,.,.	0/1:46:21:255,0,255,.,.,.	1/1:58:58:255,175,18,.,.,.	0/1:57:31:255,0,255,.,.,.	1/2:43:43:255,180,72,255,0,255	1/1:44:44:255,126,0,.,.,.	1/1:26:26:255,78,0,.,.,.	0/1:55:23:255,0,255,.,.,.	1/2:41:41:255,160,49,255,0,255	1/1:36:36:255,129,29,.,.,.	1/1:41:41:255,117,0,.,.,.	1/1:40:40:255,115,3,.,.,.	0/1:60:32:255,0,255,.,.,.	1/1:31:31:255,87,0,.,.,.	0/1:39:23:255,0,255,.,.,.	1/1:46:46:255,138,0,.,.,.	0/1:42:17:255,0,255,.,.,.	0/1:59:30:255,0,255,.,.,.	0/1:62:26:255,0,255,.,.,.	1/1:19:19:255,57,3,.,.,.	0/1:42:21:255,0,255,.,.,.	1/1:44:44:255,124,3,.,.,.	AGCCGCCGCCGCCGCC	AGCCGCCGCCGCCGCCGCCGCCGCC,AGCCGCCGCCGCCGCCGCCGCC	11	14	Heat-shock 70kD protein-binding protein 1	.	.	.	15215316|12417338|10786638|9830037	PROTEIN_FOLDING;CELLULAR_PROTEIN_METABOLIC_PROCESS;PROTEIN_METABOLIC_PROCESS;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS	.	ENZYME_REGULATOR_ACTIVITY;ENZYME_INHIBITOR_ACTIVITY	.	.	.	.	PM4
L	20	271225	rs3835237	T	TTA	162.4	PASS	C20orf96	chromosome 20 open reading frame 96	splicing	NM_080571,NM_153269	NM_080571:exon1:c.17+3->TA;NM_153269:exon1:c.20+7->TA	.	.	ENST00000400269.3,ENST00000360321.2	CpG: 33	20p13	.	.	.	.	Score=189;Name="2648829:(T)n(Simple_repeat)"	rs3835237	.	.	.	.	.	.	0.0353	0.0270	0.0610795	0.00869565	.	.	.	.	.	.	.	.	.	.	0.808946,8.251	.	AC=10,9,11,1,2;AN=40;DP4=40,19,170,117;DP=627;HOB=0.5;ICB=1;IDV=7;IMF=0.225806;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,6,7,8,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.405613	GT:DP:DV:PL	0/3:15:11:175,.,.,.,.,.,1,.,.,60,.,.,.,.,.,.,.,.,.,.,.	.	.	3/2:17:15:255,.,.,247,.,255,171,.,0,181,.,.,.,.,.,.,.,.,.,.,.	0/3:13:9:.,.,.,.,.,.,.,.,.,81,.,.,.,.,.,.,.,.,.,.,.	.	0/1:17:10:106,0,101,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:13:9:120,.,.,0,.,75,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,240,.,249,153,.,0,152,.,.,.,.,.,.,.,.,.,.,.	.	3/1:23:23:255,255,255,.,.,.,249,0,.,222,.,.,.,.,.,.,.,.,.,.,.	2/1:20:17:.,.,255,.,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:18:15:.,.,.,.,.,151,.,.,.,.,.,.,0,.,203,.,.,.,.,.,.	3/5:13:11:255,.,.,.,.,.,77,.,.,83,.,.,.,.,.,187,.,.,0,.,195	1/2:21:21:255,221,200,245,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:18:14:255,123,182,.,.,.,87,0,.,146,.,.,.,.,.,.,.,.,.,.,.	0/1:16:13:206,7,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:19:7:108,.,.,.,.,.,0,.,.,139,.,.,.,.,.,.,.,.,.,.,.	5/1:14:14:255,154,142,.,.,.,.,.,.,.,.,.,.,.,.,169,0,.,.,.,148	3/2:17:13:255,.,.,135,.,171,101,.,0,137,.,.,.,.,.,.,.,.,.,.,.	3/2:27:27:255,.,.,255,.,255,207,.,0,171,.,.,.,.,.,.,.,.,.,.,.	0/1:9:5:73,0,56,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:16:16:255,203,182,225,0,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:21:19:255,170,203,.,.,.,82,0,.,105,.,.,.,.,.,.,.,.,.,.,.	TA	TTAA,TTTTAA,TTTAA,TTTTTTAA,TAA	0	20	.	.	.	.		.	.	.	.	.	.	.	
L	20	271225	rs3835237	T	TTTTA	162.4	PASS	C20orf96	chromosome 20 open reading frame 96	splicing	NM_080571,NM_153269	NM_080571:exon1:c.17+3->TAAA;NM_153269:exon1:c.20+7->TAAA	.	.	ENST00000400269.3,ENST00000360321.2	CpG: 33	20p13	.	.	.	.	Score=189;Name="2648829:(T)n(Simple_repeat)"	rs3835237	.	.	.	.	.	.	0.0109	0.0061	0.00710227	0.0130435	.	.	.	.	.	.	.	.	.	.	0.791620,8.171	.	AC=10,9,11,1,2;AN=40;DP4=40,19,170,117;DP=627;HOB=0.5;ICB=1;IDV=7;IMF=0.225806;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,6,7,8,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.405613	GT:DP:DV:PL	0/3:15:11:175,.,.,.,.,.,1,.,.,60,.,.,.,.,.,.,.,.,.,.,.	.	.	3/2:17:15:255,.,.,247,.,255,171,.,0,181,.,.,.,.,.,.,.,.,.,.,.	0/3:13:9:.,.,.,.,.,.,.,.,.,81,.,.,.,.,.,.,.,.,.,.,.	.	0/1:17:10:106,0,101,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:13:9:120,.,.,0,.,75,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,240,.,249,153,.,0,152,.,.,.,.,.,.,.,.,.,.,.	.	3/1:23:23:255,255,255,.,.,.,249,0,.,222,.,.,.,.,.,.,.,.,.,.,.	2/1:20:17:.,.,255,.,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:18:15:.,.,.,.,.,151,.,.,.,.,.,.,0,.,203,.,.,.,.,.,.	3/5:13:11:255,.,.,.,.,.,77,.,.,83,.,.,.,.,.,187,.,.,0,.,195	1/2:21:21:255,221,200,245,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:18:14:255,123,182,.,.,.,87,0,.,146,.,.,.,.,.,.,.,.,.,.,.	0/1:16:13:206,7,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:19:7:108,.,.,.,.,.,0,.,.,139,.,.,.,.,.,.,.,.,.,.,.	5/1:14:14:255,154,142,.,.,.,.,.,.,.,.,.,.,.,.,169,0,.,.,.,148	3/2:17:13:255,.,.,135,.,171,101,.,0,137,.,.,.,.,.,.,.,.,.,.,.	3/2:27:27:255,.,.,255,.,255,207,.,0,171,.,.,.,.,.,.,.,.,.,.,.	0/1:9:5:73,0,56,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:16:16:255,203,182,225,0,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:21:19:255,170,203,.,.,.,82,0,.,105,.,.,.,.,.,.,.,.,.,.,.	TA	TTAA,TTTTAA,TTTAA,TTTTTTAA,TAA	0	20	.	.	.	.		.	.	.	.	.	.	.	
L	20	271225	rs3835237	T	TTTA	162.4	PASS	C20orf96	chromosome 20 open reading frame 96	splicing	NM_080571,NM_153269	NM_080571:exon1:c.17+3->TAA;NM_153269:exon1:c.20+7->TAA	.	.	ENST00000400269.3,ENST00000360321.2	CpG: 33	20p13	.	.	.	.	Score=189;Name="2648829:(T)n(Simple_repeat)"	rs3835237	.	.	.	.	.	.	0.0281	0.0201	0.0482955	0.0434783	.	.	.	.	.	.	.	.	.	.	0.800283,8.211	.	AC=10,9,11,1,2;AN=40;DP4=40,19,170,117;DP=627;HOB=0.5;ICB=1;IDV=7;IMF=0.225806;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,6,7,8,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.405613	GT:DP:DV:PL	0/3:15:11:175,.,.,.,.,.,1,.,.,60,.,.,.,.,.,.,.,.,.,.,.	.	.	3/2:17:15:255,.,.,247,.,255,171,.,0,181,.,.,.,.,.,.,.,.,.,.,.	0/3:13:9:.,.,.,.,.,.,.,.,.,81,.,.,.,.,.,.,.,.,.,.,.	.	0/1:17:10:106,0,101,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:13:9:120,.,.,0,.,75,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,240,.,249,153,.,0,152,.,.,.,.,.,.,.,.,.,.,.	.	3/1:23:23:255,255,255,.,.,.,249,0,.,222,.,.,.,.,.,.,.,.,.,.,.	2/1:20:17:.,.,255,.,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:18:15:.,.,.,.,.,151,.,.,.,.,.,.,0,.,203,.,.,.,.,.,.	3/5:13:11:255,.,.,.,.,.,77,.,.,83,.,.,.,.,.,187,.,.,0,.,195	1/2:21:21:255,221,200,245,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:18:14:255,123,182,.,.,.,87,0,.,146,.,.,.,.,.,.,.,.,.,.,.	0/1:16:13:206,7,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:19:7:108,.,.,.,.,.,0,.,.,139,.,.,.,.,.,.,.,.,.,.,.	5/1:14:14:255,154,142,.,.,.,.,.,.,.,.,.,.,.,.,169,0,.,.,.,148	3/2:17:13:255,.,.,135,.,171,101,.,0,137,.,.,.,.,.,.,.,.,.,.,.	3/2:27:27:255,.,.,255,.,255,207,.,0,171,.,.,.,.,.,.,.,.,.,.,.	0/1:9:5:73,0,56,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:16:16:255,203,182,225,0,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:21:19:255,170,203,.,.,.,82,0,.,105,.,.,.,.,.,.,.,.,.,.,.	TA	TTAA,TTTTAA,TTTAA,TTTTTTAA,TAA	0	20	.	.	.	.		.	.	.	.	.	.	.	
L	20	271225	.	T	TTTTTTA	162.4	PASS	C20orf96	chromosome 20 open reading frame 96	splicing	NM_080571,NM_153269	NM_080571:exon1:c.17+3->TAAAAA;NM_153269:exon1:c.20+7->TAAAAA	.	.	ENST00000400269.3,ENST00000360321.2	CpG: 33	20p13	.	.	.	.	Score=189;Name="2648829:(T)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774293,8.090	.	AC=10,9,11,1,2;AN=40;DP4=40,19,170,117;DP=627;HOB=0.5;ICB=1;IDV=7;IMF=0.225806;MQ0F=0;MQ=60;MQSB=1;SF=0,3,4,6,7,8,10,11,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.676189;VDB=0.405613	GT:DP:DV:PL	0/3:15:11:175,.,.,.,.,.,1,.,.,60,.,.,.,.,.,.,.,.,.,.,.	.	.	3/2:17:15:255,.,.,247,.,255,171,.,0,181,.,.,.,.,.,.,.,.,.,.,.	0/3:13:9:.,.,.,.,.,.,.,.,.,81,.,.,.,.,.,.,.,.,.,.,.	.	0/1:17:10:106,0,101,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:13:9:120,.,.,0,.,75,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:19:18:255,.,.,240,.,249,153,.,0,152,.,.,.,.,.,.,.,.,.,.,.	.	3/1:23:23:255,255,255,.,.,.,249,0,.,222,.,.,.,.,.,.,.,.,.,.,.	2/1:20:17:.,.,255,.,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/4:18:15:.,.,.,.,.,151,.,.,.,.,.,.,0,.,203,.,.,.,.,.,.	3/5:13:11:255,.,.,.,.,.,77,.,.,83,.,.,.,.,.,187,.,.,0,.,195	1/2:21:21:255,221,200,245,0,227,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:18:14:255,123,182,.,.,.,87,0,.,146,.,.,.,.,.,.,.,.,.,.,.	0/1:16:13:206,7,38,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:19:7:108,.,.,.,.,.,0,.,.,139,.,.,.,.,.,.,.,.,.,.,.	5/1:14:14:255,154,142,.,.,.,.,.,.,.,.,.,.,.,.,169,0,.,.,.,148	3/2:17:13:255,.,.,135,.,171,101,.,0,137,.,.,.,.,.,.,.,.,.,.,.	3/2:27:27:255,.,.,255,.,255,207,.,0,171,.,.,.,.,.,.,.,.,.,.,.	0/1:9:5:73,0,56,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:16:16:255,203,182,225,0,210,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/1:21:19:255,170,203,.,.,.,82,0,.,105,.,.,.,.,.,.,.,.,.,.,.	TA	TTAA,TTTTAA,TTTAA,TTTTTTAA,TAA	0	20	.	.	.	.		.	.	.	.	.	.	.	PM2
L	20	33507379	rs59343003	AGT	A	86.12	PASS	ACSS2	acyl-CoA synthetase short-chain family member 2	splicing	NM_001076552,NM_001242393,NM_018677	.	.	.	ENST00000253382.5,ENST00000476922.1,ENST00000360596.2,ENST00000336325.4	.	20q11.22	.	.	Score=930;Name=V$HMX1_01	.	Score=396;Name="2707105:(TG)n(Simple_repeat)"	rs59343003	.	.	.	.	.	.	0.0328	0.0280	.	0.13913	.	.	.	.	.	.	.	.	.	.	2.222383,13.39	.	AC=2,2,4,8,1;AN=22;DP4=0,12,0,42;DP=110;HOB=0.5;ICB=1;IDV=7;IMF=0.777778;MQ0F=0;MQ=60;SF=3,4,5,6,7,8,12,15,19,20,23;SGB=-0.616816;VDB=0.122391	GT:DP:DV:PL	.	.	.	1/2:7:6:148,54,72,76,0,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:83,0,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:239,.,.,.,.,.,142,.,.,133,110,.,.,0,101,.,.,.,.,.,.	0/5:4:3:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,50	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.	3/3:7:6:176,.,.,.,.,.,11,.,.,17,.,.,.,.,.,.,.,.,.,.,.	.	.	.	4/3:2:2:111,.,.,.,.,.,57,.,.,54,57,.,.,0,54,.,.,.,.,.,.	.	.	0/4:5:4:167,.,.,.,.,.,.,.,.,.,0,.,.,.,45,.,.,.,.,.,.	.	.	.	0/2:6:2:57,.,.,0,.,127,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:3:3:145,.,.,.,.,.,.,.,.,.,9,.,.,.,0,.,.,.,.,.,.	.	.	0/4:5:4:96,.,.,.,.,.,.,.,.,.,0,.,.,.,49,.,.,.,.,.,.	.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	8	Acetyl-CoA synthetase short-chain family member 2	.	.	.	17762044|11150295|10843999	.	.	LIGASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PYRUVATE_METABOLISM;KEGG_PROPANOATE_METABOLISM	PID_HDAC_CLASSIII_PATHWAY	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ETHANOL_OXIDATION	
L	20	33507379	rs760989979	AGTGTGT	A	86.12	PASS	ACSS2	acyl-CoA synthetase short-chain family member 2	splicing	NM_001076552,NM_001242393,NM_018677	.	.	.	ENST00000253382.5,ENST00000476922.1,ENST00000360596.2,ENST00000336325.4	.	20q11.22	.	.	Score=930;Name=V$HMX1_01	.	Score=396;Name="2707105:(TG)n(Simple_repeat)"	rs760989979	.	.	.	.	.	.	0.0420	0.0291	.	0.0565217	.	.	.	.	.	.	.	.	.	.	2.239649,13.45	.	AC=2,2,4,8,1;AN=22;DP4=0,12,0,42;DP=110;HOB=0.5;ICB=1;IDV=7;IMF=0.777778;MQ0F=0;MQ=60;SF=3,4,5,6,7,8,12,15,19,20,23;SGB=-0.616816;VDB=0.122391	GT:DP:DV:PL	.	.	.	1/2:7:6:148,54,72,76,0,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:83,0,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:239,.,.,.,.,.,142,.,.,133,110,.,.,0,101,.,.,.,.,.,.	0/5:4:3:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,50	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.	3/3:7:6:176,.,.,.,.,.,11,.,.,17,.,.,.,.,.,.,.,.,.,.,.	.	.	.	4/3:2:2:111,.,.,.,.,.,57,.,.,54,57,.,.,0,54,.,.,.,.,.,.	.	.	0/4:5:4:167,.,.,.,.,.,.,.,.,.,0,.,.,.,45,.,.,.,.,.,.	.	.	.	0/2:6:2:57,.,.,0,.,127,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:3:3:145,.,.,.,.,.,.,.,.,.,9,.,.,.,0,.,.,.,.,.,.	.	.	0/4:5:4:96,.,.,.,.,.,.,.,.,.,0,.,.,.,49,.,.,.,.,.,.	.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	8	Acetyl-CoA synthetase short-chain family member 2	.	.	.	17762044|11150295|10843999	.	.	LIGASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PYRUVATE_METABOLISM;KEGG_PROPANOATE_METABOLISM	PID_HDAC_CLASSIII_PATHWAY	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ETHANOL_OXIDATION	
H	20	33507379	rs760091864	A	AGT	86.12	PASS	ACSS2	acyl-CoA synthetase short-chain family member 2	splicing	NM_001076552,NM_001242393,NM_018677	NM_001076552:exon9:c.1011+4->GT;NM_001242393:exon8:c.687+4->GT;NM_018677:exon8:c.972+4->GT	.	.	ENST00000253382.5,ENST00000476922.1,ENST00000360596.2,ENST00000336325.4	.	20q11.22	.	.	Score=930;Name=V$HMX1_01	.	.	rs760091864	.	.	.	.	.	.	0.0082	0.0073	.	0.0478261	.	.	.	.	.	.	.	.	.	.	2.142957,13.12	.	AC=2,2,4,8,1;AN=22;DP4=0,12,0,42;DP=110;HOB=0.5;ICB=1;IDV=7;IMF=0.777778;MQ0F=0;MQ=60;SF=3,4,5,6,7,8,12,15,19,20,23;SGB=-0.616816;VDB=0.122391	GT:DP:DV:PL	.	.	.	1/2:7:6:148,54,72,76,0,93,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:6:3:83,0,135,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/3:7:7:239,.,.,.,.,.,142,.,.,133,110,.,.,0,101,.,.,.,.,.,.	0/5:4:3:81,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,50	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.	3/3:7:6:176,.,.,.,.,.,11,.,.,17,.,.,.,.,.,.,.,.,.,.,.	.	.	.	4/3:2:2:111,.,.,.,.,.,57,.,.,54,57,.,.,0,54,.,.,.,.,.,.	.	.	0/4:5:4:167,.,.,.,.,.,.,.,.,.,0,.,.,.,45,.,.,.,.,.,.	.	.	.	0/2:6:2:57,.,.,0,.,127,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:3:3:145,.,.,.,.,.,.,.,.,.,9,.,.,.,0,.,.,.,.,.,.	.	.	0/4:5:4:96,.,.,.,.,.,.,.,.,.,0,.,.,.,49,.,.,.,.,.,.	.	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	8	Acetyl-CoA synthetase short-chain family member 2	.	.	.	17762044|11150295|10843999	.	.	LIGASE_ACTIVITY	KEGG_GLYCOLYSIS_GLUCONEOGENESIS;KEGG_PYRUVATE_METABOLISM;KEGG_PROPANOATE_METABOLISM	PID_HDAC_CLASSIII_PATHWAY	.	REACTOME_BIOLOGICAL_OXIDATIONS;REACTOME_PHASE1_FUNCTIONALIZATION_OF_COMPOUNDS;REACTOME_ETHANOL_OXIDATION	
L	20	42199704	.	GGTGTGT	G	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	.	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	Score=366;Name="2727043:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0434783	.	.	.	.	.	.	.	.	.	.	2.788515,15.29	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	
L	20	42199704	.	GGTGTGTGTGTGT	G	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	.	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	Score=366;Name="2727043:(TG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	PM2
H	20	42199704	rs796100790	G	GGTGGGTGGGTGT	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	NM_001199264:exon8:c.510+4->GTGGGTGGGTGT;NM_016276:exon7:c.690+4->GTGGGTGGGTGT;NM_170693:exon8:c.510+4->GTGGGTGGGTGT	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	.	rs796100790	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	2.666611,14.88	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	
L	20	42199704	rs796122225	GGT	G	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	.	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	Score=366;Name="2727043:(TG)n(Simple_repeat)"	rs796122225	.	.	.	.	.	.	.	.	.	0.0478261	.	.	.	.	.	.	.	.	.	.	2.805841,15.34	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	
H	20	42199704	.	G	GGTGGGTGGGTGTGT	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	NM_001199264:exon8:c.510+4->GTGGGTGGGTGTGT;NM_016276:exon7:c.690+4->GTGGGTGGGTGTGT;NM_170693:exon8:c.510+4->GTGGGTGGGTGTGT	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108696	.	.	.	.	.	.	.	.	.	.	2.649284,14.82	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	
H	20	42199704	.	G	GGTGGGTGGGT	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	NM_001199264:exon8:c.510+4->GTGGGTGGGT;NM_016276:exon7:c.690+4->GTGGGTGGGT;NM_170693:exon8:c.510+4->GTGGGTGGGT	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.683937,14.94	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	PM2
H	20	42199704	.	G	GGTGGGTGGGTGTGTGT	190.28	PASS	SGK2	serum/glucocorticoid regulated kinase 2	splicing	NM_001199264,NM_016276,NM_170693	NM_001199264:exon8:c.510+4->GTGGGTGGGTGTGTGT;NM_016276:exon7:c.690+4->GTGGGTGGGTGTGTGT;NM_170693:exon8:c.510+4->GTGGGTGGGTGTGTGT	.	.	ENST00000373100.1,ENST00000426287.1,ENST00000341458.4,ENST00000373077.1,ENST00000373092.3,ENST00000423407.3	.	20q13.12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	2.631957,14.76	.	AC=24,5,1,2,2,2,2,1;AN=50;DP4=53,12,200,100;DP=470;HOB=0.5;ICB=1;IDV=9;IMF=0.5;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24;SGB=-0.662043;VDB=0.0516648	GT:DP:DV:PL	0/1:15:9:231,0,158,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/3:16:11:255,.,.,.,.,.,0,.,.,117,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:11:9:224,0,68,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:19:19:255,255,234,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:12:12:255,247,229,236,0,221,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:19:13:255,0,157,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/7:10:9:255,101,96,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,188,0,.,.,.,.,.,188,.,.,.,.,.,.,.,.,.	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:11:11:255,148,127,246,0,237,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:10:10:255,113,92,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/5:15:15:255,85,52,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:8:4:84,0,95,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:17:11:255,0,172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/8:18:11:172,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,189	1/1:9:9:255,56,35,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:28:18:255,0,241,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:21:13:160,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,192,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:13:10:255,0,84,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:18:11:217,0,186,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:14:14:255,235,213,255,0,238,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:13:13:255,152,134,223,0,211,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/6:19:19:255,160,121,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,255,0,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,57,27,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/7:12:12:255,.,.,.,.,.,.,.,.,.,212,.,.,.,197,.,.,.,.,.,.,.,.,.,.,.,.,.,202,.,.,.,0,.,.,187,.,.,.,.,.,.,.,.,.	1/4:10:10:255,115,103,.,.,.,.,.,.,.,167,0,.,.,155,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGGGTGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	22	Serum/glucocorticoid-regulated kinase 2	.	.	.	10548550	SIGNAL_TRANSDUCTION;RESPONSE_TO_STRESS;RESPONSE_TO_CHEMICAL_STIMULUS;RESPONSE_TO_OXIDATIVE_STRESS;PROTEIN_KINASE_CASCADE;INTRACELLULAR_SIGNALING_CASCADE	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;PROTEIN_KINASE_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;AUXILIARY_TRANSPORT_PROTEIN_ACTIVITY;POTASSIUM_CHANNEL_REGULATOR_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;CHANNEL_REGULATOR_ACTIVITY	.	.	.	.	
L	20	46279836	rs749671759	A	ACAGCAG	195.69	PASS	NCOA3	nuclear receptor coactivator 3	exonic	NM_001174087,NM_001174088,NM_006534,NM_181659	.	nonframeshift insertion	NCOA3:NM_001174087:exon20:c.3759_3760insCAGCAG:p.Q1253delinsQQQ,NCOA3:NM_001174088:exon20:c.3735_3736insCAGCAG:p.Q1245delinsQQQ,NCOA3:NM_006534:exon20:c.3750_3751insCAGCAG:p.Q1250delinsQQQ,NCOA3:NM_181659:exon20:c.3762_3763insCAGCAG:p.Q1254delinsQQQ	ENST00000371998.3,ENST00000341724.6,ENST00000372004.3,ENST00000371997.3	.	20q13.12	.	.	.	.	Score=657;Name="2737548:(CAG)n(Simple_repeat)"	rs749671759	.	.	.	.	.	.	0.0006	0.0076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=14,2;AN=30;DP4=160,54,146,65;DP=555;HOB=0.5;ICB=1;IDV=15;IMF=0.365854;MQ0F=0;MQ=60;MQSB=1;SF=0,1,5,8,9,10,11,13,14,15,18,20,21,22,23;SGB=-0.690438;VDB=0.207032	GT:DP:DV:PL	0/1:33:17:255,0,255,.,.,.	1/1:17:17:255,51,0,.,.,.	.	.	.	0/1:35:19:255,0,255,.,.,.	.	.	0/1:25:12:255,0,255,.,.,.	0/1:22:7:225,0,255,.,.,.	0/1:20:10:252,0,255,.,.,.	0/1:31:12:255,0,255,.,.,.	.	0/1:29:15:255,0,255,.,.,.	0/1:24:10:255,0,255,.,.,.	0/1:16:15:255,0,12,.,.,.	.	.	0/2:33:21:255,.,.,0,.,148	.	0/1:31:4:85,0,255,.,.,.	0/2:48:27:255,.,.,0,.,197	0/1:29:21:255,0,207,.,.,.	0/1:32:4:72,0,255,.,.,.	.	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCA,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	1	14	Nuclear receptor coactivator 3 (amplified in breast cancer-1)	.	.	.	18922467|17360478|17349961|17098861|16675958|16439211|14684685|11823864|11502741|11279242|11163181|9727751|9346901|9267036|9252329|8758910	.	.	TRANSFERASE_ACTIVITY_TRANSFERRING_ACYL_GROUPS;N_ACETYLTRANSFERASE_ACTIVITY;PROTEIN_N_TERMINUS_BINDING;HISTONE_ACETYLTRANSFERASE_ACTIVITY;N_ACYLTRANSFERASE_ACTIVITY;ACETYLTRANSFERASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_GROUPS_OTHER_THAN_AMINO_ACYL_GROUPS	.	PID_ERB_GENOMIC_PATHWAY;PID_ERA_GENOMIC_PATHWAY;PID_RETINOIC_ACID_PATHWAY;PID_HNF3APATHWAY	BIOCARTA_VDR_PATHWAY;BIOCARTA_RARRXR_PATHWAY;BIOCARTA_CARM1_PATHWAY	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_BMAL1_CLOCK_NPAS2_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_RORA_ACTIVATES_CIRCADIAN_EXPRESSION;REACTOME_YAP1_AND_WWTR1_TAZ_STIMULATED_GENE_EXPRESSION;REACTOME_CIRCADIAN_REPRESSION_OF_EXPRESSION_BY_REV_ERBA;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_CIRCADIAN_CLOCK;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	
L	22	20918816	rs747865184	ACAG	A	64	PASS	MED15	mediator complex subunit 15	exonic	NM_001003891,NM_001293234,NM_001293235,NM_001293236,NM_001293237,NM_015889	.	nonframeshift deletion	MED15:NM_001293236:exon5:c.319_321del:p.107_107del,MED15:NM_001003891:exon6:c.532_534del:p.178_178del,MED15:NM_001293234:exon6:c.532_534del:p.178_178del,MED15:NM_001293235:exon6:c.454_456del:p.152_152del,MED15:NM_001293237:exon6:c.454_456del:p.152_152del,MED15:NM_015889:exon6:c.532_534del:p.178_178del	ENST00000382974.2,ENST00000263205.7,ENST00000541476.1,ENST00000542773.1,ENST00000292733.7,ENST00000406969.1,ENST00000425759.2	.	22q11.21	.	.	.	.	Score=668;Name="2841332:(CAG)n(Simple_repeat)"	rs747865184	.	.	.	.	.	.	0.0191	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	1.604919,11.32	.	AC=1;AN=2;DP4=9,12,1,2;DP=31;HOB=0.5;ICB=1;IDV=3;IMF=0.0967742;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.511536;VDB=0.093744	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:24:3:100,0,255	.	.	.	.	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	0	1	Mediator complex subunit 15	.	.	.	16799563|12167862|11414760|11024300|10235267	.	.	.	.	PID_SMAD2_3NUCLEARPATHWAY	.	REACTOME_DEVELOPMENTAL_BIOLOGY;REACTOME_PPARA_ACTIVATES_GENE_EXPRESSION;REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS;REACTOME_FATTY_ACID_TRIACYLGLYCEROL_AND_KETONE_BODY_METABOLISM;REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION	
L	22	23653975	rs372013175	T	TCCGG	92.84	PASS	BCR	breakpoint cluster region	exonic	NM_004327,NM_021574	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.S1048fs,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.S1092fs	ENST00000359540.3,ENST00000436990.2,ENST00000305877.8	.	22q11.23	.	.	.	Score=0.964851;Name=chr22:25039400	.	rs372013175	.	.	.	.	.	.	.	.	.	0.173913	.	.	.	.	.	.	.	.	.	.	.	.	AC=14;AN=28;DP4=51,63,14,54;DP=216;HOB=0.5;ICB=1;IDV=5;IMF=0.3125;MQ0F=0;MQ=54;MQSB=0.64118;SF=1,3,4,5,9,10,12,13,14,15,16,20,21,24;SGB=-0.590765;VDB=0.00595099	GT:DP:DV:PL	.	0/1:15:5:139,0,255	.	0/1:19:7:176,0,255	0/1:10:6:172,0,183	0/1:22:7:145,0,255	.	.	.	0/1:10:4:109,0,195	0/1:7:3:89,0,158	.	0/1:15:5:124,0,255	0/1:19:3:60,0,255	0/1:8:3:77,0,202	0/1:8:3:97,0,178	0/1:12:6:175,0,255	.	.	.	0/1:6:4:146,0,102	0/1:16:7:140,0,255	.	.	0/1:15:5:122,0,255	TCCGG	TCCGGCCGG	0	14	Leukemia, chronic myeloid, somatic, 608232 (3); Leukemia, acute lymphocytic, somatic, 613065 (3)	.	.	.	21593872|21248843|19169242|18772113|18408710|14534339|14427847|12654249|12393533|12181416|12114534|12023981|11986250|11870247|11753385|11739186|11423618|11289094|11287980|11287973|11287972|11027300|10952298|10615128|10461204|9310467|8348145|8204872|8204871|8183938|7894478|7889565|7723413|7723412|7665185|7012623|6997180|6960256|6934005|6932994|6930307|6584200|6574316|6572735|6467987|6402307|6319012|6289313|6147726|4126434|3864009|3857461|3540951|3513189|3461479|3299055|3267213|3118359|3107980|3101769|3023859|2989703|2989692|2875753|2833755|2820585|2595371|2406902|2237408|2179728|1975791|1903516|1657398|1406953|1067222|730541	BIOPOLYMER_METABOLIC_PROCESS;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	.	PHOSPHOTRANSFERASE_ACTIVITY_ALCOHOL_GROUP_AS_ACCEPTOR;GTPASE_REGULATOR_ACTIVITY;ENZYME_ACTIVATOR_ACTIVITY;PROTEIN_KINASE_ACTIVITY;ENZYME_REGULATOR_ACTIVITY;KINASE_ACTIVITY;PROTEIN_SERINE_THREONINE_KINASE_ACTIVITY;TRANSFERASE_ACTIVITY_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS;GTPASE_ACTIVATOR_ACTIVITY	KEGG_PATHWAYS_IN_CANCER;KEGG_CHRONIC_MYELOID_LEUKEMIA	PID_RHOA_REG_PATHWAY;PID_RAC1_REG_PATHWAY	BIOCARTA_GLEEVEC_PATHWAY;BIOCARTA_INTEGRIN_PATHWAY	REACTOME_SIGNALING_BY_RHO_GTPASES;REACTOME_SIGNALING_BY_FGFR_IN_DISEASE;REACTOME_SIGNALING_BY_FGFR1_MUTANTS;REACTOME_SIGNALING_BY_FGFR1_FUSION_MUTANTS;REACTOME_SIGNALING_BY_FGFR_MUTANTS	PVS1
L	22	29885580	.	A	AAGGCCAAGGCCCCTGAGT	212.95	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	stopgain	NEFH:NM_021076:exon4:c.1951_1952insAGGCCAAGGCCCCTGAGT:p.K651delinsKAKAPEX	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,18,2,2,1;AN=38;DP4=513,322,615,562;DP=4427;HOB=0.5;ICB=1;IDV=5;IMF=0.0213675;MQ0F=0;MQ=55;MQSB=0.18411;SF=0,2,3,4,7,8,9,10,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.618989	GT:DP:DV:PL	0/2:95:59:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:156:44:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:80:31:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:131:109:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:87:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:89:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:103:85:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:84:49:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/2:102:68:255,.,.,255,.,255,146,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/2:112:79:255,.,.,24,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:127:86:.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,0,.,.,245	4/2:146:116:255,.,.,255,.,255,.,.,.,.,247,.,0,.,255,.,.,.,.,.,.	0/2:79:38:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:86:47:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:80:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:130:65:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:56:46:255,.,.,255,.,255,.,.,.,.,234,.,0,.,255,.,.,.,.,.,.	0/2:167:46:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:102:57:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	AAGGCCAAGGCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGCAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGGAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	0	19	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2
L	22	29885580	rs200984527	AAGGCCAAGTCCCCAGAGAAGGAAG	A	212.95	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift deletion	NEFH:NM_021076:exon4:c.1952_1975del:p.651_659del	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	rs200984527	CLINSIG=not provided;CLNDBN=not_provided;CLNACC=RCV000057187.1;CLNDSDB=MedGen;CLNDSDBID=CN221809	.	.	.	.	.	0.0005	0.0001	0.0142045	0.00434783	.	.	.	.	.	.	.	.	.	.	0.143490,4.772	.	AC=1,18,2,2,1;AN=38;DP4=513,322,615,562;DP=4427;HOB=0.5;ICB=1;IDV=5;IMF=0.0213675;MQ0F=0;MQ=55;MQSB=0.18411;SF=0,2,3,4,7,8,9,10,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.618989	GT:DP:DV:PL	0/2:95:59:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:156:44:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:80:31:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:131:109:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:87:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:89:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:103:85:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:84:49:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/2:102:68:255,.,.,255,.,255,146,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/2:112:79:255,.,.,24,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:127:86:.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,0,.,.,245	4/2:146:116:255,.,.,255,.,255,.,.,.,.,247,.,0,.,255,.,.,.,.,.,.	0/2:79:38:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:86:47:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:80:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:130:65:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:56:46:255,.,.,255,.,255,.,.,.,.,234,.,0,.,255,.,.,.,.,.,.	0/2:167:46:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:102:57:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	AAGGCCAAGGCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGCAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGGAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	0	19	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM4
L	22	29885580	.	A	AAGGCCAAGTCCCCTGAGT	212.95	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	stopgain	NEFH:NM_021076:exon4:c.1951_1952insAGGCCAAGTCCCCTGAGT:p.K651delinsKAKSPEX	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,18,2,2,1;AN=38;DP4=513,322,615,562;DP=4427;HOB=0.5;ICB=1;IDV=5;IMF=0.0213675;MQ0F=0;MQ=55;MQSB=0.18411;SF=0,2,3,4,7,8,9,10,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.618989	GT:DP:DV:PL	0/2:95:59:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:156:44:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:80:31:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:131:109:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:87:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:89:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:103:85:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:84:49:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/2:102:68:255,.,.,255,.,255,146,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/2:112:79:255,.,.,24,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:127:86:.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,0,.,.,245	4/2:146:116:255,.,.,255,.,255,.,.,.,.,247,.,0,.,255,.,.,.,.,.,.	0/2:79:38:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:86:47:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:80:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:130:65:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:56:46:255,.,.,255,.,255,.,.,.,.,234,.,0,.,255,.,.,.,.,.,.	0/2:167:46:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:102:57:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	AAGGCCAAGGCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGCAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGGAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	0	19	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2
L	22	29885580	.	A	AAGGCCAAGTCCCCTGAGC	212.95	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1951_1952insAGGCCAAGTCCCCTGAGC:p.K651delinsKAKSPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,18,2,2,1;AN=38;DP4=513,322,615,562;DP=4427;HOB=0.5;ICB=1;IDV=5;IMF=0.0213675;MQ0F=0;MQ=55;MQSB=0.18411;SF=0,2,3,4,7,8,9,10,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.618989	GT:DP:DV:PL	0/2:95:59:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:156:44:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:80:31:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:131:109:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:87:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:89:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:103:85:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:84:49:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/2:102:68:255,.,.,255,.,255,146,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/2:112:79:255,.,.,24,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:127:86:.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,0,.,.,245	4/2:146:116:255,.,.,255,.,255,.,.,.,.,247,.,0,.,255,.,.,.,.,.,.	0/2:79:38:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:86:47:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:80:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:130:65:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:56:46:255,.,.,255,.,255,.,.,.,.,234,.,0,.,255,.,.,.,.,.,.	0/2:167:46:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:102:57:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	AAGGCCAAGGCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGCAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGGAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	0	19	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885580	.	A	AAGGCCAAGTCCCCTGAGG	212.95	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1951_1952insAGGCCAAGTCCCCTGAGG:p.K651delinsKAKSPEE	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	0.00284091	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1,18,2,2,1;AN=38;DP4=513,322,615,562;DP=4427;HOB=0.5;ICB=1;IDV=5;IMF=0.0213675;MQ0F=0;MQ=55;MQSB=0.18411;SF=0,2,3,4,7,8,9,10,12,14,15,16,17,18,20,21,22,23,24;SGB=-0.693147;VDB=0.618989	GT:DP:DV:PL	0/2:95:59:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:156:44:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:80:31:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	3/2:131:109:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	.	0/2:87:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:89:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/2:103:85:255,255,255,255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:84:49:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	3/2:102:68:255,.,.,255,.,255,146,.,0,255,.,.,.,.,.,.,.,.,.,.,.	.	0/2:112:79:255,.,.,24,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/5:127:86:.,.,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,0,.,.,245	4/2:146:116:255,.,.,255,.,255,.,.,.,.,247,.,0,.,255,.,.,.,.,.,.	0/2:79:38:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:86:47:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/2:80:52:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:130:65:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/2:56:46:255,.,.,255,.,255,.,.,.,.,234,.,0,.,255,.,.,.,.,.,.	0/2:167:46:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:102:57:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	AAGGCCAAGGCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGTAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGCAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC,AAGGCCAAGTCCCCTGAGGAGGCCAAGTCCCCAGAGAAGGAAGAGGCCAAGTCCCC	0	19	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885588	.	G	GTCCCCTGAGAAGGCCAAT	218	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1959_1960insTCCCCTGAGAAGGCCAAT:p.K653delinsKSPEKAN	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=1;AN=2;DP4=18,8,56,43;DP=208;HOB=0.5;ICB=1;IDV=2;IMF=0.00934579;MQ0F=0;MQ=57;MQSB=0.351144;SF=20;SGB=-0.693147;VDB=8.85232e-06	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:125:99:255,0,74	.	.	.	.	GTCCCC	GTCCCCTGAGAAGGCCAATTCCCC	0	1	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885598	rs149571560	AAGGAAG	A	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift deletion	NEFH:NM_021076:exon4:c.1970_1975del:p.657_659del	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	rs149571560	.	.	.	.	.	.	0.0007	0.0005	0.0454545	0.0173913	.	.	.	.	.	.	.	.	.	.	0.247754,5.338	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM4
L	22	29885598	.	A	AAGGCCAAGTCCCCAGAGC	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1969_1970insAGGCCAAGTCCCCAGAGC:p.K657delinsKAKSPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885598	.	A	AAGGCCAATCCCCCAGAGC	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1969_1970insAGGCCAATCCCCCAGAGC:p.K657delinsKANPPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885598	.	A	AAGGCCAAGTCCCCCGAGC	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1969_1970insAGGCCAAGTCCCCCGAGC:p.K657delinsKAKSPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885598	.	A	AAGGCCCAGTCCCCAGAGC	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1969_1970insAGGCCCAGTCCCCAGAGC:p.K657delinsKAQSPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
L	22	29885598	.	A	AAGGCCAATTCCCCAGAGC	197.41	PASS	NEFH	neurofilament, heavy polypeptide	exonic	NM_021076	.	nonframeshift insertion	NEFH:NM_021076:exon4:c.1969_1970insAGGCCAATTCCCCAGAGC:p.K657delinsKANSPEQ	ENST00000310624.6	.	22q12.2	.	.	.	Score=0.925852;Name=chr1:117282035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=15,1,1,1,1,1;AN=36;DP4=558,467,340,294;DP=3949;HOB=0.5;ICB=1;IDV=35;IMF=0.159091;MQ0F=0;MQ=56;MQSB=0.325374;SF=0,1,3,4,5,7,8,9,10,12,14,15,16,17,18,20,21,24;SGB=-0.693147;VDB=0.529761	GT:DP:DV:PL	3/1:106:65:255,67,255,.,.,.,81,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:78:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:81:17:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:69:15:247,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/2:191:48:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:72:28:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/1:120:85:255,202,255,.,.,.,.,.,.,.,.,.,.,.,.,62,0,.,.,.,255,.,.,.,.,.,.,.	0/1:55:11:186,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:71:21:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:52:7:141,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/1:82:22:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:23:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:72:9:80,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	0/6:118:79:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,.,255	0/1:81:25:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	0/4:128:96:255,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.	0/1:127:33:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	0/1:84:29:255,0,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	AAGGAAGAGG	AAGG,AAGGCCAAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATCCCCCAGAGCAGGAAGAGG,AAGGCCAAGTCCCCCGAGCAGGAAGAGG,AAGGCCCAGTCCCCAGAGCAGGAAGAGG,AAGGCCAATTCCCCAGAGCAGGAAGAGG	0	18	?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)	.	.	.	9931323|9875737|9763431|9763430|9763429|9763415|8871580|8618684|8401507|8379998|8102569|7849698|7536898|3192217|3138108	.	AXON;CELL_PROJECTION;NEURON_PROJECTION	.	KEGG_AMYOTROPHIC_LATERAL_SCLEROSIS_ALS	.	.	.	PM2,PM4
H	22	31059929	rs544877040	G	GA	222	PASS	DUSP18	dual specificity phosphatase 18	exonic	NM_001304794,NM_001304795,NM_001304796,NM_152511	.	frameshift insertion	DUSP18:NM_001304795:exon2:c.61dupT:p.S21fs,DUSP18:NM_001304796:exon2:c.61dupT:p.S21fs,DUSP18:NM_152511:exon2:c.61dupT:p.S21fs,DUSP18:NM_001304794:exon3:c.61dupT:p.S21fs	ENST00000334679.3,ENST00000407308.1,ENST00000461301.1,ENST00000404885.1,ENST00000403268.1	.	22q12.2	.	.	.	.	.	rs544877040	.	.	0.00664452	0.006	0.00119808	0.0002	0.0003	0.0031	0.00382848226646	0.00664452	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=4;DP4=24,40,36,33;DP=165;HOB=0.5;ICB=1;IDV=27;IMF=0.369863;MQ0F=0;MQ=60;MQSB=1;SF=20,21;SGB=-0.692914;VDB=0.0117041	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:56:25:255,0,255	0/1:77:44:255,0,255	.	.	.	GA	GAA	0	2	.	.	.	.		.	.	.	.	.	.	.	
H	22	50927462	.	T	TCCTGTCCCG	219.5	PASS	MIOX	myo-inositol oxygenase	splicing	NM_017584	NM_017584:exon6:c.409-7->CCTGTCCCG	.	.	ENST00000395733.3,ENST00000395732.3,ENST00000216075.6	.	22q13.33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=4;DP4=29,5,62,8;DP=138;HOB=0.5;ICB=1;IDV=5;IMF=0.0806452;MQ0F=0;MQ=60;MQSB=1;SF=12,20;SGB=-0.693132;VDB=0.010676	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	0/1:43:34:255,0,70	.	.	.	.	.	.	.	0/1:61:36:255,0,184	.	.	.	.	TC	TCCTGTCCCGC	0	2	.	.	.	.		CELLULAR_CATABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_METABOLIC_PROCESS;ALCOHOL_METABOLIC_PROCESS;MACROMOLECULE_CATABOLIC_PROCESS;CELLULAR_MACROMOLECULE_CATABOLIC_PROCESS;CARBOHYDRATE_METABOLIC_PROCESS;CELLULAR_CARBOHYDRATE_CATABOLIC_PROCESS;CATABOLIC_PROCESS;CARBOHYDRATE_CATABOLIC_PROCESS	CYTOPLASM	ALDO_KETO_REDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_GO_0016616;OXIDOREDUCTASE_ACTIVITY;OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS	KEGG_ASCORBATE_AND_ALDARATE_METABOLISM;KEGG_INOSITOL_PHOSPHATE_METABOLISM	.	.	.	PM2
H	22	50942132	rs777408872	T	TGGGA	228	PASS	LMF2	lipase maturation factor 2	splicing	NM_033200	NM_033200:exon14:c.1816-4->TCCC	.	.	ENST00000216080.5,ENST00000474879.2,ENST00000380796.3	.	22q13.33	.	.	.	.	.	rs777408872	.	.	.	.	.	.	0.0013	0.0086	0.00568182	0.0130435	.	.	.	.	.	.	.	.	.	.	0.447189,6.428	.	AC=2;AN=2;DP4=0,0,31,0;DP=37;IDV=31;IMF=0.837838;MQ0F=0;MQ=60;SF=20;SGB=-0.69311;VDB=0.000423643	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:31:31:255,93,0	.	.	.	.	TGGGAGGGAGGGAGGGAGGGAGG	TGGGAGGGAGGGAGGGAGGGAGGGAGG	1	0	.	.	.	.		.	.	.	.	.	.	.	
H	X	18582646	rs745969938	G	GAT	35.07	PASS	CDKL5	cyclin-dependent kinase-like 5	splicing	NM_001037343,NM_003159	NM_001037343:exon5:c.145+4->AT;NM_003159:exon4:c.145+4->AT	.	.	ENST00000379996.3,ENST00000379989.3	.	Xp22.13	.	.	.	.	.	rs745969938	.	.	.	.	.	0.0265	0.0274	0.0122	.	0.00869565	.	.	.	.	.	.	.	.	.	.	0.835221,8.371	.	AC=4,1;AN=10;DP4=1,18,4,14;DP=70;HOB=0.5;ICB=1;IDV=3;IMF=0.166667;MQ0F=0;MQ=60;MQSB=1;SF=2,3,7,12,20;SGB=-0.453602;VDB=0.720054	GT:DP:DV:PL	.	.	0/1:7:2:64,0,102,.,.,.	0/1:12:8:114,0,88,.,.,.	.	.	.	0/1:9:3:56,0,148,.,.,.	.	.	.	.	0/2:5:2:54,.,.,0,.,79	.	.	.	.	.	.	.	0/1:4:3:54,0,25,.,.,.	.	.	.	.	GATATATATATATATATATATATAT	GATATATATATATATATATATAT,GATATATATATATATATATATATATAT	0	5	Epileptic encephalopathy, early infantile, 2, 300672 (3)	.	.	.	21748340|21318334|21293276|21124335|19793311|19740913|19471977|19396824|19241098|18809835|17993579|17256798|17089071|16813600|16708070|16611748|16330482|15917271|15689447|15499549|15492925|12736870|9721213	PROTEIN_AUTOPROCESSING;BIOPOLYMER_METABOLIC_PROCESS;PROTEIN_AMINO_ACID_AUTOPHOSPHORYLATION;POST_TRANSLATIONAL_PROTEIN_MODIFICATION;CELLULAR_PROTEIN_METABOLIC_PROCESS;BIOPOLYMER_MODIFICATION;PROTEIN_PROCESSING;PROTEIN_METABOLIC_PROCESS;PROTEIN_MODIFICATION_PROCESS;PROTEIN_AMINO_ACID_PHOSPHORYLATION;CELLULAR_MACROMOLECULE_METABOLIC_PROCESS;PHOSPHORYLATION	NUCLEUS	NUCLEOTIDE_BINDING;PURINE_NUCLEOTIDE_BINDING;ADENYL_RIBONUCLEOTIDE_BINDING;ADENYL_NUCLEOTIDE_BINDING;PURINE_RIBONUCLEOTIDE_BINDING;ATP_BINDING	.	.	.	.	
L	X	24382373	rs758306853	TTGCTGC	T	171.64	PASS	SUPT20HL1	suppressor of Ty 20 homolog (S. cerevisiae)-like 1	exonic	NM_001136234	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1497_1502del:p.499_501del	.	.	Xp22.11	.	.	.	Score=0.936428;Name=chrX:24326510	Score=1032;Name="5037458:(CTG)n(Simple_repeat)"	rs758306853	.	.	.	.	.	.	0.0063	0.0018	.	0.00869565	.	.	.	.	.	.	.	.	.	.	-0.821185,0.621	.	AC=8,4,2,2,2,8,2;AN=28;DP4=0,0,56,124;DP=1065;IDV=18;IMF=0.305085;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,6,8,10,12,13,14,15,16,20,24;SGB=-0.690438;VDB=0.000362888	GT:DP:DV:PL	.	6/6:17:17:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,51,.,.,.,.,.,0,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/7:7:7:209,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,.,.,0	.	2/2:5:5:122,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:53,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:26:26:255,75,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:19:19:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,.,.,.,.,.,0,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,.,0,.,.,.,.,.,.,.,.	3/3:16:16:255,.,.,.,.,.,56,.,.,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:15:15:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,45,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:11:11:255,.,.,.,.,.,.,.,.,.,31,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:1:1:60,.,.,3,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	6/6:30:30:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,87,.,.,.,.,.,0,.,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	14	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	24382373	rs756344204	T	TTGCTGCTGC	171.64	PASS	SUPT20HL1	suppressor of Ty 20 homolog (S. cerevisiae)-like 1	exonic	NM_001136234	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1496_1497insTGCTGCTGC:p.I499delinsIAAA	.	.	Xp22.11	.	.	.	Score=0.936428;Name=chrX:24326510	Score=1032;Name="5037458:(CTG)n(Simple_repeat)"	rs756344204	.	.	.	.	.	.	0.0443	0.0267	.	0.0869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=8,4,2,2,2,8,2;AN=28;DP4=0,0,56,124;DP=1065;IDV=18;IMF=0.305085;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,6,8,10,12,13,14,15,16,20,24;SGB=-0.690438;VDB=0.000362888	GT:DP:DV:PL	.	6/6:17:17:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,51,.,.,.,.,.,0,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/7:7:7:209,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,.,.,0	.	2/2:5:5:122,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:53,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:26:26:255,75,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:19:19:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,.,.,.,.,.,0,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,.,0,.,.,.,.,.,.,.,.	3/3:16:16:255,.,.,.,.,.,56,.,.,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:15:15:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,45,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:11:11:255,.,.,.,.,.,.,.,.,.,31,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:1:1:60,.,.,3,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	6/6:30:30:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,87,.,.,.,.,.,0,.,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	14	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	24382373	rs756344204	T	TTGCTGC	171.64	PASS	SUPT20HL1	suppressor of Ty 20 homolog (S. cerevisiae)-like 1	exonic	NM_001136234	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1496_1497insTGCTGC:p.I499delinsIAA	.	.	Xp22.11	.	.	.	Score=0.936428;Name=chrX:24326510	Score=1032;Name="5037458:(CTG)n(Simple_repeat)"	rs756344204	.	.	.	.	.	.	0.0132	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	-0.794519,0.691	.	AC=8,4,2,2,2,8,2;AN=28;DP4=0,0,56,124;DP=1065;IDV=18;IMF=0.305085;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,6,8,10,12,13,14,15,16,20,24;SGB=-0.690438;VDB=0.000362888	GT:DP:DV:PL	.	6/6:17:17:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,51,.,.,.,.,.,0,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/7:7:7:209,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,.,.,0	.	2/2:5:5:122,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:53,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:26:26:255,75,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:19:19:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,.,.,.,.,.,0,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,.,0,.,.,.,.,.,.,.,.	3/3:16:16:255,.,.,.,.,.,56,.,.,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:15:15:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,45,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:11:11:255,.,.,.,.,.,.,.,.,.,31,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:1:1:60,.,.,3,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	6/6:30:30:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,87,.,.,.,.,.,0,.,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	14	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	24382373	.	TTGCTGCTGC	T	171.64	PASS	SUPT20HL1	suppressor of Ty 20 homolog (S. cerevisiae)-like 1	exonic	NM_001136234	.	nonframeshift deletion	SUPT20HL1:NM_001136234:exon1:c.1497_1505del:p.499_502del	.	.	Xp22.11	.	.	.	Score=0.936428;Name=chrX:24326510	Score=1032;Name="5037458:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0391304	.	.	.	.	.	.	.	.	.	.	-0.721973,0.902	.	AC=8,4,2,2,2,8,2;AN=28;DP4=0,0,56,124;DP=1065;IDV=18;IMF=0.305085;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,6,8,10,12,13,14,15,16,20,24;SGB=-0.690438;VDB=0.000362888	GT:DP:DV:PL	.	6/6:17:17:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,51,.,.,.,.,.,0,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/7:7:7:209,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,.,.,0	.	2/2:5:5:122,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:53,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:26:26:255,75,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:19:19:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,.,.,.,.,.,0,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,.,0,.,.,.,.,.,.,.,.	3/3:16:16:255,.,.,.,.,.,56,.,.,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:15:15:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,45,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:11:11:255,.,.,.,.,.,.,.,.,.,31,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:1:1:60,.,.,3,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	6/6:30:30:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,87,.,.,.,.,.,0,.,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	14	0	.	.	.	.		.	.	.	.	.	.	.	
L	X	24382373	.	T	TTGCTGCTGCTGCTGCTGCTGC	171.64	PASS	SUPT20HL1	suppressor of Ty 20 homolog (S. cerevisiae)-like 1	exonic	NM_001136234	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1496_1497insTGCTGCTGCTGCTGCTGCTGC:p.I499delinsIAAAAAAA	.	.	Xp22.11	.	.	.	Score=0.936428;Name=chrX:24326510	Score=1032;Name="5037458:(CTG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=8,4,2,2,2,8,2;AN=28;DP4=0,0,56,124;DP=1065;IDV=18;IMF=0.305085;MQ0F=0;MQ=60;MQSB=1;SF=1,2,3,5,6,8,10,12,13,14,15,16,20,24;SGB=-0.690438;VDB=0.000362888	GT:DP:DV:PL	.	6/6:17:17:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,51,.,.,.,.,.,0,.,.,.,.,.,.,.,.	1/1:1:1:60,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	7/7:7:7:209,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,18,.,.,.,.,.,.,0	.	2/2:5:5:122,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:1:1:53,3,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:26:26:255,75,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	6/6:19:19:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,57,.,.,.,.,.,0,.,.,.,.,.,.,.,.	.	1/1:17:17:255,51,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/6:14:14:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,42,.,.,.,.,.,0,.,.,.,.,.,.,.,.	3/3:16:16:255,.,.,.,.,.,56,.,.,17,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:15:15:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,45,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:11:11:255,.,.,.,.,.,.,.,.,.,31,.,.,.,1,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	2/2:1:1:60,.,.,3,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	6/6:30:30:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,87,.,.,.,.,.,0,.,.,.,.,.,.,.,.	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT,TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	14	0	.	.	.	.		.	.	.	.	.	.	.	PM2
L	X	27765399	rs757042670	AGAGGAG	A	210.5	PASS	DCAF8L2	DDB1 and CUL4 associated factor 8-like 2	exonic	NM_001136533	.	nonframeshift deletion	DCAF8L2:NM_001136533:exon1:c.388_393del:p.130_131del	ENST00000451261.2	.	Xp21.3	.	.	.	Score=0.902387;Name=chrX:27994482	Score=603;Name="5043522:GA-rich(Low_complexity)"	rs757042670	.	.	.	.	.	.	0.0036	0.0113	.	0.113043	.	.	.	.	.	.	.	.	.	.	-0.568710,1.437	.	AC=17,8,4,2;AN=32;DP4=11,2,257,45;DP=538;HOB=0.5;ICB=1;IDV=19;IMF=0.612903;MQ0F=0;MQ=60;MQSB=1;SF=0,2,4,5,6,7,8,12,14,15,16,19,20,21,22,24;SGB=-0.688148;VDB=0.00236008	GT:DP:DV:PL	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:27:27:255,106,31,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:3:3:151,.,.,9,.,0,.,.,.,.,.,.,.,.,.	2/3:36:36:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:10:10:255,.,.,.,.,.,57,.,.,30,.,.,.,.,.	1/1:40:40:255,120,0,.,.,.,.,.,.,.,.,.,.,.,.	0/2:25:13:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	.	.	1/1:27:27:255,78,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:17:17:255,57,9,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,36,.,0,.,.,.,.,.,.,.,.,.	.	.	1/1:12:12:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/1:33:33:255,255,255,191,0,106,.,.,.,.,.,.,.,.,.	1/1:17:16:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:255,.,.,188,.,170,224,.,0,203,.,.,.,.,.	.	4/4:16:16:255,.,.,.,.,.,.,.,.,.,48,.,.,.,0	AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	12	4	.	.	.	.		.	.	.	.	.	.	.	
L	X	27765399	rs759326288	AGAG	A	210.5	PASS	DCAF8L2	DDB1 and CUL4 associated factor 8-like 2	exonic	NM_001136533	.	nonframeshift deletion	DCAF8L2:NM_001136533:exon1:c.388_390del:p.130_130del	ENST00000451261.2	.	Xp21.3	.	.	.	Score=0.902387;Name=chrX:27994482	Score=603;Name="5043522:GA-rich(Low_complexity)"	rs759326288	.	.	.	.	.	.	.	.	.	0.121739	.	.	.	.	.	.	.	.	.	.	-0.648184,1.146	.	AC=17,8,4,2;AN=32;DP4=11,2,257,45;DP=538;HOB=0.5;ICB=1;IDV=19;IMF=0.612903;MQ0F=0;MQ=60;MQSB=1;SF=0,2,4,5,6,7,8,12,14,15,16,19,20,21,22,24;SGB=-0.688148;VDB=0.00236008	GT:DP:DV:PL	1/1:15:15:255,45,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:27:27:255,106,31,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:3:3:151,.,.,9,.,0,.,.,.,.,.,.,.,.,.	2/3:36:36:255,.,.,255,.,255,255,.,0,255,.,.,.,.,.	3/3:10:10:255,.,.,.,.,.,57,.,.,30,.,.,.,.,.	1/1:40:40:255,120,0,.,.,.,.,.,.,.,.,.,.,.,.	0/2:25:13:255,.,.,0,.,255,.,.,.,.,.,.,.,.,.	.	.	.	1/1:27:27:255,78,0,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:17:17:255,57,9,.,.,.,.,.,.,.,.,.,.,.,.	1/1:12:12:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/2:12:12:255,.,.,36,.,0,.,.,.,.,.,.,.,.,.	.	.	1/1:12:12:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/1:33:33:255,255,255,191,0,106,.,.,.,.,.,.,.,.,.	1/1:17:16:255,36,0,.,.,.,.,.,.,.,.,.,.,.,.	2/3:13:13:255,.,.,188,.,170,224,.,0,203,.,.,.,.,.	.	4/4:16:16:255,.,.,.,.,.,.,.,.,.,48,.,.,.,0	AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	12	4	.	.	.	.		.	.	.	.	.	.	.	
L	X	38145348	rs753744103	CTCT	C	50	PASS	RPGR	retinitis pigmentosa GTPase regulator	exonic	NM_001034853	.	nonframeshift deletion	RPGR:NM_001034853:exon15:c.2901_2903del:p.967_968del	ENST00000338898.3,ENST00000465127.1,ENST00000339363.3,ENST00000318842.7,ENST00000309513.3,ENST00000378505.2,ENST00000342811.3	.	Xp11.4	.	.	.	.	.	rs753744103	.	.	0.0195652	0.0223	0.032053	0.0394	0.0031	0	.	0.0195652	.	.	.	.	.	.	.	.	.	.	0.176266,4.949	.	AC=2;AN=2;DP4=0,0,0,2;DP=5;IDV=3;IMF=0.6;MQ0F=0;MQ=53;SF=20;SGB=-0.453602;VDB=0.36	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:2:2:78,6,0	.	.	.	.	CTCTTC	CTC	1	0	Retinitis pigmentosa 3, 300029 (3); Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3); Cone-rod dystrophy, X-linked, 1, 304020 (3)	.	.	.	24043777|23150612|20631154|19955120|19815619|17480003|17405150|17325176|17320077|17195164|16969763|16565408|16387007|16055928|16043481|15914600|15772089|15671266|14691151|14627685|14564670|12920075|12766038|12657579|12160730|12140192|11992260|11978759|11968081|11950860|11875055|11857109|11754050|11702207|10970770|10958648|10958647|10932196|10725384|10699176|10482958|10401007|10094550|9855162|9488274|9399904|9350809|9326322|8817343|8673101|7611300|1733835	ESTABLISHMENT_OF_PROTEIN_LOCALIZATION;ESTABLISHMENT_OF_LOCALIZATION;INTRACELLULAR_TRANSPORT;INTRACELLULAR_PROTEIN_TRANSPORT;ESTABLISHMENT_OF_CELLULAR_LOCALIZATION;SENSORY_PERCEPTION;MACROMOLECULE_LOCALIZATION;NEUROLOGICAL_SYSTEM_PROCESS;TRANSPORT;CELLULAR_LOCALIZATION;PROTEIN_TRANSPORT;PROTEIN_LOCALIZATION;SYSTEM_PROCESS	CYTOPLASMIC_PART;GOLGI_APPARATUS;CYTOPLASM	.	.	.	.	.	PM4
L	X	51239293	.	TCATCCTCGAGGCAG	T	218	PASS	NUDT11	nudix (nucleoside diphosphate linked moiety X)-type motif 11	exonic	NM_018159	.	frameshift deletion	NUDT11:NM_018159:wholegene	ENST00000375992.3	CpG: 147	Xp11.22	.	.	.	Score=0.933477;Name=chrX:51074645	.	.	.	.	.	.	.	.	.	.	0.00568182	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=3;AN=6;DP4=37,29,154,154;DP=403;HOB=0.5;ICB=1;IDV=3;IMF=0.0225564;MQ0F=0;MQ=51;MQSB=0.836839;SF=2,3,20;SGB=-0.693147;VDB=0.00059846	GT:DP:DV:PL	.	.	0/1:128:107:255,0,27	0/1:131:109:255,0,28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0/1:115:92:255,0,78	.	.	.	.	TCATCCTCGAGGCAGCCTCCTCGAGGCAGC	TCCTCCTCGAGGCAGC	0	3	Nucleoside diphosphate-linked moiety X motif 11	.	.	.	12121577|12105228	.	.	HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES;PYROPHOSPHATASE_ACTIVITY	.	.	.	.	PM2
L	X	66765158	rs772149730	TGCAGCA	T	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.171_176del:p.57_59del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=664;Name="5106743:(CAG)n(Simple_repeat)"	rs772149730	.	.	.	.	.	0.0361	0.0073	0.0016	.	0.0608696	.	.	.	.	.	.	.	.	.	.	0.026820,4.153	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
H	X	66765158	.	T	TGCAGCA	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift insertion	AR:NM_000044:exon1:c.170_171insGCAGCA:p.L57delinsLQQ	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126087	.	.	.	.	.	.	.	.	.	.	0.027309,4.156	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PM4
H	X	66765158	.	T	TGCAGCAGCAGCAGCAGCA	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift insertion	AR:NM_000044:exon1:c.170_171insGCAGCAGCAGCAGCAGCA:p.L57delinsLQQQQQQ	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PM4
H	X	66765158	rs4045402	T	TGCAGCAGCA	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift insertion	AR:NM_000044:exon1:c.170_171insGCAGCAGCA:p.L57delinsLQQQ	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	.	rs4045402	.	.	.	.	.	.	.	.	.	0.0652174	.	.	.	.	.	.	.	.	.	.	0.001319,4.021	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PM4
L	X	66765158	rs781380725	TGCAGCAGCAGCA	T	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.171_182del:p.57_61del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=664;Name="5106743:(CAG)n(Simple_repeat)"	rs781380725	.	.	.	.	.	.	0.0085	0.0012	.	0.0304348	.	.	.	.	.	.	.	.	.	.	0.002667,4.028	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
L	X	66765158	.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	T	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.171_200del:p.57_67del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=664;Name="5106743:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PM2
L	X	66765158	.	TGCAGCAGCAGCAGCAGCAGCA	T	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.171_191del:p.57_64del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=664;Name="5106743:(CAG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0130435	.	.	.	.	.	.	.	.	.	.	0.053084,4.290	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
L	X	66765158	rs778920072	TGCA	T	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.171_173del:p.57_58del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=664;Name="5106743:(CAG)n(Simple_repeat)"	rs778920072	.	.	.	.	.	.	0.0031	0.0014	.	0.1	.	.	.	.	.	.	.	.	.	.	0.026646,4.152	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
H	X	66765158	.	T	TGCAGCAGCAGCAGCA	176.04	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift insertion	AR:NM_000044:exon1:c.170_171insGCAGCAGCAGCAGCA:p.L57delinsLQQQQQ	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0391304	.	.	.	.	.	.	.	.	.	.	.	.	AC=4,8,1,9,4,1,2,3,2,2;AN=36;DP4=0,0,59,52;DP=346;IDV=3;IMF=0.25;MQ0F=0;MQ=60;MQSB=1;SF=0,2,3,5,7,8,9,10,11,12,14,16,18,19,20,22,23,24;SGB=-0.590765;VDB=0.0357957	GT:DP:DV:PL	2/2:5:5:217,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	9/9:2:2:66,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,12,.,.,.,.,.,.,.,.,9,.,.,.,.,.,.,.,.,.,.,.	1/1:10:10:177,42,21,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/3:9:9:255,.,.,129,.,117,196,.,0,187,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	5/5:8:8:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,24,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:6:6:255,.,.,.,.,.,.,.,.,.,18,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	6/4:10:10:255,.,.,.,.,.,.,.,.,.,255,.,.,.,249,.,.,.,.,.,.,144,.,.,.,0,.,126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:5:5:237,.,.,.,.,.,.,.,.,.,15,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	5/5:1:1:60,.,.,.,.,.,.,.,.,.,.,.,.,.,.,3,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	1/1:6:6:255,18,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	2/2:5:5:255,.,.,15,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	7/7:3:3:143,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,34,.,.,.,.,.,.,28,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	4/4:2:2:110,.,.,.,.,.,.,.,.,.,6,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	2/2:9:9:255,.,.,27,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	10/10:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,.,.,0	.	8/2:9:9:255,.,.,255,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,97,.,0,.,.,.,.,.,76,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	4/4:7:7:255,.,.,.,.,.,.,.,.,.,21,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	8/8:7:7:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,21,.,.,.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	15	3	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	PM4
L	X	66766356	.	T	TGGCGGC	179.34	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift insertion	AR:NM_000044:exon1:c.1368_1369insGGCGGC:p.G456delinsGGG	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=492;Name="5106744:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	AC=3,1,3,5,2;AN=18;DP4=51,2,91,9;DP=267;HOB=0.5;ICB=1;IDV=12;IMF=0.571429;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,7,8,10,20,22,24;SGB=-0.680642;VDB=0.00589533	GT:DP:DV:PL	3/3:12:12:255,.,.,.,.,.,36,.,.,0,.,.,.,.,.,.,.,.,.,.,.	5/5:21:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,63,.,.,.,.,0	0/2:21:9:254,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	0/4:28:4:74,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	0/4:19:8:185,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	4/4:10:10:255,.,.,.,.,.,.,.,.,.,57,.,.,.,30,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	3/4:20:20:255,.,.,.,.,.,201,.,.,162,255,.,.,0,255,.,.,.,.,.,.	.	0/1:12:6:162,0,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	4	5	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
L	X	66766356	rs746853821	TGGCGGCGGCGGC	T	179.34	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1380del:p.457_460del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=492;Name="5106744:(CGG)n(Simple_repeat)"	rs746853821	.	.	.	.	.	.	0.0149	0.0081	.	0.0913043	.	.	.	.	.	.	.	.	.	.	0.832629,8.359	.	AC=3,1,3,5,2;AN=18;DP4=51,2,91,9;DP=267;HOB=0.5;ICB=1;IDV=12;IMF=0.571429;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,7,8,10,20,22,24;SGB=-0.680642;VDB=0.00589533	GT:DP:DV:PL	3/3:12:12:255,.,.,.,.,.,36,.,.,0,.,.,.,.,.,.,.,.,.,.,.	5/5:21:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,63,.,.,.,.,0	0/2:21:9:254,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	0/4:28:4:74,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	0/4:19:8:185,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	4/4:10:10:255,.,.,.,.,.,.,.,.,.,57,.,.,.,30,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	3/4:20:20:255,.,.,.,.,.,201,.,.,162,255,.,.,0,255,.,.,.,.,.,.	.	0/1:12:6:162,0,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	4	5	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
L	X	66766356	.	TGGC	T	179.34	PASS	AR	androgen receptor	exonic	NM_000044	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1371del:p.457_457del	ENST00000504326.1,ENST00000396044.3,ENST00000374690.3,ENST00000513847.1	.	Xq12	.	.	.	.	Score=492;Name="5106744:(CGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.0217391	.	.	.	.	.	.	.	.	.	.	-1.070915,0.172	.	AC=3,1,3,5,2;AN=18;DP4=51,2,91,9;DP=267;HOB=0.5;ICB=1;IDV=12;IMF=0.571429;MQ0F=0;MQ=60;MQSB=1;SF=0,1,2,7,8,10,20,22,24;SGB=-0.680642;VDB=0.00589533	GT:DP:DV:PL	3/3:12:12:255,.,.,.,.,.,36,.,.,0,.,.,.,.,.,.,.,.,.,.,.	5/5:21:21:255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,63,.,.,.,.,0	0/2:21:9:254,.,.,0,.,255,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	.	.	.	0/4:28:4:74,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	0/4:19:8:185,.,.,.,.,.,.,.,.,.,0,.,.,.,255,.,.,.,.,.,.	.	4/4:10:10:255,.,.,.,.,.,.,.,.,.,57,.,.,.,30,.,.,.,.,.,.	.	.	.	.	.	.	.	.	.	3/4:20:20:255,.,.,.,.,.,201,.,.,162,255,.,.,0,255,.,.,.,.,.,.	.	0/1:12:6:162,0,154,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	.	1/1:10:10:255,30,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	4	5	Androgen insensitivity, 300068 (3); Spinal and bulbar muscular atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to}, 176807 (3); Hypospadias 1, X-linked, 300633 (3)	.	.	.	23945587|21390129|20869592|19684044|19279159|18824496|18723679|18303071|18252782|17984063|17684052|17259306|16981011|16804045|16403814|16373508|16137620|16098017|15961403|15956082|15657128|15579779|15522944|15472213|15198988|15146455|15003169|15001585|14576152|14527432|12970260|12908100|12843184|12843171|12838569|12824190|12812978|12810069|12788064|12783846|12727953|12682377|12651870|12593864|12514133|12480537|12466388|12393801|12372281|12372280|12370412|12213902|12189162|12165558|11935317|11931767|11889162|11875046|11809726|11788673|11788641|11751688|11702204|11600555|11579211|11549642|11479228|11436124|11397858|11397856|11397855|11381259|11331614|11317353|11238515|11152658|11145738|11103816|11053270|10999852|10999818|10999816|10958659|10770223|10749991|10590024|10589774|10587588|10543676|10522976|10485299|10466666|10398229|10323385|10323251|10234512|10085091|9851768|9813160|9627582|9580659|9543136|9499423|9384612|9360540|9360511|9354422|9345099|9177411|9106550|9096391|9016528|8990010|8961263|8954049|8824883|8823308|8809734|8768864|8683794|8626869|8594566|8530589|8450042|8450040|8446106|8421085|8325932|8292051|8281139|8240973|8213813|8187068|8182772|8108393|8097257|8096390|8040309|7951325|7937057|7795646|7728763|7723802|7723794|7581399|7537149|7294064|6947233|6541981|6480803|6333813|6332533|6169369|4942673|4831711|4369847|4061484|3866227|3605226|3353727|3353726|3346354|3216866|3186717|3088020|2918059|2911578|2885254|2594783|2563196|2339702|2333898|2332504|2293020|2236003|2062380|2010552|1856263|1779964|1740333|1734252|1720929|1631125|1609793|1589758|1569163|1430233|1347772|1307250|1303262|1303195|599929|182718	ESTABLISHMENT_OF_LOCALIZATION;SIGNAL_TRANSDUCTION;CELL_CELL_SIGNALING;TRANSPORT	CYTOPLASM;NUCLEUS	LIGAND_DEPENDENT_NUCLEAR_RECEPTOR_ACTIVITY;STEROID_HORMONE_RECEPTOR_ACTIVITY;RECEPTOR_ACTIVITY;TRANSCRIPTION_FACTOR_ACTIVITY;DNA_BINDING	KEGG_OOCYTE_MEIOSIS;KEGG_PATHWAYS_IN_CANCER;KEGG_PROSTATE_CANCER	PID_SMAD2_3NUCLEARPATHWAY;PID_AR_PATHWAY;PID_AR_TF_PATHWAY;PID_AR_NONGENOMIC_PATHWAY;PID_BETACATENIN_NUC_PATHWAY;PID_HNF3APATHWAY;PID_HES_HEYPATHWAY	.	REACTOME_GENERIC_TRANSCRIPTION_PATHWAY;REACTOME_NUCLEAR_RECEPTOR_TRANSCRIPTION_PATHWAY	
H	X	69898741	.	TG	T	150	PASS	TEX11	testis expressed 11	splicing	NM_001003811,NM_031276	NM_001003811:exon16:c.1202-3C>-;NM_031276:exon15:c.1157-3C>-	.	.	ENST00000374333.2,ENST00000395889.2,ENST00000344304.3,ENST00000374320.2	.	Xq13.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	AC=2;AN=2;DP4=0,0,8,4;DP=18;IDV=2;IMF=0.111111;MQ0F=0;MQ=60;MQSB=1;SF=20;SGB=-0.680642;VDB=0.201176	GT:DP:DV:PL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1/1:12:12:177,36,0	.	.	.	.	TG	T	1	0	Spermatogenic failure, X-linked, 2, 309120 (3)	.	.	.	25970010|18316482|11279525	.	.	.	.	.	.	.	PM2
L	X	100749016	.	G	GAGGCTC	148.91	PASS	ARMCX4	armadillo repeat containing, X-linked 4	exonic	NM_001256155	.	nonframeshift insertion	ARMCX4:NM_001256155:exon2:c.5440_5441insAGGCTC:p.G1814delinsEAR	ENST00000423738.3	.	Xq22.1	.	.	.	.	Score=948;Name="5160223:(CTGGGG)n(Simple_repeat)"	.	.	.	.	.	.	.	.	.	.	0.00434783	.	.	.	.	.	.	.	.	.	.	-0.278201,2.668	.	AC=9;AN=18;DP4=30,34,58,0;DP=171;HOB=0.5;ICB=1;IDV=9;IMF=0.391304;MQ0F=0;MQ=60;MQSB=1;SF=2,3,5,7,8,9,12,20,22;SGB=-0.676189;VDB=0.926774	GT:DP:DV:PL	.	.	0/1:15:11:255,0,152	0/1:12:7:224,0,198	.	0/1:17:3:104,0,255	.	0/1:17:7:205,0,255	0/1:6:3:124,0,115	0/1:15:7:212,0,255	.	.	0/1:11:8:205,0,60	.	.	.	.	.	.	.	0/1:17:10:239,0,237	.	0/1:12:2:75,0,255	.	.	G	GAGGCTC	0	9	.	.	.	.		.	.	.	.	.	.	.	
L	X	152719969	rs371637396	GGGGA	G	143	PASS	HAUS7	HAUS augmin-like complex, subunit 7	splicing	NM_017518	.	.	.	ENST00000370212.3,ENST00000338525.2,ENST00000334497.2,ENST00000421080.2,ENST00000330912.2,ENST00000370232.1,ENST00000484394.1,ENST00000370211.4	.	Xq28	.	.	.	.	Score=336;Name="5250345:(GGGA)n(Simple_repeat)"	rs371637396	.	.	.	.	.	.	0.0113	0.0403	.	0.773913	.	.	.	.	.	.	.	.	.	.	0.316771,5.717	.	AC=16;AN=16;DP4=0,0,33,0;DP=77;IDV=3;IMF=0.272727;MQ0F=0;MQ=60;SF=3,5,7,9,12,16,20,22;SGB=-0.556411;VDB=0.202231	GT:DP:DV:PL	.	.	.	1/1:4:4:169,12,0	.	1/1:9:9:255,27,0	.	1/1:3:3:151,9,0	.	1/1:3:3:151,9,0	.	.	1/1:3:3:151,9,0	.	.	.	1/1:3:3:151,9,0	.	.	.	1/1:6:6:224,18,0	.	1/1:2:2:110,6,0	.	.	GGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	GGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG	8	0	HAUS augmin-like complex, subunit 7	.	.	.	19427217|19369198|18443220|11163772	.	.	ENZYME_BINDING	.	.	.	.