Chr	Pos.GRCh37	Pos.GRCh38	Ref.GRCh37	Alt.GRCh37	Ref.GRCh38	GeneSymbol	Class	Functional Consequences	AAS	Freq 1KG	Freq ESP6500	RegulomeDBAnno	RegulomeDBScore	GERP	GAD	OMIM
chr2	172180771	171324261	A	G	G	METTL8	B	stop_lost	*/R	0.00137363	0.997591	Motifs|PWM|Sox7, Motifs|PWM|Sox30, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Cll	5	5.63	NA	NA
chr7	75621827	75992509	A	G	G	TMEM120A	A	stop_lost	*/Q	0	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Cll	5	4.88	NA	NA
chr9	139937799	137043347	G	A	G	NPDC1	C	stop_gained	R/*	0.00412088	NA	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hmec, Protein_Binding|ChIP-seq|ELF1	4	0.961	NA	NA
chr10	1142208	1096268	T	C	T	WDR37	B	stop_lost	*/R	0.00503663	0.991235	Motifs|PWM|HSF2, Motifs|PWM|HSF2, Motifs|PWM|HSF1, Motifs|PWM|HSF1	6	-1.13	NA	NA
chr11	65713207	65945736	T	C	C	TSGA10IP	B	stop_lost	*/R	0.000457875	0.999283	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|FAIRE|H1hesc, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|8988t, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|NANOG, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1	4	3.28	NA	NA
chr11	118529017	118658307	T	G	G	TREH	A	stop_lost	*/S	0	NA	Motifs|PWM|Ascl2, Motifs|PWM|Zfp410, Chromatin_Structure|DNase-seq|Osteobl	5	2.25	NA	Autosomal recessive inheritance|Diarrhea
chr1	877831	942451	T	C	T	SAMD11	B	missense_variant	W/R	0.003663	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891	5	2.51	NA	NA
chr1	3807593	3891029	G	C	G	C1orf174	B	missense_variant	T/R	0.00274725	0.994075	Chromatin_Structure|DNase-seq|Werirb1	5	4.36	NA	NA
chr1	11884555	11824498	A	G	A	CLCN6	B	missense_variant	E/G	0.000457875	0.999154	Chromatin_Structure|DNase-seq|Phte	5	5.79	CARDIOVASCULAR	NA
chr1	12175729	12115672	C	T	T	TNFRSF8	A	missense_variant	R/C	0	NA	NA	NA	3.83	NA	NA
chr1	15812432	15485937	A	G	A	CELA2B	C	missense_variant	Q/R	0.00595238	0.992849	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Nhbe, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2	5	-2.83	NA	NA
chr1	17248532	16922037	A	G	G	CROCC	A	missense_variant	R/G	0	NA	Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm18507, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|ZNF263	4	0.306	NA	NA
chr1	17991052	17664557	T	C	C	ARHGEF10L	A	missense_variant	W/R	0	0.999769	Motifs|Footprinting|HEN1, Motifs|Footprinting|HEN1, Motifs|Footprinting|HEN1, Motifs|Footprinting|HEN1, Motifs|PWM|HEN1, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|CTCF	2b	3.15	CANCER	NA
chr1	22846709	22520216	G	A	G	ZBTB40	B	missense_variant	V/M	0.00320513	0.996079	Motifs|PWM|N-Myc, Motifs|PWM|Myc, Motifs|PWM|USF	6	5.79	METABOLIC|METABOLIC|METABOLIC|METABOLIC	NA
chr1	27875824	27549313	C	T	C	AHDC1	B	missense_variant	A/T	0.00320513	0.994925	Protein_Binding|ChIP-seq|MAFF	5	-2.09	NA	NA
chr1	33065947	32600346	G	C	C	ZBTB8OS	A	missense_variant	H/Q	0	0.999923	Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Nha	5	5.59	NA	NA
chr1	33957152	33491552	T	G	T	ZSCAN20	B	missense_variant	Y/D	0.00137363	0.997704	NA	NA	5.61	NA	NA
chr1	40098328	39632656	T	C	T	HEYL	B	missense_variant	H/R	0.00549451	0.992542	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Helas3, Protein_Binding|ChIP-seq|CREBBP	4	4.16	NA	NA
chr1	40533266	40067594	T	G	T	CAP1	A	missense_variant	C/G	0	NA	Chromatin_Structure|DNase-seq|Werirb1, Protein_Binding|ChIP-seq|BCL3	4	4.56	NA	NA
chr1	40533287	40067615	T	G	T	CAP1	B	missense_variant	C/G	0.000457875	NA	Chromatin_Structure|DNase-seq|Werirb1, Protein_Binding|ChIP-seq|BCL3	4	4.88	NA	NA
chr1	40533315	40067643	T	G	T	CAP1	A	missense_variant	I/S	0	NA	Chromatin_Structure|DNase-seq|Werirb1, Protein_Binding|ChIP-seq|BCL3	4	4.88	NA	NA
chr1	40533320	40067648	T	G	T	CAP1	B	missense_variant	C/G	0.000915751	NA	Chromatin_Structure|DNase-seq|Werirb1, Protein_Binding|ChIP-seq|BCL3	4	2.96	NA	NA
chr1	40533326	40067654	T	G	T	CAP1	B	missense_variant	Y/D	0.000915751	NA	Chromatin_Structure|DNase-seq|Werirb1, Protein_Binding|ChIP-seq|BCL3	4	4.88	NA	NA
chr1	40533347	40067675	T	G	T	CAP1	A	missense_variant	S/A	0	NA	Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|FAIRE|UrotsaUt189, Protein_Binding|ChIP-seq|BCL3	4	4.88	NA	NA
chr1	41978566	41512895	T	G	T	HIVEP3	B	missense_variant	D/A	0.003663	0.995403	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST	4	2.66	HEMATOLOGICAL|HEMATOLOGICAL|HEMATOLOGICAL	NA
chr1	41978825	41513154	C	G	C	HIVEP3	B	missense_variant	A/P	0.003663	0.994772	Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPAR=HNF-4=COUP=RAR, Motifs|Footprinting|PPARdirectrepeat1, Motifs|Footprinting|VDR=CAR=PXR, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPAR=HNF-4=COUP=RAR, Motifs|Footprinting|PPARdirectrepeat1, Motifs|Footprinting|VDR=CAR=PXR, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|PWM|VDR=CAR=PXR, Motifs|PWM|PPARgamma:RXRalpha, Motifs|PWM|PPARG::RXRA, Motifs|PWM|PPAR=HNF-4=COUP=RAR, Motifs|PWM|PPARdirectrepeat1, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19238	5	2.9	HEMATOLOGICAL|HEMATOLOGICAL|HEMATOLOGICAL	NA
chr1	42048745	41583074	T	C	T	HIVEP3	B	missense_variant	H/R	0.00778388	0.988851	Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Protein_Binding|ChIP-seq|USF1	4	2.77	NA	NA
chr1	47059934	46594262	T	C	C	MKNK1	C	missense_variant	Q/R	0.00503663	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Medullo	5	-4.18	NA	NA
chr1	47904909	47439237	G	C	G	FOXD2	B	missense_variant	A/P	0.00137363	NA	Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Progfib, Protein_Binding|ChIP-seq|CREBBP	4	3.48	NA	NA
chr1	48697733	48232061	T	G	T	SLC5A9	B	missense_variant	I/M	0.000457875	0.999077	Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|FAIRE|Urotsa, Protein_Binding|ChIP-seq|BCL3, Protein_Binding|ChIP-seq|PBX3	5	4.05	NA	NA
chr1	55277599	54811926	T	C	C	C1orf177	A	missense_variant	Y/H	0	0.999923	Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|PWM|GATA-1, Motifs|Footprinting|, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Protein_Binding|ChIP-seq|IKZF1	2b	1.29	NA	NA
chr1	62330080	61864408	T	G	T	INADL	C	missense_variant	I/M	0.00732601	0.987467	NA	NA	4.57	NA	NA
chr1	65113568	64647885	T	C	T	CACHD1	B	missense_variant	M/T	0.00137363	0.996617	NA	NA	2.3	NA	NA
chr1	85624549	85158866	C	T	C	SYDE2	B	missense_variant	V/I	0.000457875	0.998908	NA	NA	2.56	NA	NA
chr1	90178743	89713184	A	G	A	LRRC8C	B	missense_variant	D/G	0.00778388	0.984161	NA	NA	4.84	NA	NA
chr1	91859795	91394238	T	C	T	HFM1	B	missense_variant	I/V	0.00228938	0.999077	Motifs|PWM|TCF11:MafG	6	1.52	NA	NA
chr1	92647532	92181975	C	A	C	KIAA1107	B	missense_variant	T/N	0.00641026	0.98664	Motifs|PWM|Mafb	6	3.82	NA	NA
chr1	93580581	93115024	G	C	C	MTF2	B	missense_variant	C/S	0.000457875	0.998693	NA	NA	5.23	NA	NA
chr1	109704618	109161996	A	G	A	KIAA1324	B	missense_variant	I/V	0.00137363	0.995464	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Protein_Binding|ChIP-seq|PBX3, Protein_Binding|ChIP-seq|CREBBP	4	5.55	NA	NA
chr1	110466709	109924087	T	C	T	CSF1	B	missense_variant	F/S	0.00228938	0.996848	NA	NA	4.57	NA	NA
chr1	114424601	113881979	C	T	C	BCL2L15	B	missense_variant	D/N	0.00137363	0.999846	NA	NA	-0.702	NA	NA
chr1	151820298	151847822	G	C	G	THEM5	B	missense_variant	L/V	0.0018315	0.99531	Motifs|Footprinting|C/EBPdelta, Motifs|Footprinting|C/EBPdelta, Motifs|PWM|C/EBPdelta, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huvec	5	3.13	NA	NA
chr1	152085505	152113029	A	C	A	TCHH	C	missense_variant	L/R	0.00778388	0.990155	Chromatin_Structure|DNase-seq|T47d	5	4.58	DEVELOPMENTAL	NA
chr1	154574820	154602344	T	C	T	ADAR	B	missense_variant	R/G	0.00228938	0.995694	Protein_Binding|ChIP-seq|MEIS1	5	-2.82	NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL	Infantile onset|Autosomal dominant inheritance|Hyperpigmented/hypopigmented macules
chr1	158619728	158649938	A	C	A	SPTA1	C	missense_variant	S/A	0.00320513	0.993966	NA	NA	-1.91	HEMATOLOGICAL	Heterogeneous|Autosomal dominant inheritance|Autosomal recessive inheritance|Microspherocytosis|Spherocytosis|Elliptocytosis|Pyropoikilocytosis|Hemolytic anemia
chr1	159409734	159439944	G	T	G	OR10J1	C	missense_variant	M/I	0.00869963	0.989236	NA	NA	-5.45	OTHER|HEMATOLOGICAL|CARDIOVASCULAR	NA
chr1	160585554	160615764	C	G	C	SLAMF1	B	missense_variant	S/T	0.00778388	NA	Motifs|PWM|T3R, Motifs|Footprinting|T3R, Motifs|Footprinting|T3R, Motifs|Footprinting|T3R	6	0.0926	NA	NA
chr1	161190276	161220486	C	G	C	FCER1G	C	missense_variant	P/A	0.003663	NA	Chromatin_Structure|DNase-seq|Hepg2	5	0.637	CANCER	NA
chr1	169519049	169549811	T	C	C	F5	C	missense_variant	Q/R	0.00595238	0.978625	Motifs|PWM|Gm397, Protein_Binding|ChIP-seq|RFX3	5	5.71	CARDIOVASCULAR|CARDIOVASCULAR|CARDIOVASCULAR|REPRODUCTION|CARDIOVASCULAR|CARDIOVASCULAR|CARDIOVASCULAR|CARDIOVASCULAR|REPRODUCTION|METABOLIC|HEMATOLOGICAL|CARDIOVASCULAR|CARDIOVASCULAR|HEMATOLOGICAL|CARDIOVASCULAR|CARDIOVASCULAR|CARDIOVASCULAR|OTHER|OTHER|OTHER|OTHER|HEMATOLOGICAL|CARDIOVASCULAR|OTHER|OTHER|CARDIOVASCULAR|CARDIOVASCULAR|REPRODUCTION|CARDIOVASCULAR|CARDIOVASCULAR|HEMATOLOGICAL|HEMATOLOGICAL|UNKNOWN|HEMATOLOGICAL|CARDIOVASCULAR|REPRODUCTION	Prolonged partial thromboplastin time|Autosomal dominant inheritance|Autosomal recessive inheritance|Bruising susceptibility|Reduced factor V activity|Prolonged bleeding time|Resistance to activated protein C|Menorrhagia|Deep venous thrombosis|Prolonged whole-blood clotting time|Adult onset|Epistaxis|Abnormal bleeding|Preeclampsia
chr1	180885430	180916294	T	C	T	KIAA1614	B	missense_variant	L/P	0.00320513	0.996008	Chromatin_Structure|DNase-seq|Medullo	5	-8.68	NA	NA
chr1	180913597	180944461	A	G	A	KIAA1614	B	missense_variant	N/D	0.00412088	0.996248	Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Th2, Chromatin_Structure|FAIRE|K562, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21	4	4.94	NA	NA
chr1	182778367	182809232	G	A	G	NPL	B	missense_variant	R/Q	0.00549451	NA	NA	NA	0.614	NA	NA
chr1	186277088	186307956	G	C	C	PRG4	A	missense_variant	C/S	0	0.999923	Motifs|PWM|Oct-1, Motifs|PWM|Octamer, Motifs|PWM|Pou3f3, Protein_Binding|ChIP-seq|RFX3	5	-1.22	NA	Generalized morning stiffness|Flattened metacarpal heads|Wrist flexion contracture|Congenital finger flexion contractures|Arthritis|Coxa vara|Flattened metatarsal heads|Autosomal recessive inheritance|Constrictive pericarditis|Arthropathy|Synovial hypertrophy
chr1	196874356	196905226	G	T	G	CFHR4	B	missense_variant	E/D	0.00595238	NA	NA	NA	2.28	NA	NA
chr1	197070901	197101771	A	G	A	ASPM	B	missense_variant	Y/H	0.00274725	0.995693	Motifs|PWM|Sox11, Motifs|PWM|Sry, Motifs|PWM|Tcf3, Protein_Binding|ChIP-seq|FOXA1	5	4.83	NA	Small cerebral cortex|Sloping forehead|Delayed speech and language development|Seizures|Intellectual disability|Cortical dysplasia|Autosomal recessive inheritance|Attention deficit hyperactivity disorder|Short stature|Motor delay|Cortical gyral simplification|Microcephaly|Ventriculomegaly|Hearing impairment|Agenesis of corpus callosum|Congenital onset
chr1	201181223	201212095	A	G	A	IGFN1	B	missense_variant	N/S	0.00228938	0.994744	Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Medullo	5	0.908	NA	NA
chr1	203008174	203039046	G	C	G	PPFIA4	B	missense_variant	R/P	0.000457875	NA	Motifs|Footprinting|, Motifs|Footprinting|, Chromatin_Structure|DNase-seq|Gm12864	5	5.32	NA	NA
chr1	207195779	207022434	A	G	A	C1orf116	B	missense_variant	S/P	0.00503663	0.988698	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hepg2, Protein_Binding|ChIP-seq|TFAP2A, Protein_Binding|ChIP-seq|TFAP2C	4	-0.771	NA	NA
chr1	207782916	207609571	A	T	A	CR1	B	missense_variant	T/S	0.00778388	0.981543	NA	NA	2.54	HEMATOLOGICAL|RENAL|CARDIOVASCULAR|INFECTION|IMMUNE|CARDIOVASCULAR|INFECTION|NEUROLOGICAL	NA
chr1	212274413	212101071	A	C	A	DTL	B	missense_variant	K/T	0.00503663	0.99062	NA	NA	2.71	NA	NA
chr1	222802006	222628664	A	G	A	MIA3	B	missense_variant	K/E	0.00320513	0.992691	Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi1	6	1.63	CARDIOVASCULAR|CARDIOVASCULAR	NA
chr1	223283910	223110568	A	G	G	TLR5	A	missense_variant	F/L	0	NA	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|H7es	5	2.58	IMMUNE|IMMUNE|INFECTION	NA
chr1	223900408	223712706	C	G	C	CAPN2	C	missense_variant	D/E	0.00961538	0.98444	Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Sknshra, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|IKZF1	4	2.09	NA	NA
chr1	227923081	227735380	G	A	G	JMJD4	B	missense_variant	A/V	0.00228938	0.999917	Motifs|PWM|Smad3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Sknmc, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Th2, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Monocd14, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Caco2, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|BCLAF1, Protein_Binding|ChIP-seq|RXRA, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|SIX5, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TRIM28, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|TFAP2A, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|TCF4, Protein_Binding|ChIP-seq|ELK4, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|NR2C2, Protein_Binding|ChIP-seq|MXI1, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|JUN, Protein_Binding|ChIP-seq|NRF1, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|GATA2, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|RFX5, Protein_Binding|ChIP-seq|WRNIP1, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|BRCA1, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|ZZZ3, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|SIX5, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|ELK4, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|SP2, Protein_Binding|ChIP-seq|ZBTB33, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|MEF2C, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|ZNF143, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|TFAP2C, Protein_Binding|ChIP-seq|ZEB1, Protein_Binding|ChIP-seq|NRF1, Protein_Binding|ChIP-seq|BCLAF1, Protein_Binding|ChIP-seq|RFX5, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|RFX5, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|ZBTB33, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|NRF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NRF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	3a	1.99	NA	NA
chr1	228444565	228256864	T	A	T	OBSCN	A	missense_variant	V/D	0	NA	Chromatin_Structure|DNase-seq|Caco2	5	4.6	NA	NA
chr1	245133539	244970237	A	G	A	RP11-156E8.1	B	missense_variant	F/L	0.00503663	NA	Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|PWM|E2F, Motifs|PWM|E2F, Motifs|PWM|E2F, Motifs|PWM|E2F-1, Motifs|PWM|E2F-1, Motifs|PWM|E2F-4:DP-1, Motifs|PWM|E2F-1, Motifs|PWM|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Motifs|Footprinting|E2F-1, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Sknshra, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|GATA1	2a	-0.521	NA	NA
chr1	247695612	247532310	G	A	G	OR2C3	B	missense_variant	P/S	0.00228938	0.998078	Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|H1hesc, Protein_Binding|ChIP-seq|CTCF	4	4.04	CANCER	NA
chr1	247978319	247815017	A	G	A	OR14A16	B	missense_variant	I/T	0.0018315	0.99877	NA	NA	3.84	NA	NA
chr2	21235475	21012603	T	C	C	APOB	A	missense_variant	Y/C	0	0.999692	Protein_Binding|ChIP-seq|POLR2A	5	1.93	RENAL|RENAL|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|METABOLIC|METABOLIC|OTHER|METABOLIC|METABOLIC|CARDIOVASCULAR|OTHER|METABOLIC|METABOLIC|CARDIOVASCULAR|OTHER|OTHER|OTHER|OTHER|METABOLIC|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|METABOLIC|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|METABOLIC|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|CARDIOVASCULAR|OTHER|CARDIOVASCULAR|AGING|CARDIOVASCULAR|CARDIOVASCULAR	Acanthocytosis|Retinitis pigmentosa|Ataxia|Fat malabsorption|Autosomal dominant inheritance|Corneal arcus|Xanthelasma|Coronary artery disease|Reduced tendon reflexes|Hypobetalipoproteinemia|Hypercholesterolemia
chr2	24108652	23885782	T	C	C	ATAD2B	A	missense_variant	Q/R	0	0.999501	NA	NA	4.94	NA	NA
chr2	26203678	25980809	T	C	C	KIF3C	A	missense_variant	Q/R	0	0.999846	NA	NA	5.32	NA	NA
chr2	26667615	26444747	T	C	T	DRC1	B	missense_variant	W/R	0.000457875	0.998001	Motifs|Footprinting|Lyf-1, Motifs|Footprinting|Lyf-1, Motifs|PWM|Lyf-1, Chromatin_Structure|DNase-seq|Fibrobl	5	5.51	NA	Autosomal recessive inheritance|Sinusitis|Recurrent otitis media|Atelectasis|Bronchiectasis
chr2	29416572	29193706	T	C	T	ALK	B	missense_variant	I/V	0.00686813	0.990312	Motifs|PWM|NFE2L2	6	-0.134	PSYCH	NA
chr2	32667182	32442114	G	C	C	BIRC6	A	missense_variant	V/L	0	NA	Chromatin_Structure|DNase-seq|Rptec, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|HEY1	4	5.64	NA	NA
chr2	33585796	33360729	T	C	T	LTBP1	A	missense_variant	V/A	0	0.999923	Motifs|PWM|Tal1::Gata1, Chromatin_Structure|FAIRE|K562, Protein_Binding|ChIP-seq|USF1	5	4.89	DEVELOPMENTAL|DEVELOPMENTAL	NA
chr2	38179134	37951991	G	A	A	RMDN2	A	missense_variant	G/D	0	NA	NA	NA	-3.03	NA	NA
chr2	42510018	42282878	A	G	A	EML4	B	missense_variant	K/E	0.00732601	0.987621	NA	NA	5.89	HEMATOLOGICAL|IMMUNE	NA
chr2	69741854	69514722	T	G	T	AAK1	A	missense_variant	K/Q	0	NA	Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Aosmc, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	4	4.52	NEUROLOGICAL	NA
chr2	100343557	99727095	C	T	T	AFF3	A	missense_variant	S/N	0	NA	Motifs|PWM|Ets, Motifs|Footprinting|Ets, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Htr8	5	5.26	IMMUNE	NA
chr2	109099572	108483116	C	G	C	GCC2	B	missense_variant	Q/E	0.00228938	0.990005	Motifs|PWM|Zec	6	5.13	NA	NA
chr2	131520663	130763090	T	C	T	AMER3	C	missense_variant	S/P	0.00915751	0.977011	Motifs|PWM|Hoxa3, Chromatin_Structure|DNase-seq|Hmec	5	0.659	NA	NA
chr2	160136337	159279826	G	A	A	WDSUB1	A	missense_variant	P/L	0	0.999923	NA	NA	5.79	NA	NA
chr2	178936614	178071887	C	T	C	PDE11A	C	missense_variant	R/Q	0.00915751	0.992619	NA	NA	5.28	PHARMACOGENOMIC|CANCER	Agitation|Pigmented micronodular adrenocortical disease|Kyphosis|Onset|Striae distensae|Hypertension|Primary hypercorticolism|Depression|Autosomal dominant inheritance|Round face|Decreased circulating ACTH level|Bruising susceptibility|Anxiety|Paradoxical increased cortisol secretion on dexamethasone suppression test|Mood changes|Psychosis|Truncal obesity|Mental deterioration|Increased circulating cortisol level|Osteoporosis|Osteopenia|Thin skin
chr2	179444768	178580041	C	G	C	TTN	B	missense_variant	A/P	0.00503663	0.995617	NA	NA	1.82	CARDIOVASCULAR	EMG: myopathic abnormalities|Sudden death|Dilated cardiomyopathy|Autosomal dominant inheritance|Autosomal recessive inheritance|Incomplete penetrance|Facial palsy|Proximal muscle weakness|Childhood onset|Distal muscle weakness|Arrhythmia|Centrally nucleated skeletal muscle fibers|Ptosis|Calf muscle hypertrophy|Myopathy|Slow progression|Diaphragmatic weakness|Generalized muscle weakness|Rimmed vacuoles|Muscular dystrophy|Motor delay|Foot dorsiflexor weakness|Infantile onset|Elevated serum creatine phosphokinase|Adult onset|Steppage gait|Congenital onset|Neck flexor weakness
chr2	179621477	178756750	C	T	T	TTN	B	missense_variant	A/T	0.000457875	0.999169	NA	NA	1.92	CARDIOVASCULAR	EMG: myopathic abnormalities|Sudden death|Dilated cardiomyopathy|Autosomal dominant inheritance|Autosomal recessive inheritance|Incomplete penetrance|Facial palsy|Proximal muscle weakness|Childhood onset|Distal muscle weakness|Arrhythmia|Centrally nucleated skeletal muscle fibers|Ptosis|Calf muscle hypertrophy|Myopathy|Slow progression|Diaphragmatic weakness|Generalized muscle weakness|Rimmed vacuoles|Muscular dystrophy|Motor delay|Foot dorsiflexor weakness|Infantile onset|Elevated serum creatine phosphokinase|Adult onset|Steppage gait|Congenital onset|Neck flexor weakness
chr2	187532417	186667690	G	A	G	ITGAV	B	missense_variant	V/I	0.00503663	0.99085	NA	NA	3.39	IMMUNE	NA
chr2	188250301	187385574	T	A	A	CALCRL	A	missense_variant	N/Y	0	0.998531	NA	NA	-1.99	NA	NA
chr2	189875421	189010695	T	G	T	COL3A1	C	missense_variant	H/Q	0.00320513	0.994925	Motifs|PWM|Sox11, Motifs|PWM|Sox4, Motifs|PWM|Sox4, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Sknmc	5	1.42	CARDIOVASCULAR|OTHER|OTHER|CARDIOVASCULAR	Talipes equinovarus|Joint dislocation|Cerebral aneurysm|Uterine prolapse|Autosomal dominant inheritance|Osteolytic defects of the phalanges of the hand|Mitral valve prolapse|Abnormality of the urinary system|Hypermobility of distal interphalangeal joints|Short stature|Fragile skin|Acroosteolysis (feet)|Keratoconus|Inguinal hernia|Absent earlobe|Molluscoid pseudotumors|Striae distensae|Thin vermilion border|Bruising susceptibility|Periodontitis|Hemoptysis|Soft skin|Alopecia of scalp|Spontaneous pneumothorax|Joint laxity|Premature delivery because of cervical insufficiency or membrane fragility|Hyperextensible skin|Premature loss of teeth|Cigarette-paper scars|Osteoarthritis
chr2	202357949	201493226	A	C	A	ALS2CR11	A	missense_variant	C/G	0	NA	NA	NA	2.1	NA	NA
chr2	209184980	208320256	G	A	G	PIKFYVE	B	missense_variant	S/N	0.00686813	0.992151	NA	NA	5.83	NA	Speckled corneal dystrophy|Autosomal dominant inheritance|Photophobia
chr2	215876166	215011442	A	T	A	ABCA12	B	missense_variant	S/T	0.0018315	0.99777	NA	NA	-2.88	NEUROLOGICAL	Leukonychia|Short finger|Clubbing|Autosomal recessive inheritance|Everted lower lip vermilion|Abnormality of the nervous system|Congenital ichthyosiform erythroderma|Proptosis|Palmoplantar keratoderma|Abnormality of the abdomen|Ectropion|Rigidity|Premature birth
chr2	216235089	215370366	C	T	C	FN1	B	missense_variant	V/I	0.000457875	0.999846	Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hae, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|FOXA2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	5.6	OTHER|RENAL|HEMATOLOGICAL	Generalized distal tubular acidosis|Nephrotic syndrome|Hypertension|Slow progression|Autosomal dominant inheritance|Renal cell carcinoma|End stage renal disease|Microhematuria|Proteinuria
chr2	216272900	215408177	T	G	T	FN1	B	missense_variant	T/P	0.000457875	0.999923	Chromatin_Structure|DNase-seq|Werirb1	5	5.93	OTHER|RENAL|HEMATOLOGICAL	Generalized distal tubular acidosis|Nephrotic syndrome|Hypertension|Slow progression|Autosomal dominant inheritance|Renal cell carcinoma|End stage renal disease|Microhematuria|Proteinuria
chr2	220037393	219172671	A	G	A	CNPPD1	B	missense_variant	L/P	0.00732601	0.995617	Motifs|PWM|RREB1, Motifs|PWM|RREB-1, Motifs|PWM|Foxk1, Motifs|PWM|Foxl1	6	2.79	NA	NA
chr2	220250147	219385425	A	G	G	DNPEP	A	missense_variant,splice_region_variant	V/A	0	0.999919	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12891	5	2.29	NA	NA
chr2	242203916	241264501	A	C	C	HDLBP	A	missense_variant	S/A	0	NA	NA	NA	5.64	NA	NA
chr3	9970031	9928347	A	G	A	IL17RC	B	missense_variant	Q/R	0.00228938	0.995386	NA	NA	1.66	NA	NA
chr3	9976159	9934475	A	G	A	CRELD1	B	missense_variant	M/V	0.00641026	0.991465	Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|FAIRE|K562, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCFL, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A	4	0.328	NA	Atrioventricular canal defect with right ventricle aorta and pulmonary atresia|Right aortic arch with mirror image branching|Pulmonary artery atresia|Autosomal dominant inheritance|Incomplete penetrance|Dextrocardia
chr3	24006477	23964986	T	A	A	NR1D2	A	missense_variant	L/M	0	NA	Protein_Binding|ChIP-seq|USF1	5	5.78	NA	NA
chr3	38739574	38698083	T	C	T	SCN10A	A	missense_variant	M/V	0	NA	NA	NA	5.38	CARDIOVASCULAR	NA
chr3	39229900	39188409	T	C	T	XIRP1	C	missense_variant	Q/R	0.00732601	0.994618	Motifs|Footprinting|AR, Motifs|PWM|AR, Motifs|Footprinting|AR, Motifs|PWM|CTCF, Motifs|PWM|AR, Chromatin_Structure|DNase-seq|Hmec	5	3.06	NA	NA
chr3	49928691	49891258	T	C	C	MST1R	A	missense_variant	S/G	0	NA	Chromatin_Structure|DNase-seq|Hepatocytes	5	5.07	NA	NA
chr3	51978220	51944204	A	G	G	PARP3	B	missense_variant	H/R	0.00457875	0.992043	Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hpdlf	5	3.14	NA	NA
chr3	51990119	51956103	A	C	A	GPR62	B	missense_variant	T/P	0.00274725	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Ag04450, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	4	2.77	NA	NA
chr3	51990315	51956299	A	G	A	GPR62	B	missense_variant	H/R	0.00274725	0.995002	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12892	5	4.59	NA	NA
chr3	52430698	52396682	A	G	G	DNAH1	B	missense_variant	H/R	0.0018315	0.995485	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Ips	5	4.49	NA	NA
chr3	110611137	110892290	G	A	G	RP11-553A10.1	B	missense_variant	S/L	0.00137363	NA	Motifs|PWM|AR	6	-6.69	NA	NA
chr3	112190137	112471290	G	T	G	BTLA	B	missense_variant	R/S	0.00961538	0.99062	NA	NA	-4.86	IMMUNE	NA
chr3	113373930	113655083	A	G	G	KIAA2018	A	missense_variant	V/A	0	0.998206	Protein_Binding|ChIP-seq|ESR1, Protein_Binding|ChIP-seq|ESR1	5	5.57	NA	NA
chr3	121263720	121544873	C	A	C	POLQ	B	missense_variant	R/I	0.00915751	0.988621	Motifs|PWM|HOXA5(Hox-1.3), Motifs|PWM|Pbx, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21	5	-2.11	NA	NA
chr3	121350966	121632119	C	G	C	HCLS1	B	missense_variant	V/L	0.0018315	0.996002	Motifs|PWM|FOXJ2, Motifs|PWM|Dbx1, Motifs|PWM|Hoxd8, Motifs|PWM|Tlx2	6	3.01	NA	NA
chr3	122186188	122467341	C	T	C	KPNA1	B	missense_variant	S/N	0.00549451	0.992771	Motifs|PWM|Hoxc9, Motifs|PWM|Cdx2, Motifs|PWM|Six4, Motifs|PWM|Zbtb7b	6	4.56	NA	NA
chr3	123451773	123732926	G	C	G	MYLK	B	missense_variant	L/V	0.000915751	0.998616	Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Fibrop	5	5.29	INFECTION|IMMUNE|IMMUNE|UNKNOWN|IMMUNE|UNKNOWN	Autosomal dominant inheritance|Aortic dissection|Aortic aneurysm
chr3	124837684	125118840	T	C	T	SLC12A8	B	missense_variant	I/V	0.000457875	0.998799	NA	NA	1.6	NA	NA
chr3	125786879	126068036	T	C	T	SLC41A3	B	missense_variant	T/A	0.00732601	0.990697	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Panislets	5	-4.75	NA	NA
chr3	129281980	129563137	C	T	C	PLXND1	A	missense_variant	S/N	0	0.999846	Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HNF3, Motifs|Footprinting|HNF3, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|PWM|FOXJ2, Motifs|PWM|FOXJ2, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|Freac-7, Motifs|Footprinting|HNF3, Motifs|Footprinting|HNF3, Motifs|Footprinting|HNF3, Motifs|Footprinting|HNF3, Motifs|Footprinting|HNF3, Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|Freac-7, Motifs|Footprinting|HFH8(FOXF1A), Motifs|Footprinting|HNF3, Motifs|Footprinting|Freac-7, Motifs|Footprinting|HNF3, Motifs|PWM|Freac-7, Motifs|PWM|HFH8(FOXF1A), Motifs|PWM|HNF3, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Chorion	5	4.09	NA	NA
chr3	129293183	129574340	T	C	T	PLXND1	B	missense_variant	H/R	0.00732601	0.989824	Motifs|PWM|Pax-5, Motifs|Footprinting|Pax-5, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Chorion	5	3.29	NA	NA
chr3	132360883	132642039	C	T	T	ACAD11	A	missense_variant	R/H	0	NA	Chromatin_Structure|FAIRE|Mcf7, Protein_Binding|ChIP-seq|AR	5	5.49	NA	NA
chr3	133485133	133766289	A	G	A	TF	B	missense_variant	I/V	0.00778388	0.999616	NA	NA	4.87	NEUROLOGICAL|CARDIOVASCULAR|HEMATOLOGICAL|HEMATOLOGICAL|HEMATOLOGICAL|HEMATOLOGICAL	Abnormality of metabolism/homeostasis|Syndactyly|Autosomal dominant inheritance|Autosomal recessive inheritance|Congestive heart failure|Hypochromic anemia|Abnormality of the liver|Abnormality of the face|Atransferrinemia
chr3	140401693	140682851	A	G	A	TRIM42	B	missense_variant	K/R	0.000915751	0.999231	NA	NA	1.87	NA	NA
chr3	175165079	175447291	C	T	C	NAALADL2	A	missense_variant	P/S	0	0.999501	NA	NA	4.53	IMMUNE	NA
chr3	179096508	179378720	C	G	G	MFN1	A	missense_variant	P/R	0	NA	Motifs|PWM|GATA-3	6	-0.792	NA	NA
chr3	184037533	184319745	A	G	A	EIF4G1	B	missense_variant	T/A	0.0018315	0.997309	Motifs|Footprinting|SP1, Motifs|Footprinting|SP1, Motifs|Footprinting|SP1, Motifs|PWM|SP1, Motifs|Footprinting|SP1, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Htr8	5	-1.84	NA	Lewy bodies|Resting tremor|Bradykinesia|Autosomal dominant inheritance|Parkinsonism|Rigidity|Insidious onset
chr4	648643	654854	G	A	G	PDE6B	B	missense_variant	V/I	0.000457875	0.998924	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Progfib	5	4.67	UNKNOWN|UNKNOWN	Retinitis pigmentosa|Abnormality of metabolism/homeostasis|Autosomal dominant inheritance|Autosomal recessive inheritance|Abnormal rod and cone electroretinograms|Congenital stationary night blindness
chr4	1954945	1953218	A	G	A	WHSC1	B	missense_variant	M/V	0.00274725	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|FAIRE|Nhbe	5	-6.77	NA	Delayed skeletal maturation|Intellectual disability, severe|Talipes equinovarus|Autosomal dominant inheritance|Single transverse palmar crease|Stenosis of the external auditory canal|Rieger anomaly|Sensorineural hearing impairment|Epicanthus|Precocious puberty|Conductive hearing impairment|Pseudoepiphyses of the metacarpals|Gastroesophageal reflux|Prominent glabella|Ectopia pupillae|Preauricular skin tag|Cryptorchidism|Immunodeficiency|Aplasia of the uterus|Short thumb|Decreased muscle mass|Convex nasal ridge|Cleft palate|Seizures|Abnormal form of the vertebral bodies|Downturned corners of mouth|Global developmental delay|Vertebral fusion|Aplasia cutis congenita of scalp|Proptosis|Hip dislocation|Hypertelorism|Hypospadias|Radioulnar synostosis|EEG abnormality|Hypodontia|Failure to thrive|Intrauterine growth retardation|Accessory spleen|Ventricular septal defect|Hip dysplasia|Malrotation of small bowel|Wide nasal bridge|Defect in the atrial septum|Short upper lip|Rib fusion|Small for gestational age|Agenesis of corpus callosum|Craniofacial asymmetry|Cleft upper lip|Kyphosis|Abnormality of the nasolacrimal system|Iris coloboma|Short hallux|Preauricular pit|High forehead|Hemangioma|Micrognathia|Short stature|Preaxial foot polydactyly|Metatarsus adductus|Periventricular cysts|Webbed neck|Generalized hypotonia|Cavum septum pellucidum|Rib segmentation abnormalities|Split hand|Ventriculomegaly|Short philtrum|Sporadic|Preaxial hand polydactyly|Nystagmus|Ptosis|Hydrocephalus|Low posterior hairline|Absent septum pellucidum|Scoliosis|Hyperconvex fingernails|Abnormality of the pinna|Abnormal sternal ossification|Genitourinary tract malformation|Microcephaly|Biliary tract abnormality|Stereotypic behavior|Highly arched eyebrow|Tethered cord|Decreased fetal movement|Sacral dimple|Strabismus|Severe postnatal growth retardation
chr4	2461888	2460161	A	G	A	RP11-503N18.3	B	missense_variant	H/R	0.000457875	NA	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Lncap	5	3.75	NA	NA
chr4	4276132	4274405	T	C	C	LYAR	A	missense_variant	H/R	0	0.999462	Motifs|PWM|CLOCK:BMAL, Chromatin_Structure|DNase-seq|Hl60	5	1.24	NA	NA
chr4	8616179	8614452	T	C	T	CPZ	B	missense_variant	I/T	0.0018315	0.994233	Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes	5	3.91	NA	NA
chr4	10446385	10444761	C	T	C	ZNF518B	C	missense_variant	S/N	0.00732601	0.990235	Motifs|PWM|AREB6	6	1.61	NA	NA
chr4	15690233	15688610	C	A	C	FAM200B	B	missense_variant	H/N	0.00549451	NA	NA	NA	2.83	NA	NA
chr4	36081878	36080256	C	T	C	ARAP2	B	missense_variant	R/Q	0.00732601	0.992542	NA	NA	4.53	NA	NA
chr4	54966830	54100663	G	A	G	GSX2	B	missense_variant	G/S	0.00686813	0.994974	Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Caco2, Protein_Binding|ChIP-seq|SUZ12	4	1.42	NA	NA
chr4	69094575	68228857	T	G	T	TMPRSS11B	B	missense_variant	D/A	0.00320513	0.996002	NA	NA	4.62	NA	NA
chr4	70513139	69647421	C	T	T	UGT2A1	A	missense_variant	R/K	0	NA	NA	NA	0.266	NA	NA
chr4	72618296	71752579	T	C	T	GC	B	missense_variant	H/R	0.00595238	0.993003	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Sknmc, Chromatin_Structure|DNase-seq|Lncap	5	0.982	IMMUNE|METABOLIC|OTHER|IMMUNE	NA
chr4	76794345	75873192	T	G	T	PPEF2	B	missense_variant	M/L	0.000457875	0.999	NA	NA	3.63	NA	NA
chr4	81967188	81046034	C	T	C	BMP3	B	missense_variant	L/F	0.000457875	0.998924	NA	NA	-1.34	DEVELOPMENTAL	NA
chr4	95539267	94618116	G	A	G	PDLIM5	B	missense_variant	A/T	0.00274725	0.994541	Motifs|PWM|BRCA1:USF2, Motifs|PWM|Irf6	6	1.63	PSYCH	NA
chr4	100140306	99219149	A	T	T	ADH6	A	missense_variant	C/S	0	0.999692	Chromatin_Structure|FAIRE|Hepg2, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huh75, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|HNF4G, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|TCF4, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|HNF4A	4	0.836	NA	NA
chr4	102965043	102043886	T	C	T	BANK1	B	missense_variant	C/R	0.003663	0.990618	Motifs|PWM|BCL6, Motifs|PWM|Foxl1	6	3.64	IMMUNE|IMMUNE	NA
chr4	103911069	102989912	C	A	C	SLC9B1	B	missense_variant	Q/H	0.00274725	0.995918	NA	NA	0.0199	NA	NA
chr4	115589302	114668146	A	G	A	UGT8	C	missense_variant	I/M	0.00732601	0.984315	NA	NA	1.96	NA	NA
chr4	126373789	125452634	G	A	G	FAT4	B	missense_variant	S/N	0.003663	0.992465	NA	NA	5.27	NEUROLOGICAL	NA
chr4	169336662	168415511	T	C	C	DDX60L	A	missense_variant	Y/C	0	NA	NA	NA	0.475	NA	NA
chr4	187519206	186598052	C	G	C	FAT1	B	missense_variant	K/N	0.00137363	0.995207	Motifs|PWM|MRF-2, Protein_Binding|ChIP-seq|TAL1	5	-0.147	NA	NA
chr5	43509348	43509246	T	A	A	C5orf34	C	missense_variant	T/S	0.00641026	0.994618	NA	NA	5.26	NA	NA
chr5	66480004	67184176	T	C	T	CD180	B	missense_variant	I/V	0.00732601	0.999923	NA	NA	-0.748	NA	NA
chr5	75923307	76627482	A	G	A	IQGAP2	B	missense_variant	K/E	0.000457875	0.999616	NA	NA	-4.28	CHEMDEPENDENCY|OTHER	NA
chr5	94772540	95436836	C	T	T	FAM81B	A	missense_variant	P/S	0	NA	Motifs|PWM|TFE, Motifs|PWM|Sox17, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|FAIRE|Gm18507	5	4.26	NA	NA
chr5	112312676	112976979	T	C	C	DCP2	A	missense_variant	F/S	0	NA	Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Protein_Binding|ChIP-seq|SMARCB1, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|ELF1	4	4.52	NA	NA
chr5	112439941	113104244	T	C	T	MCC	B	missense_variant	K/R	0.00228938	0.993387	Protein_Binding|ChIP-seq|RFX3	5	5.26	NA	NA
chr5	115813726	116478030	A	G	G	SEMA6A	A	missense_variant	Y/H	0	NA	Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	5	5.98	NEUROLOGICAL	NA
chr5	128863471	129527778	A	G	A	ADAMTS19	B	missense_variant	S/G	0.0018315	0.996079	NA	NA	4.41	NA	NA
chr5	131066725	131731032	C	A	C	FNIP1	B	missense_variant	G/C	0.00228938	0.996771	NA	NA	5.16	NA	NA
chr5	132150948	132815256	T	G	G	SOWAHA	A	missense_variant	F/L	0	NA	Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|UrotsaUt189	5	1.48	NA	NA
chr5	138713959	139378270	A	C	C	SLC23A1	A	missense_variant	S/A	0	0.998844	Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Huvec, Protein_Binding|ChIP-seq|POLR2A	4	5.3	NA	NA
chr5	140531175	141151594	T	C	C	PCDHB6	A	missense_variant	V/A	0	NA	NA	NA	3.29	NA	NA
chr5	140750044	141370477	T	C	C	PCDHGB3	A	missense_variant	V/A	0	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Stellate	5	-0.164	NA	NA
chr5	149360877	149981314	T	C	T	SLC26A2	B	missense_variant	I/T	0.00274725	0.993233	NA	NA	4.37	NA	Stillbirth|Kyphoscoliosis|Talipes equinovarus|Hypoplasia of the femoral head|Malar flattening|Autosomal recessive inheritance|Laryngotracheal stenosis|Micromelia|Hypoplastic ilia|Abdominal distention|Irregular epiphyses|Inguinal hernia|Hitchhiker thumb|Coronal cleft vertebrae|Spinal cord compression|Hip contracture|Hydrops fetalis|Platyspondyly|Hoarse voice|Cleft palate|Short finger|Midface retrusion|Arthralgia|Cystic lesions of the pinnae|Cervical kyphosis|Small sacroiliac notches|Narrow chest|Flat acetabular roof|Short ribs|Neonatal short-limb short stature|Hip dysplasia|Flat face|Pulmonary hypoplasia|Horizontal sacrum|Breech presentation|Hypoplastic cervical vertebrae|Respiratory insufficiency|Sandal gap|Depressed nasal bridge|Disproportionate short-limb short stature|Brachydactyly syndrome|Short neck|Absent or minimally ossified vertebral bodies|Short stature|Micrognathia|Limited elbow flexion|Flattened epiphyses|Dumbbell-shaped femur|Costal cartilage calcification|Lumbar hyperlordosis|Flat capital femoral epiphysis|Abnormality of metabolism/homeostasis|Thoracic hypoplasia|Scoliosis|Umbilical hernia|Multiple epiphyseal dysplasia|Edema|Polyhydramnios|Short long bones|Short metacarpal|Hearing impairment|Hypertrophic auricular cartilage|Short middle phalanx of finger|Ulnar deviation of finger|Glabellar hemangioma
chr5	149585025	150205462	A	C	A	SLC6A7	A	missense_variant	M/L	0	NA	Motifs|PWM|SRF, Motifs|PWM|YY1	6	4.77	NA	NA
chr5	150051958	150672396	T	C	T	MYOZ3	C	missense_variant	S/P	0.00503663	0.988698	Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|Footprinting|NF-muE1, Motifs|PWM|NF-muE1, Motifs|Footprinting|NF-muE1, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hsmm, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1	2a	4.91	NA	NA
chr5	150923405	151543844	A	G	A	FAT2	B	missense_variant	F/S	0.00137363	0.996694	Motifs|PWM|ISL1, Motifs|PWM|Arid5a	6	4.7	NA	NA
chr5	150942919	151563358	A	G	A	FAT2	B	missense_variant	Y/H	0.00320513	0.996079	NA	NA	1.9	NA	NA
chr5	151771817	152392256	C	T	C	NMUR2	B	missense_variant	A/T	0.0018315	0.997924	Protein_Binding|ChIP-seq|PAX5	5	1.97	NA	NA
chr5	176025938	176598937	T	C	T	GPRIN1	B	missense_variant	M/V	0.00320513	0.996848	Chromatin_Structure|DNase-seq|Hae	5	-3.95	NA	NA
chr5	176885178	177458177	A	G	A	DBN1	B	missense_variant	S/P	0.00320513	0.998691	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Cll	5	2.85	NA	NA
chr5	177422876	177995875	T	C	T	PROP1	B	missense_variant	N/S	0.00137363	0.999692	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12892	5	1.48	NA	Hypothyroidism|Panhypopituitarism|Autosomal recessive inheritance|Prolactin deficiency|Hypoglycemic seizures|Adrenal insufficiency|Short stature|Neonatal hypoglycemia|Hypogonadism
chr6	12122645	12122412	A	G	G	HIVEP1	A	missense_variant	T/A	0	0.999918	NA	NA	-7.96	NA	NA
chr6	27277402	27309623	C	T	C	POM121L2	B	missense_variant	G/S	0.00869963	0.983574	NA	NA	0.985	NA	NA
chr6	35027927	35060150	T	C	T	ANKS1A	B	missense_variant	L/S	0.00641026	0.987006	Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|CTCF	4	5.68	DEVELOPMENTAL	NA
chr6	42713618	42745880	A	G	A	TBCC	C	missense_variant	V/A	0.00686813	0.990389	Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|Footprinting|SOX4, Motifs|PWM|SOX4, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Mcf7, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|SPDEF	2b	4.1	NA	NA
chr6	42853842	42886104	A	G	A	RPL7L1	B	missense_variant	I/V	0.00228938	0.99654	Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|Gm18507	5	-3.03	NA	NA
chr6	121620608	121299462	G	T	G	TBC1D32	B	missense_variant	T/K	0.00732601	0.989966	Motifs|PWM|Zfp105, Chromatin_Structure|DNase-seq|Hl60, Protein_Binding|ChIP-seq|CEBPB	3a	4.83	NEUROLOGICAL	NA
chr6	132271952	131950812	G	C	G	CTGF	A	missense_variant	H/D	0	NA	Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hipe, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|SIN3A	4	5.28	NA	NA
chr6	133070995	132749856	G	T	G	VNN2	A	missense_variant	L/M	0	0.999462	Motifs|PWM|Tcf7	6	-10.4	NA	NA
chr6	142758631	142437494	A	G	A	GPR126	A	missense_variant	Q/R	0	0.998233	NA	NA	5.29	CARDIOVASCULAR|DEVELOPMENTAL|DEVELOPMENTAL|DEVELOPMENTAL	NA
chr6	152540278	152219143	A	C	A	SYNE1	B	missense_variant	F/V	0.00686813	0.99308	Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Protein_Binding|ChIP-seq|GATA3, Protein_Binding|ChIP-seq|FOXA1	4	3.99	CANCER|OTHER	Childhood onset|Left ventricular septal hypertrophy|Autosomal dominant inheritance|Phenotypic variability|Elevated serum creatine phosphokinase|Neck muscle weakness|Proximal amyotrophy|Proximal muscle weakness
chr6	167571048	167157560	T	C	T	GPR31	C	missense_variant	H/R	0.00915751	0.985222	Motifs|PWM|Elk-1, Motifs|PWM|c-Ets-1, Motifs|PWM|GABP, Motifs|PWM|NERF1a, Motifs|PWM|Ets, Motifs|PWM|GABP, Motifs|PWM|Ehf, Chromatin_Structure|DNase-seq|Hmec	5	-6.81	NA	NA
chr7	4841470	4801839	T	C	T	RADIL	B	missense_variant	S/G	0.003663	0.994708	Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Phte	5	0.203	NA	NA
chr7	5427720	5388089	A	G	A	TNRC18	B	missense_variant	S/P	0.00137363	0.998464	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes	5	3.42	NA	NA
chr7	32209425	32169813	A	G	G	PDE1C	A	missense_variant	S/P	0	NA	NA	NA	5.65	NA	NA
chr7	46732428	46692830	A	G	A	AC011294.3	B	missense_variant	V/A	0.00686813	NA	Motifs|PWM|FOXP1	6	-0.113	NA	NA
chr7	48545976	48506380	A	G	G	ABCA13	A	missense_variant	K/E	0	NA	NA	NA	5.04	NA	NA
chr7	50611735	50544037	T	C	T	DDC	B	missense_variant	M/V	0.00778388	0.993311	NA	NA	0.418	CHEMDEPENDENCY|CANCER|INFECTION	Hypotension|Muscular hypotonia of the trunk|Limb hypertonia|Feeding difficulties in infancy|Autosomal recessive inheritance|Temperature instability|Irritability|Miosis|Constipation|Gastroesophageal reflux|Intermittent hypothermia|Limb dystonia|Babinski sign|Hyperreflexia|Abnormality of the face|Ptosis|Emotional lability|Myoclonus|Global developmental delay|Diarrhea|Hyperhidrosis|Choreoathetosis|Infantile onset|Decreased CSF homovanillic acid (HVA)|Sleep disturbance
chr7	56136260	56068567	C	A	C	SUMF2	B	missense_variant	D/E	0.00137363	0.998616	NA	NA	0.954	NA	NA
chr7	72738749	73324751	A	G	G	TRIM50	B	missense_variant	W/R	0.000457875	NA	Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST	5	1.87	NA	NA
chr7	73814749	74400419	G	C	G	CLIP2	B	missense_variant	R/P	0.00915751	0.982162	Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm19240	5	4.72	NA	NA
chr7	76144455	76515138	A	C	A	UPK3B	C	missense_variant	R/S	0.00824176	0.986891	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Helas3	5	-6.95	NA	NA
chr7	76144560	76515243	T	C	T	UPK3B	C	missense_variant	W/R	0.00824176	0.986257	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Hepg2	5	-5.85	NA	NA
chr7	91714911	92085597	C	T	C	AKAP9	B	missense_variant	P/S	0.00137363	0.997386	Motifs|PWM|LXR	6	2.47	NA	Prolonged QT interval
chr7	113519719	113879664	A	T	A	PPP1R3A	B	missense_variant	N/K	0.00320513	0.996077	Motifs|PWM|Tlx2	6	1.78	METABOLIC|METABOLIC|METABOLIC|METABOLIC	Acanthosis nigricans|Hypertension|Autosomal dominant inheritance|Insulin-resistant diabetes mellitus|Loss of subcutaneous adipose tissue in limbs|Loss of gluteal subcutaneous adipose tissue|Abnormality of the neck|Prominent superficial veins|Decreased subcutaneous fat|Hirsutism|Lipodystrophy|Hyperglycemia|Polycystic ovaries|Oligomenorrhea|Abnormality of the face|Maternal diabetes|Primary amenorrhea|Abnormality of the musculature|Hepatic steatosis|Cirrhosis|Hypoalphalipoproteinemia|Hyperuricemia|Hyperinsulinemia|Hypertriglyceridemia|Preeclampsia
chr7	128455767	128815713	C	G	C	CCDC136	B	missense_variant	Q/E	0.00824176	0.994275	Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Nb4, Protein_Binding|ChIP-seq|SPI1, Protein_Binding|ChIP-seq|SPI1, Protein_Binding|ChIP-seq|MAFK, Protein_Binding|ChIP-seq|MAFK	4	0.915	NA	NA
chr7	139653196	139953397	A	C	C	TBXAS1	B	missense_variant	E/D	0.00320513	0.993234	Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Sknshra, Protein_Binding|ChIP-seq|GATA2	4	-0.525	CANCER	Hematuria|Leukopenia|Increased bone mineral density|Gastrointestinal hemorrhage|Autosomal dominant inheritance|Autosomal recessive inheritance|Bruising susceptibility|Prolonged bleeding time|Thrombocytopenia|Bone marrow hypocellularity|Impaired platelet aggregation|Refractory anemia|Diaphyseal dysplasia|Myelofibrosis|Phenotypic variability|Petechiae|Epistaxis|Hyperostosis cranialis interna
chr7	141747658	142047858	A	G	A	MGAM	B	missense_variant	N/D	0.00412088	0.992608	Motifs|PWM|Gm397	6	5.37	NA	NA
chr7	141857846	142158046	A	G	A	RP11-1220K2.2	B	missense_variant	H/R	0.003663	NA	Motifs|PWM|Nkx3-1, Protein_Binding|ChIP-seq|HNF4A	5	2.18	NA	NA
chr7	143017807	143320714	G	T	G	CLCN1	B	missense_variant	G/W	0.00915751	0.981855	Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Lncap, Protein_Binding|ChIP-seq|TFAP2A, Protein_Binding|ChIP-seq|TFAP2C, Protein_Binding|ChIP-seq|STAT1	4	4.99	OTHER	Muscle stiffness|EMG: myotonic runs|Autosomal dominant inheritance|Autosomal recessive inheritance|Myalgia|Myotonia with warm-up phenomenon|Dysphagia|Childhood onset|Muscle weakness|Muscle hypertrophy|Phenotypic variability|Percussion myotonia|Muscle hypertrophy of the lower extremities
chr7	158672476	158879785	C	G	C	WDR60	B	missense_variant	N/K	0.003663	0.990964	NA	NA	2.63	DEVELOPMENTAL	Pancreatic fibrosis|Depressed nasal bridge|Syndactyly|Autosomal recessive inheritance|Acetabular spurs|Femoral bowing|Short stature|Preaxial polydactyly|Postaxial polydactyly|Narrow chest|Failure to thrive|Macrocephaly|Short ribs|Ventricular septal defect|Polyhydramnios|Pulmonary hypoplasia|Ambiguous genitalia
chr8	6302418	6444897	A	G	A	MCPH1	B	missense_variant	D/G	0.00915751	0.992661	NA	NA	-11.5	NA	Small cerebral cortex|Microcephaly|Heterogeneous|Seizures|Increased rate of premature chromosome condensation|Intellectual disability|Autosomal recessive inheritance|Short stature
chr8	10530218	10672708	C	T	C	C8orf74	B	missense_variant	L/F	0.00915751	0.999917	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|JUN, Protein_Binding|ChIP-seq|ESR1, Protein_Binding|ChIP-seq|STAT3, Protein_Binding|ChIP-seq|JUND	4	1.21	NA	NA
chr8	11301753	11444244	A	C	A	FAM167A	B	missense_variant	H/Q	0.00274725	0.993849	Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|UrotsaUt189	5	2.03	NA	NA
chr8	12878637	13021128	A	G	A	KIAA1456	B	missense_variant	H/R	0.00274725	0.997434	NA	NA	0.659	NA	NA
chr8	17230644	17373135	G	C	G	MTMR7	B	missense_variant	P/A	0.00641026	0.989543	Motifs|PWM|Whn, Motifs|PWM|Srf	6	-1.49	NA	NA
chr8	25234858	25377342	A	G	A	DOCK5	B	missense_variant	K/R	0.00274725	0.994464	Motifs|PWM|Freac-2, Motifs|PWM|Freac-7, Motifs|PWM|FOXfactors, Motifs|PWM|FOXF2, Motifs|PWM|Foxa2, Motifs|PWM|Foxj1, Motifs|PWM|Foxj3, Motifs|PWM|Foxk1, Motifs|PWM|Foxl1, Chromatin_Structure|FAIRE|Astrocy	6	5.47	NA	NA
chr8	40011079	40153560	G	A	G	C8orf4	B	missense_variant	V/I	0.00549451	0.988928	Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|A549, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Astrocy, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huvec, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|JUN, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|JUN	4	-12.2	NA	NA
chr8	74917084	74004849	A	G	A	LY96	B	missense_variant	R/G	0.00915751	0.971545	NA	NA	3.26	NA	NA
chr8	77895865	76983629	A	G	A	PEX2	B	missense_variant	C/R	0.00824176	0.989159	NA	NA	3.59	DEVELOPMENTAL	Talipes equinovarus|Poor suck|Malar flattening|Jaundice|Single transverse palmar crease|Autosomal recessive inheritance|Optic nerve dysplasia|Retinal dystrophy|Brushfield spots|Sensorineural hearing impairment|Epicanthus|Generalized neonatal hypotonia|Elevated levels of phytanic acid|Turricephaly|Opacification of the corneal stroma|Death in childhood|Joint contracture of the hand|Multiple small renal cortical cysts|Cryptorchidism|Dolichocephaly|Muscular hypotonia|Intrahepatic biliary dysgenesis|Cleft palate|Seizures|Intellectual disability|Round face|Very long chain fatty acid accumulation|Global developmental delay|Apnea|Hypertelorism|Malformation of the heart and great vessels|Failure to thrive|Intrauterine growth retardation|Cubitus valgus|Clitoromegaly|Hypoplasia of the thymus|Palpebral edema|Macrogyria|Feeding difficulties in infancy|High forehead|Hepatosplenomegaly|Micrognathia|Metatarsus adductus|Decreased liver function|Epiphyseal stippling|Polymicrogyria|Hepatomegaly|Areflexia|Large fontanelles|Retinitis pigmentosa|Pigmentary retinopathy|Low-set ears|Visual impairment|Upslanted palpebral fissure|Renal cysts|Stippled chondral calcification|Abnormality of the helix|Neonatal hypotonia
chr8	142459814	NA	NA	NA	NA	MROH5	B	missense_variant	G/E	0.0018315	NA	Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|PWM|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Motifs|Footprinting|AREB6, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|FAIRE|UrotsaUt189	5	4.04	NA	NA
chr8	144732418	NA	NA	NA	NA	ZNF623	B	missense_variant	N/D	0.00320513	0.99408	Chromatin_Structure|DNase-seq|Sknmc, Protein_Binding|ChIP-seq|SETDB1, Protein_Binding|ChIP-seq|SETDB1	4	2.26	NA	NA
chr8	144811338	NA	NA	NA	NA	FAM83H	B	missense_variant	Q/H	0.000457875	0.999202	Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|A549	5	2.28	NA	Autosomal dominant inheritance|Amelogenesis imperfecta|Anterior open bite|Dental malocclusion
chr8	144890873	NA	NA	NA	NA	SCRIB	A	missense_variant	V/E	0	NA	Motifs|Footprinting|, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hsmmt, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-exo|CTCF	4	-0.446	NA	NA
chr8	146033347	NA	NA	NA	NA	ZNF517	B	missense_variant	V/A	0.00228938	0.995338	Chromatin_Structure|DNase-seq|Melano	5	-0.838	NA	NA
chr9	4118208	4118208	A	G	A	GLIS3	B	missense_variant	S/P	0.0018315	0.998715	Motifs|PWM|Mafk, Chromatin_Structure|DNase-seq|Gm12865	5	-2.61	IMMUNE|IMMUNE|CHEMDEPENDENCY|METABOLIC|METABOLIC	Congenital hypothyroidism|Intrauterine growth retardation|Congenital glaucoma|Diabetes mellitus|Autosomal recessive inheritance|Cholestasis|Renal cysts
chr9	5557672	5557672	T	C	T	PDCD1LG2	B	missense_variant	F/S	0.0018315	0.99877	Chromatin_Structure|DNase-seq|Gm12892	5	0.724	NA	NA
chr9	20866974	20866975	C	G	G	FOCAD	A	missense_variant	T/S	0	NA	NA	NA	4.54	NA	NA
chr9	33927899	33927901	G	A	G	UBAP2	B	missense_variant	A/V	0.00274725	0.997155	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Medullo	5	-1.44	NA	NA
chr9	114454580	111692300	A	G	A	C9orf84	B	missense_variant	I/T	0.0018315	0.997386	NA	NA	3.2	NA	NA
chr9	117166338	114404058	G	C	C	DFNB31	B	missense_variant	H/Q	0.003663	0.993541	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H7es	5	4.91	NA	Retinitis pigmentosa|Autosomal recessive inheritance|Hearing impairment|Sensorineural hearing impairment
chr9	126125318	123363039	C	A	C	CRB2	B	missense_variant	T/N	0.00274725	0.997231	Motifs|Footprinting|, Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|FAIRE|K562, Protein_Binding|ChIP-seq|AR	5	-8.1	NA	NA
chr9	126133547	123371268	T	C	T	CRB2	B	missense_variant	V/A	0.003663	0.997232	Motifs|PWM|Sox13, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|H9es	5	-6.22	NA	NA
chr9	130494957	127732678	T	C	T	TOR2A	B	missense_variant	K/E	0.00732601	0.988973	Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Wi38	5	5.72	NA	NA
chr9	131085373	128323094	G	C	G	COQ4	B	missense_variant	G/A	0.00137363	0.997049	Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|Footprinting|ZBRK1, Motifs|PWM|ZBRK1, Motifs|Footprinting|ZBRK1, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F1	2b	-2.65	NA	NA
chr9	131235321	128473042	A	G	A	ODF2	C	missense_variant,splice_region_variant	R/G	0.00961538	0.985853	Motifs|PWM|C/EBPbeta, Motifs|PWM|C/EBPdelta, Motifs|PWM|Cebpa	6	-10.1	NA	NA
chr9	131418828	128656549	A	C	A	WDR34	B	missense_variant	W/G	0.00641026	0.998413	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm12892, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF7, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|POLR2A	4	2.12	NA	NA
chr9	131483749	128721470	T	A	T	ZDHHC12	B	missense_variant	Q/L	0.0018315	0.995911	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|8988t	5	-0.423	NA	NA
chr9	131860901	129098622	G	T	G	CRAT	B	missense_variant	L/M	0.00228938	0.996002	Motifs|PWM|Jundm2, Motifs|Footprinting|RREB1, Motifs|Footprinting|, Motifs|Footprinting|, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm12892	5	5.13	NA	NA
chr9	135105964	132230577	A	G	A	NTNG2	B	missense_variant	T/A	0.0018315	0.997	Motifs|Footprinting|, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Ag04449	5	5.07	IMMUNE	NA
chr9	139913239	137018787	T	G	G	ABCA2	A	missense_variant	H/P	0	0.99992	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Medullo	5	4.31	NEUROLOGICAL	NA
chr9	139937795	137043343	T	C	T	NPDC1	C	missense_variant	D/G	0.00503663	NA	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hmec, Protein_Binding|ChIP-seq|ELF1	4	2.27	NA	NA
chr9	140357972	137463520	A	G	A	PNPLA7	B	missense_variant	W/R	0.00274725	0.998688	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Hepg2, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|POLR2A	4	2.16	NA	NA
chr9	140374861	137480409	A	G	G	PNPLA7	A	missense_variant	V/A	0	NA	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t	5	4.02	NA	NA
chr10	5255025	5213062	A	G	A	AKR1C4	B	missense_variant	Q/R	0.000457875	NA	Motifs|PWM|Pit-1, Motifs|PWM|Oct-1, Protein_Binding|ChIP-seq|AR	5	-1.26	NA	NA
chr10	7763661	7721698	A	G	A	ITIH2	B	missense_variant	N/S	0.00824176	0.988928	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Cll	5	-3.6	NA	NA
chr10	13166076	13124076	A	G	G	OPTN	B	missense_variant	K/E	0.00869963	0.99062	NA	NA	6.17	VISION|VISION|VISION|VISION|VISION|VISION|VISION|VISION|VISION	Primary open angle glaucoma|Muscle weakness|Autosomal dominant inheritance|Myopia|Tongue fasciculations|Dysarthria|Dysphagia
chr10	16943371	16901372	G	C	G	CUBN	A	missense_variant	S/W	0	0.999923	Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|FAIRE|H1hesc, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|FAIRE|Nhbe, Protein_Binding|ChIP-seq|NANOG, Protein_Binding|ChIP-seq|SP1	4	5.72	METABOLIC|OTHER	Childhood onset|Sensory impairment|Confusion|Malabsorption of Vitamin B12|Autosomal recessive inheritance|Paresthesia|Proteinuria|Megaloblastic anemia|Dementia
chr10	16967401	16925402	C	T	C	CUBN	B	missense_variant	C/Y	0.00457875	0.999616	Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi-1, Motifs|PWM|Evi1, Motifs|PWM|Evi1	6	-6.18	METABOLIC|OTHER	Childhood onset|Sensory impairment|Confusion|Malabsorption of Vitamin B12|Autosomal recessive inheritance|Paresthesia|Proteinuria|Megaloblastic anemia|Dementia
chr10	17659149	17617150	C	T	C	PTPLA	B	missense_variant	E/K	0.00686813	0.960571	Motifs|Footprinting|AP-2, Motifs|PWM|AP-2, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm06990, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|GATA1	2b	2.04	NA	NA
chr10	22498749	22209820	A	T	A	EBLN1	B	missense_variant	V/D	0.000915751	NA	NA	NA	0.444	NA	NA
chr10	29822032	29533103	C	T	C	SVIL	B	missense_variant	V/I	0.00961538	0.987621	NA	NA	0.74	IMMUNE	NA
chr10	50724016	49515970	C	T	C	ERCC6-PGBD3	B	missense_variant	R/K	0.003663	0.993926	NA	NA	0.699	OTHER|NEUROLOGICAL|OTHER|OTHER|RENAL	NA
chr10	50820345	49612299	C	A	C	SLC18A3	B	missense_variant	A/E	0.00274725	0.995767	Motifs|PWM|Dmbx1, Motifs|PWM|znf143, Motifs|PWM|GTF2IRD1-isoform2, Chromatin_Structure|DNase-seq|Helas3	5	-2.77	NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL	NA
chr10	71018660	69258904	T	C	T	HKDC1	B	missense_variant	W/R	0.00686813	0.993541	Motifs|PWM|GCNF, Motifs|PWM|Pax-6	6	2	NA	NA
chr10	71168685	69408929	A	T	A	TACR2	A	missense_variant	M/K	0	NA	Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|PWM|CTCF, Motifs|PWM|CTCF, Motifs|PWM|CTCF, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Monocd14, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|FAIRE|Mcf7, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Gm12865, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCFL, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	2a	4.88	OTHER	NA
chr10	98078239	96318482	A	G	A	DNTT	B	missense_variant	R/G	0.00732601	0.990697	NA	NA	-3.49	NA	NA
chr10	99991408	98231651	A	G	A	R3HCC1L	B	missense_variant	H/R	0.00686813	0.990389	Chromatin_Structure|DNase-seq|K562, Protein_Binding|ChIP-seq|TAL1	4	5.73	NA	NA
chr10	101544447	99784690	A	T	A	ABCC2	B	missense_variant	Y/F	0.00412088	0.993465	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|A549, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|A549, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	5.58	METABOLIC|PHARMACOGENOMIC|PHARMACOGENOMIC|RENAL|PHARMACOGENOMIC|OTHER|PHARMACOGENOMIC|UNKNOWN|NEUROLOGICAL	Biliary tract abnormality|Jaundice|Autosomal recessive inheritance|Conjugated hyperbilirubinemia
chr10	102882635	101122878	A	G	A	HUG1	B	missense_variant	N/D	0.0018315	NA	Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|PWM|GATA-1, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|PWM|GATA-4, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hmec, Protein_Binding|ChIP-seq|SUZ12, Protein_Binding|ChIP-seq|IKZF1	2b	-2.17	NA	NA
chr10	102882636	101122879	A	C	A	HUG1	B	missense_variant	N/T	0.00457875	NA	Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|PWM|GATA-1, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|Footprinting|GATA-4, Motifs|PWM|GATA-4, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hmec, Protein_Binding|ChIP-seq|SUZ12, Protein_Binding|ChIP-seq|IKZF1	2b	1.83	NA	NA
chr10	112572458	110812700	G	C	C	RBM20	B	missense_variant	W/S	0.000915751	0.993649	Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|H7es, Protein_Binding|ChIP-seq|FOSL2, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|HNF4A	4	-2.2	NA	Autosomal dominant inheritance|Dilated cardiomyopathy|Sudden cardiac death
chr10	125506302	123746786	T	C	T	CPXM2	C	missense_variant	Q/R	0.00961538	0.982239	Motifs|PWM|KROX, Motifs|PWM|Egr1, Motifs|Footprinting|KROX, Motifs|Footprinting|KROX, Chromatin_Structure|DNase-seq|H7es, Protein_Binding|ChIP-seq|EGR1	2b	4.34	NA	NA
chr10	131309383	129511119	A	G	A	AL355531.2	B	missense_variant	L/P	0.000457875	NA	NA	NA	-0.256	CANCER|CANCER|CANCER|CANCER|CANCER|CANCER|CANCER	NA
chr10	135165790	133352286	A	G	A	PRAP1	C	missense_variant	H/R	0.00595238	0.989543	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hl60, Protein_Binding|ChIP-seq|CDX2	4	-5.74	NA	NA
chr10	135233541	133420037	A	G	A	MTG1	B	missense_variant	I/V	0.003663	0.996771	Motifs|Footprinting|MEF-2, Motifs|PWM|MEF-2, Motifs|PWM|MEF-2, Motifs|PWM|MEF-2, Motifs|PWM|RSRFC4, Motifs|Footprinting|Pax-4, Motifs|PWM|Pax-4, Motifs|PWM|RSRFC4, Motifs|PWM|MEF2A, Motifs|PWM|Srf, Motifs|PWM|Zfp105, Chromatin_Structure|DNase-seq|Werirb1	5	4.25	NA	NA
chr11	433387	433387	A	G	G	ANO9	A	missense_variant	F/L	0	NA	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Protein_Binding|ChIP-seq|IKZF1	4	4.08	NA	NA
chr11	2424684	2403454	A	C	A	TSSC4	C	missense_variant	H/P	0.00549451	0.993215	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Werirb1	5	0.662	NA	NA
chr11	7670440	7649209	A	G	A	PPFIBP2	B	missense_variant	R/G	0.000457875	0.998307	NA	NA	5.3	NA	NA
chr11	9052423	9030876	A	C	C	SCUBE2	B	missense_variant	H/Q	0.0018315	0.997614	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|8988t	5	4.47	NA	NA
chr11	13398129	13376582	T	A	T	ARNTL	B	missense_variant	W/R	0.00595238	NA	Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Hrgec, Protein_Binding|ChIP-seq|IKZF1	4	3.7	PSYCH|OTHER	NA
chr11	17333663	17312116	G	A	A	NUCB2	A	missense_variant	S/N	0	0.999915	Motifs|PWM|Sfpi1	6	3.03	NA	NA
chr11	20623156	20601610	C	G	C	SLC6A5	B	missense_variant	A/G	0.003663	0.993234	Motifs|PWM|AP-1, Motifs|PWM|Bach2, Motifs|PWM|AP-1, Motifs|PWM|NF-E2, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hffmyc	5	5.59	NA	Infantile onset|Muscle stiffness|Autosomal dominant inheritance|Autosomal recessive inheritance|Hypertonia|Apnea
chr11	34152939	34131392	T	C	T	NAT10	B	missense_variant	Y/H	0.000457875	0.997462	Motifs|PWM|Nkx2-5, Motifs|PWM|TTF1(Nkx2-1)	6	5.76	NA	NA
chr11	43911365	43889815	T	C	T	ALKBH3	B	missense_variant	L/P	0.00274725	0.996771	NA	NA	-7.52	NA	NA
chr11	45937267	45915716	C	T	C	PEX16	A	missense_variant	V/I	0	NA	Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|H9es	5	5.29	NA	Cataract|Ataxia|Seizures|Feeding difficulties in infancy|Optic atrophy|Visual impairment|Death in infancy|Very long chain fatty acid accumulation|Autosomal recessive inheritance|Global developmental delay|Retinal dystrophy|Sensorineural hearing impairment|Generalized neonatal hypotonia|Severe global developmental delay|Decreased liver function|Ventricular septal defect|Epiphyseal stippling|Hepatomegaly|Neonatal hypotonia
chr11	49974371	49952819	G	A	G	OR4C13	B	missense_variant	V/I	0.00228938	0.997306	NA	NA	2.95	NA	NA
chr11	55587511	55820035	A	G	A	OR5D18	B	missense_variant	N/D	0.003663	0.996536	NA	NA	1.9	NA	NA
chr11	55681494	55914018	G	A	G	OR5W2	B	missense_variant	R/C	0.000915751	0.999384	NA	NA	5	NA	NA
chr11	55873024	56105548	A	G	A	OR8H2	B	missense_variant	Y/C	0.000915751	0.997845	NA	NA	3.58	NA	NA
chr11	55873368	56105892	G	A	G	OR8H2	B	missense_variant	V/M	0.000915751	0.997844	NA	NA	3.58	NA	NA
chr11	55890257	56122781	C	T	C	OR8H3	B	missense_variant	P/S	0.0018315	0.997844	Chromatin_Structure|DNase-seq|Hsmmt	5	2.28	NA	NA
chr11	58207204	58439731	A	G	A	OR5B12	B	missense_variant	C/R	0.00824176	NA	NA	NA	-8.89	NA	NA
chr11	62292882	62525410	G	T	G	AHNAK	A	missense_variant	Q/K	0	NA	NA	NA	3.97	NA	NA
chr11	64677293	64909821	G	C	G	ATG2A	B	missense_variant	P/R	0.000457875	0.99946	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Progfib	5	4.67	NA	NA
chr11	64809090	65041618	T	G	T	SAC3D1	B	missense_variant	L/R	0.00457875	0.998681	Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|FAIRE|Urotsa, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	4	3.9	NA	NA
chr11	64856500	65089028	A	G	A	TMEM262	B	missense_variant	W/R	0.00274725	NA	Motifs|Footprinting|Hmx3(Nkx5-1), Motifs|PWM|Hmx3(Nkx5-1), Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|8988t	5	5.29	NA	NA
chr11	64878661	65111189	T	C	T	VPS51	B	missense_variant	L/P	0.000457875	NA	Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|PWM|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|GATA-1, Motifs|Footprinting|Gata1, Motifs|Footprinting|Gata1, Motifs|PWM|Gata1, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepg2, Protein_Binding|ChIP-seq|CDX2	2b	-2.98	NA	NA
chr11	65347636	65580165	G	C	G	EHBP1L1	B	missense_variant	V/L	0.00137363	0.999374	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19239, Protein_Binding|ChIP-seq|MYC	4	4.39	NA	NA
chr11	65385606	65618135	A	G	A	PCNXL3	B	missense_variant	Q/R	0.00274725	0.995288	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hepatocytes, Protein_Binding|ChIP-seq|IKZF1	4	3.04	NA	NA
chr11	66472274	66704803	T	C	T	SPTBN2	B	missense_variant	S/G	0.00869963	0.988149	Motifs|Footprinting|BCL6, Motifs|Footprinting|BCL6, Motifs|Footprinting|STAT5A(homodimer), Motifs|Footprinting|STAT5B(homodimer), Motifs|Footprinting|STAT5A(homodimer), Motifs|Footprinting|STAT5B(homodimer), Motifs|Footprinting|STAT5A(homodimer), Motifs|Footprinting|STAT5B(homodimer), Motifs|Footprinting|BCL6, Motifs|Footprinting|STAT5A(homodimer), Motifs|Footprinting|STAT5B(homodimer), Motifs|Footprinting|BCL6, Motifs|PWM|STAT5A(homodimer), Motifs|PWM|STAT5B(homodimer), Motifs|PWM|BCL6, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75	5	4.97	NA	Onset|Gait ataxia|Slow progression|Impaired smooth pursuit|Dysmetria|Delayed speech and language development|Incoordination|Autosomal dominant inheritance|Autosomal recessive inheritance|Limb ataxia|Jerky ocular pursuit movements|Global developmental delay|Dysdiadochokinesis|Dysarthria|Facial myokymia|Gaze-evoked nystagmus|Spasticity|Intention tremor|Infantile onset|Impaired vibratory sensation|Hypometric saccades|Nystagmus|Hyperreflexia|Cerebellar atrophy
chr11	66837965	67070494	T	C	C	RHOD	A	missense_variant	C/R	0	0.999846	Motifs|PWM|Isl2, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75	5	4.75	NA	NA
chr11	67258391	67490920	A	G	G	AIP	A	missense_variant	Q/R	0	0.999769	Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|POLR2A	4	4.49	NA	Kyphosis|Hypertension|Autosomal dominant inheritance|Somatic mutation|Coarse facial features|Cardiomyopathy|Increased circulating ACTH level|Amyotrophy|Left ventricular hypertrophy|Biconcave vertebral bodies|Osteoporosis|Hirsutism|Facial erythema|Oligomenorrhea|Psychotic mentation|Abnormal fear/anxiety-related behavior|Striae distensae|Nephrolithiasis|Abnormality of metabolism/homeostasis|Vertebral compression fractures|Bruising susceptibility|Poor wound healing|Menstrual irregularities|Purpura|Alkalosis|Pituitary adenoma|Edema|Glucose intolerance|Abnormality of the breast|Hypokalemia|Thin skin|Obesity|Pituitary prolactin cell adenoma|Growth hormone excess
chr11	67432804	67665333	T	C	T	ALDH3B2	B	missense_variant	S/G	0.00137363	0.999769	Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Gm19240	5	3.21	NA	NA
chr11	67957518	68190051	A	T	T	SUV420H1	A	missense_variant	I/N	0	NA	NA	NA	5.77	NA	NA
chr11	71184678	71473632	A	C	A	NADSYN1	A	missense_variant	Q/H	0	NA	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|T47d, Protein_Binding|ChIP-seq|IKZF1	4	1.05	NA	NA
chr11	74904362	75193317	T	C	C	SLCO2B1	A	missense_variant	I/T	0	NA	Motifs|PWM|FOXL1, Motifs|PWM|Ehf, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|FAIRE|Mcf7, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hee	5	3.3	NA	NA
chr11	89133449	89400281	C	T	C	NOX4	B	missense_variant	M/I	0.00274725	0.993077	Motifs|PWM|Hoxb6, Motifs|PWM|Dlx3, Motifs|PWM|Nkx6-1	6	-2.82	NA	NA
chr11	101771248	101900517	G	A	G	ANGPTL5	B	missense_variant	R/W	0.00549451	0.995078	NA	NA	4.88	NA	NA
chr11	101832478	101961747	G	T	T	KIAA1377	A	missense_variant	G/C	0	NA	Motifs|PWM|Rxra	6	1.79	NA	NA
chr11	104761206	104890479	C	T	T	CASP12	A	missense_variant	G/S	0	NA	NA	NA	-7.62	NA	NA
chr11	108183167	108312440	A	G	G	ATM	A	missense_variant	N/S	0	NA	NA	NA	-0.136	CANCER|CANCER|CANCER|CANCER|CANCER|OTHER|OTHER|CANCER|CANCER|CANCER|CANCER|CANCER|CANCER	Cafe-au-lait spot|Abnormal spermatogenesis|Delayed puberty|Diabetes mellitus|Autosomal recessive inheritance|Defective B cell differentiation|Short stature|Leukemia|Female hypogonadism|Abnormality of the hair|Immunoglobulin IgG2 deficiency|Lymphopenia|Elevated alpha-fetoprotein|Lymphoma|Nystagmus|IgA deficiency|Tremor|Myoclonus|Ataxia|Decreased number of CD4+ T cells|Seizures|Conjunctival telangiectasia|Dysarthria|Bronchiectasis|Dystonia|Recurrent bronchitis|Glucose intolerance|Choreoathetosis|Sinusitis|Strabismus|Reduced tendon reflexes|Hypoplasia of the thymus
chr11	108380335	108509608	T	C	C	EXPH5	A	missense_variant	N/D	0	0.999385	NA	NA	5.8	NA	Autosomal recessive inheritance|Hyperkeratosis|Fragile skin
chr11	112832353	112961631	T	C	C	NCAM1	A	missense_variant	F/L	0	NA	Chromatin_Structure|DNase-seq|Lncap	5	3.88	PSYCH|PSYCH	NA
chr11	117160347	117289631	A	G	G	BACE1	A	missense_variant	C/R	0	0.999538	Motifs|PWM|FAC1, Protein_Binding|ChIP-seq|GATA2	5	5.65	NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL	NA
chr11	118529069	118658360	G	C	C	TREH	A	missense_variant	P/A	0	NA	Chromatin_Structure|DNase-seq|Hepatocytes	5	1.33	NA	Autosomal recessive inheritance|Diarrhea
chr11	118529078	118658369	G	C	C	TREH	B	missense_variant	P/A	0.00137363	NA	Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm19238	5	-9.7	NA	Autosomal recessive inheritance|Diarrhea
chr11	121032978	121162269	G	A	G	TECTA	B	missense_variant	S/N	0.00320513	0.992079	Chromatin_Structure|DNase-seq|T47d	5	5.54	OTHER	Autosomal dominant inheritance|Autosomal recessive inheritance|Sensorineural hearing impairment
chr11	123754844	123884137	T	C	C	TMEM225	A	missense_variant	N/S	0	0.999385	Motifs|PWM|Srf, Motifs|PWM|Srf	6	-2.09	NA	NA
chr11	134182375	134312481	G	A	G	GLB1L3	B	missense_variant	V/M	0.00274725	0.999764	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|T47d	5	-8	NA	NA
chr12	2791205	2682039	A	G	G	CACNA1C	A	missense_variant	K/R	0	0.999806	Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|UrotsaUt189	5	-1.63	PHARMACOGENOMIC|PSYCH|PHARMACOGENOMIC	J wave|Prolonged QT interval|Sudden death|Autosomal dominant inheritance|Syndactyly|Sudden cardiac death|Shortened QT interval|Ventricular arrhythmia|Syncope|Atrial fibrillation
chr12	6560473	6451307	A	G	A	CD27	B	missense_variant	H/R	0.00320513	0.991696	Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|PWM|IPF1, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|K562, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|NFKB1	2b	1.88	NA	Splenomegaly|Lymphoproliferative disorder|Lymphadenopathy|Aplastic anemia|Hypogammaglobulinemia|Variable expressivity|Autosomal recessive inheritance|Hemophagocytosis|Ascites|Lymphoma|Hepatomegaly|Fever
chr12	7079215	6970052	T	G	T	PHB2	B	missense_variant	E/A	0.00778388	NA	Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh75, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NR2C2, Protein_Binding|ChIP-seq|NR2C2, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|HNF4A	4	-0.368	NA	NA
chr12	7551022	7398426	A	T	A	CD163L1	B	missense_variant	L/M	0.00412088	0.991312	Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Wi38, Protein_Binding|ChIP-seq|AR	4	-0.69	NA	NA
chr12	9248233	9095637	T	C	T	A2M	B	missense_variant	N/D	0.0018315	0.997653	Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Fibrop	5	-6.26	NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|IMMUNE|NEUROLOGICAL|NEUROLOGICAL|NEUROLOGICAL|NORMALVARIATION|METABOLIC|NEUROLOGICAL	Abnormality of metabolism/homeostasis|Autosomal dominant inheritance
chr12	9307373	9154777	T	G	T	PZP	B	missense_variant	T/P	0.00915751	0.977703	NA	NA	0.627	NA	NA
chr12	14829893	14676959	A	C	A	GUCY2C	B	missense_variant	F/L	0.00915751	0.98716	Motifs|PWM|Rfx3, Motifs|PWM|MIF-1	6	-1.85	NA	Meconium ileus|Microcolon|Autosomal dominant inheritance|Vitamin B12 deficiency|Autosomal recessive inheritance|Abdominal pain
chr12	16369828	16216894	A	T	A	SLC15A5	B	missense_variant,splice_region_variant	D/E	0.00228938	0.995401	Motifs|PWM|NF-AT, Chromatin_Structure|FAIRE|Panislets	6	5.15	NA	NA
chr12	25261735	25108801	G	T	G	CASC1	C	missense_variant	A/E	0.00274725	0.998616	NA	NA	4.31	NA	NA
chr12	27800746	27647813	G	T	G	PPFIBP1	B	missense_variant	V/L	0.00503663	0.993541	NA	NA	-9.06	NA	NA
chr12	40869452	40475650	G	T	G	MUC19	C	missense_variant	A/S	0.00869963	NA	NA	NA	1.23	NA	NA
chr12	55945119	55551335	A	G	A	OR6C4	B	missense_variant	I/V	0.00732601	0.98962	NA	NA	1.82	NA	NA
chr12	58204283	57810500	T	C	T	AVIL	A	missense_variant	K/E	0	NA	Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Gliobla	5	5.19	NA	NA
chr12	64587633	64193853	C	A	C	C12orf66	B	missense_variant	A/S	0.00412088	0.99352	Motifs|PWM|IPF1	6	6.07	NA	NA
chr12	101750814	101357036	T	A	T	UTP20	B	missense_variant	L/Q	0.00641026	0.991927	Motifs|PWM|HOXC13, Motifs|PWM|Hoxa11, Motifs|PWM|Hoxa13, Motifs|PWM|Hoxc13	6	4.66	NA	NA
chr12	111786082	111348278	G	C	G	CUX2	A	missense_variant	V/L	0	NA	NA	NA	4.25	NA	NA
chr12	114377899	113940094	G	C	G	RBM19	B	missense_variant	Q/E	0.00457875	0.993849	Chromatin_Structure|DNase-seq|Chorion	5	3.36	NA	NA
chr12	120575549	120137745	A	C	C	GCN1L1	B	missense_variant	Y/D	0.0018315	0.997803	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Werirb1	5	5.37	NA	NA
chr12	121437382	120999579	A	G	A	HNF1A	B	missense_variant	S/G	0.00915751	0.986887	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	2.58	METABOLIC|UNKNOWN|METABOLIC|METABOLIC|METABOLIC|CARDIOVASCULAR|METABOLIC|METABOLIC|METABOLIC|METABOLIC	Type II diabetes mellitus|Type I diabetes mellitus|Infantile onset|Autosomal dominant inheritance|Renal cell carcinoma|Hyperglycemia|Polycystic ovaries|Hepatocellular adenoma|Maturity-onset diabetes of the young
chr12	121622520	121184717	A	T	T	P2RX7	B	missense_variant	N/I	0.00915751	0.983421	Motifs|PWM|Hic1, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|FAIRE|Nhek, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	3a	5.47	INFECTION|INFECTION|PSYCH|INFECTION|OTHER|INFECTION	NA
chr12	125397750	124913204	A	G	G	UBC	A	missense_variant	S/P	0	NA	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Caco2	5	2.42	NA	NA
chr12	132403161	131918616	A	G	A	ULK1	B	missense_variant	T/A	0.00595238	0.990471	Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|PWM|znf143, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|UrotsaUt189	5	-5.91	NA	NA
chr13	39263714	38689577	T	C	C	FREM2	A	missense_variant	S/P	0	0.999769	Motifs|PWM|Foxa2, Motifs|PWM|Mtf1, Motifs|PWM|Sox1, Chromatin_Structure|FAIRE|Medullo	6	4.94	NA	Atresia of the external auditory canal|Autosomal recessive inheritance|Dental crowding|Aplasia/Hypoplasia of the phalanges of the hand|Skull defect|Severe T-cell immunodeficiency|Conductive hearing impairment|Aplasia/Hypoplasia of the thumb|Absent eyelashes|Bicornuate uterus|Vaginal atresia|Cryptorchidism|Dental malocclusion|Meningomyelocele|Cleft palate|Facial cleft|Wide nose|Lacrimal duct aplasia|Intellectual disability|Cryptophthalmos|Cleft ala nasi|Abnormality of the anus|Extension of hair growth on temples to lateral eyebrow|Laryngeal stenosis|Aplasia/Hypoplasia of the sternum|Hypertelorism|Hypospadias|Subglottic stenosis|Midline nasal groove|Wide pubic symphysis|Abnormality of the heart|Absent eyebrow|Micropenis|Anophthalmia|Encephalocele|Bilateral microphthalmos|Wide nasal bridge|Underdeveloped nasal alae|Hypoplastic superior helix|Renal hypoplasia/aplasia|Clitoromegaly|Pulmonary hypoplasia|Difficulty in tongue movements|Abnormality of the thymus|Cleft upper lip|Depressed nasal bridge|Blindness|Abnormality of the small intestine|Corneal opacity|Choanal stenosis|Renal hypoplasia|Upper eyelid coloboma|Hydrocephalus|Partial laryngeal atresia|Abnormality of the umbilicus|Low-set ears|Abnormal cortical gyration|Abnormality of the pinna|Cupped ear|Microcephaly|Malformed lacrimal ducts|Cutaneous finger syndactyly|Morphological abnormality of the middle ear|Wide intermamillary distance
chr13	47260054	46685919	T	C	T	LRCH1	B	missense_variant	S/P	0.00137363	0.998155	NA	NA	5.93	METABOLIC	NA
chr13	53035925	52461790	A	G	A	CKAP2	B	missense_variant	I/V	0.000457875	0.999692	Chromatin_Structure|FAIRE|H1hesc, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|FAIRE|Medullo, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Ips	5	-1.67	NA	NA
chr13	103385015	102732665	A	G	A	CCDC168	B	missense_variant	L/P	0.00412088	0.997153	NA	NA	1.34	NA	NA
chr13	103388220	102735870	A	G	A	CCDC168	B	missense_variant	S/P	0.00869963	0.991459	Motifs|PWM|FOXP1, Motifs|PWM|Octamer, Motifs|PWM|Octamer, Motifs|PWM|POU1F1, Motifs|PWM|Pou3f3, Motifs|PWM|Pou3f3, Motifs|PWM|Sox13, Chromatin_Structure|FAIRE|Panislets	6	-2.28	NA	NA
chr13	103527849	102875499	G	C	G	ERCC5	B	missense_variant	G/R	0.000457875	0.997463	Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Helas3	5	4.28	CANCER|CANCER|CANCER|CANCER	Abnormality of metabolism/homeostasis|Autosomal dominant inheritance|Autosomal recessive inheritance|Abnormality of the skin|Defective DNA repair after ultraviolet radiation damage
chr13	103527930	102875580	G	C	G	ERCC5	B	missense_variant	G/R	0.000457875	0.997463	Motifs|PWM|Tcfap2e	6	0.141	CANCER|CANCER|CANCER|CANCER	Abnormality of metabolism/homeostasis|Autosomal dominant inheritance|Autosomal recessive inheritance|Abnormality of the skin|Defective DNA repair after ultraviolet radiation damage
chr13	110839550	110187203	T	G	G	COL4A1	A	missense_variant	T/P	0	NA	Motifs|PWM|E2A, Motifs|Footprinting|E2A, Motifs|Footprinting|E2A, Chromatin_Structure|DNase-seq|Melano	5	4.66	IMMUNE|UNKNOWN|CARDIOVASCULAR	Porencephaly|Cerebral aneurysm|Autosomal dominant inheritance|Variable expressivity|Hypopigmentation of the fundus|Ischemic stroke|Stroke|Migraine with aura|Blurred vision|Muscle cramps|Posterior leukoencephalopathy|Renal insufficiency|Scotoma|Limb dystonia|Hypoplasia of the iris|Retinal hemorrhage|Babinski sign|Exotropia|Hydrocephalus|Hematuria|Supraventricular arrhythmia|Hemiplegia|Congenital cataract|Seizures|Intellectual disability|Amblyopia|Visual field defect|Renal cysts|Spasticity|Leukoencephalopathy|Hemiparesis|Retinal detachment|Tetraparesis|Retinal arteriolar tortuosity
chr13	111368164	110715817	T	G	G	ING1	A	missense_variant	L/R	0	0.998931	Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|Caco2, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|NFYA, Protein_Binding|ChIP-seq|NFYA, Protein_Binding|ChIP-seq|NFYB, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|RFX5, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF7, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	-4.35	NA	Autosomal recessive inheritance|Squamous cell carcinoma
chr14	23549379	23080170	C	G	C	ACIN1	B	missense_variant	A/P	0.000457875	0.996617	NA	NA	5.42	NA	NA
chr14	23777374	23308165	A	G	A	BCL2L2-PABPN1	B	missense_variant	Q/R	0.00137363	0.997693	Motifs|PWM|NF-AT	6	1.43	NA	NA
chr14	24567498	24098289	A	C	C	PCK2	A	missense_variant	Q/P	0	NA	NA	NA	5.19	NA	Hypoglycemia|Autosomal recessive inheritance|Fatty kidney|Hepatic steatosis|Hepatic failure|Impaired gluconeogenesis
chr14	24614361	24145152	T	G	T	PSME2	C	missense_variant	H/P	0.00595238	0.992234	NA	NA	4.39	NA	NA
chr14	31582380	31113174	A	G	G	HECTD1	A	missense_variant	L/P	0	NA	NA	NA	2.4	NA	NA
chr14	36004075	35534869	A	G	A	INSM2	B	missense_variant	D/G	0.00320513	0.996689	Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|FAIRE|Huvec	5	1.63	NA	NA
chr14	61445967	60979249	A	G	G	TRMT5	A	missense_variant	S/P	0	NA	Motifs|PWM|HMGA2, Chromatin_Structure|DNase-seq|Sknmc	5	4.84	NA	NA
chr14	75513883	75047180	T	C	T	MLH3	B	missense_variant	N/D	0.00686813	0.988774	Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|H1hesc	5	1.33	OTHER|CANCER	Neoplasm of the stomach|Transitional cell carcinoma of the bladder|Autosomal dominant inheritance|Renal cell carcinoma|Uterine leiomyosarcoma|Hereditary nonpolyposis colorectal carcinoma|Endometrial carcinoma
chr14	98444369	97978032	T	C	T	C14orf64	B	missense_variant	N/S	0.00320513	NA	Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Th2, Chromatin_Structure|DNase-seq|Th1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	-1.53	NA	NA
chr14	100847523	100381186	T	C	T	WDR25	B	missense_variant	W/R	0.000915751	0.998308	NA	NA	0.938	NA	NA
chr14	101198417	100732080	A	G	A	DLK1	B	missense_variant	R/G	0.000915751	0.996771	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Protein_Binding|ChIP-seq|RFX3	4	1.36	IMMUNE	NA
chr14	103934488	103468151	T	C	C	MARK3	A	missense_variant	F/S	0	NA	Motifs|Footprinting|	6	5.63	NA	NA
chr14	106303846	105837512	C	T	T	IGHD	B	missense_variant	A/T	0.00137363	NA	Motifs|PWM|NRSF, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|FAIRE|Gm12891, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	3a	3.59	NA	NA
chr15	40573716	40281515	A	G	A	ANKRD63	B	missense_variant	S/P	0.00274725	NA	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Monocd14, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|FAIRE|Gm12891	5	3.82	NA	NA
chr15	48443699	48151502	T	C	C	MYEF2	A	missense_variant	Q/R	0	0.999461	Motifs|PWM|Zfp410	6	5.81	NA	NA
chr15	48460927	48168730	C	T	C	MYEF2	B	missense_variant	A/T	0.00549451	0.991608	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Lncap	5	2.28	NA	NA
chr15	48580713	48288516	T	C	T	SLC12A1	B	missense_variant,splice_region_variant	V/A	0.00137363	0.997437	Protein_Binding|ChIP-seq|MAFF, Protein_Binding|ChIP-seq|MAFK	5	4.5	CARDIOVASCULAR	Hyperprostaglandinuria|Increased urinary chloride|Hypomagnesemia|Autosomal recessive inheritance|Paresthesia|Renal potassium wasting|Hyposthenuria|Short stature|Muscle cramps|Increased urinary potassium|Constipation|Osteopenia|Chondrocalcinosis|Tetany|Hypokalemic metabolic alkalosis|Polyuria|Increased circulating renin level|Seizures|Intellectual disability|Global developmental delay|Hyperaldosteronism|Renal juxtaglomerular cell hypertrophy/hyperplasia|Generalized muscle weakness|Increased serum prostaglandin E2|Diarrhea|Dehydration|Fever|Vomiting|Hypercalciuria|Failure to thrive|Hypochloremia|Polyhydramnios|Fetal polyuria|Hypokalemia|Renal salt wasting|Low-to-normal blood pressure|Hyperactive renin-angiotensin system|Small for gestational age|Nephrocalcinosis|Premature birth
chr15	48807637	48515440	C	T	T	FBN1	A	missense_variant	C/Y	0	NA	NA	NA	5.93	DEVELOPMENTAL|DEVELOPMENTAL|CARDIOVASCULAR|CARDIOVASCULAR|OTHER|CARDIOVASCULAR|OTHER|CARDIOVASCULAR|DEVELOPMENTAL|OTHER|CARDIOVASCULAR|OTHER|DEVELOPMENTAL|CANCER	Delayed skeletal maturation|Pulmonic stenosis|Narrow face|Patent ductus arteriosus|Kyphoscoliosis|Severe Myopia|Malar flattening|Broad phalanges of the hand|Flexion contracture|Retrognathia|Autosomal dominant inheritance|Medial rotation of the medial malleolus|Myopia|Long face|Mitral valve prolapse|Congestive heart failure|Aortic regurgitation|Aortic valve stenosis|Hypoplasia of the iris|Mitral regurgitation|Dolichocephaly|Incisional hernia|Hoarse voice|Cataract|Round face|Long eyelashes|Pulmonary artery dilatation|Hypertelorism|Smooth philtrum|Spondylolisthesis|Ovoid vertebral bodies|Ventricular septal defect|Full cheeks|Pectus carinatum|Dural ectasia|Joint stiffness|Retinal detachment|Joint hypermobility|Limitation of joint mobility|Long philtrum|Broad ribs|Blindness|Micrognathia|Peripheral neuropathy|Hypoplasia of the maxilla|Fifth metacarpal with ulnar notch|Hepatomegaly|Overgrowth|Short phalanx of finger|Striae distensae|Tall stature|Shallow orbits|Ectopia lentis|Shallow anterior chamber|Proportionate short stature|Muscle weakness|Severe short stature|Short long bones|Thin bony cortex|Premature calcification of mitral annulus|Short metacarpal|Thickened skin|Pes planus|Pes cavus|Bulbous nose|Hammertoe|Dental crowding|Abnormality of the skin|Broad metacarpals|Short foot|Aortic root dilatation|Broad metatarsal|Cone-shaped epiphysis|Spinal canal stenosis|Misalignment of teeth|Short palm|Deep philtrum|Decreased muscle mass|Emphysema|Increased axial globe length|Genu recurvatum|Pneumothorax|Narrow mouth|Intellectual disability, mild|Protrusio acetabuli|Narrow palate|Thick lower lip vermilion|Disproportionate tall stature|Pulmonary hypertension|Respiratory insufficiency|Depressed nasal bridge|Brachydactyly syndrome|Broad skull|Premature osteoarthritis|Short stature|Arachnodactyly|Tricuspid valve prolapse|Anteverted nares|Mitral stenosis|Broad palm|Decreased subcutaneous fat|Abnormality of the sternum|Pectus excavatum|High palate|Thin upper lip vermilion|Lipodystrophy|Aortic dilatation|Lumbar hyperlordosis|Aortic dissection|Glaucoma|Scoliosis|Downslanted palpebral fissures|Abnormality of dental morphology|Brachycephaly|Deeply set eye|Ascending aortic aneurysm
chr15	54306925	54014728	G	A	G	UNC13C	B	missense_variant	G/S	0.00869963	0.984785	NA	NA	0.513	NEUROLOGICAL	NA
chr15	56386577	56094379	T	G	G	RFX7	A	missense_variant	N/H	0	0.999919	Motifs|PWM|FOXP1, Motifs|PWM|HFH4(FOXJ1), Motifs|PWM|FOXO1, Motifs|PWM|FOXO1, Motifs|PWM|Tcf3, Chromatin_Structure|FAIRE|A549	6	5.89	NA	NA
chr15	57731335	57439137	A	C	A	CGNL1	B	missense_variant	T/P	0.003663	0.993677	NA	NA	4.87	NA	NA
chr15	67768151	67475813	G	C	G	IQCH	B	missense_variant	V/L	0.00228938	0.997462	NA	NA	-0.479	NA	NA
chr15	90784207	90240975	A	G	A	GDPGP1	B	missense_variant	R/G	0.000457875	0.999846	Motifs|PWM|NRF-1, Motifs|PWM|Zfp161, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Cll	5	0.179	NA	NA
chr15	91524841	90981611	G	T	G	PRC1	B	missense_variant	A/E	0.00228938	0.996151	NA	NA	5.26	NA	NA
chr15	93588336	93045106	A	C	C	RGMA	A	missense_variant	D/E	0	NA	Protein_Binding|ChIP-seq|GATA6, Protein_Binding|ChIP-seq|RFX3	5	-0.091	NA	NA
chr16	103517	53517	A	C	C	POLR3K	A	missense_variant	S/A	0	NA	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm12892, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|SMARCC1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|MXI1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|E2F1	4	5.06	NA	NA
chr16	2059674	2009673	T	C	C	ZNF598	B	missense_variant	E/G	0.00732601	NA	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|CREBBP	4	3.3	NA	NA
chr16	2059955	2009954	A	G	A	NPW	B	missense_variant	E/G	0.0018315	NA	Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Monocd14, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Sknmc, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|SPI1, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|SPI1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|SP2, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|SIX5, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|TAF7, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZNF143, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	-0.39	NA	NA
chr16	2282256	2232255	G	A	G	E4F1	C	missense_variant	R/H	0.00595238	0.992686	Motifs|PWM|Isgf3g, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Urotsa	5	-6.01	NA	NA
chr16	3406387	3356387	C	G	C	OR2C1	B	missense_variant	C/W	0.00274725	0.997999	Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Be2c, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF	4	3.67	NA	NA
chr16	4861709	4811708	G	C	C	GLYR1	A	missense_variant	H/Q	0	NA	Motifs|Footprinting|Lyf-1, Motifs|Footprinting|Lyf-1, Motifs|Footprinting|Lyf-1, Motifs|Footprinting|Lyf-1, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Ikaros, Motifs|Footprinting|Zfx, Motifs|PWM|Lyf-1, Motifs|PWM|Ikaros, Motifs|PWM|Zfx	6	0.0979	NA	NA
chr16	8738499	8644642	G	A	G	METTL22	B	missense_variant	A/T	0.00869963	0.986995	Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Nb4, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX	4	-4.67	NA	NA
chr16	8739784	8645927	T	C	T	METTL22	B	missense_variant	I/T	0.00869963	NA	Motifs|PWM|HFH1(FOXQ1), Motifs|PWM|HFH8(FOXF1A), Motifs|PWM|FOXO4, Motifs|PWM|FOXO3A, Motifs|PWM|Foxq1, Motifs|PWM|Sox11, Motifs|PWM|Sox13, Motifs|PWM|Sox17, Motifs|PWM|Sox18, Motifs|PWM|Sox4, Motifs|PWM|Sox7, Chromatin_Structure|FAIRE|Nhek, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Phte	5	-0.0562	NA	NA
chr16	20753123	20741801	T	C	T	THUMPD1	B	missense_variant	D/G	0.00228938	NA	Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|FAIRE|Hepg2, Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Ag09309, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MXI1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HNF4G, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|TCF4, Protein_Binding|ChIP-seq|CEBPB, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|CEBPB, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|FOSL2, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|SIX5, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|FOSL1, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|BCLAF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|BCLAF1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NR3C1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|BRCA1, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|RFX5, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A	4	-6	NA	NA
chr16	22269867	22258546	A	G	A	EEF2K	B	missense_variant	Q/R	0.000915751	0.999846	Motifs|PWM|Gata3	6	3.78	NA	NA
chr16	27772901	27761580	G	A	G	KIAA0556	A	missense_variant	A/T	0	0.999384	Protein_Binding|ChIP-seq|IKZF1	5	4.56	NA	NA
chr16	29708350	29697029	A	G	A	QPRT	B	missense_variant	T/A	0.000915751	0.998845	Motifs|PWM|Nkx2-1, Motifs|PWM|Nkx2-6, Motifs|PWM|Nkx2-4, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|DNase-seq|Gm12892	5	-9.46	NA	NA
chr16	29791561	29780240	T	G	G	ZG16	A	missense_variant	L/V	0	0.999562	Motifs|PWM|Oct-1	6	4.65	NA	NA
chr16	30779716	30768395	A	G	G	RNF40	A	missense_variant	Q/R	0	NA	Chromatin_Structure|DNase-seq|Werirb1	5	5	NA	NA
chr16	56548501	56514589	C	T	C	BBS2	B	missense_variant	S/N	0.00412088	0.99446	NA	NA	5.54	METABOLIC	Abnormality of the ovary|Hypertension|Poor coordination|Delayed speech and language development|Brachydactyly syndrome|Diabetes mellitus|Syndactyly|Autosomal recessive inheritance|Congenital primary aphakia|Myopia|Gait imbalance|Dental crowding|Abnormality of the kidney|Retinal dystrophy|Postaxial hand polydactyly|Short foot|Hypogonadism|Macrocephaly|Left ventricular hypertrophy|High palate|Hirsutism|Aganglionic megacolon|Foot polydactyly|Nystagmus|Vaginal atresia|Neurological speech impairment|Asthma|Retinitis pigmentosa|Cataract|Nephrogenic diabetes insipidus|Ataxia|Intellectual disability|Global developmental delay|Glaucoma|Specific learning disability|Hepatic fibrosis|Hypodontia|Biliary tract abnormality|Micropenis|Hearing impairment|Decreased testicular size|Strabismus|Obesity|Radial deviation of finger|Astigmatism
chr16	57562804	57528892	G	A	G	CCDC102A	B	missense_variant	R/W	0.0018315	NA	Chromatin_Structure|DNase-seq|Hpaf	5	4.82	NA	NA
chr16	68025801	67991898	G	C	C	DPEP2	A	missense_variant	P/R	0	NA	NA	NA	3.82	NA	NA
chr16	82124776	82091171	G	T	G	HSD17B2	A	missense_variant	G/W	0	NA	NA	NA	-4.2	NA	NA
chr16	84217062	84183456	C	T	C	TAF1C	B	missense_variant	C/Y	0.000457875	0.99823	Motifs|Footprinting|NRSE, Motifs|PWM|NRSE, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Phte, Protein_Binding|ChIP-seq|IKZF1	2b	-4.59	NA	NA
chr16	84444349	84410743	A	C	C	ATP2C2	A	missense_variant	M/L	0	0.997846	Chromatin_Structure|DNase-seq|Nb4	5	3.89	PSYCH	NA
chr16	84493144	84459538	C	G	C	ATP2C2	B	missense_variant	A/G	0.0018315	NA	Motifs|PWM|Zbtb3, Motifs|PWM|Zbtb3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Phte, Protein_Binding|ChIP-seq|POLR2A	3a	-0.829	PSYCH	NA
chr16	84520396	84486790	A	G	A	TLDC1	B	missense_variant	C/R	0.00228938	0.998	Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Htr8	5	4.16	NA	NA
chr16	88502505	88436097	A	G	A	ZNF469	B	missense_variant	H/R	0.00320513	0.995175	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Helas3Ifna4h	5	4.05	NA	Congenital hip dislocation|Atypical scarring of skin|Abnormality of metabolism/homeostasis|Red hair|Myopia|Autosomal recessive inheritance|Mitral valve prolapse|Scoliosis|Epicanthus|Joint laxity|Dentinogenesis imperfecta|Blue sclerae|Spondylolisthesis|Macrocephaly|Keratoglobus|Palmoplantar cutis laxa|Keratoconus|Molluscoid pseudotumors|Hearing impairment|Disproportionate tall stature|Visual loss
chr16	88504868	88438460	A	G	G	ZNF469	A	missense_variant	T/A	0	0.99978	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|K562	5	-4.76	NA	Congenital hip dislocation|Atypical scarring of skin|Abnormality of metabolism/homeostasis|Red hair|Myopia|Autosomal recessive inheritance|Mitral valve prolapse|Scoliosis|Epicanthus|Joint laxity|Dentinogenesis imperfecta|Blue sclerae|Spondylolisthesis|Macrocephaly|Keratoglobus|Palmoplantar cutis laxa|Keratoconus|Molluscoid pseudotumors|Hearing impairment|Disproportionate tall stature|Visual loss
chr16	88872145	88805737	T	C	T	CDT1	B	missense_variant	C/R	0.000457875	0.999538	Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|T47d	5	3.83	NA	Delayed skeletal maturation|Emphysema|Low-set ears|Slender long bone|Genu recurvatum|Autosomal recessive inheritance|Patellar aplasia|Narrow mouth|Birth length <3rd percentile|Micrognathia|Breast hypoplasia|Hooked clavicles|Failure to thrive|Hypoplasia of the maxilla|Microtia|Microcephaly|Intrauterine growth retardation|Feeding difficulties|Thick lower lip vermilion|Cryptorchidism
chr17	3458072	3554778	T	C	T	TRPV3	B	missense_variant	I/V	0.00412088	0.998001	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19239	5	-0.188	NA	Sparse hair|Nail dysplasia|Flexion contracture|Parakeratosis|Hyperhidrosis|Opacification of the corneal stroma|Autosomal dominant inheritance|Pruritus|Subungual hyperkeratosis|Nail dystrophy|Alopecia universalis
chr17	3514028	3610734	G	C	C	SHPK	A	missense_variant	D/E	0	0.999769	Motifs|PWM|Ascl2, Motifs|Footprinting|, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST	2b	0.309	NA	NA
chr17	4693170	4789875	T	C	T	GLTPD2	B	missense_variant	V/A	0.00549451	0.991133	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Gm18507, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ELK4, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|YY1	4	-1.06	NA	NA
chr17	7417086	7513767	G	A	A	POLR2A	A	missense_variant	A/T	0	0.999923	Chromatin_Structure|DNase-seq|Hepatocytes	5	3.4	NA	NA
chr17	11523082	11619765	A	G	A	DNAH9	B	missense_variant	Q/R	0.00595238	0.991773	NA	NA	4	NA	NA
chr17	26684449	28357424	G	C	C	POLDIP2	B	missense_variant	P/A	0.00228938	NA	Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|Footprinting|AP-2, Motifs|PWM|AP-2, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Progfib, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|SPDEF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|GATA1	2b	3.86	NA	NA
chr17	36861983	38705730	T	C	C	MLLT6	A	missense_variant	V/A	0	NA	Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Caco2, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|SMARCA4	4	2.34	NA	NA
chr17	37898543	39742290	T	C	T	GRB7	B	missense_variant	C/R	0.0018315	0.997847	Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Htr8	5	1.11	NA	NA
chr17	38978536	40822284	A	C	A	KRT10	B	missense_variant	I/S	0.0018315	0.998308	Motifs|PWM|LUN-1	6	5.36	NA	Abnormality of the nail|Erythroderma|Abnormality of the hair|Abnormal blistering of the skin|Autosomal dominant inheritance|Palmoplantar hyperkeratosis|Erythema|Hyperkeratosis|Congenital ichthyosiform erythroderma
chr17	42030743	43953375	G	C	G	PYY	B	missense_variant	R/G	0.00137363	NA	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|IKZF1	4	2.43	METABOLIC|METABOLIC|METABOLIC	NA
chr17	44144993	NA	C	G	NA	KANSL1	B	missense_variant	R/P	0.000915751	0.998924	NA	NA	4.24	NEUROLOGICAL	Pulmonic stenosis|Widely spaced teeth|Dry skin|Bulbous nose|Bicuspid aortic valve|Autosomal dominant inheritance|Variable expressivity|Long face|Macrotia|Epicanthus|Narrow palm|Prominent metopic ridge|Broad chin|Abnormality of hair texture|Pyloric stenosis|Overfolded helix|Cryptorchidism|Cataract|Nasal speech|Cleft palate|Seizures|Intellectual disability|Pear-shaped nose|Global developmental delay|Poor speech|Vertebral fusion|High, narrow palate|Hip dislocation|Hypotrophy of the small hand muscles|Spondylolisthesis|Failure to thrive|Intrauterine growth retardation|Prominent nasal bridge|Ventricular septal defect|Hip dysplasia|Defect in the atrial septum|Narrow palate|Hypermetropia|Joint hypermobility|Small for gestational age|Cleft upper lip|Kyphosis|Delayed speech and language development|Feeding difficulties in infancy|Broad forehead|Conspicuously happy disposition|Vesicoureteral reflux|High forehead|Short stature|Open mouth|Arachnodactyly|Generalized hypotonia|Ventriculomegaly|Positional foot deformity|Pectus excavatum|Sporadic|High palate|Aortic dilatation|Ptosis|Blepharophimosis|Upslanted palpebral fissure|Everted lower lip vermilion|Contiguous gene syndrome|Scoliosis|Microcephaly|Hypotelorism|Hydronephrosis|Sacral dimple|Strabismus|Wide intermamillary distance|Prominent fingertip pads|Eczema
chr17	47297297	49219935	T	C	T	ABI3	B	missense_variant	F/S	0.00320513	0.992993	Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|8988t, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ELF1	4	2.61	NA	NA
chr17	56544280	58466919	T	G	G	HSF5	A	missense_variant	N/T	0	0.999769	NA	NA	5.81	NA	NA
chr17	59955426	61878065	T	G	T	INTS2	B	missense_variant	N/H	0.003663	0.992951	Chromatin_Structure|FAIRE|Mcf7, Protein_Binding|ChIP-seq|TRIM28, Protein_Binding|ChIP-seq|SETDB1, Protein_Binding|ChIP-seq|SETDB1	5	1.33	NA	NA
chr17	71232804	73236665	C	A	C	C17orf80	B	missense_variant	H/N	0.00686813	0.992157	Chromatin_Structure|FAIRE|UrotsaUt189, Protein_Binding|ChIP-seq|RFX3	5	0.997	NA	NA
chr17	78298938	80325138	A	G	G	RNF213	A	missense_variant	N/D	0	NA	Motifs|Footprinting|SRF, Motifs|PWM|SRF, Motifs|PWM|RORA_1	6	5.49	NA	NA
chr17	78972326	80998526	A	G	A	CHMP6	B	missense_variant	Q/R	0.00457875	NA	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap	5	-4.92	NA	NA
chr17	79409309	81442283	A	G	A	RP11-1055B8.7	B	missense_variant	T/A	0.000915751	NA	Motifs|Footprinting|ZNF219, Motifs|Footprinting|ZNF219, Motifs|PWM|ZNF219, Motifs|Footprinting|ZNF219, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Helas3, Protein_Binding|ChIP-seq|IKZF1	2b	-0.684	NA	NA
chr18	19014978	21435017	C	G	C	GREB1L	B	missense_variant	N/K	0.00228938	NA	Motifs|PWM|HEN1, Motifs|PWM|Egr, Motifs|PWM|KROX, Motifs|Footprinting|Sp1, Motifs|PWM|Sp1, Motifs|PWM|Zif268	6	5.65	NA	NA
chr18	21511089	23931125	A	G	G	LAMA3	A	missense_variant	S/G	0	NA	Motifs|PWM|COUPTF	6	-8.76	NA	Abnormality of the eye|Heterogeneous|Abnormality of the foot|Autosomal recessive inheritance|Junctional split|Recurrent loss of toenails and fingernails|Camptodactyly of finger|Oral mucusa blisters|Pyloric stenosis|Skin ulcer|Nail dystrophy|Palmar hyperhidrosis|Hypoplasia of dental enamel|Congenital localized absence of skin|Nail dysplasia|Weak cry|Plantar hyperkeratosis|Death in infancy|Hoarse cry|Amelogenesis imperfecta|Milia|Fragile nails|Hypodontia|Failure to thrive|Carious teeth|Infantile onset|Atrophic scars|Congenital onset
chr18	29055957	31475994	A	G	A	DSG3	B	missense_variant	T/A	0.00137363	0.998155	NA	NA	1.12	IMMUNE|NEUROLOGICAL	NA
chr18	29339910	31759947	G	T	G	SLC25A52	B	missense_variant	L/I	0.00274725	0.999923	NA	NA	1.22	NA	NA
chr18	29497573	31917610	A	G	A	TRAPPC8	B	missense_variant	L/S	0.000457875	0.999616	NA	NA	6.05	NA	NA
chr18	30804756	33224792	C	T	C	CCDC178	B	missense_variant	D/N	0.00457875	0.995232	Motifs|PWM|IRF	6	1.85	NA	NA
chr18	33779896	36199933	A	G	A	MOCOS	B	missense_variant	S/G	0.00549451	0.991235	Motifs|PWM|Elf3, Chromatin_Structure|DNase-seq|Hcm	5	-0.549	NA	NA
chr18	33780020	36200057	A	G	A	MOCOS	B	missense_variant	H/R	0.00732601	0.991235	Motifs|PWM|VDR=CAR=PXR, Motifs|PWM|COMP1, Chromatin_Structure|DNase-seq|Hasp	5	1.7	NA	NA
chr18	49867224	52340854	T	C	T	DCC	C	missense_variant	F/L	0.00915751	0.989159	Motifs|PWM|Nkx6-2, Motifs|PWM|Glis2, Motifs|PWM|Tcf7, Chromatin_Structure|DNase-seq|Hmec	5	4.83	NA	Neoplasm of the stomach|Transitional cell carcinoma of the bladder|Autosomal dominant inheritance|Incomplete penetrance|Renal cell carcinoma|Uterine leiomyosarcoma|Neoplasm|Hereditary nonpolyposis colorectal carcinoma|Bimanual synkinesia
chr18	53303101	55635870	C	G	G	TCF4	B	missense_variant	A/P	0.000915751	0.998774	Motifs|PWM|Oct-1, Motifs|PWM|POU3F2, Motifs|PWM|Oct-1, Motifs|PWM|STAT6, Chromatin_Structure|FAIRE|Medullo	6	0.675	NA	Pes planus|Widely spaced teeth|Intellectual disability, severe|Narrow forehead|Gait ataxia|Clubbing|Incoordination|Autosomal dominant inheritance|Single transverse palmar crease|Myopia|Short neck|Coarse facial features|Hypoplasia of the corpus callosum|Open mouth|Constipation|Short philtrum|Gastroesophageal reflux|Narrow foot|Cryptorchidism|Tapered finger|Absent speech|Hyperventilation|Muscular hypotonia|Seizures|Upslanted palpebral fissure|Aggressive behavior|Cupped ear|Motor delay|Microcephaly|Full cheeks|Micropenis|Wide nasal bridge|Deeply set eye|Strabismus|Intellectual disability, progressive|Astigmatism
chr18	55317676	57650444	C	T	C	ATP8B1	B	missense_variant	A/T	0.000457875	0.99877	Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|FAIRE|Medullo	5	4.34	OTHER|METABOLIC|IMMUNE|PSYCH	Abnormal liver function tests during pregnancy|Biliary cirrhosis|Intrahepatic cholestasis|increased serum bile acid concentration during pregnancy|Pancreatitis|Jaundice|Autosomal dominant inheritance|Intrahepatic cholestasis with episodic jaundice|Pruritus|Autosomal recessive inheritance|Diarrhea|Cirrhosis|Splenomegaly|Failure to thrive|Infantile onset|Fat malabsorption|Severe short stature|Hepatomegaly|Intermittent jaundice|Premature birth|Conjugated hyperbilirubinemia
chr18	72021717	74354482	T	C	T	C18orf63	B	missense_variant	L/P	0.000915751	NA	Motifs|PWM|Pbx-1, Chromatin_Structure|FAIRE|Medullo	6	-3.45	NA	NA
chr19	549678	549678	A	G	A	GZMM	B	missense_variant	R/G	0.00503663	0.992849	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gliobla	5	1.17	NA	NA
chr19	687142	687142	G	A	G	PRSS57	B	missense_variant	P/L	0.00274725	0.993763	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap	5	3.59	NA	NA
chr19	1094004	1094005	G	A	G	POLR2E	B	missense_variant	S/F	0.00228938	0.999923	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Helas3	5	3.64	NA	NA
chr19	2251817	2251818	T	C	T	AMH	B	missense_variant	V/A	0.00595238	0.982016	Motifs|Footprinting|Myogenin, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Th2, Protein_Binding|ChIP-seq|POLR2A	4	1.04	NA	Male infertility|Inguinal hernia|Autosomal recessive inheritance|Abnormality of circulating hormone level|Bilateral cryptorchidism
chr19	3150238	3150240	A	G	G	GNA15	A	missense_variant	Y/C	0	NA	Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Osteobl	5	3.83	NA	NA
chr19	5135392	5135381	A	G	G	KDM4B	A	missense_variant	K/E	0	NA	Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips	5	3.81	NA	NA
chr19	5214697	5214686	A	G	A	PTPRS	B	missense_variant	C/R	0.0018315	0.99877	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Medullo	5	0.736	NA	NA
chr19	8645786	8580902	A	C	A	ADAMTS10	B	missense_variant	H/Q	0.000457875	0.999846	Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|PWM|CTCF, Motifs|PWM|CTCF, Motifs|PWM|CTCF, Motifs|PWM|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Motifs|Footprinting|CTCF, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Monocd14, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Sknmc, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Th2, Chromatin_Structure|DNase-seq|Werirb1, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Nb4, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ELK4, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|EP300, Protein_Binding|ChIP-seq|TCF12, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GATA2, Protein_Binding|ChIP-seq|GATA2, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|TCF12, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCFL, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|SMC3, Protein_Binding|ChIP-seq|ZNF143, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|SMC3	2a	-2.4	DEVELOPMENTAL	Pulmonic stenosis|Patent ductus arteriosus|Depressed nasal bridge|Severe Myopia|Broad ribs|Broad phalanges of the hand|Brachydactyly syndrome|Autosomal recessive inheritance|Blindness|Broad skull|Broad metacarpals|Broad palm|Hypoplasia of the maxilla|Broad metatarsal|Spinal canal stenosis|Aortic valve stenosis|Misalignment of teeth|Lumbar hyperlordosis|Mitral regurgitation|Cataract|Glaucoma|Shallow orbits|Scoliosis|Intellectual disability, mild|Ectopia lentis|Shallow anterior chamber|Abnormality of dental morphology|Proportionate short stature|Ventricular septal defect|Brachycephaly|Joint stiffness|Narrow palate|Thin bony cortex
chr19	9087615	8976939	T	A	T	MUC16	B	missense_variant	K/N	0.00320513	0.999685	NA	NA	0.0103	NA	NA
chr19	15508362	15397551	G	C	C	AKAP8L	A	missense_variant	H/Q	0	NA	Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	5	1.43	NA	NA
chr19	16899838	16789027	A	T	A	NWD1	B	missense_variant	N/I	0.0018315	0.999923	NA	NA	5.65	NA	NA
chr19	17746947	17636138	A	G	A	UNC13A	A	missense_variant	L/P	0	NA	Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Helas3	5	3.52	NA	NA
chr19	19040312	18929503	G	C	G	HOMER3	B	missense_variant	S/R	0.000915751	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Sknshra, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	1.51	NA	NA
chr19	35991442	35500540	T	G	T	DMKN	B	missense_variant	D/A	0.00228938	0.994157	Motifs|PWM|Hic1, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|8988t	5	4.11	NA	NA
chr19	36243089	35752188	T	C	C	LIN37	A	missense_variant	V/A	0	NA	NA	NA	5.41	NA	NA
chr19	36355595	35864693	A	G	G	KIRREL2	A	missense_variant	K/E	0	NA	Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Hsmmt	5	2.25	NA	NA
chr19	36486445	35995543	G	C	G	SDHAF1	B	missense_variant	C/S	0.00457875	NA	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|A549, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|TFAP2A, Protein_Binding|ChIP-seq|TFAP2C, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|ZNF263	4	-0.338	NA	Flexion contracture|Dilated cardiomyopathy|Progressive leukoencephalopathy|Autosomal recessive inheritance|Short stature|Hypertrophic cardiomyopathy|Developmental regression|Ragged-red muscle fibers|Phenotypic variability|Exercise intolerance|Hyperreflexia|Babinski sign|Myoclonus|Ataxia|Seizures|Dystonia|Spasticity|Increased intramyocellular lipid droplets|Increased serum lactate|Leukoencephalopathy|Muscle weakness|Stress/infection-induced lactic acidosis|Infantile onset|Abnormal mitochondria in muscle tissue|Decreased activity of mitochondrial complex II|Neonatal hypotonia
chr19	38202516	37711615	A	C	A	ZNF607	C	missense_variant	S/A	0.00961538	0.999769	NA	NA	1.88	NA	NA
chr19	38377409	37886769	A	T	T	WDR87	A	missense_variant	V/E	0	NA	Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|FAIRE|Helas3	5	-1.51	NA	NA
chr19	40149297	39658657	T	A	A	LGALS16	A	missense_variant	L/H	0	NA	NA	NA	-2.41	NA	NA
chr19	41743861	41237956	A	G	G	AXL	A	missense_variant	N/D	0	NA	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|FAIRE|A549, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19238	5	4.11	NA	NA
chr19	43439793	42935641	G	A	A	PSG7	B	missense_variant	H/Y	0.000457875	NA	NA	NA	0.359	NA	NA
chr19	44047826	43543674	T	A	A	XRCC1	A	missense_variant	N/Y	0	0.999923	Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|FAIRE|A549, Chromatin_Structure|DNase-seq|Gm12892	5	5.05	CANCER|CANCER|CANCER|METABOLIC|OTHER|CANCER|CANCER|CANCER|CANCER|OTHER|CANCER|OTHER|CANCER|UNKNOWN|CANCER|OTHER|UNKNOWN|CANCER|CANCER|CANCER|CANCER|CANCER|CANCER|CANCER|PHARMACOGENOMIC|PHARMACOGENOMIC|CANCER|CANCER|OTHER|PHARMACOGENOMIC|PHARMACOGENOMIC|OTHER|PHARMACOGENOMIC|CANCER|OTHER|CANCER|CANCER|REPRODUCTION|IMMUNE|CANCER|CANCER|CANCER	NA
chr19	44377357	43873205	C	T	C	ZNF404	B	missense_variant	G/S	0.000457875	NA	Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|A549, Protein_Binding|ChIP-seq|ZNF274, Protein_Binding|ChIP-seq|ZNF274, Protein_Binding|ChIP-seq|TRIM28, Protein_Binding|ChIP-seq|ZNF274, Protein_Binding|ChIP-seq|SETDB1, Protein_Binding|ChIP-seq|SETDB1	4	2.01	NA	NA
chr19	45561063	45057805	A	G	G	CLASRP	A	missense_variant	K/E	0	0.999923	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|IKZF1	4	4.69	NA	NA
chr19	47177913	46674656	A	G	G	PRKD2	A	missense_variant	V/A	0	0.999077	Motifs|PWM|HIF1, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H9es, Protein_Binding|ChIP-seq|IKZF1	3a	4.79	CANCER	NA
chr19	50383591	49880334	A	G	G	TBC1D17	A	missense_variant	D/G	0	NA	Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|Footprinting|HNF4, Motifs|PWM|HNF4, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|Footprinting|PPARG::RXRA, Motifs|PWM|PPARG::RXRA, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|Footprinting|PPARgamma:RXRalpha, Motifs|PWM|PPARgamma:RXRalpha, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Protein_Binding|ChIP-seq|HNF4A	2a	4.17	NA	NA
chr19	51411636	50908380	G	T	T	KLK4	B	missense_variant	H/Q	0.00137363	0.997001	Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Ips	5	-4.43	NA	Autosomal recessive inheritance|Amelogenesis imperfecta
chr19	51452250	50948994	T	C	C	KLK5	A	missense_variant	N/D	0	0.999692	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh75	5	4.34	NA	NA
chr19	55671337	55159969	C	T	T	DNAAF3	A	missense_variant	D/N	0	NA	Motifs|PWM|COUPTF, Motifs|Footprinting|COUPTF, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892	5	2.26	NA	Absent inner and outer dynein arms|Nasal polyposis|Respiratory distress|Infertility|Immotile cilia|Recurrent respiratory infections|Autosomal recessive inheritance|Situs inversus totalis|Bronchiectasis|Sinusitis|Hearing impairment|Congenital onset|Otitis media
chr19	55699454	55188086	T	C	C	PTPRH	A	missense_variant	K/E	0	NA	Chromatin_Structure|DNase-seq|Gm12891	5	4.15	NA	NA
chr20	17605240	17624595	A	T	A	RRBP1	A	missense_variant	L/H	0	0.999923	Motifs|PWM|AP-4, Chromatin_Structure|DNase-seq|Lncap	5	1.65	NA	NA
chr20	17640009	17659364	A	C	C	RRBP1	A	missense_variant	S/A	0	NA	NA	NA	-0.897	NA	NA
chr20	18143117	18162473	T	G	T	CSRP2BP	B	missense_variant	V/G	0.00961538	0.980624	Motifs|PWM|RFX1	6	6.03	NA	NA
chr20	18296072	18315428	T	A	T	ZNF133	B	missense_variant	S/T	0.00503663	0.995464	Chromatin_Structure|DNase-seq|Caco2	5	-3.74	NA	NA
chr20	31022959	32435156	T	C	C	ASXL1	A	missense_variant	L/P	0	0.999923	Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Osteobl	5	-4.18	NA	Joint dislocation|Camptodactyly|Retrognathia|Autosomal dominant inheritance|Myopia|Long face|Autosomal recessive inheritance|Myelodysplasia|Hypoplasia of the corpus callosum|Prominent metopic ridge|Intellectual disability, profound|Gastroesophageal reflux|Delayed peripheral myelination|Deep palmar crease|Muscular hypotonia|Cleft palate|Seizures|Thick hair|Global developmental delay|Proptosis|Hypertelorism|Failure to thrive|Broad alveolar ridges|Intrauterine growth retardation|Intestinal malrotation|Ventricular septal defect|Wide nasal bridge|Low anterior hairline|Defect in the atrial septum|Deep plantar creases|Narrow palate|Agenesis of corpus callosum|Hyperechogenic pancreas|Prominent forehead|mesomelic/rhizomelic limb shortening|Ulnar deviation of the wrist|Cleft upper lip|Narrow forehead|Dandy-Walker malformation|Somatic mutation|Syndactyly|Vesicoureteral reflux|Overlapping toe|Micrognathia|Broad palm|Dislocated radial head|Nevus flammeus|Hirsutism|Short toe|Tapered finger|Facial hemangioma|Low-set ears|Upslanted palpebral fissure|Posteriorly rotated ears|Microcephaly|Supernumerary nipples|Feeding difficulties|Polyhydramnios|Heterotopia|Sacral dimple|Strabismus|Wide intermamillary distance|Trigonocephaly
chr20	33583331	34995528	A	G	G	MYH7B	A	missense_variant	K/E	0	NA	Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hmvecdblneo	5	5.38	NA	NA
chr20	48770159	50153622	T	C	T	TMEM189-UBE2V1	B	missense_variant	N/D	0.000915751	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Gm12878, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|SREBF1, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	0.707	NA	NA
chr20	56186884	57611828	T	C	T	ZBP1	B	missense_variant	Q/R	0.00641026	0.994003	Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|Footprinting|Nkx3-2, Motifs|PWM|Nkx3-2, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Ips	5	-2.03	NA	NA
chr21	15516976	14144655	T	A	A	LIPI	A	missense_variant	R/S	0	NA	NA	NA	-0.291	NA	NA
chr21	15974409	14602088	T	C	C	AF165138.7	A	missense_variant	N/D	0	NA	Motifs|PWM|OCT-x, Motifs|PWM|Oct-1	6	3.2	NA	NA
chr21	30250555	28878233	T	C	C	N6AMT1	A	missense_variant	K/R	0	NA	Motifs|PWM|Obox6, Chromatin_Structure|FAIRE|Huvec	6	1.23	NA	NA
chr21	30250615	28878293	T	C	C	N6AMT1	A	missense_variant	K/R	0	NA	NA	NA	4.26	NA	NA
chr21	30257568	28885246	T	C	C	N6AMT1	A	missense_variant	N/D	0	NA	Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|FAIRE|Gliobla, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Nhdfneo, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|STAT2, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|STAT3, Protein_Binding|ChIP-seq|FOSL1, Protein_Binding|ChIP-seq|TAF7, Protein_Binding|ChIP-seq|STAT3, Protein_Binding|ChIP-seq|STAT3, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|SMARCA4, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|STAT2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|SETDB1, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|NR4A1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NANOG, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|BCLAF1, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|GTF2F1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SP2, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|IRF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|THAP1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ATF3, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|MXI1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SMARCB1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|SPI1, Protein_Binding|ChIP-seq|SETDB1, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HDAC2, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	5.18	NA	NA
chr21	34925142	33552836	C	T	C	SON	A	missense_variant	S/L	0	0.999846	Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|T47d, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	5.12	NA	NA
chr21	35467645	34095346	A	G	G	SLC5A3	A	missense_variant	T/A	0	NA	NA	NA	6.11	CARDIOVASCULAR	NA
chr21	35469193	34096894	C	A	A	SLC5A3	A	missense_variant	Q/K	0	NA	Motifs|PWM|mTERF, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|REST	5	3.59	CARDIOVASCULAR	NA
chr21	38444863	37072563	C	T	T	PIGP	A	missense_variant	A/T	0	NA	Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Sknmc, Chromatin_Structure|DNase-seq|Rptec, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12865, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hepg2, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TFAP2C, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2	4	0.406	NA	NA
chr21	40969826	39597899	G	C	G	C21orf88	B	missense_variant	C/W	0.000457875	0.998905	NA	NA	0.0893	NA	NA
chr21	43221483	41801323	A	G	A	PRDM15	B	missense_variant	S/P	0.00228938	0.994925	Motifs|PWM|CAC-bindingprotein	6	3.3	OTHER	NA
chr21	46314907	44894992	T	A	A	ITGB2	A	missense_variant	Q/H	0	0.999846	Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|Footprinting|Brn-2, Motifs|PWM|Brn-2, Motifs|PWM|Pou6f1, Motifs|PWM|Pou6f1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|Footprinting|IPF1, Motifs|PWM|IPF1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|Footprinting|Nkx6-1, Motifs|PWM|Nkx6-1, Chromatin_Structure|FAIRE|Helas3	6	1.13	CARDIOVASCULAR|CARDIOVASCULAR|OTHER	Leukocytosis|Recurrent staphylococcal infections|Abnormality of metabolism/homeostasis|Recurrent gram-negative bacterial infections|Autosomal recessive inheritance|Rectal abscess|Periodontitis|Gingivitis
chr22	20779947	20425657	G	C	C	SCARF2	C	missense_variant	D/E	0.00778388	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|UrotsaUt189	5	3.01	NA	Talipes equinovarus|Thin ribs|Depressed nasal bridge|Malar flattening|Glenoid fossa hypoplasia|Slender long bone|Elbow flexion contracture|Prominent ears|Autosomal recessive inheritance|Femoral bowing|Dental crowding|Long hallux|Hooked clavicles|Arachnodactyly|Camptodactyly (feet)|Hypoplasia of the maxilla|Knee flexion contracture|Dislocated radial head|Narrow nose|Stridor|Pectus excavatum|High palate|Narrow foot|Joint contracture of the hand|Hallux valgus|Long metacarpals|Cleft palate|Blepharophimosis|Everted lower lip vermilion|Single umbilical artery|Slender metacarpals|Laryngomalacia|Abnormality of the eyebrow|Distal ulnar hypoplasia|Underdeveloped nasal alae|Ulnar bowing
chr22	24717850	24321882	A	G	G	SPECC1L	A	missense_variant	D/G	0	NA	NA	NA	4.72	NA	Cleft upper lip|Cleft palate|Facial cleft|Autosomal recessive inheritance|Deep palmar crease|Coloboma
chr22	29727886	29331897	T	C	C	AP1B1	A	missense_variant	T/A	0	0.999923	Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|Footprinting|AP-4, Motifs|PWM|AP-4, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Th2	5	3.57	CARDIOVASCULAR	NA
chr22	36623731	36227685	T	C	C	APOL2	A	missense_variant	I/V	0	NA	Motifs|PWM|Egr1, Motifs|PWM|Zif268, Chromatin_Structure|DNase-seq|Gm12892, Protein_Binding|ChIP-seq|POLR2A	3a	-1.47	NA	NA
chr22	39497509	39101504	A	G	G	APOBEC3H	A	missense_variant,splice_region_variant	N/D	0	NA	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Helas3	5	2.28	NA	NA
chr22	45789642	45393762	A	C	C	SMC1B	A	missense_variant	F/V	0	NA	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hmec	5	5.01	NA	NA
chr22	45923827	45527947	A	G	A	FBLN1	B	missense_variant	Q/R	0.000915751	0.998539	Motifs|PWM|Pit-1, Motifs|PWM|Bbx, Protein_Binding|ChIP-seq|CTCF	5	5.21	NA	Carpal synostosis|Synostosis involving metatarsal bones|Metacarpal synostosis|Polydactyly|Autosomal dominant inheritance|Tarsal synostosis|Toe syndactyly
chr22	46677607	46281710	T	C	T	TTC38	B	missense_variant	F/L	0.000915751	0.999762	Motifs|PWM|Zfp691, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Helas3	5	3.65	NA	NA
chr22	50657010	50218581	C	G	C	TUBGCP6	B	missense_variant	V/L	0.0018315	0.994695	Motifs|PWM|CTCF, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm19240	5	1.61	NA	Abnormality of skin pigmentation|Cataract|Microcephaly|Chorioretinopathy|Intellectual disability|Autosomal recessive inheritance|Optic disc pallor|Abnormal retinal pigmentation|Nystagmus|Microphthalmos
chrX	17819377	17801257	T	C	T	RAI2	B	missense_variant	M/V	0.000602773	0.999527	Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Nhdfad, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hmec	5	5.29	NA	NA
chrX	30872602	30854485	A	G	G	TAB3	B	missense_variant	W/R	0	0.999811	NA	NA	3.8	NA	NA
chrX	47057647	47198248	A	G	A	UBA1	B	missense_variant	I/V	0.0066305	NA	NA	NA	-3.06	NA	Ptosis|Myopathy|Abnormality of metabolism/homeostasis|Respiratory insufficiency due to muscle weakness|Tongue fasciculations|Multiple joint contractures|Scoliosis|Micrognathia|Hypospadias|Arthrogryposis multiplex congenita|Severe muscular hypotonia|Micropenis|Inguinal hernia|X-linked recessive inheritance|Degeneration of anterior horn cells|Myopathic facies|X-linked inheritance|Decreased fetal movement|Cryptorchidism|Areflexia
chrX	48460314	48601926	A	G	G	WDR13	B	missense_variant	H/R	0	0.999811	Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|DNase-seq|Hsmmt	5	4.54	NA	NA
chrX	49021256	49164918	A	G	G	MAGIX	B	missense_variant	H/R	0	0.998799	Motifs|PWM|Zfp691, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|SMARCC1	3a	-1.36	NA	NA
chrX	49021537	49165199	G	C	C	MAGIX	B	missense_variant	V/L	0	0.9989	Protein_Binding|ChIP-seq|GATA1	5	4.17	NA	NA
chrX	49022700	49166361	T	C	C	MAGIX	B	missense_variant	F/L	0	NA	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Caco2, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F4	4	0.554	NA	NA
chrX	53652852	53625891	T	G	T	HUWE1	B	missense_variant	T/P	0	NA	Chromatin_Structure|FAIRE|Astrocy, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|FAIRE|A549, Chromatin_Structure|FAIRE|Medullo	5	0.304	NA	Macrocephaly|Intellectual disability|Macroorchidism|X-linked inheritance|Limited elbow extension|Tapered finger|Holoprosencephaly
chrX	54209387	54182954	A	G	G	FAM120C	B	missense_variant	I/T	0	NA	Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Hepatocytes, Protein_Binding|ChIP-seq|STAT1, Protein_Binding|ChIP-seq|CTCF	4	2.53	NA	NA
chrX	77298857	78043359	G	A	A	ATP7A	B	missense_variant	E/K	0	NA	NA	NA	5.21	NA	Narrow face|Pes planus|Pes cavus|Hiatus hernia|Long face|Bladder carcinoma|Hypothermia|Genu valgum|Unsteady gait|Bladder diverticula|Distal muscle weakness|Osteoporosis|Distal amyotrophy|Death in childhood|Pelvic exostoses|Spinal muscular atrophy|Capitate-hamate fusion|Abnormality of the face|Chronic diarrhea|Platyspondyly|Metaphyseal spurs|Slow progression|Convex nasal ridge|Seizures|Intellectual disability|Ureteral obstruction|Broad clavicles|Narrow chest|Joint laxity|Intrauterine growth retardation|Pectus carinatum|Hyporeflexia|EMG: neuropathic changes|Orthostatic hypotension|Hypertonia|Coarse hair|Limited elbow extension|Long philtrum|Redundant skin|Sparse hair|Coxa valga|Kyphosis|Broad ribs|Long neck|Hypopigmentation of the skin|High forehead|Short stature|Persistent open anterior fontanelle|Short clavicles|Limited knee extension|Pectus excavatum|Carotid artery tortuosity|High palate|X-linked recessive inheritance|Distal sensory impairment|Juvenile onset|Abnormality of the peripheral nervous system|Metaphyseal widening|Wormian bones|Short humerus|Bruising susceptibility|Soft skin|Intracranial hemorrhage|Microcephaly|Hyperextensible skin|Cutis laxa|Brachycephaly|Hydronephrosis
chrX	100547933	101292945	A	G	A	TAF7L	B	missense_variant	L/P	0.00602773	0.991669	Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Myometr	5	-2.79	NA	NA
chrX	100748078	101493091	A	G	G	ARMCX4	B	missense_variant	D/G	0	NA	Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Mcf7	5	-0.227	NA	NA
chrX	101138792	101883820	T	C	C	ZMAT1	B	missense_variant	Q/R	0	NA	Motifs|PWM|Hoxc9, Chromatin_Structure|FAIRE|A549	6	0.612	NA	NA
chrX	129147079	130013103	T	C	C	BCORL1	B	missense_variant	F/L	0	NA	Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891	5	3.35	NA	NA
chrX	154456747	155228465	A	G	G	VBP1	B	missense_variant	M/V	0	NA	NA	NA	5.05	NA	NA
chr1	2357475	2426036	T	C	T	PLCH2	A	splice_region_variant,5_prime_UTR_variant	-	0	NA	Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Osteobl	5	-2.04	NA	NA
chr1	20512652	20186159	A	C	A	UBXN10	B	splice_region_variant,intron_variant	-	0.00869963	NA	Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Sknshra, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|USF2, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GATA2, Protein_Binding|ChIP-seq|CREBBP, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|REST, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|THAP1, Protein_Binding|ChIP-seq|FOXA1, Protein_Binding|ChIP-seq|CCNT2, Protein_Binding|ChIP-seq|HMGN3, Protein_Binding|ChIP-seq|MXI1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A	4	-1.77	NA	NA
chr1	38464639	37998967	C	G	C	FHL3	B	splice_region_variant,intron_variant	-	0.00228938	0.998232	Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|Footprinting|ARP-1(COUP-TF2), Motifs|PWM|ARP-1(COUP-TF2), Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|FAIRE|Gm12891	6	0.674	NA	NA
chr1	45805566	45339894	G	C	G	MUTYH	B	splice_region_variant,intron_variant	-	0.00641026	NA	Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|Footprinting|RREB1, Motifs|PWM|RREB1, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Urotsa, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|TRIM28, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MYC, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZBTB33, Protein_Binding|ChIP-seq|ZBTB33, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|CHD2, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|E2F6, Protein_Binding|ChIP-seq|BRCA1, Protein_Binding|ChIP-seq|ZBTB33, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCFL, Protein_Binding|ChIP-seq|NRF1, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A	2b	-3.33	CANCER|CANCER|CANCER|CANCER	Neoplasm of the skin|Adenomatous colonic polyposis|Somatic mutation|Autosomal dominant inheritance|Colon cancer|Autosomal recessive inheritance|Stomach cancer
chr1	77627096	77161411	G	A	G	PIGK	B	splice_region_variant,intron_variant	-	0.00915751	0.987613	NA	NA	-0.381	NA	NA
chr1	83562661	83096978	A	G	A	RP4-601K24.1	B	splice_donor_variant,nc_transcript_variant	-	0.00915751	NA	NA	NA	1.5	NA	NA
chr1	145471549	145963541	A	C	G	ANKRD34A	B	splice_region_variant,intron_variant	-	0.000457875	NA	Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|Staf, Motifs|Footprinting|Staf, Motifs|Footprinting|Staf, Motifs|Footprinting|Staf, Motifs|Footprinting|znf143, Motifs|Footprinting|Staf, Motifs|Footprinting|znf143, Motifs|PWM|Staf, Motifs|PWM|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|znf143, Motifs|Footprinting|Staf, Motifs|Footprinting|Staf, Motifs|Footprinting|Staf, Motifs|Footprinting|znf143, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Hvmf, Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hcm, Chromatin_Structure|DNase-seq|Ag04449, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Ag10803, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|DNase-seq|Hpf, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Bj, Chromatin_Structure|DNase-seq|Hconf, Chromatin_Structure|DNase-seq|Hffmyc, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|Hnpce, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Ag09309, Chromatin_Structure|DNase-seq|Hcfaa, Chromatin_Structure|DNase-seq|Hre, Chromatin_Structure|DNase-seq|Nha, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hae, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|DNase-seq|Hff, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hcpe, Chromatin_Structure|DNase-seq|Hbmec, Chromatin_Structure|DNase-seq|Skmc, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hpdlf, Chromatin_Structure|DNase-seq|Hgf, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Aoaf, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|GATA1	2b	4.08	NA	NA
chr1	222798106	222624764	G	A	G	MIA3	B	splice_region_variant,intron_variant	-	0.00137363	0.996119	Motifs|PWM|Sox12	6	1.52	CARDIOVASCULAR|CARDIOVASCULAR	NA
chr2	32712875	32487808	A	C	C	BIRC6	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|Sox18, Chromatin_Structure|DNase-seq|Hmveclly	5	3.6	NA	NA
chr2	180835589	179970862	A	G	A	CWC22	B	splice_region_variant,intron_variant	-	0.00228938	0.995663	Motifs|PWM|Sp1	6	-0.00658	NA	NA
chr2	215698828	214834104	C	G	C	AC072062.1	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.00137363	NA	NA	NA	-4.52	NA	NA
chr3	44869026	44827534	A	T	A	KIF15	B	splice_region_variant,intron_variant	-	0.00274725	0.995002	Protein_Binding|ChIP-seq|SETDB1	5	0.544	NA	NA
chr3	48476431	48435021	C	G	G	CCDC51	B	splice_region_variant,intron_variant	-	0.00961538	0.990448	Protein_Binding|ChIP-seq|RFX3	5	2.71	NA	NA
chr3	51273773	51236342	T	C	T	DOCK3	B	splice_region_variant,intron_variant	-	0.00595238	0.991306	Motifs|PWM|HNF3beta, Motifs|PWM|FOXJ2, Motifs|PWM|FOXO4, Motifs|PWM|FOXO3, Motifs|PWM|Foxl1	6	5.37	PSYCH	NA
chr3	108464273	108745426	G	C	G	RETNLB	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0.00412088	NA	NA	NA	-0.0664	NA	NA
chr3	111659377	111940530	T	C	T	PHLDB2	B	splice_region_variant,intron_variant	-	0.00641026	0.990311	Motifs|PWM|ATF4, Motifs|PWM|Tcfap2a	6	0.399	NEUROLOGICAL	NA
chr3	113619872	113901025	C	T	C	GRAMD1C	B	splice_region_variant,intron_variant	-	0.00824176	0.993157	NA	NA	5.97	NA	NA
chr3	148986874	149269087	T	G	T	CPHL1P	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.003663	NA	NA	NA	-2.75	NA	NA
chr4	118281965	117360809	A	G	A	AC113617.1	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.000915751	NA	Motifs|PWM|HTF, Motifs|PWM|Cdx	6	0.521	NA	NA
chr5	53697699	54401869	C	T	C	LINC01033	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0.00412088	NA	Motifs|Footprinting|TBX15, Motifs|PWM|TBX15, Motifs|Footprinting|AFP1, Motifs|PWM|AFP1, Motifs|PWM|Eomes, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|H9es	5	-2.6	NA	NA
chr5	131719999	132384307	A	G	G	SLC22A5	A	splice_region_variant,intron_variant	-	0	NA	NA	NA	3.56	IMMUNE|IMMUNE|IMMUNE|IMMUNE|HEMATOLOGICAL|HEMATOLOGICAL	Myopathy|Lethargy|Cardiomegaly|Muscular hypotonia|Autosomal recessive inheritance|Hepatic steatosis|Congestive heart failure|Somnolence|Encephalopathy|Coma|Endocardial fibroelastosis|Hypertrophic cardiomyopathy|Vomiting|Hyperammonemia|Failure to thrive|Confusion|Muscle weakness|Recurrent hypoglycemia|Impaired gluconeogenesis|Elevated hepatic transaminases|Hepatomegaly
chr5	142593652	143214087	C	T	C	ARHGAP26	B	splice_region_variant,synonymous_variant	N	0.00686813	0.996231	Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|Gm12878, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hac, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Hmveclbl, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|FAIRE|Huvec, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm19240, Protein_Binding|ChIP-seq|BATF, Protein_Binding|ChIP-seq|BCL11A, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|RXRA, Protein_Binding|ChIP-seq|SP1, Protein_Binding|ChIP-seq|SRF, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|PAX5, Protein_Binding|ChIP-seq|FOSL1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|TBP, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|MEF2C, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|EBF1, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|FOS, Protein_Binding|ChIP-seq|JUND, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|NFKB1, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|IRF4, Protein_Binding|ChIP-seq|NFKB1	4	-1.73	NA	Somatic mutation|Juvenile myelomonocytic leukemia
chr6	33147589	33179812	T	G	T	COL11A2	A	splice_region_variant,intron_variant	-	0	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Werirb1	5	2.43	NA	Abnormality of the eye|Mixed hearing impairment|Depressed nasal bridge|Malar flattening|Bulbous nose|Flexion contracture|Pierre-Robin sequence|Autosomal dominant inheritance|Large tarsal bones|Autosomal recessive inheritance|Premature osteoarthritis|Short stature|Micrognathia|Sensorineural hearing impairment|Hypoplastic ilia|Dumbbell-shaped long bone|Anteverted nares|Enlarged epiphyses|Epiphyseal dysplasia|Platyspondyly (childhood)|Aplasia/Hypoplasia of the capital femoral epiphysis|Coronal cleft vertebrae|Bell-shaped thorax|Lumbar hyperlordosis|Short palm|Platyspondyly|Short phalanx of finger|Rhizomelia|Short nose|Metaphyseal widening|Cleft palate|Abnormality of pelvic girdle bone morphology|Midface retrusion|Global developmental delay|Thoracic hypoplasia|Prominent interphalangeal joints|Arthralgia|Proptosis|Flared metaphyses|Hypertelorism|Protuberant abdomen|Recurrent pneumonia|Short ribs|Enlarged joints|Short long bones|Hypoplastic ischia|Short metacarpal|Hypoplastic pubic bones
chr6	74189574	73479851	G	A	A	MTO1	A	splice_region_variant,intron_variant	-	0	NA	Protein_Binding|ChIP-seq|SPI1	5	4.28	NA	Metabolic acidosis|Hypoglycemia|Increased serum lactate|Lactic acidosis|Optic atrophy|Autosomal recessive inheritance|Small for gestational age|Arrhythmia|Hypertrophic cardiomyopathy|Congenital onset
chr7	38813711	38774111	C	T	C	VPS41	B	splice_region_variant,intron_variant	-	0.00412088	0.994541	NA	NA	4.77	NEUROLOGICAL	NA
chr7	72483668	73013139	A	G	G	RP11-313P13.3	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.00320513	NA	NA	NA	0	NA	NA
chr7	100391644	100794022	T	C	T	ZAN	B	splice_region_variant,intron_variant	-	0.00641026	0.991311	Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|Footprinting|Tcfcp2l1, Motifs|PWM|Tcfcp2l1 , Motifs|Footprinting|Tcfcp2l1, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Mcf7, Protein_Binding|ChIP-seq|CTCF	2b	-9.34	IMMUNE	NA
chr7	103138517	103498070	C	G	C	RELN	B	splice_region_variant,intron_variant	-	0.00503663	0.990927	Motifs|PWM|Brachyury	6	0.293	PSYCH|PSYCH|OTHER|IMMUNE|PSYCH|CHEMDEPENDENCY	Thick cerebral cortex|Microcephaly|Prominent nasal bridge|Sloping forehead|Autosomal recessive inheritance|Type I lissencephaly
chr7	135095270	135410520	A	G	G	CNOT4	A	splice_region_variant,intron_variant	-	0	0.99933	Chromatin_Structure|DNase-seq|Hrce, Chromatin_Structure|DNase-seq|Hre	5	1.53	NA	NA
chr8	20813346	20955835	A	G	A	RP11-369E15.4	B	splice_donor_variant,nc_transcript_variant	-	0.00320513	NA	Motifs|PWM|Hand1:E47	6	-3.99	NA	NA
chr8	25181356	25323840	C	T	C	DOCK5	C	splice_region_variant,intron_variant	-	0.00503663	0.994464	NA	NA	4.04	NA	NA
chr8	31077901	31220385	A	G	A	RP11-363L24.2	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0.00503663	NA	NA	NA	0.118	PSYCH|CANCER	NA
chr8	59184565	58272006	C	G	C	RP11-716D16.1	A	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0	NA	NA	NA	-5.62	NA	NA
chr8	100975002	99962774	A	G	A	RGS22	B	splice_region_variant,intron_variant	-	0.00274725	NA	Motifs|PWM|Six4	6	3.48	NA	NA
chr8	144654586	NA	NA	NA	NA	MROH6	B	splice_region_variant,intron_variant	-	0.00869963	0.993229	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hmec	5	2.57	NA	NA
chr9	28475930	28475932	T	C	T	LINGO2	B	splice_region_variant,intron_variant	-	0.000915751	NA	NA	NA	-5.82	NA	NA
chr9	72373624	69758708	A	G	G	PTAR1	A	splice_region_variant,intron_variant	-	0	NA	NA	NA	3.88	NA	NA
chr9	82187750	79572835	A	G	A	TLE4	C	splice_region_variant,5_prime_UTR_variant	-	0.00869963	0.980111	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Aosmc, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Melano, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Nhlf, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hasp, Protein_Binding|ChIP-seq|POLR2A	4	3.47	IMMUNE	NA
chr9	131479023	128716744	T	C	T	PKN3	B	splice_region_variant,intron_variant	-	0.00915751	0.985161	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Protein_Binding|ChIP-seq|POLR2A	4	5.26	NA	NA
chr9	131898880	129136601	A	G	A	PPP2R4	B	splice_region_variant,intron_variant	-	0.00228938	0.996002	NA	NA	0.969	NA	NA
chr9	133270740	130395353	T	C	C	HMCN2	A	splice_region_variant,intron_variant,nc_transcript_variant	-	0	NA	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3	5	-4.61	NA	NA
chr9	133986980	131111593	T	G	G	AIF1L	A	splice_region_variant,intron_variant	-	0	NA	NA	NA	-2.32	NA	NA
chr9	140139757	137245305	G	A	G	FAM166A	B	splice_donor_variant	-	0.003663	0.991081	Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|DNase-seq|Gm19240, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF	4	4.09	NA	NA
chr10	48359447	47379915	C	G	G	ZNF488	B	splice_region_variant,5_prime_UTR_variant	-	0.00824176	NA	Chromatin_Structure|FAIRE|Nhbe, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|T47d	5	-2.97	NA	NA
chr10	86185654	84425898	T	G	G	CCSER2	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|ATF5, Motifs|PWM|EWSR1-FLI1, Motifs|PWM|EWSR1-FLI1, Motifs|PWM|EWSR1-FLI1, Chromatin_Structure|DNase-seq|Huvec	5	4.96	NA	NA
chr10	99946328	98186571	C	T	C	R3HCC1L	B	splice_region_variant,intron_variant	-	0.00412088	NA	Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Jurkat, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmmt	5	0.997	NA	NA
chr10	104476094	102716337	C	T	C	SFXN2	B	splice_region_variant,intron_variant	-	0.00274725	NA	Chromatin_Structure|DNase-seq|Hpaf, Chromatin_Structure|DNase-seq|Hcf, Chromatin_Structure|DNase-seq|Aoaf, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Hah, Chromatin_Structure|DNase-seq|Hasp	5	0.0973	NEUROLOGICAL	NA
chr10	124271589	122512073	G	A	G	HTRA1	B	splice_region_variant,intron_variant	-	0.00137363	0.999385	NA	NA	-4.19	VISION|VISION|VISION	Pseudobulbar signs|Ataxia|Abnormality of extrapyramidal motor function|Autosomal recessive inheritance|Dysarthria|Spasticity|Arteriosclerosis of small cerebral arteries|Gait disturbance|Diffuse demyelination of the cerebral white matter|Alopecia|Low back pain|Urinary incontinence|Progressive encephalopathy|Hyperreflexia|Babinski sign|Dementia|Diffuse white matter abnormalities|Rigidity
chr11	726178	726178	G	C	C	EPS8L2	A	splice_region_variant,intron_variant	-	0	NA	Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|FAIRE|Gm12891, Protein_Binding|ChIP-seq|EGR1, Protein_Binding|ChIP-seq|EGR1	4	-4.12	NA	NA
chr11	49859661	49838109	A	G	A	TRIM51FP	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0.00457875	NA	NA	NA	0.109	NA	NA
chr11	72532708	72821663	C	T	C	ATG16L2	B	splice_region_variant,intron_variant	-	0.00412088	0.996689	Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Th2, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm06990, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|8988t, Protein_Binding|ChIP-seq|IKZF1	4	0.442	NA	NA
chr11	104761100	104890373	T	C	C	CASP12	B	splice_donor_variant	-	0.00274725	NA	NA	NA	3.02	NA	NA
chr11	104776172	104905445	G	T	G	RP11-693N9.2	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0.00824176	NA	Motifs|PWM|NUR77, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Cmk, Chromatin_Structure|DNase-seq|Hrgec, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Hct116, Chromatin_Structure|DNase-seq|H7es, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Hmvecdblad, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdblneo, Chromatin_Structure|DNase-seq|Hmveclbl, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|GATA6	3a	1.65	NA	NA
chr12	18499777	18346843	C	G	G	PIK3C2G	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|Nkx2-4	6	-0.195	NA	NA
chr12	41946453	41552651	T	C	T	PDZRN4	B	splice_region_variant,intron_variant	-	0.00503663	0.997693	Motifs|PWM|Foxa2, Motifs|PWM|Nkx6-1	6	4.84	IMMUNE|OTHER	NA
chr12	44338153	43944350	T	A	T	TMEM117	B	splice_region_variant,intron_variant	-	0.00915751	0.982777	Motifs|PWM|Sox12	6	-8.02	NA	NA
chr12	54799450	54405666	A	G	G	ITGA5	B	splice_region_variant,synonymous_variant	D	0.00228938	0.994849	Chromatin_Structure|DNase-seq|Werirb1	5	-6.28	NA	NA
chr12	74165368	73771588	T	C	T	RP11-295G12.1	C	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.00686813	NA	NA	NA	0.109	NA	NA
chr12	122658383	122173836	A	G	A	IL31	B	splice_region_variant,intron_variant	-	0.000915751	0.999462	NA	NA	-1.07	NA	NA
chr13	99093094	98440840	T	C	C	FARP1	A	splice_region_variant,intron_variant	-	0	0.998461	Motifs|PWM|c-Myc:Max, Chromatin_Structure|DNase-seq|Saec, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Hre	5	1.48	NA	NA
chr14	22653518	22185622	C	G	G	TRAV32	A	splice_region_variant,intron_variant,nc_transcript_variant	-	0	NA	NA	NA	-2.48	NA	NA
chr14	51206021	50739303	A	G	A	NIN	B	splice_region_variant,intron_variant	-	0.00824176	0.991312	Motifs|PWM|C/EBPalpha, Motifs|Footprinting|C/EBPalpha, Motifs|PWM|Cdx2, Motifs|PWM|Hoxa10, Motifs|PWM|Hoxb13, Motifs|PWM|Hoxb9, Chromatin_Structure|DNase-seq|Panc1, Chromatin_Structure|FAIRE|Mcf7	5	1.67	NEUROLOGICAL	Delayed skeletal maturation|Intellectual disability, severe|Abnormality of the carpal bones|Primary amenorrhea|Seizures|Autosomal recessive inheritance|Severe global developmental delay|Microtia|Intrauterine growth retardation|Microcephaly|Madelung deformity|Hip dysplasia|Central hypothyroidism|Lumbar scoliosis|Severe short stature|Hypotelorism|Prominent nose
chr14	75412908	74946205	A	G	A	PGF	B	splice_region_variant,intron_variant	-	0.000915751	0.999692	Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Sknshra, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Medullo, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	4	-6.37	NA	NA
chr14	75517731	75051028	C	G	C	MLH3	B	splice_region_variant,intron_variant	-	0.000457875	NA	Motifs|Footprinting|, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Be2c, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Nhek, Chromatin_Structure|DNase-seq|Hee, Chromatin_Structure|DNase-seq|Wi38, Chromatin_Structure|DNase-seq|Hrpe, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Hmvecdlyad, Chromatin_Structure|DNase-seq|Hmvecdneo, Chromatin_Structure|DNase-seq|Hmveclly, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ag09319, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Gm12892, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Hmvecdlyneo, Chromatin_Structure|DNase-seq|Hmec, Protein_Binding|ChIP-seq|E2F4, Protein_Binding|ChIP-seq|E2F1	4	1.32	OTHER|CANCER	Neoplasm of the stomach|Transitional cell carcinoma of the bladder|Autosomal dominant inheritance|Renal cell carcinoma|Uterine leiomyosarcoma|Hereditary nonpolyposis colorectal carcinoma|Endometrial carcinoma
chr14	76232398	75766055	T	C	T	TTLL5	B	splice_region_variant,intron_variant	-	0.0018315	0.995848	NA	NA	3.64	NA	NA
chr15	38228216	37936015	C	T	C	TMCO5A	B	splice_region_variant,intron_variant	-	0.003663	NA	NA	NA	0.439	NA	NA
chr15	41483636	41191438	C	T	C	EXD1	B	splice_region_variant,intron_variant	-	0.00228938	0.999077	Motifs|PWM|AIRE, Chromatin_Structure|FAIRE|Helas3	6	4.11	NA	NA
chr15	42764519	42472321	G	C	G	ZNF106	B	splice_region_variant,5_prime_UTR_variant	-	0.00732601	NA	Motifs|PWM|REST, Chromatin_Structure|DNase-seq|Hipe, Chromatin_Structure|DNase-seq|Ag04450, Chromatin_Structure|DNase-seq|Stellate	5	4.96	NA	NA
chr15	57918090	57625892	A	G	G	GCOM1	A	splice_region_variant,synonymous_variant	Q	0	NA	Chromatin_Structure|DNase-seq|Medullo	5	5.81	NA	NA
chr15	59732148	59439949	A	C	A	FAM81A	B	splice_region_variant,intron_variant	-	0.000457875	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|T47d, Protein_Binding|ChIP-seq|ESR1, Protein_Binding|ChIP-seq|ESR1	4	1.17	NA	NA
chr15	74212297	73919956	T	C	C	LOXL1-AS1	A	splice_region_variant,intron_variant,nc_transcript_variant	-	0	NA	Motifs|PWM|Rfx4, Chromatin_Structure|DNase-seq|Hl60	5	-2.87	NA	NA
chr15	78911261	78618919	T	C	T	CHRNA3	B	splice_region_variant,intron_variant	-	0.00686813	0.99137	Chromatin_Structure|DNase-seq|Hl60	5	-9.71	CHEMDEPENDENCY|CANCER|CANCER|CARDIOVASCULAR|CANCER|CANCER|CANCER|CHEMDEPENDENCY|OTHER	NA
chr17	7906057	8002739	A	G	A	GUCY2D	B	splice_region_variant,intron_variant	-	0.000915751	NA	Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|Footprinting|LUN-1, Motifs|PWM|LUN-1, Motifs|PWM|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|mTERF, Motifs|Footprinting|HOXA5, Motifs|Footprinting|RORA_1, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Gm12864, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|FAIRE|Helas3	5	3.74	NA	Cone-rod dystrophy|Cataract|Decreased electroretinogram (ERG) amplitude|Pigmentary retinopathy|Intellectual disability|Autosomal dominant inheritance|Photophobia|Autosomal recessive inheritance|Fundus atrophy|Blindness|Decreased central vision|Sensorineural hearing impairment|Hyperthreoninemia|Growth delay|Keratoconus|Peripheral visual field loss|Hyperthreoninuria|Eye poking|Nystagmus|Hepatomegaly
chr17	8141707	8238389	T	C	C	CTC1	A	splice_region_variant,intron_variant	-	0	NA	NA	NA	-3.51	NA	Sparse hair|Abnormality of extrapyramidal motor function|Oral leukoplakia|Autosomal recessive inheritance|Blindness|Exudative retinopathy|Retinal telangiectasia|Short stature|Genu valgum|Osteoporosis|Anemia|Osteopenia|Phenotypic variability|Cerebral calcification|Tremor|Nail dysplasia|Hemiplegia|Metaphyseal sclerosis|Ataxia|Optic atrophy|Progressive disorder|Seizures|Postnatal growth retardation|Thrombocytopenia|Leukodystrophy|Dysarthria|Bone marrow hypocellularity|Scoliosis|Intestinal bleeding|Dystonia|Short femoral neck|Spasticity|Leukoencephalopathy|Mental deterioration|Intrauterine growth retardation|Infantile onset|Thin skin|Pathologic fracture
chr17	18882991	18979678	T	A	T	FAM83G	C	splice_region_variant,intron_variant	-	0.00961538	NA	Motifs|PWM|LUN-1, Motifs|Footprinting|LUN-1, Chromatin_Structure|DNase-seq|Fibrop	5	-1.78	NA	NA
chr17	35956263	1835328	T	C	NA	SYNRG	B	splice_region_variant,intron_variant	-	0.00641026	0.989851	Protein_Binding|ChIP-seq|RFX3	5	3.22	NA	NA
chr17	73328773	75332692	T	C	T	GRB2	C	splice_region_variant,intron_variant	-	0.00869963	0.988082	Protein_Binding|ChIP-seq|NFYB	5	-1.46	NA	NA
chr18	21694618	24114654	G	A	A	TTC39C	A	splice_region_variant,intron_variant	-	0	0.999923	Motifs|PWM|Elf3, Motifs|PWM|Elf3, Motifs|PWM|Elf3, Motifs|PWM|Srf, Motifs|PWM|Srf, Motifs|PWM|Srf, Motifs|PWM|Srf, Protein_Binding|ChIP-seq|MEF2A	5	1.49	NA	NA
chr18	28611139	31031173	A	C	C	DSC3	A	splice_acceptor_variant	-	0	0.999923	Chromatin_Structure|DNase-seq|K562, Protein_Binding|ChIP-seq|TAL1	4	4.33	OTHER	Sparse/absent eyelashes|Hypotrichosis|Autosomal recessive inheritance|skin vesicle|Sparse scalp hair|Sparse axillary hair|Aplasia/Hypoplasia of the eyebrow
chr18	55364852	57697620	A	G	A	ATP8B1	B	splice_region_variant,synonymous_variant	D	0.00457875	0.99308	Chromatin_Structure|FAIRE|Medullo, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3Ifna4h	5	-1.16	OTHER|METABOLIC|IMMUNE|PSYCH	Abnormal liver function tests during pregnancy|Biliary cirrhosis|Intrahepatic cholestasis|increased serum bile acid concentration during pregnancy|Pancreatitis|Jaundice|Autosomal dominant inheritance|Intrahepatic cholestasis with episodic jaundice|Pruritus|Autosomal recessive inheritance|Diarrhea|Cirrhosis|Splenomegaly|Failure to thrive|Infantile onset|Fat malabsorption|Severe short stature|Hepatomegaly|Intermittent jaundice|Premature birth|Conjugated hyperbilirubinemia
chr18	56202059	58534827	A	G	A	ALPK2	B	splice_region_variant,intron_variant	-	0.00412088	0.996002	Motifs|Footprinting|BRCA1:USF2, Motifs|PWM|BRCA1:USF2, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|FAIRE|Gm19239, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Th1, Chromatin_Structure|FAIRE|Medullo, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|POU2F2, Protein_Binding|ChIP-seq|YY1	2b	0.947	NA	NA
chr18	59805532	62138299	T	C	C	PIGN	A	splice_acceptor_variant	-	0	NA	Motifs|PWM|Gm397, Chromatin_Structure|FAIRE|Medullo, Chromatin_Structure|DNase-seq|Wi38	5	5.34	NA	Long philtrum|Patent ductus arteriosus|Narrow forehead|Depressed nasal bridge|Large fleshy ears|Autosomal recessive inheritance|Coarse facial features|Open mouth|Macrocephaly|Gastroesophageal reflux|Anal atresia|High palate|Overfolded helix|Anal stenosis|Nystagmus|Hyperreflexia|Tremor|Short nose|Seizures|Thin vermilion border|Global developmental delay|Polyhydramnios|Choreoathetosis|Defect in the atrial septum|Hyporeflexia|Hydronephrosis|Congenital onset
chr19	8191238	8126354	C	T	C	FBN3	B	splice_region_variant,intron_variant	-	0.00595238	0.998845	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Panislets	5	-1.54	NA	NA
chr19	11221454	11110778	T	C	C	LDLR	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|Elk-1, Motifs|PWM|Ehf, Motifs|PWM|Egr1, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Caco2, Chromatin_Structure|DNase-seq|Nhek, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A	3a	0.216	NEUROLOGICAL|CARDIOVASCULAR|CARDIOVASCULAR|METABOLIC|METABOLIC|CARDIOVASCULAR|INFECTION|METABOLIC|METABOLIC|OTHER|OTHER|OTHER|OTHER|METABOLIC|METABOLIC|METABOLIC|OTHER|METABOLIC|METABOLIC|METABOLIC|CARDIOVASCULAR|METABOLIC|INFECTION|METABOLIC|CARDIOVASCULAR|METABOLIC|METABOLIC|METABOLIC|METABOLIC|METABOLIC|METABOLIC	Autosomal dominant inheritance|Premature coronary artery disease|Xanthelasma|Corneal arcus|Hypercholesterolemia
chr19	36243813	35752912	G	A	A	LIN37	A	splice_acceptor_variant	-	0	NA	Motifs|PWM|BRCA1:USF2	6	4.31	NA	NA
chr19	41811730	41305825	T	C	T	HNRNPUL1	B	splice_region_variant,intron_variant	-	0.00457875	0.990924	Motifs|Footprinting|ESR1, Motifs|Footprinting|ESR2, Motifs|Footprinting|ESR1, Motifs|PWM|ER, Motifs|PWM|ESR1, Motifs|PWM|ESR1, Motifs|PWM|ESR2, Motifs|Footprinting|ER, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Huh75	5	-9.33	NA	NA
chr19	44429469	43925317	G	A	G	ZNF45	C	splice_region_variant,intron_variant	-	0.00457875	NA	Motifs|PWM|Elf3	6	-1.03	NA	NA
chr20	13845987	13865341	C	T	C	SEL1L2	B	splice_region_variant,intron_variant	-	0.003663	0.987534	Protein_Binding|ChIP-seq|POU5F1	5	3.54	NA	NA
chr20	24524218	24543582	C	G	C	SYNDIG1	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|Bhlhb2, Motifs|PWM|Arnt, Motifs|PWM|Arnt, Protein_Binding|ChIP-seq|USF1, Protein_Binding|ChIP-seq|USF1	5	4.5	NA	NA
chr20	43264927	44636286	C	T	C	ADA	B	splice_region_variant,synonymous_variant	V	0.00961538	0.984622	NA	NA	-6.77	INFECTION|REPRODUCTION|PSYCH|CARDIOVASCULAR	Autoimmune thrombocytopenia|Autosomal recessive inheritance|Absent specific antibody response|Aplasia of the thymus|Severe B lymphocytopenia|Lymphopenia|B lymphocytopenia|Autoimmune hemolytic anemia|Diffuse mesangial sclerosis|Increased IgE level|Hepatomegaly|Platyspondyly|Asthma|Recurrent bacterial infections|Eosinophilia|Abnormality of pelvic girdle bone morphology|Diarrhea|Splenomegaly|Failure to thrive|Somatic mosaicism|Anterior rib cupping|Pneumonia|Sinusitis|Severe combined immunodeficiency|Recurrent viral infections|B-cell lymphoma|Recurrent fungal infections
chr20	43366211	44737570	C	A	C	RP11-445H22.4	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant	-	0.00137363	NA	NA	NA	-1.24	NA	NA
chr20	62697751	64066398	T	C	T	TCEA2	B	splice_region_variant,intron_variant	-	0.00503663	NA	Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|DNase-seq|Myometr, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Huvec, Chromatin_Structure|DNase-seq|Stellate, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|FAIRE|Htr8, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|DNase-seq|Hpde6e6e7, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|DNase-seq|Hasp, Chromatin_Structure|FAIRE|Gm18507, Chromatin_Structure|DNase-seq|UrotsaUt189, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|USF2	4	-3.14	NA	NA
chr21	30660302	29287981	T	C	C	BACH1	A	splice_region_variant,intron_variant	-	0	NA	Motifs|PWM|MEF-2, Motifs|PWM|MEF-2, Motifs|PWM|Freac-7, Motifs|PWM|RSRFC4, Motifs|PWM|FOXJ2, Motifs|PWM|POU3F2, Motifs|PWM|TBP, Motifs|PWM|HNF3, Motifs|PWM|FOXO3A, Motifs|PWM|MEF2A	6	-3	NA	NA
chr21	37429679	36057381	G	C	C	SETD4	A	splice_region_variant,intron_variant	-	0	NA	Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hmf, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|Wi38, Protein_Binding|ChIP-seq|STAT3	4	0.235	NA	NA
chr22	22901579	22559172	A	G	G	PRAME	A	splice_region_variant,intron_variant	-	0	NA	Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|PWM|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Motifs|Footprinting|COMP1, Chromatin_Structure|DNase-seq|Chorion, Chromatin_Structure|DNase-seq|UrotsaUt189, Chromatin_Structure|DNase-seq|Urotsa, Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Medullo, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|A549, Chromatin_Structure|DNase-seq|Gm12891, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Progfib, Chromatin_Structure|DNase-seq|Huh75, Chromatin_Structure|DNase-seq|Gm19238, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Huh7, Chromatin_Structure|DNase-seq|T47d, Chromatin_Structure|DNase-seq|Helas3, Chromatin_Structure|DNase-seq|Gliobla, Chromatin_Structure|DNase-seq|Gm19239, Chromatin_Structure|DNase-seq|Hepatocytes, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Helas3Ifna4h, Chromatin_Structure|DNase-seq|Htr8, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Gm12891, Chromatin_Structure|DNase-seq|Gm12878, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|K562, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|FAIRE|UrotsaUt189, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Hepg2, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Gm18507, Chromatin_Structure|FAIRE|K562, Chromatin_Structure|FAIRE|Urotsa, Chromatin_Structure|DNase-seq|H9es, Chromatin_Structure|DNase-seq|Cll, Chromatin_Structure|DNase-seq|Gm19240, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|FAIRE|Helas3, Chromatin_Structure|DNase-seq|Fibrobl, Chromatin_Structure|DNase-seq|Mcf7, Chromatin_Structure|DNase-seq|Hmec, Chromatin_Structure|DNase-seq|Huvec, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|YY1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SIN3A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|CTCF	2b	-1.14	NA	NA
chrX	54117740	54091307	C	A	C	FAM120C	B	splice_region_variant,intron_variant	-	0.00301386	0.995551	NA	NA	-0.921	NA	NA
chrX	126930311	127796330	A	G	A	RP1-107N3.2	B	splice_region_variant,intron_variant,nc_transcript_variant	-	0	NA	NA	NA	1.07	NA	NA
chrX	153170980	153905526	T	G	T	AVPR2	B	splice_region_variant,intron_variant	-	0.00180832	NA	Chromatin_Structure|DNase-seq|Hsmm, Chromatin_Structure|DNase-seq|Gm12892, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Hsmmt, Chromatin_Structure|DNase-seq|H1hesc, Chromatin_Structure|DNase-seq|Lncap, Chromatin_Structure|DNase-seq|Panislets, Chromatin_Structure|DNase-seq|Phte, Chromatin_Structure|DNase-seq|Fibrop, Chromatin_Structure|DNase-seq|Osteobl, Chromatin_Structure|DNase-seq|Panisd, Chromatin_Structure|DNase-seq|Hl60, Chromatin_Structure|DNase-seq|8988t, Chromatin_Structure|DNase-seq|Ips, Chromatin_Structure|DNase-seq|Gm12891	5	1.29	RENAL	Polyuria|Feeding difficulties in infancy|Increased urinary sodium|Seizures|Intellectual disability|Irritability|Hypernatremia|Short stature|Vomiting|Hypertonic dehydration|Failure to thrive|Constipation|Elevated systolic blood pressure|Polydipsia|Lower urinary tract dilatation|Hyponatremia|Unexplained fevers|X-linked recessive inheritance|Neonatal onset|Decreased circulating renin level