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	27535311	27312443	T	TG	TGG	MPV17	A	frameshift_variant,feature_elongation	-	0	0.99984	Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|HNF4A	4	-10	NA	Abnormality of the foot|Autosomal recessive inheritance|Short stature|Acral ulceration and osteomyelitis leading to autoamputation of digits|Increased susceptibility to fractures|Microvesicular hepatic steatosis|Distal muscle weakness|Painless fractures due to injury|Phenotypic variability|Prolonged neonatal jaundice|Nystagmus|Hepatomegaly|Areflexia|Reye syndrome-like episodes|Hypoglycemia|Lactic acidosis|Ataxia|Progressive disorder|Macrovesicular hepatic steatosis|Abnormality of the immune system|Global developmental delay|Pain insensitivity|Diarrhea|Sensorimotor neuropathy|Dystonia|Vomiting|Cirrhosis|Failure to thrive|Acute hepatic failure|Recurrent corneal erosions|Infantile onset|Hyporeflexia|Osteomyelitis|Decreased number of peripheral myelinated nerve fibers|Elevated hepatic transaminases
chr2	71062833	70835702	G	GC	GCC	CD207	A	frameshift_variant,splice_region_variant,feature_elongation	-	0	NA	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	3.98	NA	NA
chr2	72692272	72465143	A	AAG	AAG	EXOC6B	B	frameshift_variant,feature_elongation	-	0.00412088	0.996521	Motifs|PWM|Myb	6	0.179	NA	NA
chr3	44540791	44499299	TTC	T	TTC	ZNF852	B	frameshift_variant,feature_truncation	-	0.00137363	NA	Protein_Binding|ChIP-seq|ZNF274, Protein_Binding|ChIP-seq|SETDB1	5	1.98|0|0	NA	NA
chr5	77745853	78450029	C	CA	CAA	SCAMP1	A	frameshift_variant,feature_elongation	-	0	NA	No data	7	1.1	NEUROLOGICAL	NA
chr5	135513085	136177396	T	TC	TCA	SMAD5	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	No data	7	3.49	NA	NA
chr7	36552729	36513121	A	AT	ATT	AOAH	A	frameshift_variant,feature_elongation	-	0	NA	No data	7	0.199	IMMUNE	NA
chr7	36552790	36513183	G	GT	GTT	AOAH	A	frameshift_variant,feature_elongation	-	0	NA	No data	7	-1.71	IMMUNE	NA
chr7	44180079	44140480	A	AG	AG	MYL7	B	frameshift_variant,feature_elongation	-	0.000915751	NA	Motifs|PWM|Zfx, Motifs|Footprinting|Zfx, Chromatin_Structure|DNase-seq	5	0.79	NA	NA
chr7	75914934	76285616	G	GC	GCC	SRRM3	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.000915751	0.999436	Chromatin_Structure|DNase-seq	5	4.24	NA	NA
chr7	101200669	101557388	A	AG	AGG	COL26A1	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.00137363	0.999659	Motifs|PWM|REST	6	2.17	NA	NA
chr7	150713902	151016814	G	GC	GCC	ATG9B	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	Chromatin_Structure|DNase-seq	5	5.33	NA	NA
chr8	21966707	22109195	CG	C	C	NUDT18	B	frameshift_variant,feature_truncation	-	0.000915751	0.999236	Motifs|Footprinting|CTCF, Motifs|PWM|CTCF, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|ETS1, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|FOS, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2	2a	5.17|0	NA	NA
chr8	38827185	38969667	GC	G	G	PLEKHA2	B	frameshift_variant,splice_region_variant,feature_truncation	-	0.00824176	0.999913	No data	7	-8.52|1.82	NA	NA
chr8	48805816	47893255	A	AG	AGG	PRKDC	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	No data	7	5.82	NA	NA
chr8	120220775	119208536	CG	C	C	MAL2	B	frameshift_variant,splice_region_variant,feature_truncation	-	0.00595238	0.994046	Motifs|Footprinting|SP1, Motifs|Footprinting|AP-2gamma, Motifs|Footprinting|TFAP2A, Motifs|PWM|ESR1, Motifs|PWM|SP1, Motifs|PWM|TFAP2A, Motifs|Footprinting|AP-2alpha, Motifs|PWM|Smad3, Motifs|Footprinting|ESR1, Motifs|PWM|AP-2alpha, Motifs|PWM|AP-2gamma, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|POLR2A	2b	0.69|4.05	NEUROLOGICAL	NA
chr8	145738767	144513384	CG	C	C	RECQL4	B	splice_donor_variant,frameshift_variant,feature_truncation	-	0.00503663	NA	Motifs|Footprinting|Pax-4, Motifs|PWM|Pax-4, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	4.75|0	OTHER	Congenital hip dislocation|Kyphoscoliosis|Joint dislocation|Hypoplasia of the radius|Autosomal recessive inheritance|Myopia|Long face|Epicanthus|Perineal fistula|Limited elbow movement|Absent thumb|Cryptorchidism|Microphthalmos|Short thumb|Stiff interphalangeal joints|Hypertelorism|Premature graying of hair|Spina bifida occulta|Anomalous splenoportal venous system|Mandibular prognathia|Sparse hair|Abnormality of the kidney|Micrognathia|Poikiloderma|Abnormality of the vertebrae|Patellar hypoplasia|Abnormality of the nail|Alopecia|Small chin|Forearm reduction defects|Absent radius|Mottled pigmentation|Blepharophimosis|Low-set, posteriorly rotated ears|Anteriorly placed anus|Hypoplasia of the ulna|Sagittal craniosynostosis|Lambdoidal craniosynostosis|Coronal craniosynostosis|Agenesis of permanent teeth|Aplasia of metacarpal bones|Hearing impairment|Ulnar bowing|Flat forehead|Talipes equinovarus|Delayed eruption of teeth|Rectovaginal fistula|Squamous cell carcinoma|Small hand|Short foot|Hypogonadism|Conductive hearing impairment|Aplasia/Hypoplasia of the thumb|Osteoporosis|Anal atresia|Short palm|Microdontia|Short nose|Cleft palate|Optic atrophy|Frontal bossing|Seizures|Intellectual disability|Annular pancreas|Narrow mouth|Diarrhea|Carpal bone aplasia|Malformation of the heart and great vessels|Prominent nasal bridge|Underdeveloped nasal alae|Slender nose|Rib fusion|Agenesis of corpus callosum|Aphalangy of the hands|Dermal atrophy|Aplasia/Hypoplasia of the radius|Aplasia/Hypoplasia of the patella|Telangiectasia|Bifid uvula|Short stature|High palate|Cutaneous photosensitivity|Increased number of teeth|Polymicrogyria|Choanal stenosis|Basal cell carcinoma|Osteosarcoma|Hydrocephalus|Limited shoulder movement|Short humerus|Glaucoma|Scoliosis|Carpal synostosis|Downslanted palpebral fissures|Midface capillary hemangioma|Brachyturricephaly|Strabismus|Juvenile zonular cataracts|Microcornea
chr10	118383463	116623951	A	AG	AGG	PNLIPRP2	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.000915751	NA	Chromatin_Structure|DNase-seq	5	4.52	NA	NA
chr11	67786064	68018594	A	AC	ACC	ALDH3B1	A	frameshift_variant,splice_region_variant,feature_elongation	-	0	0.99957	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ESR1	4	2.77	NA	NA
chr11	67789293	68021824	G	GC	GCC	ALDH3B1	B	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0.000457875	NA	Motifs|PWM|RNF96, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	3.89	NA	NA
chr11	76751541	77040497	CT	C	C	B3GNT6	A	frameshift_variant,feature_truncation	-	0	NA	Chromatin_Structure|DNase-seq	5	2.89|0	NA	NA
chr11	76751584	77040539	CT	C	C	B3GNT6	A	frameshift_variant,feature_truncation	-	0	0.999103	Motifs|PWM|ESR1, Motifs|Footprinting|ESR2, Motifs|PWM|ESR2, Motifs|Footprinting|ESR1, Chromatin_Structure|DNase-seq	5	2.89|0	NA	NA
chr11	76751603	77040557	CT	C	C	B3GNT6	B	frameshift_variant,feature_truncation	-	0.0018315	0.999917	Chromatin_Structure|DNase-seq	5	1.95|0	NA	NA
chr11	94800902	95067738	G	GC	GCC	SRSF8	B	frameshift_variant,feature_elongation	-	0.00228938	0.999832	Motifs|Footprinting|NRSF, Motifs|PWM|NRSF, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|TAF1, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|CDX2	2b	0.235	NA	NA
chr11	112832307	112961585	G	GA	GAA	NCAM1	B	frameshift_variant,feature_elongation	-	0.00503663	0.999388	Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|TRIM28, Protein_Binding|ChIP-seq|IKZF1	4	3.88	PSYCH|PSYCH	NA
chr11	112832339	112961618	GC	G	G	NCAM1	A	frameshift_variant,feature_truncation	-	0	NA	Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|IKZF1	4	3.9|0	PSYCH|PSYCH	NA
chr11	118898435	119027725	AC	A	AC	SLC37A4	B	frameshift_variant,splice_region_variant,feature_truncation	-	0.00595238	NA	No data	7	0.22|0	NA	Delayed puberty|Hypertension|Autosomal recessive inheritance|Short stature|Oral ulcer|Renal insufficiency|Osteoporosis|Proteinuria|Capillary hemangiomas|Hepatomegaly|Hyperlipidemia|Metabolic acidosis|Hematuria|Hypoglycemia|Recurrent bacterial infections|Lactic acidosis|Nephrolithiasis|Pancreatitis|Xanthomatosis|Hepatoblastoma|Focal segmental glomerulosclerosis|Hepatocellular carcinoma|Neutropenia|Ketosis|Protuberant abdomen|Enlarged kidneys|Chronic pancreatitis|Abnormality of  blood and blood-forming tissues|Doll-like facies|Lipemia retinalis|Elevated hepatic transaminases|Pulmonary hypertension|Gout|Reduced creatinine clearance
chr11	118939939	119069228	T	TC	TCC	VPS11	A	frameshift_variant,splice_region_variant,feature_elongation	-	0	NA	No data	7	5.63	NA	NA
chr11	125452300	125582404	A	AC	ACC	EI24	A	frameshift_variant,splice_region_variant,feature_elongation	-	0	0.999824	No data	7	5.39	NA	NA
chr12	6938023	6828858	C	CG	CGG	LEPREL2	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.00274725	0.998162	Motifs|Footprinting|, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|CDX2	4	2.9	NA	NA
chr14	22972783	22503798	AC	A	A	TRAJ37	B	frameshift_variant,feature_truncation	-	0.00274725	NA	No data	7	2.34|0	NA	NA
chr14	22974150	22505164	TC	T	T	TRAJ36	A	frameshift_variant,feature_truncation	-	0	NA	No data	7	4.27|2.48	NA	NA
chr15	99646107	99105901	A	AG	AGA	SYNM	B	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0.000915751	0.999008	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|NRF1	4	-8.22	NA	NA
chr16	138772	88773	A	AG	AGG	NPRL3	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	Motifs|Footprinting|HEB, Motifs|PWM|HEB, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|POLR2A	2b	5.51	NA	NA
chr16	76311602	76277704	G	GT	GTT	CNTNAP4	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	No data	7	3.81	NA	NA
chr17	6555546	6652226	C	CG	CGG	C17orf100	B	frameshift_variant,feature_elongation	-	0.003663	NA	Motifs|Footprinting|CNOT3, Motifs|PWM|CNOT3, Motifs|PWM|RNF96, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ZNF263, Protein_Binding|ChIP-seq|MAX, Protein_Binding|ChIP-seq|SETDB1	2b	-0.543	NA	NA
chr17	8725214	8821896	A	AG	AGG	PIK3R6	A	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0	NA	No data	7	4.23	NA	NA
chr17	26684390	28357364	G	GC	GC	POLDIP2	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.00732601	0.996455	Motifs|PWM|Pax-5, Motifs|Footprinting|Pax-5, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|SPDEF, Protein_Binding|ChIP-seq|GATA1, Protein_Binding|ChIP-seq|HNF4A, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|ELF1, Protein_Binding|ChIP-seq|IKZF1, Protein_Binding|ChIP-seq|ZBTB7A, Protein_Binding|ChIP-seq|GABPA, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|E2F1, Protein_Binding|ChIP-seq|CDX2	2b	3.78	NA	NA
chr17	26692224	28365202	A	AG	AGG	VTN	A	frameshift_variant,feature_elongation	-	0	NA	Chromatin_Structure|DNase-seq	5	0	NA	NA
chr17	26699195	28372174	C	CG	CGC	SARM1	B	frameshift_variant,feature_elongation	-	0.00961538	0.987943	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|POLR2A	4	3.8	NA	NA
chr17	26699367	28372347	G	GC	GCC	SARM1	B	frameshift_variant,feature_elongation	-	0.00869963	0.998547	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	0.754	NA	NA
chr17	26727721	28400705	GA	G	G	SLC46A1	B	splice_acceptor_variant,frameshift_variant,feature_truncation	-	0.00137363	0.999668	No data	7	4.58|5.55	NA	Leukopenia|Basal ganglia calcification|Athetosis|Muscular hypotonia|Recurrent infections|Ataxia|Feeding difficulties in infancy|Seizures|Intellectual disability|Autosomal recessive inheritance|Global developmental delay|Neutropenia|Thrombocytopenia|Irritability|Diarrhea|Dyskinesia|Peripheral neuropathy|Failure to thrive|Oral ulcer|Infantile onset|Folate-responsive megaloblastic anemia|Malabsorption
chr17	34100350	35773345	G	GC	GCA	MMP28	A	frameshift_variant,NMD_transcript_variant,feature_elongation	-	0	NA	Motifs|Footprinting|TP53, Motifs|PWM|TP53, Chromatin_Structure|DNase-seq	5	4.99	NA	NA
chr17	43192549	45115181	T	TC	TCC	PLCD3	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.00228938	0.999666	Chromatin_Structure|DNase-seq	5	3.95	CARDIOVASCULAR	NA
chr19	36214632	35723730	A	AG	AGG	KMT2B	A	frameshift_variant,splice_region_variant,feature_elongation	-	0	0.999265	Motifs|PWM|RNF96, Chromatin_Structure|DNase-seq	5	5	NA	NA
chr19	36258937	35768036	AG	A	A	C19orf55	A	frameshift_variant,splice_region_variant,feature_truncation	-	0	NA	Chromatin_Structure|DNase-seq	5	3.35|3.34	NA	NA
chr19	56052337	55540970	A	AC	ACC	SBK3	A	frameshift_variant,feature_elongation	-	0	NA	Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ZNF263	4	-0.0316	NA	NA
chr19	58413071	57901703	T	TG	TG	ZNF417	B	frameshift_variant,feature_elongation	-	0.000457875	NA	No data	7	0	NA	NA
chr19	58718360	58206993	A	AG	AGG	ZNF274	B	frameshift_variant,splice_region_variant,feature_elongation	-	0.00137363	0.99992	Chromatin_Structure|DNase-seq	5	2.74	NA	NA
chr21	34948684	33576378	G	GA	GA	SON	A	frameshift_variant,feature_elongation	-	0	0.99952	Motifs|PWM|C/EBPbeta	6	5.42	NA	NA
chr21	34948696	33576390	GA	G	GA	SON	A	frameshift_variant,feature_truncation	-	0	NA	Motifs|PWM|Hand1:E47	6	5.42|0	NA	NA
chr22	45810278	45414397	A	AC	ACC	RIBC2	B	frameshift_variant,feature_elongation	-	0.000915751	0.999033	Motifs|PWM|Smad3, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ETS1	3a	0.26	NA	NA
chr22	51042513	50604084	C	CG	CGC	MAPK8IP2	C	frameshift_variant,splice_region_variant,intron_variant,feature_elongation	-	0.00915751	0.995883	Motifs|PWM|AP-2, Motifs|Footprinting|AP-2alphaA, Motifs|Footprinting|AP-2, Motifs|PWM|AP-2alphaA, Chromatin_Structure|DNase-seq	5	1.95	NA	NA
chrX	104464276	105219594	CA	C	CA	TEX13A	B	splice_acceptor_variant,frameshift_variant,feature_truncation	-	0	0.999256	Chromatin_Structure|DNase-seq	5	1.17|-1.79	NA	NA
chrX	104464281	105219598	TC	T	T	TEX13A	B	splice_donor_variant,frameshift_variant,feature_truncation	-	0	0.999365	Chromatin_Structure|DNase-seq	5	-3.31|0.678	NA	NA
chrX	122336600	123202748	T	TG	TGG	GRIA3	B	frameshift_variant,feature_elongation	-	0	NA	No data	7	-0.86	REPRODUCTION	Myoclonus|Macrocephaly|Autism|Seizures|Intellectual disability|Distal muscle weakness|Hyporeflexia|X-linked recessive inheritance|Slender build
chrX	153149707	153884252	C	CG	CG	LCA10	B	frameshift_variant,feature_elongation	-	0	NA	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ZNF263	4	-4.18	NA	NA
chrX	153149708	153884253	G	GC	GCT	LCA10	B	frameshift_variant,feature_elongation	-	0	NA	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ZNF263	4	0.524	NA	NA
chrX	153151280	153885826	G	GCC	GCA	LCA10	B	frameshift_variant,feature_elongation	-	0	0.996108	Motifs|Footprinting|HEN1, Motifs|PWM|HEN1, Chromatin_Structure|DNase-seq	5	1.99	NA	NA
chrX	153151284	153885830	GT	G	GT	LCA10	B	frameshift_variant,feature_truncation	-	0.00542495	0.999575	Chromatin_Structure|DNase-seq	5	2.92|0.0995	NA	NA
chr2	6872399	6732267	G	GA	GAA	LINC00487	A	splice_region_variant,intron_variant,nc_transcript_variant,feature_elongation	-	0	NA	Motifs|PWM|Tcfap2e, Motifs|PWM|POU3F2	6	0.772	NA	NA
chr2	31805880	NA	A	AG	NA	SRD5A2	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	-	0.00412088	NA	Motifs|PWM|Tcfap2b, Chromatin_Structure|DNase-seq	5	-8.31	DEVELOPMENTAL|CANCER|DEVELOPMENTAL|CANCER|CANCER|CANCER|METABOLIC|CANCER|CANCER|METABOLIC|CANCER|CANCER|CANCER|CANCER|CANCER|AGING|CANCER	Perineal hypospadias|Abnormality of the voice|Ambiguous genitalia, male|Bifid scrotum|Abnormality of the hair|Abnormality of metabolism/homeostasis|Micropenis|Autosomal recessive inheritance|Abnormality of the endocrine system|Phenotypic variability
chr2	85143040	84915916	T	TG	TG	AC022210.2	B	splice_region_variant,intron_variant,nc_transcript_variant,feature_elongation	-	0.003663	NA	No data	7	-0.093	NA	NA
chr2	219692790	218828067	A	AG	AG	PRKAG3	A	splice_region_variant,intron_variant,feature_elongation	-	0	0.999596	Motifs|PWM|Bcl6b, Motifs|PWM|Zfp410, Chromatin_Structure|DNase-seq	5	-2.44	NA	NA
chr3	11924613	11883139	AG	A	AG	FANCD2P2	B	splice_region_variant,intron_variant,nc_transcript_variant,feature_truncation	-	0.00503663	NA	Motifs|PWM|Sox7, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	-0.952|0	NA	NA
chr3	12329178	12287679	GC	G	GC	PPARG	B	splice_region_variant,intron_variant,feature_truncation	-	0.00320513	NA	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|HEY1, Protein_Binding|ChIP-seq|TFAP2C, Protein_Binding|ChIP-seq|RAD21, Protein_Binding|ChIP-seq|SMC3, Protein_Binding|ChIP-seq|CTCF, Protein_Binding|ChIP-seq|POLR2A, Protein_Binding|ChIP-seq|SUZ12, Protein_Binding|ChIP-seq|E2F1	4	0.739|0	METABOLIC	Acanthosis nigricans|Hypertension|Autosomal dominant inheritance|Insulin-resistant diabetes mellitus|Loss of subcutaneous adipose tissue in limbs|Abnormality of the neck|Loss of gluteal subcutaneous adipose tissue|Prominent superficial veins|Decreased subcutaneous fat|Increased carotid artery intimal medial thickness|Hirsutism|Lipodystrophy|Hyperglycemia|Polycystic ovaries|Oligomenorrhea|Abnormality of the face|Polygenic inheritance|Maternal diabetes|Abnormality of metabolism/homeostasis|Primary amenorrhea|Hepatic steatosis|Abnormality of the musculature|Cirrhosis|Hypoalphalipoproteinemia|Hyperuricemia|Hyperinsulinemia|Obesity|Preeclampsia|Hypertriglyceridemia
chr3	45677635	45636143	C	CT	CT	LIMD1	B	splice_region_variant,intron_variant,feature_elongation	-	0.00412088	NA	Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|HNF4A	4	2.82	NA	NA
chr3	50251833	50214400	A	AG	AGG	SLC38A3	B	splice_acceptor_variant,nc_transcript_variant,feature_elongation	-	0.000915751	0.999832	Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq	5	4.63	NA	NA
chr3	53324819	NA	ATGGCAC	A	NA	DCP1A	C	splice_donor_variant,intron_variant,feature_truncation	-	0.00915751	0.994848	No data	7	4.14|2.99|3.27|3.26|3.26|4.14|3.26	NA	NA
chr4	87313	87423	G	GA	GAA	Z95704.2	A	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	-	0	NA	Protein_Binding|ChIP-seq|ZNF274, Protein_Binding|ChIP-seq|SETDB1	5	-0.627	NA	NA
chr4	124930	125049	CA	C	C	Z95704.5	A	splice_donor_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	-	0	NA	Motifs|PWM|Isgf3g, Chromatin_Structure|FAIRE, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|ELF1	3a	0.361|0	NA	NA
chr5	140568034	141188460	C	CA	CAA	PCDHB9	A	splice_region_variant,intron_variant,nc_transcript_variant,feature_elongation	-	0	0.99992	Chromatin_Structure|DNase-seq	5	0.278	NA	NA
chr7	28997596	28957979	G	GC	GCC	AC005013.1	B	splice_region_variant,nc_transcript_variant,feature_elongation	-	0.00274725	0.999738	Motifs|Footprinting|NRSF, Motifs|PWM|NRSF, Chromatin_Structure|DNase-seq, Protein_Binding|ChIP-seq|CTCF	2b	3.2	NA	NA
chr7	149506211	149809123	G	GC	GC	SSPO	B	splice_region_variant,non_coding_exon_variant,nc_transcript_variant,feature_elongation	-	0.003663	NA	Motifs|PWM|Ascl2, Motifs|Footprinting|HEN1, Motifs|PWM|myogenin/NF-1, Motifs|PWM|HEN1, Motifs|PWM|NeuroD, Motifs|Footprinting|Myf, Motifs|Footprinting|NeuroD, Motifs|PWM|MYF, Motifs|Footprinting|NHLH1, Motifs|Footprinting|myogenin/NF-1, Motifs|PWM|NHLH1, Motifs|PWM|Myf, Chromatin_Structure|DNase-seq	5	2.3	NA	NA
chr7	159024456	159231766	G	GAGGGAGCAACCT	GGACCCCTGCTCA	PIP5K1P2	B	splice_region_variant,intron_variant,nc_transcript_variant,feature_elongation	-	0.00457875	NA	Motifs|PWM|PLAG1, Chromatin_Structure|DNase-seq	5	-0.298	NA	NA
chr11	46342081	46320530	TG	T	TG	CREB3L1	B	splice_donor_variant,feature_truncation	-	0.00549451	0.999916	Motifs|PWM|E2A, Motifs|PWM|SREBP1, Motifs|Footprinting|E2A, Motifs|PWM|RREB-1, Motifs|PWM|MyoD, Chromatin_Structure|DNase-seq	5	4.69|-3.8	NA	NA
chr15	98995052	98451823	G	GT	GT	FAM169B	B	splice_region_variant,intron_variant,feature_elongation	-	0.003663	0.996208	Motifs|PWM|Zfp281, Chromatin_Structure|DNase-seq	5	-9.02	NA	NA
chr18	61326628	63659394	A	AT	AT	SERPINB3	C	splice_region_variant,intron_variant,feature_elongation	-	0.00732601	NA	No data	7	3.13	NA	NA
chr21	32201969	30829651	GA	G	G	AP000244.1	A	splice_acceptor_variant,non_coding_exon_variant,nc_transcript_variant,feature_truncation	-	0	0.999436	No data	7	5.13|0	NA	NA
chr22	36006923	35610876	G	GC	GC	MB	B	splice_region_variant,intron_variant,feature_elongation	-	0.0018315	NA	No data	7	0.616	NA	NA