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Genes:
AAGAB, ABHD17C, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKRD63, ANPEP, ANXA2, AP4E1, APH1B, AQP9, AQR, ARRDC4, ATP10A, ATP8B4, AVEN, BAHD1, BBS4, BCL2A1, BNIP2, BUB1B, C15ORF37, C15orf27, C15orf32, C15orf39, C15orf40, C15orf41, C15orf52, C15orf53, C15orf56, C15orf59, C2CD4B, CALML4, CAPN3, CASC5, CCDC33, CCPG1, CDAN1, CERS3, CGNL1, CHD2, CHRNA3, CHRNA5, CHRNB4, CHSY1, CILP, CPEB1, CRABP1, CRTC3, CSPG4, CTD-2054N24.2, CTSH, CYFIP1, CYP19A1, CYP1A2, DAPK2, DET1, DIS3L, DISP2, DKFZP779J2370, DUOX1, DUOX2, DUOXA2, DYX1C1, EFTUD1, EHD4, EIF2AK4, ELL3, ETFA, EXD1, FAM154B, FAM169B, FAM174B, FAM189A1, FAM214A, FAM81A, FAM96A, FAN1, FANCI, FBN1, FEM1B, FES, FMN1, FURIN, GABRA5, GABRB3, GABRG3, GANC, GATM, GCOM1, GDPGP1, GJD2, GLCE, GLDN, GOLGA6L2, GOLGA8A, GOLGA8B, GOLGA8I, HAPLN3, HCN4, HERC1, HERC2, HEXA, HYKK, IDH2, IDH3A, IGDCC3, IGDCC4, IGF1R, IGHV1OR15-9, IL16, IQCH, IREB2, ISG20, ISL2, ISLR, ITGA11, IVD, JMJD7-PLA2G4B, KBTBD13, KIAA1024, KIAA1199, KIF23, KIF7, KLF13, KNSTRN, LACTB, LDHAL6B, LINGO1, LINS, LIPC, LMAN1L, LOXL1, LRRC49, LRRK1, LYSMD4, MAN2A2, MAN2C1, MAPKBP1, MCTP2, MEF2A, MEGF11, MESP1, MESP2, MFGE8, MGA, MKRN3, MNS1, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, NARG2, NEDD4, NEO1, NIPA1, NOX5, NPAP1, NRG4, NTRK3, NUTM1, OAZ2, OCA2, ODF3L1, OR4M2, OR4N4, OTUD7A, PARP16, PATL2, PCSK6, PDE8A, PDIA3, PEAK1, PEX11A, PGPEP1L, PIAS1, PIF1, PLA2G4E, PLA2G4F, PLIN1, PML, POLG, PPCDC, PRC1, PSMA4, PSTPIP1, PTPLAD1, RASL12, RCCD1, RFX7, RGMA, RNF111, RORA, RP11-133K1.2, RP11-210M15.2, RP11-597K23.2, RPAP1, RYR3, SCAPER, SECISBP2L, SEMA6D, SENP8, SHF, SKOR1, SLC12A1, SLC12A6, SLC28A1, SLCO3A1, SMAD3, SNAP23, SNX1, SORD, SPATA5L1, SPG11, SPINT1, SPRED1, SPTBN5, SRP14, ST20, STARD9, STOML1, STRA6, SV2B, SYNM, TARSL2, TBC1D2B, THAP10, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TM2D3, TMC3, TMED3, TMEM87A, TPM1, TRIM69, TRIP4, TRPM1, TSPAN3, TTBK2, TTC23, TUBGCP5, TYRO3, UACA, UBE2Q2, UBR1, UNC13C, USP8, VPS13C, VPS33B, VPS39, VWA9, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFAND6, ZFYVE19, ZNF106, ZNF280D, ZNF592, ZNF609, ZNF710, ZSCAN2,

+ Genes associated with diseases 73

Genes at Omim

AAGAB, ACAN, ADAMTS17, AGBL1, ALPK3, AP4E1, BBS4, BUB1B, C15orf41, CAPN3, CDAN1, CERS3, CHD2, CHRNA3, CHRNA5, CHSY1, CILP, CYP19A1, DUOX2, DUOXA2, EIF2AK4, ETFA, FAN1, FANCI, FBN1, GABRB3, GATM, GLDN, HCN4, HERC1, HERC2, HEXA, IDH2, IGF1R, IVD, KBTBD13, KIF7, LINGO1, LIPC, LOXL1, MAPKBP1, MEF2A, MESP2, MKRN3, MYO1E, MYO5A, MYO9A, NIPA1, OCA2, PATL2, PLIN1, PML, POLG, PSTPIP1, RORA, SCAPER, SLC12A1, SLC12A6, SMAD3, SORD, SPG11, SPRED1, STRA6, TPM1, TRIP4, TRPM1, TTBK2, UBR1, USP8, VPS13C, VPS33B, WDR72, WDR73,

AAGAB	Keratoderma, palmoplantar, punctate type IA, 148600 (3)
ACAN	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17	Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALPK3	Cardiomyopathy, familial hypertrophic 27, 618052 (3)
AP4E1	Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3)
BBS4	Bardet-Biedl syndrome 4, 615982 (3)
BUB1B	Colorectal cancer, somatic, 114500 (3) Mosaic variegated aneuploidy syndrome 1, 257300 (3) [Premature chromatid separation trait], 176430 (3)
C15orf41	Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
CAPN3	Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3) Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)
CDAN1	Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CERS3	Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2	Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
CHRNA5	{Lung cancer susceptibility 2}, 612052 (3) {Nicotine dependence, susceptibility to}, 612052 (3)
CHSY1	Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1	Aromatase deficiency, 613546 (3) Aromatase excess syndrome, 139300 (3)
DUOX2	Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2	Thyroid dyshormonogenesis 5, 274900 (3)
EIF2AK4	Pulmonary venoocclusive disease 2, 234810 (3)
ETFA	Glutaric acidemia IIA, 231680 (3)
FAN1	Interstitial nephritis, karyomegalic, 614817 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FBN1	Geleophysic dysplasia 2, 614185 (3) Ectopia lentis, familial, 129600 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Acromicric dysplasia, 102370 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3)
GABRB3	Epileptic encephalopathy, early infantile, 43, 617113 (3) {Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
GATM	Cerebral creatine deficiency syndrome 3, 612718 (3)
GLDN	Lethal congenital contracture syndrome 11, 617194 (3)
HCN4	Brugada syndrome 8, 613123 (3) Sick sinus syndrome 2, 163800 (3)
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2	Mental retardation, autosomal recessive 38, 615516 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA	GM2-gangliosidosis, several forms, 272800 (3) Tay-Sachs disease, 272800 (3) [Hex A pseudodeficiency], 272800 (3)
IDH2	D-2-hydroxyglutaric aciduria 2, 613657 (3)
IGF1R	Insulin-like growth factor I, resistance to, 270450 (3)
IVD	Isovaleric acidemia, 243500 (3)
KBTBD13	Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7	Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3)
LINGO1	Mental retardation, autosomal recessive 64, 618103 (3)
LIPC	Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1	{Exfoliation syndrome, susceptibility to}, 177650 (3)
MAPKBP1	Nephronophthisis 20, 617271 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MKRN3	Precocious puberty, central, 2, 615346 (3)
MYO1E	Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A	Griscelli syndrome, type 1, 214450 (3)
MYO9A	Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NIPA1	Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2	Albinism, brown oculocutaneous, 203200 (3) Albinism, oculocutaneous, type II, 203200 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PATL2	Oocyte maturation defect 4, 617743 (3)
PLIN1	Lipodystrophy, familial partial, type 4, 613877 (3)
PML	Leukemia, acute promyelocytic, PML/RARA type (3)
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
PSTPIP1	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)
RORA	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SCAPER	Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SLC12A1	Bartter syndrome, type 1, 601678 (3)
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SMAD3	Loeys-Dietz syndrome 3, 613795 (3)
SORD	?Cataract, congenital (2)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1	Legius syndrome, 611431 (3)
STRA6	Microphthalmia, isolated, with coloboma 8, 601186 (3) Microphthalmia, syndromic 9, 601186 (3)
TPM1	Cardiomyopathy, dilated, 1Y, 611878 (3) Cardiomyopathy, hypertrophic, 3, 115196 (3) Left ventricular noncompaction 9, 611878 (3)
TRIP4	?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3) Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TTBK2	Spinocerebellar ataxia 11, 604432 (3)
UBR1	Johanson-Blizzard syndrome, 243800 (3)
USP8	Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VPS13C	Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
VPS33B	Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72	Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73	Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

AAGAB, ACAN, ADAMTS17, AGBL1, AP4E1, BBS4, BUB1B, CAPN3, CDAN1, CERS3, CHD2, CHSY1, CYP19A1, CYP1A2, DUOX2, DUOXA2, DYX1C1, EIF2AK4, ETFA, FAN1, FANCI, FBN1, GABRB3, GATM, HCN4, HERC2, HEXA, IDH2, IGF1R, IVD, KBTBD13, KIF7, LIPC, MESP2, MKRN3, MYO1E, MYO5A, NIPA1, OCA2, PLIN1, POLG, PSTPIP1, SLC12A1, SLC12A6, SMAD3, SPG11, SPRED1, STRA6, TPM1, TRIP4, TRPM1, TTBK2, UBR1, VPS13C, VPS39, WDR72, WDR73, ZNF592,

AAGAB	Keratoderma, palmoplantar, punctate type IA
ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17	Weill-Marchesani-like syndrome
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
AP4E1	Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive
BBS4	Bardet-Biedl syndrome 4
BUB1B	Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
CAPN3	Muscular dystrophy, limb-girdle, type 2A Eosinophilic myositis
CDAN1	Anemia, dyserythropoietic congenital, type Ia
CERS3	Ichthyosis, congenital, autosomal recessive 9
CHD2	Epileptic encephalopathy, childhood-onset
CHSY1	Temtamy preaxial brachydactyly syndrome
CYP19A1	Aromatase deficiency
CYP1A2	CYP1A2-related drug metabolism
DUOX2	Thyroid dyshormonogenesis 6
DUOXA2	Thyroid dyshormonogenesis 5
DYX1C1	Ciliary dyskinesia, primary 25
EIF2AK4	Pulmonary venoocclusive disease 2
ETFA	Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II
FAN1	Interstitial nephritis, karyomegalic
FANCI	Fanconi anemia, complementation group I
FBN1	Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome
GABRB3	Epilepsy, childhood absence, susceptibility to, 5
GATM	Cerebral creatine deficiency syndrome 3
HCN4	Brugada syndrome 8 Sick sinus syndrome 2
HERC2	Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38
HEXA	Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency
IDH2	D-2-hydroxyglutaric aciduria 2
IGF1R	Insulin-like growth factor I, resistance to
IVD	Isovaleric acidemia
KBTBD13	Nemaline myopathy 6
KIF7	Hydrolethalus syndrome 2 Acrocallosal syndrome Joubert syndrome 12 Al-Gazali-Bakalinova syndrome
LIPC	Hepatic lipase deficiency
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MKRN3	Central precocious puberty
MYO1E	Focal segmental glomerulosclerosis 6
MYO5A	Griscelli syndrome, type 1
NIPA1	Spastic paraplegia 6
OCA2	Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Skin/hair/eye pigmentation 1
PLIN1	Lipodystrophy, familial partial, type 4
POLG	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders
PSTPIP1	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne
SLC12A1	Bartter syndrome, antenatal, type 1
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SMAD3	Aneurysms-osteoarthritis syndrome Loeys-Dietz syndrome, type 3
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
SPRED1	Legius syndrome
STRA6	Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8
TPM1	Cardiomyopathy, dilated, 1Y Cardiomyopathy, familial hypertrophic, 3
TRIP4	Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1	Night blindness, congenital stationary, type 1C
TTBK2	Spinocerebellar ataxia 11
UBR1	Johanson-Blizzard syndrome
VPS13C	Parkinson disease 23, autosomal recessive, early onset
VPS39	Schizophrenia
WDR72	Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73	Galloway-Mowat syndrome
ZNF592	Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 2803
Number of Genes: 278

Export to: CSV

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AAGAB
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs7173826 dbSNP Clinvar	67528374	2100.77	T	G	PASS	0/1	169	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.36342	0.36340	0.25390	0.48	0.02		None None	None None None None	AAGAB\|0.101167866\|50.94%
ABHD17C
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs62007944 dbSNP Clinvar	80987812	619.77	T	C	PASS	1/1	22	SYNONYMOUS_CODING	LOW	SILENT	0.97744	0.97740	0.01825				None None	None None None None	ABHD17C\|0.053788984\|61.53%
ACAN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs3743399 dbSNP Clinvar	89398330	2759.77	G	A	PASS	1/1	82	SYNONYMOUS_CODING	LOW	SILENT	0.00040	0.75900	0.13242				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs938609 dbSNP Clinvar	89398631	2641.77	T	A	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.39217	0.39220	0.43306	0.07	0.78		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs1042630 dbSNP Clinvar	89402051	1296.77	A	G	PASS	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.64597	0.64600	0.26503	0.20	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs1042631 dbSNP Clinvar	89402239	3438.77	T	C	PASS	1/1	108	SYNONYMOUS_CODING	LOW	SILENT	0.73642	0.73640	0.18514				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs3743398 dbSNP Clinvar	89398407	1386.77	C	T	PASS	0/1	82	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.08167	0.08167	0.14704	0.04	0.97		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs3817428 dbSNP Clinvar	89415247	4370.77	C	G	PASS	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11422	0.11420	0.20206	0.00	0.29		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs2272023 dbSNP Clinvar	89391160	940.77	C	A	PASS	1/1	30	SYNONYMOUS_CODING	LOW	SILENT	0.69429	0.69430	0.20369				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs938608 dbSNP Clinvar	89398605	3349.77	G	T	PASS	1/1	82	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.45268	0.45270	0.40313	0.01	0.84		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs2351491 dbSNP Clinvar	89398105	2763.77	C	T	PASS	1/1	82	SYNONYMOUS_CODING	LOW	SILENT	0.35004	0.35000	0.47549				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs3825994 dbSNP Clinvar	89401615	2128.77	T	G	PASS	1/1	66	SYNONYMOUS_CODING	LOW	SILENT	0.53255	0.53250	0.35216				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs4932439 dbSNP Clinvar	89401109	3443.77	A	G	PASS	1/1	114	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.76038	0.76040	0.13224	1.00	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs2882676 dbSNP Clinvar	89400339	1154.77	A	C	PASS	1/1	36	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.42412	0.42410	0.43105	0.19	0.24		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs698621 dbSNP Clinvar	89402596	3167.77	T	G	PASS	1/1	100	SYNONYMOUS_CODING	LOW	SILENT	0.45148	0.45150	0.45219				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	dg001 final	15	rs1568116 dbSNP Clinvar	89392745	1507.77	T	C	PASS	1/1	46	SYNONYMOUS_CODING	LOW	SILENT	0.99561	0.99560	0.00990				None None	None None None None	ACAN\|0.017538305\|75.58%
ACSBG1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs2304824 dbSNP Clinvar	78466127	464.77	T	C	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.52676	0.52680	0.43674	0.87	0.00		None None	None None None None	ACSBG1\|0.055446923\|61.08%
ADAMTS17
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs4965583 dbSNP Clinvar	100636586	572.77	G	A	PASS	0/1	40	SYNONYMOUS_CODING	LOW	SILENT	0.26378	0.26380	0.16569				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	dg001 final	15	rs4965613 dbSNP Clinvar	100801698	302.77	G	A	PASS	0/1	22	SYNONYMOUS_CODING	LOW	SILENT	0.69209	0.69210	0.32600				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	dg001 final	15	rs2573652 dbSNP Clinvar	100514614	840.77	T	C	PASS	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.67951	0.67950	0.28556	1.00	0.00		None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	dg001 final	15	rs12907333 dbSNP Clinvar	100672237	2268.77	T	G	PASS	1/1	73	SYNONYMOUS_CODING	LOW	SILENT	0.99760	0.99760	0.00162				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	dg001 final	15	rs4369638 dbSNP Clinvar	100794363	1858.77	C	T	PASS	1/1	54	SYNONYMOUS_CODING	LOW	SILENT	0.82149	0.82150	0.25465				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
ADAMTS7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs3743057 dbSNP Clinvar	79089007	2045.77	T	C	PASS	1/1	73	SYNONYMOUS_CODING	LOW	SILENT	0.79253	0.79250	0.25304				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs3825807 dbSNP Clinvar	79089111	254.78	A	G	PASS	1/1	8	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.25020	0.25020	0.34649	0.40	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs7173267 dbSNP Clinvar	79092750	2028.77	G	C	PASS	1/1	62	SYNONYMOUS_CODING	LOW	SILENT	0.24860	0.24860	0.32778				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs1809421 dbSNP Clinvar	79058572	252.8	T	G	PASS	1/1	7	SYNONYMOUS_CODING	LOW	SILENT	0.00080	0.00080	0.06722				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs1809422 dbSNP Clinvar	79058923	105.03	G	A	PASS	1/1	4	SYNONYMOUS_CODING	LOW	SILENT	0.94768	0.94770	0.02360				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs28699256 dbSNP Clinvar	79058951	62.28	T	C	PASS	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.27177	0.27180	0.36795	0.68	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs11635931 dbSNP Clinvar	79064080	317.77	G	A	PASS	1/1	12	SYNONYMOUS_CODING	LOW	SILENT	0.18610	0.18610	0.31892				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs11635870 dbSNP Clinvar	79064143	481.77	C	G	PASS	1/1	16	SYNONYMOUS_CODING	LOW	SILENT	0.18610	0.18610	0.31877				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs11854507 dbSNP Clinvar	79069121	1037.77	A	G	PASS	1/1	37	SYNONYMOUS_CODING	LOW	SILENT	0.25340	0.25340	0.33291				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	dg001 final	15	rs7495616 dbSNP Clinvar	79054900	306.77	C	G	PASS	1/1	11	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.66653	0.66650	0.26927	1.00	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
ADAMTSL3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs12439867 dbSNP Clinvar	84581889	2137.77	G	A	PASS	1/1	47	SYNONYMOUS_CODING	LOW	SILENT	0.38638	0.38640	0.28833				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	dg001 final	15	rs4842923 dbSNP Clinvar	84581904	2436.77	T	C	PASS	1/1	58	SYNONYMOUS_CODING	LOW	SILENT	0.68610	0.68610	0.38175				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	dg001 final	15	rs7176737 dbSNP Clinvar	84651290	2081.77	T	C	PASS	1/1	58	SYNONYMOUS_CODING	LOW	SILENT	0.86921	0.86920	0.16600				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	dg001 final	15	rs4483821 dbSNP Clinvar	84488636	399.77	A	G	PASS	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.67931	0.67930	0.43749	0.57	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	dg001 final	15	rs4144691 dbSNP Clinvar	84539619	1003.77	C	G	PASS	1/1	31	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.80751	0.80750	0.15170	1.00	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	dg001 final	15	rs4842838 dbSNP Clinvar	84582124	1602.77	G	T	PASS	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.68570	0.68570	0.38182	1.00	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
ADPGK
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs11634630 dbSNP Clinvar	73067234	3609.77	T	C	PASS	1/1	122	SYNONYMOUS_CODING	LOW	SILENT	0.96006	0.96010	0.03962				None None	None None None None	ADPGK\|0.134394275\|45.22%
AEN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs3743475 dbSNP Clinvar	89172558	2075.77	G	C	PASS	1/1	62	SYNONYMOUS_CODING	LOW	SILENT	0.75240	0.75240	0.19457				None None	None None None None	AEN\|0.108873578\|49.4%
	View	dg001 final	15	rs8027765 dbSNP Clinvar	89169858	4762.77	A	G	PASS	1/1	153	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.75839	0.75840	0.18626	1.00	0.00		None None	None None None None	AEN\|0.108873578\|49.4%
	View	dg001 final	15	rs3743476 dbSNP Clinvar	89169614	201.77	A	G	PASS	0/1	29	SYNONYMOUS_CODING	LOW	SILENT	0.19788	0.19790	0.26836				None None	None None None None	AEN\|0.108873578\|49.4%
	View	dg001 final	15	rs201216207 dbSNP Clinvar	89173360	1466.77	G	A	PASS	0/1	102	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	AEN\|0.108873578\|49.4%
AGBL1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs9630451 dbSNP Clinvar	86838497	590.77	C	T	PASS	0/1	60	SYNONYMOUS_CODING	LOW	SILENT	0.17851	0.17850	0.15089				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs8028043 dbSNP Clinvar	87217613	1655.77	A	G	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.89217	0.89220	0.11030	1.00	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs4362360 dbSNP Clinvar	86940622	797.77	T	C	PASS	0/1	56	SYNONYMOUS_CODING	LOW	SILENT	0.74421	0.74420	0.39279				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs1353578 dbSNP Clinvar	86800209	668.77	C	T	PASS	0/1	48	SYNONYMOUS_CODING	LOW	SILENT	0.53974	0.53970	0.35463				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs1566088 dbSNP Clinvar	86806029	1406.77	C	T	PASS	0/1	119	SYNONYMOUS_CODING	LOW	SILENT			0.30818				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs10520618 dbSNP Clinvar	86807761	1427.77	A	G	PASS	0/1	111	SYNONYMOUS_CODING	LOW	SILENT	0.50539	0.50540	0.47409				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs11858435 dbSNP Clinvar	86814866	649.77	A	G	PASS	0/1	61	SYNONYMOUS_CODING	LOW	SILENT	0.68211	0.68210	0.26808				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	dg001 final	15	rs1006030 dbSNP Clinvar	87531281	1804.77	A	C	PASS	1/1	65	SYNONYMOUS_CODING	LOW	SILENT	0.82069	0.82070	0.19396				None None	None None None None	AGBL1\|0.082073978\|54.74%
AKAP13
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs7162168 dbSNP Clinvar	86124946	1373.77	T	C	PASS	0/1	128	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58267	0.58270	0.37302	0.72	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4843075 dbSNP Clinvar	86124555	1329.77	G	A	PASS	0/1	80	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58127	0.58130	0.37364	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs16943792 dbSNP Clinvar	86284342	336.77	C	T	PASS	0/1	28	SYNONYMOUS_CODING	LOW	SILENT	0.23662	0.23660	0.17767				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs2291049 dbSNP Clinvar	86087309	2572.77	T	C	PASS	1/1	80	None	None	None	0.74421	0.74420					None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs2061821 dbSNP Clinvar	86122654	256.77	T	C	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58307	0.58310	0.37287	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs2061822 dbSNP Clinvar	86122779	399.77	T	C	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.59625	0.59620	0.35095	0.09	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs2061823 dbSNP Clinvar	86122916	760.77	T	C	PASS	0/1	51	SYNONYMOUS_CODING	LOW	SILENT	0.58327	0.58330	0.37356				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs2061824 dbSNP Clinvar	86123019	715.77	C	T	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58307	0.58310	0.37325	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs7177107 dbSNP Clinvar	86123364	1188.77	G	A	PASS	0/1	89	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07608	0.07608	0.16205	0.65	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4075256 dbSNP Clinvar	86123833	565.77	T	C	PASS	0/1	34	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00060	0.58210	0.37417	1.00	0.00		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4075255 dbSNP Clinvar	86123924	602.77	C	T	PASS	0/1	40	SYNONYMOUS_CODING	LOW	SILENT	0.58227	0.58230	0.37379				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4075254 dbSNP Clinvar	86123988	712.77	G	A	PASS	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58207	0.58210	0.37356	0.14	0.02		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4843073 dbSNP Clinvar	86124419	673.77	C	T	PASS	0/1	59	SYNONYMOUS_CODING	LOW	SILENT	0.58147	0.58150	0.37371				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs7178065 dbSNP Clinvar	86125031	1169.77	G	A	PASS	0/1	107	SYNONYMOUS_CODING	LOW	SILENT	0.57668	0.57670	0.37471				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs4843074 dbSNP Clinvar	86124483	704.77	C	G	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.58187	0.58190	0.37410	0.16	0.16		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	dg001 final	15	rs11633087 dbSNP Clinvar	86124968	1193.77	G	A	PASS	0/1	123	SYNONYMOUS_CODING	LOW	SILENT	0.57568	0.57570	0.38048				None None	None None None None	AKAP13\|0.042148693\|65.04%
ALDH1A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs72739147 dbSNP Clinvar	58571401	1294.77	A	T	PASS	0/1	105	None	None	None	0.12260	0.12260		0.01	0.00		None None	None None None None	ALDH1A2\|0.864934326\|4.39%
ALPK3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs167379 dbSNP Clinvar	85401419	1827.77	T	C	PASS	1/1	62	SYNONYMOUS_CODING	LOW	SILENT	0.84784	0.84780	0.16228				None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	dg001 final	15	rs306197 dbSNP Clinvar	85401259	1206.77	C	T	PASS	1/1	35	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.80471	0.80470	0.21088	0.84	0.00		None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	dg001 final	15	rs11857356 dbSNP Clinvar	85360101	1268.77	T	C	PASS	1/1	38	SYNONYMOUS_CODING	LOW	SILENT	0.86482	0.86480	0.14436				None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	dg001 final	15	rs3803406 dbSNP Clinvar	85383839	1267.77	G	A	PASS	1/1	35	SYNONYMOUS_CODING	LOW	SILENT	0.74361	0.74360	0.32490				None None	None None None None	ALPK3\|0.009711296\|81.06%
ANKRD63
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs4924446 dbSNP Clinvar	40573716	709.77	A	G	PASS	1/1	22	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.99701	0.99700		1.00	0.00		None None	None None None None	PLCB2\|0.161252195\|41.37%,ANKRD63\|0.046527849\|63.73%
ANPEP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs25651 dbSNP Clinvar	90335788	908.77	C	T	PASS	0/1	73	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.35064	0.35060	0.37537	1.00	0.00		None None	None None None None	ANPEP\|0.009750059\|81.03%
	View	dg001 final	15	rs25654 dbSNP Clinvar	90334240	780.77	A	G	PASS	0/1	78	SYNONYMOUS_CODING	LOW	SILENT	0.31350	0.31350	0.33221				None None	None None None None	ANPEP\|0.009750059\|81.03%
	View	dg001 final	15	rs25652 dbSNP Clinvar	90335534	1339.77	G	A	PASS	0/1	128	SYNONYMOUS_CODING	LOW	SILENT	0.25220	0.25220	0.26219				None None	None None None None	ANPEP\|0.009750059\|81.03%
ANXA2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs12904657 dbSNP Clinvar	60690089	568.77	A	G	PASS	1/1	18	SYNONYMOUS_CODING	LOW	SILENT	0.79433	0.79430	0.25341				None None	None None None None	ANXA2\|0.820928885\|5.29%
	View	dg001 final	15	rs4775262 dbSNP Clinvar	60666686	1493.77	C	T	PASS	0/1	127	None	None	None	0.09645	0.09645					None None	None None None None	ANXA2\|0.820928885\|5.29%
AP4E1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs2306331 dbSNP Clinvar	51217361	905.77	T	C	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.44090	0.44090	0.43713	1.00	0.00		None None	None None None None	AP4E1\|0.148213005\|43.26%
	View	dg001 final	15	rs3825798 dbSNP Clinvar	51294832	640.77	G	A	PASS	0/1	42	SYNONYMOUS_CODING	LOW	SILENT	0.20407	0.20410	0.18963				None None	None None None None	AP4E1\|0.148213005\|43.26%
APH1B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs61751105 dbSNP Clinvar	63594660	543.77	G	T	PASS	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00799	0.00799	0.00969	0.04	0.04		None None	None None None None	APH1B\|0.082709624\|54.64%
AQP9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs2249783 dbSNP Clinvar	58471368	245.77	C	T	PASS	0/1	13	SYNONYMOUS_CODING	LOW	SILENT	0.83646	0.83650	0.09948				None None	None None None None	ALDH1A2\|0.864934326\|4.39%,AQP9\|0.053776428\|61.54%
	View	dg001 final	15	rs1867380 dbSNP Clinvar	58476281	797.77	A	G	PASS	0/1	49	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.84285	0.84290	0.09940	1.00	0.00		None None	None None None None	ALDH1A2\|0.864934326\|4.39%,AQP9\|0.053776428\|61.54%
AQR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs8035240 dbSNP Clinvar	35149008	3454.77	C	T	PASS	1/1	106	SYNONYMOUS_CODING	LOW	SILENT	0.97744	0.97740	0.02611				None None	None None None None	AQR\|0.159778967\|41.59%
	View	dg001 final	15	rs9920529 dbSNP Clinvar	35256624	1189.77	C	G	PASS	1/1	35	None	None	None	0.70088	0.70090					None None	None None None None	AQR\|0.159778967\|41.59%
ARRDC4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs12101554 dbSNP Clinvar	98504326	137.77	A	G	PASS	0/1	8	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.76218	0.76220	0.26056	0.32	0.00		None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	dg001 final	15	rs2130882 dbSNP Clinvar	98513845	385.77	T	C	PASS	0/1	32	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.41913	0.41910	0.37514	0.17	0.88		None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	dg001 final	15	rs61747226 dbSNP Clinvar	98512431	1286.77	C	T	PASS	0/1	91	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01577	0.01577	0.03203	0.01	1.00		None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	dg001 final	15	rs146146673 dbSNP Clinvar	98509167	1992.77	G	C	PASS	0/1	166	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00180	0.00180	0.00470	0.01	0.50		None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	dg001 final	15	rs4965046 dbSNP Clinvar	98504100	266.77	G	C	PASS	0/1	19	SYNONYMOUS_CODING	LOW	SILENT	0.76238	0.76240	0.23067				None None	None None None None	ARRDC4\|0.053899861\|61.5%
ATP10A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs2076743 dbSNP Clinvar	25926186	1071.77	G	A	PASS	0/1	42	SYNONYMOUS_CODING	LOW	SILENT	0.67792	0.67790	0.31993				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	dg001 final	15	rs2076744 dbSNP Clinvar	25926179	1068.77	C	T	PASS	0/1	43	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.28215	0.28210	0.24735	0.06	0.10		None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	dg001 final	15	rs10873607 dbSNP Clinvar	25961964	3595.77	A	G	PASS	1/1	126	SYNONYMOUS_CODING	LOW	SILENT	0.99221	0.99220	0.00600				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	dg001 final	15	rs1047700 dbSNP Clinvar	25924539	268.77	T	C	PASS	0/1	43	SYNONYMOUS_CODING	LOW	SILENT	0.26637	0.26640	0.22836				None None	None None None None	ATP10A\|0.032097365\|68.57%
ATP8B4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs4774549 dbSNP Clinvar	50152583	1742.77	G	T	PASS	1/1	51	SYNONYMOUS_CODING	LOW	SILENT	1.00000	1.00000					None None	None None None None	ATP8B4\|0.392767287\|21.21%
	View	dg001 final	15	rs138799625 dbSNP Clinvar	50264839	1663.77	C	T	PASS	0/1	144	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00220	0.00220	0.00593	0.01	1.00		None None	None None None None	ATP8B4\|0.392767287\|21.21%
AVEN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs61729119 dbSNP Clinvar	34159941	827.77	T	G	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01018	0.01018	0.02739	0.05	0.24		None None	None None None None	AVEN\|0.037575836\|66.59%
BAHD1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs3803357 dbSNP Clinvar	40751555	952.77	C	A	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.67572	0.67570	0.41450	0.01	0.02		None None	None None None None	BAHD1\|0.194465075\|37.34%
BBS4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	dg001 final	15	rs2277598 dbSNP Clinvar	73027478	840.77	T	C	PASS	1/1	23	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.42891	0.42890	0.46728	0.48	0.00		None None	None None None None	BBS4\|0.334154614\|25.16%
	View	dg001 final	15	rs12914333 dbSNP Clinvar	73023937	5164.77	T	C	PASS	1/1	152	SYNONYMOUS_CODING	LOW	SILENT	0.96046	0.96050	0.04396				None None	None None None None	BBS4\|0.334154614\|25.16%

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+ Genes 278

+ Genes associated with diseases 73

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AAGAB

ABHD17C

ACAN

ACSBG1

ADAMTS17

ADAMTS7

ADAMTSL3

ADPGK

AEN

AGBL1

AKAP13

ALDH1A2

ALPK3

ANKRD63

ANPEP

ANXA2

AP4E1

APH1B

AQP9

AQR

ARRDC4

ATP10A

ATP8B4

AVEN

BAHD1

BBS4

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