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Genes:
ACIN1, ACOT2, ACOT4, ACOT6, ACYP1, ADAM21, ADCK1, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL133373.1, AL139099.1, AL391152.1, ANG, APOPT1, ARHGEF40, ARID4A, ASB2, ATG14, ATG2B, ATL1, ATXN3, BAZ1A, BCL11B, BCL2L2-PABPN1, BDKRB1, BDKRB2, BMP4, BRF1, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf177, C14orf182, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CHD8, CHGA, CINP, CKB, CMA1, COCH, COQ6, CPNE6, CTAGE5, DAAM1, DACT1, DCAF4, DDHD1, DEGS2, DHRS1, DHRS7, DIO2, DKFZP434O1614, DLGAP5, DLK1, DLST, DNAAF2, DPF3, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, ELMSAN1, EML1, EML5, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM181A, FBLN5, FBXO34, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-46, IGHV1-58, IGHV1-69, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-16, IGHV3-20, IGHV3-21, IGHV3-30, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV3-73, IGHV4-28, IGHV4-31, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-51, IGHV6-1, IGHV7-81, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, KCNH5, KCNK10, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGALS3, LGMN, LRRC16B, LRRC9, LTBP2, MAP3K9, MARK3, MBIP, MDGA2, MLH3, MMP14, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NOXRED1, NRDE2, NRXN3, NUDT14, OR10G3, OR11G2, OR11H12, OR11H6, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEKHG3, PLEKHH1, PNN, POMT2, POTEG, POTEM, PPP1R13B, PPP1R36, PPP2R5E, PPP4R4, PRIMA1, PRKCH, PRKD1, PSMB5, PSMC1, PSME2, PTGDR, PTGR2, PTPN21, PYGL, RABGGTA, RAD51B, RALGAPA1, RBM23, RBM25, REC8, RIN3, RNASE13, RNASE4, RNASE8, RNASE9, RP11-131H24.4, RP11-187E13.1, RP11-80A15.1, RP11-998D10.1, RPGRIP1, RPS6KL1, RTL1, RTN1, SALL2, SAMD15, SAV1, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SFTA3, SIPA1L1, SIX1, SIX4, SIX6, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMEK1, SMOC1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDP1, TDRD9, TECPR2, TEP1, TGM1, TM9SF1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAF3, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAV1-1, TRAV13-2, TRAV14DV4, TRAV20, TRAV23DV6, TRAV26-1, TRAV27, TRAV35, TRAV36DV7, TRAV38-1, TRAV4, TRAV6, TRAV8-3, TRAV8-7, TRDV2, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, UBR7, UNC79, VASH1, VRK1, VSX2, WARS, WDHD1, WDR25, XRCC3, YLPM1, ZBTB1, ZBTB42, ZC2HC1C, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410,

+ Genes associated with diseases 77

Genes at Omim

AK7, ANG, APOPT1, ATL1, ATXN3, BCL11B, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PTGDR, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDP1, TDRD9, TECPR2, TGM1, TMEM260, TRAF3, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,

AK7	?Spermatogenic failure 27, 617965 (3)
ANG	Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1	Mitochondrial complex IV deficiency, 220110 (3)
ATL1	Neuropathy, hereditary sensory, type ID, 613708 (3) Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
BCL11B	Immunodeficiency 49, 617237 (3) Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)
BMP4	Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3)
BRF1	Cerebellofaciodental syndrome, 616202 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (3)
COQ6	Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1	?Townes-Brocks syndrome 2, 617466 (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3) Mental retardation, autosomal dominant 13, 614563 (3) Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1	Band heterotopia, 600348 (3)
ESR2	?Ovarian dysgenesis 8, 618187 (3)
ESRRB	Deafness, autosomal recessive 35, 608565 (3)
FBLN5	Cutis laxa, autosomal dominant 2, 614434 (3) Cutis laxa, autosomal recessive, type IA, 219100 (3) Macular degeneration, age-related, 3, 608895 (3) Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8	Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC	Krabbe disease, 245200 (3)
GSTZ1	[Maleylacetoacetate isomerase deficiency], 617596 (3)
IGHG2	IgG2 deficiency, selective (3)
IGHM	Agammaglobulinemia 1, 601495 (3)
INF2	Glomerulosclerosis, focal segmental, 5, 613237 (3) Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586	Joubert syndrome 23, 616490 (3) Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH	L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3	?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3	Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3)
MMP14	?Winchester syndrome, 277950 (3)
MTHFD1	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6	Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3)
MYH7	Cardiomyopathy, dilated, 1S, 613426 (3) Cardiomyopathy, hypertrophic, 1, 192600 (3) Laing distal myopathy, 160500 (3) Left ventricular noncompaction 5, 613426 (3) Myopathy, myosin storage, autosomal dominant, 608358 (3) Myopathy, myosin storage, autosomal recessive, 255160 (3) Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9	Lethal congenital contracture syndrome 10, 617022 (3) Nevus comedonicus, somatic, 617025 (3) ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA	Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN	?Seckel syndrome 7, 614851 (3)
OSGEP	Galloway-Mowat syndrome 3, 617729 (3)
PAX9	Tooth agenesis, selective, 3, 604625 (3)
PCK2	PEPCK deficiency, mitochondrial, 261650 (1)
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH	{Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1	Congenital heart defects and ectodermal dysplasia, 617364 (3)
PTGDR	{Asthma, susceptibility to, 1}, 607277 (3)
PYGL	Glycogen storage disease VI, 232700 (3)
RPGRIP1	Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3)
SALL2	?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A	Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1	Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) Emphysema due to AAT deficiency, 613490 (3) Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3	Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3)
SIX1	Branchiootic syndrome 3, 608389 (3) Deafness, autosomal dominant 23, 605192 (3)
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4	Amelogenesis imperfecta, type IIA5, 615887 (3) [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3) [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMOC1	Microphthalmia with limb anomalies, 206920 (3)
SOS2	Noonan syndrome 9, 616559 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB	Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3) Elliptocytosis-3, 617948 (3) Spherocytosis, type 2, 616649 (3)
SPTLC2	Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TCL1B	Leukemia/lymphoma, T-cell (2)
TDP1	Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
TDRD9	?Spermatogenic failure 30, 618110 (3)
TECPR2	Spastic paraplegia 49, autosomal recessive, 615031 (3)
TGM1	Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TMEM260	Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRMT5	Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR	Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3)
TTLL5	Cone-rod dystrophy 19, 615860 (3)
VRK1	Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS	Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3	{Melanoma, cutaneous malignant, 6}, 613972 (3) {Breast cancer, susceptibility to}, 114480 (3)
ZBTB42	?Lethal congenital contracture syndrome 6, 616248 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ANG, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FBLN5, FLVCR2, GALC, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TDP1, TECPR2, TGM1, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,

ANG	Amyotrophic lateral sclerosis 9
APOPT1	Mitochondrial complex IV deficiency
ATL1	Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4	Microphthalmia, syndromic 6 Orofacial cleft 11
BRF1	Cerebellofaciodental syndrome
CCDC88C	Spinocerebellar ataxia 40
CHD8	Autism, susceptibility to 18
COCH	Deafness, autosomal dominant 9
COQ6	Coenzyme Q10 deficiency, primary 6
DNAAF2	Ciliary dyskinesia, primary, 10
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 2O Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB	Deafness, autosomal recessive 35
FBLN5	Macular degeneration, age-related 3 Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA
FLVCR2	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC	Krabbe disease
IGHM	Agammaglobulinemia 1
INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586	Joubert syndrome 23 Short rib thoracic dysplasia 14 with polydactyly
L2HGDH	L-2-hydroxyglutaric aciduria
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MLH3	Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma
MMP14	Winchester syndrome
MTHFD1	Severe combined immunodeficiency
MYH6	Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14
MYH7	Cardiomyopathy, dilated, 1S Cardiomyopathy, familial hypertrophic Myopathy, distal Myopathy, myosin storage, autosomal recessive
NFKBIA	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN	Seckel syndrome 7
PAX9	Tooth agenesis, selective, 3
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL	Glycogen storage disease VI
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
SALL2	Ocular coloboma
SEC23A	Craniolenticulosutural dysplasia
SERPINA1	Alpha-1-Antitrypsin deficiency
SERPINA6	Corticosteroid-binding globulin deficiency
SIX1	Deafness, autosomal dominant 23 Branchiootorenal syndrome 3 Branchiootic syndrome 3
SIX6	Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4	Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7	Lysinuric protein intolerance
SMOC1	Microphthalmia with limb anomalies
SOS2	Noonan syndrome 9
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB	Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TDP1	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TECPR2	Spastic paraplegia 49, autosomal recessive
TGM1	Ichthyosis, congenital, autosomal recessive 1
TRAF3	Herpes simplex encephalitis, susceptibility to, 3
TRMT5	Combined oxidative phosphorylation deficiency 26
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
TTLL5	Cone-rod dystrophy 19
VRK1	Pontocerebellar hypoplasia type 1A
VSX2	Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3
ZBTB42	Lethal congenital contracture syndrome 6
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 5365
Number of Genes: 386

Export to: CSV

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ACIN1
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	combined sample_95.variant40	14	rs941719 dbSNP Clinvar	23549379	4217.43	C	G	PASS	1/1	135	NON_SYNONYMOUS_CODING	MODERATE	None	0.99960	0.99960	0.00338		0.00		None None	None None None None	ACIN1\|0.717450786\|8.04%
ACOT2
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	combined sample_95.variant40	14	rs151154986 dbSNP Clinvar	74040136	1991.1	G	A	PASS	0/1	209	NON_SYNONYMOUS_CODING	MODERATE	None	0.01198	0.01198	0.02599	0.07	0.79		None None	None None None None	ACOT2\|0.010972761\|80.08%
	View	combined sample_95.variant40	14	rs149033118 dbSNP Clinvar	74041748	40.35	A	G	PASS	1/1	17	NON_SYNONYMOUS_CODING	MODERATE	None				0.30	0.00		None None	None None None None	ACOT2\|0.010972761\|80.08%
ACOT4
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	combined sample_95.variant40	14	rs2010070 dbSNP Clinvar	74061968	3603.1	T	C	PASS	1/1	262	SYNONYMOUS_CODING	LOW	None	0.86182	0.86180	0.20060				None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	combined sample_95.variant40	14	rs375801976 dbSNP Clinvar	74060513	241.15	GCTTA	G	PASS	1/1	34	FRAME_SHIFT	HIGH	None			0.07753				None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	combined sample_95.variant40	14	rs35724886 dbSNP Clinvar	74060508	247.19	C	A	PASS	1/1	31	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.07428	0.07428	0.07022	0.00	1.00		None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	combined sample_95.variant40	14	rs373880503 dbSNP Clinvar	74060511	241.16	T	TTCAA	PASS	1/1	35	FRAME_SHIFT	HIGH	None	0.00120	0.00120					None None	None None None None	ACOT4\|0.025540514\|71.55%
ACOT6
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	combined sample_95.variant40	14	rs17782052 dbSNP Clinvar	74086415	1571.23	G	A	PASS	0/1	148	NON_SYNONYMOUS_CODING	MODERATE	None	0.02356	0.02356	0.06297	1.00	0.01		None None	None None None None	ACOT6\|0.10045383\|51.07%
ACYP1
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	combined sample_95.variant40	14	rs175499 dbSNP Clinvar	75535927	3975.41	G	A	PASS	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None	0.33786	0.33790		0.36	0.00		None None	None None None None	ACYP1\|0.151950805\|42.69%,ZC2HC1C\|0.014803049\|77.29%
ADAM21
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	combined sample_95.variant40	14	rs3829455 dbSNP Clinvar	70924852	2139.76	A	C	PASS	1/1	65	SYNONYMOUS_CODING	LOW	None	0.44070	0.44070	0.36028				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs3751523 dbSNP Clinvar	70924462	1922.08	A	G	PASS	1/1	34	SYNONYMOUS_CODING	LOW	None			0.19437				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs72735759 dbSNP Clinvar	70924602	788.14	T	G	PASS	1/1	96	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.49		None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs12436346 dbSNP Clinvar	70925257	1795.25	A	G	PASS	1/1	29	SYNONYMOUS_CODING	LOW	None			0.02736				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs8010994 dbSNP Clinvar	70924501	1591.15	C	G	PASS	1/1	32	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.00		None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs72735760 dbSNP Clinvar	70925501	4147.87	G	C	PASS	1/1	331	NON_SYNONYMOUS_CODING	MODERATE	None	0.01757	0.01757	0.03621	0.32	0.02		None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs747032678 dbSNP Clinvar	70925669	2980.84	C	T	PASS	0/1	263	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs2022624 dbSNP Clinvar	70925818	2077.46	T	C	PASS	1/1	55	SYNONYMOUS_CODING	LOW	None	0.74301	0.74300					None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs58247196 dbSNP Clinvar	70924450	388.46	C	T	PASS	1/1	42	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	combined sample_95.variant40	14	rs45466397 dbSNP Clinvar	70925863	966.17	A	C	PASS	1/1	51	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
ADCK1
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	combined sample_95.variant40	14	rs734654 dbSNP Clinvar	78366967	1972.9	A	G	PASS	1/1	174	None	None	None	0.39177	0.39180					None None	None None None None	ADCK1\|0.142961952\|44%
	View	combined sample_95.variant40	14	rs3837641,rs779085049,rs3082719 dbSNP Clinvar	78366933	2502.89	G	GAAC	PASS	1/1	129	None	None	None	0.37061	0.37060					None None	None None None None	ADCK1\|0.142961952\|44%
AE000662.92
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	combined sample_95.variant40	14	rs74036418 dbSNP Clinvar	23025946	687.56	C	T	PASS	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.13199	0.13200			0.00		None None	None None None None	None
	View	combined sample_95.variant40	14	rs12888861 dbSNP Clinvar	23025932	387.63	A	T	PASS	0/1	38	SYNONYMOUS_CODING	LOW	None	0.62840	0.62840					None None	None None None None	None
AHNAK2
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	combined sample_95.variant40	14	rs61421370 dbSNP Clinvar	105406372	2152.87	C	T	PASS	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.29313	0.29310	0.42651		0.04		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28454709 dbSNP Clinvar	105405942	2598.63	G	A	PASS	0/1	176	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41459				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs3742935 dbSNP Clinvar	105405599	1522.13	G	C	PASS	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	None	0.55511	0.55510	0.41569		0.73		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs201127689 dbSNP Clinvar	105415279	996.12	T	C	PASS	0/1	384	NON_SYNONYMOUS_CODING	MODERATE	None	0.12620	0.12620			0.19		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28714612 dbSNP Clinvar	105412009	437.98	A	G	PASS	0/1	288	NON_SYNONYMOUS_CODING	MODERATE	None	0.38518	0.38520			0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819422 dbSNP Clinvar	105408955	9909.74	A	G	PASS	0/1	601	NON_SYNONYMOUS_CODING	MODERATE	None	0.58067	0.58070	0.39517		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11850949 dbSNP Clinvar	105408827	13859.6	A	C	PASS	0/1	605	NON_SYNONYMOUS_CODING	MODERATE	None	0.53075	0.53080	0.43830		0.05		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819421 dbSNP Clinvar	105408811	13191.3	A	G	PASS	0/1	614	NON_SYNONYMOUS_CODING	MODERATE	None	0.55511	0.55510	0.41776		0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28600075 dbSNP Clinvar	105408315	7623.29	T	C	PASS	0/1	435	SYNONYMOUS_CODING	LOW	None	0.55551	0.55550	0.41384				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs9672139 dbSNP Clinvar	105408182	9177.76	T	G	PASS	0/1	544	NON_SYNONYMOUS_CODING	MODERATE	None	0.52756	0.52760	0.44488		0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs9671643 dbSNP Clinvar	105408030	8417.82	A	G	PASS	0/1	454	SYNONYMOUS_CODING	LOW	None	0.55551	0.55550	0.41507				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs4465542 dbSNP Clinvar	105407798	1886.5	T	C	PASS	0/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.55511	0.55510	0.41678		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11851053 dbSNP Clinvar	105407208	1028.78	T	C	PASS	0/1	84	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41696				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11623422 dbSNP Clinvar	105407031	1810.8	A	G	PASS	0/1	136	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41700				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819419 dbSNP Clinvar	105406238	2577.19	A	C	PASS	0/1	193	NON_SYNONYMOUS_CODING	MODERATE	None	0.59086	0.59090	0.38914		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs879209 dbSNP Clinvar	105421050	1571.76	T	G	PASS	0/1	87	SYNONYMOUS_CODING	LOW	None	0.30970	0.30970	0.41829				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs879210 dbSNP Clinvar	105420927	2700.92	A	G	PASS	0/1	182	SYNONYMOUS_CODING	LOW	None	0.31470	0.31470	0.42521				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11625007 dbSNP Clinvar	105418391	10490.8	C	T	PASS	0/1	612	NON_SYNONYMOUS_CODING	MODERATE	None			0.48587		0.05		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs55791176 dbSNP Clinvar	105418344	9792.25	T	G	PASS	0/1	541	NON_SYNONYMOUS_CODING	MODERATE	None	0.00180	0.00180	0.48995		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819441 dbSNP Clinvar	105418275	4471.81	T	C	PASS	0/1	423	SYNONYMOUS_CODING	LOW	None	0.00938	0.02336	0.24517				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs55650155 dbSNP Clinvar	105418264	6392.05	G	A	PASS	1/1	416	NON_SYNONYMOUS_CODING	MODERATE	None	0.38299	0.38300	0.42877		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs56330864 dbSNP Clinvar	105418260	8886.49	T	A	PASS	1/1	413	SYNONYMOUS_CODING	LOW	None	0.00779	0.00779	0.41918				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs78447535 dbSNP Clinvar	105418194	2030.17	A	G	PASS	0/1	343	SYNONYMOUS_CODING	LOW	None	0.25240	0.25240					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs78116894 dbSNP Clinvar	105418166	1254.21	T	C	PASS	0/1	326	NON_SYNONYMOUS_CODING	MODERATE	None	0.29113	0.29110			0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs141600524 dbSNP Clinvar	105418155	626.59	G	C	PASS	0/1	320	SYNONYMOUS_CODING	LOW	None			0.08799				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs147978925 dbSNP Clinvar	105418149	228.86	A	T	PASS	0/1	319	SYNONYMOUS_CODING	LOW	None	0.23363	0.23360					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819440 dbSNP Clinvar	105417894	8128.96	C	G	PASS	1/1	205	NON_SYNONYMOUS_CODING	MODERATE	None	0.78355	0.78350	0.18114		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs77111827 dbSNP Clinvar	105417243	4021.77	T	C,G	PASS	0/1	387	SYNONYMOUS_CODING	LOW	None	0.01338	0.24120					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2248960 dbSNP Clinvar	105417228	5539.76	C	T	PASS	0/1	420	SYNONYMOUS_CODING	LOW	None	0.29533	0.29530	0.18996				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2894635 dbSNP Clinvar	105417225	5699.25	C	G	PASS	0/1	436	SYNONYMOUS_CODING	LOW	None	0.24281	0.24280					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2013274 dbSNP Clinvar	105417222	5748.13	C	T	PASS	0/1	451	SYNONYMOUS_CODING	LOW	None	0.22684	0.22680	0.17072				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2013445 dbSNP Clinvar	105417147	9492.13	A	G	PASS	0/1	566	SYNONYMOUS_CODING	LOW	None	0.42911	0.42910	0.46916				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs61996045 dbSNP Clinvar	105417103	17652.8	G	A	PASS	0/1	546	NON_SYNONYMOUS_CODING	MODERATE	None	0.28155	0.28150	0.41613		0.10		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2248966 dbSNP Clinvar	105417102	17652.8	T	C	PASS	0/1	545	SYNONYMOUS_CODING	LOW	None	0.55611	0.55610	0.39060				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2013462 dbSNP Clinvar	105416959	6385.93	A	G	PASS	0/1	315	NON_SYNONYMOUS_CODING	MODERATE	None	0.56889	0.56890	0.39068		0.04		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs71421895 dbSNP Clinvar	105416918	8622.34	T	C	PASS	0/1	300	NON_SYNONYMOUS_CODING	MODERATE	None	0.02097	0.02097	0.04999		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2582506 dbSNP Clinvar	105416685	13258.2	C	G	PASS	1/1	569	SYNONYMOUS_CODING	LOW	None	0.00220	0.00220	0.30909				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28593209 dbSNP Clinvar	105416649	12208.8	G	A	PASS	0/1	572	SYNONYMOUS_CODING	LOW	None	0.27696	0.27700	0.41438				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819435 dbSNP Clinvar	105416220	14618.9	T	A,G	PASS	1/1	696	NON_SYNONYMOUS_CODING	MODERATE	None	0.07528	0.72180	0.13588		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2582511 dbSNP Clinvar	105416010	12007.7	T	C	PASS	0/1	540	SYNONYMOUS_CODING	LOW	None	0.58347	0.58350	0.35749				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs118171013 dbSNP Clinvar	105415748	8758.88	G	A	PASS	0/1	413	NON_SYNONYMOUS_CODING	MODERATE	None	0.30032	0.30030	0.44101		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs117379881 dbSNP Clinvar	105415745	8698.12	C	G	PASS	0/1	414	NON_SYNONYMOUS_CODING	MODERATE	None	0.27716	0.27720	0.42009		0.88		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs12890949 dbSNP Clinvar	105415352	10804.2	G	C	PASS	1/1	348	NON_SYNONYMOUS_CODING	MODERATE	None	0.00519	0.00519	0.05832		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs57414669 dbSNP Clinvar	105415293	572.37	C	T	PASS	0/1	338	SYNONYMOUS_CODING	LOW	None	0.12041	0.12040					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs140868446 dbSNP Clinvar	105415290	746.2	A	C	PASS	0/1	345	SYNONYMOUS_CODING	LOW	None	0.02196	0.06789					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs146449084 dbSNP Clinvar	105415281	993.11	G	C	PASS	0/1	385	SYNONYMOUS_CODING	LOW	None	0.12660	0.12660					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10134675 dbSNP Clinvar	105415229	4211.63	T	C	PASS	0/1	514	NON_SYNONYMOUS_CODING	MODERATE	None	0.00140	0.28230			0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10145566 dbSNP Clinvar	105415200	5757.98	G	C	PASS	0/1	593	SYNONYMOUS_CODING	LOW	None	0.28994	0.28990	0.37128				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10145032 dbSNP Clinvar	105414810	13822.4	C	G	PASS	0/1	526	SYNONYMOUS_CODING	LOW	None	0.53235	0.53230	0.43901				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2582513 dbSNP Clinvar	105414790	13427.1	A	G	PASS	0/1	532	NON_SYNONYMOUS_CODING	MODERATE	None	0.56310	0.56310	0.41529		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs72702027 dbSNP Clinvar	105414629	10500.9	G	A	PASS	0/1	683	NON_SYNONYMOUS_CODING	MODERATE	None	0.53195	0.53190	0.43679		0.80		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819429 dbSNP Clinvar	105414280	10224.5	T	G	PASS	1/1	507	NON_SYNONYMOUS_CODING	MODERATE	None	0.84325	0.84330	0.10362		0.25		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs60106058 dbSNP Clinvar	105414252	13405.9	C	T	PASS	0/1	554	SYNONYMOUS_CODING	LOW	None	0.45487	0.45490	0.47157				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs60754080 dbSNP Clinvar	105414238	14029.5	C	A	PASS	0/1	580	NON_SYNONYMOUS_CODING	MODERATE	None	0.48023	0.48020	0.44926		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11848564 dbSNP Clinvar	105413790	6821.31	G	A	PASS	0/1	517	SYNONYMOUS_CODING	LOW	None	0.35044	0.35040	0.48287				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs55797226 dbSNP Clinvar	105413223	12042.0	A	G	PASS	0/1	589	SYNONYMOUS_CODING	LOW	None	0.52716	0.52720	0.44573				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2582514 dbSNP Clinvar	105413204	12070.1	G	T	PASS	0/1	578	NON_SYNONYMOUS_CODING	MODERATE	None	0.56709	0.56710	0.40549		0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs3000771 dbSNP Clinvar	105412561	5607.96	C	T	PASS	0/1	319	NON_SYNONYMOUS_CODING	MODERATE	None					0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs12436986 dbSNP Clinvar	105412554	5393.39	T	G	PASS	0/1	318	SYNONYMOUS_CODING	LOW	None	0.51498	0.51500	0.29044				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs12433815 dbSNP Clinvar	105412542	5013.42	A	G	PASS	0/1	327	SYNONYMOUS_CODING	LOW	None	0.51757	0.51760	0.26062				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs12433837 dbSNP Clinvar	105412541	4971.43	C	T	PASS	0/1	332	NON_SYNONYMOUS_CODING	MODERATE	None	0.51857	0.51860	0.26354		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs77154428 dbSNP Clinvar	105412066	314.9	C	T	PASS	0/1	271	NON_SYNONYMOUS_CODING	MODERATE	None		0.00140			0.01		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28564728 dbSNP Clinvar	105412005	420.73	A	G	PASS	0/1	295	SYNONYMOUS_CODING	LOW	None	0.37280	0.37280	0.27296				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28737397 dbSNP Clinvar	105411971	1241.64	T	C	PASS	0/1	337	NON_SYNONYMOUS_CODING	MODERATE	None	0.26158	0.26160	0.04490		0.28		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs373797895 dbSNP Clinvar	105411957	1472.68	G	A	PASS	0/1	347	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10438247 dbSNP Clinvar	105411781	9153.68	G	A	PASS	0/1	563	NON_SYNONYMOUS_CODING	MODERATE	None	0.53854	0.53850	0.42047		1.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs4264326 dbSNP Clinvar	105411700	9664.73	A	G	PASS	0/1	606	NON_SYNONYMOUS_CODING	MODERATE	None	0.56350	0.56350	0.40369		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs34499888 dbSNP Clinvar	105411153	8133.29	G	A	PASS	0/1	552	SYNONYMOUS_CODING	LOW	None	0.24062	0.24060	0.37356				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs28380382 dbSNP Clinvar	105410827	9991.56	C	T	PASS	0/1	682	NON_SYNONYMOUS_CODING	MODERATE	None	0.55252	0.55250	0.41489		1.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs2819424 dbSNP Clinvar	105410775	10301.8	A	G	PASS	0/1	713	SYNONYMOUS_CODING	LOW	None	0.58586	0.58590	0.39270				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs11160825 dbSNP Clinvar	105410411	8750.78	C	T	PASS	0/1	593	NON_SYNONYMOUS_CODING	MODERATE	None	0.54972	0.54970	0.41916		0.98		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10438246 dbSNP Clinvar	105410183	8241.56	T	C	PASS	0/1	587	NON_SYNONYMOUS_CODING	MODERATE	None	0.55591	0.55590	0.41195		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	combined sample_95.variant40	14	rs10141053 dbSNP Clinvar	105409907	7724.37	T	C	PASS	0/1	495	NON_SYNONYMOUS_CODING	MODERATE	None	0.24581	0.24580	0.37089		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
AHSA1
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	combined sample_95.variant40	14	rs1061638 dbSNP Clinvar	77928525	3453.47	A	G	PASS	0/1	110	SYNONYMOUS_CODING	LOW	None	0.62380	0.62380	0.40228				None None	None None None None	AHSA1\|0.497086001\|15.98%
AK7
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	combined sample_95.variant40	14	rs2369679 dbSNP Clinvar	96922752	3012.09	C	G	PASS	1/1	54	NON_SYNONYMOUS_CODING	MODERATE	None	0.88459	0.88460	0.12940	1.00	0.00		None None	None None None None	AK7\|0.025423977\|71.6%
AKAP5
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	combined sample_95.variant40	14	rs1256149 dbSNP Clinvar	64935720	1883.72	C	T	PASS	1/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.98383	0.98380	0.00008	1.00	0.00		None None	None None None None	ZBTB25\|0.303467452\|27.4%,AKAP5\|0.028809341\|70%
AKAP6
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	combined sample_95.variant40	14	rs7150894 dbSNP Clinvar	33015014	1295.86	G	A	PASS	0/1	101	SYNONYMOUS_CODING	LOW	None	0.72863	0.72860	0.25211				None None	None None None None	AKAP6\|0.906075509\|3.33%

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+ Genes 386

+ Genes associated with diseases 77

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ACIN1

ACOT2

ACOT4

ACOT6

ACYP1

ADAM21

ADCK1

AE000662.92

AHNAK2

AHSA1

AK7

AKAP5

AKAP6

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