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Genes:
ABCD4, ACIN1, ACOT2, ACOT4, ACTR10, ACYP1, ADAM21, ADCY4, ADSSL1, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL139099.1, ALKBH1, ANG, ANGEL1, AP5M1, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATXN3, BAG5, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BTBD6, BTBD7, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf178, C14orf180, C14orf182, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, C14orf93, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDH24, CEP128, CEP170B, CHD8, CHGA, CHMP4A, CINP, CKB, CMA1, COQ6, CPNE6, CTAGE5, DAAM1, DACT1, DCAF11, DCAF5, DDHD1, DDX24, DEGS2, DHRS4, DHRS4-AS1, DHRS4L2, DIO2, DLK1, DNAAF2, DPF3, DYNC1H1, EAPP, EDDM3B, EFCAB11, EFS, ELMSAN1, EML1, EML5, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM177A1, FAM181A, FAM71D, FANCM, FBLN5, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GOLGA5, GPATCH2L, GPR132, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HOMEZ, HSP90AA1, IFI27, IFT43, IGHA1, IGHA2, IGHD, IGHD2-15, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-58, IGHV1-69, IGHV2-5, IGHV2-70, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-43, IGHV3-49, IGHV3-53, IGHV4-28, IGHV4-31, IGHV4-39, IGHV4-4, IGHV5-51, INF2, INSM2, IRF2BPL, IRF9, JAG2, JDP2, KCNH5, KCNK10, KHNYN, KIAA0125, KIAA0247, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGMN, LRFN5, LRR1, LRRC16B, LRRC9, LTB4R2, LTBP2, MAP3K9, MARK3, MBIP, MDGA2, MDP1, METTL3, MIA2, MLH3, MOK, MTA1, MTHFD1, MYH6, MYH7, NEK9, NEMF, NFATC4, NGDN, NID2, NIN, NOP9, NOXRED1, NPAS3, NRDE2, NRXN3, NUBPL, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H4, OR11H6, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4Q2, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OXA1L, PACS2, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, PPP1R36, PPP2R5C, PRIMA1, PRKCH, PRKD1, PROX2, PSEN1, PSMC1, PSME2, PTGDR, PTGR2, PTPN21, PYGL, RABGGTA, RBM23, RBM25, RCOR1, RD3L, REC8, REM2, RIN3, RNASE13, RNASE3, RNASE7, RNASE8, RNASE9, RNF31, RP11-187E13.1, RP11-80A15.1, RP11-998D10.1, RPGRIP1, RPL36AL, RPS6KL1, RTL1, RTN1, SALL2, SAMD15, SAMD4A, SAV1, SCFD1, SDR39U1, SERPINA1, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SFTA3, SIPA1L1, SIX1, SIX4, SIX6, SLC24A4, SLC25A21-AS1, SLC25A29, SLC25A47, SLC38A6, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNW1, SNX6, SOCS4, SOS2, SPATA7, SPTB, SPTLC2, STON2, STRN3, STXBP6, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDRD9, TECPR2, TEP1, TGM1, TMED8, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAF3, TRAJ13, TRAJ16, TRAJ24, TRAJ32, TRAJ36, TRAJ37, TRAJ38, TRAV1-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV23DV6, TRAV26-1, TRAV29DV5, TRAV35, TRAV36DV7, TRAV38-1, TRAV39, TRAV6, TRAV8-2, TRAV8-3, TRAV8-7, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, YLPM1, ZBTB42, ZC2HC1C, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410, ZNF839,

Genes at Omim

ABCD4, ANG, APOPT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COQ6, DDHD1, DYNC1H1, EML1, ESRRB, FBLN5, FLVCR2, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MYH6, MYH7, NEK9, NIN, NUBPL, PAX9, PCK2, POMT2, PRKCH, PSEN1, PTGDR, PYGL, RPGRIP1, SALL2, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TECPR2, TGM1, TRAF3, TRMT5, TSHR, TTLL5, VRK1, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (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)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (3)
CCDC88C ?Spinocerebellar ataxia 40, 616053 (3)
Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (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)
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 hydraencephaly-hydrocephaly syndrome, 225790 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 Tyrosinemia, type Ib (1)
IFT43 Cranioectodermal dysplasia 3, 614099 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (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)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (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 ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NUBPL Mitochondrial complex I deficiency, 252010 (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)
PSEN1 Acne inversa, familial, 3, 613737 (3)
Alzheimer disease, type 3, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)
Cardiomyopathy, dilated, 1U, 613694 (3)
Dementia, frontotemporal, 600274 (3)
Pick disease, 172700 (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)
SERPINA1 Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
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 and near-fatal (3)
Elliptocytosis-3 (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)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TGM1 Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 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)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ANG, APOPT1, ATL1, ATXN3, BMP4, CCDC88C, CHD8, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, FLVCR2, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MTHFD1, MYH6, MYH7, NIN, NUBPL, PAX9, POMT2, PSEN1, PYGL, RPGRIP1, SALL2, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TGM1, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ANG Amyotrophic lateral sclerosis 9
APOPT1 Mitochondrial complex IV deficiency
ATL1 Spastic paraplegia 3, autosomal dominant
Neuropathy, hereditary sensory, type 1D
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4 Orofacial cleft 11
Microphthalmia, syndromic 6
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Spinal muscular atrophy, lower extremity, autosomal dominant
Mental retardation, autosomal dominant 13
Charcot-Marie-Tooth disease, axonal, type 2O
ESRRB Deafness, autosomal recessive 35
FANCM Fanconi anemia type M
FBLN5 Cutis laxa, autosomal recessive, type IA
Cutis laxa, autosomal dominant 2
Macular degeneration, age-related 3
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
KIAA0586 Short rib thoracic dysplasia 14 with polydactyly
Joubert syndrome 23
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Weill-Marchesani syndrome 3
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Glaucoma 3, primary congenital, D
MLH3 Endometrial carcinoma
Colorectal cancer, hereditary nonpolyposis type 7
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, familial hypertrophic 14
Cardiomyopathy, dilated, 1EE
MYH7 Myopathy, myosin storage, autosomal recessive
Myopathy, distal
Cardiomyopathy, familial hypertrophic
Cardiomyopathy, dilated, 1S
NIN Seckel syndrome 7
NUBPL Mitochondrial complex I deficiency
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PSEN1 Cardiomyopathy, dilated 1U
PYGL Glycogen storage disease VI
RPGRIP1 Cone-rod dystrophy 13
Leber congenital amaurosis 6
SALL2 Ocular coloboma
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX1 Branchiootic syndrome 3
Branchiootorenal syndrome 3
Deafness, autosomal dominant 23
SIX6 Optic disc anomalies with retinal and/or macular dystrophy
Microphthalmia, isolated, with cataract 2
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SOS2 Noonan syndrome 9
SPATA7 Retitinitis pigmentosa, juvenile, SPATA7-related
Leber congenital amaurosis 3
SPTB Anemia, neonatal hemolytic
Ellipsocytosis, type 3
Spherocytosis, type 2
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
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 Hypothyroidism, congenital, nongoitrous, 1
Hyperthyroidism, nonautoimmune
Hyperthyroidism, familial, gestational
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated 2
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 4660
Number of Genes: 401

Export to: CSV

ABCD4

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 mm170241ct 14 rs147446660
dbSNP
74766869 372.77 C G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00100 0.00100 0.00054 0.00 0.98 None None None None None None None

ACIN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs60168438
dbSNP
23530622 988.77 T C . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.24501 0.24500 0.25119 None None None None None None None
View mm170241ct 14 rs3811182
dbSNP
23549785 4661.77 T C . 1/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50080 0.50080 0.49300 0.00 None None None None None None None
View mm170241ct 14 rs1885098
dbSNP
23549380 671.77 G A . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.00040 0.10520 0.00277 None None None None None None None
View mm170241ct 14 rs148403158,rs3077646
dbSNP
23548783 5457.73 A AG... . 1/1 112 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.38778 0.38780 0.49976 None None None None None None None
View mm170241ct 14 rs941719
dbSNP
23549379 1704.77 C G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99960 0.99960 0.00338 0.00 None None None None None None None
View mm170241ct 14 rs1885097
dbSNP
23549319 1617.77 A G . 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42832 0.42830 0.44526 0.00 None None None None None None None
View mm170241ct 14 rs80007670
dbSNP
23548793 15.88 C T LowQual 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00231 0.01 None None None None None None None
View mm170241ct 14 rs34870944
dbSNP
23548787 5702.74 C CG... . 0/1 112 CODON_INSERTION MODERATE None None None None None None None

ACOT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs149033118
dbSNP
74041748 766.77 A G . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 None None None None None None None
View mm170241ct 14 rs7494
dbSNP
74042189 81.77 A G . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None None

ACOT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs3742819
dbSNP
74058832 323.77 C T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None None
View mm170241ct 14 rs2010070
dbSNP
74061968 3354.77 T C . 1/1 99 SYNONYMOUS_CODING LOW SILENT 0.86182 0.86180 0.20060 None None None None None None None

ACTR10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs17832891
dbSNP
58678057 3775.77 G A . 0/1 280 SYNONYMOUS_CODING LOW SILENT 0.02935 0.02935 0.02499 None None None None None None None

ACYP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs175499
dbSNP
75535927 462.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33786 0.33790 0.36 0.00 None None None None None None None

ADAM21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs3751524
dbSNP
70924507 946.77 A C . 1/1 33 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 14 rs3751523
dbSNP
70924462 795.77 A G . 1/1 24 SYNONYMOUS_CODING LOW SILENT 0.19437 None None None None None None None
View mm170241ct 14 rs8010994,rs71423393
dbSNP
70924501 965.77 C G . 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.00 None None None None None None None
View mm170241ct 14 rs12436346
dbSNP
70925257 3501.77 A G . 1/1 141 SYNONYMOUS_CODING LOW SILENT 0.02736 None None None None None None None

ADCY4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs73591468
dbSNP
24801045 234.77 T A . 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.03375 0.03375 0.03376 None None None None None None None

ADSSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs33958252
dbSNP
105196365 60.77 T C . 0/1 9 SYNONYMOUS_CODING LOW SILENT 0.60923 0.60920 0.44888 None None None None None None None
View mm170241ct 14 rs34672588
dbSNP
105196235 32.77 G A . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.53435 0.53430 0.46393 None None None None None None None
View mm170241ct 14 rs80097179
dbSNP
105196230 62.77 A C . 0/1 4 NON_SYNONYMOUS_START LOW MISSENSE 0.37620 0.37620 0.26942 0.00 0.00 None None None None None None None

AE000662.92

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs12888861
dbSNP
23025932 322.78 A T . 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.62840 0.62840 None None None None None None None

AHNAK2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs55650155
dbSNP
105418264 1070.77 G A . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38299 0.38300 0.42877 0.00 None None None None None None None
View mm170241ct 14 rs78014542
dbSNP
105406235 481.77 A C . 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00899 0.00899 0.01824 0.02 None None None None None None None
View mm170241ct 14 rs2819429
dbSNP
105414280 771.77 T G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84325 0.84330 0.10362 0.25 None None None None None None None
View mm170241ct 14 rs12890949
dbSNP
105415352 2756.77 G C . 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00519 0.00519 0.05832 0.00 None None None None None None None
View mm170241ct 14 rs2819435
dbSNP
105416220 649.77 T A . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07528 0.72180 0.13588 0.00 None None None None None None None
View mm170241ct 14 rs2819440
dbSNP
105417894 618.77 C G . 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78355 0.78350 0.18114 0.00 None None None None None None None
View mm170241ct 14 rs56330864
dbSNP
105418260 929.77 T A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.00779 0.00779 0.41918 None None None None None None None

AHSA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1061638
dbSNP
77928525 836.77 A G . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.62380 0.62380 0.40228 None None None None None None None

AK7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2369679
dbSNP
96922752 4315.77 C G . 1/1 122 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88459 0.88460 0.12940 1.00 0.00 None None None None None None None
View mm170241ct 14 rs2275554
dbSNP
96871104 735.77 G A . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21346 0.21350 0.24604 0.11 0.04 None None None None None None None

AKAP5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1256149
dbSNP
64935720 10004.77 C T . 1/1 292 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98383 0.98380 0.00008 1.00 0.00 None None None None None None None

AKAP6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs11845640
dbSNP
33291494 2221.77 C T . 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26538 0.26540 0.20798 0.32 0.01 None None None None None None None
View mm170241ct 14 rs1051695
dbSNP
33293122 7671.77 A G . 1/1 227 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71026 0.71030 0.36060 0.81 0.05 None None None None None None None
View mm170241ct 14 rs4647899
dbSNP
33293531 1711.77 T A . 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26837 0.26840 0.26165 0.31 0.13 None None None None None None None
View mm170241ct 14 rs1950703
dbSNP
33046388 4317.77 A G . 0/1 343 SYNONYMOUS_CODING LOW SILENT 0.86641 0.86640 0.18937 None None None None None None None
View mm170241ct 14 rs2239648
dbSNP
33292914 3168.77 A C . 0/1 228 SYNONYMOUS_CODING LOW SILENT 0.26617 0.26620 0.21175 None None None None None None None
View mm170241ct 14 rs2239647
dbSNP
33292743 8562.77 A C . 1/1 258 SYNONYMOUS_CODING LOW SILENT 0.71126 0.71130 0.34938 None None None None None None None
View mm170241ct 14 rs7150894
dbSNP
33015014 6477.77 G A . 1/1 196 SYNONYMOUS_CODING LOW SILENT 0.72863 0.72860 0.25211 None None None None None None None
View mm170241ct 14 rs35977369
dbSNP
33293820 3272.77 A T . 0/1 247 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01577 0.01577 0.01699 0.43 0.00 None None None None None None None

AL139099.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2281837
dbSNP
50065359 3431.77 C G . 1/1 112 SYNONYMOUS_CODING LOW SILENT 0.53814 0.53810 None None None None None None None

ALKBH1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs6493
dbSNP
78140329 511.77 G A . 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.09006 0.09006 0.13555 None None None None None None None
View mm170241ct 14 rs6494
dbSNP
78140355 583.77 T A . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11861 0.11860 0.17500 0.48 0.00 None None None None None None None

ANG

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs11701
dbSNP
21162053 1171.77 T G . 0/1 87 SYNONYMOUS_CODING LOW SILENT 0.11482 0.11480 0.13163 None None None None None None None

ANGEL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs34270005
dbSNP
77275630 780.77 C A . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04673 0.04673 0.05890 0.01 0.00 None None None None None None None

AP5M1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs35759976
dbSNP
57755564 3620.77 G A . 0/1 269 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03435 0.03435 0.05213 0.01 0.19 None None None None None None None

APOPT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2274267
dbSNP
104029449 135.77 G A . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.22125 0.22120 0.21606 None None None None None None None

ARHGEF40

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1958395
dbSNP
21551058 1812.77 G A . 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.40881 None None None None None None None
View mm170241ct 14 rs7143633
dbSNP
21549893 1837.77 G C . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78035 0.78040 0.15060 1.00 0.00 None None None None None None None
View mm170241ct 14 rs1958396
dbSNP
21551069 1881.77 T C . 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85923 0.85920 0.07573 0.42 0.00 None None None None None None None

ARID4A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1051858
dbSNP
58831142 9697.77 A G . 1/1 279 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34944 0.34940 0.33434 0.84 0.00 None None None None None None None

ASB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs4277287
dbSNP
94417541 487.77 A G . 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.81190 0.81190 0.16239 None None None None None None None
View mm170241ct 14 rs4483793
dbSNP
94417586 162.9 G A . 1/1 8 SYNONYMOUS_CODING LOW SILENT 0.58007 0.58010 0.41404 None None None None None None None
View mm170241ct 14 rs10873442
dbSNP
94405871 722.77 G C . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.80391 0.80390 0.15394 None None None None None None None
View mm170241ct 14 rs7147919
dbSNP
94417421 1684.77 G A . 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.55511 0.55510 0.44126 None None None None None None None

ASPG

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1770984
dbSNP
104559919 331.77 T C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41274 0.41270 0.29623 1.00 0.00 None None None None None None None
View mm170241ct 14 rs8012505
dbSNP
104571054 99.77 C G . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10443 0.10440 0.11648 0.02 0.04 None None None None None None None
View mm170241ct 14 rs941953
dbSNP
104559852 536.77 T C . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.41274 0.41270 0.29535 None None None None None None None
View mm170241ct 14 rs1744284
dbSNP
104559922 385.77 C G . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41254 0.41250 0.29609 0.13 0.00 None None None None None None None
View mm170241ct 14 rs1465163
dbSNP
104563932 94.77 G T . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.24042 0.24040 0.10066 None None None None None None None

ATG2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs9323945
dbSNP
96781912 2822.77 T C . 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90655 0.90650 0.00711 1.00 0.00 None None None None None None None
View mm170241ct 14 rs2289622
dbSNP
96771959 3740.77 A G . 1/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89357 0.89360 0.02122 0.99 0.00 None None None None None None None
View mm170241ct 14 rs12434329
dbSNP
96829290 1133.77 G A . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.47943 0.47940 0.39793 None None None None None None None
View mm170241ct 14 rs1822372
dbSNP
96797724 5130.77 G A . 1/1 145 SYNONYMOUS_CODING LOW SILENT 0.84405 0.84400 0.02101 None None None None None None None

ATL1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1060197
dbSNP
51057727 4086.77 G A . 0/1 268 SYNONYMOUS_CODING LOW SILENT 0.82149 0.82150 0.20414 None None None None None None None

ATXN3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs12896583
dbSNP
92537379 229.77 T C . 0/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 14 rs16999141
dbSNP
92549586 4514.77 G A . 1/1 138 SYNONYMOUS_CODING LOW SILENT 0.56669 0.56670 0.45840 None None None None None None None

BAG5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs7148456
dbSNP
104028270 1317.77 T C . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.25599 0.25600 0.25625 None None None None None None None

BAZ1A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2275145
dbSNP
35242828 4533.77 G A . 1/1 139 SYNONYMOUS_CODING LOW SILENT 0.51538 0.51540 0.49431 None None None None None None None

BCL2L2-PABPN1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2231301
dbSNP
23777099 676.77 G A . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.24900 0.24900 0.17871 None None None None None None None
View mm170241ct 14 rs910332
dbSNP
23777374 771.77 A G . 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00231 0.54 0.00 None None None None None None None

BDKRB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs33925361
dbSNP
96730718 567.77 G A . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.11721 0.11720 0.09080 None None None None None None None
View mm170241ct 14 rs2071084
dbSNP
96730142 1225.77 A G . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.83427 0.83430 0.13125 None None None None None None None

BDKRB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs5224
dbSNP
96707457 2009.77 A G . 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.85903 0.85900 0.11748 None None None None None None None

BEGAIN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs12893951
dbSNP
101005215 270.77 T C . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.65096 0.65100 0.43214 None None None None None None None
View mm170241ct 14 rs12892571
dbSNP
101005236 197.77 A G . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.64417 0.64420 0.44482 None None None None None None None

BMP4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs17563
dbSNP
54417522 543.77 A G . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32568 0.32570 0.45002 0.72 0.01 None None None None None None None

BTBD6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs45452103
dbSNP
105716377 505.77 C T . 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.00859 0.00859 0.01794 None None None None None None None

BTBD7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2273640
dbSNP
93799221 434.77 G A . 0/1 27 None None None 0.19229 0.19230 None None None None None None None

C14orf105

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1152530
dbSNP
57938260 1750.77 T C . 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89357 0.89360 0.11133 0.16 0.07 None None None None None None None
View mm170241ct 14 rs1152531
dbSNP
57938124 2385.77 C T . 1/1 68 SYNONYMOUS_CODING LOW SILENT 0.66594 0.66590 0.41904 None None None None None None None

C14orf132

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2093722
dbSNP
96556914 712.77 T C . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.81010 0.81010 None None None None None None None
View mm170241ct 14 rs10148419
dbSNP
96557121 1532.77 T C . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.99481 0.99480 None None None None None None None

C14orf144

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs7141507
dbSNP
104710651 752.77 C T . 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.43670 0.43670 None None None None None None None

C14orf159

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs4900071
dbSNP
91636395 35.77 C T . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.16713 0.16710 0.27741 None None None None None None None
View mm170241ct 14 rs4900072
dbSNP
91636532 333.77 C T . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16713 0.16710 0.27741 1.00 0.00 None None None None None None None
View mm170241ct 14 rs2295524
dbSNP
91671124 491.77 G A . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18451 0.18450 0.14024 0.04 0.09 None None None None None None None

C14orf166B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1882844
dbSNP
77332367 1967.77 C T . 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.91673 0.91670 0.04053 None None None None None None None
View mm170241ct 14 rs7160583
dbSNP
77332408 681.77 T C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22863 0.22860 0.29901 1.00 0.00 None None None None None None None

C14orf178

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs8015313
dbSNP
78234796 1135.77 C T . 0/1 76 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12001 0.12000 0.17433 0.42 0.01 None None None None None None None
View mm170241ct 14 rs72687241
dbSNP
78235834 90.77 G A . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06210 0.06210 0.07735 0.05 0.97 None None None None None None None

C14orf180

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs12880814
dbSNP
105054934 159.77 A G . 0/1 9 None None None 0.42133 0.42130 0.20693 None None None None None None None
View mm170241ct 14 rs111285011,rs750841137,rs11278058,rs569942489
dbSNP
105055118 1761.73 TG... T . 1/1 24 CODON_DELETION MODERATE 0.60144 0.60140 0.37790 None None None None None None None

C14orf182

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs6572635
dbSNP
50472405 423.77 G A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29573 0.29570 0.30201 0.09 0.96 None None None None None None None

C14orf23

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs56025822,rs71101677
dbSNP
29261309 6226.73 A AAAC . 0/1 240 CODON_INSERTION MODERATE 0.28894 0.42170 None None None None None None None

C14orf37

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs61741193
dbSNP
58605072 1356.77 C G . 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01697 0.01697 0.01684 0.07 0.39 None None None None None None None
View mm170241ct 14 rs45570237
dbSNP
58598437 205.77 G C . 0/1 15 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00339 0.00340 0.00615 0.08 0.09 None None None None None None None