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+ Genes 349

Genes:
ABCD4, ABHD12B, ACIN1, ACOT4, ADAM21, ADCK1, ADSSL1, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AKT1, AL133373.1, ALKBH1, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ATG14, ATG2B, ATL1, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BMP4, BRF1, BTBD6, BTBD7, C14orf105, C14orf144, C14orf159, C14orf166B, C14orf180, C14orf182, C14orf23, C14orf39, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CHD8, CHGA, CHMP4A, CINP, CKB, CMA1, CMTM5, COCH, COQ6, CPNE6, CRIP1, CTAGE5, DAAM1, DACT1, DCAF4, DDHD1, DDX24, DEGS2, DHRS1, DLGAP5, DLK1, DLST, DNAAF2, DYNC1H1, EAPP, EDDM3B, EFCAB11, ELMSAN1, EML5, ENTPD5, ERO1L, ESRRB, EXD2, EXOC3L4, FAM161B, FAM181A, FANCM, FBLN5, FBXO34, FERMT2, FLRT2, FOXA1, FRMD6, FSCB, FUT8, GALC, GNG2, GOLGA5, GPATCH2L, GPR132, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HIF1A, HOMEZ, HSP90AA1, HSPA2, IFI27, IFI27L1, IFT43, IGHA2, IGHD, IGHD2-2, IGHD2-21, IGHD2-8, IGHD3-10, IGHD3-16, IGHG4, IGHM, IGHV1-24, IGHV1-3, IGHV1-45, IGHV1-58, IGHV1-69, IGHV2-5, IGHV2-70, IGHV3-43, IGHV3-49, IGHV3-64, IGHV3-73, IGHV4-39, IGHV5-51, IL25, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0125, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRR1, LRRC16B, LTBP2, MAP3K9, MAP4K5, MARK3, MBIP, MDGA2, METTL3, MIS18BP1, MLH3, MPP5, MTA1, MTHFD1, MYH6, MYH7, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NRDE2, NRXN3, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H6, OR4E2, OR4K1, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4Q2, OR4Q3, OR5AU1, OR6S1, OTUB2, OXA1L, PACS2, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PIGH, PLD4, PLEKHD1, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, POTEG, PPP1R36, PRIMA1, PRKCH, PRKD1, PSMB11, PSMB5, PSMC1, PTGDR, PTGER2, PTGR2, PTPN21, PYGL, RABGGTA, RALGAPA1, RBM23, REC8, RIN3, RIPK3, RNASE11, RNASE13, RNASE3, RNASE7, RNASE8, RNASE9, RP11-998D10.1, RPGRIP1, RPS6KA5, RTL1, RTN1, SALL2, SCFD1, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIVA1, SIX6, SLC24A4, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC8A3, SLIRP, SMOC1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TC2N, TCL1B, TDP1, TDRD9, TECPR2, TEP1, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TRAJ13, TRAJ16, TRAJ24, TRAJ32, TRAJ36, TRAJ37, TRAV1-2, TRAV12-2, TRAV14DV4, TRAV19, TRAV20, TRAV23DV6, TRAV26-1, TRAV35, TRAV36DV7, TRAV4, TRAV6, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-2, TRDV2, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VCPKMT, VRK1, VTI1B, WARS, WDHD1, WDR25, XRCC3, ZBTB42, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF410, ZNF839,

+ Genes associated with diseases 74

Genes at Omim

ABCD4, ADSSL1, AK7, AKT1, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, ESRRB, FANCM, FBLN5, FUT8, GALC, GSTZ1, IFT43, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, PACS2, PAX9, PCK2, PIGH, POMT2, PRKCH, PRKD1, PTGDR, PTGER2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDP1, TDRD9, TECPR2, TMEM260, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (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)
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)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (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)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (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)
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)
PACS2 Epileptic encephalopathy, early infantile, 66, 618067 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
PIGH Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)
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)
PTGER2 {Asthma, aspirin-induced, susceptibility to}, 208550 (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)
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)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (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

ABCD4, AKT1, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TDP1, TECPR2, TRMT5, TSHR, TTLL5, VRK1, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
AKT1 Cowden syndrome 6
Proteus syndrome
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
FANCM Fanconi anemia type M
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
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
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
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
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
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 2520
Number of Genes: 349

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 1313946 14 rs4148078
dbSNP Clinvar 		74759301 222.0 G T . 1/1 0 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View 1313946 14 rs2301345
dbSNP Clinvar 		74766352 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%
View 1313946 14 rs3742801
dbSNP Clinvar 		74759006 222.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View 1313946 14 rs4148077
dbSNP Clinvar 		74759477 222.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B
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 1313946 14 rs17123116
dbSNP Clinvar 		51371081 225.0 A C . 0/1 0 SYNONYMOUS_CODING LOW None 0.04014 0.04014 0.02922 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

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 1313946 14 rs941719
dbSNP Clinvar 		23549379 222.0 C G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 0.00 None None None None None None ACIN1|0.717450786|8.04%
View 1313946 14 rs1885097
dbSNP Clinvar 		23549319 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.44526 0.00 None None None None None None ACIN1|0.717450786|8.04%
View 1313946 14 rs3811182
dbSNP Clinvar 		23549785 225.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50080 0.50080 0.49300 0.00 None None None None None None ACIN1|0.717450786|8.04%
View 1313946 14 rs60168438
dbSNP Clinvar 		23530622 225.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.24501 0.24500 0.25119 None None None None None None ACIN1|0.717450786|8.04%

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 1313946 14 rs2010070
dbSNP Clinvar 		74061968 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%
View 1313946 14 rs3742819
dbSNP Clinvar 		74058832 27.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%

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 1313946 14 rs58247196
dbSNP Clinvar 		70924450 111.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs12436346
dbSNP Clinvar 		70925257 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs114864695
dbSNP Clinvar 		70924955 180.0 A C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.27576 0.27580 0.80 0.00 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs3829453
dbSNP Clinvar 		70924567 156.0 A T . 0/1 0 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.07931 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs3829452
dbSNP Clinvar 		70924566 171.0 C G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 1.00 0.00 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs3751524
dbSNP Clinvar 		70924507 225.0 A C . 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs8010994
dbSNP Clinvar 		70924501 222.0 C G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs3751523
dbSNP Clinvar 		70924462 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View 1313946 14 rs3751521
dbSNP Clinvar 		70924249 170.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 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 1313946 14 rs34272020
dbSNP Clinvar 		78374172 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.07648 0.07648 0.11710 None None None None None None ADCK1|0.142961952|44%

ADSSL1
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 1313946 14 rs34672588
dbSNP Clinvar 		105196235 225.0 G A . 0/1 0 SYNONYMOUS_CODING LOW None 0.53435 0.53430 0.46393 None None None None None None ADSSL1|0.059470498|60.05%
View 1313946 14 rs33958252
dbSNP Clinvar 		105196365 225.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%
View 1313946 14 rs80097179
dbSNP Clinvar 		105196230 225.0 A C . 0/1 0 NON_SYNONYMOUS_START LOW None 0.37620 0.37620 0.26942 0.00 0.00 None None None None None None ADSSL1|0.059470498|60.05%

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 1313946 14 rs12890949
dbSNP Clinvar 		105415352 222.0 G C . 1/1 0 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 1313946 14 rs2819435
dbSNP Clinvar 		105416220 222.0 T A . 1/1 0 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 1313946 14 rs2582506
dbSNP Clinvar 		105416685 97.0 C G . 0/1 0 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.30909 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs879210
dbSNP Clinvar 		105420927 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.31470 0.31470 0.42521 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs71421895
dbSNP Clinvar 		105416918 140.0 T C . 0/1 0 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 1313946 14 rs76650680
dbSNP Clinvar 		105423809 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01498 0.01498 0.03620 0.97 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs879209
dbSNP Clinvar 		105421050 225.0 T G . 0/1 0 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.41829 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs2013445
dbSNP Clinvar 		105417147 13.2 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.42911 0.42910 0.46916 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs2819440
dbSNP Clinvar 		105417894 222.0 C G . 1/1 0 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 1313946 14 rs56330864
dbSNP Clinvar 		105418260 222.0 T A . 1/1 0 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.41918 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs55791176
dbSNP Clinvar 		105418344 194.0 T G . 0/1 0 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 1313946 14 rs11625007
dbSNP Clinvar 		105418391 225.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.48587 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View 1313946 14 rs2819429
dbSNP Clinvar 		105414280 222.0 T G . 1/1 0 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 1313946 14 rs55650155
dbSNP Clinvar 		105418264 222.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.38299 0.38300 0.42877 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 1313946 14 rs1061638
dbSNP Clinvar 		77928525 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.62380 0.62380 0.40228 None None None None None None AHSA1|0.497086001|15.98%
View 1313946 14 . 77935239 162.0 tgg tGgg . 1/1 0 None None None None None None None None None AHSA1|0.497086001|15.98%
View 1313946 14 rs1061629
dbSNP Clinvar 		77926011 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.47444 0.47440 0.39497 None None None None None None AHSA1|0.497086001|15.98%
View 1313946 14 rs7250
dbSNP Clinvar 		77935520 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.47943 0.47940 0.40112 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 1313946 14 rs2369679
dbSNP Clinvar 		96922752 222.0 C G . 1/1 0 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 1313946 14 rs1256149
dbSNP Clinvar 		64935720 222.0 C T . 1/1 0 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 1313946 14 rs1950703
dbSNP Clinvar 		33046388 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.86641 0.86640 0.18937 None None None None None None AKAP6|0.906075509|3.33%
View 1313946 14 rs7150894
dbSNP Clinvar 		33015014 225.0 G A . 0/1 0 SYNONYMOUS_CODING LOW None 0.72863 0.72860 0.25211 None None None None None None AKAP6|0.906075509|3.33%

AKT1
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 1313946 14 rs1130233
dbSNP Clinvar 		105239894 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.32248 0.32250 0.20163 None None None None None None AKT1|0.999993361|0.05%

AL133373.1
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 1313946 14 rs12323881
dbSNP Clinvar 		92040793 225.0 C G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.18031 0.18030 0.04780 0.00 None None None None None None None

ALKBH1
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 1313946 14 rs6493
dbSNP Clinvar 		78140329 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.09006 0.09006 0.13555 None None None None None None ALKBH1|0.129415095|45.95%
View 1313946 14 rs6494
dbSNP Clinvar 		78140355 222.0 T A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11861 0.11860 0.17500 0.48 0.00 None None None None None None ALKBH1|0.129415095|45.95%

APEX1
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 1313946 14 rs1130409
dbSNP Clinvar 		20925154 222.0 T G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.37560 0.37560 0.43557 1.00 0.00 None None None None None None APEX1|0.756632015|6.94%

APOPT1
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 1313946 14 rs2274268
dbSNP Clinvar 		104029378 136.0 C G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.23463 0.23460 0.26937 0.22 0.00 None None None None None None KLC1|0.436707897|18.85%,APOPT1|0.014771231|77.31%

ARHGEF40
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 1313946 14 rs1958396
dbSNP Clinvar 		21551069 222.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.85923 0.85920 0.07573 0.42 0.00 None None None None None None ARHGEF40|0.101019692|50.98%
View 1313946 14 rs7143633
dbSNP Clinvar 		21549893 222.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.78035 0.78040 0.15060 1.00 0.00 None None None None None None ARHGEF40|0.101019692|50.98%
View 1313946 14 rs1958395
dbSNP Clinvar 		21551058 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.40881 None None None None None None ARHGEF40|0.101019692|50.98%

ARID4A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 14 rs45562837
dbSNP Clinvar 		58768333 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.04593 0.04593 0.05567 None None None None None None ARID4A|0.332925405|25.26%
View 1313946 14 rs1051861
dbSNP Clinvar 		58838701 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.47801 None None None None None None ARID4A|0.332925405|25.26%
View 1313946 14 rs1051860
dbSNP Clinvar 		58838668 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.46971 None None None None None None ARID4A|0.332925405|25.26%
View 1313946 14 rs1051858
dbSNP Clinvar 		58831142 214.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.34944 0.34940 0.33434 0.84 0.00 None None None None None None ARID4A|0.332925405|25.26%
View 1313946 14 rs17832939
dbSNP Clinvar 		58820568 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.03260 None None None None None None ARID4A|0.332925405|25.26%

ASB2
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 1313946 14 rs4277287
dbSNP Clinvar 		94417541 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.81190 0.81190 0.16239 None None None None None None ASB2|0.131824124|45.65%
View 1313946 14 rs10873442
dbSNP Clinvar 		94405871 222.0 G C . 1/1 0 SYNONYMOUS_CODING LOW None 0.80391 0.80390 0.15394 None None None None None None ASB2|0.131824124|45.65%
View 1313946 14 rs7147919
dbSNP Clinvar 		94417421 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.55511 0.55510 0.44126 None None None None None None ASB2|0.131824124|45.65%
View 1313946 14 rs4483793
dbSNP Clinvar 		94417586 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.58007 0.58010 0.41404 None None None None None None ASB2|0.131824124|45.65%

ATG14
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 1313946 14 rs8003279
dbSNP Clinvar 		55864130 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.20867 0.20870 0.26296 None None None None None None ATG14|0.1555867|42.19%

ATG2B
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 1313946 14 rs12434329
dbSNP Clinvar 		96829290 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.47943 0.47940 0.39793 None None None None None None ATG2B|0.10842436|49.47%
View 1313946 14 rs2289622
dbSNP Clinvar 		96771959 222.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.89357 0.89360 0.02122 0.99 0.00 None None None None None None ATG2B|0.10842436|49.47%
View 1313946 14 rs1822372
dbSNP Clinvar 		96797724 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.84405 0.84400 0.02101 None None None None None None ATG2B|0.10842436|49.47%
View 1313946 14 rs9323945
dbSNP Clinvar 		96781912 222.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.90655 0.90650 0.00711 1.00 0.00 None None None None None None ATG2B|0.10842436|49.47%
View 1313946 14 rs3759601
dbSNP Clinvar 		96777468 179.0 G C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.24980 0.24980 0.33746 0.90 0.01 None None None None None None ATG2B|0.10842436|49.47%

ATL1
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 1313946 14 rs1060197
dbSNP Clinvar 		51057727 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.82149 0.82150 0.20414 None None None None None None ATL1|0.525719843|14.74%

ATP5S
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 1313946 14 rs4901016
dbSNP Clinvar 		50798743 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.56450 0.56450 0.04 0.05 None None None None None None ATP5S|0.070283776|57.43%,CDKL1|0.112865284|48.69%
View 1313946 14 rs2275592
dbSNP Clinvar 		50788213 225.0 C T . 0/1 0 None None None 0.56889 0.56890 0.44095 1.00 0.00 None None None None None None ATP5S|0.070283776|57.43%
View 1313946 14 rs12433794
dbSNP Clinvar 		50786004 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.62580 0.62580 0.02 0.07 None None None None None None ATP5S|0.070283776|57.43%

ATXN3
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 1313946 14 . 92537385 123.0 ctttt ct . 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN3|0.681306976|9.03%

BAZ1A
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 1313946 14 rs2275145
dbSNP Clinvar 		35242828 225.0 G A . 0/1 0 SYNONYMOUS_CODING LOW None 0.51538 0.51540 0.49431 None None None None None None BAZ1A|0.477260471|16.88%
View 1313946 14 rs17102745
dbSNP Clinvar 		35263983 225.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.11582 0.11580 0.10080 None None None None None None BAZ1A|0.477260471|16.88%

BCL2L2-PABPN1
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 1313946 14 rs910332
dbSNP Clinvar 		23777374 222.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00231 0.54 0.00 None None None None None None BCL2L2|0.580284397|12.57%,BCL2L2-PABPN1|0.816191843|5.42%

BDKRB1
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 1313946 14 rs2071084
dbSNP Clinvar 		96730142 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.83427 0.83430 0.13125 None None None None None None BDKRB1|0.016704422|76.07%

BDKRB2
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 1313946 14 rs5224
dbSNP Clinvar 		96707457 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.85903 0.85900 0.11748 None None None None None None BDKRB2|0.06104553|59.58%

BMP4
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 1313946 14 rs17563
dbSNP Clinvar 		54417522 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.45002 0.72 0.01 None None None None None None BMP4|0.999824824|0.22%

BRF1
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 1313946 14 rs1008628
dbSNP Clinvar 		105722726 225.0 T C . 0/1 0 None None None 0.22264 0.22260 None None None None None None BRF1|0.023675116|72.34%

BTBD6
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 1313946 14 rs2816606
dbSNP Clinvar 		105716034 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.18311 0.18310 0.22855 None None None None None None BRF1|0.023675116|72.34%,BTBD6|0.036822903|66.86%
View 1313946 14 rs2816605
dbSNP Clinvar 		105715515 154.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.15915 0.15910 0.19386 None None None None None None BRF1|0.023675116|72.34%,BTBD6|0.036822903|66.86%

BTBD7
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 1313946 14 rs36099812
dbSNP Clinvar 		93708759 225.0 A C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.07528 0.05974 1.00 0.00 None None None None None None BTBD7|0.272646908|29.68%

C14orf105
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 1313946 14 rs1152530
dbSNP Clinvar 		57938260 222.0 T C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.89357 0.89360 0.11133 0.16 0.07 None None None None None None C14orf105|0.032046883|68.59%
View 1313946 14 rs1152531
dbSNP Clinvar 		57938124 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.41904 None None None None None None C14orf105|0.032046883|68.59%

C14orf144
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 1313946 14 rs7141507
dbSNP Clinvar 		104710651 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.43670 0.43670 None None None None None None C14orf144|0.000424095|98.81%

C14orf159
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 1313946 14 rs2295524
dbSNP Clinvar 		91671124 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.18451 0.18450 0.14024 0.04 0.09 None None None None None None C14orf159|0.005784406|84.85%

C14orf166B
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 1313946 14 rs7160583
dbSNP Clinvar 		77332408 225.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.22863 0.22860 0.29901 1.00 0.00 None None None None None None LRRC74A|0.002256184|90.26%
View 1313946 14 rs2142189
dbSNP Clinvar 		77294950 225.0 C T . 0/1 0 None None None 0.26877 0.26880 None None None None None None LRRC74A|0.002256184|90.26%
View 1313946 14 rs142627436
dbSNP Clinvar 		77297656 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.00415 1.00 0.01 None None None None None None LRRC74A|0.002256184|90.26%
View 1313946 14 rs1882844
dbSNP Clinvar 		77332367 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.91673 0.91670 0.04053 None None None None None None LRRC74A|0.002256184|90.26%

C14orf180
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 1313946 14 rs12880814
dbSNP Clinvar 		105054934 135.0 A G . 0/1 0 None None None 0.42133 0.42130 0.20693 None None None None None None TMEM179|0.016981919|75.87%,C14orf180|0.001311006|93.82%
View 1313946 14 . 105055118 217.0 Tg... Tg... . 0/1 0 CODON_DELETION MODERATE None None None None None None None TMEM179|0.016981919|75.87%,C14orf180|0.001311006|93.82%

C14orf182
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 1313946 14 rs6572635
dbSNP Clinvar 		50472405 222.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.29573 0.29570 0.30201 0.09 0.96 None None None None None None LINC01588|0.001037741|95.22%

C14orf23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 14 . 29261305 217.0 AAA AA... . 0/1 0 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None LINC01551|0.030992921|68.96%

C14orf39
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 14 rs11625921
dbSNP Clinvar 		60923783 222.0 C T . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.02015 0.21 0.00 None None None None None None C14orf39|0.111454646|48.96%

C14orf79
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 14 rs894039
dbSNP Clinvar 		105461067 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.74481 0.74480 0.18722 None None None None None None C14orf79|0.001191967|94.47%

C14orf80
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 14 rs7494350
dbSNP Clinvar 		105962234 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.91394 0.91390 None None None None None None C14orf80|0.002989896|88.65%