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Genes:
ABLIM3, AC005609.1, AC008948.1, AC010441.1, AC026703.1, AC136604.1, AC138517.1, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADRB2, AFF4, AGXT2, AHRR, AMACR, ANKDD1B, ANKH, ANKRD31, ANKRD33B, ANKRD34B, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT, BHMT2, BRD8, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf17, C5orf20, C5orf22, C5orf27, C5orf34, C5orf38, C5orf45, C5orf46, C5orf49, C5orf55, C5orf56, C5orf60, C6, C7, CAMK2A, CAPSL, CARD6, CAST, CATSPER3, CCDC127, CCDC69, CCNH, CCT5, CD180, CDC20B, CDC25C, CDH12, CDH18, CDH6, CDHR2, CEP120, CEP72, CHSY3, CNOT6, COL23A1, COL4A3BP, COMMD10, CSF1R, CSF2, CTC-241N9.1, CTD-2215E18.1, CTD-2228K2.5, CTNND2, CTXN3, CWC27, CXXC5, CYFIP2, DBN1, DCP2, DDX4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DUSP1, EBF1, EDIL3, ELL2, ENC1, EPB41L4A, ERAP1, ERAP2, ERBB2IP, ERGIC1, EXOC3, F2RL1, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM173B, FAM193B, FAM196B, FAM81B, FASTKD3, FAT2, FBN2, FBXL21, FBXO38, FCHO2, FER, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FSTL4, FTMT, FYB, GABRA6, GABRP, GDF9, GEMIN5, GFM2, GFPT2, GHR, GLRX, GM2A, GNPDA1, GPBP1, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRIA1, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HCN1, HEXB, HK3, HMGCS1, HMGXB3, HMHB1, HSD17B4, HSPA9, HSPB3, IL13, IL31RA, IL7R, IQGAP2, IRX1, IRX2, IRX4, ISL1, ITGA1, JADE2, JAKMIP2, JMY, KCNIP1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF4B, KLHL3, LARS, LCP2, LECT2, LHFPL2, LNPEP, LOX, LPCAT1, LRRC14B, LSM11, LYSMD3, MAN2A1, MAP1B, MAP3K1, MARVELD2, MAST4, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED7, MEGF10, MFAP3, MGAT1, MROH2B, MRPS27, MRPS30, MSH3, MSX2, MTRR, MTX3, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFS4, NDUFS6, NIPAL4, NKD2, NKX2-5, NLN, NMUR2, NNT, NOP16, NPR3, NSA2, NSD1, NSG2, NUDT12, NUP155, OR2Y1, OSMR, OTP, OXCT1, PAPD7, PARP8, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB10, PCDHB11, PCDHB12, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC5, PCSK1, PDCD6, PDE8B, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLEKHG4B, PLK2, POC5, POLK, PPARGC1B, PPWD1, PRELID1, PROB1, PROP1, PRR16, RAD17, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS, RASGEF1C, RASGRF2, RBM22, RBM27, REEP5, RELL2, RGS7BP, RHOBTB3, RICTOR, RIOK2, RNF130, RNF44, RP11-45H22.3, RPS14, RPS23, S100Z, SAR1B, SCAMP1, SDHA, SEMA5A, SEMA6A, SEPT8, SETD9, SGCD, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SKP2, SLC12A7, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC30A5, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A7, SLC9A3, SLCO4C1, SLIT3, SLU7, SMAD5, SMIM3, SNX18, SOWAHA, SPATA24, SPDL1, SPEF2, SPINK5, SPINK6, SPINK9, SPZ1, SRA1, SRD5A1, SRFBP1, SSBP2, STK10, STK32A, SV2C, TBC1D9B, TBCA, TCERG1, TCF7, TENM2, TERT, TGFBI, THG1L, THOC3, TIGD6, TMCO6, TMEM161B, TMEM171, TMEM173, TNFAIP8, TNIP1, TNPO1, TPPP, TRIM36, TRIM41, TRIO, TRPC7, UGT3A1, UGT3A2, UIMC1, VCAN, WDR36, WDR41, WDR55, WNT8A, WWC1, ZDHHC11, ZDHHC11B, ZFP62, ZFR, ZFYVE16, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF879, ZRSR1,

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AFF4, AMACR, ANKH, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, C6, C7, CAST, CCT5, CEP120, COL4A3BP, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, GHR, GM2A, GRM6, GRXCR2, HAVCR1, HCN1, HEXB, HSD17B4, HSPA9, HSPB3, IL13, IL31RA, IL7R, KLHL3, LARS, MAP3K1, MARVELD2, MATR3, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NPR3, NSD1, NUP155, OSMR, OXCT1, PCSK1, PDE8B, PIK3R1, PITX1, PPARGC1B, PROP1, RARS, RPS14, SAR1B, SDHA, SGCD, SH3PXD2B, SH3TC2, SLC22A4, SLC22A5, SLC25A46, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SLC9A3, SPINK5, TERT, TGFBI, TMEM173, TRIO, VCAN, WDR36, WWC1,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
ADAMTS2 Ehlers-Danlos syndrome, type VIIC, 225410 (3)
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
{Obesity, susceptibility to}, 601665 (3)
AFF4 CHOPS syndrome, 616368 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
AP3B1 Hermansky-Pudlak syndrome 2, 608233 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies, 130070 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
DDX41 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
FBXO38 Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGFR4 {Cancer progression/metastasis} (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphedema, hereditary, IA, 153100 (3)
FOXI1 Enlarged vestibular aqueduct, 600791 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GM2A GM2-gangliosidosis, AB variant, 272750 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2 ?Deafness, autosomal recessive 101, 615837 (3)
HAVCR1 {Atopy, resistance to}, 147050 (3)
HCN1 Epileptic encephalopathy, early infantile, 24, 615871 (3)
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HSD17B4 D-bifunctional protein deficiency, 261515 (3)
Perrault syndrome 1, 233400 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
IL31RA Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MATR3 Amyotrophic lateral sclerosis 21, 606070 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3 Endometrial carcinoma, somatic, 608089 (3)
Familial adenomatous polyposis 4, 617100 (3)
MSX2 Craniosynostosis, type 2, 604757 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYOT Muscular dystrophy, limb-girdle, type 1A, 159000 (3)
Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NDUFS4 Leigh syndrome, 256000 (3)
Mitochondrial complex I deficiency, 252010 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NIPAL4 Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NKX2-5 Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
Conotruncal heart malformations, variable, 217095 (3)
Hypoplastic left heart syndrome 2, 614435 (3)
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 3, 614432 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NPR3 ?Hypertension, salt-resistant (1)
NSD1 Beckwith-Wiedemann syndrome, 130650 (3)
Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PCSK1 Obesity with impaired prohormone processing, 600955 (3)
{Obesity, susceptibility to, BMIQ12}, 612362 (3)
PDE8B Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
Striatal degeneration, autosomal dominant, 609161 (3)
PIK3R1 ?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
Immunodeficiency 36, 616005 (3)
SHORT syndrome, 269880 (3)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
PPARGC1B {Obesity, variation in}, 601665 (3)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SAR1B Chylomicron retention disease, 246700 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SGCD Cardiomyopathy, dilated, 1L, 606685 (3)
Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
SH3PXD2B Frank-ter Haar syndrome, 249420 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC22A5 Carnitine deficiency, systemic primary, 212140 (3)
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)
SLC26A2 Achondrogenesis Ib, 600972 (3)
Atelosteogenesis II, 256050 (3)
De la Chapelle dysplasia, 256050 (3)
Diastrophic dysplasia, 222600 (3)
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC36A2 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPINK5 Atopy, 147050 (3)
Netherton syndrome, 256500 (3)
TERT {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
TMEM173 STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR36 Glaucoma 1, open angle, G, 609887 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AFF4, AMACR, ANKH, AP3B1, APC, ARSB, B4GALT7, C6, C7, CAST, CCT5, CEP120, COL4A3BP, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, FBN2, FBXO38, FLT4, FOXI1, GHR, GM2A, GRM6, GRXCR2, HCN1, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, IL7R, KLHL3, LARS, MAP3K1, MARVELD2, MATR3, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NSD1, NUP155, OSMR, OXCT1, PCSK1, PDE8B, PIK3R1, PITX1, PROP1, RARS, SAR1B, SDHA, SGCD, SH3PXD2B, SH3TC2, SLC22A5, SLC25A46, SLC26A2, SLC36A2, SLC45A2, SLC6A19, SPINK5, TERT, TGFBI, TMEM173, VCAN,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
AFF4 Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
ANKH Chondrocalcinosis 2
Craniometaphyseal dysplasia
AP3B1 Hermansky-Pudlak syndrome 2
APC Desmoid disease, hereditary
Gardner syndrome
Familial adenomatous polyposis
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
COL4A3BP Mental retardation, autosomal dominant 34
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
DDX41 Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH Dimethylglycine dehydrogenase deficiency
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2 Immunodeficiency 40
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FBXO38 Neuronopathy, distal hereditary motor, type IID
FLT4 Lymphedema, hereditary I (Milory disease)
FOXI1 Pendred syndrome
Enlarged vestibular aqueduct
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GM2A GM2-gangliosidosis, AB variant
GRM6 Night blindness, congenital stationary, type 1B
GRXCR2 Deafness, autosomal recessive 101
HCN1 Epileptic encephalopathy, early infantile, 24
HEXB Sandhoff disease
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
HSPB3 Neuronopathy, distal hereditary motor, type IIC
IL31RA Amyloidois, primary localized cutaneous, 2
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
MAP3K1 46,XY sex reversal 6
MARVELD2 Deafness, autosomal recessive 49
MATR3 Amyotrophic lateral sclerosis 21
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSH3 Endometrial carcinoma
MSX2 Parietal foramina 1
Parietal foramina with cleidocranial dysplasia
Craniosynostosis, type 2
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT Myopathy, myofibrillar, 3
NDST1 Mental retardation, autosomal recessive 46
NDUFS4 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NIPAL4 Ichthyosis, congenital, autosomal recessive
NKX2-5 Hypothyroidism, congenital nongoitrous, 5
Conotruncal heart malformations
Atrial septal defect 7, with or without AV conduction defects
NNT Glucocorticoid deficiency 4
NSD1 Beckwith-Wiedemann syndrome
Weaver syndrome
Sotos syndrome
NUP155 Atrial fibrillation 15
OSMR Amyloidosis, primary localized cutaneous, 1
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PCSK1 Proprotein convertase 1/3 deficiency
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PITX1 Liebenberg syndrome
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
PROP1 Pituitary hormone deficiency, combined, 2
RARS Leukodystrophy, hypomyelinating 9
SAR1B Chylomicron retention disease (Anderson disease)
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SGCD Muscular dystrophy, limb-girdle, type 2F
Cardiomyopathy, dilated, 1L
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease, type 4C
SLC22A5 Carnitine deficiency, systemic primary
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SLC26A2 Epiphyseal dysplasia, multiple, 4
Diastrophic dysplasia
De la Chapelle dysplasia
Atelosteogenesis II
Achondrogenesis, type IB
SLC36A2 Iminoglycinuria, digenic
Iminoglycinuria
Hyperglycinuria
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SPINK5 Netherton syndrome
TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
Dyskeratosis congenita, autosomal recessive
Dyskeratosis congenita, autosomal dominant
Aplastic anemia
TGFBI Corneal dystrophy, epithelial basement membrane
Corneal dystrophy, Groenouw type I
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Avellino type
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy, lattice type I
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 3972
Number of Genes: 437

Export to: CSV

ABLIM3

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 hp37_1_filt_10x 5 rs13362048
dbSNP
148578636 323.77 T C PASS 0/1 23 None None None 0.52756 0.52760 0.12 0.00 None None None None None None None

AC005609.1

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 hp37_1_filt_10x 5 rs251369
dbSNP
140242479 96.77 T A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62760 0.62760 0.84 None None None None None None None
View hp37_1_filt_10x 5 rs11321479
dbSNP
140242451 130.73 GC G PASS 0/1 17 FRAME_SHIFT HIGH 0.63079 0.63080 None None None None None None None

AC008948.1

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 hp37_1_filt_10x 5 rs149085489
dbSNP
101570503 2004.73 CT... C PASS 0/1 65 CODON_DELETION MODERATE 0.40575 0.40580 None None None None None None None

AC010441.1

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 hp37_1_filt_10x 5 rs12653537
dbSNP
150158164 343.77 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15655 0.15650 0.08078 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs12657686
dbSNP
150158226 224.77 A C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15655 0.15650 0.07686 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs12653541
dbSNP
150158199 168.77 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15655 0.15650 0.07832 0.00 None None None None None None None

AC026703.1

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 hp37_1_filt_10x 5 rs1173756
dbSNP
32789852 1410.77 T C PASS 0/1 125 SYNONYMOUS_CODING LOW SILENT 0.62600 0.62600 0.40643 None None None None None None None

AC136604.1

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 hp37_1_filt_10x 5 rs6882398
dbSNP
179078940 905.77 T C PASS 1/1 41 SYNONYMOUS_CODING LOW SILENT 0.95248 0.95250 -1.09 None None None None None None None

AC138517.1

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 hp37_1_filt_10x 5 rs13153461
dbSNP
138852369 552.77 G A PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43431 0.43430 0.00 0.97 None None None None None None None

ACSL6

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 hp37_1_filt_10x 5 rs3043838
dbSNP
131324250 1985.73 C CTG PASS 1/1 46 None None None 0.51338 0.51340 0.37550 None None None None None None None

ACTBL2

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 hp37_1_filt_10x 5 . 56777909 496.77 A G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.65 None None None None None None None

ADAM19

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 hp37_1_filt_10x 5 rs1422795
dbSNP
156936364 525.77 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41454 0.41450 0.42873 0.23 0.03 None None None None None None None

ADAMTS12

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 hp37_1_filt_10x 5 rs1530507
dbSNP
33751454 302.77 A T PASS 0/1 29 None None None 0.55691 0.55690 None None None None None None None
View hp37_1_filt_10x 5 rs25754
dbSNP
33535060 167.77 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59964 0.59960 0.46125 0.19 0.63 None None None None None None None

ADAMTS16

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 hp37_1_filt_10x 5 rs6555335
dbSNP
5200281 759.77 C T PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.72524 0.72520 0.29491 None None None None None None None
View hp37_1_filt_10x 5 rs2086310
dbSNP
5146335 876.77 C G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69549 0.69550 0.24077 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs1019747
dbSNP
5146377 719.77 T C PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49441 0.49440 0.44242 0.05 0.01 None None None None None None None
View hp37_1_filt_10x 5 rs761712956
dbSNP
5237168 124.77 T C PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ADAMTS19

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 hp37_1_filt_10x 5 rs28630040
dbSNP
128844838 528.77 A G PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.12740 0.12740 0.10549 None None None None None None None

ADAMTS2

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 hp37_1_filt_10x 5 rs398829
dbSNP
178634672 138.77 C T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43191 0.43190 0.32516 0.48 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs423552
dbSNP
178634619 643.77 C T PASS 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.92452 0.92450 0.08473 None None None None None None None
View hp37_1_filt_10x 5 rs2271212
dbSNP
178770981 377.77 A G PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT 0.30895 None None None None None None None

ADRB2

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 hp37_1_filt_10x 5 rs1042719
dbSNP
148207447 211.77 G C PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.37420 0.37420 0.30924 None None None None None None None
View hp37_1_filt_10x 5 rs1042717
dbSNP
148206646 265.77 G A PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.31470 0.31470 0.24174 None None None None None None None
View hp37_1_filt_10x 5 rs1042714
dbSNP
148206473 323.78 G C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None None
View hp37_1_filt_10x 5 rs1042718
dbSNP
148206917 709.77 C A PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.29772 0.29770 0.22151 None None None None None None None
View hp37_1_filt_10x 5 rs1042720
dbSNP
148207633 149.77 G A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.50879 0.50880 0.39780 None None None None None None None

AFF4

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 hp37_1_filt_10x 5 rs739863
dbSNP
132232315 352.77 G A PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.00040 0.10520 0.11772 None None None None None None None

AGXT2

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 hp37_1_filt_10x 5 rs37370
dbSNP
35039486 415.77 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81050 0.81050 0.07220 0.36 0.00 None None None None None None None
View hp37_1_filt_10x 5 . 35032921 360.73 GAC G PASS 0/1 31 FRAME_SHIFT HIGH None None None None None None None
View hp37_1_filt_10x 5 rs466067
dbSNP
35010138 925.77 A G PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.89457 0.89460 0.04198 None None None None None None None

AHRR

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 hp37_1_filt_10x 5 rs2292596
dbSNP
422955 202.77 C G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30247 0.19 0.08 None None None None None None None

AMACR

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 hp37_1_filt_10x 5 rs2287939
dbSNP
33998883 417.77 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71486 0.71490 0.25135 0.33 0.01 None None None None None None None
View hp37_1_filt_10x 5 rs2278008
dbSNP
33989518 1385.77 C T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69609 0.69610 0.24089 0.95 0.00 None None None None None None None

ANKDD1B

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 hp37_1_filt_10x 5 rs9332464
dbSNP
74921686 710.77 G A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32468 0.32470 1.00 0.00 None None None None None None None

ANKH

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 hp37_1_filt_10x 5 rs2288474
dbSNP
14741984 385.77 T C PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.08387 0.08387 0.05828 None None None None None None None

ANKRD31

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 hp37_1_filt_10x 5 rs1422698
dbSNP
74443132 660.77 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58506 0.58510 0.48795 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs961098
dbSNP
74400386 508.77 G C PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21266 0.21270 0.13447 1.00 0.66 None None None None None None None
View hp37_1_filt_10x 5 rs1422699
dbSNP
74442410 141.85 G A PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT 0.58506 0.58510 None None None None None None None
View hp37_1_filt_10x 5 rs6888707
dbSNP
74442920 738.77 A G PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.58526 0.58530 0.48774 None None None None None None None
View hp37_1_filt_10x 5 rs2219745
dbSNP
74506658 76.77 C T PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.25879 0.25880 None None None None None None None
View hp37_1_filt_10x 5 rs10563854,rs796339850
dbSNP
74491715 680.73 TTCA T PASS 0/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.58147 0.58150 0.49535 None None None None None None None

ANKRD33B

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 hp37_1_filt_10x 5 rs1531839
dbSNP
10624887 224.77 T C PASS 0/1 27 None None None 0.51138 0.51140 0.01 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs11745612
dbSNP
10638180 207.77 T C PASS 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.37101 0.37100 0.43057 None None None None None None None

ANKRD34B

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 hp37_1_filt_10x 5 rs32857
dbSNP
79855372 214.77 A G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94249 0.94250 0.11141 1.00 0.00 None None None None None None None

ANXA6

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 hp37_1_filt_10x 5 rs11960458
dbSNP
150480520 313.77 C T PASS 0/1 27 None None None 0.23223 0.23220 0.00 0.36 None None None None None None None

AP3B1

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 hp37_1_filt_10x 5 rs6453373
dbSNP
77425028 355.78 A T PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06720 1.00 0.00 None None None None None None None

APBB3

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 hp37_1_filt_10x 5 rs250431
dbSNP
139940233 961.77 G A PASS 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.63139 0.63140 0.41227 None None None None None None None
View hp37_1_filt_10x 5 rs250430
dbSNP
139941228 624.77 A G PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90575 0.90580 0.11018 1.00 0.00 None None None None None None None

APC

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 hp37_1_filt_10x 5 rs351771
dbSNP
112164561 194.77 G A PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.66613 0.66610 0.41357 None None None None None None None
View hp37_1_filt_10x 5 rs2229992
dbSNP
112162854 260.77 T C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.50998 0.51000 0.46217 None None None None None None None
View hp37_1_filt_10x 5 rs41115
dbSNP
112175770 319.77 G A PASS 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.66554 0.66550 0.41378 None None None None None None None
View hp37_1_filt_10x 5 rs42427
dbSNP
112176325 268.77 G A PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.66673 0.66670 0.40987 None None None None None None None
View hp37_1_filt_10x 5 rs866006
dbSNP
112176559 436.77 T G PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.41201 None None None None None None None
View hp37_1_filt_10x 5 rs459552
dbSNP
112176756 483.77 T A PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs465899
dbSNP
112177171 264.77 G A PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.41309 None None None None None None None

AQPEP

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 hp37_1_filt_10x 5 rs1445708
dbSNP
115298977 68.77 C T PASS 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.38918 0.38920 0.34532 None None None None None None None
View hp37_1_filt_10x 5 rs10078759
dbSNP
115341638 310.77 G C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18292 0.02 0.59 None None None None None None None
View hp37_1_filt_10x 5 rs12520255
dbSNP
115298475 174.77 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs10078748
dbSNP
115341611 380.77 G T PASS 0/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.77676 0.77680 0.18315 None None None None None None None
View hp37_1_filt_10x 5 rs12522632
dbSNP
115298518 334.77 A G PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.17741 None None None None None None None
View hp37_1_filt_10x 5 rs17138646
dbSNP
115346245 251.77 T G PASS 0/1 28 None None None 0.00 None None None None None None None

ARAP3

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 hp37_1_filt_10x 5 rs417503
dbSNP
141059649 263.77 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.78335 0.78330 0.21659 None None None None None None None
View hp37_1_filt_10x 5 rs7703648
dbSNP
141036337 164.77 A G PASS 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.48143 0.48140 0.48808 None None None None None None None
View hp37_1_filt_10x 5 rs11167756
dbSNP
141059868 144.77 T C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.46566 0.46570 0.42826 None None None None None None None

ARHGAP26

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 hp37_1_filt_10x 5 rs2270068
dbSNP
142421415 1321.77 T G PASS 1/1 57 SYNONYMOUS_CODING LOW SILENT 0.88818 0.88820 0.00169 None None None None None None None

ARHGEF28

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 hp37_1_filt_10x 5 rs2973568
dbSNP
73144845 251.77 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.67632 0.67630 0.32967 None None None None None None None
View hp37_1_filt_10x 5 rs2973566
dbSNP
73148481 227.77 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16394 0.16390 0.23058 0.01 0.95 None None None None None None None
View hp37_1_filt_10x 5 rs2931423
dbSNP
73163831 172.77 C T PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.22264 0.22260 0.27751 None None None None None None None
View hp37_1_filt_10x 5 rs2973571
dbSNP
73142296 160.77 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17213 0.17210 0.23821 0.36 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs7716253
dbSNP
73090261 318.77 T C PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.61342 0.61340 0.39609 None None None None None None None
View hp37_1_filt_10x 5 rs6453022
dbSNP
73076511 276.77 C A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57788 0.57790 0.43045 0.67 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs17552682
dbSNP
73048819 160.77 G A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.00679 0.00679 0.00953 None None None None None None None
View hp37_1_filt_10x 5 rs7714670
dbSNP
73072354 174.77 T C PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37041 0.37040 0.42150 0.37 0.00 None None None None None None None

ARHGEF37

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 hp37_1_filt_10x 5 rs4629585
dbSNP
149001551 208.77 A C PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43690 0.43690 0.36393 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs55915030
dbSNP
149003627 278.77 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11821 0.11820 0.11017 0.19 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs9324624
dbSNP
149006640 220.77 C T PASS 0/1 22 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.37560 0.37560 0.47589 0.00 0.99 None None None None None None None
View hp37_1_filt_10x 5 rs1056993
dbSNP
149008403 536.77 A G PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.67213 0.67210 0.31076 None None None None None None None

ARL10

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 hp37_1_filt_10x 5 rs2303667
dbSNP
175792605 446.77 G C PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.55651 0.55650 0.41598 None None None None None None None

ARL14EPL

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 hp37_1_filt_10x 5 rs6880759
dbSNP
115394626 484.77 G A PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.07208 0.67630 None None None None None None None

ARL15

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 hp37_1_filt_10x 5 rs35941
dbSNP
53606295 884.77 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.82648 0.82650 0.12791 None None None None None None None

ARSB

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 hp37_1_filt_10x 5 rs25413
dbSNP
78135201 343.77 C T PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.25919 0.25920 0.29179 None None None None None None None

ARSI

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 hp37_1_filt_10x 5 rs6579784
dbSNP
149677851 1199.77 A G PASS 1/1 48 SYNONYMOUS_CODING LOW SILENT 0.99880 0.99880 0.00584 None None None None None None None

ATG10

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 hp37_1_filt_10x 5 rs1864183
dbSNP
81549216 586.77 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52077 0.52080 0.37744 0.32 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs3734114
dbSNP
81354389 555.77 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19010 0.19010 0.16116 0.29 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs1864182
dbSNP
81549240 573.77 C A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56190 0.56190 0.44556 0.00 0.89 None None None None None None None

ATP10B

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 hp37_1_filt_10x 5 rs958912
dbSNP
160097496 817.77 A G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86162 0.86160 0.14734 0.39 0.00 None None None None None None None

B4GALT7

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 hp37_1_filt_10x 5 rs729459
dbSNP
177035964 811.77 T C PASS 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.60503 0.60500 0.42519 None None None None None None None
View hp37_1_filt_10x 5 rs11537644
dbSNP
177031348 290.78 T C PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.66134 0.66130 0.36735 None None None None None None None

BDP1

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 hp37_1_filt_10x 5 rs715747
dbSNP
70806711 261.77 C G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79074 0.79070 0.22814 0.15 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs182190
dbSNP
70840233 114.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.39896 0.39900 0.42819 None None None None None None None
View hp37_1_filt_10x 5 rs3748043
dbSNP
70751818 49.77 T G PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77816 0.77820 0.23286 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs3761967
dbSNP
70800538 67.77 G A PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43271 0.43270 0.44776 0.13 0.15 None None None None None None None
View hp37_1_filt_10x 5 rs715748
dbSNP
70806457 218.77 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43970 0.43970 0.45004 0.25 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs1961760
dbSNP
70806649 167.77 T A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43990 0.43990 0.45353 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs6886336
dbSNP
70806958 430.77 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82109 0.82110 0.19709 0.46 0.00 None None None None None None None
View hp37_1_filt_10x 5 rs6453014
dbSNP
70837295 69.77 A C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82268 0.82270 0.19623 1.00 0.00 None None None None None None None

BHMT

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 hp37_1_filt_10x 5 rs3733890
dbSNP
78421959 766.77 G A PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29074 0.29070 0.27403 0.02 0.00 None None None None None None None

BHMT2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View hp37_1_filt_10x 5 . 78378658 278.77 G A PASS 0/1 28 SYNONYMOUS_CODING LOW SILENT None None None None None None None