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+ Genes 205

+ Genes associated with diseases 78

Genes at Omim

ACADS, ACVR1, ADA, ADAMTS13, ADCK3, ALAD, ALDH4A1, AQP2, ASS1, BARD1, CA2, CAD, CAMK2B, CBS, CHI3L1, COMT, CPOX, CRYBA4, CRYM, CSF1R, CTPS1, CYP11B2, CYP21A2, CYP2B6, CYP2D6, DPP6, DSP, EGFR, EP300, EPHB2, EPHB4, ERCC1, F11, FDFT1, FGFR2, GBE1, GGT1, GLRX5, GPD1, HAAO, HBB, INPP5E, ISG15, KRAS, KYNU, LMAN1, LRP6, MAP3K8, MAT1A, MEFV, MOCS2, NCF2, NEK2, NOTCH2, NT5E, NTRK1, OAT, P4HB, PADI4, PCK1, PCSK9, PMS2, PRKCD, PRNP, PSAT1, RIPK1, ROR2, SEC23A, SNRNP200, SUFU, TDO2, TIRAP, TLR3, TPH2, TRPV4, VWF, WARS, XDH,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ASS1 Citrullinemia, 215700 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CTPS1 Immunodeficiency 24, 615897 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KYNU ?Hydroxykynureninuria, 236800 (3)
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MOCS2 Molybdenum cofactor deficiency B, 252160 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NT5E Calcification of joints and arteries, 211800 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PRNP Gerstmann-Straussler disease, 137440 (3)
{Kuru, susceptibility to}, 245300 (3)
Cerebral amyloid angiopathy, PRNP-related, 137440 (3)
Huntington disease-like 1, 603218 (3)
Creutzfeldt-Jakob disease, 123400 (3)
Insomnia, fatal familial, 600072 (3)
Prion disease with protracted course, 606688 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XDH Xanthinuria, type I, 278300 (3)

Genes at Clinical Genomics Database

ACADS, ACVR1, ADA, ADAMTS13, ADCK3, ALAD, ALDH4A1, AQP2, ASS1, BARD1, CA2, CAD, CBS, COMT, CPOX, CRYBA4, CRYM, CSF1R, CTPS1, CYP11B2, CYP21A2, CYP2B6, CYP2D6, DPP6, DSP, EGFR, EP300, ERCC1, F11, FGFR2, GBE1, GLRX5, GPD1, HBB, HDAC4, INPP5E, ISG15, KRAS, KYNU, LMAN1, LRP6, MAT1A, MEFV, MOCS2, NCF2, NEK2, NOTCH2, NT5E, NTRK1, OAT, P4HB, PCSK9, PMS2, PRKCD, PRNP, PSAT1, ROR2, SEC23A, SNRNP200, SUFU, TLR3, TRAP1, TRPV4, VWF, XDH,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
AQP2 Diabetes insipidus, nephrogenic, autosomal
ASS1 Citrullinemia
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CAD Congenital disorder of glycosylation, type Iz
CBS Homocystinuria due to cystathionine beta-synthase deficiency
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CTPS1 Immunodeficiency 24
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2B6 Efavirenz, poor metabolism of
CYP2D6 Drug metabolism, CYP2CD6-related
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
EP300 Rubinstein-Taybi syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
F11 Factor XI deficiency
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
GBE1 Glycogen storage disease IV
GLRX5 Anemia, sideroblastic 3, pyridoxine-refractory
GPD1 Hypertriglyceridemia, transient infantile
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HDAC4 Brachydacytly-mental retardation syndrome
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
ISG15 Immunodeficiency 38, with basal ganglia calcification
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KYNU Hydroxykynureninuria
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MOCS2 Molybdenum cofactor deficiency, type B
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NOTCH2 Alagille syndrome 2
NT5E Calcification of joints and arteries
NTRK1 Insensitivity to pain, congenital, with anhidrosis
OAT Gyrate atrophy of choroid and retina
P4HB Cole Carpenter syndrome 1
PCSK9 Hypercholesterolemia, familial, 3
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PRKCD Autoimmune lymphoproliferative syndrome type III
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PSAT1 Phosphoserine aminotransferase deficiency
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SEC23A Craniolenticulosutural dysplasia
SNRNP200 Retinitis pigmentosa 33
SUFU Medulloblastoma
Basal cell nevus syndrome
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
XDH Xanthinuria, type I

Genes at HGMD

Summary

Number of Variants: 274
Number of Genes: 205

Export to: CSV

ACACB
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 combined sample_57.variant20 12 rs11065772
dbSNP Clinvar 		109617865 1130.28 T C PASS 1/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS
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 combined sample_57.variant20 12 rs3914
dbSNP Clinvar 		121174899 1516.31 T C PASS 0/1 138 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY
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 combined sample_57.variant20 17 rs8065502
dbSNP Clinvar 		40048613 5415.34 A G PASS 1/1 198 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACSM2A
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 combined sample_57.variant20 16 rs1700805
dbSNP Clinvar 		20488696 525.12 A G PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACTR8
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 combined sample_57.variant20 3 rs4687757
dbSNP Clinvar 		53906513 1548.79 G A PASS 0/1 85 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69030 0.69030 0.48293 None None None None None None ACTR8|0.331819735|25.35%

ACVR1
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 combined sample_57.variant20 2 rs1146031
dbSNP Clinvar 		158626980 3016.07 C T PASS 1/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA
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 combined sample_57.variant20 20 rs394105
dbSNP Clinvar 		43264927 3088.17 C T PASS 1/1 123 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM8
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 combined sample_57.variant20 10 rs1131720
dbSNP Clinvar 		135085321 3841.47 C T PASS 1/1 146 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS13
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 combined sample_57.variant20 9 rs3124768
dbSNP Clinvar 		136304497 5268.23 A G PASS 0/1 182 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADCK3
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 combined sample_57.variant20 1 rs748118737
dbSNP Clinvar 		227170436 885.39 C T PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.99 None None None None None None ADCK3|0.102470418|50.69%
View combined sample_57.variant20 1 rs12593
dbSNP Clinvar 		227172290 1821.35 C T PASS 1/1 266 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%
View combined sample_57.variant20 1 rs3738725
dbSNP Clinvar 		227174210 537.19 T C PASS 1/1 179 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%

ADRBK1
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 combined sample_57.variant20 11 rs2228418
dbSNP Clinvar 		67034266 2254.6 C A PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AKR1B10
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 combined sample_57.variant20 7 rs28545160
dbSNP Clinvar 		134221826 481.09 A G PASS 0/1 61 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None -1.27 0.00 0.05289 T None None None None AKR1B10|0.014962544|77.15%

AKR1C1
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 combined sample_57.variant20 10 rs1138600
dbSNP Clinvar 		5010572 490.13 A G PASS 1/1 16 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

ALAD
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 combined sample_57.variant20 9 rs1139488
dbSNP Clinvar 		116153900 1653.0 A G PASS 0/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH4A1
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 combined sample_57.variant20 1 rs7550938
dbSNP Clinvar 		19202917 1972.77 T C PASS 1/1 52 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View combined sample_57.variant20 1 rs2230705
dbSNP Clinvar 		19203997 723.36 C G PASS 1/1 116 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View combined sample_57.variant20 1 rs2230708
dbSNP Clinvar 		19201956 2312.56 A G PASS 1/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%

ALKBH3
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 combined sample_57.variant20 11 rs1048928
dbSNP Clinvar 		43940644 2493.17 G T PASS 0/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 17 rs11541083
dbSNP Clinvar 		7950377 1588.27 C T PASS 0/1 149 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View combined sample_57.variant20 17 rs9898751
dbSNP Clinvar 		7950952 345.03 C A PASS 0/1 85 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View combined sample_57.variant20 17 rs6503070
dbSNP Clinvar 		7948175 284.31 C T PASS 0/1 59 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%

ANPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 15 rs748469802
dbSNP Clinvar 		90347224 51.97 T C DRAGENHardSNP 0/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.03 0.81 None None None None None None ANPEP|0.009750059|81.03%
View combined sample_57.variant20 15 rs25651
dbSNP Clinvar 		90335788 572.99 C T PASS 0/1 80 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35064 0.35060 0.37537 1.00 0.00 None None None None None None ANPEP|0.009750059|81.03%
View combined sample_57.variant20 15 . 90347209 66.85 C T DRAGENHardSNP 0/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.69 0.01 None None None None None None ANPEP|0.009750059|81.03%
View combined sample_57.variant20 15 . 90347210 108.84 T C DRAGENHardSNP 0/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67 0.01 None None None None None None ANPEP|0.009750059|81.03%

APOBEC3F
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 22 rs12157816
dbSNP Clinvar 		39448275 1461.64 A G PASS 0/1 189 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01637 0.01637 0.01692 0.01 0.17 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 12 rs426496
dbSNP Clinvar 		50348078 1286.11 T C PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ASS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 9 rs10901072
dbSNP Clinvar 		133346226 2127.49 C T PASS 0/1 160 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

BACH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 6 rs2236181
dbSNP Clinvar 		90661576 347.71 T C PASS 0/1 118 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%

BARD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 2 rs2070093
dbSNP Clinvar 		215632256 4685.21 A G PASS 1/1 155 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.77057 0.77060 0.28618 None None None None None None BARD1|0.230178617|33.35%

C9orf89
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 9 rs17593496
dbSNP Clinvar 		95872885 2692.72 C T PASS 0/1 317 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 8 rs703
dbSNP Clinvar 		86389403 1899.27 T C PASS 0/1 203 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 2 rs1141313
dbSNP Clinvar 		27460968 1638.29 A G PASS 0/1 198 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%

CAMK2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 7 rs11542227
dbSNP Clinvar 		44282877 1980.36 A G PASS 0/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20986 0.20990 0.28149 None None None None None None CAMK2B|0.490715837|16.28%
View combined sample_57.variant20 7 rs11542228
dbSNP Clinvar 		44282868 906.87 A G PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33566 0.33570 0.39905 None None None None None None CAMK2B|0.490715837|16.28%

CAPN9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs2282319
dbSNP Clinvar 		230898494 1742.51 C T PASS 0/1 120 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33287 0.33290 0.33731 None None None None None None CAPN9|0.040556214|65.59%

CBR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 21 rs881711
dbSNP Clinvar 		37507745 5661.88 C T PASS 1/1 296 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%
View combined sample_57.variant20 21 rs881712
dbSNP Clinvar 		37507769 2216.91 C T PASS 0/1 256 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%

CBS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 21 rs234706
dbSNP Clinvar 		44485350 2462.08 G A PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.19649 0.19650 0.30609 None None None None None None CBS|0.170288794|40.28%

CD180
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 5 rs1697144
dbSNP Clinvar 		66480004 4017.8 T C PASS 1/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CHI3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs880633
dbSNP Clinvar 		203152801 3622.53 T C PASS 1/1 119 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None CHI3L1|0.048433283|63.15%
View combined sample_57.variant20 1 rs4950927
dbSNP Clinvar 		203148633 1941.93 A G PASS 1/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99960 0.99960 0.00185 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs2494007
dbSNP Clinvar 		111783996 1045.41 A G PASS 1/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs2275253
dbSNP Clinvar 		111861841 993.55 A G PASS 1/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CKB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 14 rs1803283
dbSNP Clinvar 		103986255 763.67 C T PASS 0/1 88 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.63898 0.63900 0.41609 None None None None None None CKB|0.155239483|42.26%
View combined sample_57.variant20 14 rs1136165
dbSNP Clinvar 		103988180 1031.14 G T PASS 0/1 90 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65775 0.65770 0.36631 None None None None None None CKB|0.155239483|42.26%

CLC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 19 rs384138
dbSNP Clinvar 		40224986 1860.74 A G PASS 1/1 179 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60923 0.60920 0.30071 None None None None None None CLC|0.000863861|96.26%

COMT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 22 rs4633
dbSNP Clinvar 		19950235 2200.52 C T PASS 0/1 245 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37161 0.37160 0.46009 None None None None None None COMT|0.166055932|40.8%
View combined sample_57.variant20 22 rs4680
dbSNP Clinvar 		19951271 1514.7 G A PASS 0/1 178 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36921 0.36920 0.45148 0.09 0.22 None None None None None None COMT|0.166055932|40.8%
View combined sample_57.variant20 22 rs4818
dbSNP Clinvar 		19951207 1622.6 C G PASS 0/1 195 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%

CPOX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 3 rs1729995
dbSNP Clinvar 		98304467 1520.27 T C PASS 1/1 74 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.75399 0.75400 0.25611 None None None None None None CPOX|0.108402411|49.49%

CRYBA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 22 rs5761637
dbSNP Clinvar 		27021457 1529.5 T C PASS 1/1 233 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 16 rs14122
dbSNP Clinvar 		21272591 511.41 G C PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50260 0.50260 0.46853 None None None None None None CRYM|0.245016591|32%

CRYZ
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs7527057
dbSNP Clinvar 		75172001 2157.25 T A PASS 1/1 152 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21645 0.21650 0.34113 None None None None None None CRYZ|0.12483251|46.66%

CSF1R
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 5 rs10079250
dbSNP Clinvar 		149450132 1766.32 T C PASS 0/1 114 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15336 0.15340 0.07377 0.02 0.09 None None None None None None CSF1R|0.136347301|44.94%

CTDSP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 12 rs76940645
dbSNP Clinvar 		58220816 2503.62 A G PASS 0/1 260 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08 0.82 None None None None None None CTDSP2|0.553853126|13.56%
View combined sample_57.variant20 12 rs747149135
dbSNP Clinvar 		58220831 1112.61 C G PASS 0/1 241 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.47 None None None None None None CTDSP2|0.553853126|13.56%
View combined sample_57.variant20 12 rs111346934
dbSNP Clinvar 		58220823 2539.33 C T PASS 0/1 259 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37 0.32 None None None None None None CTDSP2|0.553853126|13.56%
View combined sample_57.variant20 12 rs1056200123
dbSNP Clinvar 		58220819 537.53 A G PASS 0/1 261 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.82 None None None None None None CTDSP2|0.553853126|13.56%
View combined sample_57.variant20 12 rs74343811
dbSNP Clinvar 		58220841 2407.36 C T PASS 0/1 230 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07 0.89 None None None None None None CTDSP2|0.553853126|13.56%

CTPS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs5030799
dbSNP Clinvar 		41454328 1444.09 A G PASS 0/1 140 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04493 0.04493 0.01792 None None None None None None CTPS1|0.728778788|7.7%

CYP11B2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 8 rs4539
dbSNP Clinvar 		143996539 5477.74 T C PASS 0/1 426 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.03 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View combined sample_57.variant20 8 rs4538
dbSNP Clinvar 		143994702 1283.25 G T PASS 1/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP21A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 6 rs6464
dbSNP Clinvar 		32006337 3069.99 C A PASS 1/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP21A2|0.039907204|65.79%
View combined sample_57.variant20 6 rs6469
dbSNP Clinvar 		32008451 517.99 C T DRAGENHardSNP 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP21A2|0.039907204|65.79%

CYP2B6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 19 rs3745274
dbSNP Clinvar 		41512841 2323.62 G T PASS 1/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31570 0.31570 0.29040 0.37 0.01 None None None None None None CYP2B6|0.387124666|21.59%

CYP2D6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 22 rs202102799
dbSNP Clinvar 		42523558 501.46 T C PASS 0/1 430 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None CYP2D6|0.040319287|65.66%
View combined sample_57.variant20 22 rs28371726
dbSNP Clinvar 		42523539 790.71 A G PASS 0/1 445 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None CYP2D6|0.040319287|65.66%
View combined sample_57.variant20 22 rs1058172
dbSNP Clinvar 		42523528 968.66 C T PASS 0/1 440 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 1.00 None None None None None None CYP2D6|0.040319287|65.66%

DDR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 6 rs2229933
dbSNP Clinvar 		30857072 2747.9 G C PASS 0/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41534 0.41530 0.20763 None None None None None None DDR1|0.244168042|32.07%
View combined sample_57.variant20 6 rs1049622
dbSNP Clinvar 		30858857 3408.62 C T PASS 0/1 137 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.41554 0.41550 0.20802 None None None None None None DDR1|0.244168042|32.07%

DLG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 3 rs1134986
dbSNP Clinvar 		196865242 895.86 C T PASS 0/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12800 0.12800 0.10597 0.18 0.02 None None None None None None DLG1|0.817144992|5.37%

DPP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 7 rs3807218
dbSNP Clinvar 		154461112 2806.55 A G PASS 0/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%
View combined sample_57.variant20 7 rs56091483
dbSNP Clinvar 		154561188 1281.57 C T PASS 0/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09685 0.09685 0.08817 None None None None None None DPP6|0.155216903|42.27%

DPYSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 8 rs327222
dbSNP Clinvar 		26481771 1713.09 T C PASS 1/1 212 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DSP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 6 rs2076300
dbSNP Clinvar 		7584617 1335.95 C T PASS 1/1 87 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.21166 0.21170 0.30225 None None None None None None DSP|0.573194355|12.87%

DUS2
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 combined sample_57.variant20 16 rs11555011
dbSNP Clinvar 		68088485 3583.46 A G PASS 0/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12161 0.12160 0.12342 None None None None None None DUS2|0.231209011|33.27%

DUSP12
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 combined sample_57.variant20 1 rs1063178
dbSNP Clinvar 		161721707 4371.28 C T PASS 0/1 172 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

DUSP5
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 combined sample_57.variant20 10 rs1889567
dbSNP Clinvar 		112266771 2436.78 C T PASS 1/1 118 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.28355 0.28350 0.31355 None None None None None None DUSP5|0.355332181|23.78%

EBF1
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 combined sample_57.variant20 5 rs1368298
dbSNP Clinvar 		158204425 594.98 A G PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59345 0.59350 0.43703 None None None None None None EBF1|0.999818623|0.23%

ECHDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 10 rs7899215
dbSNP Clinvar 		11797436 8574.48 T C PASS 1/1 338 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%

EGFR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 7 rs1050171
dbSNP Clinvar 		55249063 1395.1 G A PASS 0/1 101 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%

ENPP4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 6 rs7451713
dbSNP Clinvar 		46107752 1417.65 C G PASS 0/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45168 0.45170 0.43957 0.12 0.01 None None None None None None ENPP4|0.141883971|44.16%
View combined sample_57.variant20 6 rs9472696
dbSNP Clinvar 		46108916 1726.92 C G PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.09345 0.09345 0.09177 None None None None None None ENPP4|0.141883971|44.16%

EP300
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 22 rs20552
dbSNP Clinvar 		41551039 3630.04 T A PASS 0/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67392 0.67390 0.41689 None None None None None None EP300|0.997012534|0.67%

EPHB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 1 rs28936395
dbSNP Clinvar 		23233346 2580.62 G A PASS 0/1 218 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00120 0.00120 0.00508 0.04 0.94 None None None None None None EPHB2|0.948206989|2.31%

EPHB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 7 rs56173078
dbSNP Clinvar 		100420155 2386.19 A G PASS 0/1 281 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08866 0.08866 0.09919 None None None None None None EPHB4|0.43630977|18.88%

ERAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 5 rs30187
dbSNP Clinvar 		96124330 4924.14 T C PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59625 0.59620 0.37244 0.05 0.50 None None None None None None ERAP1|0.109230521|49.33%
View combined sample_57.variant20 5 rs17482078
dbSNP Clinvar 		96118866 918.41 C T PASS 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10064 0.10060 0.16792 0.04 0.18 None None None None None None ERAP1|0.109230521|49.33%

ERAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 5 rs2549782
dbSNP Clinvar 		96231000 1554.99 G T PASS 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.55272 0.55270 0.45902 1.00 0.00 None None None None None None ERAP2|0.036210068|67.06%

ERCC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 19 rs11615
dbSNP Clinvar 		45923653 715.15 A G PASS 0/1 169 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66893 0.66890 0.45994 None None None None None None ERCC1|0.17437384|39.74%

ERN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 17 rs196912
dbSNP Clinvar 		62121480 6188.6 T C PASS 1/1 203 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.58187 0.58190 0.38423 None None None None None None ERN1|0.1172536|47.89%

ESRRA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 11 rs72924126
dbSNP Clinvar 		64083252 196.61 T C PASS 0/1 218 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None ESRRA|0.285985685|28.66%
View combined sample_57.variant20 11 rs759464632
dbSNP Clinvar 		64083295 1046.11 CGGG C PASS 0/1 190 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02749 None None None None None None ESRRA|0.285985685|28.66%
View combined sample_57.variant20 11 rs80310817
dbSNP Clinvar 		64083331 930.14 C T PASS 0/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.02 0.27 None None None None None None ESRRA|0.285985685|28.66%

F11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 4 rs5976
dbSNP Clinvar 		187209729 930.31 G A PASS 0/1 117 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05831 0.05831 0.04659 None None None None None None F11|0.02399549|72.21%

FAM96A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 15 rs332259
dbSNP Clinvar 		64385851 1462.51 T C PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91693 0.91690 0.08765 None None None None None None FAM96A|0.609063314|11.48%

FASN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_57.variant20 17 rs2228309
dbSNP Clinvar 		80051183 5130.82 A G PASS 0/1 184 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.39177 0.39180 0.45840 None None None None None None FASN|0.307148829|27.07%