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Genes:
ABHD12, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADNP, ADRA1D, ADRM1, ANKEF1, ANKRD60, ARFRP1, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA3, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf194, C20orf196, C20orf201, C20orf26, C20orf96, CABLES2, CBFA2T2, CD93, CDH4, CDK5RAP1, CEBPB, CHGB, CHRNA4, COL20A1, COL9A3, CRLS1, CRNKL1, CSRP2BP, CST1, CST3, CST4, CST5, CST7, CST8, CST9, CSTL1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB128, DEFB132, DHX35, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EBF4, EEF1A2, EFCAB8, ELMO2, ENTPD6, EPPIN, ESF1, FAM110A, FAM182B, FAM209B, FAM65C, FAM83D, FERMT1, FITM2, FLRT3, FOXA2, FRG1B, GATA5, GFRA4, GINS1, GMEB2, GNAS, GNRH2, GPCPD1, HELZ2, HSPA12B, IFT52, JAG1, JPH2, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, L3MBTL1, LAMA5, LAMP5, LBP, LRRN4, LZTS3, MATN4, MGME1, MMP24, MMP9, MROH8, MTG2, MYBL2, MYH7B, MYT1, NCOA3, NCOA5, NCOA6, NECAB3, NELFCD, NINL, NKAIN4, NOP56, NPBWR2, NPEPL1, NRSN2, NTSR1, OCSTAMP, OGFR, OTOR, PABPC1L, PAK7, PANK2, PAX1, PCED1A, PCK1, PCMTD2, PI3, PIGT, PLCB1, PLCB4, PMEPA1, POFUT1, POLR3F, PPP1R16B, PPP4R1L, PREX1, PRND, PRNP, PROKR2, PRPF6, PSMA7, PSMF1, PTK6, PTPRA, PTPRT, PXMP4, R3HDML, RAD21L1, RALGAPA2, RALGAPB, RALY, RBBP8NL, RBCK1, RBM12, RBPJL, REM1, RIN2, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RP11-93B14.6, RPN2, RPS21, RRBP1, RTEL1, RTEL1-TNFRSF6B, SALL4, SAMD10, SCP2D1, SDCBP2, SEC23B, SEL1L2, SEMG1, SEMG2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SMOX, SNPH, SNX21, SOGA1, SPATA2, SPINT3, SPINT4, SPTLC3, SRC, SRMS, SRSF6, SSTR4, STK4, STX16, SULF2, SUN5, TAF4, TCF15, TGM2, TGM3, TGM6, TMC2, TMEM189-UBE2V1, TMX4, TNFRSF6B, TP53TG5, TPX2, TRMT6, TSHZ2, TTLL9, TUBB1, UBE2V1, UBOX5, UQCC1, VPS16, VSX1, WFDC10B, WFDC3, WFDC5, YWHAB, ZBP1, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF217, ZNF334, ZNF335, ZNF341, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

Genes at Omim

ABHD12, ADA, ADNP, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DDRGK1, DNMT3B, EEF1A2, ELMO2, FERMT1, FLRT3, GATA5, GINS1, GNAS, IFT52, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PAX1, PCK1, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, RBCK1, RBM12, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TUBB1, VSX1, ZNF335, ZNF341,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADNP Helsmoortel-van der Aa syndrome, 615873 (3)
ASXL1 Bohring-Opitz syndrome, 605039 (3)
Myelodysplastic syndrome, somatic, 614286 (3)
AURKA {Colon cancer, susceptibility to}, 114500 (3)
BFSP1 Cataract 33, multiple types, 611391 (3)
BMP2 {HFE hemochromatosis, modifier of}, 235200 (3)
Brachydactyly, type A2, 112600 (3)
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4 {Nicotine addiction, susceptibility to}, 188890 (3)
Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3 {Intervertebral disc disease, susceptibility to}, 603932 (3)
Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3 Cerebral amyloid angiopathy, 105150 (3)
{Macular degeneration, age-related, 11}, 611953 (3)
CTSA Galactosialidosis, 256540 (3)
CYP24A1 Hypercalcemia, infantile, 1, 143880 (3)
DDRGK1 Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
EEF1A2 Epileptic encephalopathy, early infantile, 33, 616409 (3)
Mental retardation, autosomal dominant 38, 616393 (3)
ELMO2 Vascular malformation, primary intraosseous, 606893 (3)
FERMT1 Kindler syndrome, 173650 (3)
FLRT3 Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GATA5 Congenital heart defects, multiple types, 5, 617912 (3)
GINS1 Immunodeficiency 55, 617827 (3)
GNAS ACTH-independent macronodular adrenal hyperplasia, 219080 (3)
McCune-Albright syndrome, somatic, mosaic 174800 (3)
Osseous heteroplasia, progressive, 166350 (3)
Pituitary adenoma 3, multiple types, somatic, 617686 (3)
Pseudohypoparathyroidism Ia, 103580 (3)
Pseudohypoparathyroidism Ib, 603233 (3)
Pseudohypoparathyroidism Ic, 612462 (3)
Pseudopseudohypoparathyroidism, 612463 (3)
IFT52 Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
JAG1 Alagille syndrome 1, 118450 (3)
?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3)
Tetralogy of Fallot, 187500 (3)
JPH2 Cardiomyopathy, hypertrophic, 17, 613873 (3)
KCNQ2 Epileptic encephalopathy, early infantile, 7, 613720 (3)
Myokymia, 121200 (3)
Seizures, benign neonatal, 1, 121200 (3)
MGME1 Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9 Metaphyseal anadysplasia 2, 613073 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PANK2 HARP syndrome, 607236 (3)
Neurodegeneration with brain iron accumulation 1, 234200 (3)
PAX1 ?Otofaciocervical syndrome 2, 615560 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)
?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4 Auriculocondylar syndrome 2, 614669 (3)
POFUT1 Dowling-Degos disease 2, 615327 (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)
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
RBCK1 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RBM12 {Schizophrenia 19, susceptibility to}, 617629 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RTEL1 Dyskeratosis congenita, autosomal dominant 4, 615190 (3)
Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4 IVIC syndrome, 147750 (3)
Duane-radial ray syndrome, 607323 (3)
SEC23B Dyserythropoietic anemia, congenital, type II, 224100 (3)
?Cowden syndrome 7, 616858 (3)
SLC12A5 Epileptic encephalopathy, early infantile, 34, 616645 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3 Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
?Fazio-Londe disease, 211500 (3)
SRC Colon cancer, advanced, somatic, 114500 (3)
?Thrombocytopenia 6, 616937 (3)
STK4 T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
STX16 Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5 Spermatogenic failure 16, 617187 (3)
TGM3 ?Uncombable hair syndrome 2, 617251 (3)
TGM6 Spinocerebellar ataxia 35, 613908 (3)
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341 Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ADNP, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, EEF1A2, FERMT1, FLRT3, GNAS, JAG1, JPH2, KCNQ2, MGME1, MMP9, NOP56, PANK2, PAX1, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PRPF6, RBCK1, RIN2, RTEL1, SALL4, SEC23B, SLC12A5, SLC17A9, SLC4A11, SLC52A3, SRC, STK4, STX16, TGM6, TUBB1, VSX1, ZNF335,
ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADNP Helsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)
ASXL1 Bohring-Opitz syndrome
BFSP1 Cataract, cortical, juvenile-onset
BMP2 Brachydactyly, type A2
CHRNA4 Epilepsy, nocturnal frontal lobe, type 1
COL9A3 Epiphyseal dysplasia, multiple, 3
CST3 Cerebral amyloid angiopathy
CTSA Galactosialidosis
CYP24A1 1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
EEF1A2 Epileptic encephalopathy, early infantile, 33
Mental retardation, autosomal dominant 28
FERMT1 Kindler syndrome
FLRT3 Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS Pseudohypoparathyroidism, type IA
Pseudohypoparathyroidism, type IB
Pseudohypoparathyroidism, type IC
Progressive osseous heteroplasia
McCune-Albright syndrome
JAG1 Alagille syndrome
JPH2 Cardiomyopathy, familial hypertrophic 17
KCNQ2 Epileptic encephalopathy, early infantile, 7
Benign familial neonatal seizures, 1
Myokymia
MGME1 Mitochondrial DNA depletion syndrome 11
MMP9 Metaphyseal anadysplasia 2
NOP56 Spinocerebellar ataxia 36
PANK2 Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Neurodegeneration with brain iron accumulation 1
PAX1 Otofaciocervical syndrome 2
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLCB4 Auriculocondylar syndrome 2
POFUT1 Dowling-Degos disease 2
PRNP Spongiform encephalopathy with neuropsychiatric features
Huntington disease-like 1
Gerstmann-Straussler disease
Creutzfeldt-Jakob disease
Insomnia, fatal familial
Dementia, Lewy body
PROKR2 Hypogonadotropic hypogonadism 3 with or without anosmia
PRPF6 Retinitis pigmentosa 60
RBCK1 Polyglucosan body myopathy 1
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1 Pulmonary fibrosis and/or bone marrow failure, telomere-related 3
Dyskeratosis congenita, autosomal dominant 4
Dyskeratosis congenita, autosomal recessive 5
SALL4 Duane-radial ray/Okohiro syndrome
Acro-Renal-Ocular syndrome
SEC23B Cowden syndrome 7
Anemia, dyserythropoietic congenital, type II
SLC12A5 Epileptic encephalopathy, early infantile, 34
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC4A11 Cryohydrocytosis
SLC52A3 Brown-Vialetto-Van Laere syndrome 1
Fazio-Londe disease
SRC Thrombocytopenia, autosomal dominant, 6
STK4 T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations
STX16 Pseudohypoparathyroidism, type IB
TGM6 Spinocerebellar ataxia 35
TUBB1 Macrothrombocytopenia, autosomal dominant, TUBB1-related
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 3939
Number of Genes: 262

Export to: CSV

ABHD12

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_51.variant15 20 rs746748
dbSNP Clinvar
25282967 750.52 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.04267 0.40 0.13 None None None None None None ABHD12|0.092039068|52.8%
View combined sample_51.variant15 20 rs6107027
dbSNP Clinvar
25288632 1211.38 G A PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.33606 0.33610 0.43465 None None None None None None ABHD12|0.092039068|52.8%

ACSS1

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_51.variant15 20 rs60849220
dbSNP Clinvar
25011639 4433.1 A G PASS 0/1 252 None None None 0.09405 0.09405 0.13778 None None None None None None ACSS1|0.048821607|63.01%
View combined sample_51.variant15 20 rs6050259
dbSNP Clinvar
25011423 1768.08 T C PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%
View combined sample_51.variant15 20 rs6050249
dbSNP Clinvar
24994289 2918.57 C T PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.16394 0.16390 0.22605 0.10 0.10 None None None None None None ACSS1|0.048821607|63.01%

ACSS2

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_51.variant15 20 rs4911163
dbSNP Clinvar
33470694 2899.29 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.51218 0.51220 0.43434 None None None None None None ACSS2|0.488270454|16.4%

ACTL10

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_51.variant15 20 . 32255372 3318.07 C T PASS 0/1 255 SYNONYMOUS_CODING LOW None None None None None None None NECAB3|0.054483175|61.33%,ACTL10|0.017987153|75.29%

ACTR5

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_51.variant15 20 rs2748663
dbSNP Clinvar
37383640 1139.11 T C PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.23922 0.23920 0.24673 None None None None None None ACTR5|0.119979077|47.44%
View combined sample_51.variant15 20 rs2254105
dbSNP Clinvar
37377139 941.71 C T PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.24501 0.24500 None None None None None None ACTR5|0.119979077|47.44%
View combined sample_51.variant15 20 rs2245231
dbSNP Clinvar
37396120 1947.93 A G PASS 1/1 226 NON_SYNONYMOUS_CODING MODERATE None 0.43331 0.43330 0.44157 0.40 0.00 None None None None None None ACTR5|0.119979077|47.44%

ADA

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_51.variant15 20 rs394105
dbSNP Clinvar
43264927 3088.17 C T PASS 1/1 131 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%
View combined sample_51.variant15 20 rs577317154
dbSNP Clinvar
43251536 2976.79 G A PASS 0/1 211 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00020 0.00020 None None None None None None PKIG|0.124738302|46.68%,ADA|0.574821556|12.82%

ADNP

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_51.variant15 20 rs199630325
dbSNP Clinvar
49509319 2250.68 T C PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.00023 None None None None None None ADNP|0.657974321|9.79%

ADRA1D

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_51.variant15 20 rs184418609
dbSNP Clinvar
4229514 710.57 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.25559 0.25560 1.00 0.00 None None None None None None ADRA1D|0.152836614|42.55%

ADRM1

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_51.variant15 20 rs2427275
dbSNP Clinvar
60881780 2384.32 T C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.96286 0.96290 0.03147 None None None None None None ADRM1|0.222122669|34.19%
View combined sample_51.variant15 20 rs2427273
dbSNP Clinvar
60881330 6626.06 G A PASS 1/1 254 SYNONYMOUS_CODING LOW None 0.81789 0.81790 0.16377 None None None None None None ADRM1|0.222122669|34.19%

ANKEF1

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_51.variant15 20 rs683145
dbSNP Clinvar
10032413 1199.64 T G PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.20068 0.20070 0.27733 None None None None None None ANKEF1|0.06517726|58.59%
View combined sample_51.variant15 20 rs6087119
dbSNP Clinvar
10036202 2856.79 G A PASS 0/1 246 NON_SYNONYMOUS_CODING MODERATE None 0.04912 0.04912 0.10434 0.25 0.00 None None None None None None ANKEF1|0.06517726|58.59%
View combined sample_51.variant15 20 rs524625
dbSNP Clinvar
10030452 726.07 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.19569 0.19570 0.26000 0.46 1.00 None None None None None None ANKEF1|0.06517726|58.59%
View combined sample_51.variant15 20 rs652633
dbSNP Clinvar
10030188 1569.65 T A PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.19768 0.19770 0.27257 0.30 0.01 None None None None None None ANKEF1|0.06517726|58.59%
View combined sample_51.variant15 20 rs575534
dbSNP Clinvar
10019093 1373.15 A G PASS 1/1 179 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.35514 None None None None None None ANKEF1|0.06517726|58.59%

ANKRD60

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_51.variant15 20 rs584855
dbSNP Clinvar
56793706 4636.43 G A PASS 1/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.67652 0.67650 0.21397 0.04 0.39 None None None None None None ANKRD60|0.001529196|92.64%
View combined sample_51.variant15 20 rs1192511
dbSNP Clinvar
56793764 3107.58 G A PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.67672 0.67670 0.21397 None None None None None None ANKRD60|0.001529196|92.64%
View combined sample_51.variant15 20 rs1192514
dbSNP Clinvar
56803353 1411.22 C T PASS 0/1 223 SYNONYMOUS_CODING LOW None 0.32728 0.32730 0.27661 None None None None None None ANKRD60|0.001529196|92.64%

ARFRP1

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_51.variant15 20 rs367993153,rs386394225
dbSNP Clinvar
62332638 796.68 A AC PASS 1/1 188 None None None 0.73642 0.73640 0.16151 None None None None None None ARFRP1|0.101604996|50.84%

ASXL1

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_51.variant15 20 rs4911231
dbSNP Clinvar
31024274 3299.4 T C PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32008 None None None None None None ASXL1|0.399812505|20.78%
View combined sample_51.variant15 20 rs6058694
dbSNP Clinvar
31022959 2176.21 T C PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 0.28 0.00 None None None None None None ASXL1|0.399812505|20.78%

ATP9A

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_51.variant15 20 rs2255342
dbSNP Clinvar
50287790 550.01 A G PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.70407 0.70410 0.26749 None None None None None None ATP9A|0.17091233|40.18%
View combined sample_51.variant15 20 rs2255341
dbSNP Clinvar
50287736 793.61 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.46555 None None None None None None ATP9A|0.17091233|40.18%

ATRN

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_51.variant15 20 rs34398666
dbSNP Clinvar
3624848 1167.7 C T PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.05571 0.05571 0.10841 None None None None None None ATRN|0.348885303|24.22%
View combined sample_51.variant15 20 rs151519
dbSNP Clinvar
3515951 2218.57 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.19209 0.19210 0.29148 None None None None None None ATRN|0.348885303|24.22%
View combined sample_51.variant15 20 rs3886999
dbSNP Clinvar
3577062 1150.91 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.01777 0.01777 0.04060 1.00 0.00 None None None None None None ATRN|0.348885303|24.22%
View combined sample_51.variant15 20 rs151518
dbSNP Clinvar
3515924 1555.2 G A PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.29087 None None None None None None ATRN|0.348885303|24.22%
View combined sample_51.variant15 20 rs17782078
dbSNP Clinvar
3541382 1933.06 T C PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.01757 0.01757 0.04067 0.14 0.16 None None None None None None ATRN|0.348885303|24.22%
View combined sample_51.variant15 20 rs235540
dbSNP Clinvar
3564672 1671.25 C T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.82448 0.82450 0.26895 None None None None None None ATRN|0.348885303|24.22%

AURKA

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_51.variant15 20 rs1047972
dbSNP Clinvar
54961463 1420.43 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.84984 0.84980 0.16223 1.00 0.00 None None None None None None AURKA|0.191109207|37.7%

B4GALT5

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_51.variant15 20 rs235035
dbSNP Clinvar
48252914 1018.3 C T PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.03175 0.03175 0.06328 0.34 0.01 None None None None None None B4GALT5|0.192081933|37.58%
View combined sample_51.variant15 20 rs2235855
dbSNP Clinvar
48259034 474.74 A G PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.44669 0.44670 0.47709 None None None None None None B4GALT5|0.192081933|37.58%
View combined sample_51.variant15 20 rs421801
dbSNP Clinvar
48257149 1918.04 C T PASS 1/1 170 SYNONYMOUS_CODING LOW None 0.81010 0.81010 0.18976 None None None None None None B4GALT5|0.192081933|37.58%

BANF2

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_51.variant15 20 rs4814640
dbSNP Clinvar
17705677 1706.66 A G PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.94329 0.94330 0.06459 0.20 0.00 None None None None None None BANF2|0.055467464|61.07%

BFSP1

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_51.variant15 20 rs6080718
dbSNP Clinvar
17474968 4510.94 T C PASS 1/1 202 SYNONYMOUS_CODING LOW None 0.00300 0.00300 0.25988 None None None None None None BFSP1|0.019258664|74.54%
View combined sample_51.variant15 20 rs6080717
dbSNP Clinvar
17474791 1723.73 G A PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.27649 None None None None None None BFSP1|0.019258664|74.54%

BIRC7

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_51.variant15 20 rs1077019
dbSNP Clinvar
61870727 2755.74 G C PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.24661 0.24660 0.19725 0.65 0.00 None None None None None None BIRC7|0.003576281|87.65%
View combined sample_51.variant15 20 rs6010878
dbSNP Clinvar
61869607 1266.28 C A PASS 0/1 96 None None None 0.66414 0.66410 1.00 0.00 None None None None None None BIRC7|0.003576281|87.65%

BMP2

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_51.variant15 20 rs235768
dbSNP Clinvar
6759115 2484.12 A T PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.76677 0.76680 0.27069 0.00 0.98 None None None None None None BMP2|0.997316737|0.64%
View combined sample_51.variant15 20 rs1049007
dbSNP Clinvar
6751034 7674.86 A G PASS 0/1 336 SYNONYMOUS_CODING LOW None 0.74601 0.74600 0.29174 None None None None None None BMP2|0.997316737|0.64%

BMP7

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_51.variant15 20 rs2148328
dbSNP Clinvar
55748206 1381.61 G A PASS 0/1 159 None None None 0.40755 0.40750 0.41764 0.39 0.00 None None None None None None BMP7|0.992789544|0.96%
View combined sample_51.variant15 20 rs6070031
dbSNP Clinvar
55800937 3037.4 C T PASS 0/1 126 None None None 0.27217 0.27220 None None None None None None BMP7|0.992789544|0.96%

BPI

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_51.variant15 20 rs4358188
dbSNP Clinvar
36946848 1364.73 G A PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.43510 0.43510 0.49531 1.00 0.00 None None None None None None BPI|0.001345673|93.63%
View combined sample_51.variant15 20 rs5743507
dbSNP Clinvar
36939052 564.36 G C PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05571 0.05571 0.08388 None None None None None None BPI|0.001345673|93.63%

BPIFA3

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_51.variant15 20 rs3818222
dbSNP Clinvar
31812923 1334.07 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.66434 0.66430 0.41673 1.00 0.00 None None None None None None BPIFA3|0.004260948|86.67%

BPIFB2

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_51.variant15 20 rs17124003
dbSNP Clinvar
31609581 1044.34 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.32029 0.32030 0.33777 None None None None None None BPIFB2|0.006724294|83.8%
View combined sample_51.variant15 20 rs149889663
dbSNP Clinvar
31596430 1761.9 T A PASS 0/1 235 NON_SYNONYMOUS_CODING MODERATE None 0.00379 0.00379 0.00461 0.02 0.02 None None None None None None BPIFB2|0.006724294|83.8%

BPIFB3

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_51.variant15 20 rs6057717
dbSNP Clinvar
31656632 599.42 C G PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.48203 0.48200 0.34069 0.17 0.22 None None None None None None BPIFB3|0.02436257|72.06%
View combined sample_51.variant15 20 rs4911290
dbSNP Clinvar
31652292 136.7 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.49002 0.49000 0.35276 0.02 0.07 None None None None None None BPIFB3|0.02436257|72.06%

BPIFB4

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_51.variant15 20 rs2070325
dbSNP Clinvar
31673846 331.23 A G PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.46546 0.46550 0.32946 0.02 0.35 None None None None None None BPIFB4|0.029100431|69.82%
View combined sample_51.variant15 20 rs2889732
dbSNP Clinvar
31676804 1099.44 A C PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.55152 0.55150 0.42134 0.04 0.24 None None None None None None BPIFB4|0.029100431|69.82%
View combined sample_51.variant15 20 rs2070326
dbSNP Clinvar
31678534 805.09 T C PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21975 None None None None None None BPIFB4|0.029100431|69.82%
View combined sample_51.variant15 20 rs11696307
dbSNP Clinvar
31688260 1697.35 C T PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.40797 0.17 0.00 None None None None None None BPIFB4|0.029100431|69.82%
View combined sample_51.variant15 20 rs11699009
dbSNP Clinvar
31688241 1853.93 T C PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.51578 0.51580 0.36445 1.00 0.00 None None None None None None BPIFB4|0.029100431|69.82%

BPIFB6

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_51.variant15 20 rs2070317
dbSNP Clinvar
31622083 1399.33 G A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.56909 0.56910 0.48831 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%
View combined sample_51.variant15 20 rs4911287
dbSNP Clinvar
31627291 344.04 A G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.60643 0.60640 0.48470 1.00 0.00 None None None None None None BPIFB6|0.017668453|75.5%

C20orf166

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_51.variant15 20 rs6062251
dbSNP Clinvar
61162267 4232.26 T C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.57668 0.57670 0.36851 1.00 0.00 None None None None None None MIR1-1HG|0.000293671|99.44%

C20orf194

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_51.variant15 20 rs2422864
dbSNP Clinvar
3285140 3006.26 T C PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.93371 0.93370 0.12173 1.00 0.00 None None None None None None C20orf194|0.217196802|34.71%
View combined sample_51.variant15 20 rs2254916
dbSNP Clinvar
3285126 3777.72 A T PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.23607 None None None None None None C20orf194|0.217196802|34.71%

C20orf196

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_51.variant15 20 rs41282138
dbSNP Clinvar
5843952 2129.78 G A PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.01757 0.01757 0.03383 0.06 0.09 None None None None None None C20orf196|0.008754295|81.9%
View combined sample_51.variant15 20 rs1699233
dbSNP Clinvar
5843812 1990.12 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.43311 0.43310 0.48716 None None None None None None C20orf196|0.008754295|81.9%

C20orf201

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_51.variant15 20 rs6010717
dbSNP Clinvar
62714783 3263.6 C G PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.37159 None None None None None None OPRL1|0.253276549|31.26%,LKAAEAR1|0.00333726|88.03%

C20orf26

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_51.variant15 20 rs2424317
dbSNP Clinvar
20257958 1172.31 C T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.13399 0.13400 0.20560 None None None None None None CFAP61|0.103943105|50.42%
View combined sample_51.variant15 20 rs6081901
dbSNP Clinvar
20144772 1288.67 G A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.45887 0.45890 0.44403 0.37 0.00 None None None None None None CFAP61|0.103943105|50.42%
View combined sample_51.variant15 20 rs200183
dbSNP Clinvar
20050397 3004.91 G A PASS 1/1 81 None None None 0.78415 0.78410 0.00 None None None None None None CFAP61|0.103943105|50.42%

C20orf96

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_51.variant15 20 rs7271033
dbSNP Clinvar
259969 5472.4 G C PASS 0/1 322 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%
View combined sample_51.variant15 20 rs3827147
dbSNP Clinvar
256727 3093.86 T A PASS 0/1 138 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%
View combined sample_51.variant15 20 rs6035541
dbSNP Clinvar
259818 1746.45 G A PASS 0/1 263 SYNONYMOUS_CODING LOW None 0.29752 0.29750 0.33185 None None None None None None C20orf96|0.00266282|89.34%
View combined sample_51.variant15 20 rs2277781
dbSNP Clinvar
257733 6828.77 A G PASS 0/1 236 SYNONYMOUS_CODING LOW None 0.64717 0.64720 0.32424 None None None None None None C20orf96|0.00266282|89.34%

CABLES2

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_51.variant15 20 rs6089219
dbSNP Clinvar
60966318 1689.22 G T PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.90256 0.90260 0.05521 1.00 0.00 None None None None None None CABLES2|0.058513615|60.25%
View combined sample_51.variant15 20 rs13042761
dbSNP Clinvar
60966374 1100.01 G C PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.08926 0.08926 0.10787 None None None None None None CABLES2|0.058513615|60.25%

CBFA2T2

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_51.variant15 20 rs149392217
dbSNP Clinvar
32162067 952.84 G C PASS 0/1 95 None None None 0.00379 0.00379 0.00992 0.54 0.00 None None None None None None CBFA2T2|0.275255923|29.51%
View combined sample_51.variant15 20 rs3803939
dbSNP Clinvar
32212690 3057.61 C T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.66913 0.66910 0.41796 None None None None None None CBFA2T2|0.275255923|29.51%

CD93

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_51.variant15 20 rs3746731
dbSNP Clinvar
23065209 3031.84 G A PASS 1/1 410 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.49908 0.17 0.23 None None None None None None CD93|0.003918213|87.15%
View combined sample_51.variant15 20 rs3746732
dbSNP Clinvar
23065342 10297.5 A G PASS 1/1 413 SYNONYMOUS_CODING LOW None 0.77975 0.77980 0.24642 None None None None None None CD93|0.003918213|87.15%

CDH4

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_51.variant15 20 rs2427240
dbSNP Clinvar
60485627 560.36 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.70487 0.70490 0.17000 None None None None None None CDH4|0.197684425|36.97%
View combined sample_51.variant15 20 rs6142884
dbSNP Clinvar
60503350 2540.78 A G PASS 0/1 428 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None CDH4|0.197684425|36.97%

CDK5RAP1

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_51.variant15 20 rs291700
dbSNP Clinvar
31981849 2772.25 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.59565 0.59560 0.36552 None None None None None None CDK5RAP1|0.141646377|44.19%

CEBPB

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_51.variant15 20 rs4253439
dbSNP Clinvar
48808011 4096.02 C T PASS 1/1 316 SYNONYMOUS_CODING LOW None 0.36981 0.36980 0.33705 None None None None None None CEBPB|0.637441971|10.54%

CHGB

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_51.variant15 20 rs236151
dbSNP Clinvar
5903517 1867.96 A G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.20152 0.69 0.00 None None None None None None CHGB|0.023575586|72.37%

CHRNA4

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_51.variant15 20 rs1044394
dbSNP Clinvar
61982085 5573.68 A G PASS 1/1 408 SYNONYMOUS_CODING LOW None 0.86362 0.86360 0.15670 None None None None None None CHRNA4|0.164276334|40.99%
View combined sample_51.variant15 20 rs1044393
dbSNP Clinvar
61982124 7744.37 A G PASS 1/1 507 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.23305 None None None None None None CHRNA4|0.164276334|40.99%
View combined sample_51.variant15 20 rs2229960
dbSNP Clinvar
61981536 5370.97 A G PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.87081 0.87080 0.14286 None None None None None None CHRNA4|0.164276334|40.99%
View combined sample_51.variant15 20 rs2229959
dbSNP Clinvar
61981554 5281.17 C A PASS 1/1 193 SYNONYMOUS_CODING LOW None 0.73383 0.73380 0.24861 None None None None None None CHRNA4|0.164276334|40.99%

COL20A1

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_51.variant15 20 rs6089881
dbSNP Clinvar
61951489 4049.45 G C PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.88379 0.88380 0.09093 None None None None None None COL20A1|0.010214941|80.7%
View combined sample_51.variant15 20 rs4809287
dbSNP Clinvar
61941747 3256.06 A G PASS 1/1 202 SYNONYMOUS_CODING LOW None 0.95347 0.95350 0.04211 None None None None None None COL20A1|0.010214941|80.7%
View combined sample_51.variant15 20 rs6089877
dbSNP Clinvar
61943089 377.38 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.02576 0.02576 0.02401 0.52 0.00 None None None None None None COL20A1|0.010214941|80.7%

COL9A3

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_51.variant15 20 rs2294995
dbSNP Clinvar
61468571 2773.46 T C PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.23560 None None None None None None COL9A3|0.05194578|62.08%

CRLS1

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_51.variant15 20 rs41282950
dbSNP Clinvar
6011934 1151.2 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.09097 0.04 0.14 None None None None None None CRLS1|0.208198855|35.79%
View combined sample_51.variant15 20 rs6085343
dbSNP Clinvar
5986950 244.41 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.07748 0.07748 0.08 0.00 None None None None None None CRLS1|0.208198855|35.79%

CRNKL1

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_51.variant15 20 rs2255255
dbSNP Clinvar
20032998 1041.26 T C PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.51897 0.51900 0.46371 0.16 0.00 None None None None None None CRNKL1|0.403355497|20.56%
View combined sample_51.variant15 20 rs2273057
dbSNP Clinvar
20033242 2832.57 A T PASS 0/1 333 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.46378 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View combined sample_51.variant15 20 rs3817995
dbSNP Clinvar
20033380 1621.64 A G PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.51897 0.51900 0.45473 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%
View combined sample_51.variant15 20 rs7508949
dbSNP Clinvar
20033367 1770.05 C G PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.24241 0.24240 0.32629 0.00 None None None None None None CRNKL1|0.403355497|20.56%,CFAP61|0.103943105|50.42%