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Genes:
AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BPIFC, C1QTNF6, C22orf23, C22orf24, C22orf26, C22orf31, C22orf34, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRYBA4, CSF2RB, CTA-299D3.8, CYB5R3, CYP2D6, CYP2D7P, CYTH4, DEPDC5, DERL3, DGCR2, DNAL4, EFCAB6, EIF3D, EIF4ENIF1, ELFN2, EP300, FAM118A, FAM19A5, FAM211B, FAM230A, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGTLC2, GNAZ, GRAMD4, GSTT2, GTSE1, HDAC10, HIC2, HMGXB4, HMOX1, HPS4, IGLC3, IGLJ3, IGLJ5, IGLJ7, IGLV1-47, IGLV10-54, IGLV11-55, IGLV2-23, IGLV3-25, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCHR1, MCM5, MED15, MEI1, MICAL3, MIOX, MKL1, MMP11, MN1, MOV10L1, MPPED1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NPTXR, ODF3B, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PEX26, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POLDIP3, POM121L7, POTEH, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RASD2, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RP1-32I10.10, RPL3, RRP7A, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SELO, SERPIND1, SEZ6L, SFI1, SHANK3, SLC16A8, SLC35E4, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, SYNGR1, TBX1, TCF20, TCN2, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMPRSS6, TNRC6B, TOB2, TOP3B, TPST2, TRIOBP, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, UQCR10, USP41, WBP2NL, XBP1, XKR3, XRCC6, YDJC, ZBED4, ZNF280A, ZNF280B, ZNF70, ZNRF3,

Genes at Omim

ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, ATP6V1E1, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, HMOX1, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MCM5, MKL1, MN1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2, TYMP, UPB1, XBP1,
ACO2 Infantile cerebellar-retinal degeneration, 614559 (3)
?Optic atrophy 9, 616289 (3)
ACR ?Male infertility due to acrosin deficiency (2)
ALG12 Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1 {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3)
{End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2 {Schizophrenia}, 181500 (1)
APOL4 {Schizophrenia}, 181500 (1)
ARSA Metachromatic leukodystrophy, 250100 (3)
ATP6V1E1 Cutis laxa, autosomal recessive, type IIC, 617402 (3)
ATXN10 Spinocerebellar ataxia 10, 603516 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)
?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)
Spinal muscular atrophy, Jokela type, 615048 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3 Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2 DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DNAL4 ?Mirror movements 3, 616059 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1 Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7 Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1 ?Glutathioninuria, 231950 (3)
GGT2 [Gamma-glutamyltransferase, familial high serum] (2)
HMOX1 Heme oxygenase-1 deficiency, 614034 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA Immunodeficiency 51, 613953 (3)
KCTD17 Dystonia 26, myoclonic, 616398 (3)
KREMEN1 Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1 {Schwannomatosis-2, susceptibility to}, 615670 (3)
Noonan syndrome 10, 616564 (3)
Noonan syndrome 2, 605275 (3)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MN1 Meningioma, 607174 (3)
MYH9 Deafness, autosomal dominant 17, 603622 (3)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA Kanzaki disease, 609242 (3)
Schindler disease, type I, 609241 (3)
Schindler disease, type III, 609241 (3)
NCF4 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6 Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)
Peroxisome biogenesis disorder 7B, 614873 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PLA2G6 Infantile neuroaxonal dystrophy 1, 256600 (3)
Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH Hyperprolinemia, type I, 239500 (3)
{Schizophrenia, susceptibility to, 4}, 600850 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SCO2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Myopia 6, 608908 (3)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (3)
SMARCB1 Coffin-Siris syndrome 3, 614608 (3)
{Rhabdoid tumor predisposition syndrome 1}, 609322 (3)
{Schwannomatosis-1, susceptibility to}, 162091 (3)
Rhabdoid tumors, somatic, 609322 (3)
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10 PCWH syndrome, 609136 (3)
Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)
Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L Hypertelorism, Teebi type, 145420 (3)
?Facial clefting, oblique, 1, 600251 (3)
Opitz GBBB syndrome, type II, 145410 (3)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TIMP3 Sorsby fundus dystrophy, 136900 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2 ?Glucocorticoid deficiency 5, 617825 (3)
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1 Beta-ureidopropionase deficiency, 613161 (3)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

ACO2, ALG12, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, HMOX1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MN1, MYH9, MYO18B, NAGA, NCF4, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TYMP, UPB1, UPK3A,
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
ATXN10 Spinocerebellar ataxia 10
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3 Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6 Drug metabolism, CYP2CD6-related
DEPDC5 Epilepsy, familial focal, with variable foci
DGCR2 Schizophrenia
DNAL4 Mirror movements 3
EP300 Rubinstein-Taybi syndrome 2
FBLN1 Synpolydactyly 2
FBXO7 Parkinson disease 15, autosomal recessive
HMOX1 Heme oxygenase 1 deficiency
HPS4 Hermansky-Pudlak syndrome 4
IL17RA Candiasis, familial, 5
KCTD17 Dystonia 26, myoclonic
LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1 Schwannomatosis 2
Noonan syndrome 10
MN1 Meningioma, familial
MYH9 Sebastian syndrome
May-Hegglin anomaly
Fechtner syndrome
Epstein syndrome
Macrothrombocytopenia and progressive sensorineural deafness
MYO18B Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA Kanzaki disease
Alpha-n-acetylgalactosaminidase deficiency
Schindler disease type I
Schindler disease type III
NCF4 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
PEX26 Peroxisome biogenesis factor disorder, 26
Adrenoleukodystrophy, neonatal
Refsum disease, infantile
Zellweger syndrome
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PLA2G6 Parkinson disease 14, autosomal recessive
Neurodegeneration with brain iron accumulation 2A
Neurodegeneration with brain iron accumulation 2B
PRODH Hyperprolinemia, type I
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCARF2 Van den Ende-Gupta syndrome
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SMARCB1 Schwannomatosis
Rhabdoid tumor predisposition syndrome
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10 Waardenburg syndrome, type 4C
Waardenburg syndrome, type 2E
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Hirschsprung disease, susceptibility to, 10
SPECC1L Facial clefting, oblique, 1
Opitz GBBB syndrome, type II
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1 Beta-ureidopropionase deficiency
UPK3A Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 3968
Number of Genes: 268

Export to: CSV

AC002472.13

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_51.variant15 22 rs28504593
dbSNP Clinvar
21403375 224.22 C A PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.18311 0.18310 0.00 1.00 None None None None None None None
View combined sample_51.variant15 22 rs28450680
dbSNP Clinvar
21403376 224.22 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.18311 0.18310 None None None None None None None

AC006547.14

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_51.variant15 22 rs73391926
dbSNP Clinvar
20138105 1529.29 T C PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.46985 0.46980 None None None None None None None
View combined sample_51.variant15 22 rs139050179
dbSNP Clinvar
20137723 2032.0 C T PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.22963 0.22960 None None None None None None None

AC006946.15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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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_51.variant15 22 rs5992629
dbSNP Clinvar
17602839 1708.17 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.87820 0.87820 None None None None None None None
View combined sample_51.variant15 22 rs5748871
dbSNP Clinvar
17603477 1942.46 A G PASS 1/1 61 None None None 0.44828 0.44830 0.00 None None None None None None None

AC008132.13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_51.variant15 22 rs62231277
dbSNP Clinvar
18835365 1985.47 T G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.77496 0.77500 None None None None None None None
View combined sample_51.variant15 22 rs62231276
dbSNP Clinvar
18835221 74.79 A G PASS 1/1 253 SYNONYMOUS_CODING LOW None 0.89397 0.89400 None None None None None None None
View combined sample_51.variant15 22 rs16987804
dbSNP Clinvar
18835403 343.05 A G PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View combined sample_51.variant15 22 . 18835163 859.28 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.04 None None None None None None None

ACO2

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_51.variant15 22 rs1799932
dbSNP Clinvar
41911525 1390.58 C T PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.27037 0.27040 0.38375 None None None None None None ACO2|0.657906877|9.8%

ACR

Omim - GeneCards - NCBI
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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_51.variant15 22 rs5771002
dbSNP Clinvar
51183255 595.6 A G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.72584 0.72580 0.57 0.02 None None None None None None ACR|0.009551139|81.19%

ADM2

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_51.variant15 22 rs72438078,rs3840963
dbSNP Clinvar
50921148 3594.09 AA... A PASS 0/1 241 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.11761 0.11760 0.07880 None None None None None None ADM2|0.006259599|84.34%

ADORA2A

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_51.variant15 22 rs5751876
dbSNP Clinvar
24837301 1168.16 T C PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.44229 0.44230 0.48193 None None None None None None ADORA2A|0.246666916|31.87%

AIFM3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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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_51.variant15 22 rs178264
dbSNP Clinvar
21327589 2575.63 C T PASS 0/1 201 None None None 0.21805 0.21810 0.12993 0.44 0.80 None None None None None None AIFM3|0.183569407|38.59%
View combined sample_51.variant15 22 rs7285694
dbSNP Clinvar
21330787 8156.36 C T PASS 0/1 411 SYNONYMOUS_CODING LOW None 0.19129 0.19130 0.27172 None None None None None None AIFM3|0.183569407|38.59%
View combined sample_51.variant15 22 rs178269
dbSNP Clinvar
21331043 4749.67 A T PASS 1/1 159 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AIFM3|0.183569407|38.59%

ALG12

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_51.variant15 22 rs62233155
dbSNP Clinvar
50298118 2627.41 C T PASS 0/1 271 SYNONYMOUS_CODING LOW None 0.01038 0.01038 0.02676 None None None None None None ALG12|0.005312033|85.41%

AP1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_51.variant15 22 rs3747147
dbSNP Clinvar
29815161 2088.41 G C PASS 0/1 225 None None None None None None None None None AP1B1|0.336808042|25.03%
View combined sample_51.variant15 22 . 29747277 2262.14 T C PASS 0/1 141 None None None None None None None None None AP1B1|0.336808042|25.03%
View combined sample_51.variant15 22 rs2857465
dbSNP Clinvar
29727886 5890.89 T C PASS 1/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00008 1.00 0.00 None None None None None None AP1B1|0.336808042|25.03%
View combined sample_51.variant15 22 rs174765
dbSNP Clinvar
29727866 1879.62 C T PASS 0/1 231 SYNONYMOUS_CODING LOW None 0.53195 0.53190 0.48370 None None None None None None AP1B1|0.336808042|25.03%
View combined sample_51.variant15 22 rs2072051
dbSNP Clinvar
29755888 3800.31 T C PASS 1/1 232 SYNONYMOUS_CODING LOW None 0.66893 0.66890 0.35760 None None None None None None AP1B1|0.336808042|25.03%

APOBEC3B

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 22 rs1065184
dbSNP Clinvar
39387558 1841.3 C T PASS 0/1 184 SYNONYMOUS_CODING LOW None 0.48365 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_51.variant15 22 rs5757413
dbSNP Clinvar
39388207 607.38 G A PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.23203 0.23200 0.50 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_51.variant15 22 rs2076109
dbSNP Clinvar
39381826 1295.32 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.64117 0.64120 0.39427 0.77 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_51.variant15 22 rs2076111
dbSNP Clinvar
39381999 1324.43 T C PASS 1/1 49 SYNONYMOUS_CODING LOW None None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_51.variant15 22 rs5995649
dbSNP Clinvar
39382079 2094.74 C A PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.04888 1.00 0.00 None None None None None None APOBEC3B|0.000325736|99.32%
View combined sample_51.variant15 22 rs5757414
dbSNP Clinvar
39388216 459.43 T G PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.55 0.00 None None None None None None APOBEC3B|0.000325736|99.32%

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_51.variant15 22 rs5750728
dbSNP Clinvar
39440149 1279.17 C T PASS 0/1 123 None None None 0.50000 0.50000 0.43758 0.44 0.01 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_51.variant15 22 rs4821862
dbSNP Clinvar
39441203 775.49 C T PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.59345 0.59350 0.46363 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_51.variant15 22 rs2076101
dbSNP Clinvar
39445554 2199.02 G A PASS 0/1 173 NON_SYNONYMOUS_CODING MODERATE None 0.49541 0.49540 0.43426 0.16 0.90 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%
View combined sample_51.variant15 22 rs2020390
dbSNP Clinvar
39441096 451.81 G T PASS 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.53375 0.53370 0.15 1.00 None None None None None None APOBEC3F|0.000410636|98.87%,APOBEC3G|0.000537592|98.25%

APOBEC3H

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 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 2485.97 TAAC T PASS 0/1 150 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139299
dbSNP Clinvar
39497454 1228.92 G C PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42365 0.04 0.40 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139300
dbSNP Clinvar
39497509 773.62 A G PASS 1/1 35 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139302
dbSNP Clinvar
39498038 1254.51 G C PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.51558 0.51560 0.42911 0.23 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139298
dbSNP Clinvar
39497452 1228.92 A G PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.52975 0.52980 0.42496 1.00 0.01 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139297
dbSNP Clinvar
39497404 1532.23 G C PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.52476 0.52480 0.42050 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139293
dbSNP Clinvar
39496336 2319.61 G T PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.20168 0.20170 0.20898 0.02 0.49 None None None None None None APOBEC3H|0.000715686|97.18%
View combined sample_51.variant15 22 rs139294
dbSNP Clinvar
39496412 916.86 G C PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.51478 0.51480 0.43995 None None None None None None APOBEC3H|0.000715686|97.18%

APOL1

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 22 rs136177
dbSNP Clinvar
36661842 1850.89 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.85324 0.85320 0.16023 None None None None None None APOL1|0.000329557|99.31%
View combined sample_51.variant15 22 rs9610468
dbSNP Clinvar
36650956 805.9 G A PASS 0/1 62 None None None 0.09105 0.09105 0.14885 None None None None None None APOL1|0.000329557|99.31%
View combined sample_51.variant15 22 rs2239785
dbSNP Clinvar
36661330 3830.68 G A PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.67812 0.67810 0.34715 0.16 0.89 None None None None None None APOL1|0.000329557|99.31%
View combined sample_51.variant15 22 rs136174
dbSNP Clinvar
36661536 2976.43 C A PASS 1/1 204 SYNONYMOUS_CODING LOW None 0.86422 0.86420 0.15324 None None None None None None APOL1|0.000329557|99.31%
View combined sample_51.variant15 22 rs136175
dbSNP Clinvar
36661566 3803.85 G A PASS 1/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.86422 0.86420 0.15308 0.04 0.00 None None None None None None APOL1|0.000329557|99.31%
View combined sample_51.variant15 22 rs136176
dbSNP Clinvar
36661646 4841.1 G A PASS 1/1 202 NON_SYNONYMOUS_CODING MODERATE None 0.86262 0.86260 0.15101 1.00 0.00 None None None None None None APOL1|0.000329557|99.31%

APOL2

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 22 rs132760
dbSNP Clinvar
36623731 3966.55 T C PASS 1/1 228 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.66 0.00 None None None None None None APOL2|0.000262519|99.56%
View combined sample_51.variant15 22 rs2010499
dbSNP Clinvar
36629466 919.85 T A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.17053 0.17050 0.03 0.16 None None None None None None APOL2|0.000262519|99.56%

APOL3

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 22 rs132618
dbSNP Clinvar
36537500 2292.33 A T PASS 0/1 262 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.36506 None None None None None None APOL3|0.000202491|99.75%
View combined sample_51.variant15 22 rs132642
dbSNP Clinvar
36545137 1072.51 A T PASS 0/1 115 None None None 0.94169 0.94170 0.11710 0.00 None None None None None None APOL3|0.000202491|99.75%
View combined sample_51.variant15 22 rs132653
dbSNP Clinvar
36556823 1656.19 G T PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.78474 0.78470 0.28410 0.31 None None None None None None APOL3|0.000202491|99.75%

APOL4

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 22 rs2007468
dbSNP Clinvar
36591380 1313.08 A G PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.70068 0.70070 0.38713 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs6000181
dbSNP Clinvar
36598081 1103.55 A T PASS 0/1 130 START_LOST HIGH None 0.07668 0.07668 0.08435 0.00 0.40 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs132736
dbSNP Clinvar
36598058 1846.19 T C PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.62121 0.62120 0.47593 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs80587
dbSNP Clinvar
36598049 1919.2 C G PASS 1/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.62101 0.62100 0.47578 1.00 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs6000172
dbSNP Clinvar
36587202 1619.38 G A PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.64697 0.64700 0.44227 0.00 0.02 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs6000173
dbSNP Clinvar
36587223 1662.98 G T PASS 1/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.64717 0.64720 0.44378 0.00 0.66 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs6000174
dbSNP Clinvar
36587279 1229.3 A G PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.64697 0.64700 0.44084 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs2227167
dbSNP Clinvar
36587486 2841.25 A G PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.64736 0.64740 0.44397 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs2227168
dbSNP Clinvar
36587511 3084.54 C T PASS 1/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.44114 0.58 0.00 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs5845253,rs3075364
dbSNP Clinvar
36587845 4039.83 A ACT PASS 1/1 166 None None None 0.67572 0.67570 0.40732 None None None None None None APOL4|0.000586223|97.99%
View combined sample_51.variant15 22 rs2227169
dbSNP Clinvar
36587952 798.91 C T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.64257 0.64260 0.44647 None None None None None None APOL4|0.000586223|97.99%

APOL5

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 22 rs17723764
dbSNP Clinvar
36122517 2366.84 T C PASS 0/1 241 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.27341 None None None None None None APOL5|0.000570206|98.07%
View combined sample_51.variant15 22 rs2076672
dbSNP Clinvar
36123083 630.46 C T PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.14856 0.14860 0.21429 0.09 0.89 None None None None None None APOL5|0.000570206|98.07%

ARFGAP3

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 22 rs11913246
dbSNP Clinvar
43193603 1240.67 G A PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.02037 0.02037 0.03406 None None None None None None ARFGAP3|0.023747491|72.32%
View combined sample_51.variant15 22 rs9607957
dbSNP Clinvar
43218397 2406.42 T C PASS 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.01737 0.01737 0.03137 1.00 0.00 None None None None None None ARFGAP3|0.023747491|72.32%
View combined sample_51.variant15 22 rs1128013
dbSNP Clinvar
43195147 2030.42 A G PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.49377 None None None None None None ARFGAP3|0.023747491|72.32%
View combined sample_51.variant15 22 rs1018448
dbSNP Clinvar
43206950 1332.02 A C PASS 0/1 121 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGAP8

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 22 rs8881
dbSNP Clinvar
45258457 1173.16 A G PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.04832 0.04832 0.10165 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View combined sample_51.variant15 22 rs2269543
dbSNP Clinvar
45244930 1106.26 C T PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.36721 0.36720 0.36007 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%
View combined sample_51.variant15 22 rs3209476
dbSNP Clinvar
45221423 1249.36 A T PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.14617 0.14620 0.19412 None None None None None None PRR5-ARHGAP8|0.014398514|77.56%,ARHGAP8|0.011339423|79.74%

ARSA

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 22 rs743616
dbSNP Clinvar
51064039 9775.43 G C PASS 0/1 284 NON_SYNONYMOUS_CODING MODERATE None 0.40555 0.40560 0.48408 0.42 0.00 None None None None None None ARSA|0.046995067|63.58%

ARVCF

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 22 rs2073747
dbSNP Clinvar
19969075 4980.91 A G PASS 0/1 274 SYNONYMOUS_CODING LOW None 0.72145 0.72140 0.19203 None None None None None None ARVCF|0.083030294|54.56%
View combined sample_51.variant15 22 rs2073748
dbSNP Clinvar
19968971 1725.78 G A PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.36002 0.36000 0.34425 0.07 0.00 None None None None None None ARVCF|0.083030294|54.56%
View combined sample_51.variant15 22 rs165815
dbSNP Clinvar
19959473 7357.32 C T PASS 1/1 341 NON_SYNONYMOUS_CODING MODERATE None 0.61681 0.61680 0.26496 1.00 0.00 None None None None None None ARVCF|0.083030294|54.56%
View combined sample_51.variant15 22 rs2240717
dbSNP Clinvar
19969106 2159.87 A G PASS 0/1 302 NON_SYNONYMOUS_CODING MODERATE None 0.41953 0.41950 0.40522 0.50 0.00 None None None None None None ARVCF|0.083030294|54.56%

ASCC2

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 22 rs61736786
dbSNP Clinvar
30189642 4068.35 C T PASS 1/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.03115 0.03115 0.01961 0.06 0.01 None None None None None None ASCC2|0.130819121|45.77%
View combined sample_51.variant15 22 rs5763521
dbSNP Clinvar
30217992 129.42 C T PASS 1/1 16 None None None 0.53115 0.53120 None None None None None None ASCC2|0.130819121|45.77%
View combined sample_51.variant15 22 rs7289250
dbSNP Clinvar
30234218 2503.68 A T PASS 1/1 128 None None None 0.14697 0.14700 0.00 None None None None None None ASCC2|0.130819121|45.77%
View combined sample_51.variant15 22 rs10559800,rs146848976
dbSNP Clinvar
30234192 2254.17 TGCC T,... PASS 5/4 67 None None None None None None None None None ASCC2|0.130819121|45.77%

ATP6V1E1

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 22 rs5746446
dbSNP Clinvar
18101834 557.89 C T PASS 0/1 31 None None None 0.30092 0.30090 0.02 0.00 None None None None None None ATP6V1E1|0.177631936|39.36%

ATXN10

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 22 rs781162397
dbSNP Clinvar
46189568 1763.65 A G PASS 0/1 179 None None None None None None None None None ATXN10|0.013184503|78.38%

BAIAP2L2

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 22 rs142001534
dbSNP Clinvar
38483171 1923.38 G A PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.02157 0.02157 0.02440 0.18 0.01 None None None None None None BAIAP2L2|0.045525826|64.05%
View combined sample_51.variant15 22 rs66500630,rs371997714
dbSNP Clinvar
38482352 950.82 GT... G PASS 0/1 189 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.14137 0.14140 0.10928 None None None None None None BAIAP2L2|0.045525826|64.05%
View combined sample_51.variant15 22 rs4820313
dbSNP Clinvar
38506509 5311.0 A G PASS 1/1 195 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None BAIAP2L2|0.045525826|64.05%
View combined sample_51.variant15 22 rs142739979
dbSNP Clinvar
38483155 2620.46 T TT... PASS 0/1 126 CODON_INSERTION MODERATE None 0.30052 0.30050 0.33270 None None None None None None BAIAP2L2|0.045525826|64.05%
View combined sample_51.variant15 22 rs17856487
dbSNP Clinvar
38485540 269.39 A G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.39078 0.39080 0.50 0.00 None None None None None None BAIAP2L2|0.045525826|64.05%

BCL2L13

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 22 rs4488761
dbSNP Clinvar
18209613 4658.83 A G PASS 0/1 193 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.44756 None None None None None None BCL2L13|0.039355581|65.99%
View combined sample_51.variant15 22 rs2587070
dbSNP Clinvar
18165995 763.64 T G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.15246 0.07 0.00 None None None None None None BCL2L13|0.039355581|65.99%
View combined sample_51.variant15 22 rs2535688
dbSNP Clinvar
18209718 2472.16 C T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.05331 0.05331 0.12379 None None None None None None BCL2L13|0.039355581|65.99%

BCR

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 22 rs35727393
dbSNP Clinvar
23627256 2152.54 G A PASS 0/1 182 SYNONYMOUS_CODING LOW None 0.01777 0.01777 0.02983 None None None None None None BCR|0.805888971|5.65%
View combined sample_51.variant15 22 rs5751602
dbSNP Clinvar
23523630 2217.54 C A PASS 0/1 223 SYNONYMOUS_CODING LOW None 0.29153 0.29150 0.25578 None None None None None None BCR|0.805888971|5.65%
View combined sample_51.variant15 22 rs140504
dbSNP Clinvar
23627369 1601.8 A G PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.79373 0.79370 0.12264 1.00 0.00 None None None None None None BCR|0.805888971|5.65%
View combined sample_51.variant15 22 rs34646520
dbSNP Clinvar
23615946 1506.44 G A PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.01597 0.01597 0.02622 None None None None None None BCR|0.805888971|5.65%
View combined sample_51.variant15 22 rs372013175
dbSNP Clinvar
23653975 136.4 T TCCGG PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None BCR|0.805888971|5.65%

BID

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 22 rs11538
dbSNP Clinvar
18220831 1659.06 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.06190 0.06190 0.13079 None None None None None None BID|0.003014835|88.62%

BPIFC

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 22 rs5998478
dbSNP Clinvar
32811952 1037.6 A G PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.62081 0.62080 0.36945 1.00 0.00 None None None None None None BPIFC|0.039473347|65.93%

C1QTNF6

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 22 rs11089827
dbSNP Clinvar
37580442 630.63 A T PASS 0/1 89 None None None 0.36442 0.36440 0.00 None None None None None None C1QTNF6|0.040924441|65.44%
View combined sample_51.variant15 22 rs229526
dbSNP Clinvar
37581422 212.77 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.18910 0.18910 0.23743 0.07 0.06 None None None None None None C1QTNF6|0.040924441|65.44%