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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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Genes at Omim

AFG3L2, ATP5A1, ATP8B1, BCL2, CTDP1, DCC, DSC2, DSC3, DSG1, DSG4, ELP2, EPG5, FECH, GNAL, GREB1L, KDSR, LAMA1, LAMA3, LMAN1, LOXHD1, MAPRE2, MC4R, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RAX, RBBP8, RTTN, SERPINB8, SETBP1, SLC14A1, SMAD7, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ATP5A1 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
?Combined oxidative phosphorylation deficiency 22, 616045 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC2 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)
Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG4 Hypotrichosis 6, 607903 (3)
ELP2 Mental retardation, autosomal recessive 58, 617270 (3)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
GNAL Dystonia 25, 615073 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
KDSR Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MAPRE2 Symmetric circumferential skin creases, congenital, 2, 616734 (3)
MC4R Obesity, autosomal dominant, 601665 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RAX Microphthalmia, isolated 3, 611038 (3)
RBBP8 Jawad syndrome, 251255 (3)
Pancreatic carcinoma, somatic (3)
Seckel syndrome 2, 606744 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
SMAD7 {Colorectal cancer, susceptibility to, 3}, 612229 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, ATP5A1, ATP8B1, CTDP1, DCC, DSC2, DSC3, DSG1, DSG4, EPG5, FECH, GNAL, LAMA1, LAMA3, LMAN1, LOXHD1, MAPRE2, MC4R, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RBBP8, RTTN, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC2 Arrhythmogenic right ventricular dysplasia, familial, 11
Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG4 Hypotrichosis 6
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
GNAL Primary torsion dystonia
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
MAPRE2 Congenital symmetric circumferential skin creases 2
MC4R Obesity, autosomal dominant
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX Microphthalmia, isolated 3
RBBP8 Seckel syndrome 2
Jawad syndrome
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC14A1 Blood group, Kidd
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
TAF4B Spermatogenic failure 13
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TGIF1 Holoprosencephaly 4
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7
TSHZ1 Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 2980
Number of Genes: 161

Export to: CSV

AC012123.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_38.variant2 18 rs200605696
dbSNP Clinvar
30352057 4598.56 GC... G PASS 0/1 155 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%

ADCYAP1

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_38.variant2 18 rs8192597
dbSNP Clinvar
907675 1069.05 G A PASS 1/1 145 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.34802 None None None None None None ADCYAP1|0.147854671|43.32%
View combined sample_38.variant2 18 rs2231187
dbSNP Clinvar
909561 1925.69 A G PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.25727 None None None None None None ADCYAP1|0.147854671|43.32%

AFG3L2

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_38.variant2 18 rs11080572
dbSNP Clinvar
12351342 2611.18 C T PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%
View combined sample_38.variant2 18 rs11553521
dbSNP Clinvar
12348285 2969.61 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%

ALPK2

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_38.variant2 18 rs10469212
dbSNP Clinvar
56202418 3922.66 T C PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs6566987
dbSNP Clinvar
56279025 559.57 T G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs9944810
dbSNP Clinvar
56247600 993.65 C A PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44919 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs9956630
dbSNP Clinvar
56247567 882.32 A G PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45052 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs7240666
dbSNP Clinvar
56149099 5580.56 T C PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs9958735
dbSNP Clinvar
56247180 2422.69 T C PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.51018 0.51020 0.47932 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs12606191
dbSNP Clinvar
56246442 4072.84 T C PASS 0/1 268 SYNONYMOUS_CODING LOW None 0.37340 0.37340 0.29586 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3826593
dbSNP Clinvar
56204747 2600.06 G A PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs12963422
dbSNP Clinvar
56204644 2883.98 T G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.33746 0.33750 0.28741 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3809977
dbSNP Clinvar
56203898 4596.08 T G PASS 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.67173 0.67170 0.31747 0.05 0.40 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3809978
dbSNP Clinvar
56203891 4697.05 G T PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3809979
dbSNP Clinvar
56203447 4517.5 A G PASS 1/1 161 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3809980
dbSNP Clinvar
56203411 4051.74 G C PASS 1/1 142 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3809976
dbSNP Clinvar
56204250 6213.29 A C PASS 1/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.67213 0.67210 0.31678 0.53 0.08 None None None None None None ALPK2|0.002935349|88.74%
View combined sample_38.variant2 18 rs3826594
dbSNP Clinvar
56202982 4879.54 A T PASS 1/1 154 SYNONYMOUS_CODING LOW None 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%

ANKRD12

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_38.variant2 18 rs4798791
dbSNP Clinvar
9255982 320.76 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.61342 0.61340 0.45472 0.07 0.22 None None None None None None ANKRD12|0.456435861|17.86%

ANKRD30B

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_38.variant2 18 rs9676225
dbSNP Clinvar
14851756 74.84 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.52855 0.52860 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs12457503
dbSNP Clinvar
14752957 376.75 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.51997 0.52000 0.48489 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs12386087
dbSNP Clinvar
14852335 546.5 C A PASS 1/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs4090319
dbSNP Clinvar
14848820 1190.28 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.40076 0.40080 1.00 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs3126404
dbSNP Clinvar
14850375 342.98 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.47244 0.47240 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs28555630
dbSNP Clinvar
14848821 188.78 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.46965 0.46960 None None None None None None ANKRD30B|0.000995671|95.47%
View combined sample_38.variant2 18 rs9675365
dbSNP Clinvar
14779969 688.18 C G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.46566 0.46570 0.29 0.04 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD62

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_38.variant2 18 rs7243248
dbSNP Clinvar
12125657 1175.18 G A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.54653 0.54650 1.00 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_38.variant2 18 rs4519391
dbSNP Clinvar
12115509 960.93 G A PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.52736 0.52740 0.01 0.86 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_38.variant2 18 rs6505715
dbSNP Clinvar
12099654 2858.25 T C PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.52436 0.52440 0.42 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_38.variant2 18 rs11664969
dbSNP Clinvar
12094031 1082.91 G T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.29393 0.29390 None None None None None None ANKRD62|0.00149963|92.78%
View combined sample_38.variant2 18 rs1986751
dbSNP Clinvar
12096249 4089.68 G T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.52456 0.52460 0.08 0.00 None None None None None None ANKRD62|0.00149963|92.78%

ARHGAP28

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_38.variant2 18 rs1056408
dbSNP Clinvar
6912143 406.05 A C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None ARHGAP28|0.058067092|60.37%

ATP5A1

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_38.variant2 18 rs56181324
dbSNP Clinvar
43678024 872.37 G A PASS 1/1 21 MOTIF[MA0095.1:Yy1] LOW None 0.23882 0.23880 None None None None None None ATP5A1|0.559577689|13.38%
View combined sample_38.variant2 18 rs3753069
dbSNP Clinvar
43678035 583.71 T C PASS 1/1 23 None None None 0.55052 0.55050 0.00 None None None None None None ATP5A1|0.559577689|13.38%

ATP8B1

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_38.variant2 18 rs319438
dbSNP Clinvar
55364852 1298.94 A G PASS 1/1 60 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View combined sample_38.variant2 18 rs222581
dbSNP Clinvar
55317676 5205.54 C T PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None ATP8B1|0.161108429|41.4%
View combined sample_38.variant2 18 rs319443
dbSNP Clinvar
55362532 2435.05 T G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%

ATP9B

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_38.variant2 18 rs4078115
dbSNP Clinvar
76829525 580.7 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.31430 0.31430 0.17122 0.23 0.00 None None None None None None ATP9B|0.095143963|52.07%

BCL2

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_38.variant2 18 rs1801018
dbSNP Clinvar
60985879 6347.3 T C PASS 0/1 275 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

C18orf25

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_38.variant2 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 1533.77 T TCTG PASS 1/1 81 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C18orf56

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_38.variant2 18 rs2853533
dbSNP Clinvar
658064 4176.51 G C PASS 0/1 374 NON_SYNONYMOUS_CODING MODERATE None 0.33906 0.33910 0.20262 0.68 None None None None None None TYMSOS|0.00080118|96.64%,TYMS|0.850689466|4.62%

C18orf63

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_38.variant2 18 rs12606060
dbSNP Clinvar
72021717 2243.06 T C PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 1.00 0.00 None None None None None None C18orf63|0.018173124|75.19%

CABLES1

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_38.variant2 18 rs35642798
dbSNP Clinvar
20815990 798.34 C T PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00248 None None None None None None CABLES1|0.229324595|33.42%,TMEM241|0.112119825|48.85%

CABYR

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_38.variant2 18 rs1049683
dbSNP Clinvar
21736933 2768.7 T G PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.15538 1.00 0.00 None None None None None None CABYR|0.10325602|50.56%
View combined sample_38.variant2 18 rs1049684
dbSNP Clinvar
21739725 1421.78 T C PASS 0/1 117 None None None 0.47125 0.47120 0.41788 None None None None None None CABYR|0.10325602|50.56%

CBLN2

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_38.variant2 18 rs7237888
dbSNP Clinvar
70209321 1542.25 C A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.24141 None None None None None None CBLN2|0.157579656|41.93%

CCDC102B

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_38.variant2 18 rs572020
dbSNP Clinvar
66504459 1570.16 A T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07229 0.55 0.01 None None None None None None CCDC102B|0.006657119|83.88%
View combined sample_38.variant2 18 rs2187094
dbSNP Clinvar
66513615 787.33 A G PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.29602 0.07 0.40 None None None None None None CCDC102B|0.006657119|83.88%
View combined sample_38.variant2 18 rs637051
dbSNP Clinvar
66504351 2152.73 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.20627 0.20630 0.34664 None None None None None None CCDC102B|0.006657119|83.88%
View combined sample_38.variant2 18 rs485613
dbSNP Clinvar
66504093 5809.38 A C PASS 1/1 178 SYNONYMOUS_CODING LOW None 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%

CCDC178

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_38.variant2 18 rs466113
dbSNP Clinvar
30804756 2292.39 C T PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00477 0.01 0.00 None None None None None None CCDC178|0.012849829|78.59%
View combined sample_38.variant2 18 rs9965081
dbSNP Clinvar
30846895 751.67 A T PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None CCDC178|0.012849829|78.59%

CCDC68

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_38.variant2 18 rs1344011
dbSNP Clinvar
52605188 927.02 C T PASS 1/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CD226

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_38.variant2 18 rs72481820
dbSNP Clinvar
67534642 781.35 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.07248 0.07248 0.07335 0.15 0.02 None None None None None None CD226|0.|85.1%

CDH19

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_38.variant2 18 rs1055335
dbSNP Clinvar
64176365 1268.36 G T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.25240 0.25240 0.29140 None None None None None None CDH19|0.03445316|67.64%

CDH2

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_38.variant2 18 rs1944294
dbSNP Clinvar
25616451 1387.91 A T PASS 0/1 73 None None None 0.20587 0.20590 0.15242 None None None None None None CDH2|0.998144482|0.55%
View combined sample_38.variant2 18 rs41274322
dbSNP Clinvar
25593713 858.94 G C PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.04529 None None None None None None CDH2|0.998144482|0.55%
View combined sample_38.variant2 18 rs1628684
dbSNP Clinvar
25570228 5507.29 G C PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%
View combined sample_38.variant2 18 rs17445840
dbSNP Clinvar
25593694 883.85 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.04633 0.04633 0.04498 0.87 0.01 None None None None None None CDH2|0.998144482|0.55%
View combined sample_38.variant2 18 rs1220144
dbSNP Clinvar
25565082 5230.26 A G PASS 1/1 199 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%

CDH20

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_38.variant2 18 rs12964819
dbSNP Clinvar
59166541 865.95 C T PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%
View combined sample_38.variant2 18 rs595093
dbSNP Clinvar
59170304 2264.3 C G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%

CDH7

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_38.variant2 18 rs2306675
dbSNP Clinvar
63511176 1666.29 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.28987 None None None None None None CDH7|0.157743367|41.9%
View combined sample_38.variant2 18 rs2291343
dbSNP Clinvar
63530016 2366.61 A G PASS 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.41050 0.58 0.03 None None None None None None CDH7|0.157743367|41.9%
View combined sample_38.variant2 18 rs8097752
dbSNP Clinvar
63489378 1424.17 C T PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 None None None None None None CDH7|0.157743367|41.9%

CEP192

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_38.variant2 18 rs474337
dbSNP Clinvar
13095609 3218.66 T C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs578208
dbSNP Clinvar
13068132 4136.11 T C PASS 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs2282541
dbSNP Clinvar
13056333 2764.3 C T PASS 0/1 212 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.29386 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs4499304
dbSNP Clinvar
13001512 1742.32 G C PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.61 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs765275145
dbSNP Clinvar
13124653 626.39 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs1786263
dbSNP Clinvar
13116432 2880.0 G T PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs6505780
dbSNP Clinvar
13069782 3273.48 C T PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View combined sample_38.variant2 18 rs11080618
dbSNP Clinvar
13001523 606.77 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.27416 0.27420 0.03 0.01 None None None None None None CEP192|0.030811627|69.03%

CIDEA

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_38.variant2 18 rs71369912
dbSNP Clinvar
12254562 2560.77 C CC... PASS 0/1 152 None None None 0.38459 0.38460 None None None None None None CIDEA|0.01791692|75.33%
View combined sample_38.variant2 18 rs11545881
dbSNP Clinvar
12274104 643.82 G T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.36422 0.36420 0.30594 0.29 0.08 None None None None None None CIDEA|0.01791692|75.33%
View combined sample_38.variant2 18 rs7505615
dbSNP Clinvar
12254816 1264.02 A G PASS 0/1 112 None None None 0.27955 0.27960 0.21437 0.00 None None None None None None CIDEA|0.01791692|75.33%
View combined sample_38.variant2 18 rs11873135
dbSNP Clinvar
12254785 925.73 G C PASS 0/1 112 None None None 0.17572 0.17570 0.15355 0.00 None None None None None None CIDEA|0.01791692|75.33%

CNDP1

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_38.variant2 18 rs4263028
dbSNP Clinvar
72228124 5534.25 A G PASS 1/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None CNDP1|0.024865105|71.86%
View combined sample_38.variant2 18 rs12960862
dbSNP Clinvar
72234635 1630.08 C T PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.45447 0.45450 0.43449 None None None None None None CNDP1|0.024865105|71.86%

CNDP2

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_38.variant2 18 rs6566811
dbSNP Clinvar
72163592 2794.38 G A PASS 0/1 245 None None None 0.44229 0.44230 0.00 0.00 None None None None None None CNDP2|0.038665668|66.22%

COLEC12

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_38.variant2 18 rs3826628
dbSNP Clinvar
346821 1322.29 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.23323 0.23320 0.22697 None None None None None None COLEC12|0.362523137|23.25%
View combined sample_38.variant2 18 rs2305026
dbSNP Clinvar
334758 906.42 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%

CTAGE1

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_38.variant2 18 rs7227477
dbSNP Clinvar
19996011 5224.41 G A PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.49421 0.49420 0.45710 None None None None None None CTAGE1|0.001673826|91.99%
View combined sample_38.variant2 18 rs9946145
dbSNP Clinvar
19995753 4027.34 T C PASS 1/1 152 SYNONYMOUS_CODING LOW None 0.68550 0.68550 0.26563 None None None None None None CTAGE1|0.001673826|91.99%

CTDP1

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_38.variant2 18 rs626169
dbSNP Clinvar
77513721 3195.52 T C PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.89517 0.89520 0.10357 None None None None None None CTDP1|0.016641517|76.13%
View combined sample_38.variant2 18 rs2279103
dbSNP Clinvar
77473127 1322.11 C T PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.08267 0.08267 0.13132 0.74 0.01 None None None None None None CTDP1|0.016641517|76.13%
View combined sample_38.variant2 18 rs141075287
dbSNP Clinvar
77475086 1896.42 C T PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00039 None None None None None None CTDP1|0.016641517|76.13%
View combined sample_38.variant2 18 rs17855830
dbSNP Clinvar
77440128 265.57 T G PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.65535 0.65540 0.91 0.00 None None None None None None CTDP1|0.016641517|76.13%

CTIF

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_38.variant2 18 rs3764481
dbSNP Clinvar
46343666 930.97 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.13518 0.13520 0.10687 None None None None None None CTIF|0.243907719|32.11%

CXXC1

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_38.variant2 18 rs7228084
dbSNP Clinvar
47810351 1904.48 A G PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.71446 0.71450 0.31370 None None None None None None CXXC1|0.180356139|38.99%
View combined sample_38.variant2 18 rs11555886
dbSNP Clinvar
47812587 3493.45 C T PASS 0/1 318 SYNONYMOUS_CODING LOW None 0.07069 0.07069 0.10111 None None None None None None CXXC1|0.180356139|38.99%

DCC

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_38.variant2 18 rs2229082
dbSNP Clinvar
50936994 1058.48 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.31030 0.31030 0.43587 None None None None None None DCC|0.980899041|1.44%
View combined sample_38.variant2 18 rs2229080
dbSNP Clinvar
50432602 2046.25 C G PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.47744 0.47740 0.35937 0.07 0.42 None None None None None None DCC|0.980899041|1.44%
View combined sample_38.variant2 18 rs2270951
dbSNP Clinvar
50942653 1819.39 C T PASS 0/1 179 None None None 0.31030 0.31030 0.03 0.00 None None None None None None DCC|0.980899041|1.44%
View combined sample_38.variant2 18 rs9951523
dbSNP Clinvar
49867224 7473.59 T C PASS 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.01084 0.53 0.00 None None None None None None DCC|0.980899041|1.44%
View combined sample_38.variant2 18 rs13381333
dbSNP Clinvar
50278686 1608.65 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.06769 0.06769 0.10887 None None None None None None DCC|0.980899041|1.44%

DLGAP1

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_38.variant2 18 rs3745051
dbSNP Clinvar
3729175 1837.24 C T PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.17387 None None None None None None DLGAP1|0.732447726|7.58%
View combined sample_38.variant2 18 rs35715722
dbSNP Clinvar
3534322 1440.21 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.01957 0.01957 0.02230 None None None None None None DLGAP1|0.732447726|7.58%