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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ALDH18A1, ASPA, ASS1, C3, DSP, FN1, MLYCD, PHYH, PMS2, PPP2R1A, PRKG1, TOP2A, VCP,
ALDH18A1 Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Cutis laxa, autosomal dominant 3, 616603 (3)
ASPA Canavan disease, 271900 (3)
ASS1 Citrullinemia, 215700 (3)
C3 {Macular degeneration, age-related, 9}, 611378 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
DSP Skin fragility-woolly hair syndrome, 607655 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
FN1 Plasma fibronectin deficiency, 614101 (1)
Glomerulopathy with fibronectin deposits 2, 601894 (3)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
PHYH Refsum disease, 266500 (3)
PMS2 Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
VCP Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)

Genes at Clinical Genomics Database

ALDH18A1, ASPA, ASS1, C3, DSP, FN1, MLYCD, PHYH, PMS2, PPP2R1A, PRKG1, SERPINE1, VCP,
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ASPA Aspartoacylase deficiency (Canavan disease)
ASS1 Citrullinemia
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
FN1 Glomerulopathy with fibronectin deposits 2
MLYCD Malonyl-CoA decarboxylase deficiency
PHYH Refsum disease
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PPP2R1A Mental retardation, autosomal dominant 36
PRKG1 Aortic aneurysm, familial thoracic 8
SERPINE1 Plasminogen activator inhibitor-1 deficiency
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

Genes at HGMD

Summary

Number of Variants: 25
Number of Genes: 23

Export to: CSV

ACAP1

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 23 recalibrated filtered postcgp gqfiltered 17 . 7251263 1613.9 T C PASS 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.34 None None None None None None None

ALDH18A1

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 23 recalibrated filtered postcgp gqfiltered 10 . 97385107 23560.28 GA... G,* PASS 2/2 9 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

ALOX15B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 7945769 67584.53 C G PASS 0/1 60 PROTEIN_INTERACTION_LOCUS HIGH 0.52 0.00 None None None None None None None

ASPA

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 23 recalibrated filtered postcgp gqfiltered 17 . 3397649 1127.63 G A PASS 0/1 75 PROTEIN_INTERACTION_LOCUS HIGH 0.26 0.41 None None None None None None None

ASS1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 133333974 3694.84 A G PASS 1/1 3 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.95 None None None None None None None

C3

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 23 recalibrated filtered postcgp gqfiltered 19 . 6690735 10313.28 A G PASS 0/1 55 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

DOHH

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 23 recalibrated filtered postcgp gqfiltered 19 . 3492320 782.39 G C PASS 0/1 61 PROTEIN_INTERACTION_LOCUS HIGH 0.02 0.27 None None None None None None None

DSP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 7565652 11070.85 G A PASS 1/1 48 PROTEIN_INTERACTION_LOCUS HIGH 0.04 None None None None None None None

ENDOV

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 23 recalibrated filtered postcgp gqfiltered 17 rs775271641
dbSNP
78399340 82280.21 G A PASS 0/1 29 PROTEIN_INTERACTION_LOCUS HIGH 0.00 1.00 None None None None None None None

EYA2

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 23 recalibrated filtered postcgp gqfiltered 20 rs761096505
dbSNP
45725733 75496.51 G A PASS 1/1 24 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.97 None None None None None None None

FN1

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 23 recalibrated filtered postcgp gqfiltered 2 . 216257687 2596.09 T C PASS 1/1 5 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

MLYCD

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 23 recalibrated filtered postcgp gqfiltered 16 . 83948855 1608.21 A G PASS 1/1 4 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

MVB12B

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 23 recalibrated filtered postcgp gqfiltered 9 . 129148856 3206.3 G C PASS 1/1 17 PROTEIN_INTERACTION_LOCUS HIGH 0.01 1.00 None None None None None None None

PHYH

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 23 recalibrated filtered postcgp gqfiltered 10 rs367762012
dbSNP
13336445 17254.1 A G PASS 1/1 109 PROTEIN_INTERACTION_LOCUS HIGH 0.00008 0.00 1.00 None None None None None None None

PMS2

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 23 recalibrated filtered postcgp gqfiltered 7 . 6038837 8573.6 C A PASS 0/1 7 PROTEIN_INTERACTION_LOCUS HIGH 0.23 0.04 None None None None None None None

PPP2R1A

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 23 recalibrated filtered postcgp gqfiltered 19 . 52729040 1125.14 A G PASS 0/1 31 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.96 None None None None None None None

PRKG1

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 23 recalibrated filtered postcgp gqfiltered 10 . 53822312 210.63 G A PASS 0/1 20 PROTEIN_INTERACTION_LOCUS HIGH 1.00 0.00 1.95 None None rs114137983 2 not_specified 1 None

PTPN23

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 23 recalibrated filtered postcgp gqfiltered 3 . 47422632 20029.57 A G PASS 1/1 46 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

SERPINE1

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 23 recalibrated filtered postcgp gqfiltered 7 . 100773849 15443.24 CCAT C PASS 1/1 98 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

SULT1A2

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 23 recalibrated filtered postcgp gqfiltered 16 . 28606747 35339.5 G A PASS 0/1 22 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 rs775873329
dbSNP
28607125 32507.5 T C PASS 0/1 170 PROTEIN_INTERACTION_LOCUS HIGH 0.11 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 28606744 33763.5 A T PASS 0/1 21 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

TOM1

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 23 recalibrated filtered postcgp gqfiltered 22 . 35718007 41431.11 C T PASS 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.85 None None None None None None None

TOP2A

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 23 recalibrated filtered postcgp gqfiltered 17 . 38568061 374.62 C T PASS 0/1 11 PROTEIN_INTERACTION_LOCUS HIGH 0.00 1.00 None None None None None None None

VCP

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 23 recalibrated filtered postcgp gqfiltered 9 . 35062975 256269.64 C T PASS 1/1 40 PROTEIN_INTERACTION_LOCUS HIGH 0.00 1.00 None None None None None None None