+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 11

+ Genes associated with diseases 9

Genes at Omim

BSG, CEL, COL1A2, EPAS1, IL1RAPL1, KRT86, OFD1, SERPINH1, ZNF469,
BSG [Blood group, OK], 111380 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
EPAS1 Erythrocytosis, familial, 4, 611783 (3)
IL1RAPL1 Mental retardation, X-linked 21/34, 300143 (3)
KRT86 Monilethrix, 158000 (3)
OFD1 Joubert syndrome 10, 300804 (3)
Orofaciodigital syndrome I, 311200 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
?Retinitis pigmentosa 23, 300424 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

BSG, CEL, COL1A2, EPAS1, IL1RAPL1, KRT86, OFD1, SERPINH1, ZNF469,
BSG Blood group, OK
CEL Maturity-onset diabetes of the young, type 8
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
EPAS1 Erthyrocytosis, familial 4
IL1RAPL1 Mental retardation, X-linked 21/34
KRT86 Monilethrix
OFD1 Orofaciodigital syndrome 1
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
SERPINH1 Osteogenesis imperfecta, type X
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

BSG
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 eb408_unique 19 rs1803535
dbSNP Clinvar 		580710 25243.97 G A VQSRTrancheSNP99.00to99.90 1/1 105 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.02715 None None None None None None None

CEL
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 eb408_unique 9 rs373048848
dbSNP Clinvar 		135946536 1992.76 G A VQSRTrancheSNP99.00to99.90 0/1 183 SYNONYMOUS_CODING LOW None 0.00091 None None None None None None CEL|0.037714386|66.56%

COL1A2
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 eb408_unique 7 . 94040372 229.78 C T VQSRTrancheSNP99.00to99.90 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.54 None None None None None None COL1A2|0.875156049|4.09%

EPAS1
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 eb408_unique 2 rs149994721
dbSNP Clinvar 		46609733 395.55 G A VQSRTrancheSNP99.00to99.90 0/1 11 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00192 None None None None None None EPAS1|0.56101019|13.31%

IL1RAPL1
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 eb408_unique X . 29973256 52.12 C A VQSRTrancheSNP99.00to99.90 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None IL1RAPL1|0.968329118|1.75%

KRT86
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 eb408_unique 12 rs201694571
dbSNP Clinvar 		52695760 3293.53 C G VQSRTrancheSNP99.00to99.90 0/1 118 SYNONYMOUS_CODING LOW None 0.00519 0.00519 0.00273 None None None None None None KRT86|0.255577854|31.06%

OBSCN
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 eb408_unique 1 rs373234268
dbSNP Clinvar 		228437718 1483.76 C T VQSRTrancheSNP99.00to99.90 0/1 135 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None OBSCN|0.023922951|72.24%

OFD1
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 eb408_unique X . 13785281 265.58 G A VQSRTrancheSNP99.00to99.90 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.04 0.49 None None None None None None OFD1|0.028389991|70.25%

SERPINH1
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 eb408_unique 11 rs200265134
dbSNP Clinvar 		75277740 1584.76 C A VQSRTrancheSNP99.00to99.90 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00008 0.90 0.00 None None None None None None SERPINH1|0.421887911|19.52%

TRAF6
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 eb408_unique 11 . 36522810 1126.77 C T VQSRTrancheSNP99.00to99.90 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None TRAF6|0.200523121|36.71%

ZNF469
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 eb408_unique 16 rs76389306
dbSNP Clinvar 		88500957 1527.76 C T VQSRTrancheSNP99.00to99.90 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.02 None None None None None None ZNF469|0.000923153|95.92%
  • Page 1 of 1