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 at Omim

BRCA2, CFTR,
BRCA2 {Breast-ovarian cancer, familial, 2}, 612555 (3)
{Glioblastoma 3}, 613029 (3)
{Medulloblastoma}, 155255 (3)
{Pancreatic cancer 2}, 613347 (3)
{Prostate cancer}, 176807 (3)
Fanconi anemia, complementation group D1, 605724 (3)
Wilms tumor, 194070 (3)
{Breast cancer, male, susceptibility to}, 114480 (3)
CFTR {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)

Genes at Clinical Genomics Database

BRCA2, CFTR,
BRCA2 Breast-ovarian cancer, familial, susceptibility to
Pancreatic cancer, susceptibility to, 2
Glioma susceptibility 3
Fanconi anemia, complementation group D1
Wilms tumor
Medulloblastoma
CFTR Cystic fibrosis

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 2

Export to: CSV
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BRCA2

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 1_s1 genome 13 rs1801406
dbSNP Clinvar
32911888 754.63 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.26677 0.26680 0.27984 None None None None None None None
View 1_s1 genome 13 rs206075
dbSNP Clinvar
32913055 5220.89 A G PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.97404 0.97400 0.02423 None None None None None None None
View 1_s1 genome 13 rs206076
dbSNP Clinvar
32915005 1812.97 G C PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.00040 0.97360 0.02453 None None None None None None None
View 1_s1 genome 13 . 32929184 443.62 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None None
View 1_s1 genome 13 rs1799955
dbSNP Clinvar
32929232 5826.14 A G PASS 0/1 484 SYNONYMOUS_CODING LOW None 0.23263 0.23260 0.21136 None None None None None None None

CFTR

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 1_s1 genome 7 . 117144352 6.74 A G LowGQX 0/1 5 SYNONYMOUS_CODING LOW None None None None None None None None
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