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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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PTK2

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 6422_s23 8 rs10100025
dbSNP Clinvar
141716284 100.0 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.14876 0.14880 0.13255 None None None None None None PTK2|0.369628478|22.73%
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 6422_s23 8 rs185698669
dbSNP Clinvar
141840512 100.0 G A PASS 0/1 44 None None None 0.00339 0.00340 None None None None None None PTK2|0.369628478|22.73%
View 6422_s23 8 rs73714745
dbSNP Clinvar
141756843 100.0 T C PASS 0/1 29 None None None 0.02616 0.02616 0.02199 None None None None None None PTK2|0.369628478|22.73%
View 6422_s23 8 rs4246127
dbSNP Clinvar
141840645 100.0 G A PASS 1/1 45 None None None 0.64137 0.64140 0.43709 None None None None None None PTK2|0.369628478|22.73%
View 6422_s23 8 rs56299641
dbSNP Clinvar
141716155 100.0 G A PASS 0/1 50 None None None 0.04752 0.04752 None None None None None None PTK2|0.369628478|22.73%
View 6422_s23 8 rs6998337
dbSNP Clinvar
141685641 100.0 C A PASS 1/1 31 None None None 0.76797 0.76800 0.17902 None None None None None None PTK2|0.369628478|22.73%
View 6422_s23 8 rs3835176,rs398010096
dbSNP Clinvar
141669818 100.0 AT A PASS 1/1 95 None None None 0.00200 0.75580 None None None None None None PTK2|0.369628478|22.73%
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