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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 15
Number of Genes: 0

Export to: CSV
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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_93.variant38 4 rs770179690
dbSNP Clinvar
4288373 966.99 CTT C,... PASS 2/4 42 None None None None None None None None None LYAR|0.040453021|65.63%
View combined sample_93.variant38 6 . 100833545 3515.41 AT... A,... PASS 2/4 39 None None None None None None None None None SIM1|0.939430189|2.5%
View combined sample_93.variant38 12 rs112223147,rs555638888
dbSNP Clinvar
119632510 445.99 TT... T,... PASS 2/4 13 None None None None None None None None None HSPB8|0.036079821|67.09%
View combined sample_93.variant38 13 rs3832901,rs57199834
dbSNP Clinvar
110821844 654.75 A AA... PASS 2/4 8 None None None 0.47125 0.47120 None None None None None None COL4A1|0.224151486|33.94%
View combined sample_93.variant38 17 rs372749442,rs71160134,rs878922517
dbSNP Clinvar
21194658 2437.66 T TA... PASS 2/4 19 None None None None None None None None None MAP2K3|0.4379498|18.79%
View combined sample_93.variant38 1 rs370354075
dbSNP Clinvar
44483040 260.83 AA... AA... PASS 2/4 27 None None None None None None None None None SLC6A9|0.487510755|16.43%
View combined sample_93.variant38 1 rs766294419
dbSNP Clinvar
110301766 464.39 AG... AG... PASS 2/4 32 None None None None None None None None None GSTM5|0.009497757|81.28%,EPS8L3|0.013583387|78.12%
View combined sample_93.variant38 4 rs200401097,rs538098842,rs567463413
dbSNP Clinvar
77065476 2780.55 TAAA T,... PASS 2/4 53 None None None 0.21250 None None None None None None NUP54|0.507295203|15.51%
View combined sample_93.variant38 8 rs796400108,rs200587602
dbSNP Clinvar
28909415 467.32 TA... TA... PASS 2/4 66 None None None 0.30252 0.30250 None None None None None None HMBOX1|0.694571346|8.66%
View combined sample_93.variant38 12 . 117905724 296.57 GT G,... PASS 2/4 26 None None None None None None None None None KSR2|0.376897848|22.26%
View combined sample_93.variant38 13 rs376958924
dbSNP Clinvar
43681660 4271.46 TA... TA... PASS 2/4 129 None None None None None None None None None DNAJC15|0.15998347|41.55%
View combined sample_93.variant38 21 rs746924482
dbSNP Clinvar
30391671 2040.97 GAAAA G,... PASS 2/4 24 None None None None None None None None None RWDD2B|0.047969029|63.33%
View combined sample_93.variant38 22 rs71679890,rs529542864
dbSNP Clinvar
31971071 413.64 CG... CG... PASS 2/4 10 None None None None None None None None None SFI1|0.009882452|80.95%
View combined sample_93.variant38 11 rs113340412,rs139850943,rs35006409
dbSNP Clinvar
18428637 1734.26 A AT... PASS 2/4 27 None None None None None None None None None LDHA|0.651134998|10.07%
View combined sample_93.variant38 13 rs144160325
dbSNP Clinvar
111364877 231.69 A AG... PASS 2/4 11 MOTIF[MA0062.1:Gabp] LOW None None None None None None None CARS2|0.018441874|74.99%
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