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_96.variant41 2 rs3731838
dbSNP Clinvar
38960927 2316.02 G A PASS 1/1 54 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.63898 0.63900 None None None None None None GALM|0.264774088|30.32%
View combined sample_96.variant41 6 rs9501868
dbSNP Clinvar
2667349 349.31 T C PASS 0/1 22 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.32209 0.32210 None None None None None None MYLK4|0.069271127|57.67%
View combined sample_96.variant41 6 rs9501869
dbSNP Clinvar
2667370 279.88 T A PASS 0/1 19 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.32190 None None None None None None MYLK4|0.069271127|57.67%
View combined sample_96.variant41 6 rs199865018
dbSNP Clinvar
167786991 84.71 G A PASS 0/1 27 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None TCP10|0.000628006|97.7%
View combined sample_96.variant41 10 rs1126827
dbSNP Clinvar
48438734 3638.59 C T PASS 0/1 104 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View combined sample_96.variant41 10 rs2297887
dbSNP Clinvar
60029283 1204.54 G A PASS 0/1 65 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.11042 0.11040 None None None None None None CISD1|0.294546332|28.08%
View combined sample_96.variant41 19 rs79749579,rs386388574,rs386365455
dbSNP Clinvar
12662318 5501.05 G GC PASS 1/1 219 MOTIF[MA0114.1:HNF4A] LOW None 0.99241 0.99240 None None None None None None ZNF564|0.000930238|95.9%
View combined sample_96.variant41 3 rs147398495,rs869279285,rs148977443
dbSNP Clinvar
46249943 31.81 GTTC G PASS 1/1 8 MOTIF[MA0114.1:HNF4A] LOW None 0.64197 0.64200 None None None None None None CCR3|0.024651791|71.95%
View combined sample_96.variant41 6 rs115424863
dbSNP Clinvar
24495027 950.73 C T PASS 0/1 57 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.01298 0.01298 None None None None None None GPLD1|0.02193833|73.21%
View combined sample_96.variant41 14 rs67238064
dbSNP Clinvar
24768947 1217.6 AG A PASS 0/1 65 MOTIF[MA0114.1:HNF4A] LOW None 0.26777 0.26780 None None None None None None DHRS1|0.040246768|65.68%
View combined sample_96.variant41 18 rs4797103
dbSNP Clinvar
3261764 676.78 G T PASS 1/1 18 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.90355 0.90360 None None None None None None None
View combined sample_96.variant41 19 rs3848638
dbSNP Clinvar
1383649 3231.88 G T PASS 1/1 154 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.38119 0.38120 None None None None None None NDUFS7|0.029181719|69.79%
View combined sample_96.variant41 3 rs771261337
dbSNP Clinvar
119395929 643.67 GG... G PASS 0/1 38 MOTIF[MA0114.1:HNF4A] LOW None None None None None None None COX17|0.296566453|27.92%
View combined sample_96.variant41 6 rs200500
dbSNP Clinvar
27791865 690.48 G T PASS 1/1 28 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None None
View combined sample_96.variant41 17 rs74933984
dbSNP Clinvar
41046727 1308.86 G A PASS 0/1 24 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.05631 0.05631 None None None None None None None
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