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: 8
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 father filtered_variants 19 rs79749579,rs386388574,rs386365455
dbSNP Clinvar
12662318 4793.86 G GC PASS 1/1 34 MOTIF[MA0114.1:HNF4A] LOW 0.99241 0.99240 None None None None None None ZNF564|0.000930238|95.9%
View father filtered_variants 14 rs67238064
dbSNP Clinvar
24768947 416.88 AG A PASS 0/1 8 MOTIF[MA0114.1:HNF4A] LOW 0.26777 0.26780 None None None None None None DHRS1|0.040246768|65.68%
View father filtered_variants 6 rs3798319
dbSNP Clinvar
167595070 809.92 C T SNP_MappingQuality;SnpCluster 0/1 32 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None TCP10L2|0.00037508|99.11%
View father filtered_variants 6 rs200500
dbSNP Clinvar
27791865 2502.92 G T SNP_MappingQuality;SNP_StrandBias 0/1 153 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None
View father filtered_variants 10 rs1126827
dbSNP Clinvar
48438734 4308.13 C T PASS 1/1 43 MOTIF[MA0114.1:HNF4A] MODIFIER 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View father filtered_variants 6 rs199865018
dbSNP Clinvar
167786991 1398.92 G A SNP_MappingQuality;SnpCluster 0/1 69 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None TCP10|0.000628006|97.7%
View father filtered_variants 19 rs3848638
dbSNP Clinvar
1383649 2255.16 G T PASS 0/1 45 MOTIF[MA0114.1:HNF4A] MODIFIER 0.38119 0.38120 None None None None None None NDUFS7|0.029181719|69.79%
View father filtered_variants 11 . 61100855 11.44 C A LowQual 0/1 3 MOTIF[MA0114.1:HNF4A] LOW None None None None None None DDB1|0.893451935|3.59%,TKFC|0.087972053|53.65%
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