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: 11
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 index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 2 rs550352683,rs11401690
dbSNP Clinvar
85133698 1872.73 A AC . 0/1 219 MOTIF[MA0079.1:SP1] LOW None 0.05871 0.05871 None None None None None None TRABD2A|0.008002444|82.63%,TMSB10|0.307484536|27.05%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 2 rs7579996
dbSNP Clinvar
110371692 1174.77 C A . 0/1 90 MOTIF[MA0079.1:SP1] LOW None 0.28075 0.28080 None None None None None None SEPT10|0.098372195|51.47%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 12 rs527792933
dbSNP Clinvar
113376249 507.77 G T . 0/1 35 MOTIF[MA0079.1:SP1] LOW None 0.00160 0.00160 None None None None None None OAS3|0.003222049|88.28%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 19 rs71337080
dbSNP Clinvar
2042285 215.78 C T . 1/1 8 MOTIF[MA0079.1:SP1] LOW None 0.44010 0.44010 None None None None None None MKNK2|0.050523772|62.5%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 19 rs550601112,rs3214450
dbSNP Clinvar
55964546 746.73 G GC . 1/1 27 MOTIF[MA0079.1:SP1] LOW None 0.00200 0.42430 None None None None None None ISOC2|0.014818901|77.28%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 20 rs7263309
dbSNP Clinvar
271168 651.77 G C . 0/1 74 MOTIF[MA0079.1:SP1] LOW None 0.15355 0.15360 0.12352 None None None None None None C20orf96|0.00266282|89.34%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 1 rs4233
dbSNP Clinvar
31907457 3178.77 A G . 1/1 109 MOTIF[MA0079.1:SP1] LOW None 0.37680 0.37680 None None None None None None SERINC2|0.042418006|64.98%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 7 rs187041405
dbSNP Clinvar
72993209 93.77 T C . 0/1 15 MOTIF[MA0079.1:SP1] LOW None None None None None None None None
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 2 rs831526
dbSNP Clinvar
74153905 1666.77 C T . 1/1 60 MOTIF[MA0079.1:SP1] LOW None 0.99521 0.99520 None None None None None None None
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 7 rs10261181
dbSNP Clinvar
24911526 1119.77 G A . 0/1 85 MOTIF[MA0079.1:SP1] LOW None 0.44549 0.44550 0.27687 None None None None None None OSBPL3|0.180355322|38.99%
View index9_otb1693_gerard goyette_500-049a_human_hex_av5-utr_50x_03232016 deduplicated realigned recalibrated snpeff snpsift 10 rs3736461
dbSNP Clinvar
5855403 794.77 G C . 0/1 78 MOTIF[MA0079.1:SP1] LOW None 0.08906 0.08906 None None None None None None GDI2|0.399169926|20.83%
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