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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
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 wes_0001 hg19 bwa gatk freebayes combined 17 rs2955626
dbSNP Clinvar 		618100 352.78 C G PASS 1/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.66753 0.66750 None None None None None None VPS53|0.411696194|20.07%
View wes_0001 hg19 bwa gatk freebayes combined 16 rs6600164
dbSNP Clinvar 		1756178 44.77 T C LowCoverage;LowQual 0/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.46086 0.46090 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 19 rs929263
dbSNP Clinvar 		663373 83.28 C T LowCoverage 1/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.85783 0.85780 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 7 rs77036114
dbSNP Clinvar 		56174351 72.28 C G LowCoverage 1/1 0 MOTIF[MA0062.1:Gabp] MODIFIER None 0.00220 0.13680 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 7 rs146847249
dbSNP Clinvar 		56174353 63.25 CG C PASS 1/1 0 MOTIF[MA0062.1:Gabp] LOW None 0.13838 0.13840 None None None None None None None
View wes_0001 hg19 bwa gatk freebayes combined 21 rs374019516,rs60255358
dbSNP Clinvar 		33765320 281.75 AG... A PASS 1/1 0 MOTIF[MA0062.1:Gabp] LOW None 0.12820 0.12820 None None None None None None URB1|0.0146609|77.4%
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