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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

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GENE LIST:
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OMIM:
CLINICAL GENOMICS DATABASE:
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MUTATION TYPE:
 CHR:

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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
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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

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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 3

Genes:
IGHV5-51, IQCA1, TRPM5,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 3

Export to: CSV
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IGHV5-51
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 21_s21 genome 14 rs72686844
dbSNP Clinvar 		107034967 226.86 T C LowGQ 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.30 0.01 None None None None None None None
View 21_s21 genome 14 rs200171934
dbSNP Clinvar 		107035002 138.93 A G LowGQ 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None None

IQCA1
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 21_s21 genome 2 rs188950411
dbSNP Clinvar 		237252380 213.22 A G LowGQ 1/1 8 None None None 0.00180 0.00180 None None None None None None IQCA1|0.01279185|78.65%

TRPM5
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 21_s21 genome 11 rs34364959
dbSNP Clinvar 		2432666 42.73 C T LowGQ 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.07868 1.00 0.00 None None None None None None TRPM5|0.01524992|76.97%
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 21_s21 genome 14 rs201053767
dbSNP Clinvar 		107034707 143.05 G T LowGQ 1/1 7 None None None None None None None None None None
View 21_s21 genome 14 rs547837100
dbSNP Clinvar 		107035164 126.37 A C LowGQ 1/1 4 None None None 0.00040 None None None None None None None
View 21_s21 genome 19 rs1060967
dbSNP Clinvar 		49621592 213.21 G C LowGQ 1/1 8 None None None 0.36641 0.36640 0.40174 None None None None None None LIN7B|0.047487196|63.47%
View 21_s21 genome 4 rs13115935
dbSNP Clinvar 		1164552 137.7 A G LowGQ 1/1 6 None None None 0.93930 0.93930 None None None None None None SPON2|0.013919082|77.93%
View 21_s21 genome 6 rs10948059
dbSNP Clinvar 		42928461 141.82 C T LowGQ 1/1 7 None None None 0.39217 0.39220 0.42274 None None None None None None None
View 21_s21 genome 14 rs200210193
dbSNP Clinvar 		107034705 143.05 G A LowGQ 1/1 7 None None None None None None None None None None
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