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 at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
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FRG2C

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 16hpc01701_s1 genome 3 rs73840318
dbSNP Clinvar
75713669 4.97 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.00 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 rs73840323
dbSNP Clinvar
75714337 9.8 T G LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 rs73840324
dbSNP Clinvar
75714345 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.24 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 rs73840339
dbSNP Clinvar
75715118 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 rs72503535
dbSNP Clinvar
75715124 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.27 1.00 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 . 75715173 14.92 C T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.99 None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 . 75715174 14.92 T G LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None FRG2C|0.000891988|96.07%
View 16hpc01701_s1 genome 3 . 75715181 14.92 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.16 None None None None None None FRG2C|0.000891988|96.07%
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