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: 6
Number of Genes: 1

Export to: CSV
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FAM198A

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 94533-0209701724_ms_onbait 3 rs658958
dbSNP Clinvar
43073761 3267783.69 G A PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43830 0.43830 0.38371 None None None None None None FAM198A|0.022008467|73.15%
View 94533-0209701724_ms_onbait 3 rs2948619
dbSNP Clinvar
43074430 4185033.7 A G PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.42400 None None None None None None FAM198A|0.022008467|73.15%
View 94533-0209701724_ms_onbait 3 rs2936817
dbSNP Clinvar
43074434 2981659.19 C T PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.43870 0.43870 0.38305 0.11 0.18 None None None None None None FAM198A|0.022008467|73.15%
View 94533-0209701724_ms_onbait 3 rs588335
dbSNP Clinvar
43074871 6071452.79 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.94828 0.94830 0.05607 None None None None None None FAM198A|0.022008467|73.15%
View 94533-0209701724_ms_onbait 3 rs536119
dbSNP Clinvar
43095101 4025866.85 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.54113 0.54110 0.44065 1.00 0.00 None None None None None None FAM198A|0.022008467|73.15%
View 94533-0209701724_ms_onbait 3 rs3732858
dbSNP Clinvar
43097765 739912.56 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.16613 0.16610 0.13338 0.00 0.99 None None None None None None FAM198A|0.022008467|73.15%
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