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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SYT8

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 sp16_multisample SP16_819 11 rs564271
dbSNP Clinvar
1857173 920.13 T C PASS 1/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.98323 0.98320 0.01607 1.00 0.00 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs907608
dbSNP Clinvar
1857243 55.43 G A PASS 0/1 26 None None None 0.11921 0.11920 0.10591 0.05 0.42 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs907609
dbSNP Clinvar
1857270 63.76 C T PASS 0/1 23 None None None 0.14038 0.14040 0.76 0.00 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs3741232
dbSNP Clinvar
1857747 398.71 T C PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.33786 0.33790 0.34229 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs3741231
dbSNP Clinvar
1857751 397.12 C G PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.33786 0.33790 0.34003 0.00 0.29 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs3741230
dbSNP Clinvar
1857762 283.88 C T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.09125 0.09125 0.09461 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs2292474
dbSNP Clinvar
1858572 423.11 C T PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.38498 0.38500 0.38836 1.00 0.00 None None None None None None SYT8|0.001620836|92.25%
View sp16_multisample SP16_819 11 rs138428155
dbSNP Clinvar
1858632 193.75 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00925 0.03 0.00 None None None None None None SYT8|0.001620836|92.25%
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