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

FANCD2, TSC1,
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)

Genes at Clinical Genomics Database

FANCD2, TSC1,
FANCD2 Fanconi anemia, complementation group D2
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis

Genes at HGMD

Summary

Number of Variants: 2
Number of Genes: 2

Export to: CSV
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FANCD2

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 5_s5 3 rs72492997
dbSNP Clinvar
10088266 523.51 G T LowVariantFreq 0/1 468 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None None

TSC1

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 5_s5 9 rs7862221
dbSNP Clinvar
135782221 7779.52 T C PASS 0/1 717 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13858 0.13860 0.17092 None None None None None None TSC1|0.596037841|11.9%
  • Page 1 of 1