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

CEBPA,
CEBPA ?Leukemia, acute myeloid, 601626 (3)
Leukemia, acute myeloid, somatic, 601626 (3)

Genes at Clinical Genomics Database

CEBPA,
CEBPA Acute myeloid leukemia, familial

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV

CEBPA

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 pc751_s1 19 . 33792689 5.92 G A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None
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 pc751_s1 19 rs2735839
dbSNP
51364623 855.76 A G PASS 0/1 95 None None None 0.67552 0.67550 None None None None None None None
View pc751_s1 19 rs11083846
dbSNP
47207654 1644.06 G A PASS 0/1 177 None None None 0.09565 0.09565 0.17992 None None None None None None None
View pc751_s1 19 rs8102476
dbSNP
38735613 224.95 C T PASS 0/1 24 None None None 0.45767 0.45770 None None None None None None None
View pc751_s1 19 rs8102137
dbSNP
30296853 566.77 T C PASS 0/1 73 None None None 0.15735 0.15730 None None None None None None None