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

BUB1B, FANCI,
BUB1B [Premature chromatid separation trait], 176430 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Colorectal cancer, somatic, 114500 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)

Genes at Clinical Genomics Database

BUB1B, FANCI,
BUB1B Premature chromatid separation trait
Mosaic variegated aneuploidy syndrome
FANCI Fanconi anemia, complementation group I

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 2

Export to: CSV

BUB1B

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 15 rs1047130
dbSNP
40488851 1613.32 G A PASS 0/1 134 SYNONYMOUS_CODING LOW SILENT 0.19070 0.19070 0.22643 None None None None None None None
View pc751_s1 15 rs1801376
dbSNP
40477831 2437.25 G A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62820 0.62820 0.26403 1.00 0.00 None None None None None None None

FANCI

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 15 rs7183618
dbSNP
89838236 705.76 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.98083 0.98080 0.03993 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 15 rs4775302
dbSNP
46639808 1224.8 G A PASS 0/1 113 None None None 0.40795 0.40790 None None None None None None None
View pc751_s1 15 rs4775699
dbSNP
47873549 516.1 C T PASS 0/1 53 None None None 0.37081 0.37080 0.43252 None None None None None None None
View pc751_s1 15 rs7176508
dbSNP
70018990 605.07 A G PASS 0/1 69 None None None 0.68690 0.68690 None None None None None None None
View pc751_s1 15 rs4924410
dbSNP
40339494 1327.31 A C PASS 1/1 57 None None None 0.79273 0.79270 None None None None None None None
View pc751_s1 15 rs4779584
dbSNP
32994756 500.06 T C PASS 0/1 63 None None None 0.50699 0.50700 None None None None None None None