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: 7
Number of Genes: 1

Export to: CSV
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MRPL20

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 16hpc01701_s1 genome 1 rs147491797
dbSNP Clinvar
1337539 9.8 T A LowGQ;LowGQX;SB 1/1 1 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00180 0.00180 0.00131 0.04 0.00 None None None None None None MRPL20|0.020951505|73.7%
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 16hpc01701_s1 genome 13 rs67765306
dbSNP Clinvar
40229842 616.09 A AG PASS 0/1 47 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View 16hpc01701_s1 genome 17 rs820387
dbSNP Clinvar
73746146 1941.79 T C PASS 1/1 61 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View 16hpc01701_s1 genome 17 rs55715426
dbSNP Clinvar
73760820 121.58 G A LowGQ;LowGQX 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09984 0.09984 0.10000 None None None None None None GALK1|0.289083483|28.42%
View 16hpc01701_s1 genome 22 . 41488581 7.08 C A LowGQ;LowGQX;SB 1/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None EP300|0.997012534|0.67%
View 16hpc01701_s1 genome 11 rs2074039
dbSNP Clinvar
44092880 632.49 C T PASS 0/1 82 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View 16hpc01701_s1 genome 17 . 73590774 4.97 C A LowGQX;LowQD;SB 0/1 3 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None MYO15B|0.030988884|68.97%
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