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

POLRMT

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 23 recalibrated filtered postcgp gqfiltered 19 rs11669858
dbSNP
633381 4547.88 A G PASS 0/1 9 None None None 0.65316 0.65320 0.41630 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs140040005
dbSNP
630098 529.63 C T PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00015 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs11550305,rs55649970
dbSNP
629846 2592.37 G A PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.09824 0.09824 0.13784 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs41553913
dbSNP
623546 3227.04 A G PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04273 0.04273 0.05198 0.01 0.73 3.17 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs2238549
dbSNP
622336 3866.07 T G PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62041 0.62040 0.45118 0.80 0.00 -0.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs2238547
dbSNP
621712 15989.12 A G PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.62001 0.62000 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs14155
dbSNP
619021 21874.71 G C PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.62240 0.62240 0.44697 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs41551212
dbSNP
617614 4597.35 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.09085 0.09085 0.13102 None None None None None None None