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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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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
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+ Genes 1

Genes:
MGAM,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 1

Export to: CSV
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MGAM
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 4k20002_01 gatk 7 rs6975672
dbSNP Clinvar 		141796131 3868.98 G A . 0/1 147 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.67792 0.67790 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs112023682
dbSNP Clinvar 		141786096 1861.77 T C . 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05531 0.05531 0.19 0.30 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs147452018
dbSNP Clinvar 		141783180 808.77 A G . 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.04213 0.04213 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs149265215
dbSNP Clinvar 		141782370 1076.77 G A . 0/1 68 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.04213 0.04213 0.00 0.98 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs146424332
dbSNP Clinvar 		141781946 1380.77 C T . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03814 0.03814 0.07 0.00 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs10271669
dbSNP Clinvar 		141781935 1402.77 G A . 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.24601 0.24600 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs117482862
dbSNP Clinvar 		141780627 720.77 G A . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04193 0.04193 0.61 0.98 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs13311070
dbSNP Clinvar 		141778230 1785.77 A C . 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07328 0.07328 1.00 0.00 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs117382640
dbSNP Clinvar 		141776575 835.77 T A . 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04692 0.04692 0.10 0.90 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs2960746
dbSNP Clinvar 		141747658 8086.77 A G . 1/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99441 0.99440 0.00739 1.00 0.00 None None None None None None MGAM|0.010840797|80.22%
View 4k20002_01 gatk 7 rs184251058
dbSNP Clinvar 		141747618 4217.77 A G . 0/1 232 SYNONYMOUS_CODING LOW SILENT 0.00659 0.00659 0.00066 None None None None None None MGAM|0.010840797|80.22%
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