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

RBMX,
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)

Genes at Clinical Genomics Database

RBMX,
RBMX Mental retardation, X-linked, syndromic 11, Shashi type

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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HRNR

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 1 rs34061715,rs530205886,rs397824794
dbSNP Clinvar
152195728 1208.03 AT A PASS 1/1 50 FRAME_SHIFT+START_LOST HIGH 0.87400 None None None None None None HRNR|0.000187528|99.8%

KRTAP4-8

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 17 rs201764113
dbSNP Clinvar
39254335 6518.06 A AT PASS 1/1 176 FRAME_SHIFT+START_LOST HIGH 0.56430 0.56430 0.37380 None None None None None None KRTAP4-8|0.007356666|83.19%

LGALS9B

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 17 rs554373055
dbSNP Clinvar
20370782 73.64 A ATC basic_indel_filter 0/1 45 FRAME_SHIFT+START_LOST HIGH 0.16594 0.16590 0.14254 None None None None None None LGALS9B|0.002599696|89.48%

NUDT11

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered X rs782744505,rs78182391
dbSNP Clinvar
51239295 1447.03 AT... A PASS 1/1 33 FRAME_SHIFT+START_LOST HIGH 0.63735 0.63740 0.07187 None None None None None None NUDT11|0.016769294|76.04%

RBMX

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered X rs749546542
dbSNP Clinvar
135961585 112.64 A AT PASS 0/1 33 FRAME_SHIFT+START_LOST HIGH 0.00344 0.00344 None None None None None None RBMX|0.529633182|14.6%
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