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: 9
Number of Genes: 6

Export to: CSV
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CYB5R2

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 002-64854-300-scex 11 . 7686606 228.0 T TTGTG . 1/1 59 FRAME_SHIFT+STOP_LOST HIGH None None None None None None CYB5R2|0.057621137|60.52%

NIPA2

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 002-64854-300-scex 15 . 23006215 78.0 CC... CCTT . 0/1 12 FRAME_SHIFT+STOP_LOST HIGH None None None None None None NIPA2|0.228631878|33.48%

RBM5

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 002-64854-300-scex 3 . 50155886 33.1263 gt... g . 0/1 35 FRAME_SHIFT+STOP_LOST HIGH None None None None None None RBM5|0.410458707|20.16%
View 002-64854-300-scex 3 . 50155883 200.0 Gg... Ggag . 0/1 44 FRAME_SHIFT+STOP_LOST HIGH None None None None None None RBM5|0.410458707|20.16%
View 002-64854-300-scex 3 . 50155887 221.0 tg... tg... . 0/1 52 FRAME_SHIFT+STOP_LOST HIGH None None None None None None RBM5|0.410458707|20.16%

SLC7A13

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 002-64854-300-scex 8 rs56993779
dbSNP Clinvar
87226634 130.0 TC... T . 0/1 20 FRAME_SHIFT+STOP_LOST HIGH 0.19329 0.19330 0.09781 None None None None None None SLC7A13|0.001803524|91.52%

TSPAN10

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 002-64854-300-scex 17 . 79614932 228.0 TT... TT... . 1/1 21 FRAME_SHIFT+STOP_LOST HIGH None None None None None None NPLOC4|0.127760741|46.21%,TSPAN10|0.001817218|91.48%

ZAN

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 002-64854-300-scex 7 rs1007604387
dbSNP Clinvar
100385560 228.0 CG... C . 1/1 63 FRAME_SHIFT+STOP_LOST HIGH None None None None None None ZAN|0.002173013|90.5%
View 002-64854-300-scex 7 . 100385561 228.0 GG... GG . 1/1 64 FRAME_SHIFT+STOP_LOST HIGH None None None None None None ZAN|0.002173013|90.5%
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