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

KMT2C,
KMT2C Kleefstra syndrome 2, 617768 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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CHDC2

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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc X rs752519501,rs112700338
dbSNP Clinvar
36162684 2289.73 C CTG PASS 1/1 52 FRAME_SHIFT+STOP_GAINED HIGH None 0.39417 0.39420 0.30015 None None None None None None None

KMT2C

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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs150073007
dbSNP Clinvar
151945071 675.73 G GT PASS 0/1 203 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

MROH8

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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 20 . 35807790 2975.73 G GC... PASS 1/1 53 FRAME_SHIFT+STOP_GAINED HIGH None 0.32368 None None None None None None MROH8|0.030021625|69.39%,RPN2|0.272886189|29.64%

PPP1R13L

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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 19 . 45899069 737.73 C CG... PASS 0/1 36 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None PPP1R13L|0.036116985|67.08%

WWTR1

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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 3 rs112399999
dbSNP Clinvar
149238595 1235.73 C CTTAA PASS 0/1 62 FRAME_SHIFT+STOP_GAINED HIGH None 0.11442 0.11440 0.10719 None None None None None None WWTR1|0.656667266|9.85%
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