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: 19
Number of Genes: 3

Export to: CSV
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CCDC37

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 20160-01-01_s14-kopie 3 rs149511023
dbSNP Clinvar
126137556 5040.04 G A PASS 0/1 452 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00280 0.00280 0.00370 0.04 0.85 None None None None None None CCDC37|0.004773865|86.13%

LRRC31

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 20160-01-01_s14-kopie 3 rs3732451
dbSNP Clinvar
169558025 5045.75 C T PASS 0/1 399 SYNONYMOUS_CODING LOW SILENT 0.55891 0.55890 0.41001 None None None None None None LRRC31|0.008370816|82.26%

ZBBX

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 20160-01-01_s14-kopie 3 rs4619784
dbSNP Clinvar
167068256 2347.39 T A PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25519 0.25520 0.33543 0.00 0.95 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs11923054
dbSNP Clinvar
167051769 1036.31 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25619 0.25620 0.33473 0.21 0.10 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs10936530
dbSNP Clinvar
167051726 1178.73 A G PASS 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.46046 0.46050 0.35808 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs13068132
dbSNP Clinvar
167034814 373.59 T C PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.29453 0.29450 0.37257 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs13096767
dbSNP Clinvar
167023738 1560.84 G C PASS 0/1 136 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.33467 0.33470 0.40984 0.14 0.99 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs12638625
dbSNP Clinvar
167000256 1629.33 G C PASS 0/1 200 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29158 0.01 0.16 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs4257551
dbSNP Clinvar
167077691 3914.74 T A PASS 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.99940 0.99940 0.00398 None None None None None None ZBBX|0.013746887|78.06%
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 20160-01-01_s14-kopie 3 . 180565417 500.57 G GA R8 0/1 150 None None None None None None None None None CCDC39|0.085554052|54.04%
View 20160-01-01_s14-kopie 3 rs11130795
dbSNP Clinvar
60898434 115.4 T C LowVariantFreq 0/1 91 None None None 0.44569 0.44570 0.31531 None None None None None None FHIT|0.998900024|0.43%
View 20160-01-01_s14-kopie 3 rs9290375
dbSNP Clinvar
169566090 1889.05 A G PASS 0/1 137 None None None 0.55891 0.55890 0.41237 None None None None None None LRRC31|0.008370816|82.26%
View 20160-01-01_s14-kopie 3 rs11923256
dbSNP Clinvar
166960278 1631.8 G T PASS 0/1 139 None None None 0.21625 0.21630 0.29976 None None None None None None ZBBX|0.013746887|78.06%
View 20160-01-01_s14-kopie 3 rs1057156
dbSNP Clinvar
127800071 5101.85 A G PASS 0/1 426 None None None 0.20028 0.20030 0.25158 None None None None None None RUVBL1|0.805815825|5.67%
View 20160-01-01_s14-kopie 3 rs1057220
dbSNP Clinvar
127799983 3408.63 A C PASS 0/1 336 None None None 0.19629 0.19630 None None None None None None RUVBL1|0.805815825|5.67%
View 20160-01-01_s14-kopie 3 rs68118584,rs10574960
dbSNP Clinvar
127799835 3670.34 TAGAG T R8 0/1 133 None None None 0.19709 0.19710 None None None None None None RUVBL1|0.805815825|5.67%
View 20160-01-01_s14-kopie 3 rs1044843
dbSNP Clinvar
127783698 1682.66 A T PASS 0/1 181 None None None 0.20068 0.20070 0.25142 None None None None None None SEC61A1|0.243049508|32.19%,RUVBL1|0.805815825|5.67%
View 20160-01-01_s14-kopie 3 rs13064828
dbSNP Clinvar
126142496 2494.76 T C PASS 0/1 229 None None None 0.30292 0.30290 0.33823 None None None None None None CCDC37|0.004773865|86.13%
View 20160-01-01_s14-kopie 3 rs142532946
dbSNP Clinvar
126139084 4071.17 CG C PASS 0/1 262 None None None 0.07109 0.07109 0.07524 None None None None None None CCDC37|0.004773865|86.13%
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