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

PIEZO2, TUBB6,
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
TUBB6 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)

Genes at Clinical Genomics Database

PIEZO2,
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome

Genes at HGMD

Summary

Number of Variants: 135
Number of Genes: 11

Export to: CSV

ADCYAP1

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 909461 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27 0.08 None None None None None None ADCYAP1|0.147854671|43.32%

CEP76

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 rs747064410
dbSNP Clinvar
12699829 0.0 CT C PASS 0/1 0 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None PSMG2|0.27005668|29.88%,CEP76|0.48698714|16.46%

IMPA2

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 12014325 0.0 C T PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.09 0.00 None None None None None None IMPA2|0.105612211|50.11%

L3MBTL4

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 6171882 0.0 T C PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None L3MBTL4|0.063105699|59.07%

MC5R

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 13826448 0.0 C T PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None MC5R|0.053549563|61.61%

NAPG

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 10548975 0.0 G T PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None NAPG|0.100043566|51.17%

PIEZO2

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 10744186 0.0 T C PASS 0/1 0 SYNONYMOUS_CODING LOW None None None None None None PIEZO2|0.149900896|43.05%

PSMG2

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 12720544 0.0 C CA PASS 0/1 0 FRAME_SHIFT HIGH None None None None None None PSMG2|0.27005668|29.88%

PTPRM

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 7906547 0.0 G A PASS 0/1 0 SYNONYMOUS_CODING LOW SILENT None None None None None None PTPRM|0.746294378|7.19%

TUBB6

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 12325170 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None TUBB6|0.061114418|59.56%

USP14

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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 203145 0.0 A AT PASS 0/1 0 FRAME_SHIFT HIGH None None None None None None USP14|0.853314442|4.57%
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 s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 76379657 0.0 CG C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 75285765 0.0 T C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 74889937 0.0 C T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 74576781 0.0 TG T PASS 0|1 0 None None None None None None None None None ZNF236|0.030995375|68.96%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 74576777 0.0 AC A PASS 0|1 0 None None None None None None None None None ZNF236|0.030995375|68.96%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 74318001 0.0 TA T PASS 0/1 0 None None None None None None None None None LINC00908|0.000543038|98.22%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 72542013 0.0 G A PASS 0/1 0 None None None None None None None None None ZNF407|0.090182117|53.21%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 70642553 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 70086742 0.0 C A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 69087766 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 68700489 0.0 TAA T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 67044740 0.0 A C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63985282 0.0 T C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63960114 0.0 AG A PASS 0|1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63640979 0.0 C A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63563896 0.0 CA... C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63556124 0.0 CTT C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63503685 0.0 G A PASS 0/1 0 None None None None None None None None None CDH7|0.157743367|41.9%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63400514 0.0 G GA PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 63318450 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 62523862 0.0 C T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 62227269 0.0 GT G PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 61545189 0.0 G T PASS 0/1 0 None None None None None None None None None SERPINB2|0.029779536|69.52%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 58535975 0.0 AT... A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 57606571 0.0 CA C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 rs906909442
dbSNP Clinvar
54387065 0.0 G A PASS 0/1 0 None None None None None None None None None WDR7|0.523287964|14.85%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 53339921 0.0 AT A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 51065561 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 51048798 0.0 TAA T PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50984186 0.0 G A PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50921192 0.0 G T PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50912963 0.0 T TA PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50801450 0.0 A G PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50723634 0.0 G A PASS 0|1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 50723629 0.0 G A PASS 0|1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 49992459 0.0 GA G PASS 0/1 0 None None None None None None None None None DCC|0.980899041|1.44%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 49331959 0.0 A C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 49019657 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 48950011 0.0 C G PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 48165096 0.0 TG T PASS 0/1 0 None None None None None None None None None MAPK4|0.132992118|45.47%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 48040713 0.0 TC T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 47247904 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 46577850 0.0 G A PASS 0/1 0 None None None None None None None None None DYM|0.407030878|20.38%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 46560286 0.0 TC T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 46216012 0.0 TG T PASS 0/1 0 None None None None None None None None None CTIF|0.243907719|32.11%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 45739687 0.0 A G PASS 0/1 0 None None None None None None None None None ZBTB7C|0.580247061|12.58%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 45678958 0.0 T C PASS 1|0 0 None None None None None None None None None ZBTB7C|0.580247061|12.58%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 43115539 0.0 GA G PASS 0/1 0 None None None None None None None None None SLC14A2|0.428695813|19.19%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 39335712 0.0 T C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 37254002 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 37173122 0.0 TG T PASS 0|1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 37173120 0.0 TA T PASS 0|1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36885536 0.0 GTT G PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36835394 0.0 CT C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36760848 0.0 T G PASS 0|1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36760845 0.0 G A PASS 0|1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36759055 0.0 T C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36742718 0.0 AT A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36717844 0.0 C T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 36681588 0.0 AT A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 35841860 0.0 CA C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 35337212 0.0 CTT C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 35005574 0.0 G A PASS 0/1 0 None None None None None None None None None CELF4|0.8655122|4.37%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 34815895 0.0 GT G PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 34794345 0.0 CTT C PASS 0/1 0 None None None None None None None None None KIAA1328|0.145244522|43.68%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 32695563 0.0 GAA G PASS 0/1 0 None None None None None None None None None MAPRE2|0.558879739|13.4%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 32287202 0.0 A G PASS 0/1 0 None None None None None None None None None DTNA|0.885849871|3.81%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 32196339 0.0 C T PASS 0/1 0 None None None None None None None None None DTNA|0.885849871|3.81%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 31521252 0.0 CTTT C PASS 0/1 0 None None None None None None None None None NOL4|0.612405612|11.38%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 31498330 0.0 C T PASS 0/1 0 None None None None None None None None None NOL4|0.612405612|11.38%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 27452752 0.0 CT C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 26265146 0.0 CT C PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 80160241 0.0 C T PASS 0/1 0 MODIFIER None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 26179161 0.0 C T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 26140213 0.0 C T PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 24178221 0.0 GAA G PASS 0/1 0 None None None None None None None None None KCTD1|0.654633921|9.92%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 24178205 0.0 TAAA T PASS 0/1 0 None None None None None None None None None KCTD1|0.654633921|9.92%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 24123742 0.0 CTTT C PASS 0/1 0 None None None None None None None None None KCTD1|0.654633921|9.92%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 23943864 0.0 A T PASS 0/1 0 None None None None None None None None None TAF4B|0.120272194|47.41%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 23842590 0.0 GTC G PASS 0/1 0 None None None None None None None None None TAF4B|0.120272194|47.41%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 23544553 0.0 C A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 23531716 0.0 GT G PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 22997624 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 21803895 0.0 T A PASS 0/1 0 None None None None None None None None None OSBPL1A|0.27552184|29.48%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 21663648 0.0 G A PASS 0/1 0 None None None None None None None None None TTC39C|0.18491778|38.37%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 21655162 0.0 C T PASS 0/1 0 None None None None None None None None None TTC39C|0.18491778|38.37%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 21441385 0.0 CT C PASS 0/1 0 None None None None None None None None None LAMA3|0.045252413|64.13%
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 15004375 0.0 G A PASS 0/1 0 None None None None None None None None None None
View s96_cosmic_annovar hg38_multianno hg38_multianno 18 . 14999376 0.0 GCC G PASS 0/1 0 None None None None None None None None None None