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

MYC, VPS37A,
MYC Burkitt lymphoma, somatic, 113970 (3)
VPS37A Spastic paraplegia 53, autosomal recessive, 614898 (3)

Genes at Clinical Genomics Database

VPS37A,
VPS37A Spastic paraplegia 53, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 237
Number of Genes: 5

Export to: CSV

DOCK5

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 dels 8 . 25209165 4.0 G <DEL> PASS 0|1 0 None None None None None None None None None DOCK5|0.411645611|20.08%

MYC

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 dels 8 . 128738982 2.0 A <DEL> PASS 1|0 0 EXON_DELETED HIGH None None None None None None None None

SLA

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 dels 8 . 134070687 5.0 T <DEL> PASS 0|1 0 EXON_DELETED+SPLICE_SITE_REGION HIGH None None None None None None None TG|0.245746493|31.95%,SLA|0.068585899|57.82%

TRIM35

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 dels 8 . 27147517 54.0 A <DEL> PASS 0/1 0 None None None None None None None None None TRIM35|0.104192485|50.38%

VPS37A

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 dels 8 . 17104698 61.0 T <DEL> PASS 0/1 0 START_LOST+CODON_DELETION+SPLICE_SITE_REGION HIGH None None None None None None None VPS37A|0.147620208|43.37%
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 dels 8 . 1375202 3.0 A <DEL> PASS 0|1 0 None None None None None None None None None None
View dels 8 . 1409116 59.0 G <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 1442191 2.0 C C[... PASS 1|0 0 FEATURE_FUSION LOW None None None None None None None None
View dels 8 . 1442526 2.0 T ]c... PASS 1|0 0 FEATURE_FUSION LOW None None None None None None None None
View dels 8 . 1521215 3.0 A <DEL> PASS 1|0 0 None None None None None None None None None DLGAP2|0.064995434|58.64%
View dels 8 . 1785317 16.0 C <DEL> PASS 0/1 0 None None None None None None None None None ARHGEF10|0.010635325|80.42%
View dels 8 . 1798679 28.0 G <DEL> PASS 1|0 0 None None None None None None None None None ARHGEF10|0.010635325|80.42%
View dels 8 . 1888223 40.0 C <DEL> PASS 0/1 0 None None None None None None None None None ARHGEF10|0.010635325|80.42%
View dels 8 . 1888964 4.0 G <DEL> PASS 1|0 0 None None None None None None None None None ARHGEF10|0.010635325|80.42%
View dels 8 . 1953183 55.0 A <DEL> PASS 1|1 0 None None None None None None None None None KBTBD11|0.015699066|76.64%
View dels 8 . 1969605 54.0 A <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 2085550 4.0 T <DEL> PASS 0|1 0 None None None None None None None None None MYOM2|0.036862346|66.84%
View dels 8 . 2882266 24.0 A <DEL> PASS 0/1 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 3723962 26.0 T <DEL> PASS 1|0 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 3795272 4.0 A <DEL> PASS 1|0 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 4137362 2.0 C <DEL> PASS 0|1 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 4265363 2.0 T <DEL> PASS 0|1 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 4364528 108.0 T <DEL> PASS 1|0 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 4486123 78.0 C <DEL> PASS 1|1 0 None None None None None None None None None CSMD1|0.119480951|47.53%
View dels 8 . 5083702 86.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 5887328 37.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 5890655 70.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 6113444 45.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 6898719 10.0 T <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 6933352 63.0 C <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 7108121 2.0 A <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 8084534 2.0 T <DEL> PASS 0|1 0 MOTIF_DELETED LOW None None None None None None None None
View dels 8 . 8387558 37.0 T <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 8528546 2.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 9256398 20.0 C <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 9814713 15.0 T <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 9831110 39.0 A <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 11388054 2.0 A <DEL> PASS 1|0 0 None None None None None None None None None BLK|0.095762795|51.98%
View dels 8 . 12375976 2.0 T <DEL> PASS 0|1 0 None None None None None None None None None None
View dels 8 . 12671197 5.0 G <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 13736956 67.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 13920551 88.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 13936494 84.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 15143758 92.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 15860180 4.0 T <DEL> PASS 0|1 0 None None None None None None None None None None
View dels 8 . 16139754 88.0 A <DEL> PASS 1|0 0 None None None None None None None None None MSR1|0.018763977|74.83%
View dels 8 . 16343802 6.0 T <DEL> PASS 1|0 0 None None None None None None None None None MSR1|0.018763977|74.83%
View dels 8 . 16404549 4.0 A <DEL> PASS 1|0 0 None None None None None None None None None MSR1|0.018763977|74.83%
View dels 8 . 16689240 46.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 16776696 54.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 17199569 33.0 G <DEL> PASS 1|1 0 None None None None None None None None None MTMR7|0.118681657|47.65%
View dels 8 . 17408093 49.0 C <DEL> PASS 0/1 0 None None None None None None None None None SLC7A2|0.046613784|63.7%
View dels 8 . 17875482 43.0 C <DEL> PASS 1|1 0 None None None None None None None None None PCM1|0.335813114|25.09%
View dels 8 . 18594136 51.0 T <DEL> PASS 1|1 0 None None None None None None None None None PSD3|0.135347498|45.05%
View dels 8 . 18597102 139.0 T <DEL> PASS 0/1 0 None None None None None None None None None PSD3|0.135347498|45.05%
View dels 8 . 18618184 3.0 C <DEL> PASS 1|0 0 None None None None None None None None None PSD3|0.135347498|45.05%
View dels 8 . 24464750 62.0 T <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 25469706 62.0 G <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 25773466 77.0 A <DEL> PASS 1|1 0 None None None None None None None None None EBF2|0.910052136|3.24%
View dels 8 . 25900355 3.0 G <DEL> PASS 1|0 0 None None None None None None None None None EBF2|0.910052136|3.24%
View dels 8 . 26002881 62.0 G <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 26213328 66.0 T <DEL> PASS 1|1 0 None None None None None None None None None PPP2R2A|0.846401022|4.71%
View dels 8 . 26568707 22.0 T <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 28278327 6.0 A <DEL> PASS 0/1 0 None None None None None None None None None FBXO16|0.072435052|56.9%
View dels 8 . 28526751 17.0 T <DEL> PASS 0/1 0 None None None None None None None None None EXTL3|0.750894784|7.06%
View dels 8 . 28660866 25.0 T <DEL> PASS 1|0 0 None None None None None None None None None INTS9|0.514474892|15.18%
View dels 8 . 28896385 4.0 G <DEL> PASS 0|1 0 None None None None None None None None None HMBOX1|0.694571346|8.66%
View dels 8 . 30143353 35.0 A <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 30534761 79.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 31713726 124.0 A <DEL> PASS 1|1 0 None None None None None None None None None NRG1|0.996847066|0.68%
View dels 8 . 32302467 13.0 T <DEL> PASS 1|0 0 None None None None None None None None None NRG1|0.996847066|0.68%
View dels 8 . 34528515 43.0 A <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 34568671 52.0 T <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 36604264 14.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 37193362 64.0 T <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 39696269 18.0 A <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 39907796 68.0 T <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 40118543 59.0 C <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 40917120 4.0 A <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 41421810 84.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 41637130 35.0 T <DEL> PASS 0/1 0 None None None None None None None None None ANK1|0.956309863|2.07%
View dels 8 . 41827735 21.0 C <DEL> PASS 0/1 0 None None None None None None None None None KAT6A|0.433949125|19%
View dels 8 . 42327798 12.0 T <DEL> PASS 1|0 0 None None None None None None None None None SLC20A2|0.294477803|28.09%
View dels 8 . 42332973 7.0 T <DEL> PASS 1|1 0 MOTIF_DELETED LOW None None None None None None None SLC20A2|0.294477803|28.09%
View dels 8 . 42520422 7.0 A <DEL> PASS 0|1 0 None None None None None None None None None None
View dels 8 . 42730764 2.0 A <DEL> PASS 1|0 0 None None None None None None None None None RNF170|0.497736085|15.93%
View dels 8 . 42766506 43.0 A <DEL> PASS 0/1 0 None None None None None None None None None HOOK3|0.362513826|23.26%
View dels 8 . 42858176 3.0 G <DEL> PASS 1|0 0 None None None None None None None None None HOOK3|0.362513826|23.26%
View dels 8 . 43245273 31.0 A <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 43599256 25.0 A <DEL> PASS 0/1 0 None None None None None None None None None None
View dels 8 . 43637372 59.0 C <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 43907471 2.0 T <DEL> PASS 0|1 0 None None None None None None None None None None
View dels 8 . 46080003 3.0 A <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 46469686 108.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 46494224 117.0 A <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 46968608 61.0 T <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 48414906 27.0 A <DEL> PASS 1|1 0 None None None None None None None None None SPIDR|0.012374625|78.98%
View dels 8 . 49742696 2.0 A <DEL> PASS 1|0 0 None None None None None None None None None None
View dels 8 . 50462158 6.0 A <DEL> PASS 1|1 0 None None None None None None None None None None
View dels 8 . 50529913 73.0 T <DEL> PASS 1|1 0 None None None None None None None None None None