SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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

MYH11, NBAS, ZNF513,
MYH11 Aortic aneurysm, familial thoracic 4, 132900 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
ZNF513 ?Retinitis pigmentosa 58, 613617 (3)

Genes at Clinical Genomics Database

MYH11, NBAS, ZNF513,
MYH11 Aortic aneurysm, familial thoracic 4
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
ZNF513 Retinitis pigmentosa 58

Genes at HGMD

Summary

Number of Variants: 36
Number of Genes: 17

Export to: CSV
  • Page 1 of 1

ACSM2A

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 tsvc_variants_ionxpress_001-5225 16 . 20476851 58.0286 CT C,CC PASS 0/2 23 FRAME_SHIFT HIGH None None None None None None None ACSM2A|0.005190474|85.6%

BPIFB6

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 tsvc_variants_ionxpress_001-5225 20 . 31627290 116.46 GA G,GG PASS 0/2 44 FRAME_SHIFT HIGH None None None None None None None BPIFB6|0.017668453|75.5%

CTDNEP1

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 tsvc_variants_ionxpress_001-5225 17 . 7154533 95.3084 AG A,AA PASS 0/2 48 FRAME_SHIFT HIGH None None None None None None None CTDNEP1|0.550939801|13.68%

CTXN1

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 tsvc_variants_ionxpress_001-5225 19 . 7990371 32.9303 GGC G,GG PASS 0/2 21 FRAME_SHIFT HIGH None None None None None None None CTXN1|0.137153335|44.85%

GPRIN2

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 tsvc_variants_ionxpress_001-5225 10 . 46999177 714.872 CA C,CC PASS 0/2 299 FRAME_SHIFT HIGH None None None None None None None GPRIN2|0.008107767|82.54%

HLX

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 tsvc_variants_ionxpress_001-5225 1 . 221057738 66.8152 GC G,GG PASS 0/2 46 FRAME_SHIFT HIGH None None None None None None None HLX|0.062131502|59.29%

IGDCC4

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 tsvc_variants_ionxpress_001-5225 15 . 65678310 31.7184 TG GT,T PASS 0/2 18 FRAME_SHIFT HIGH None None None None None None None IGDCC4|0.073589525|56.61%

KCNJ12

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 tsvc_variants_ionxpress_001-5225 17 . 21318951 394.428 CA CG,TG PASS 0/2 363 NON_SYNONYMOUS_CODING MODERATE None None None None None None None KCNJ12|0.437556296|18.82%

MAN2B2

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 tsvc_variants_ionxpress_001-5225 4 . 6594946 95.3319 CA C,CC PASS 0/2 37 FRAME_SHIFT HIGH None None None None None None None MAN2B2|0.006822043|83.66%

MROH5

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 tsvc_variants_ionxpress_001-5225 8 . 142458052 111.024 TA T,TG PASS 0/2 55 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None MROH5|0.004135597|86.82%

MYH11

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 tsvc_variants_ionxpress_001-5225 16 . 15811061 186.792 AC A,AT PASS 0/2 78 FRAME_SHIFT HIGH None None None None None None None NDE1|0.20927018|35.66%,MYH11|0.723905691|7.87%

NBAS

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 tsvc_variants_ionxpress_001-5225 2 rs776797592
dbSNP Clinvar
15542412 140.709 AT AA,A PASS 0/2 30 FRAME_SHIFT HIGH None 0.00008 None None None None None None NBAS|0.065334691|58.54%

PDE4DIP

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 tsvc_variants_ionxpress_001-5225 1 . 144854597 432.297 TC CC,CT PASS 0/2 114 NON_SYNONYMOUS_CODING MODERATE None 0.52 0.00 None None None None None None PDE4DIP|0.07469644|56.36%

PSMC3

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 tsvc_variants_ionxpress_001-5225 11 . 47444191 142.174 GC G,GA PASS 0/2 38 FRAME_SHIFT HIGH None None None None None None None PSMC3|0.844806924|4.76%

UMODL1

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 tsvc_variants_ionxpress_001-5225 21 . 43531808 43.5537 AC A,CC PASS 0/2 27 FRAME_SHIFT HIGH None None None None None None None UMODL1|0.002901681|88.83%

ZNF513

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 tsvc_variants_ionxpress_001-5225 2 . 27601707 37.6614 GGGC G,GGG PASS 0/2 19 FRAME_SHIFT HIGH None None None None None None None ZNF513|0.359338279|23.47%

ZNF609

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 tsvc_variants_ionxpress_001-5225 15 . 64962629 104.492 CA C,CC PASS 0/2 74 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None ZNF609|0.562142849|13.28%
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 tsvc_variants_ionxpress_001-5225 9 . 18928039 51.7255 AT A,GT PASS 0/2 36 None None None None None None None None None SAXO1|0.040768994|65.53%
View tsvc_variants_ionxpress_001-5225 1 . 85020648 52.6517 TC T,TT PASS 0/2 44 None None None None None None None None None CTBS|0.055012918|61.18%
View tsvc_variants_ionxpress_001-5225 1 rs369741574
dbSNP Clinvar
197297539 65.4964 TA T,TT PASS 0/2 31 None None None None None None None None None CRB1|0.045146549|64.18%
View tsvc_variants_ionxpress_001-5225 3 . 178938746 100.666 TAT TA... PASS 0/2 39 None None None None None None None None None PIK3CA|0.99977008|0.26%
View tsvc_variants_ionxpress_001-5225 6 rs76843858
dbSNP Clinvar
30521070 63.4493 CCT CC,C PASS 0/2 70 None None None 0.17452 0.17450 None None None None None None GNL1|0.138642294|44.6%
View tsvc_variants_ionxpress_001-5225 1 . 3545175 76.2101 GT... GT... PASS 0/2 66 None None None None None None None None None TPRG1L|0.090887551|53.06%
View tsvc_variants_ionxpress_001-5225 12 . 53589510 275.933 GA G,GG PASS 0/2 72 None None None None None None None None None ITGB7|0.210185475|35.55%
View tsvc_variants_ionxpress_001-5225 19 . 2097356 21.6071 GGC G,GG PASS 0/2 30 None None None None None None None None None IZUMO4|0.008222805|82.45%
View tsvc_variants_ionxpress_001-5225 11 rs780599730
dbSNP Clinvar
93494877 73.094 AAAG A,AA PASS 0/2 77 None None None None None None None None None TAF1D|0.00414635|86.81%,C11orf54|0.194366317|37.37%
View tsvc_variants_ionxpress_001-5225 14 . 20942743 88.324 GA G,GG PASS 0/2 41 None None None None None None None None None PNP|0.117411825|47.87%
View tsvc_variants_ionxpress_001-5225 6 . 57472315 773.708 AG GA,GG PASS 0/2 167 None None None None None None None None None PRIM2|0.188824743|37.96%
View tsvc_variants_ionxpress_001-5225 19 . 5041315 195.516 GT G,GG PASS 0/2 78 None None None None None None None None None KDM4B|0.036381254|66.98%
View tsvc_variants_ionxpress_001-5225 4 . 79531185 122.612 TC T,TT PASS 0/2 66 None None None None None None None None None ANXA3|0.125731275|46.52%
View tsvc_variants_ionxpress_001-5225 2 rs3830711
dbSNP Clinvar
32362084 25.8572 T TA... PASS 0/2 26 None None None None None None None None None SPAST|0.665186921|9.51%
View tsvc_variants_ionxpress_001-5225 2 . 73675019 49.6494 CTT C,CT PASS 0/2 29 None None None None None None None None None ALMS1|0.012791041|78.65%
View tsvc_variants_ionxpress_001-5225 16 . 425297 172.736 CG C,CT PASS 0/2 93 None None None None None None None None None TMEM8A|0.011156348|79.9%
View tsvc_variants_ionxpress_001-5225 8 . 113662582 352.953 GA G,GC PASS 0/2 131 None None None None None None None None None CSMD3|0.744731001|7.23%
View tsvc_variants_ionxpress_001-5225 3 . 74315579 237.511 GC G,GG PASS 0/2 109 None None None None None None None None None CNTN3|0.127011176|46.35%
View tsvc_variants_ionxpress_001-5225 7 . 135378853 211.971 AG A,AA PASS 0/2 95 None None None None None None None None None SLC13A4|0.171079335|40.17%
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