+ Filter Options

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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 14
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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 combined sample_70.variant31 1 rs139377135
dbSNP Clinvar 		23886299 36.69 GC G PASS 0/1 17 MOTIF[MA0079.1:SP1] LOW None None None None None None None None
View combined sample_70.variant31 2 rs831526
dbSNP Clinvar 		74153905 3881.89 C T PASS 1/1 202 MOTIF[MA0079.1:SP1] LOW None 0.99521 0.99520 None None None None None None None
View combined sample_70.variant31 2 rs7579996
dbSNP Clinvar 		110371692 2094.13 C A PASS 0/1 247 MOTIF[MA0079.1:SP1] LOW None 0.28075 0.28080 None None None None None None SEPT10|0.098372195|51.47%
View combined sample_70.variant31 12 . 53320125 94.04 A C PASS 0/1 23 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None KRT8|0.548106459|13.83%
View combined sample_70.variant31 12 . 53320130 59.06 A C PASS 0/1 29 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None KRT8|0.548106459|13.83%
View combined sample_70.variant31 15 . 76628966 34.59 G C PASS 0/1 9 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None None
View combined sample_70.variant31 16 rs67832054,rs531735721,rs55733330
dbSNP Clinvar 		53537170 142.9 CG... C,... PASS 1/1 10 MOTIF[MA0079.1:SP1] LOW None None None None None None None AKTIP|0.328844595|25.56%
View combined sample_70.variant31 19 rs2927472
dbSNP Clinvar 		45349369 481.35 T C PASS 1/1 35 MOTIF[MA0079.1:SP1] MODIFIER None 0.82588 0.82590 None None None None None None None
View combined sample_70.variant31 1 rs4233
dbSNP Clinvar 		31907457 1863.63 A C,G PASS 1/1 59 MOTIF[MA0079.1:SP1] LOW None 0.37680 0.37680 None None None None None None SERINC2|0.042418006|64.98%
View combined sample_70.variant31 6 rs150189585,rs761648707,rs766715430,rs16900967
dbSNP Clinvar 		167370686 1386.99 GC... G PASS 0/1 116 MOTIF[MA0079.1:SP1] LOW None 0.65575 0.65580 None None None None None None None
View combined sample_70.variant31 7 rs10261181
dbSNP Clinvar 		24911526 433.4 G A PASS 0/1 48 MOTIF[MA0079.1:SP1] LOW None 0.44549 0.44550 0.27687 None None None None None None OSBPL3|0.180355322|38.99%
View combined sample_70.variant31 14 rs536214873
dbSNP Clinvar 		74960249 1139.3 C T PASS 0/1 54 MOTIF[MA0079.1:SP1] LOW None 0.00180 0.00180 None None None None None None NPC2|0.052443473|61.93%
View combined sample_70.variant31 16 rs71402561
dbSNP Clinvar 		4784204 554.09 AC A PASS 0/1 92 MOTIF[MA0079.1:SP1] LOW None 0.74022 0.74020 None None None None None None ANKS3|0.043782759|64.58%
View combined sample_70.variant31 19 rs550601112,rs3214450
dbSNP Clinvar 		55964546 3411.27 G GC... PASS 1/1 115 MOTIF[MA0079.1:SP1] LOW None 0.00200 0.42430 None None None None None None ISOC2|0.014818901|77.28%
  • Page 1 of 1