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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
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+ Genes 1

Genes:
PSAPL1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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PSAPL1
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 fam3 AWJ 4 rs60816800
dbSNP Clinvar 		7435058 403.9 C T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.10304 0.10300 0.13155 0.48 0.00 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs4689746
dbSNP Clinvar 		7435379 3762.48 A G PASS 1/1 500 SYNONYMOUS_CODING LOW None 0.98802 0.98800 0.01091 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs61738677
dbSNP Clinvar 		7435486 589.87 G T PASS 0/1 253 NON_SYNONYMOUS_CODING MODERATE None 0.07668 0.07668 0.10032 0.48 0.00 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs6850206
dbSNP Clinvar 		7435721 688.56 C T PASS 0/1 261 NON_SYNONYMOUS_CODING MODERATE None 0.12919 0.12920 0.17162 0.07 0.53 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs61740031
dbSNP Clinvar 		7436073 912.98 C T PASS 0/1 364 SYNONYMOUS_CODING LOW None 0.12720 0.12720 0.17009 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs56402179
dbSNP Clinvar 		7436239 312.5 C T PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.10344 0.10340 0.13974 0.12 0.00 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
View fam3 AWJ 4 rs11548325
dbSNP Clinvar 		7436486 445.15 C A PASS 0/1 252 NON_SYNONYMOUS_CODING MODERATE None 0.20008 0.20010 0.12013 0.56 0.38 None None None None None None SORCS2|0.02979859|69.5%,PSAPL1|0.000892338|96.06%
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