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INDIVIDUALS:

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 GROUPS:

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GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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OMIM:
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MUTATION TYPE:
 CHR:

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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 5

+ Genes associated with diseases 1

Genes at Omim

VEGFC,
VEGFC Lymphatic malformation 4, 615907 (3)

Genes at Clinical Genomics Database

VEGFC,
VEGFC Lymphedema, hereditary, ID

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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CDKN2AIP
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 jp5186_chip 4 rs147291711,rs10533201
dbSNP Clinvar 		184367558 0.0 TCTG T PASS 1/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.36302 0.36300 0.44257 None None None None None None CDKN2AIP|0.330846328|25.44%

KLRF1
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 jp5186_chip 12 rs33911869,rs60498737,rs543781017
dbSNP Clinvar 		9994445 0.0 GTGT G PASS 1/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.99421 0.99420 None None None None None None KLRF1|0.004177647|86.78%

PTPRZ1
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 jp5186_chip 7 rs35947407
dbSNP Clinvar 		121653374 0.0 GTGA G PASS 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.47065 0.47060 None None None None None None PTPRZ1|0.370619517|22.66%

SLC22A1
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 jp5186_chip 6 rs202220802,rs771338559,rs72552763
dbSNP Clinvar 		160560880 0.0 CATG C PASS 0/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.11821 0.11820 None None None None None None SLC22A1|0.017246793|75.71%

VEGFC
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 jp5186_chip 4 rs5864401,rs3062984,rs397710947
dbSNP Clinvar 		177605081 0.0 CTCA C PASS 1/1 0 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.99701 0.99700 0.00436 None None None None None None VEGFC|0.797301973|5.92%
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