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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 5

Genes:
CLDN16, PKD1L2, TRAV19, ZAN, ZNF717,

+ Genes associated with diseases 1

Genes at Omim

CLDN16,
CLDN16 Hypomagnesemia 3, renal, 248250 (3)

Genes at Clinical Genomics Database

CLDN16,
CLDN16 Hypomagnesemia 3, renal

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 5

Export to: CSV
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CLDN16
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 wes_0001 hg19 bwa gatk freebayes combined 3 . 190106071 3657.73 AGGG AG... PASS 0/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None None None None None None None CLDN16|0.053365905|61.68%

PKD1L2
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 wes_0001 hg19 bwa gatk freebayes combined 16 rs386792900
dbSNP Clinvar 		81242148 10962.73 GTTT GT,GC PASS 1/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None 0.02915 0.35967 None None None None None None PKD1L2|0.005531409|85.17%

TRAV19
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 wes_0001 hg19 bwa gatk freebayes combined 14 . 22476137 1024.75 AA... AA... . 0/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None None None None None None None None

ZAN
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 wes_0001 hg19 bwa gatk freebayes combined 7 rs78193191
dbSNP Clinvar 		100371474 1287.77 G A PASS 0/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None 0.44549 0.44550 None None None None None None ZAN|0.002173013|90.5%
View wes_0001 hg19 bwa gatk freebayes combined 7 . 100371474 675.38 GTTT ATTGT . 0/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None 0.44549 0.44550 None None None None None None ZAN|0.002173013|90.5%

ZNF717
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 wes_0001 hg19 bwa gatk freebayes combined 3 . 75790810 480.83 GGTCC GT... . 0/1 0 FRAME_SHIFT+NON_SYNONYMOUS_CODING HIGH None None None None None None None ZNF717|0.000754901|96.97%
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