SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

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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
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Genes at Omim

DEK, ELOVL5, FARS2, SERPINB6,
DEK Leukemia, acute nonlymphocytic (2)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
FARS2 Combined oxidative phosphorylation deficiency 14, 614946 (3)
Spastic paraplegia 77, autosomal recessive, 617046 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)

Genes at Clinical Genomics Database

ELOVL5, FAM65B, FARS2, SERPINB6,
ELOVL5 Spinocerebellar ataxia 39
FAM65B Deafness, autosomal recessive 104
FARS2 Combined oxidative phosphorylation deficiency 14
SERPINB6 Deafness, autosomal recessive 91

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 17

Export to: CSV
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ATF6B

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 selected variants chr6 6 . 32095904 2040.13 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None ATF6B|0.118552355|47.66%

BTN2A2

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 selected variants chr6 6 . 26388444 790.92 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None BTN2A2|0.003176243|88.35%

C6orf229

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 selected variants chr6 6 . 24799050 782.14 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None FAM65B|0.070669833|57.32%

C6orf47

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 selected variants chr6 6 . 31626851 16225.9 T A PASS 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None C6orf47|0.057785703|60.46%

DAXX

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 selected variants chr6 6 . 33288694 9622.16 T C PASS 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None DAXX|0.484012387|16.54%

DEK

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 selected variants chr6 6 rs201160399
dbSNP Clinvar
18258285 5069.16 G A PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None DEK|0.839668154|4.89%

ELOVL5

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 selected variants chr6 6 . 53133990 2366.92 G A PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None ELOVL5|0.228608658|33.49%

FAM65B

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 selected variants chr6 6 . 24835933 5313.9 C A PASS 1/1 0 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None FAM65B|0.070669833|57.32%

FARS2

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 selected variants chr6 6 . 5545421 4061.9 C T PASS 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None FARS2|0.138076128|44.7%

GMPR

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 selected variants chr6 6 . 16238997 249.21 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None GMPR|0.264027636|30.37%

LRRC16A

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 selected variants chr6 6 . 25600740 2982.92 G A PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None LRRC16A|0.106228514|49.94%

NOL7

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 selected variants chr6 6 . 13620645 2302.9 A T PASS 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None NOL7|0.137891067|44.72%

RNF144B

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 selected variants chr6 6 . 18459944 136.13 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None RNF144B|0.133243276|45.41%

RREB1

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 selected variants chr6 6 . 7211851 829.17 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None RREB1|0.126211873|46.42%

SERPINB6

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 selected variants chr6 6 . 2949153 842.92 G A PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None SERPINB6|0.030895679|69%

SNX9

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 selected variants chr6 6 . 158349665 913.95 A T PASS 1/1 0 STOP_GAINED HIGH NONSENSE None None None None None None SNX9|0.169505885|40.37%

TRIM26

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 selected variants chr6 6 . 30153683 4527.92 C T PASS 0/1 0 STOP_GAINED HIGH NONSENSE None None None None None None TRIM26|0.051837141|62.11%
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