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 GROUPS:

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 CHR:

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FREQUENCIES

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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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 10

+ Genes associated with diseases 6

Genes at Omim

ANK2, FAT4, GRID2, HTT, SPINK2, TLR3,
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
SPINK2 ?Spermatogenic failure 29, 618091 (3)
TLR3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
{HIV1 infection, resistance to}, 609423 (3)

Genes at Clinical Genomics Database

ANK2, FAT4, GRID2, HTT, TLR3,
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
HTT Huntington disease
TLR3 Herpes simplex encephalitis, susceptibility to, 2

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 10

Export to: CSV
  • Page 1 of 1

ANK2
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 tumor_sample brca 4 . 114302763 0.0 C A PASS 0/1 0 None None None 0.16 0.02 None None None None None None ANK2|0.34993042|24.11%

CSN2
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 tumor_sample brca 4 . 70825773 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13 1.00 None None None None None None CSN2|0.001304426|93.89%

FAT4
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 tumor_sample brca 4 . 126412418 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None FAT4|0.071301808|57.14%

GRID2
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 tumor_sample brca 4 . 94031970 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.40 None None None None None None GRID2|0.889185776|3.69%

HTT
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 tumor_sample brca 4 . 3224137 0.0 G A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None HTT|0.732159891|7.59%

MFSD10
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 tumor_sample brca 4 rs147592346
dbSNP Clinvar 		2934188 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.00 1.00 None None None None None None None

SPINK2
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 tumor_sample brca 4 . 57677909 0.0 C G PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.82 None None None None None None SPINK2|0.001578064|92.43%

TLR3
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 tumor_sample brca 4 . 187004407 0.0 G C PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04 0.59 None None None None None None TLR3|0.269915833|29.89%

TMPRSS11E
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 tumor_sample brca 4 . 69334622 0.0 C A PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.01 None None None None None None TMPRSS11E|0.044862422|64.25%

UNC5C
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 tumor_sample brca 4 . 96123917 0.0 C T PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.90 None None None None None None UNC5C|0.689156139|8.83%
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 tumor_sample brca 4 . 166200610 0.0 G C PASS 0/1 0 None None None None None None None None None KLHL2|0.422356195|19.49%
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