+ Filter Options

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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 11

+ Genes associated with diseases 3

Genes at Omim

ERCC6L2, MTTP, SCAPER,
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
MTTP {Metabolic syndrome, protection against}, 605552 (3)
Abetalipoproteinemia, 200100 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, MTTP,
ATP6V1B1 Renal tubular acidosis with deafness
ERCC6L2 Bone marrow failure syndrome 2
MTTP Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

AC110781.3
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 msp09 snp 7 rs3889573
dbSNP Clinvar 		1878377 157.9 A G PASS 1/1 5 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

ATP6V1B1
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 msp09 snp 2 rs11681642
dbSNP Clinvar 		71163086 975.77 T C PASS 1/1 25 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ERCC6L2
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 msp09 snp 9 rs690528
dbSNP Clinvar 		98638288 441.77 A G PASS 0/1 38 START_LOST HIGH None 0.25240 0.25240 0.24126 0.71 0.02 None None None None None None ERCC6L2|0.051614036|62.16%

HAS1
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 msp09 snp 19 rs56166910
dbSNP Clinvar 		52223180 77.77 A G PASS 0/1 17 START_LOST HIGH None 0.44169 0.44170 0.31876 0.12 0.02 None None None None None None HAS1|0.18273667|38.7%

IGLV3-12
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 msp09 snp 22 rs6003299
dbSNP Clinvar 		23114327 2332.77 T C PASS 1/1 56 START_LOST HIGH None 0.60863 0.60860 0.00 0.95 None None None None None None None

MTTP
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 msp09 snp 4 rs11944752
dbSNP Clinvar 		100485255 361.77 G A PASS 0/1 45 START_LOST HIGH None 0.25000 0.25000 0.00 None None None None None None MTTP|0.164689629|40.96%

OR8K1
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 msp09 snp 11 rs1905055
dbSNP Clinvar 		56113516 1233.77 T C PASS 1/1 34 START_LOST HIGH None 0.77995 0.78000 0.32099 0.00 0.02 None None None None None None OR8K1|0.005619396|85.08%

PRAM1
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 msp09 snp 19 rs968502
dbSNP Clinvar 		8567475 140.77 T C PASS 0/1 12 START_LOST HIGH None 0.31190 0.31190 0.28596 1.00 0.00 None None None None None None PRAM1|0.002623515|89.43%

SCAPER
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 msp09 snp 15 rs3812908
dbSNP Clinvar 		77176158 156.77 T C PASS 0/1 21 START_LOST HIGH None 0.41773 0.41770 0.29627 0.15 0.00 None None None None None None SCAPER|0.365657343|23.01%

TMPRSS11A
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 msp09 snp 4 rs977728
dbSNP Clinvar 		68829109 347.77 C T PASS 0/1 20 START_LOST HIGH None 0.20328 0.20330 0.15501 0.09 0.00 None None None None None None TMPRSS11A|0.035872447|67.18%

ZNF211
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 msp09 snp 19 rs9749449
dbSNP Clinvar 		58144715 158.77 A G PASS 0/1 20 START_LOST HIGH None 0.21446 0.21450 0.15526 1.00 0.00 None None None None None None ZNF211|0.001054755|95.15%
  • Page 1 of 1