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 at Omim

NIPBL, TCOF1, TERT,
NIPBL Cornelia de Lange syndrome 1, 122470 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
TERT {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)

Genes at Clinical Genomics Database

NIPBL, TCOF1, TERT,
NIPBL Cornelia de Lange syndrome 1
TCOF1 Treacher Collins syndrome 1
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 1

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 3

Export to: CSV
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NIPBL

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 21_s21 genome 5 . 37014787 6.77 T C LowGQX 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None NIPBL|0.918653114|3.01%

TCOF1

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 21_s21 genome 5 rs200577796
dbSNP Clinvar
149756048 64632.15 G C PASS 0/1 4990 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00008 0.07 0.64 None None None None None None TCOF1|0.029215491|69.76%
View 21_s21 genome 5 rs15251
dbSNP Clinvar
149776232 62662.86 C T PASS 0/1 4997 NON_SYNONYMOUS_CODING MODERATE None 0.22404 0.22400 0.21029 0.01 0.45 None None None None None None TCOF1|0.029215491|69.76%

TERT

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 21_s21 genome 5 . 1294771 14.92 A G LowGQX;LowGQ 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.88 None None None None None None None
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 21_s21 genome 5 . 149740815 804.27 C T LowVariantFreq 0/1 352 None None None None None None None None None TCOF1|0.029215491|69.76%
View 21_s21 genome 5 rs62654860
dbSNP Clinvar
37003501 10.43 A G LowGQX;LowGQ 1/1 1 None None None 0.12041 0.12040 0.11816 None None None None None None NIPBL|0.918653114|3.01%
View 21_s21 genome 5 . 37024684 9.26 T C LowGQX 0/1 4 None None None None None None None None None NIPBL|0.918653114|3.01%
View 21_s21 genome 5 . 37014900 3.07 T A LowGQX 0/1 3 None None None None None None None None None NIPBL|0.918653114|3.01%
View 21_s21 genome 5 . 37016315 6.36 A G LowGQX 0/1 3 None None None None None None None None None NIPBL|0.918653114|3.01%
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