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

PTCH1, TSC1,
PTCH1 Holoprosencephaly 7, 610828 (3)
Basal cell nevus syndrome, 109400 (3)
Basal cell carcinoma, somatic, 605462 (3)
TSC1 Tuberous sclerosis-1, 191100 (3)
Lymphangioleiomyomatosis, 606690 (3)

Genes at Clinical Genomics Database

PTCH1, TSC1,
PTCH1 Basal cell nevus syndrome
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 2

Export to: CSV

PTCH1

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 pc751_s1 9 rs1805155
dbSNP
98238379 791.4 A G PASS 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.11162 0.11160 0.13094 None None None None None None None

TSC1

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 pc751_s1 9 rs4962081
dbSNP
135772717 2197.39 G A PASS 0/1 147 SYNONYMOUS_CODING LOW SILENT 0.06210 0.06210 0.08481 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 pc751_s1 9 rs965513
dbSNP
100556109 1658.85 A G PASS 1/1 71 None None None 0.79972 0.79970 None None None None None None None
View pc751_s1 9 rs4977756
dbSNP
22068652 2157.19 G A PASS 1/1 82 None None None 0.71166 0.71170 None None None None None None None
View pc751_s1 9 rs1011970
dbSNP
22062134 926.26 G T PASS 0/1 119 None None None 0.24720 0.24720 None None None None None None None
View pc751_s1 9 rs2157719
dbSNP
22033366 1315.39 C T PASS 1/1 53 None None None 0.81250 0.81250 None None None None None None None
View pc751_s1 9 rs7023329
dbSNP
21816528 2363.94 A G PASS 1/1 94 None None None 0.44988 0.44990 None None None None None None None
View pc751_s1 9 rs3814113
dbSNP
16915021 990.25 T C PASS 0/1 99 None None None 0.44389 0.44390 None None None None None None None
View pc751_s1 9 rs755383
dbSNP
863635 2595.8 C T PASS 1/1 101 None None None 0.54074 0.54070 None None None None None None None
View pc751_s1 9 rs865686
dbSNP
110888478 1347.86 G T PASS 0/1 97 None None None 0.70807 0.70810 None None None None None None None