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

TAF6,
TAF6 Alazami-Yuan syndrome, 617126 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 45
Number of Genes: 3

Export to: CSV

JSRP1

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 23 recalibrated filtered postcgp gqfiltered 19 . 2255337 23480.98 A G PASS 1/1 38 START_GAINED LOW -0.18 None None None None None None None

SRD5A1

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 23 recalibrated filtered postcgp gqfiltered 5 . 6633666 14048.88 C G PASS 1/1 148 START_GAINED LOW None None None None None None None

TAF6

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 23 recalibrated filtered postcgp gqfiltered 7 . 99717363 84310.72 A G PASS 1/1 172 START_GAINED LOW 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 23 recalibrated filtered postcgp gqfiltered 19 . 49128822 101605.09 C A PASS 0/1 118 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs782519227
dbSNP
42348328 2941.95 G A PASS 0/1 329 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 18197803 9269.61 A C,* PASS 0/2 2 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 14049114 20102.26 C T PASS 0/1 85 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 3801655 23.53 G A PASS 0/1 7 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1491172 661.6 T G PASS 0/1 33 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 7117783 4142.14 A G PASS 1/1 41 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 6511474 2113.94 C T PASS 1/1 27 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 rs1000929
dbSNP
4005122 596.14 T C PASS 0/1 54 START_GAINED LOW 0.21985 0.21980 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 18 . 12094007 1239.17 C T PASS 0/1 14 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 7387502 7323.17 T C PASS 0/1 49 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 30007179 32895.23 C T PASS 0/1 119 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 3493526 2022.21 C T PASS 0/1 161 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 89631593 2337.2 C T PASS 0/1 58 START_GAINED LOW 1.33 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104095661 43338.15 T C PASS 1/1 126 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 105769791 10501.23 T A PASS 0/1 104 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 123214973 54061.06 A G PASS 1/1 26 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 113266113 785.63 C T PASS 0/1 65 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 6960263 3374.75 G C,A PASS 0/1 21 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 10 . 5762568 129880.67 G A PASS 1/1 21 START_GAINED LOW 0.72 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 27529668 334.88 C T PASS 0/1 44 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 19230741 505.28 C T PASS 1/1 11 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 16253103 601.44 G C PASS 0/1 47 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 14693272 212.56 G A PASS 0/1 13 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs16923189
dbSNP
5510644 439.05 A G PASS 0/1 41 START_GAINED LOW 0.28874 0.28870 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs34881325
dbSNP
2622134 1623.09 C T PASS 0/1 39 START_GAINED LOW 0.30990 0.30990 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 32121365 5457.36 G T PASS 0/1 47 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 31633074 4749.15 G T PASS 0/1 33 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 26458297 2069.92 C G PASS 1/1 5 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 10694955 276.63 G A PASS 0/1 25 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 6 . 18387584 3829.41 A C PASS 1/1 100 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 177631823 900.63 C T PASS 0/1 104 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 1225572 172856.79 C T PASS 1/1 87 START_GAINED LOW -0.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 9783641 4741.25 G T PASS 1/1 14 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 122927981 17942.86 A G PASS 0/1 57 START_GAINED LOW 1.11 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 3147217 9998.96 A C PASS 0/1 34 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs4854300
dbSNP
264895 66393.88 G C PASS 1/1 61 START_GAINED LOW 0.99900 0.99900 0.00066 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 153348105 7615.07 T C PASS 0/1 15 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 39052706 127927.07 C A PASS 1/1 60 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 117113654 6365.32 A G PASS 0/1 14 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 22735202 36739.29 C T PASS 1/1 33 START_GAINED LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 55987971 27621.62 C T PASS 0/1 37 START_GAINED LOW None None None None None None None