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 GROUPS:

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GENE LIST:
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MUTATION TYPE:
 CHR:

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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
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+ Genes 1

Genes:
CTU2,

+ Genes associated with diseases 1

Genes at Omim

CTU2,
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 1

Export to: CSV
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CTU2
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 gird-c1a filtered variants 16 rs11278302,rs397761749
dbSNP Clinvar 		88780634 3068.77 AG... A PASS 1/1 70 MOTIF[MA0162.1:Egr1] LOW None 0.77376 0.77380 None None None None None None CTU2|0.007426883|83.12%
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 gird-c1a filtered variants 1 rs2295624
dbSNP Clinvar 		229644157 182.77 G T PASS 0/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.22784 0.22780 None None None None None None None
View gird-c1a filtered variants 2 rs41281525
dbSNP Clinvar 		62115776 531.77 G A PASS 0/1 46 MOTIF[MA0162.1:Egr1] MODIFIER None 0.14117 0.14120 None None None None None None CCT4|0.816474939|5.4%
View gird-c1a filtered variants 5 rs2591464
dbSNP Clinvar 		180288455 87.28 G C PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None 0.82089 0.82090 None None None None None None None
View gird-c1a filtered variants 11 . 236386 107.28 GC... G PASS 1/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SIRT3|0.04850739|63.11%
View gird-c1a filtered variants 16 rs1386092
dbSNP Clinvar 		4675116 698.77 G T PASS 0/1 39 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View gird-c1a filtered variants 16 rs7191439
dbSNP Clinvar 		88780685 2264.77 C T PASS 1/1 63 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View gird-c1a filtered variants 17 rs139223575
dbSNP Clinvar 		7123240 1291.77 T TG... PASS 0/1 47 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.46790 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View gird-c1a filtered variants 1 rs72258841,rs878921521,rs796157570,rs796087486
dbSNP Clinvar 		40840268 320.77 CGT C PASS 0/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View gird-c1a filtered variants X rs1473666
dbSNP Clinvar 		7066051 400.77 A C PASS 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View gird-c1a filtered variants 2 rs12692386
dbSNP Clinvar 		9695906 1302.77 A G PASS 1/1 35 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60883 0.60880 None None None None None None ADAM17|0.398835803|20.86%
View gird-c1a filtered variants 6 rs1322816
dbSNP Clinvar 		109703727 360.77 C A PASS 0/1 22 MOTIF[MA0162.1:Egr1] MODIFIER None 0.31330 0.31330 None None None None None None CD164|0.021636554|73.38%
View gird-c1a filtered variants 16 rs2235632
dbSNP Clinvar 		1393020 504.77 G A PASS 0/1 31 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View gird-c1a filtered variants 19 rs201974585,rs376479030
dbSNP Clinvar 		17535867 526.77 CC... C PASS 0/1 35 MOTIF[MA0162.1:Egr1] LOW None 0.07879 None None None None None None MVB12A|0.023768005|72.31%
View gird-c1a filtered variants 22 rs62235085
dbSNP Clinvar 		37622999 353.77 C T PASS 1/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.32768 0.32770 None None None None None None RAC2|0.602833016|11.7%
View gird-c1a filtered variants 1 rs562939112
dbSNP Clinvar 		40840274 139.77 T C PASS 0/1 26 MOTIF[MA0162.1:Egr1] MODIFIER None 0.14257 0.14260 None None None None None None SMAP2|0.44905213|18.19%
View gird-c1a filtered variants 4 rs4145517
dbSNP Clinvar 		190862287 48.74 C T PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.26578 0.26580 0.28299 None None None None None None FRG1|0.098149242|51.5%
View gird-c1a filtered variants 10 rs780962014,rs57069965
dbSNP Clinvar 		71168620 159.77 GC... G PASS 0/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TACR2|0.074747696|56.35%
View gird-c1a filtered variants 19 rs67621412
dbSNP Clinvar 		52800516 781.77 C A PASS 0/1 65 MOTIF[MA0162.1:Egr1] LOW None 0.29173 0.29170 None None None None None None ZNF480|0.000598976|97.95%
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