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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

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CADD

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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: 13
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 62388010_s7 mvar 62388010_S7.GATK 16 . 88780634 2556.73 AG... AG... PASS 1/1 0 MOTIF[MA0162.1:Egr1] LOW None 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 62388010_s7 mvar 62388010_S7.GATK 16 rs1386092
dbSNP Clinvar 		4675116 2794.77 G T PASS 1/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View 62388010_s7 mvar 62388010_S7.GATK 16 rs7191439
dbSNP Clinvar 		88780685 1310.77 C T PASS 1/1 0 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View 62388010_s7 mvar 62388010_S7.GATK 16 rs758071271
dbSNP Clinvar 		89653540 538.73 CCCT C PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CPNE7|0.016959249|75.88%
View 62388010_s7 mvar 62388010_S7.GATK X rs1473666
dbSNP Clinvar 		7066051 1389.77 A C PASS 1/1 0 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View 62388010_s7 mvar 62388010_S7.GATK X rs5955750
dbSNP Clinvar 		19361961 162.9 G A PASS 1/1 0 MOTIF[MA0162.1:Egr1] MODIFIER None 0.26517 0.26520 None None None None None None None
View 62388010_s7 mvar 62388010_S7.GATK 10 rs3740254
dbSNP Clinvar 		79793551 906.77 A G PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.11382 0.11380 None None None None None None RPS24|0.368470887|22.8%
View 62388010_s7 mvar 62388010_S7.GATK 11 rs11020196
dbSNP Clinvar 		92931056 187.77 G T PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View 62388010_s7 mvar 62388010_S7.GATK 11 rs11020197
dbSNP Clinvar 		92931057 187.77 C T PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View 62388010_s7 mvar 62388010_S7.GATK 16 rs2235632
dbSNP Clinvar 		1393020 462.77 G A PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View 62388010_s7 mvar 62388010_S7.GATK 19 rs11667582
dbSNP Clinvar 		46367703 942.77 T C PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.14557 0.14560 0.12085 None None None None None None FOXA3|0.118418545|47.67%
View 62388010_s7 mvar 62388010_S7.GATK 19 rs67621412
dbSNP Clinvar 		52800516 841.77 C A PASS 1/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.29173 0.29170 None None None None None None ZNF480|0.000598976|97.95%
View 62388010_s7 mvar 62388010_S7.GATK 22 rs7292055
dbSNP Clinvar 		19974654 202.77 G A PASS 0/1 0 MOTIF[MA0162.1:Egr1] LOW None 0.38998 0.39000 None None None None None None ARVCF|0.083030294|54.56%
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