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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 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: 104
Number of Genes: 2

Export to: CSV

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 tz1 16 rs11278302,rs397761749
dbSNP Clinvar
88780634 7038.73 AG... A . 1/1 159 MOTIF[MA0162.1:Egr1] LOW None 0.77376 0.77380 None None None None None None CTU2|0.007426883|83.12%

SYNPO

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 tz1 5 rs769259449
dbSNP Clinvar
150036304 135.94 AC... A . 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SYNPO|0.104871982|50.26%
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 tz1 4 rs3806733
dbSNP Clinvar
77069679 1926.77 G T . 0/1 196 MOTIF[MA0162.1:Egr1] MODIFIER None 0.16574 0.16570 None None None None None None None
View tz1 5 rs2591464
dbSNP Clinvar
180288455 221.84 G C . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None 0.82089 0.82090 None None None None None None None
View tz1 7 rs77360178,rs79070614
dbSNP Clinvar
4777070 309.73 CGT C . 0/1 22 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FOXK1|0.056151598|60.88%
View tz1 8 rs4925829
dbSNP Clinvar
145739205 47.74 G A . 1/1 2 MOTIF[MA0162.1:Egr1] LOW None None None None None None None RECQL4|0.005456729|85.27%
View tz1 9 rs796534310
dbSNP Clinvar
66458572 49.77 C T . 0/1 19 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 9 . 68408622 52.77 C A . 0/1 3 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 9 rs75584606
dbSNP Clinvar
68726227 85.77 C T . 0/1 22 MOTIF[MA0162.1:Egr1] LOW None 0.00020 0.00020 None None None None None None None
View tz1 9 rs79676377
dbSNP Clinvar
68726234 566.77 A G . 0/1 19 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 10 rs145248506
dbSNP Clinvar
6205643 40.73 AC... A . 0/1 4 MOTIF[MA0162.1:Egr1] LOW None 0.25519 0.25520 None None None None None None PFKFB3|0.234155897|32.99%
View tz1 11 rs490972
dbSNP Clinvar
66079786 62.74 G A . 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.50559 0.50560 None None None None None None None
View tz1 11 rs11020196
dbSNP Clinvar
92931056 766.77 G T . 0/1 35 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View tz1 11 rs11020197
dbSNP Clinvar
92931057 766.77 C T . 0/1 34 MOTIF[MA0162.1:Egr1] LOW None 0.26478 0.26480 None None None None None None SLC36A4|0.196611558|37.09%
View tz1 12 rs142252797
dbSNP Clinvar
42632275 232.8 G GG... . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PPHLN1|0.347482607|24.32%
View tz1 13 rs56865872
dbSNP Clinvar
67804735 30.71 T TG . 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.70268 0.70270 None None None None None None None
View tz1 16 rs1386092
dbSNP Clinvar
4675116 2951.77 G T . 1/1 110 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View tz1 16 rs514970
dbSNP Clinvar
21531473 5412.77 G A . 0/1 735 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 17 rs568207694
dbSNP Clinvar
44849126 53.7 CC... C . 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.97005 0.97000 None None None None None None WNT3|0.546502436|13.89%
View tz1 17 rs1123339
dbSNP Clinvar
47866532 84.77 G A . 0/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.10224 0.10220 None None None None None None FAM117A|0.217342215|34.68%,KAT7|0.481519965|16.7%
View tz1 17 . 71188971 821.73 GC... G . 1/1 18 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 17 . 76124879 43.82 CGGG C . 0/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TMC6|0.012286436|79.04%
View tz1 18 rs62077521
dbSNP Clinvar
3012804 71.03 A C . 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None LPIN2|0.184144576|38.45%
View tz1 19 rs112570276
dbSNP Clinvar
1863628 602.77 A C . 1/1 23 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None None
View tz1 19 rs11667582
dbSNP Clinvar
46367703 986.77 T C . 0/1 98 MOTIF[MA0162.1:Egr1] LOW None 0.14557 0.14560 0.12085 None None None None None None FOXA3|0.118418545|47.67%
View tz1 21 rs11375188
dbSNP Clinvar
34915849 298.74 T TC . 1/1 9 MOTIF[MA0162.1:Egr1] LOW None 1.00000 1.00000 None None None None None None SON|0.888046632|3.75%
View tz1 21 rs559419582
dbSNP Clinvar
40685566 261.77 C G . 0/1 22 MOTIF[MA0162.1:Egr1] LOW None 0.00419 0.00419 None None None None None None BRWD1|0.163713366|41.06%
View tz1 3 rs968588
dbSNP Clinvar
52489564 144.8 A T . 1/1 7 MOTIF[MA0162.1:Egr1] MODIFIER None 0.97125 0.97120 None None None None None None NISCH|0.147521349|43.38%
View tz1 22 rs62218641
dbSNP Clinvar
20379008 100.77 G A . 0/1 34 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 1 rs113776765
dbSNP Clinvar
6321156 189.94 G A . 0/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.55911 0.55910 None None None None None None None
View tz1 1 rs6426021
dbSNP Clinvar
37979933 66.1 A G . 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 0.42592 0.42590 None None None None None None MEAF6|0.379470648|22.1%
View tz1 1 rs6593957
dbSNP Clinvar
205600653 50.28 C T . 1/1 3 MOTIF[MA0162.1:Egr1] LOW None 0.41174 0.41170 None None None None None None ELK4|0.147760515|43.34%
View tz1 2 . 42275077 133.0 CGGG C . 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 2 rs141335595
dbSNP Clinvar
42396470 48.77 G C . 0/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 2 rs184336391
dbSNP Clinvar
68479723 61.77 G A . 0/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PPP3R1|0.920628197|2.96%
View tz1 2 rs10175194
dbSNP Clinvar
234074788 87.77 C T . 0/1 7 MOTIF[MA0162.1:Egr1] LOW None 0.25479 0.25480 None None None None None None INPP5D|0.181614367|38.84%
View tz1 2 rs112131411
dbSNP Clinvar
239007222 62.74 C A . 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 0.49621 0.49620 None None None None None None SCLY|0.013575534|78.15%
View tz1 5 . 443344 992.73 GG... G,... . 1/2 26 MOTIF[MA0162.1:Egr1] LOW None None None None None None None EXOC3|0.113521181|48.58%
View tz1 6 rs1322816
dbSNP Clinvar
109703727 288.77 C A . 0/1 24 MOTIF[MA0162.1:Egr1] MODIFIER None 0.31330 0.31330 None None None None None None CD164|0.021636554|73.38%
View tz1 6 rs1561679
dbSNP Clinvar
158980997 511.77 G C . 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.64816 0.64820 None None None None None None TMEM181|0.035547858|67.29%
View tz1 9 rs67294455
dbSNP Clinvar
37422521 159.87 CA C . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None 0.40256 0.40260 None None None None None None None
View tz1 9 . 69065256 195.9 C T . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 9 rs796928871
dbSNP Clinvar
69065259 195.9 A G . 1/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 9 . 69065260 186.87 C CG . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 10 rs780962014,rs57069965
dbSNP Clinvar
71168620 651.73 GC... G . 1/1 18 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TACR2|0.074747696|56.35%
View tz1 11 rs2786801
dbSNP Clinvar
32914791 199.78 G C . 1/1 9 MOTIF[MA0162.1:Egr1] LOW None None None None None None None QSER1|0.186112132|38.25%
View tz1 11 rs2165163
dbSNP Clinvar
74660143 30.77 G C . 0/1 4 MOTIF[MA0162.1:Egr1] LOW None 0.26877 0.26880 None None None None None None XRRA1|0.047161728|63.53%
View tz1 12 rs111989596
dbSNP Clinvar
48744756 108.9 G A . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None 0.16094 0.16090 None None None None None None ZNF641|0.122107292|47.1%
View tz1 12 rs34187551
dbSNP Clinvar
104235229 1077.77 C G . 0/1 61 MOTIF[MA0162.1:Egr1] MODIFIER None 0.37620 0.37620 None None None None None None None
View tz1 16 rs2235632
dbSNP Clinvar
1393020 665.77 G A . 0/1 55 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View tz1 16 rs181952928
dbSNP Clinvar
3054616 421.77 T A . 1/1 10 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99621 0.99620 None None None None None None None
View tz1 17 rs139223575
dbSNP Clinvar
7123240 3652.73 T TG... . 0/1 247 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.46790 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View tz1 17 rs148208746
dbSNP Clinvar
18684411 469.77 C T . 0/1 42 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TVP23B|0.042636749|64.91%
View tz1 17 rs113622932
dbSNP Clinvar
81009136 46.28 G T . 1/1 3 MOTIF[MA0162.1:Egr1] MODIFIER None 0.43431 0.43430 None None None None None None B3GNTL1|0.011137192|79.94%
View tz1 19 rs1004323
dbSNP Clinvar
3643093 253.77 G A . 0/1 26 MOTIF[MA0162.1:Egr1] MODIFIER None 0.64637 0.64640 None None None None None None PIP5K1C|0.05958372|59.99%
View tz1 19 rs10419483
dbSNP Clinvar
13208737 119.84 A T . 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99940 0.99940 None None None None None None NFIX|0.983719259|1.34%
View tz1 20 . 10015547 752.73 GG... G,... . 1/2 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ANKEF1|0.06517726|58.59%
View tz1 20 rs13041103
dbSNP Clinvar
61982496 612.77 T C . 1/1 17 MOTIF[MA0162.1:Egr1] MODIFIER None 0.62360 0.62360 None None None None None None CHRNA4|0.164276334|40.99%
View tz1 20 rs8123996
dbSNP Clinvar
61982561 241.84 C T . 1/1 6 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CHRNA4|0.164276334|40.99%
View tz1 20 rs8115455
dbSNP Clinvar
61982563 241.84 T C . 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None CHRNA4|0.164276334|40.99%
View tz1 22 . 21057458 739.77 G A . 0/1 123 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 22 rs62231121
dbSNP Clinvar
45665141 43.77 A G . 0/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 22 rs62231122
dbSNP Clinvar
45665147 43.77 A G . 0/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 22 rs9615096
dbSNP Clinvar
45665159 141.03 G A . 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 22 rs372664580
dbSNP Clinvar
45665165 141.03 G A . 1/1 4 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 1 rs72258841,rs878921521,rs796157570,rs796087486
dbSNP Clinvar
40840268 312.73 CGT C . 0/1 32 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View tz1 1 rs562939112
dbSNP Clinvar
40840274 58.77 T C . 0/1 32 MOTIF[MA0162.1:Egr1] MODIFIER None 0.14257 0.14260 None None None None None None SMAP2|0.44905213|18.19%
View tz1 1 rs1890041
dbSNP Clinvar
146714281 148.77 C G . 0/1 14 MOTIF[MA0162.1:Egr1] LOW None 0.28355 0.28350 None None None None None None FMO5|0.073150574|56.76%
View tz1 1 rs2295624
dbSNP Clinvar
229644157 421.77 G T . 0/1 31 MOTIF[MA0162.1:Egr1] MODIFIER None 0.22784 0.22780 None None None None None None None
View tz1 2 rs182702118
dbSNP Clinvar
112812576 208.81 G C . 1/1 10 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 2 rs34128716
dbSNP Clinvar
112812856 89.77 C G . 0/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.19189 0.19190 None None None None None None TMEM87B|0.108271211|49.54%
View tz1 2 rs1823715
dbSNP Clinvar
169312649 98.03 T C . 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99281 0.99280 None None None None None None CERS6|0.366731817|22.98%
View tz1 2 . 179315913 250.73 GT G . 0/1 37 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PRKRA|0.503865125|15.66%
View tz1 2 . 179315916 169.73 G GT... . 0/1 34 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PRKRA|0.503865125|15.66%
View tz1 2 . 179315918 130.73 G GA... . 0/1 28 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PRKRA|0.503865125|15.66%
View tz1 2 rs524012
dbSNP Clinvar
219433273 104.84 T G . 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None 0.66274 0.66270 None None None None None None None
View tz1 3 rs13082210
dbSNP Clinvar
73045888 205.77 G A . 0/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.18071 0.18070 None None None None None None GXYLT2|0.227761838|33.54%
View tz1 4 rs4974623
dbSNP Clinvar
1404415 454.77 A G . 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.47943 0.47940 None None None None None None None
View tz1 4 rs74551967
dbSNP Clinvar
190862288 70.77 A G . 0/1 27 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View tz1 6 rs2209156
dbSNP Clinvar
99963966 218.77 C G . 1/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.55731 0.55730 None None None None None None USP45|0.134063586|45.27%
View tz1 8 rs149986288
dbSNP Clinvar
1048613 30.77 G A . 0/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None 0.14736 0.14740 None None None None None None None
View tz1 9 rs7860124
dbSNP Clinvar
71788949 33.77 C A . 0/1 7 MOTIF[MA0162.1:Egr1] LOW None 0.44070 0.44070 None None None None None None TJP2|0.24805836|31.7%
View tz1 10 rs12247015
dbSNP Clinvar
60145079 327.77 A G . 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.44529 0.44530 None None None None None None TFAM|0.115164564|48.27%
View tz1 11 rs72384025,rs145302006,rs58032861
dbSNP Clinvar
73309539 53.7 CCACA C . 1/1 2 MOTIF[MA0162.1:Egr1] LOW None 0.92292 0.92290 None None None None None None None
View tz1 12 rs879958521
dbSNP Clinvar
74287 86.77 T C . 0/1 8 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 13 rs510183
dbSNP Clinvar
23733829 108.9 C G . 1/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99661 0.99660 None None None None None None None
View tz1 16 rs1236076
dbSNP Clinvar
3054710 145.9 G C . 1/1 5 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None None
View tz1 16 rs12927543
dbSNP Clinvar
27325023 566.77 G A . 1/1 22 MOTIF[MA0162.1:Egr1] MODIFIER None 0.91813 0.91810 None None None None None None IL4R|0.005006401|85.8%
View tz1 16 rs4985395
dbSNP Clinvar
70148042 94.03 G C . 1/1 4 MOTIF[MA0162.1:Egr1] LOW None 0.33626 0.33630 None None None None None None PDPR|0.230085015|33.36%
View tz1 16 rs1349756
dbSNP Clinvar
81040492 156.8 T C . 1/1 7 MOTIF[MA0162.1:Egr1] MODIFIER None 0.94868 0.94870 None None None None None None CMC2|0.269584556|29.9%,CENPN|0.20658682|35.94%
View tz1 16 rs71390484
dbSNP Clinvar
84651757 277.77 G C . 1/1 11 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View tz1 16 rs7191439
dbSNP Clinvar
88780685 2179.77 C T . 1/1 79 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View tz1 17 rs4794799
dbSNP Clinvar
37213252 1054.77 T C . 0/1 79 MOTIF[MA0162.1:Egr1] MODIFIER None 0.53634 0.53630 None None None None None None None
View tz1 18 rs139314847
dbSNP Clinvar
6729591 126.0 A AC... . 1/1 3 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View tz1 18 rs9952181
dbSNP Clinvar
77794410 71.77 C T . 0/1 7 MOTIF[MA0162.1:Egr1] LOW None 0.20447 0.20450 None None None None None None RBFA|0.002028782|90.91%
View tz1 19 rs57122454
dbSNP Clinvar
7927465 141.77 G C . 0/1 16 MOTIF[MA0162.1:Egr1] MODIFIER None 0.43211 0.43210 0.24292 None None None None None None EVI5L|0.086789363|53.81%
View tz1 19 rs201974585,rs376479030
dbSNP Clinvar
17535867 268.73 CC... C . 0/1 17 MOTIF[MA0162.1:Egr1] LOW None 0.07879 None None None None None None MVB12A|0.023768005|72.31%
View tz1 19 rs67621412
dbSNP Clinvar
52800516 1869.77 C A . 0/1 180 MOTIF[MA0162.1:Egr1] LOW None 0.29173 0.29170 None None None None None None ZNF480|0.000598976|97.95%
View tz1 20 rs141919196,rs74264393
dbSNP Clinvar
61425671 817.73 GG... G . 1/1 19 MOTIF[MA0162.1:Egr1] LOW None 0.56190 0.56190 None None None None None None None
View tz1 21 rs575874196
dbSNP Clinvar
46975073 185.9 G C . 1/1 5 MOTIF[MA0162.1:Egr1] LOW None 0.78235 0.78230 None None None None None None None