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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 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

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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CADD

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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: 93
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

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 combined sample_49.variant13 16 rs11278302,rs397761749
dbSNP Clinvar
88780634 655.13 AG... A PASS 1/1 59 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 combined sample_49.variant13 1 rs6593957
dbSNP Clinvar
205600653 168.94 C T PASS 1/1 4 MOTIF[MA0162.1:Egr1] LOW None 0.41174 0.41170 None None None None None None ELK4|0.147760515|43.34%
View combined sample_49.variant13 2 rs12692386
dbSNP Clinvar
9695906 617.1 A G PASS 0/1 59 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60883 0.60880 None None None None None None ADAM17|0.398835803|20.86%
View combined sample_49.variant13 2 . 42275074 167.25 G GCGGA PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 2 . 42275080 106.77 G A PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 2 rs11541137
dbSNP Clinvar
128145771 417.33 C T PASS 0/1 38 MOTIF[MA0162.1:Egr1] LOW None 0.17033 0.17030 None None None None None None MAP3K2|0.512220802|15.28%
View combined sample_49.variant13 2 rs72985160
dbSNP Clinvar
239007292 121.44 C A PASS 0/1 16 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 4 . 190862285 345.92 CG C PASS 0/1 37 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs202227709
dbSNP Clinvar
190862239 49.33 G C PASS 0/1 69 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs79852642
dbSNP Clinvar
190862242 182.78 T C PASS 0/1 67 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs76563908
dbSNP Clinvar
190862243 188.45 G C PASS 0/1 67 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs951756219
dbSNP Clinvar
190862284 40.14 C G PASS 0/1 38 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs4145517
dbSNP Clinvar
190862287 722.33 C T,... PASS 0/2 37 MOTIF[MA0162.1:Egr1] LOW None 0.26578 0.26580 0.28299 None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 4 rs74551967
dbSNP Clinvar
190862288 121.51 A G PASS 0/1 36 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 7 rs1584613
dbSNP Clinvar
32530105 747.62 G C PASS 0/1 53 MOTIF[MA0162.1:Egr1] LOW None 0.00200 0.74860 None None None None None None LSM5|0.889080271|3.71%
View combined sample_49.variant13 7 rs753998453
dbSNP Clinvar
98741639 459.19 GC... G PASS 0/1 24 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMURF1|0.632069918|10.7%
View combined sample_49.variant13 7 rs79224858
dbSNP Clinvar
156433497 977.54 G A PASS 0/1 77 MOTIF[MA0162.1:Egr1] LOW None 0.12660 0.12660 None None None None None None RNF32|0.018283419|75.12%
View combined sample_49.variant13 8 . 103666086 33.89 A AG... PASS 0/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None KLF10|0.950136718|2.26%
View combined sample_49.variant13 9 rs1043581562
dbSNP Clinvar
127631438 538.11 G A PASS 0/1 28 MOTIF[MA0162.1:Egr1] LOW None None None None None None None ARPC5L|0.367318916|22.93%
View combined sample_49.variant13 10 rs780962014,rs57069965
dbSNP Clinvar
71168620 792.44 GC... G PASS 1/1 10 MOTIF[MA0162.1:Egr1] LOW None None None None None None None TACR2|0.074747696|56.35%
View combined sample_49.variant13 11 rs113538296
dbSNP Clinvar
110300610 1577.86 C A PASS 0/1 153 MOTIF[MA0162.1:Egr1] MODIFIER None 0.03035 0.03035 None None None None None None FDX1|0.060295982|59.79%
View combined sample_49.variant13 16 rs1349756
dbSNP Clinvar
81040492 3631.15 T C PASS 1/1 82 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 combined sample_49.variant13 16 rs7191439
dbSNP Clinvar
88780685 469.48 C T PASS 1/1 30 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View combined sample_49.variant13 17 rs139223575
dbSNP Clinvar
7123240 5734.53 T TG... PASS 0/1 201 MOTIF[MA0162.1:Egr1] LOW None 0.00679 0.46790 0.45172 None None None None None None ACADVL|0.231050725|33.28%
View combined sample_49.variant13 17 rs772438525
dbSNP Clinvar
63052899 178.35 G GGGGA PASS 0/1 5 MOTIF[MA0162.1:Egr1] LOW None None None None None None None GNA13|0.345168752|24.48%
View combined sample_49.variant13 19 rs112570276
dbSNP Clinvar
1863628 557.24 A C PASS 1/1 11 MOTIF[MA0162.1:Egr1] MODIFIER None 1.00000 1.00000 None None None None None None None
View combined sample_49.variant13 19 rs192653999
dbSNP Clinvar
18451307 572.56 G C PASS 0/1 24 MOTIF[MA0162.1:Egr1] LOW None 0.00919 0.00919 None None None None None None None
View combined sample_49.variant13 19 rs3760832
dbSNP Clinvar
46974728 660.18 C T PASS 1/1 29 MOTIF[MA0162.1:Egr1] MODIFIER None 0.74621 0.74620 None None None None None None PNMAL1|0.001937297|91.15%
View combined sample_49.variant13 19 rs2288478
dbSNP Clinvar
49866919 3216.51 T G PASS 0/1 122 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60204 0.60200 None None None None None None DKKL1|0.011993172|79.25%
View combined sample_49.variant13 19 rs72402545
dbSNP Clinvar
55587179 657.62 TG... T PASS 0/1 26 MOTIF[MA0162.1:Egr1] LOW None 0.15735 0.15730 None None None None None None EPS8L1|0.007628645|82.92%
View combined sample_49.variant13 19 rs544211227
dbSNP Clinvar
58239017 650.35 A C PASS 0/1 51 MOTIF[MA0162.1:Egr1] MODIFIER None 0.00419 0.00419 None None None None None None None
View combined sample_49.variant13 22 rs62218641
dbSNP Clinvar
20379008 48.97 G A PASS 1/1 6 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 22 rs56006201
dbSNP Clinvar
20379066 48.97 C T PASS 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 22 . 21057458 127.23 G A PASS 0/1 58 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 22 rs430858
dbSNP Clinvar
21822826 109.75 C T PASS 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 22 rs444588
dbSNP Clinvar
21822836 121.33 A G PASS 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 22 rs140459227
dbSNP Clinvar
31503580 2116.45 GC CC,G PASS 0/2 10 MOTIF[MA0162.1:Egr1] LOW None 0.59086 0.59090 None None None None None None None
View combined sample_49.variant13 1 rs1890041
dbSNP Clinvar
146714281 1160.21 C G PASS 1/1 83 MOTIF[MA0162.1:Egr1] LOW None 0.28355 0.28350 None None None None None None FMO5|0.073150574|56.76%
View combined sample_49.variant13 X rs771253733,rs372189028
dbSNP Clinvar
150565549 838.57 G GC PASS 1/1 20 MOTIF[MA0162.1:Egr1] LOW None None None None None None None VMA21|0.097445686|51.64%
View combined sample_49.variant13 1 rs6426021
dbSNP Clinvar
37979933 435.26 A G PASS 0/1 16 MOTIF[MA0162.1:Egr1] MODIFIER None 0.42592 0.42590 None None None None None None MEAF6|0.379470648|22.1%
View combined sample_49.variant13 1 rs10645094,rs199535458
dbSNP Clinvar
40840270 233.71 T TGC PASS 0/1 30 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SMAP2|0.44905213|18.19%
View combined sample_49.variant13 2 rs62196006
dbSNP Clinvar
239007264 66.78 C A PASS 0/1 26 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 2 rs62196007
dbSNP Clinvar
239007274 93.29 G A PASS 0/1 26 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 2 rs62196009
dbSNP Clinvar
239007281 78.82 C T PASS 0/1 22 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 1 . 212458836 99.36 G A PASS 0/1 17 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 1 rs2295624
dbSNP Clinvar
229644157 2140.46 G T PASS 0/1 101 MOTIF[MA0162.1:Egr1] MODIFIER None 0.22784 0.22780 None None None None None None None
View combined sample_49.variant13 2 rs372877363
dbSNP Clinvar
68479717 567.21 G GG... PASS 0/1 37 MOTIF[MA0162.1:Egr1] LOW None 0.57228 0.57230 None None None None None None PPP3R1|0.920628197|2.96%
View combined sample_49.variant13 2 rs34128716
dbSNP Clinvar
112812856 2269.25 C G PASS 0/1 74 MOTIF[MA0162.1:Egr1] LOW None 0.19189 0.19190 None None None None None None TMEM87B|0.108271211|49.54%
View combined sample_49.variant13 2 rs28576957
dbSNP Clinvar
239007232 56.86 A G PASS 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.52476 0.52480 None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 2 rs112131411
dbSNP Clinvar
239007222 77.07 C A PASS 1/1 12 MOTIF[MA0162.1:Egr1] MODIFIER None 0.49621 0.49620 None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 2 . 239007259 116.61 TGGG T,... PASS 0/1 16 MOTIF[MA0162.1:Egr1] LOW None None None None None None None SCLY|0.013575534|78.15%
View combined sample_49.variant13 4 rs76836714
dbSNP Clinvar
190862286 94.42 G T PASS 0/1 37 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None FRG1|0.098149242|51.5%
View combined sample_49.variant13 5 rs198355
dbSNP Clinvar
10761507 106.77 G A PASS 1/1 2 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 5 rs3102159
dbSNP Clinvar
10761500 141.01 G A PASS 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 5 rs2591464
dbSNP Clinvar
180288455 405.63 G C PASS 1/1 15 MOTIF[MA0162.1:Egr1] LOW None 0.82089 0.82090 None None None None None None None
View combined sample_49.variant13 9 rs7860124
dbSNP Clinvar
71788949 622.73 C A PASS 1/1 21 MOTIF[MA0162.1:Egr1] LOW None 0.44070 0.44070 None None None None None None TJP2|0.24805836|31.7%
View combined sample_49.variant13 9 rs753928831
dbSNP Clinvar
111696742 881.65 G C PASS 0/1 59 MOTIF[MA0162.1:Egr1] LOW None None None None None None None FAM206A|0.182479378|38.72%
View combined sample_49.variant13 11 rs575766409
dbSNP Clinvar
236370 175.33 C CC... PASS 1/1 8 MOTIF[MA0162.1:Egr1] LOW None 0.66813 0.66810 0.26736 None None None None None None SIRT3|0.04850739|63.11%
View combined sample_49.variant13 15 rs138608157
dbSNP Clinvar
52311384 1838.41 A AG PASS 1/1 71 MOTIF[MA0162.1:Egr1] LOW None None None None None None None MAPK6|0.717253815|8.05%
View combined sample_49.variant13 16 rs1386092
dbSNP Clinvar
4675116 2482.73 G T PASS 1/1 88 MOTIF[MA0162.1:Egr1] LOW None 0.71965 0.71960 None None None None None None MGRN1|0.132392343|45.56%
View combined sample_49.variant13 16 rs71390484
dbSNP Clinvar
84651757 424.64 G C PASS 1/1 6 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 17 rs544040158
dbSNP Clinvar
62658004 810.71 CG... C PASS 0/1 15 MOTIF[MA0162.1:Egr1] LOW None 0.07228 0.07228 None None None None None None SMURF2|0.806521606|5.64%
View combined sample_49.variant13 22 rs7292055
dbSNP Clinvar
19974654 548.05 G A PASS 1/1 66 MOTIF[MA0162.1:Egr1] LOW None 0.38998 0.39000 None None None None None None ARVCF|0.083030294|54.56%
View combined sample_49.variant13 22 rs199633170
dbSNP Clinvar
39548564 1450.12 GC... G PASS 0/1 89 MOTIF[MA0162.1:Egr1] LOW None 0.00958 0.00959 None None None None None None CBX7|0.203538064|36.28%
View combined sample_49.variant13 X rs1473666
dbSNP Clinvar
7066051 4571.31 A C PASS 1/1 104 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View combined sample_49.variant13 1 rs114477934
dbSNP Clinvar
45097584 417.54 C T PASS 0/1 34 MOTIF[MA0162.1:Egr1] LOW None 0.06889 0.06889 None None None None None None RNF220|0.917891489|3.04%
View combined sample_49.variant13 2 rs562776598
dbSNP Clinvar
676715 1891.04 G T PASS 0/1 174 MOTIF[MA0162.1:Egr1] MODIFIER None 0.00020 0.00020 None None None None None None TMEM18|0.011278558|79.82%
View combined sample_49.variant13 2 rs1823715
dbSNP Clinvar
169312649 3529.78 T C PASS 1/1 119 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99281 0.99280 None None None None None None CERS6|0.366731817|22.98%
View combined sample_49.variant13 2 rs524012
dbSNP Clinvar
219433273 229.63 T G PASS 1/1 32 MOTIF[MA0162.1:Egr1] MODIFIER None 0.66274 0.66270 None None None None None None None
View combined sample_49.variant13 3 rs968588
dbSNP Clinvar
52489564 403.62 A T PASS 0/1 8 MOTIF[MA0162.1:Egr1] MODIFIER None 0.97125 0.97120 None None None None None None NISCH|0.147521349|43.38%
View combined sample_49.variant13 3 rs78053665
dbSNP Clinvar
52719980 1476.71 C G PASS 0/1 115 MOTIF[MA0162.1:Egr1] LOW None 0.01278 0.01278 None None None None None None GNL3|0.156229255|42.12%
View combined sample_49.variant13 3 rs13082210
dbSNP Clinvar
73045888 392.98 G A PASS 0/1 37 MOTIF[MA0162.1:Egr1] MODIFIER None 0.18071 0.18070 None None None None None None GXYLT2|0.227761838|33.54%
View combined sample_49.variant13 5 rs72711370
dbSNP Clinvar
421057 183.85 A C PASS 0/1 11 MOTIF[MA0162.1:Egr1] MODIFIER None 0.13978 0.13980 None None None None None None AHRR|0.004021791|87%
View combined sample_49.variant13 5 . 443344 137.76 GG... GG... PASS 0/2 21 MOTIF[MA0162.1:Egr1] LOW None None None None None None None EXOC3|0.113521181|48.58%
View combined sample_49.variant13 6 rs748492899,rs67665771
dbSNP Clinvar
18155353 1047.56 TC... T,... PASS 1/2 31 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 9 rs13299681
dbSNP Clinvar
37422520 1498.07 C T PASS 0/1 134 MOTIF[MA0162.1:Egr1] LOW None 0.22264 0.22260 None None None None None None None
View combined sample_49.variant13 9 rs67294455
dbSNP Clinvar
37422521 922.04 CA C PASS 0/1 142 MOTIF[MA0162.1:Egr1] LOW None 0.40256 0.40260 None None None None None None None
View combined sample_49.variant13 10 rs145070400
dbSNP Clinvar
93170012 339.97 C A PASS 0/1 13 MOTIF[MA0162.1:Egr1] MODIFIER None 0.10503 0.10500 None None None None None None None
View combined sample_49.variant13 11 rs2786801
dbSNP Clinvar
32914791 250.94 G C PASS 1/1 7 MOTIF[MA0162.1:Egr1] LOW None None None None None None None QSER1|0.186112132|38.25%
View combined sample_49.variant13 11 rs547193816
dbSNP Clinvar
65343399 633.27 C CC... PASS 0/1 10 MOTIF[MA0162.1:Egr1] LOW None 0.14557 0.14560 None None None None None None None
View combined sample_49.variant13 12 rs142252797
dbSNP Clinvar
42632275 558.75 G GG... PASS 0/1 19 MOTIF[MA0162.1:Egr1] LOW None None None None None None None PPHLN1|0.347482607|24.32%
View combined sample_49.variant13 12 rs2302701
dbSNP Clinvar
109125340 207.53 C A PASS 0/1 14 MOTIF[MA0162.1:Egr1] LOW None 0.24361 0.24360 None None None None None None CORO1C|0.224081019|33.94%
View combined sample_49.variant13 12 rs2302700
dbSNP Clinvar
109125339 207.53 G A PASS 0/1 14 MOTIF[MA0162.1:Egr1] MODIFIER None 0.24361 0.24360 None None None None None None CORO1C|0.224081019|33.94%
View combined sample_49.variant13 15 rs734252
dbSNP Clinvar
91446472 918.36 T C PASS 1/1 76 MOTIF[MA0162.1:Egr1] MODIFIER None 0.70347 0.70350 None None None None None None MAN2A2|0.094772345|52.17%
View combined sample_49.variant13 16 rs2235632
dbSNP Clinvar
1393020 546.97 G A PASS 1/1 26 MOTIF[MA0162.1:Egr1] LOW None 0.35184 0.35180 0.40325 None None None None None None BAIAP3|0.02462485|71.97%
View combined sample_49.variant13 16 rs758071271
dbSNP Clinvar
89653540 816.45 CCCT C PASS 0/1 22 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CPNE7|0.016959249|75.88%
View combined sample_49.variant13 18 rs139314847
dbSNP Clinvar
6729591 247.27 A AC... PASS 0/1 10 MOTIF[MA0162.1:Egr1] LOW None None None None None None None None
View combined sample_49.variant13 18 rs1077511
dbSNP Clinvar
77748525 222.57 A C PASS 1/1 48 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
View combined sample_49.variant13 19 rs10419483
dbSNP Clinvar
13208737 2942.27 A T PASS 1/1 76 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99940 0.99940 None None None None None None NFIX|0.983719259|1.34%
View combined sample_49.variant13 19 rs201974585,rs376479030
dbSNP Clinvar
17535867 3728.47 CC... C PASS 0/1 86 MOTIF[MA0162.1:Egr1] LOW None 0.07879 None None None None None None MVB12A|0.023768005|72.31%
View combined sample_49.variant13 19 . 56159796 4602.25 CG... CG... PASS 0/1 94 MOTIF[MA0162.1:Egr1] LOW None None None None None None None CCDC106|0.028132476|70.36%
View combined sample_49.variant13 22 . 23487441 281.65 G C PASS 0/1 18 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View combined sample_49.variant13 22 . 23487445 272.62 A C PASS 0/1 20 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
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