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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

LTBP2, NDUFB9,
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)

Genes at Clinical Genomics Database

LTBP2,
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3

Genes at HGMD

Summary

Number of Variants: 113
Number of Genes: 3

Export to: CSV

FAM210B

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_43.variant7 20 rs17362677
dbSNP Clinvar
54935242 886.53 A T PASS 0/1 141 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10184 0.10180 0.00 None None None None None None FAM210B|0.003888312|87.18%

LTBP2

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_43.variant7 14 rs77172932
dbSNP Clinvar
74969268 592.22 C T PASS 0/1 119 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%

NDUFB9

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_43.variant7 8 rs10195
dbSNP Clinvar
125562029 1154.37 C T PASS 0/1 127 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10284 0.10280 0.09042 0.36 0.01 None None None None None None NDUFB9|0.09890784|51.37%
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_43.variant7 1 rs4360494
dbSNP Clinvar
38455891 1052.56 G C PASS 1/1 93 MOTIF[MA0139.1:CTCF] MODIFIER None 0.37660 0.37660 None None None None None None SF3A3|0.722961805|7.89%
View combined sample_43.variant7 1 rs3738035
dbSNP Clinvar
225965527 1094.12 C A PASS 0/1 89 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10963 0.10960 None None None None None None None
View combined sample_43.variant7 3 rs200927208
dbSNP Clinvar
119139233 1985.6 AG A PASS 0/1 65 MOTIF[MA0139.1:CTCF] LOW None 0.14018 0.14020 None None None None None None ARHGAP31|0.196163887|37.14%
View combined sample_43.variant7 4 rs3796863
dbSNP Clinvar
15849986 144.81 G T PASS 0/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43510 0.43510 None None None None None None CD38|0.014380427|77.57%
View combined sample_43.variant7 4 rs10639733,rs768598040
dbSNP Clinvar
120550125 4045.94 A AG... PASS 1/1 113 MOTIF[MA0139.1:CTCF] LOW None None None None None None None PDE5A|0.288780989|28.44%
View combined sample_43.variant7 5 rs248245
dbSNP Clinvar
179265261 1992.44 G A PASS 1/1 76 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57728 0.57730 None None None None None None C5orf45|0.001770546|91.6%
View combined sample_43.variant7 6 rs2296358
dbSNP Clinvar
7390369 3033.19 T C PASS 1/1 141 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87560 0.87560 None None None None None None RIOK1|0.078777032|55.49%
View combined sample_43.variant7 7 rs4072597
dbSNP Clinvar
772025 433.77 G A PASS 0/1 33 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43810 0.43810 None None None None None None DNAAF5|0.006014089|84.58%
View combined sample_43.variant7 7 rs11761361
dbSNP Clinvar
102107697 242.99 G C PASS 1/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None LRWD1|0.105506437|50.14%
View combined sample_43.variant7 7 rs11768828
dbSNP Clinvar
102810717 589.78 A G PASS 1/1 89 MOTIF[MA0139.1:CTCF] MODIFIER None 0.75639 0.75640 None None None None None None None
View combined sample_43.variant7 7 rs3735173
dbSNP Clinvar
150020526 302.76 C T PASS 0/1 45 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32748 0.32750 None None None None None None ACTR3C|0.005900668|84.7%,LRRC61|0.022118125|73.11%
View combined sample_43.variant7 7 rs5888422,rs397781507
dbSNP Clinvar
150672162 1307.95 T TC PASS 1/1 47 MOTIF[MA0139.1:CTCF] LOW None 1.00000 1.00000 None None None None None None KCNH2|0.688011457|8.87%
View combined sample_43.variant7 8 rs1987433
dbSNP Clinvar
7916609 52.7 C A DRAGENHardSNP 0/1 9 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_43.variant7 9 rs1572344
dbSNP Clinvar
133948375 1297.09 T C PASS 1/1 48 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81550 0.81550 None None None None None None LAMC3|0.028908459|69.93%
View combined sample_43.variant7 9 rs12350740
dbSNP Clinvar
139637541 263.6 T C PASS 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.25280 0.25280 None None None None None None LCN10|0.001307936|93.85%
View combined sample_43.variant7 9 rs17250680
dbSNP Clinvar
139820363 1773.27 A G PASS 0/1 138 MOTIF[MA0139.1:CTCF] MODIFIER None 0.03055 0.03055 0.04290 None None None None None None TRAF2|0.106243401|49.93%
View combined sample_43.variant7 10 rs2784774
dbSNP Clinvar
81921553 1386.46 T C PASS 1/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.94968 0.94970 None None None None None None ANXA11|0.080075284|55.15%
View combined sample_43.variant7 13 rs9553420
dbSNP Clinvar
25268417 656.46 G A PASS 0/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29872 0.29870 None None None None None None ATP12A|0.195110246|37.26%
View combined sample_43.variant7 14 rs6109
dbSNP Clinvar
95058360 905.98 A G PASS 0/1 21 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View combined sample_43.variant7 14 rs10147348
dbSNP Clinvar
105363202 613.76 A G PASS 0/1 32 MOTIF[MA0139.1:CTCF] MODIFIER None 0.57847 0.57850 None None None None None None None
View combined sample_43.variant7 15 rs55986634
dbSNP Clinvar
64275645 576.37 G A PASS 0/1 45 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16214 0.16210 None None None None None None DAPK2|0.301329146|27.56%
View combined sample_43.variant7 15 rs351242
dbSNP Clinvar
74472716 426.22 G A PASS 1/1 31 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81969 0.81970 None None None None None None STRA6|0.02555581|71.53%
View combined sample_43.variant7 15 rs11312224,rs398078309,rs397854153
dbSNP Clinvar
75130015 836.88 AG A PASS 1/1 59 MOTIF[MA0139.1:CTCF] LOW None None None None None None None ULK3|0.181646729|38.83%
View combined sample_43.variant7 15 rs62023331
dbSNP Clinvar
89182466 583.58 C T PASS 1/1 86 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32468 0.32470 None None None None None None ISG20|0.032296322|68.47%
View combined sample_43.variant7 16 rs7206590
dbSNP Clinvar
85120500 427.5 C T PASS 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29293 0.29290 None None None None None None KIAA0513|0.076353431|56.01%
View combined sample_43.variant7 16 rs2291963
dbSNP Clinvar
85120510 460.79 A G PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36582 0.36580 None None None None None None KIAA0513|0.076353431|56.01%
View combined sample_43.variant7 17 rs2286519
dbSNP Clinvar
26881730 78.86 G A PASS 0/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.21346 0.21350 None None None None None None PIGS|0.21644599|34.82%
View combined sample_43.variant7 17 rs867930287
dbSNP Clinvar
60342600 150.9 T G PASS 0/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47684 0.47680 None None None None None None None
View combined sample_43.variant7 17 rs868186438
dbSNP Clinvar
60342605 121.47 G A PASS 1/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_43.variant7 17 rs7214378
dbSNP Clinvar
77909085 1862.75 C T PASS 0/1 153 MOTIF[MA0139.1:CTCF] MODIFIER None 0.31629 0.31630 None None None None None None TBC1D16|0.068326777|57.86%
View combined sample_43.variant7 19 rs1683561
dbSNP Clinvar
862024 286.56 C G PASS 0/1 35 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50459 0.50460 None None None None None None CFD|0.01627383|76.28%
View combined sample_43.variant7 19 rs11668153
dbSNP Clinvar
4352763 450.3 C T PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.64896 0.64900 None None None None None None MPND|0.028339111|70.27%
View combined sample_43.variant7 19 rs10432306
dbSNP Clinvar
5892743 1807.13 C T PASS 0/1 139 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41274 0.41270 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View combined sample_43.variant7 19 rs1631032
dbSNP Clinvar
5892770 1569.46 C T PASS 1/1 129 MOTIF[MA0139.1:CTCF] MODIFIER None 0.58586 0.58590 None None None None None None FUT5|0.001156471|94.68%,NDUFA11|0.003107133|88.49%
View combined sample_43.variant7 19 rs2301669
dbSNP Clinvar
19453560 3912.7 C A PASS 0/1 173 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View combined sample_43.variant7 19 rs338584
dbSNP Clinvar
41712113 1373.92 C G PASS 0/1 33 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28215 0.28210 None None None None None None CYP2S1|0.00746674|83.09%
View combined sample_43.variant7 20 rs6086563
dbSNP Clinvar
8703145 2655.74 C G PASS 0/1 81 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66214 0.66210 None None None None None None PLCB1|0.832831133|5.05%
View combined sample_43.variant7 20 rs2282207
dbSNP Clinvar
46415411 84.96 G C PASS 1/1 20 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63738 0.63740 None None None None None None None
View combined sample_43.variant7 21 rs8130574
dbSNP Clinvar
45180422 1478.47 G A PASS 0/1 63 MOTIF[MA0139.1:CTCF] MODIFIER None 0.80132 0.80130 None None None None None None PDXK|0.079279748|55.34%
View combined sample_43.variant7 1 rs61769341
dbSNP Clinvar
664468 343.75 G T DRAGENHardSNP 0/1 112 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View combined sample_43.variant7 22 rs6269
dbSNP Clinvar
19949952 731.92 A G PASS 1/1 82 MOTIF[MA0139.1:CTCF] MODIFIER None 0.35683 0.35680 None None None None None None COMT|0.166055932|40.8%
View combined sample_43.variant7 1 rs2027222
dbSNP Clinvar
9084924 552.78 T C PASS 1/1 84 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View combined sample_43.variant7 1 rs578144077
dbSNP Clinvar
16400166 112.42 G A PASS 1/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.03435 0.03435 None None None None None None None
View combined sample_43.variant7 1 rs857148
dbSNP Clinvar
57175158 4232.46 A C PASS 0/1 345 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48423 0.48420 None None None None None None PRKAA2|0.348711913|24.24%
View combined sample_43.variant7 4 rs191855406
dbSNP Clinvar
7763760 1088.87 C T PASS 0/1 92 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00120 0.00120 None None None None None None AFAP1|0.028735408|70.06%
View combined sample_43.variant7 4 rs2269850
dbSNP Clinvar
7763761 2511.91 A G PASS 1/1 90 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66813 0.66810 None None None None None None AFAP1|0.028735408|70.06%
View combined sample_43.variant7 4 rs17470892
dbSNP Clinvar
48143201 354.5 T C PASS 0/1 15 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View combined sample_43.variant7 4 rs2116326
dbSNP Clinvar
90228736 1601.26 A G PASS 1/1 51 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05252 0.05252 None None None None None None GPRIN3|0.003353372|88%
View combined sample_43.variant7 5 rs4705755
dbSNP Clinvar
112379434 402.07 T A PASS 1/1 37 MOTIF[MA0139.1:CTCF] MODIFIER None 0.49281 0.49280 None None None None None None MCC|0.469013944|17.21%
View combined sample_43.variant7 5 rs748744
dbSNP Clinvar
176085207 866.1 T C PASS 1/1 39 MOTIF[MA0139.1:CTCF] MODIFIER None 0.72863 0.72860 None None None None None None TSPAN17|0.095031849|52.11%
View combined sample_43.variant7 8 rs5888910,rs397698661
dbSNP Clinvar
1729582 577.37 C CTGG PASS 1/1 45 MOTIF[MA0139.1:CTCF] LOW None 0.61901 0.61900 None None None None None None CLN8|0.015531921|76.78%
View combined sample_43.variant7 8 rs3802285
dbSNP Clinvar
62491943 3972.07 G A PASS 0/1 302 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81889 0.81890 None None None None None None ASPH|0.124407055|46.75%
View combined sample_43.variant7 9 rs17258783
dbSNP Clinvar
34253097 672.88 C T PASS 0/1 56 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13399 0.13400 None None None None None None KIF24|0.039737208|65.85%
View combined sample_43.variant7 9 rs1322045
dbSNP Clinvar
35754500 1709.78 G A PASS 0/1 68 MOTIF[MA0139.1:CTCF] MODIFIER None 0.65336 0.65340 None None None None None None RGP1|0.260192873|30.72%,MSMP|0.218073882|34.6%
View combined sample_43.variant7 11 rs2286810
dbSNP Clinvar
22851409 3436.65 A G PASS 1/1 81 MOTIF[MA0139.1:CTCF] MODIFIER None 0.38299 0.38300 None None None None None None SVIP|0.065416803|58.51%
View combined sample_43.variant7 12 rs3217162,rs34650913,rs796811851
dbSNP Clinvar
109888158 2483.18 GGCC G PASS 0/1 81 MOTIF[MA0139.1:CTCF] LOW None 0.47784 0.47780 None None None None None None MYO1H|0.08059629|55.04%,KCTD10|0.111795137|48.88%
View combined sample_43.variant7 12 rs1244063
dbSNP Clinvar
124832606 2054.74 A G PASS 1/1 88 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76578 0.76580 None None None None None None NCOR2|0.460506037|17.66%
View combined sample_43.variant7 13 rs9535292
dbSNP Clinvar
50244041 1875.59 T C PASS 0/1 83 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View combined sample_43.variant7 14 rs7146599
dbSNP Clinvar
24527672 190.86 G A PASS 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28335 0.28330 None None None None None None LRRC16B|0.163892643|41.04%
View combined sample_43.variant7 14 rs4982856
dbSNP Clinvar
24563212 5173.76 T C PASS 1/1 145 MOTIF[MA0139.1:CTCF] MODIFIER None 0.41154 0.41150 None None None None None None NRL|0.215034879|34.98%
View combined sample_43.variant7 14 rs73593291
dbSNP Clinvar
24906094 1008.19 T C PASS 0/1 68 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16813 0.16810 None None None None None None KHNYN|0.038013777|66.45%
View combined sample_43.variant7 14 rs1987970
dbSNP Clinvar
107198866 1030.32 T G PASS 1/1 45 MOTIF[MA0139.1:CTCF] MODIFIER None 1.00000 1.00000 None None None None None None None
View combined sample_43.variant7 15 rs9920885
dbSNP Clinvar
98418953 215.39 A C PASS 1/1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81590 0.81590 None None None None None None None
View combined sample_43.variant7 16 rs28434657
dbSNP Clinvar
3109411 688.91 G A PASS 0/1 47 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16294 0.16290 None None None None None None MMP25|0.021406382|73.48%
View combined sample_43.variant7 16 rs17525883
dbSNP Clinvar
3508012 538.73 A C PASS 0/1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11342 0.11340 None None None None None None NAA60|0.257270367|30.98%
View combined sample_43.variant7 16 rs9934889
dbSNP Clinvar
19422019 4871.49 A C PASS 1/1 125 MOTIF[MA0139.1:CTCF] MODIFIER None 0.85623 0.85620 None None None None None None TMC5|0.020155456|74.1%
View combined sample_43.variant7 16 rs201475067
dbSNP Clinvar
30124395 2152.35 G C PASS 0/1 195 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00040 0.00040 None None None None None None GDPD3|0.04001567|65.78%
View combined sample_43.variant7 17 rs820387
dbSNP Clinvar
73746146 1182.9 T C PASS 1/1 109 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View combined sample_43.variant7 19 rs10423542
dbSNP Clinvar
17316261 1075.29 G A PASS 0/1 75 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05092 0.05092 None None None None None None MYO9B|0.037345575|66.66%
View combined sample_43.variant7 21 rs117138955
dbSNP Clinvar
38362531 1012.95 T C PASS 0/1 27 MOTIF[MA0139.1:CTCF] MODIFIER None 0.25978 0.25980 None None None None None None HLCS|0.002146669|90.61%
View combined sample_43.variant7 21 rs118091633
dbSNP Clinvar
38362536 1006.93 T C PASS 0/1 26 MOTIF[MA0139.1:CTCF] MODIFIER None 0.25978 0.25980 None None None None None None HLCS|0.002146669|90.61%
View combined sample_43.variant7 22 rs766951533
dbSNP Clinvar
21822372 494.87 CA... C PASS 1/1 13 MOTIF[MA0139.1:CTCF] LOW None None None None None None None None
View combined sample_43.variant7 1 rs79328769
dbSNP Clinvar
149379694 765.74 C T PASS 0/1 73 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19908 0.19910 None None None None None None None
View combined sample_43.variant7 1 rs2297606
dbSNP Clinvar
154321084 882.05 G T PASS 1/1 57 MOTIF[MA0139.1:CTCF] MODIFIER None 0.20268 0.20270 None None None None None None ATP8B2|0.157327107|41.99%
View combined sample_43.variant7 1 rs12728349
dbSNP Clinvar
161024782 123.2 C T PASS 0/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.40296 0.40300 None None None None None None ARHGAP30|0.052332049|61.97%
View combined sample_43.variant7 2 rs843705
dbSNP Clinvar
54481592 808.66 C G PASS 0/1 62 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50619 0.50620 None None None None None None ACYP2|0.067344086|58.08%,TSPYL6|0.001250679|94.15%
View combined sample_43.variant7 3 rs2269443
dbSNP Clinvar
46491290 637.6 G A PASS 0/1 25 MOTIF[MA0139.1:CTCF] MODIFIER None 0.18291 0.18290 None None None None None None LTF|0.008447646|82.21%
View combined sample_43.variant7 5 rs2431072
dbSNP Clinvar
150677976 758.29 T C PASS 1/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None 0.82568 0.82570 None None None None None None SLC36A3|0.018050533|75.25%
View combined sample_43.variant7 6 rs295333
dbSNP Clinvar
159590376 125.23 A G PASS 1/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.55232 0.55230 None None None None None None None
View combined sample_43.variant7 7 rs1008384
dbSNP Clinvar
44178626 1071.46 A G PASS 0/1 118 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16494 0.16490 0.19968 None None None None None None MYL7|0.150786926|42.85%
View combined sample_43.variant7 8 rs4841558
dbSNP Clinvar
11415597 2344.75 C T PASS 0/1 93 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View combined sample_43.variant7 8 rs1042701
dbSNP Clinvar
11422045 13274.0 G A PASS 0/1 359 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View combined sample_43.variant7 8 rs1736082
dbSNP Clinvar
11703420 248.05 C T PASS 0/1 12 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10683 0.10680 None None None None None None CTSB|0.202646008|36.44%
View combined sample_43.variant7 8 rs11784716
dbSNP Clinvar
11872723 1136.88 A G PASS 1/1 33 MOTIF[MA0139.1:CTCF] MODIFIER None 0.99701 0.99700 None None None None None None None
View combined sample_43.variant7 8 rs2002368
dbSNP Clinvar
12517027 642.67 C G PASS 0/1 50 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36681 0.36680 None None None None None None None
View combined sample_43.variant7 11 rs4078520
dbSNP Clinvar
723429 1154.86 C T PASS 0/1 101 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34165 0.34170 None None None None None None EPS8L2|0.009899843|80.93%
View combined sample_43.variant7 11 rs575375
dbSNP Clinvar
64535357 2257.0 T C PASS 1/1 120 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View combined sample_43.variant7 12 rs1379610
dbSNP Clinvar
53681683 1362.65 A G PASS 0/1 48 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11222 0.11220 None None None None None None ESPL1|0.25246921|31.33%
View combined sample_43.variant7 12 rs11043243
dbSNP Clinvar
122356370 1381.15 G C PASS 0/1 145 MOTIF[MA0139.1:CTCF] MODIFIER None 0.16594 0.16590 None None None None None None WDR66|0.006624265|83.92%
View combined sample_43.variant7 12 rs10751704
dbSNP Clinvar
132335963 6563.24 T G PASS 1/1 148 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48802 0.48800 None None None None None None MMP17|0.027229516|70.78%
View combined sample_43.variant7 13 rs67765306
dbSNP Clinvar
40229842 5381.25 A AG PASS 1/1 121 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View combined sample_43.variant7 14 rs61994063
dbSNP Clinvar
93153412 648.61 G A PASS 0/1 74 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19589 0.19590 None None None None None None RIN3|0.02491419|71.85%
View combined sample_43.variant7 14 . 106790937 73.34 GA G PASS 0/1 36 MOTIF[MA0139.1:CTCF] LOW None None None None None None None None
View combined sample_43.variant7 15 rs17554484
dbSNP Clinvar
34502406 67.91 T C PASS 0/1 5 MOTIF[MA0139.1:CTCF] MODIFIER None 0.15595 0.15600 None None None None None None None
View combined sample_43.variant7 15 rs7164266
dbSNP Clinvar
35262087 351.56 C T PASS 1/1 22 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62240 0.62240 None None None None None None None
View combined sample_43.variant7 15 rs2253603
dbSNP Clinvar
40565055 8380.75 G A PASS 1/1 261 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View combined sample_43.variant7 16 rs13330770
dbSNP Clinvar
84178647 508.45 A G PASS 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.51418 0.51420 None None None None None None HSDL1|0.061467995|59.45%