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+ Genes 6

+ Genes associated with diseases 3

Genes at Omim

DEPDC5, FANCA, LTBP2,
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
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)

Genes at Clinical Genomics Database

DEPDC5, FANCA, LTBP2,
DEPDC5 Epilepsy, familial focal, with variable foci
FANCA Fanconi anemia, complementation group A
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: 341
Number of Genes: 6

Export to: CSV

CYB5R2
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 11 . 7687158 3053.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 34 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10 0.05 None None None None None None CYB5R2|0.057621137|60.52%

DEPDC5
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 rs5749334
dbSNP Clinvar 		32211412 550.45 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0065.2:PPARG] MODIFIER None 0.66594 0.66590 0.38232 None None None None None None DEPDC5|0.189227738|37.92%

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 rs17362677
dbSNP Clinvar 		54935242 1065.34 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.10184 0.10180 0.00 None None None None None None FAM210B|0.003888312|87.18%

FAM3B
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 21 . 42694787 3928.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 84 MOTIF[MA0065.1:PPARG] MODIFIER None 0.00 None None None None None None FAM3B|0.008580766|82.07%

FANCA
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs72631431
dbSNP Clinvar 		89882826 358.69 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.57368 0.57370 None None None None None None FANCA|0.007695026|82.85%

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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 14 rs77172932
dbSNP Clinvar 		74969268 2357.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02556 0.02556 0.00 None None None None None None LTBP2|0.184719306|38.39%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs2251098
dbSNP Clinvar 		3566706 3237.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 8 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs2027222
dbSNP Clinvar 		9084924 13627.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81709 0.81710 None None None None None None SLC2A7|0.007683394|82.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs11577583
dbSNP Clinvar 		23286224 335.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.40056 0.40060 None None None None None None LACTBL1|0.128592718|46.08%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 35325512 49.27 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 42204914 20.6 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0058.1:Max] MODIFIER None None None None None None None HIVEP3|0.160477454|41.45%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs839752
dbSNP Clinvar 		43855546 5257.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 74 MOTIF[MA0062.2:Gabp] MODIFIER None 0.22804 0.22800 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 51766952 15.82 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0083.1:Srf] MODIFIER None None None None None None None TTC39A|0.134473086|45.18%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs6537853
dbSNP Clinvar 		115603340 372.58 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.93411 0.93410 None None None None None None TSPAN2|0.271901962|29.75%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 155220959 3375.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 46 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None FAM189B|0.087555611|53.72%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs12131289
dbSNP Clinvar 		156446450 1211.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.57149 0.57150 None None None None None None MEF2D|0.599412285|11.77%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 rs11119258
dbSNP Clinvar 		209530668 24.92 A C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.12001 0.12000 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 rs7564882
dbSNP Clinvar 		209134025 176.81 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96386 0.96390 None None None None None None PIKFYVE|0.407766308|20.32%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 rs7605498
dbSNP Clinvar 		209134035 334.72 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00060 0.96310 None None None None None None PIKFYVE|0.407766308|20.32%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 2 . 227664864 56.09 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 rs1655662
dbSNP Clinvar 		10780742 140.49 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.72883 0.72880 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 . 47517563 21.93 G T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None SCAP|0.189534657|37.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 rs7611951
dbSNP Clinvar 		58173624 65.58 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.85483 0.85480 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 rs4857406
dbSNP Clinvar 		98312581 439.34 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 10 MOTIF[MA0140.1:Tal1] MODIFIER None 0.40775 0.40770 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 rs4481172
dbSNP Clinvar 		128372657 74.2 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63978 0.63980 None None None None None None RPN1|0.229532356|33.41%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 3 rs389697
dbSNP Clinvar 		137787615 228.48 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.62899 0.62900 None None None None None None DZIP1L|0.015847146|76.57%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs28742266
dbSNP Clinvar 		651369 710.37 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 MOTIF[MA0159.1:RXR] MODIFIER None 0.13898 0.13900 None None None None None None PDE6B|0.253348042|31.26%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs17470892
dbSNP Clinvar 		48143201 1643.7 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.19569 0.19570 None None None None None None TEC|0.720083632|7.97%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 5 rs367597
dbSNP Clinvar 		672008 153.06 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.75220 0.75220 None None None None None None TPPP|0.091883167|52.84%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 5 rs2607301
dbSNP Clinvar 		10250047 124.71 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 1/1 6 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None CCT5|0.365250197|23.05%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 5 rs3111204
dbSNP Clinvar 		10761528 146.11 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 5 rs34740122
dbSNP Clinvar 		145826646 1144.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0139.1:CTCF] MODIFIER None 0.06589 0.06589 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 5 rs322473
dbSNP Clinvar 		145974850 218.95 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.71126 0.71130 None None None None None None PPP2R2B|0.952734839|2.17%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 . 14211285 100.64 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 rs2596429
dbSNP Clinvar 		31334821 1577.14 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.90974 0.90970 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 . 31628616 20.6 C G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 . 31648830 91.7 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 MOTIF[MA0059.1:Cmyc] MODIFIER None None None None None None None LY6G5C|0.004263279|86.66%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 rs120626
dbSNP Clinvar 		33247875 40.9 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.43371 0.43370 0.35042 None None None None None None B3GALT4|0.016282049|76.27%,WDR46|0.085213811|54.11%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 rs1570759
dbSNP Clinvar 		33633940 244.69 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.34525 0.34520 None None None None None None ITPR3|0.727036054|7.77%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 6 rs1322816
dbSNP Clinvar 		109703727 2314.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 38 MOTIF[MA0162.1:Egr1] MODIFIER None 0.31330 0.31330 None None None None None None CD164|0.021636554|73.38%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 7 rs80040741
dbSNP Clinvar 		100608929 5018.34 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 38 MOTIF[MA0079.2:SP1] MODIFIER None 0.00040 0.00040 None None None None None None MUC3A|0.001683398|91.94%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 7 . 148787946 14.54 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 7 rs3735173
dbSNP Clinvar 		150020526 384.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 10 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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 8 . 34840044 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0083.1:Srf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 8 rs2250895
dbSNP Clinvar 		145692296 6042.93 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 46 MOTIF[MA0058.1:Max] MODIFIER None 0.93730 0.93730 0.00952 None None None None None None KIFC2|0.020866379|73.72%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 9 rs3013306
dbSNP Clinvar 		139440845 13219.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 40 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.35423 0.35420 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 9 rs9411215
dbSNP Clinvar 		139569066 592.52 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0059.1:Cmyc] MODIFIER None 0.71925 0.71920 None None None None None None AGPAT2|0.018792809|74.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 10 rs1126827
dbSNP Clinvar 		48438734 4126.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 18 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 10 rs10887415
dbSNP Clinvar 		81804924 24.92 T G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.54992 0.54990 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 11 rs11217142
dbSNP Clinvar 		98704691 65.9 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0099.2:AP1] MODIFIER None 0.17292 0.17290 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 12 rs71459397
dbSNP Clinvar 		57335150 1985.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 14 MOTIF[MA0099.1:Cfos] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 11 rs114076082
dbSNP Clinvar 		124670383 1358.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 MOTIF[MA0095.1:Yy1] MODIFIER None 0.08007 0.08007 None None None None None None MSANTD2|0.510799275|15.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 12 rs10751704
dbSNP Clinvar 		132335963 116.09 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.48802 0.48800 None None None None None None MMP17|0.027229516|70.78%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 12 . 132855940 24.92 C G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None GALNT9|0.073912127|56.53%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 . 33160541 20.1 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 13 rs9535292
dbSNP Clinvar 		50244041 5815.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 56 MOTIF[MA0139.1:CTCF] MODIFIER None 0.61062 0.61060 0.37188 None None None None None None EBPL|0.026484478|71.13%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 14 rs944001
dbSNP Clinvar 		103599502 122.88 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 2 MOTIF[MA0058.1:Max] MODIFIER None 0.17891 0.17890 None None None None None None TNFAIP2|0.012866014|78.58%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 15 rs2253603
dbSNP Clinvar 		40565055 9052.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 122 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 15 rs9920885
dbSNP Clinvar 		98418953 238.72 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.81590 0.81590 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs889806
dbSNP Clinvar 		4258395 102.91 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 0.50060 0.50060 None None None None None None SRL|0.436617947|18.86%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs9934438
dbSNP Clinvar 		31104878 3545.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 78 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.35583 0.35580 None None None None None None VKORC1|0.065829052|58.39%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs183419
dbSNP Clinvar 		57406855 208.95 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0079.2:SP1] MODIFIER None 0.82368 0.82370 None None None None None None CX3CL1|0.009929846|80.89%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs888652
dbSNP Clinvar 		87712366 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.76877 0.76880 None None None None None None JPH3|0.231218042|33.27%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs12931876
dbSNP Clinvar 		87874182 1308.0 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 14 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24201 0.24200 None None None None None None SLC7A5|0.094869709|52.16%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 16 rs7191439
dbSNP Clinvar 		88780685 9753.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 44 MOTIF[MA0162.1:Egr1] MODIFIER None 0.01018 0.84840 0.12860 None None None None None None CTU2|0.007426883|83.12%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs2189336
dbSNP Clinvar 		5326162 4907.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 40 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs960121
dbSNP Clinvar 		65713796 61.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0062.2:Gabp] MODIFIER None 0.75020 0.75020 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs73366123
dbSNP Clinvar 		73590787 4286.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 54 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05731 0.05731 None None None None None None MYO15B|0.030988884|68.97%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 . 73746138 4558.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 42 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None ITGB4|0.346553835|24.38%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs820387
dbSNP Clinvar 		73746146 16494.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 52 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs2665961
dbSNP Clinvar 		74023107 2272.95 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50839 0.50840 None None None None None None EVPL|0.131929334|45.62%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 17 rs12945348
dbSNP Clinvar 		80804285 105.96 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.32528 0.32530 None None None None None None TBCD|0.013900212|77.94%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 18 rs11082011
dbSNP Clinvar 		35145122 267.36 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0138.2:Nrsf] MODIFIER None 0.48662 0.48660 None None None None None None CELF4|0.8655122|4.37%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 18 . 58756110 20.1 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 . 727290 47.1 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 4 MOTIF[MA0159.1:RXR] MODIFIER None None None None None None None PALM|0.008810773|81.85%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 . 727295 47.0 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 2 MOTIF[MA0159.1:RXR] MODIFIER None None None None None None None PALM|0.008810773|81.85%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 . 727296 47.0 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 2 MOTIF[MA0159.1:RXR] MODIFIER None None None None None None None PALM|0.008810773|81.85%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 18 rs1077511
dbSNP Clinvar 		77748525 548.8 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 0.79812 0.79810 None None None None None None TXNL4A|0.151661677|42.73%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs2904440
dbSNP Clinvar 		29379391 58.64 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 . 2950936 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0079.1:SP1] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs2602708
dbSNP Clinvar 		4915341 212.92 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0099.1:Cfos] MODIFIER None 0.68790 0.68790 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs10432306
dbSNP Clinvar 		5892743 2874.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 46 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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs1631032
dbSNP Clinvar 		5892770 3092.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 62 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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs10419483
dbSNP Clinvar 		13208737 105.91 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0162.1:Egr1] MODIFIER None 0.99940 0.99940 None None None None None None NFIX|0.983719259|1.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs7252213
dbSNP Clinvar 		44576863 62.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.79193 0.79190 None None None None None None ZNF284|0.000961429|95.72%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 . 45449392 14.53 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0114.1:HNF4A] MODIFIER None None None None None None None APOC4|0.001267277|94.07%,APOC4-APOC2|0.001598854|92.35%,APOC2|0.002869869|88.9%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 19 rs2288478
dbSNP Clinvar 		49866919 198.46 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 MOTIF[MA0162.1:Egr1] MODIFIER None 0.60204 0.60200 None None None None None None DKKL1|0.011993172|79.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 rs1891683
dbSNP Clinvar 		23249745 109.37 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0047.2:FOXA2] MODIFIER None 0.85044 0.85040 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 rs1980479
dbSNP Clinvar 		39599001 74.2 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.66633 0.66630 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 20 rs2281282
dbSNP Clinvar 		49575334 1357.7 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0062.2:Gabp] MODIFIER None 0.52796 0.52800 0.42189 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 . 44263912 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0138.2:Nrsf] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 . 44285858 2069.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None PNPLA5|0.001532767|92.61%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 21 rs117523877
dbSNP Clinvar 		45553452 1643.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 MOTIF[MA0162.1:Egr1] MODIFIER None 0.00080 0.01677 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 rs13053731
dbSNP Clinvar 		36682707 2184.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 30 MOTIF[MA0139.1:CTCF] MODIFIER None 0.04113 0.04113 None None None None None None MYH9|0.668562251|9.42%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 22 rs2187890
dbSNP Clinvar 		49980759 134.11 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.87899 0.87900 None None None None None None C22orf34|0.000859985|96.29%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only X rs1473666
dbSNP Clinvar 		7066051 3987.94 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 24 MOTIF[MA0162.1:Egr1] MODIFIER None 0.71417 0.71420 0.29206 None None None None None None HDHD1|0.006081367|84.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only X rs41311479
dbSNP Clinvar 		12993286 8381.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 38 MOTIF[MA0014.1:Pax5] MODIFIER None 0.01881 0.01881 None None None None None None TMSB4X|0.401177727|20.69%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 31238306 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0105.1:NFKB] MODIFIER None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only X rs2273065
dbSNP Clinvar 		102470814 100.91 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0095.1:Yy1] MODIFIER None 0.60397 0.60400 None None None None None None BEX4|0.007503312|83.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 1 . 714286 71.39 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None