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 CHR:

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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 		POLYPHEN2 SCORE

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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 54
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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_55.variant18 1 . 150254920 268.66 AG AGG,A PASS 0/1 16 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_55.variant18 2 . 169312327 31.89 T C PASS 0/1 8 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 3 . 119421721 64.63 T C PASS 0/1 14 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 3 . 119421726 67.64 T C PASS 0/1 13 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 3 rs1832667
dbSNP Clinvar 		194992039 428.66 G C PASS 1/1 7 MOTIF[MA0079.2:SP1] LOW None 0.82528 0.82530 None None None None None None None
View combined sample_55.variant18 4 rs1871048
dbSNP Clinvar 		71768079 2543.15 C G PASS 1/1 174 MOTIF[MA0079.2:SP1] LOW None 0.92871 0.92870 None None None None None None MOB1B|0.550310988|13.69%
View combined sample_55.variant18 6 rs7756216
dbSNP Clinvar 		27440932 1906.07 C T PASS 0/1 119 MOTIF[MA0079.2:SP1] LOW None 0.63718 0.63720 None None None None None None None
View combined sample_55.variant18 9 . 125703386 935.06 TC T PASS 0/1 94 MOTIF[MA0079.2:SP1] LOW None None None None None None None RABGAP1|0.569104615|13.04%
View combined sample_55.variant18 9 rs10987857
dbSNP Clinvar 		130830376 111.22 C G PASS 1/1 5 MOTIF[MA0079.2:SP1] LOW None 0.96865 0.96870 None None None None None None NAIF1|0.186386992|38.22%
View combined sample_55.variant18 10 rs2797078
dbSNP Clinvar 		27529549 2776.11 C A PASS 0/1 325 MOTIF[MA0079.2:SP1] LOW None 0.67712 0.67710 0.27464 None None None None None None ACBD5|0.116795914|47.98%
View combined sample_55.variant18 10 rs138779669
dbSNP Clinvar 		60028700 77.45 TG... T PASS 1/1 19 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_55.variant18 11 rs58692051
dbSNP Clinvar 		207410 797.86 C T PASS 0/1 49 MOTIF[MA0079.2:SP1] LOW None 0.24381 0.24380 None None None None None None BET1L|0.043373074|64.7%
View combined sample_55.variant18 11 rs570129974,rs143506576,rs34005490
dbSNP Clinvar 		13299258 611.54 A AG... PASS 0/1 24 MOTIF[MA0079.2:SP1] LOW None 0.48423 0.48420 None None None None None None ARNTL|0.533066944|14.45%
View combined sample_55.variant18 11 rs2306361
dbSNP Clinvar 		65374495 295.68 A C PASS 0/1 18 MOTIF[MA0079.2:SP1] MODIFIER None 0.54133 0.54130 None None None None None None MAP3K11|0.177911532|39.32%
View combined sample_55.variant18 11 rs3832725
dbSNP Clinvar 		77705734 298.1 C CG PASS 0/1 50 MOTIF[MA0079.2:SP1] LOW None 0.11247 None None None None None None None
View combined sample_55.variant18 13 rs372340308
dbSNP Clinvar 		100258863 949.62 CG C,... PASS 0/2 15 MOTIF[MA0079.2:SP1] LOW None None None None None None None None
View combined sample_55.variant18 15 . 75743968 61.59 A G PASS 0/1 20 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None SIN3A|0.742331076|7.32%
View combined sample_55.variant18 19 rs59501551
dbSNP Clinvar 		2289751 102.19 C T PASS 0/1 12 MOTIF[MA0079.2:SP1] LOW None 0.01577 0.01577 None None None None None None None
View combined sample_55.variant18 19 rs746401
dbSNP Clinvar 		46498827 545.28 G A PASS 0/1 18 MOTIF[MA0079.2:SP1] LOW None 0.30571 0.30570 None None None None None None CCDC61|0.034771259|67.54%
View combined sample_55.variant18 21 rs747164604
dbSNP Clinvar 		47648729 107.35 CC... CC... PASS 0/2 53 MOTIF[MA0079.2:SP1] LOW None None None None None None None LSS|0.346361251|24.39%
View combined sample_55.variant18 1 rs2742946
dbSNP Clinvar 		23886073 1596.56 T C PASS 0/1 43 MOTIF[MA0079.2:SP1] MODIFIER None 0.43510 0.43510 None None None None None None ID3|0.770651918|6.54%
View combined sample_55.variant18 1 rs3831933
dbSNP Clinvar 		186344876 822.17 A AG PASS 0/1 46 MOTIF[MA0079.2:SP1] LOW None 0.11062 0.11060 None None None None None None None
View combined sample_55.variant18 1 rs61822602
dbSNP Clinvar 		205782397 305.2 G T PASS 0/1 11 MOTIF[MA0079.2:SP1] LOW None 0.13738 0.13740 None None None None None None SLC41A1|0.476881169|16.9%
View combined sample_55.variant18 1 rs116709961
dbSNP Clinvar 		228327878 3812.44 G A PASS 0/1 339 MOTIF[MA0079.2:SP1] LOW None 0.02236 0.02236 None None None None None None GUK1|0.179011441|39.15%
View combined sample_55.variant18 3 rs587665591,rs554856662
dbSNP Clinvar 		50359246 74.61 AGGG AG... PASS 2/1 20 MOTIF[MA0079.2:SP1] LOW None 0.54892 0.54890 None None None None None None HYAL2|0.076953351|55.93%,TUSC2|0.476435823|16.94%
View combined sample_55.variant18 5 rs558468553,rs138082852
dbSNP Clinvar 		154237761 386.86 T TG... PASS 1/1 5 MOTIF[MA0079.2:SP1] LOW None 0.77137 0.77140 None None None None None None FAXDC2|0.592395582|12.05%,CNOT8|0.595418985|11.93%
View combined sample_55.variant18 6 rs771342556
dbSNP Clinvar 		32095996 362.61 A C DRAGENHardSNP 0/1 107 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None ATF6B|0.118552355|47.66%
View combined sample_55.variant18 6 rs2297333
dbSNP Clinvar 		44355423 3204.68 C T PASS 1/1 126 MOTIF[MA0079.2:SP1] LOW None 0.53534 0.53530 None None None None None None CDC5L|0.899227111|3.44%
View combined sample_55.variant18 6 rs374669878
dbSNP Clinvar 		125623268 862.52 C CT... PASS 0/1 29 MOTIF[MA0079.2:SP1] LOW None 0.33866 0.33870 None None None None None None HDDC2|0.099364947|51.3%
View combined sample_55.variant18 6 rs62432878
dbSNP Clinvar 		125623274 189.9 C T PASS 0/1 28 MOTIF[MA0079.2:SP1] LOW None 0.22005 0.22000 None None None None None None HDDC2|0.099364947|51.3%
View combined sample_55.variant18 7 rs3215325,rs397840079
dbSNP Clinvar 		99156252 1642.78 AG A PASS 0/1 71 MOTIF[MA0079.2:SP1] LOW None None None None None None None ZNF655|0.070094508|57.47%
View combined sample_55.variant18 9 rs10814131
dbSNP Clinvar 		34666176 1241.56 G A PASS 1/1 47 MOTIF[MA0079.2:SP1] LOW None 0.91753 0.91750 None None None None None None None
View combined sample_55.variant18 11 rs11227869
dbSNP Clinvar 		67399914 1107.91 G T PASS 0/1 122 MOTIF[MA0079.2:SP1] LOW None 0.18211 0.18210 0.17519 None None None None None None TBX10|0.045979787|63.92%
View combined sample_55.variant18 14 . 64854718 153.52 G C PASS 0/1 17 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 14 . 64854723 34.54 A C PASS 0/1 19 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 14 . 64854734 124.54 G C PASS 0/1 21 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None None
View combined sample_55.variant18 18 rs145493642,rs56772580
dbSNP Clinvar 		77794081 159.18 G GC PASS 1/1 23 MOTIF[MA0079.2:SP1] LOW None 0.20407 0.20410 None None None None None None None
View combined sample_55.variant18 19 . 49122450 32.19 T G DRAGENHardSNP 0/1 197 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None RPL18|0.160084987|41.52%
View combined sample_55.variant18 1 rs6665102
dbSNP Clinvar 		201977600 110.05 C A PASS 0/1 11 MOTIF[MA0079.2:SP1] MODIFIER None 0.72624 0.72620 None None None None None None ELF3|0.687822178|8.88%
View combined sample_55.variant18 1 rs6690695
dbSNP Clinvar 		224301749 325.85 C T PASS 1/1 85 MOTIF[MA0079.2:SP1] LOW None 0.45028 0.45030 None None None None None None None
View combined sample_55.variant18 2 rs773809225
dbSNP Clinvar 		61765175 853.98 GGCC GC,G PASS 0/1 23 MOTIF[MA0079.2:SP1] LOW None None None None None None None XPO1|0.727490728|7.74%
View combined sample_55.variant18 4 rs13119394
dbSNP Clinvar 		41216675 660.61 A C PASS 0/1 26 MOTIF[MA0079.2:SP1] MODIFIER None 0.10643 0.10640 None None None None None None APBB2|0.401070014|20.7%
View combined sample_55.variant18 6 rs3747526
dbSNP Clinvar 		25619581 223.49 C A,G PASS 0/2 29 MOTIF[MA0079.2:SP1] LOW None 0.00859 0.24520 None None None None None None LRRC16A|0.106228514|49.94%
View combined sample_55.variant18 7 . 72993106 49.04 G GA... PASS 0/1 0 MOTIF[MA0079.2:SP1] LOW None None None None None None None TBL2|0.259060134|30.81%
View combined sample_55.variant18 7 rs80040741
dbSNP Clinvar 		100608929 61.61 G T PASS 0/1 65 MOTIF[MA0079.2:SP1] MODIFIER None 0.00040 0.00040 None None None None None None MUC3A|0.001683398|91.94%
View combined sample_55.variant18 10 rs72449284
dbSNP Clinvar 		1095412 2470.34 TC CC... PASS 2/1 105 MOTIF[MA0079.2:SP1] LOW None 0.88918 0.88920 None None None None None None None
View combined sample_55.variant18 11 rs3927803
dbSNP Clinvar 		72939237 282.29 T G PASS 1/1 3 MOTIF[MA0079.2:SP1] MODIFIER None None None None None None None P2RY2|0.154569341|42.35%
View combined sample_55.variant18 16 rs2302176
dbSNP Clinvar 		2014954 665.87 C T PASS 0/1 8 MOTIF[MA0079.2:SP1] LOW None 0.43830 0.43830 None None None None None None None
View combined sample_55.variant18 16 rs36021060
dbSNP Clinvar 		23521874 145.29 G GC PASS 0/1 12 MOTIF[MA0079.2:SP1] LOW None 0.67532 0.67530 None None None None None None GGA2|0.075311277|56.21%
View combined sample_55.variant18 16 rs2445079
dbSNP Clinvar 		84538417 745.89 C G PASS 1/1 17 MOTIF[MA0079.2:SP1] MODIFIER None 0.98123 0.98120 None None None None None None TLDC1|0.002246003|90.29%
View combined sample_55.variant18 17 rs112877732
dbSNP Clinvar 		81009813 146.03 C A PASS 0/1 22 MOTIF[MA0079.2:SP1] LOW None 0.14936 0.14940 None None None None None None None
View combined sample_55.variant18 21 rs9983409
dbSNP Clinvar 		32931422 385.27 C G PASS 0/1 8 MOTIF[MA0079.2:SP1] LOW None 0.62640 0.62640 None None None None None None TIAM1|0.527869798|14.65%
View combined sample_55.variant18 22 rs2070766
dbSNP Clinvar 		24237221 1955.05 C G PASS 1/1 181 MOTIF[MA0079.2:SP1] LOW None 0.17352 0.17350 0.13856 None None None None None None MIF|0.352183586|23.93%
View combined sample_55.variant18 22 rs35920692
dbSNP Clinvar 		39916626 575.27 T TC PASS 0/1 23 MOTIF[MA0079.2:SP1] LOW None 0.27736 0.27740 None None None None None None ATF4|0.396217257|21.01%
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