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GROUPS:

SAVED GENE LIST:

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CLINICAL GENOMICS DATABASE:
HGMD:
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DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, MAD1L1, NME8, NPC1L1, PEX1, PLOD3, PMS2, PTPN12, RELN, SFRP4, TAF6, TFR2, WDR60,
AP1S1 MEDNIK syndrome, 609313 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FAM20C Raine syndrome, 259775 (3)
FLNC Myopathy, myofibrillar, 5, 609524 (3)
Myopathy, distal, 4, 614065 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Cardiomyopathy, familial hypertrophic, 26 (3)
GARS Neuropathy, distal hereditary motor, type VA, 600794 (3)
Charcot-Marie-Tooth disease, type 2D, 601472 (3)
HOXA13 Hand-foot-uterus syndrome, 140000 (3)
Guttmacher syndrome, 176305 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MAD1L1 Prostate cancer, somatic, 176807 (3)
Lymphoma, somatic (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Heimler syndrome 1, 234580 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN {Epilepsy, familial temporal lobe, 7}, 616436 (3)
Lissencephaly 2 (Norman-Roberts type), 257320 (3)
SFRP4 Pyle disease, 265900 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)

Genes at Clinical Genomics Database

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, NME8, NPC1L1, PEX1, PLOD3, PMS2, RELN, SERPINE1, TFR2, WDR60,
AP1S1 MEDNIK syndrome
DNAH11 Ciliary dyskinesia, primary, 7
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
LAMB1 Lissencephaly 5
NME8 Ciliary dyskinesia, primary, 6
NPC1L1 Ezetimibe, nonresponse to
PEX1 Heimler syndrome 1
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
SERPINE1 Plasminogen activator inhibitor-1 deficiency
TFR2 Hemochromatosis, type 3
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 5928
Number of Genes: 73

Export to: CSV
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 23 recalibrated filtered postcgp gqfiltered 7 . 159142337 12444.14 CT CT... PASS 0/1 5 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159138084 1321.59 G A PASS 1/1 42 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159138060 1805.46 T C PASS 1/1 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159137938 1838.59 T C PASS 1/1 60 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159110050 4224.98 A G PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159109876 8863.34 G A PASS 0/1 151 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159109734 16442.5 T C PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159103933 2855.31 C G PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159103826 28965.8 G A PASS 1/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159103745 17698.9 G A PASS 0/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159059113 1772.92 C T PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159058543 263289.76 T G PASS 1/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159042940 34647.54 A G PASS 1/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159042826 29.26 A C PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159042821 6686.13 A C PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159036594 9845.41 T C PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159034710 41815.19 A G PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 159028278 1086.8 C T PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158946187 7973.57 A C PASS 1/1 275 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158946158 6691.58 T C PASS 1/1 230 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158945920 1702.14 G T PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934612 2790.83 G T PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934585 6198.85 T A PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934539 611.63 C A PASS 0/1 40 None None None 6.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934324 36889.7 C CT PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934107 70978.71 T TC PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158930323 7420.22 T C PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158926393 32406.03 C T PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158926102 8167.51 A G PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158922528 59429.81 A G PASS 1/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158879785 132646.9 C G PASS 1/1 44 None None None -0.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158876541 19.7 A T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158799160 93888.41 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158797821 32130.39 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158793447 9744.85 T C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158773526 33648.18 C T PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158773447 61888.34 T C PASS 0/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158767930 19368.68 A C PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158763015 42358.31 C T PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158759707 35598.14 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158759640 52975.11 C G PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158735479 339596.41 G A PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158735467 322684.41 C G PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158687582 3453.59 T C PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683579 11225.77 T C PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683456 145010.81 G A PASS 1/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683414 38815.5 C T PASS 1/1 55 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158680647 68187.34 G T PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158675745 18710.47 G A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158664766 31843.91 A G PASS 1/1 67 None None None None None None None None None None

WDR60

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 23 recalibrated filtered postcgp gqfiltered 7 . 158664018 20867.3 C T PASS 1/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None
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 23 recalibrated filtered postcgp gqfiltered 7 . 158662397 112956.34 G A PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158658199 15.89 G T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158644232 4280.35 T C PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158631435 11683.94 C T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158622998 1216.48 T A PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158622341 10029.36 T G PASS 0/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158591898 514.55 T C PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158591613 980.69 CTGTG C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158587744 70.74 G T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532880 22924.32 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532646 54968.32 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532624 48122.32 C A PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532618 45337.36 C CAA PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158263424 366.23 G GCA PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158263158 308.35 TCA T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158204981 2519.66 C A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167219 82148.43 A G PASS 1/1 99 None None None -1.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167203 39001.75 C T PASS 1/1 99 None None None 1.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167187 38678.75 C T PASS 1/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166944 8747.79 G A PASS 1/1 118 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166928 6768.89 C T PASS 1/1 122 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166814 3260.73 T C PASS 1/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138571 7010.83 G C PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138452 27380.58 C T PASS 0/1 65 None None None 1.55 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138427 27951.58 A G PASS 0/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138287 15038.58 C G PASS 0/1 117 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138282 13283.82 C T PASS 0/1 125 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138093 1452.76 A G PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136602 36355.84 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136554 9041.52 G GA PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136531 8137.49 G A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110846 3418.67 A G PASS 0/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110812 2693.76 C T PASS 0/1 89 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110786 6347.7 A G PASS 1/1 87 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158081283 57252.02 T C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158008207 2233.62 C T PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158008146 1226.42 AGT A PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157898831 18114.64 T C PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669772 1005.18 A G PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669733 1262.77 T C PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669425 2062.41 G GCA PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621603 13843.82 G A PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621591 15154.82 T C PASS 0/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621372 237232.54 G A PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621336 22522.7 T C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157614127 1788.47 A C PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157577996 71748.2 C G PASS 1/1 96 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157576872 7212.68 C G PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157569042 67961.89 T C PASS 1/1 109 None None None None None None None None None None