SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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
RESET FILTER | Save Config | Save Analysis

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 . 29504682 9987.25 CT CT... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83407051 116092.69 C G PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83405861 37186.69 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83405583 32997.69 T G PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83405438 51845.69 T A PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83402871 14940.2 T C PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83400122 95204.05 C T PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83399964 75127.96 T G PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83399943 1982.35 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83162086 952.71 A C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83156403 3260.7 TAAA TA... PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83155781 23244.63 T C PASS 0/1 105 None None None 1.33 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83154701 62616.06 G T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83135730 17.23 C G PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82914670 1092.63 T C PASS 0/1 88 None None None 2.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82879884 151.77 A G PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82867965 23.76 T C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82136680 824.58 C CA PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82136546 1870.13 C CT... PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82038152 8798.36 C T PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82012254 14777.25 GAA GA... PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82012184 477.63 G A PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 81997040 18387.9 G A PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 81974629 8432.45 AT A PASS 0/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102282795 2742.49 G T PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102281805 501.63 G A PASS 0/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102249048 4562.29 C T PASS 0/1 91 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102248841 1024.05 G A PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102239223 3611.53 T C PASS 0/1 35 None None None None None None None None None None

SPDYE2

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 . 102201571 102400.36 A G PASS 0/1 80 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 . 102200256 10900.31 A AT PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102193869 20166.8 G A PASS 0/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102158757 447.72 T G PASS 0/1 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102115304 80366.23 G A PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102115284 9805.57 C T PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102111780 16216.58 A G PASS 0/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102111585 17080.82 T C PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102097547 77233.1 T TTC PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102097330 109817.07 C A PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102097326 105235.07 T G PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101624155 47855.8 T C PASS 0/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101624035 26.2 AAAT A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101623099 10953.27 T C PASS 0/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101613795 15433.5 T C PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101613553 35433.58 T C PASS 0/1 97 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101557767 845.12 A C PASS 0/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101557485 7909.92 C T PASS 0/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101557447 16177.82 G A PASS 0/1 70 None None None 2.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101557314 6531.94 A G PASS 0/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101553475 13982.53 A G PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101553207 14651.71 T C PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101549376 294.59 T G PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101549314 497.01 A G PASS 0/1 79 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101545571 7760.74 T C PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101543909 562.17 G A PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101539827 11659.47 T C PASS 0/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101539759 539.79 A C PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101533250 661.63 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101447550 1521.84 G A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101363101 3024.57 C T PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101363095 3015.35 C T PASS 0/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101362952 2882.97 C T PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101362949 2850.43 T G PASS 0/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101362942 2766.37 C T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101362935 2671.89 G C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101315043 3301.39 A C PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101234175 20461.59 T C PASS 0/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101232491 9660.58 T G PASS 0/1 149 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101222566 35697.59 T C PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101218171 23868.58 T C PASS 0/1 112 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101217932 866.05 T C PASS 0/1 41 None None None 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101217355 413.49 T C PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101217120 586.21 C T PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs528640024
dbSNP
101215012 2632.57 C T PASS 0/1 9 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101212082 553.6 G C PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101209950 591.03 C T PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101209892 1101.5 T C PASS 0/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101207963 620.94 G A PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101206767 1754.12 A G PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101206523 3784.76 G A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101205775 521.38 C T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101205771 524.98 G A PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101161450 1533.76 T C PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101161261 3031.83 T G PASS 0/1 124 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101161149 837.34 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101160959 864.82 T TA... PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101160859 1594.12 C T PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101160429 12010.6 C T PASS 0/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101160333 3514.21 C T PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101159618 32.63 CT C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101158859 4353.15 T C PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101157354 3664.18 G A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101138334 229.76 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101136895 25216.75 A G PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101131806 134922.34 AAAC AA... PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101130178 8448.71 T C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101089819 2624.48 G A PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101089040 39206.67 C T PASS 0/1 292 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101088548 58720.08 T C PASS 0/1 87 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101088224 4004.04 C G PASS 0/1 35 None None None None None None None None None None