SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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 . 133022261 10.48 C A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99928780 10.65 C G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 121325602 10.66 A G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 45892148 10.66 A G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 132123221 10.98 T C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 45073273 11.28 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 29354743 11.64 GC G PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 35010391 12.07 T C PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 789706 12.18 T A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99394771 12.37 C A PASS 0/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 54201353 12.41 T A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98972008 12.64 C A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 95364164 12.64 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 148415724 12.65 C A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 108150795 12.7 A AT PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 156734068 12.79 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100996259 12.89 C T PASS 0/1 14 None None None -0.23 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 43640325 12.94 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100124304 13.0 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142161324 13.04 C G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5132391 13.09 T G PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92165186 13.17 C A PASS 0/1 10 None None None -0.15 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 23686267 13.19 CT C PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44034924 13.41 T C PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128855022 13.63 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38831124 13.78 T A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 155298124 13.91 C T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 32868166 13.94 T C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 105167577 14.1 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2242378 14.24 C T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141005999 14.25 A G PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 21735524 14.83 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 4815226 14.87 G T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1447877 15.04 G A PASS 0/1 7 None None None None None None None None None None

ZDHHC4

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 . 6623057 15.43 T C PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.73 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 . 13907616 15.6 G T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 152014879 15.63 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100111365 15.63 C G PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100310359 15.65 G A PASS 0/1 7 None None None -0.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102473558 15.79 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102347390 15.83 C T PASS 0/1 25 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 . 6674536 16.13 G T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6673497 16.2 C T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6779793 16.27 C T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87422007 16.44 C T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 111984485 16.52 T A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92487597 16.63 A T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 121441462 16.65 C A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99202961 16.89 A T PASS 0/1 10 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 . 45074670 17.34 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1055589 17.38 G T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 55166150 17.41 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87411847 17.63 TA T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99390266 18.1 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138001911 18.38 C A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 50495466 18.69 T A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77697111 18.89 T G PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 104736510 19.03 C A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64336865 19.08 G GT PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 18162444 19.21 C A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139060719 19.21 G C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142143962 19.32 A G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150974641 19.33 T C PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2919137 19.44 A T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77059354 19.66 T C PASS 0/1 5 None None None 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 . 22812447 20.01 G A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 94553296 20.11 TA T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140475228 20.25 A G PASS 0/1 8 None None None None None None None None None None

AP1S1

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 . 100797869 20.35 T C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.00 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 . 38909024 20.63 G C PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142084778 20.89 AC A PASS 0/1 11 None None None None None None None None None None

CYP2W1

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 . 1028225 21.18 G A PASS 0/1 9 None None None 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 . 106907136 21.21 A G PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128257599 21.34 A T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102538297 21.45 T A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150521061 21.58 AT A PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150625154 21.72 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 14580734 21.73 A G PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140518305 21.89 C A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 75943953 21.91 TA T PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 861198 22.28 C G PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138769068 22.63 G C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77894146 22.64 TA T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128652054 22.65 G T PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77012056 22.9 T C PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 108470371 23.09 C CA... PASS 1/1 0 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 3158442 23.46 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64976896 23.63 C A PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38909019 23.63 A C PASS 0/1 1 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 . 94644556 24.0 G A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 74174655 24.13 G A PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 32838274 24.81 G T PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2216499 24.87 T C PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 6855649 25.14 T G PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142085767 25.24 C G PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128805143 25.24 C T PASS 0/1 4 None None None None None None None None None None