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GROUPS:

SAVED GENE LIST:

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INDIVIDUALS:

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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
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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 . 117648389 300.34 G A PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 117198257 1448.03 G A PASS 0/1 53 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 . 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 . 23152045 71166.3 G A PASS 0/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5447828 1186.67 G A PASS 0/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 23770898 137443.85 G A PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 148266999 116100.02 G A PASS 1/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5489252 81114.57 G A PASS 0/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140518664 42946.71 C A PASS 1/1 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 23771226 101320.12 G A PASS 1/1 5 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 . 23832790 754.8 T A PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140456923 2800.23 G A PASS 1/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140398304 222.74 G A PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140382563 58540.01 G A PASS 1/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99040293 24353.45 ACG A PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5490127 14190.95 G A PASS 0/1 137 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77618504 220847.07 G A PASS 0/1 74 None None None 1.83 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140351291 63130.3 G A PASS 1/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 24663679 100981.75 G A PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151876646 6139.3 G A PASS 0/1 152 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 147903512 24608.56 C A PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 24702934 16374.29 G A PASS 0/1 11 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 . 140110996 19309.55 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 24708291 31342.91 G A PASS 0/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 890971 11159.39 G A PASS 0/1 127 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 147562013 11848.66 G A PASS 0/1 36 None None None None None None None None None None

MPP6

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 . 24718946 30730.77 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 . 140091309 12166.75 G A PASS 0/1 32 None None None None None None None None None None

TECPR1

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 . 97858418 20653.88 G A PASS 0/1 41 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 . 77611123 833.57 G A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5491196 11206.72 G A PASS 1/1 128 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140026321 3064.4 G A PASS 0/1 91 None None None 0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 147300111 131983.02 T A PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782254 563.07 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139540246 968.27 G A PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 892323 17106.28 G A PASS 0/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139483317 5833.4 G A PASS 0/1 77 None None None 2.96 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 146024859 912.36 G A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5502026 10588.65 G A PASS 0/1 54 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 25151425 6795.14 G A PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 25154999 44723.49 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782561 266.41 G A PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139392571 431.2 T A PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139392494 1340.99 C A PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2525634 22781.35 C A PASS 0/1 89 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 26364451 19853.85 G A PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144403781 276.52 AC... A PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144401899 63803.09 G A PASS 0/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139187599 71526.16 C A PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 26371813 471.63 T A PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139142167 48152.58 G A PASS 0/1 65 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

FBXL18

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 . 5529696 7178.93 G A PASS 0/1 166 SYNONYMOUS_CODING LOW 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 . 27100259 1827.44 G A PASS 1/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151557376 30313.24 G A PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139133998 18598.22 G A PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5530491 181.75 AG... A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138911318 18501.84 G A PASS 0/1 106 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138899094 244920.97 C A PASS 1/1 127 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5530603 25.69 G A PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27163520 110165.15 G A PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5606680 38.44 C A PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138861250 6564.36 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 785857 1187.89 G A PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27538786 1491.78 G A PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 786465 825.56 G A PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144374835 119.41 G A PASS 0/1 19 None None None 5.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27543164 47508.01 G A PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144371387 47279.47 G A PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138797738 385.57 C A PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27662771 265.42 C A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27740146 473.48 G A PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 155964873 434.48 G A PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5711619 10156.8 G A PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5729519 6591.57 G A PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138759534 9588.68 G A PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 896576 719.83 G A PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42909439 2526.72 G A PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138747778 5433.37 T A PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42911916 1144.72 G A PASS 0/1 14 None None None 1.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42912211 1189.5 G A PASS 0/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138729008 42160.75 G A PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42916719 559.44 T A PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42916748 227.18 C A PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5730823 4419.4 G A PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77605058 138.75 C A PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5730889 630.57 G A PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138671917 2430.96 G A PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138671914 2383.57 AG A PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42937492 123622.18 G A PASS 0/1 55 None None None None None None None None None None

SUN1

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 rs756527187
dbSNP
899993 20739.42 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.19 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 . 138625884 33708.15 G A PASS 1/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151555997 3342.02 C A PASS 1/1 122 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151519267 473.8 G A PASS 1/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144285852 4085.29 C A PASS 0/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144282750 1209.35 G A PASS 0/1 92 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5753114 5660.97 G A PASS 0/1 11 None None None None None None None None None None