SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

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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 . 100959888 1528315.86 T C PASS 0/1 121 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959891 830465.83 C T PASS 0/1 122 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959889 792266.83 T G PASS 0/1 121 None None None -2.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87354399 773653.52 A G PASS 1/1 97 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101034805 755180.67 T C PASS 0/1 477 None None None -1.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959915 661771.83 T G PASS 0/1 120 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959965 619491.4 G C PASS 0/1 139 None None None -2.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142870189 617986.63 G A PASS 1/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92501975 609365.41 G T PASS 1/1 129 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100813656 604737.78 T C PASS 1/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959988 564255.83 G T PASS 0/1 149 None None None -0.65 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960006 558348.83 T C PASS 0/1 154 None None None -2.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135362951 535978.89 T C PASS 1/1 12 None None None -0.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 8086334 517032.01 C T PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959497 514367.4 T C PASS 0/1 215 None None None -2.83 None None None None None None None

RABL5

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 . 100959649 512947.83 G A PASS 0/1 267 SYNONYMOUS_CODING LOW 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959713 509250.83 C T PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.81 -0.58 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959644 508957.83 C A PASS 0/1 263 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.00 -0.13 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959720 505167.83 A T PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.20 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959714 504348.83 T C PASS 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959664 492321.83 G T PASS 0/1 260 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 -1.34 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 . 31815964 489108.89 G A PASS 1/1 166 None None None None None None None None None None

RABL5

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 . 100959711 488924.83 T A PASS 0/1 206 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.93 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 . 100959537 462277.83 A T PASS 0/1 221 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959558 455870.83 T C PASS 0/1 225 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959517 449132.83 A G PASS 0/1 224 None None None -1.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959533 444421.83 C T PASS 0/1 222 None None None 0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959563 440647.83 C T PASS 0/1 228 None None None -0.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38774111 437343.89 C T PASS 1/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959600 434725.83 C T PASS 0/1 241 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959508 434471.87 C CCAA PASS 0/1 212 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959590 434334.83 C T PASS 0/1 243 None None None -0.23 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101038078 426898.71 C G PASS 0/1 375 None None None -0.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82952172 406710.43 T TTCA PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102227319 402566.9 A G PASS 1/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 154887737 398393.9 G A PASS 1/1 124 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144129604 397925.1 C G PASS 1/1 122 None None None -0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960182 393428.4 C T PASS 0/1 126 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959449 377823.83 T G PASS 0/1 196 None None None -2.12 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959437 371700.83 T C PASS 0/1 188 None None None -2.55 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959436 367727.83 A G PASS 0/1 188 None None None -3.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 50544037 367107.4 T C PASS 1/1 81 None None None -0.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101038481 364136.09 A G PASS 0/1 283 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 144129636 362623.27 ACTT A PASS 1/1 103 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960229 358854.83 C G PASS 0/1 128 None None None -1.83 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 134183755 355031.9 C T PASS 1/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960209 349978.83 C T PASS 0/1 128 None None None None None None None None None None

DNAH11

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 . 21600787 348663.97 A G PASS 1/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE -0.26 None None rs10224537 2 not_specified 1 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 . 5294838 346543.07 G T PASS 0/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960242 344286.83 C G PASS 0/1 133 None None None -1.45 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 . 144129510 333017.1 G T PASS 1/1 101 None None None 0.26 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960255 329229.83 A G PASS 0/1 129 None None None -1.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960515 327887.89 C A PASS 0/1 149 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 71420897 325271.14 C CT PASS 1/1 67 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87403297 323039.81 A G PASS 1/1 34 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 . 100960261 319790.83 T C PASS 0/1 126 None None None -2.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 4174245 318002.15 T C PASS 0/1 109 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 75883744 313933.94 A G PASS 0/1 92 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960407 303246.4 T C PASS 0/1 159 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960421 303178.4 T C PASS 0/1 158 None None None -1.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 80748859 302250.16 T C PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 4174343 300659.12 A G PASS 0/1 74 None None None -0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98961257 300343.81 G C PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960598 299686.83 G C PASS 0/1 219 None None None -0.33 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142863919 299425.4 G T PASS 1/1 87 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960122 298553.45 C T PASS 0/1 148 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960609 298366.83 C T PASS 0/1 231 None None None 6.04 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960610 295613.83 A G PASS 0/1 229 None None None -0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 113878447 295463.4 A T PASS 1/1 68 None None None -1.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100959051 293891.09 T C PASS 0/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 80745026 286245.29 A G PASS 1/1 73 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 117810738 285707.11 A C PASS 0/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960283 285297.83 T C PASS 0/1 124 None None None -2.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 4174308 281519.15 T C PASS 0/1 96 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 34153150 280949.34 G C PASS 0/1 147 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 113879741 279071.4 C T PASS 1/1 52 None None None 0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 122302778 278963.93 G GACA PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 37315986 278163.93 C CT PASS 1/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960530 277583.83 T C PASS 0/1 164 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 113084470 277473.2 A G PASS 1/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs780134331
dbSNP
128493930 276499.94 G A PASS 1/1 35 None None None -0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99916794 274033.51 A C PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129206487 271743.09 G C PASS 0/1 128 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960528 271728.83 A G PASS 0/1 160 None None None -1.77 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101035140 265115.0 T A PASS 0/1 514 None None None -0.77 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 . 80748832 258923.16 T C PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5987144 258786.08 T C PASS 0/1 102 None None None -0.59 None None rs2228006 2 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135164528 257794.94 T A PASS 1/1 144 None None None 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38830108 257002.95 C T PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960546 252347.83 C T PASS 0/1 177 None None None -0.15 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92002992 251720.41 C T PASS 1/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135187023 251081.99 C T PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100095714 250413.9 T C PASS 1/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100149507 249291.76 G A PASS 0/1 135 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138771243 247655.02 A G PASS 0/1 28 None None None 0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100960307 246557.87 C T PASS 0/1 127 None None None -0.26 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 21588619 245947.9 C T PASS 1/1 84 None None None None None None None None None None