SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

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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
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Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 67
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

PCDH11Y

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 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs2563389
dbSNP Clinvar
4968655 1381.48 T G PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.34057 1.00 0.00 0.50 None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs2524543
dbSNP Clinvar
4968368 1002.4 G T PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.47073 1.00 0.00 1.00 None None None None None None None

SLC9B1P1

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 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs373109292
dbSNP Clinvar
13500658 88.89 T A PASS 0/1 18 STOP_GAINED HIGH None None None None None None None SLC9B1P1|0.002112226|90.7%
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 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs199532657
dbSNP Clinvar
9306051 664.98 A G PASS 0/1 49 None None None None None None None None None TSPY3|0.002096214|90.74%,TSPY1|0.0011843|94.53%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 9321804 473.06 G C PASS 0/1 37 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 9342155 99.16 C A PASS 0/1 35 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79714661
dbSNP Clinvar
9354054 182.77 A C PASS 0/1 14 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs368030504
dbSNP Clinvar
9368022 22.83 T G PASS 0/1 6 None None None None None None None None None TSPY10|0.00212632|90.65%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs77755323
dbSNP Clinvar
13309667 1636.1 T C PASS 0/1 199 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs77544213
dbSNP Clinvar
13309668 1625.24 G A PASS 0/1 199 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs62599708
dbSNP Clinvar
13309804 321.2 C T PASS 0/1 77 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs62599738
dbSNP Clinvar
13310424 139.77 C T PASS 0/1 48 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs62599739
dbSNP Clinvar
13310444 147.77 T C PASS 0/1 47 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs80348613
dbSNP Clinvar
13310567 485.77 T C PASS 0/1 132 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs75006267
dbSNP Clinvar
13310576 471.77 A T PASS 0/1 152 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78841952
dbSNP Clinvar
13310590 437.77 C G PASS 0/1 175 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs74510459
dbSNP Clinvar
13310610 564.77 A G PASS 0/1 217 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78040942
dbSNP Clinvar
13310646 642.77 G T PASS 0/1 168 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs77463160
dbSNP Clinvar
13311477 408.13 T C PASS 0/1 105 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs74359393
dbSNP Clinvar
13311491 941.26 C T PASS 0/1 135 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs74890084
dbSNP Clinvar
13311501 1458.56 G A PASS 0/1 119 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs75728214
dbSNP Clinvar
13311579 1111.77 A G PASS 0/1 109 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78550346
dbSNP Clinvar
13311584 1642.81 G A PASS 0/1 107 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 13488067 99.55 TGG TGA PASS 0/1 12 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs776245137
dbSNP Clinvar
13488074 259.58 C G PASS 0/1 15 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs903486821
dbSNP Clinvar
13488089 98.15 C T PASS 0/1 26 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78531767
dbSNP Clinvar
13488100 34.77 C A,G PASS 0/2 28 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs112608166
dbSNP Clinvar
13488157 31.77 C T PASS 0/1 55 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs80229607
dbSNP Clinvar
13488176 34.77 A G PASS 0/1 36 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs74953116
dbSNP Clinvar
13488183 109.55 G A PASS 0/1 26 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs75512131
dbSNP Clinvar
13488215 218.85 C A,G PASS 1/2 16 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79942147
dbSNP Clinvar
13488224 216.56 G A PASS 0/1 28 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79233702
dbSNP Clinvar
13488242 268.45 G A PASS 0/1 49 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs750477341
dbSNP Clinvar
13488254 317.86 G A PASS 0/1 55 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 13488266 1092.65 GA GG PASS 0/1 60 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs113369311
dbSNP Clinvar
13488272 88.77 G A PASS 0/1 65 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs757179695
dbSNP Clinvar
13488273 272.5 C T PASS 0/1 65 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79189767
dbSNP Clinvar
13489356 1248.75 T G,A PASS 1/1 51 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs76489488
dbSNP Clinvar
13489359 186.86 G A PASS 0/1 50 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79293394
dbSNP Clinvar
13489367 649.45 T C PASS 0/1 39 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs999005805
dbSNP Clinvar
13489384 308.15 G A PASS 0/1 61 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs111804532
dbSNP Clinvar
13489393 1441.4 T A,G PASS 1/2 65 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs75169378
dbSNP Clinvar
13489425 52.77 T C PASS 0/1 78 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs75123822
dbSNP Clinvar
13489434 720.08 G A PASS 0/1 94 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs79167869
dbSNP Clinvar
13489475 35.77 T C PASS 0/1 85 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs111429450
dbSNP Clinvar
13489515 148.72 G A PASS 0/1 50 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs376970508
dbSNP Clinvar
13489528 594.44 C G PASS 0/1 32 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs879016544
dbSNP Clinvar
14107314 402.57 T C PASS 0/1 113 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs145852334
dbSNP Clinvar
13489557 87.28 T G PASS 0/1 79 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78280054
dbSNP Clinvar
13489569 123.56 G C,T PASS 0/1 94 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 13500604 85.21 A T PASS 0/1 18 None None None None None None None None None SLC9B1P1|0.002112226|90.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs77663237
dbSNP Clinvar
13524507 128.18 C T PASS 0/1 23 None None None None None None None None None SLC9B1P1|0.002112226|90.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs80011459
dbSNP Clinvar
13551883 339.77 T G PASS 0/1 32 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs62601224
dbSNP Clinvar
13551963 450.13 G A PASS 0/1 30 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs77866025
dbSNP Clinvar
13572999 90.79 A G PASS 0/1 9 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs73620059
dbSNP Clinvar
13573033 97.65 A C PASS 0/1 10 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs78037666
dbSNP Clinvar
13573108 110.27 G C PASS 0/1 11 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs199896924
dbSNP Clinvar
13629732 710.52 A G PASS 1/1 24 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 14954404 64.9 CT... CT... PASS 0/1 5 None None None None None None None None None USP9Y|0.030327795|69.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs2032636
dbSNP Clinvar
15027529 557.77 T G PASS 1/1 15 None None None 0.98459 0.98460 0.03193 None None None None None None DDX3Y|0.016183527|76.33%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 16860780 61.57 AA... AA... PASS 1/1 3 None None None None None None None None None NLGN4Y|0.004668477|86.25%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 20826397 64.96 CT... CT... PASS 1/2 4 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs10465460
dbSNP Clinvar
21154466 3125.77 T A PASS 0/1 219 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs2032673
dbSNP Clinvar
21894058 671.77 T C PASS 1/1 20 None None None 0.03974 0.03974 0.00041 None None None None None None KDM5D|0.002449528|89.81%
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y . 28494709 748.77 C T PASS 1/1 19 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs7893095
dbSNP Clinvar
9171956 293.78 A T PASS 1/1 8 None None None None None None None None None None
View 62388010_s7 mvar 62388010_S7.FREEBAYES Y rs141241792
dbSNP Clinvar
9234770 421.73 G A PASS 1/1 16 None None None None None None None None None None
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