5-141243616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243616
    reference: chr 5
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2214C>T
  hgvsp: ENST00000536585.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2244C>T
  hgvsp: ENST00000456271.1:c.2244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2280C>T
  hgvsp: ENST00000287008.3:c.2280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1508C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2280C>T
  hgvsp: ENST00000394536.3:c.2280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2313C>T
  hgvsp: ENST00000357517.5:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1399C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4518C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8942
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn760Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-141243626-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243626
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243626
    reference: chr 5
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2204C>A
  hgvsp: ENSP00000438825.1:p.Ala735Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2270C>A
  hgvsp: ENSP00000287008.3:p.Ala757Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4508C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2234C>A
  hgvsp: ENSP00000403497.1:p.Ala745Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2270C>A
  hgvsp: ENSP00000378043.3:p.Ala757Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1389C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2303C>A
  hgvsp: ENSP00000350122.5:p.Ala768Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1498C>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala757Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-141243645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243645
    reference: chr 5
allele count: 2
allele frequency: 1.662759182587586e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4489G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2251G>A
  hgvsp: ENSP00000287008.3:p.Glu751Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2185G>A
  hgvsp: ENSP00000438825.1:p.Glu729Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1370G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2284G>A
  hgvsp: ENSP00000350122.5:p.Glu762Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1479G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2251G>A
  hgvsp: ENSP00000378043.3:p.Glu751Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2215G>A
  hgvsp: ENSP00000403497.1:p.Glu739Lys
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu751Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-141243646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243646
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243646
    reference: chr 5
allele count: 47052
allele frequency: 3.915257622154174e-1
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2283T>C
  hgvsp: ENST00000357517.5:c.2283T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4488T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2184T>C
  hgvsp: ENST00000536585.1:c.2184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2250T>C
  hgvsp: ENST00000394536.3:c.2250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2250T>C
  hgvsp: ENST00000287008.3:c.2250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2214T>C
  hgvsp: ENST00000456271.1:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1369T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1478T>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 865
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.75e1
  variant carriers: 5848
genotype depth: GenotypeDepth
  all individuals: 13729
  bin: 2.25e1
  variant carriers: 1779
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.75e1
  variant carriers: 460
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 5563
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 4.75e1
  variant carriers: 4474
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 5.25e1
  variant carriers: 3220
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 6.25e1
  variant carriers: 1358
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 616
genotype depth: GenotypeDepth
  all individuals: 9915
  bin: 2.75e1
  variant carriers: 3277
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 343
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.75e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.25e1
  variant carriers: 5006
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 754
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.75e1
  variant carriers: 2028
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 203
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 9.75e1
  variant carriers: 916
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 361
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.75e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 14550
  bin: 6.25e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 8.25e1
  variant carriers: 474
hgvs: p.Ala750Ala
num of homozygotes: 9809
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-141243660-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243660
    reference: chr 5
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2236T>A
  hgvsp: ENSP00000287008.3:p.Ser746Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1464T>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4474T>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2269T>A
  hgvsp: ENSP00000350122.5:p.Ser757Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2170T>A
  hgvsp: ENSP00000438825.1:p.Ser724Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2200T>A
  hgvsp: ENSP00000403497.1:p.Ser734Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1355T>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2236T>A
  hgvsp: ENSP00000378043.3:p.Ser746Thr
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20439
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser746Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-141243672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243672
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243672
    reference: chr 5
allele count: 2
allele frequency: 1.673388108904098e-5
allele num: 119518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1452G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2158G>A
  hgvsp: ENSP00000438825.1:p.Glu720Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2188G>A
  hgvsp: ENSP00000403497.1:p.Glu730Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1343G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2224G>A
  hgvsp: ENSP00000378043.3:p.Glu742Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2257G>A
  hgvsp: ENSP00000350122.5:p.Glu753Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4462G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2224G>A
  hgvsp: ENSP00000287008.3:p.Glu742Lys
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu742Lys
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-141243673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243673
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243673
    reference: chr 5
allele count: 30
allele frequency: 2.508864655114739e-4
allele num: 119576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2223C>G
  hgvsp: ENST00000394536.3:c.2223C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4461C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2256C>G
  hgvsp: ENST00000357517.5:c.2256C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2157C>G
  hgvsp: ENST00000536585.1:c.2157C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1451C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2187C>G
  hgvsp: ENST00000456271.1:c.2187C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2223C>G
  hgvsp: ENST00000287008.3:c.2223C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1342C>G
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11951
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6441
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala741Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-141243681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243681
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243681
    reference: chr 5
allele count: 1
allele frequency: 8.381527114240214e-6
allele num: 119310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2179G>A
  hgvsp: ENSP00000403497.1:p.Val727Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2248G>A
  hgvsp: ENSP00000350122.5:p.Val750Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2215G>A
  hgvsp: ENSP00000287008.3:p.Val739Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2149G>A
  hgvsp: ENSP00000438825.1:p.Val717Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2215G>A
  hgvsp: ENSP00000378043.3:p.Val739Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4453G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1443G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1334G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val739Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

5-141243692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243692
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243692
    reference: chr 5
allele count: 13
allele frequency: 1.091391440132982e-4
allele num: 119114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1432C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4442C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2204C>T
  hgvsp: ENSP00000287008.3:p.Thr735Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2204C>T
  hgvsp: ENSP00000378043.3:p.Thr735Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1323C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2168C>T
  hgvsp: ENSP00000403497.1:p.Thr723Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2138C>T
  hgvsp: ENSP00000438825.1:p.Thr713Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2237C>T
  hgvsp: ENSP00000350122.5:p.Thr746Met
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr735Met
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

5-141243704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243704
    reference: chr 5
allele count: 30
allele frequency: 2.522407385608825e-4
allele num: 118934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1420G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2156G>A
  hgvsp: ENSP00000403497.1:p.Arg719His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2126G>A
  hgvsp: ENSP00000438825.1:p.Arg709His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2192G>A
  hgvsp: ENSP00000287008.3:p.Arg731His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1311G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2192G>A
  hgvsp: ENSP00000378043.3:p.Arg731His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2225G>A
  hgvsp: ENSP00000350122.5:p.Arg742His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4430G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg731His
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-141243705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243705
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243705
    reference: chr 5
allele count: 2
allele frequency: 1.680870018321483e-5
allele num: 118986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2191C>T
  hgvsp: ENSP00000287008.3:p.Arg731Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2224C>T
  hgvsp: ENSP00000350122.5:p.Arg742Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2155C>T
  hgvsp: ENSP00000403497.1:p.Arg719Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2191C>T
  hgvsp: ENSP00000378043.3:p.Arg731Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1310C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2125C>T
  hgvsp: ENSP00000438825.1:p.Arg709Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4429C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1419C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19172
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg731Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-141243714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243714
    reference: chr 5
allele count: 1
allele frequency: 8.406893652795292e-6
allele num: 118950
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2182C>T
  hgvsp: ENSP00000287008.3:p.Pro728Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1301C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2182C>T
  hgvsp: ENSP00000378043.3:p.Pro728Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1410C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2116C>T
  hgvsp: ENSP00000438825.1:p.Pro706Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2215C>T
  hgvsp: ENSP00000350122.5:p.Pro739Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2146C>T
  hgvsp: ENSP00000403497.1:p.Pro716Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4420C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro728Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

5-141243716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243716
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243716
    reference: chr 5
allele count: 1
allele frequency: 8.408731626921395e-6
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4418C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2180C>A
  hgvsp: ENSP00000287008.3:p.Thr727Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2180C>A
  hgvsp: ENSP00000378043.3:p.Thr727Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2114C>A
  hgvsp: ENSP00000438825.1:p.Thr705Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1299C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2213C>A
  hgvsp: ENSP00000350122.5:p.Thr738Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2144C>A
  hgvsp: ENSP00000403497.1:p.Thr715Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1408C>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr727Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

5-141243753-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243753
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243753
    reference: chr 5
allele count: 1
allele frequency: 8.411136344520145e-6
allele num: 118890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4381A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2077A>G
  hgvsp: ENSP00000438825.1:p.Ile693Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2107A>G
  hgvsp: ENSP00000403497.1:p.Ile703Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2176A>G
  hgvsp: ENSP00000350122.5:p.Ile726Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2143A>G
  hgvsp: ENSP00000378043.3:p.Ile715Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2143A>G
  hgvsp: ENSP00000287008.3:p.Ile715Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1262A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1371A>G
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile715Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-141243755-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243755
    reference: chr 5
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2075A>G
  hgvsp: ENSP00000438825.1:p.Tyr692Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2105A>G
  hgvsp: ENSP00000403497.1:p.Tyr702Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2141A>G
  hgvsp: ENSP00000287008.3:p.Tyr714Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4379A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1369A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1260A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2174A>G
  hgvsp: ENSP00000350122.5:p.Tyr725Cys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2141A>G
  hgvsp: ENSP00000378043.3:p.Tyr714Cys
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr714Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

5-141243762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243762
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243762
    reference: chr 5
allele count: 1318
allele frequency: 1.10899819935042e-2
allele num: 118846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2068G>A
  hgvsp: ENSP00000438825.1:p.Ala690Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1253G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2167G>A
  hgvsp: ENSP00000350122.5:p.Ala723Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2098G>A
  hgvsp: ENSP00000403497.1:p.Ala700Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1362G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2134G>A
  hgvsp: ENSP00000287008.3:p.Ala712Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4372G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2134G>A
  hgvsp: ENSP00000378043.3:p.Ala712Thr
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 6.25e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 4.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6305
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 3
hgvs: p.Ala712Thr
num of homozygotes: 7
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-141243763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243763
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243763
    reference: chr 5
allele count: 11
allele frequency: 9.245562130177515e-5
allele num: 118976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2133C>T
  hgvsp: ENST00000287008.3:c.2133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2097C>T
  hgvsp: ENST00000456271.1:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2067C>T
  hgvsp: ENST00000536585.1:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4371C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1252C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2133C>T
  hgvsp: ENST00000394536.3:c.2133C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1361C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2166C>T
  hgvsp: ENST00000357517.5:c.2166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn711Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

5-141243775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243775
    reference: chr 5
allele count: 3
allele frequency: 2.515934250251593e-5
allele num: 119240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4359C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2055C>T
  hgvsp: ENST00000536585.1:c.2055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2085C>T
  hgvsp: ENST00000456271.1:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2121C>T
  hgvsp: ENST00000287008.3:c.2121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2154C>T
  hgvsp: ENST00000357517.5:c.2154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1349C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2121C>T
  hgvsp: ENST00000394536.3:c.2121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1240C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15234
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp707Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

5-141243790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243790
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243790
    reference: chr 5
allele count: 3
allele frequency: 2.509032517061421e-5
allele num: 119568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2106C>T
  hgvsp: ENST00000394536.3:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2040C>T
  hgvsp: ENST00000536585.1:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2139C>T
  hgvsp: ENST00000357517.5:c.2139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4344C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1225C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2070C>T
  hgvsp: ENST00000456271.1:c.2070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1334C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2106C>T
  hgvsp: ENST00000287008.3:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15238
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr702Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

5-141243796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243796
    reference: chr 5
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2100T>C
  hgvsp: ENST00000394536.3:c.2100T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2133T>C
  hgvsp: ENST00000357517.5:c.2133T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2064T>C
  hgvsp: ENST00000456271.1:c.2064T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4338T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2034T>C
  hgvsp: ENST00000536585.1:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1328T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2100T>C
  hgvsp: ENST00000287008.3:c.2100T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1219T>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly700Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

5-141243800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243800
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243800
    reference: chr 5
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4334T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2129T>C
  hgvsp: ENSP00000350122.5:p.Val710Ala
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2030T>C
  hgvsp: ENSP00000438825.1:p.Val677Ala
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2096T>C
  hgvsp: ENSP00000287008.3:p.Val699Ala
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1215T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1324T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2096T>C
  hgvsp: ENSP00000378043.3:p.Val699Ala
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2060T>C
  hgvsp: ENSP00000403497.1:p.Val687Ala
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20498
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val699Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

5-141243801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243801
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243801
    reference: chr 5
allele count: 2
allele frequency: 1.669811478284102e-5
allele num: 119774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1214G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1323G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2095G>A
  hgvsp: ENSP00000378043.3:p.Val699Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4333G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2059G>A
  hgvsp: ENSP00000403497.1:p.Val687Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2029G>A
  hgvsp: ENSP00000438825.1:p.Val677Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2128G>A
  hgvsp: ENSP00000350122.5:p.Val710Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2095G>A
  hgvsp: ENSP00000287008.3:p.Val699Ile
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val699Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-141243802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243802
    reference: chr 5
allele count: 4
allele frequency: 3.336336035765522e-5
allele num: 119892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1322C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4332C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2094C>T
  hgvsp: ENST00000394536.3:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2028C>T
  hgvsp: ENST00000536585.1:c.2028C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2058C>T
  hgvsp: ENST00000456271.1:c.2058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2094C>T
  hgvsp: ENST00000287008.3:c.2094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2127C>T
  hgvsp: ENST00000357517.5:c.2127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1213C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr698Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

5-141243807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243807
    reference: chr 5
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1317G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2089G>A
  hgvsp: ENSP00000378043.3:p.Ala697Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2023G>A
  hgvsp: ENSP00000438825.1:p.Ala675Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1208G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2122G>A
  hgvsp: ENSP00000350122.5:p.Ala708Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2089G>A
  hgvsp: ENSP00000287008.3:p.Ala697Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2053G>A
  hgvsp: ENSP00000403497.1:p.Ala685Thr
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4327G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala697Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-141243822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243822
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243822
    reference: chr 5
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2074G>A
  hgvsp: ENSP00000287008.3:p.Val692Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2107G>A
  hgvsp: ENSP00000350122.5:p.Val703Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1302G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2038G>A
  hgvsp: ENSP00000403497.1:p.Val680Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2008G>A
  hgvsp: ENSP00000438825.1:p.Val670Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4312G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1193G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2074G>A
  hgvsp: ENSP00000378043.3:p.Val692Ile
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val692Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

5-141243823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2073C>T
  hgvsp: ENST00000287008.3:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2106C>T
  hgvsp: ENST00000357517.5:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2007C>T
  hgvsp: ENST00000536585.1:c.2007C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1301C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2073C>T
  hgvsp: ENST00000394536.3:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1192C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4311C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2037C>T
  hgvsp: ENST00000456271.1:c.2037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly691Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

5-141243823-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1301C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2073C>G
  hgvsp: ENST00000394536.3:c.2073C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2073C>G
  hgvsp: ENST00000287008.3:c.2073C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2106C>G
  hgvsp: ENST00000357517.5:c.2106C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4311C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1192C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2007C>G
  hgvsp: ENST00000536585.1:c.2007C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2037C>G
  hgvsp: ENST00000456271.1:c.2037C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly691Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-141243823-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243823
    reference: chr 5
allele count: 1
allele frequency: 8.289674381590291e-6
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2106C>A
  hgvsp: ENST00000357517.5:c.2106C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2073C>A
  hgvsp: ENST00000394536.3:c.2073C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4311C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2037C>A
  hgvsp: ENST00000456271.1:c.2037C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2073C>A
  hgvsp: ENST00000287008.3:c.2073C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1301C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2007C>A
  hgvsp: ENST00000536585.1:c.2007C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1192C>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly691Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-141243826-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243826
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243826
    reference: chr 5
allele count: 100
allele frequency: 8.376612497905847e-4
allele num: 119380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2070T>G
  hgvsp: ENST00000287008.3:c.2070T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1298T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2034T>G
  hgvsp: ENST00000456271.1:c.2034T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2103T>G
  hgvsp: ENST00000357517.5:c.2103T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4308T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1189T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2070T>G
  hgvsp: ENST00000394536.3:c.2070T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.2004T>G
  hgvsp: ENST00000536585.1:c.2004T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 21869
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 8.25e1
  variant carriers: 5
hgvs: p.Gly690Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-141243843-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243843
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243843
    reference: chr 5
allele count: 2
allele frequency: 1.651036851142517e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2017C>A
  hgvsp: ENSP00000403497.1:p.Leu673Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2086C>A
  hgvsp: ENSP00000350122.5:p.Leu696Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1987C>A
  hgvsp: ENSP00000438825.1:p.Leu663Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4291C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1172C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2053C>A
  hgvsp: ENSP00000378043.3:p.Leu685Met
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1281C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2053C>A
  hgvsp: ENSP00000287008.3:p.Leu685Met
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15439
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu685Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

5-141243850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243850
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243850
    reference: chr 5
allele count: 7
allele frequency: 5.775196356676127e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2079C>T
  hgvsp: ENST00000357517.5:c.2079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2046C>T
  hgvsp: ENST00000287008.3:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1980C>T
  hgvsp: ENST00000536585.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1274C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.2010C>T
  hgvsp: ENST00000456271.1:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2046C>T
  hgvsp: ENST00000394536.3:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4284C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1165C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr682Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-141243862-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243862
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243862
    reference: chr 5
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2034A>T
  hgvsp: ENSP00000287008.3:p.Gln678His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4272A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1153A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1262A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1968A>T
  hgvsp: ENSP00000438825.1:p.Gln656His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2067A>T
  hgvsp: ENSP00000350122.5:p.Gln689His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1998A>T
  hgvsp: ENSP00000403497.1:p.Gln666His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2034A>T
  hgvsp: ENSP00000378043.3:p.Gln678His
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln678His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

5-141243872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243872
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243872
    reference: chr 5
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4262G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2024G>A
  hgvsp: ENSP00000378043.3:p.Arg675Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1958G>A
  hgvsp: ENSP00000438825.1:p.Arg653Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1143G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1988G>A
  hgvsp: ENSP00000403497.1:p.Arg663Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1252G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2057G>A
  hgvsp: ENSP00000350122.5:p.Arg686Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2024G>A
  hgvsp: ENSP00000287008.3:p.Arg675Gln
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg675Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-141243880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243880
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243880
    reference: chr 5
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1135C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1950C>T
  hgvsp: ENST00000536585.1:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1980C>T
  hgvsp: ENST00000456271.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2016C>T
  hgvsp: ENST00000394536.3:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2049C>T
  hgvsp: ENST00000357517.5:c.2049C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2016C>T
  hgvsp: ENST00000287008.3:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4254C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1244C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser672Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

5-141243885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243885
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2044C>T
  hgvsp: ENST00000357517.5:c.2044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1945C>T
  hgvsp: ENST00000536585.1:c.1945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2011C>T
  hgvsp: ENST00000287008.3:c.2011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1239C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1130C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2011C>T
  hgvsp: ENST00000394536.3:c.2011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1975C>T
  hgvsp: ENST00000456271.1:c.1975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4249C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu671Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-141243892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243892
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243892
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1938A>G
  hgvsp: ENST00000536585.1:c.1938A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2037A>G
  hgvsp: ENST00000357517.5:c.2037A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1968A>G
  hgvsp: ENST00000456271.1:c.1968A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1123A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1232A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2004A>G
  hgvsp: ENST00000287008.3:c.2004A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2004A>G
  hgvsp: ENST00000394536.3:c.2004A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4242A>G
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu668Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-141243895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243895
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243895
    reference: chr 5
allele count: 13
allele frequency: 1.071652323012497e-4
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.2001C>T
  hgvsp: ENST00000287008.3:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1935C>T
  hgvsp: ENST00000536585.1:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.2001C>T
  hgvsp: ENST00000394536.3:c.2001C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4239C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2034C>T
  hgvsp: ENST00000357517.5:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1120C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1965C>T
  hgvsp: ENST00000456271.1:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1229C>T
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile667Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-141243918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243918
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243918
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1097A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1978A>G
  hgvsp: ENSP00000287008.3:p.Ile660Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1912A>G
  hgvsp: ENSP00000438825.1:p.Ile638Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1942A>G
  hgvsp: ENSP00000403497.1:p.Ile648Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4216A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1978A>G
  hgvsp: ENSP00000378043.3:p.Ile660Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2011A>G
  hgvsp: ENSP00000350122.5:p.Ile671Val
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1206A>G
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile660Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-141243921-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243921
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243921
    reference: chr 5
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1975G>A
  hgvsp: ENSP00000287008.3:p.Val659Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1975G>A
  hgvsp: ENSP00000378043.3:p.Val659Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.2008G>A
  hgvsp: ENSP00000350122.5:p.Val670Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1094G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1909G>A
  hgvsp: ENSP00000438825.1:p.Val637Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1939G>A
  hgvsp: ENSP00000403497.1:p.Val647Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4213G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1203G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val659Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

5-141243930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243930
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243930
    reference: chr 5
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1930G>A
  hgvsp: ENSP00000403497.1:p.Gly644Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1194G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1900G>A
  hgvsp: ENSP00000438825.1:p.Gly634Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1966G>A
  hgvsp: ENSP00000287008.3:p.Gly656Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1966G>A
  hgvsp: ENSP00000378043.3:p.Gly656Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4204G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1999G>A
  hgvsp: ENSP00000350122.5:p.Gly667Ser
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1085G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15442
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly656Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-141243931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243931
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243931
    reference: chr 5
allele count: 5
allele frequency: 4.122691292875989e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1899C>T
  hgvsp: ENST00000536585.1:c.1899C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4203C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1998C>T
  hgvsp: ENST00000357517.5:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1193C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1965C>T
  hgvsp: ENST00000287008.3:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1965C>T
  hgvsp: ENST00000394536.3:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1084C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1929C>T
  hgvsp: ENST00000456271.1:c.1929C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15444
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn655Asn
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

5-141243943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243943
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243943
    reference: chr 5
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1953G>A
  hgvsp: ENST00000287008.3:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4191G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1953G>A
  hgvsp: ENST00000394536.3:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1072G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1986G>A
  hgvsp: ENST00000357517.5:c.1986G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1181G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1887G>A
  hgvsp: ENST00000536585.1:c.1887G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1917G>A
  hgvsp: ENST00000456271.1:c.1917G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val651Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-141243952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243952
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243952
    reference: chr 5
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1878G>C
  hgvsp: ENSP00000438825.1:p.Gln626His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1944G>C
  hgvsp: ENSP00000378043.3:p.Gln648His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1977G>C
  hgvsp: ENSP00000350122.5:p.Gln659His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1944G>C
  hgvsp: ENSP00000287008.3:p.Gln648His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1908G>C
  hgvsp: ENSP00000403497.1:p.Gln636His
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1063G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1172G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4182G>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln648His
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

5-141243954-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243954
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243954
    reference: chr 5
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1876C>G
  hgvsp: ENSP00000438825.1:p.Gln626Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1061C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1906C>G
  hgvsp: ENSP00000403497.1:p.Gln636Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1170C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1942C>G
  hgvsp: ENSP00000378043.3:p.Gln648Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4180C>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1942C>G
  hgvsp: ENSP00000287008.3:p.Gln648Glu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1975C>G
  hgvsp: ENSP00000350122.5:p.Gln659Glu
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15448
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22285
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln648Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

5-141243954-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243954
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243954
    reference: chr 5
allele count: 3
allele frequency: 2.473859550747106e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1942C>A
  hgvsp: ENSP00000378043.3:p.Gln648Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1876C>A
  hgvsp: ENSP00000438825.1:p.Gln626Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1061C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1975C>A
  hgvsp: ENSP00000350122.5:p.Gln659Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4180C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1170C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1906C>A
  hgvsp: ENSP00000403497.1:p.Gln636Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1942C>A
  hgvsp: ENSP00000287008.3:p.Gln648Lys
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15448
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln648Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-141243967-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141243967
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141243967
    reference: chr 5
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1893G>T
  hgvsp: ENSP00000403497.1:p.Glu631Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1929G>T
  hgvsp: ENSP00000287008.3:p.Glu643Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1929G>T
  hgvsp: ENSP00000378043.3:p.Glu643Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1048G>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1863G>T
  hgvsp: ENSP00000438825.1:p.Glu621Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1157G>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4167G>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1962G>T
  hgvsp: ENSP00000350122.5:p.Glu654Asp
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15449
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu643Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

5-141244005-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244005
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244005
    reference: chr 5
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1855G>C
  hgvsp: ENSP00000403497.1:p.Val619Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*1010G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1119G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1891G>C
  hgvsp: ENSP00000378043.3:p.Val631Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1924G>C
  hgvsp: ENSP00000350122.5:p.Val642Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1891G>C
  hgvsp: ENSP00000287008.3:p.Val631Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1825G>C
  hgvsp: ENSP00000438825.1:p.Val609Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4129G>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15453
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val631Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-141244030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244030
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244030
    reference: chr 5
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1866G>A
  hgvsp: ENSP00000378043.3:p.Met622Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4104G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1866G>A
  hgvsp: ENSP00000287008.3:p.Met622Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1094G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1800G>A
  hgvsp: ENSP00000438825.1:p.Met600Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1899G>A
  hgvsp: ENSP00000350122.5:p.Met633Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*985G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1830G>A
  hgvsp: ENSP00000403497.1:p.Met610Ile
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met622Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-141244042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244042
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244042
    reference: chr 5
allele count: 5
allele frequency: 4.125616779708567e-5
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1854C>A
  hgvsp: ENSP00000378043.3:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1818C>A
  hgvsp: ENSP00000403497.1:p.Asn606Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1788C>A
  hgvsp: ENSP00000438825.1:p.Asn596Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1082C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1854C>A
  hgvsp: ENSP00000287008.3:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1887C>A
  hgvsp: ENSP00000350122.5:p.Asn629Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*973C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4092C>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15447
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn618Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-141244045-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244045
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244045
    reference: chr 5
allele count: 198
allele frequency: 1.664788874501825e-3
allele num: 118934
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1851C>A
  hgvsp: ENSP00000287008.3:p.Tyr617Ter
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4089C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1884C>A
  hgvsp: ENSP00000350122.5:p.Tyr628Ter
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1851C>A
  hgvsp: ENSP00000378043.3:p.Tyr617Ter
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1785C>A
  hgvsp: ENSP00000438825.1:p.Tyr595Ter
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*970C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1079C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1815C>A
  hgvsp: ENSP00000403497.1:p.Tyr605Ter
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 21798
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.75e1
  variant carriers: 7
hgvs: p.Tyr617Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-141244054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244054
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244054
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1806G>A
  hgvsp: ENST00000456271.1:c.1806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1070G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1875G>A
  hgvsp: ENST00000357517.5:c.1875G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1776G>A
  hgvsp: ENST00000536585.1:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1842G>A
  hgvsp: ENST00000394536.3:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*961G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4080G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1842G>A
  hgvsp: ENST00000287008.3:c.1842G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu614Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-141244057-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244057
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244057
    reference: chr 5
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1803G>C
  hgvsp: ENSP00000403497.1:p.Met601Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1839G>C
  hgvsp: ENSP00000287008.3:p.Met613Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1872G>C
  hgvsp: ENSP00000350122.5:p.Met624Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1067G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1773G>C
  hgvsp: ENSP00000438825.1:p.Met591Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*958G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4077G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1839G>C
  hgvsp: ENSP00000378043.3:p.Met613Ile
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met613Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/5-141244093-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244093
    reference: chr 5
allele count: 88
allele frequency: 7.260246848392845e-4
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*922T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1767T>G
  hgvsp: ENSP00000403497.1:p.Asn589Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1836T>G
  hgvsp: ENSP00000350122.5:p.Asn612Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1031T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1737T>G
  hgvsp: ENSP00000438825.1:p.Asn579Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1803T>G
  hgvsp: ENSP00000287008.3:p.Asn601Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4041T>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1803T>G
  hgvsp: ENSP00000378043.3:p.Asn601Lys
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15412
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn601Lys
num of homozygotes: 2
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-141244098-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244098
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244098
    reference: chr 5
allele count: 2
allele frequency: 1.650028875505322e-5
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4036G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1831G>C
  hgvsp: ENSP00000350122.5:p.Val611Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1762G>C
  hgvsp: ENSP00000403497.1:p.Val588Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1026G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1798G>C
  hgvsp: ENSP00000378043.3:p.Val600Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*917G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1732G>C
  hgvsp: ENSP00000438825.1:p.Val578Leu
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1798G>C
  hgvsp: ENSP00000287008.3:p.Val600Leu
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15246
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val600Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

5-141244104-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244104
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244104
    reference: chr 5
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1792G>A
  hgvsp: ENSP00000378043.3:p.Val598Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1726G>A
  hgvsp: ENSP00000438825.1:p.Val576Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1756G>A
  hgvsp: ENSP00000403497.1:p.Val586Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*911G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1825G>A
  hgvsp: ENSP00000350122.5:p.Val609Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4030G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1792G>A
  hgvsp: ENSP00000287008.3:p.Val598Ile
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1020G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val598Ile
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-141244106-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244106
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244106
    reference: chr 5
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1790C>A
  hgvsp: ENSP00000378043.3:p.Thr597Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1724C>A
  hgvsp: ENSP00000438825.1:p.Thr575Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1018C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1790C>A
  hgvsp: ENSP00000287008.3:p.Thr597Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1823C>A
  hgvsp: ENSP00000350122.5:p.Thr608Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1754C>A
  hgvsp: ENSP00000403497.1:p.Thr585Asn
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4028C>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*909C>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr597Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

5-141244111-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244111
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244111
    reference: chr 5
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*904A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4023A>G
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1749A>G
  hgvsp: ENST00000456271.1:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1785A>G
  hgvsp: ENST00000287008.3:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1719A>G
  hgvsp: ENST00000536585.1:c.1719A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1818A>G
  hgvsp: ENST00000357517.5:c.1818A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1785A>G
  hgvsp: ENST00000394536.3:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1013A>G
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr595Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

5-141244113-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244113
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244113
    reference: chr 5
allele count: 8
allele frequency: 6.614194060453734e-5
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*902A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1717A>C
  hgvsp: ENSP00000438825.1:p.Thr573Pro
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+4021A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1747A>C
  hgvsp: ENSP00000403497.1:p.Thr583Pro
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1816A>C
  hgvsp: ENSP00000350122.5:p.Thr606Pro
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.1011A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1783A>C
  hgvsp: ENSP00000378043.3:p.Thr595Pro
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1783A>C
  hgvsp: ENSP00000287008.3:p.Thr595Pro
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Thr595Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-141244136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244136
    reference: chr 5
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*879G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1760G>A
  hgvsp: ENSP00000378043.3:p.Arg587Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1724G>A
  hgvsp: ENSP00000403497.1:p.Arg575Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1694G>A
  hgvsp: ENSP00000438825.1:p.Arg565Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1760G>A
  hgvsp: ENSP00000287008.3:p.Arg587Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3998G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.988G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1793G>A
  hgvsp: ENSP00000350122.5:p.Arg598Gln
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg587Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

5-141244137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244137
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244137
    reference: chr 5
allele count: 14
allele frequency: 1.155115511551155e-4
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1693C>T
  hgvsp: ENSP00000438825.1:p.Arg565Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1759C>T
  hgvsp: ENSP00000287008.3:p.Arg587Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.987C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3997C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1759C>T
  hgvsp: ENSP00000378043.3:p.Arg587Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*878C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1792C>T
  hgvsp: ENSP00000350122.5:p.Arg598Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1723C>T
  hgvsp: ENSP00000403497.1:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12950
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg587Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

5-141244147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244147
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244147
    reference: chr 5
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1749G>A
  hgvsp: ENST00000394536.3:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1749G>A
  hgvsp: ENST00000287008.3:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*868G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.977G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3987G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1713G>A
  hgvsp: ENST00000456271.1:c.1713G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1683G>A
  hgvsp: ENST00000536585.1:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1782G>A
  hgvsp: ENST00000357517.5:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val583Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-141244153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244153
    reference: chr 5
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3981G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.971G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1743G>A
  hgvsp: ENST00000394536.3:c.1743G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1776G>A
  hgvsp: ENST00000357517.5:c.1776G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1743G>A
  hgvsp: ENST00000287008.3:c.1743G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*862G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1677G>A
  hgvsp: ENST00000536585.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1707G>A
  hgvsp: ENST00000456271.1:c.1707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys581Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

5-141244155-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244155
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244155
    reference: chr 5
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.969A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1675A>C
  hgvsp: ENSP00000438825.1:p.Lys559Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1774A>C
  hgvsp: ENSP00000350122.5:p.Lys592Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*860A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1741A>C
  hgvsp: ENSP00000287008.3:p.Lys581Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3979A>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1741A>C
  hgvsp: ENSP00000378043.3:p.Lys581Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1705A>C
  hgvsp: ENSP00000403497.1:p.Lys569Gln
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys581Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS

5-141244161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244161
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244161
    reference: chr 5
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1768G>A
  hgvsp: ENSP00000350122.5:p.Glu590Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1699G>A
  hgvsp: ENSP00000403497.1:p.Glu567Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1669G>A
  hgvsp: ENSP00000438825.1:p.Glu557Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1735G>A
  hgvsp: ENSP00000378043.3:p.Glu579Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1735G>A
  hgvsp: ENSP00000287008.3:p.Glu579Lys
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*854G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.963G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3973G>A
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu579Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-141244162-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244162
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244162
    reference: chr 5
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*853T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1698T>C
  hgvsp: ENST00000456271.1:c.1698T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3972T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1734T>C
  hgvsp: ENST00000394536.3:c.1734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.962T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1734T>C
  hgvsp: ENST00000287008.3:c.1734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1668T>C
  hgvsp: ENST00000536585.1:c.1668T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1767T>C
  hgvsp: ENST00000357517.5:c.1767T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr578Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

5-141244163-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244163
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244163
    reference: chr 5
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1733A>T
  hgvsp: ENSP00000287008.3:p.Tyr578Phe
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3971A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.961A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1766A>T
  hgvsp: ENSP00000350122.5:p.Tyr589Phe
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*852A>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1733A>T
  hgvsp: ENSP00000378043.3:p.Tyr578Phe
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1697A>T
  hgvsp: ENSP00000403497.1:p.Tyr566Phe
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1667A>T
  hgvsp: ENSP00000438825.1:p.Tyr556Phe
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr578Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

5-141244168-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244168
    reference: chr 5
allele count: 19
allele frequency: 1.567268827847892e-4
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3966G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1728G>C
  hgvsp: ENSP00000287008.3:p.Glu576Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1761G>C
  hgvsp: ENSP00000350122.5:p.Glu587Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.956G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*847G>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1662G>C
  hgvsp: ENSP00000438825.1:p.Glu554Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1692G>C
  hgvsp: ENSP00000403497.1:p.Glu564Asp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1728G>C
  hgvsp: ENSP00000378043.3:p.Glu576Asp
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu576Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

5-141244172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244172
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244172
    reference: chr 5
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.952G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1724G>A
  hgvsp: ENSP00000378043.3:p.Arg575Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1688G>A
  hgvsp: ENSP00000403497.1:p.Arg563Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1757G>A
  hgvsp: ENSP00000350122.5:p.Arg586Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*843G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1724G>A
  hgvsp: ENSP00000287008.3:p.Arg575Gln
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3962G>A
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1658G>A
  hgvsp: ENSP00000438825.1:p.Arg553Gln
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15193
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg575Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

5-141244173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244173
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244173
    reference: chr 5
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1723C>T
  hgvsp: ENSP00000287008.3:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3961C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*842C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.951C>T
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1723C>T
  hgvsp: ENSP00000378043.3:p.Arg575Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1657C>T
  hgvsp: ENSP00000438825.1:p.Arg553Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1687C>T
  hgvsp: ENSP00000403497.1:p.Arg563Trp
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1756C>T
  hgvsp: ENSP00000350122.5:p.Arg586Trp
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg575Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

5-141244183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244183
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244183
    reference: chr 5
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*832T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1713T>C
  hgvsp: ENST00000394536.3:c.1713T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1677T>C
  hgvsp: ENST00000456271.1:c.1677T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1713T>C
  hgvsp: ENST00000287008.3:c.1713T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3951T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1647T>C
  hgvsp: ENST00000536585.1:c.1647T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1746T>C
  hgvsp: ENST00000357517.5:c.1746T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.941T>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp571Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

5-141244189-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 141244189
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 141244189
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000287008
  ensembl transcript: ENST00000287008
  gene symbol: PCDH1
  hgvsc: ENST00000287008.3:c.1707T>C
  hgvsp: ENST00000287008.3:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156453
  ensembl transcript: ENST00000511044
  gene symbol: PCDH1
  hgvsc: ENST00000511044.1:n.935T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000350122
  ensembl transcript: ENST00000357517
  gene symbol: PCDH1
  hgvsc: ENST00000357517.5:c.1740T>C
  hgvsp: ENST00000357517.5:c.1740T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000403497
  ensembl transcript: ENST00000456271
  gene symbol: PCDH1
  hgvsc: ENST00000456271.1:c.1671T>C
  hgvsp: ENST00000456271.1:c.1671T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000438825
  ensembl transcript: ENST00000536585
  gene symbol: PCDH1
  hgvsc: ENST00000536585.1:c.1641T>C
  hgvsp: ENST00000536585.1:c.1641T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000378043
  ensembl transcript: ENST00000394536
  gene symbol: PCDH1
  hgvsc: ENST00000394536.3:c.1707T>C
  hgvsp: ENST00000394536.3:c.1707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424667
  ensembl transcript: ENST00000503492
  gene symbol: PCDH1
  hgvsc: ENST00000503492.1:c.903+3945T>C
  variant of: http://identifiers.org/hgnc/8655
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156453
  ensembl protein: ENSP00000424204
  ensembl transcript: ENST00000515351
  gene symbol: PCDH1
  hgvsc: ENST00000515351.1:c.*826T>C
  variant of: http://identifiers.org/hgnc/8655
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ser569Ser
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66060
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.165e0

VQSLOD
type: SiteQuality
SIO_000300: -1.301e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 2.722e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.774e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 1.506065e6

GenotypeQuality
all individuals: 417
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.402e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

FS
type: SiteQuality
SIO_000300: 1.316e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.202e0

DP
type: SiteQuality
SIO_000300: 1.508865e6

GenotypeQuality
all individuals: 3633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36007
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 1.436e0

QD
type: SiteQuality
SIO_000300: 1.765e1

DP
type: SiteQuality
SIO_000300: 1.516878e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 74

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 23

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 146

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 16

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 66

GenotypeQuality
all individuals: 531
bin: 8.75e1
variant carriers: 312

GenotypeQuality
all individuals: 291
bin: 5.75e1
variant carriers: 153

GenotypeQuality
all individuals: 34391
bin: 9.75e1
variant carriers: 34140

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 84

GenotypeQuality
all individuals: 1582
bin: 7.25e1
variant carriers: 246

GenotypeQuality
all individuals: 3645
bin: 6.75e1
variant carriers: 315

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 364

GenotypeQuality
all individuals: 727
bin: 9.25e1
variant carriers: 517

African
type: Population
allele count: 3238
allele frequency: 3.166438490123215e-1
allele num: 10226
num of homozygotes: 492

European (Finnish)
type: Population
allele count: 2099
allele frequency: 3.188031591737546e-1
allele num: 6584
num of homozygotes: 352

Latino
type: Population
allele count: 3804
allele frequency: 3.313588850174216e-1
allele num: 11480
num of homozygotes: 643

East Asian
type: Population
allele count: 4821
allele frequency: 5.616262814538676e-1
allele num: 8584
num of homozygotes: 1372

Other
type: Population
allele count: 393
allele frequency: 4.356984478935698e-1
allele num: 902
num of homozygotes: 84

European (Non-Finnish)
type: Population
allele count: 23516
allele frequency: 3.561303610370729e-1
allele num: 66032
num of homozygotes: 4288

South Asian
type: Population
allele count: 9181
allele frequency: 5.609115347018573e-1
allele num: 16368
num of homozygotes: 2578

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.554e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.872e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 2.237263e6

GenotypeQuality
all individuals: 2040
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3712
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.24687656171914e-5
allele num: 16008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.619e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 2.009999e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15066
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6297
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.36213258684311e-5
allele num: 15718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.834e0

DP
type: SiteQuality
SIO_000300: 1.997627e6

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.642e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 541
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15084
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.841737584148355e-3
allele num: 15746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.997722e6

QD
type: SiteQuality
SIO_000300: 1.225e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15076
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.444e0

DP
type: SiteQuality
SIO_000300: 1.992362e6

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: -2.356e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

GenotypeQuality
all individuals: 506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15096
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3282
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737317581653926e-4
allele num: 11512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.520605112154408e-5
allele num: 15336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.517496737382015e-4
allele num: 65898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.991671e6

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15113
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 752
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2064
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19256
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.554840276934289e-5
allele num: 65864
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.041666666666667e-3
allele num: 11520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 15
allele frequency: 2.26928895612708e-3
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.292e0

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

DP
type: SiteQuality
SIO_000300: 1.991782e6

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

GenotypeQuality
all individuals: 439
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15105
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6321
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.576351440220966e-5
allele num: 15206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.635e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 1.990906e6

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3421
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.893e1

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 4.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.245e0

DP
type: SiteQuality
SIO_000300: 1.991111e6

VQSLOD
type: SiteQuality
SIO_000300: -9.218e-1

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2076
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19036
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

DP
type: SiteQuality
SIO_000300: 1.99096e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-5
allele num: 65940
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.57e-1

FS
type: SiteQuality
SIO_000300: 4.623e0

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.9942e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.684e0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3348
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variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516438189979376e-5
allele num: 65944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15002
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 1.994479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 5.156e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -9.209000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

GenotypeQuality
all individuals: 19029
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 15771
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variant carriers: 1301

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1009
allele frequency: 1.529668597071041e-2
allele num: 65962
num of homozygotes: 4

African
type: Population
allele count: 15
allele frequency: 1.457159510394404e-3
allele num: 10294
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.576576576576576e-2
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 149
allele frequency: 9.994633753689294e-3
allele num: 14908
num of homozygotes: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 46
allele frequency: 6.957047791893527e-3
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 85
allele frequency: 7.364408248137238e-3
allele num: 11542
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 2.03631e6

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15236
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variant carriers: 11

GenotypeQuality
all individuals: 2605
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 388
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.363264564209761e-4
allele num: 66018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.680919294494922e-5
allele num: 14968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.002341e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53898992344237e-5
allele num: 66094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.31e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 2.006779e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6481
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.531722054380665e-5
allele num: 66200
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.186e0

FS
type: SiteQuality
SIO_000300: 2.014e0

DP
type: SiteQuality
SIO_000300: 2.014467e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509707418702255e-5
allele num: 66238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.017209e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 15238
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 180
bin: 4.75e1
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GenotypeQuality
all individuals: 2603
bin: 9.25e1
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GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 3457
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15464
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.019985e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 8.372999999999999e0

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.296176279974077e-4
allele num: 15430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.021141e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: -5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.035003017501508e-5
allele num: 66280
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.022875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

FS
type: SiteQuality
SIO_000300: 3.264e0

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.781e0

DP
type: SiteQuality
SIO_000300: 2.026147e6

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.956e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 2.039703e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 1
allele frequency: 6.235969069593415e-5
allele num: 16036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 5.01e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.041273e6

FS
type: SiteQuality
SIO_000300: 1.147e1

VQSLOD
type: SiteQuality
SIO_000300: -2.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: -5.4e-1

VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele num: 16036
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Other
type: Population
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Latino
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East Asian
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African
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European (Non-Finnish)
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 11
allele frequency: 1.752708731676227e-3
allele num: 6276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 7.602712647872761e-4
allele num: 65766
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Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
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African
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allele count: 33
allele frequency: 3.244837758112094e-3
allele num: 10170
num of homozygotes: 0

Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 4.640371229698376e-4
allele num: 8620
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e0

DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 9.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.778e0

DP
type: SiteQuality
SIO_000300: 2.063732e6

QD
type: SiteQuality
SIO_000300: 8.44e0

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.756e0

VQSLOD
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SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 2.065434e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
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SIO_000300: -1.133e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.601e1

DP
type: SiteQuality
SIO_000300: 2.066161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.673e0

QD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.348e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.066467e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.299e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 2.066641e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.066631e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.78e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.97e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 13
allele frequency: 1.2531328320802e-3
allele num: 10374
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: -2.12e-1

VQSLOD
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DP
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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SIO_000300: -4.556e0

MQRankSum
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SIO_000300: 2.11e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
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MQ
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DP
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FS
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MQRankSum
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SIO_000300: 2.01e-1

ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.998620317327015e-5
allele num: 66682
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
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SIO_000300: 2.065115e6

QD
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FS
type: SiteQuality
SIO_000300: 1.096e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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East Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 6.4e0

VQSLOD
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQRankSum
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SIO_000300: 6.67e-1

ReadPosRankSum
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SIO_000300: -1.243e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.901e0

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: -3.056e0

ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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African
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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MQ
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 6770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3873
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.101e0

FS
type: SiteQuality
SIO_000300: 3.331e0

DP
type: SiteQuality
SIO_000300: 2.064013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.75e1
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GenotypeQuality
all individuals: 2660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 7.3199e1

DP
type: SiteQuality
SIO_000300: 2.064013e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -2.575e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 14700
bin: 9.75e1
variant carriers: 50

GenotypeQuality
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bin: 7.5e0
variant carriers: 14

GenotypeQuality
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bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 282
bin: 2.25e1
variant carriers: 12

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 16

GenotypeQuality
all individuals: 221
bin: 3.25e1
variant carriers: 12

GenotypeQuality
all individuals: 162
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 15

GenotypeQuality
all individuals: 2571
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2053
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 14

European (Non-Finnish)
type: Population
allele count: 115
allele frequency: 1.761048666197054e-3
allele num: 65302
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.347070074769605e-4
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.34075723830735e-3
allele num: 9878
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322880371660859e-4
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.707762557077625e-3
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 6.062539885130823e-3
allele num: 6268
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.573e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.518e0

DP
type: SiteQuality
SIO_000300: 2.12142e6

VQSLOD
type: SiteQuality
SIO_000300: -8.504000000000001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 1.32177e2

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 6.3e-1

GenotypeQuality
all individuals: 3547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 2116
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 15237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.918e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 5.529e0

DP
type: SiteQuality
SIO_000300: 2.060093e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.413e0

QD
type: SiteQuality
SIO_000300: 1.963e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 3411
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GenotypeQuality
all individuals: 3928
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 15238
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variant carriers: 1

GenotypeQuality
all individuals: 2116
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variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.060111e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 7.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15300
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 3920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 84
allele frequency: 8.130081300813009e-3
allele num: 10332
num of homozygotes: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.458412588621823e-4
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.511e1

DP
type: SiteQuality
SIO_000300: 2.063581e6

GenotypeQuality
all individuals: 2683
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 3406
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 6828
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.344e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

DP
type: SiteQuality
SIO_000300: 2.060938e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 15244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3404
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 6810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3918
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variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.768e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.060309e6

MQRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 3543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 30
bin: 4.25e1
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GenotypeQuality
all individuals: 6807
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GenotypeQuality
all individuals: 3918
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 3402
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GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.266e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

VQSLOD
type: SiteQuality
SIO_000300: -3.903e-1

DP
type: SiteQuality
SIO_000300: 2.059922e6

FS
type: SiteQuality
SIO_000300: 6.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.251e0

GenotypeQuality
all individuals: 3539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 2.05881e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 2.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15137
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511413877109086e-5
allele num: 66498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.879000780640125e-4
allele num: 10248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.793e1

DP
type: SiteQuality
SIO_000300: 2.056767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.015e0

FS
type: SiteQuality
SIO_000300: 1.47243e2

VQSLOD
type: SiteQuality
SIO_000300: -1.072e2

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

QD
type: SiteQuality
SIO_000300: 9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e0

GenotypeQuality
all individuals: 3887
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 2.04881e6

FS
type: SiteQuality
SIO_000300: 1.6516e1

MQ
type: SiteQuality
SIO_000300: 5.848e1

QD
type: SiteQuality
SIO_000300: 2.614e1

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3507
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 15192
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2101
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variant carriers: 0

GenotypeQuality
all individuals: 6740
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variant carriers: 0

GenotypeQuality
all individuals: 3885
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.350905106421302e-4
allele num: 66622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.04911e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15190
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 142
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variant carriers: 0

GenotypeQuality
all individuals: 3523
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

VQSLOD
type: SiteQuality
SIO_000300: -1.749e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

QD
type: SiteQuality
SIO_000300: 1.587e1

DP
type: SiteQuality
SIO_000300: 2.048857e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15187
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 22407
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.588e-1

DP
type: SiteQuality
SIO_000300: 2.049121e6

FS
type: SiteQuality
SIO_000300: 6.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.605e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.858e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.066e0

QD
type: SiteQuality
SIO_000300: 2.073e1

VQSLOD
type: SiteQuality
SIO_000300: -2.686e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.049008e6

FS
type: SiteQuality
SIO_000300: 1.226e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.048656e6

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.745e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.414e1

FS
type: SiteQuality
SIO_000300: 2.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.539e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
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GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 119
bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15190
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.048709e6

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.353e0

QD
type: SiteQuality
SIO_000300: 1.592e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.697e0

FS
type: SiteQuality
SIO_000300: 2.776e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.421e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 6.208e0

VQSLOD
type: SiteQuality
SIO_000300: -3.166e-1

DP
type: SiteQuality
SIO_000300: 2.048594e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 19

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 2.551250112555152e-4
allele num: 66634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 2.048821e6

FS
type: SiteQuality
SIO_000300: 2.516e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
all individuals: 22062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.503152206544582e-5
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 9.19e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

DP
type: SiteQuality
SIO_000300: 2.049085e6

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3400
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

QD
type: SiteQuality
SIO_000300: 1.58e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.049197e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

FS
type: SiteQuality
SIO_000300: 2.374e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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DP
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MQ
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VQSLOD
type: SiteQuality
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