19-3614538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614538
    reference: chr 19
allele count: 7831
allele frequency: 9.754122863833392e-2
allele num: 80284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2153G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1212G>A
  hgvsp: ENST00000248420.5:c.1212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1212G>A
  hgvsp: ENST00000429344.2:c.1212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1212G>A
  hgvsp: ENST00000585942.1:c.1212G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-46G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.796G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.1008G>A
  hgvsp: ENST00000221899.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.277G>A
  hgvsp: ENST00000589321.1:c.277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 1730
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 660
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 1509
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 3.25e1
  variant carriers: 295
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 18219
  bin: 7.5e0
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.25e1
  variant carriers: 1255
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 1.25e1
  variant carriers: 1440
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 3.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 7901
  bin: 9.75e1
  variant carriers: 6642
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 2.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 5.25e1
  variant carriers: 79
hgvs: p.Ser404Ser
num of homozygotes: 478
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

19-3614539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614539
    reference: chr 19
allele count: 1
allele frequency: 1.289923120582013e-5
allele num: 77524
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1211C>T
  hgvsp: ENSP00000415078.1:p.Ser404Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.1007C>T
  hgvsp: ENSP00000221899.3:p.Ser336Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.795C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2152C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.276C>T
  hgvsp: ENSP00000466600.1:p.Ser93Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1211C>T
  hgvsp: ENSP00000465751.1:p.Ser404Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1211C>T
  hgvsp: ENSP00000248420.5:p.Ser404Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-47C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24851
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser404Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-3614558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614558
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614558
    reference: chr 19
allele count: 1
allele frequency: 1.384888101041436e-5
allele num: 72208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.776G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-66G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.988G>A
  hgvsp: ENSP00000221899.3:p.Val330Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1192G>A
  hgvsp: ENSP00000415078.1:p.Val398Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.257G>A
  hgvsp: ENSP00000466600.1:p.Val87Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2133G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1192G>A
  hgvsp: ENSP00000465751.1:p.Val398Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1192G>A
  hgvsp: ENSP00000248420.5:p.Val398Ile
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val398Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-3614559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614559
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614559
    reference: chr 19
allele count: 3
allele frequency: 4.174900498204793e-5
allele num: 71858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1191C>T
  hgvsp: ENST00000585942.1:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1191C>T
  hgvsp: ENST00000429344.2:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.775C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1191C>T
  hgvsp: ENST00000248420.5:c.1191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-67C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.987C>T
  hgvsp: ENST00000221899.3:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.256C>T
  hgvsp: ENST00000589321.1:c.256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2132C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21715
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser397Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-3614565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614565
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614565
    reference: chr 19
allele count: 1
allele frequency: 1.43139331825599e-5
allele num: 69862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1185C>T
  hgvsp: ENST00000429344.2:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.981C>T
  hgvsp: ENST00000221899.3:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-73C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1185C>T
  hgvsp: ENST00000248420.5:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2126C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1185C>T
  hgvsp: ENST00000585942.1:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.250C>T
  hgvsp: ENST00000589321.1:c.250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.769C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13095
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn395Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-3614566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614566
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614566
    reference: chr 19
allele count: 1
allele frequency: 1.434308663224326e-5
allele num: 69720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.980A>G
  hgvsp: ENSP00000221899.3:p.Asn327Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1184A>G
  hgvsp: ENSP00000415078.1:p.Asn395Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2125A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.768A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1184A>G
  hgvsp: ENSP00000465751.1:p.Asn395Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1184A>G
  hgvsp: ENSP00000248420.5:p.Asn395Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.249A>G
  hgvsp: ENSP00000466600.1:p.Asn84Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-74A>G
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn395Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-3614577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614577
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614577
    reference: chr 19
allele count: 1
allele frequency: 1.5542913985514e-5
allele num: 64338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.969C>T
  hgvsp: ENST00000221899.3:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1173C>T
  hgvsp: ENST00000585942.1:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.757C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1173C>T
  hgvsp: ENST00000248420.5:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2114C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1173C>T
  hgvsp: ENST00000429344.2:c.1173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-85C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.238C>T
  hgvsp: ENST00000589321.1:c.238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32792
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg391Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-3614581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614581
    reference: chr 19
allele count: 3
allele frequency: 4.837773334193382e-5
allele num: 62012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1169G>A
  hgvsp: ENSP00000465751.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.234G>A
  hgvsp: ENSP00000466600.1:p.Arg79His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.753G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1169G>A
  hgvsp: ENSP00000415078.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1169G>A
  hgvsp: ENSP00000248420.5:p.Arg390His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.965G>A
  hgvsp: ENSP00000221899.3:p.Arg322His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2110G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-89G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg390His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

19-3614582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614582
    reference: chr 19
allele count: 2
allele frequency: 3.246753246753247e-5
allele num: 61600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1168C>T
  hgvsp: ENSP00000415078.1:p.Arg390Cys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1168C>T
  hgvsp: ENSP00000465751.1:p.Arg390Cys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1168C>T
  hgvsp: ENSP00000248420.5:p.Arg390Cys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2109C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-90C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.233C>T
  hgvsp: ENSP00000466600.1:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.964C>T
  hgvsp: ENSP00000221899.3:p.Arg322Cys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.752C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23591
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg390Cys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-3614590-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614590
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614590
    reference: chr 19
allele count: 1
allele frequency: 1.752479758858785e-5
allele num: 57062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-98C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-3C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2101C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 1
hgvs: c.1163-3C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-3614593-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614593
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614593
    reference: chr 19
allele count: 1
allele frequency: 1.796622349982034e-5
allele num: 55660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-6C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-101C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-6C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-6C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-6C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2098C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-6C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-6C>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15178
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1163-6C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

19-3614594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614594
    reference: chr 19
allele count: 111
allele frequency: 2.009850076048381e-3
allele num: 55228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-7G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2097G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-7G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-7G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-7G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-7G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-102G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-7G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23268
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15166
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9111
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 2
hgvs: c.1163-7G>A
num of homozygotes: 4
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

19-3614595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614595
    reference: chr 19
allele count: 2
allele frequency: 3.656975681111721e-5
allele num: 54690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-8C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2096C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-8C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-103C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-8C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-8C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-8C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-8C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1163-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-3614598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614598
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614598
    reference: chr 19
allele count: 5
allele frequency: 9.468262384487199e-5
allele num: 52808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-11C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-11C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-11C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-11C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-106C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2093C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-11C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-11C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14750
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22756
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-3614600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614600
    reference: chr 19
allele count: 2
allele frequency: 4.49802087081684e-5
allele num: 44464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-13C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-13C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2091C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-13C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-13C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-13C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-108C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-13C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-3614606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614606
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614606
    reference: chr 19
allele count: 1
allele frequency: 2.242051925922604e-5
allele num: 44602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-19T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-19T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2085T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-19T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-19T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-114T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-19T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-19T>C
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14781
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-3614607-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614607
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614608
    reference: chr 19
allele count: 8
allele frequency: 1.889198507533179e-4
allele num: 42346
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-21dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-21dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-21dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-116dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-21dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-21dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2083dupC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-21dupC
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22495
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

19-3614608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614608
    reference: chr 19
allele count: 2
allele frequency: 4.814404698858986e-5
allele num: 41542
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-21C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-21C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-21C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-21C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-21C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-116C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2083C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-21C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-3614615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614615
    reference: chr 19
allele count: 1
allele frequency: 2.681108906643788e-5
allele num: 37298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-28G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-28G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-28G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-123G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-28G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-28G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-28G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21003
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

19-3614616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614616
    reference: chr 19
allele count: 2
allele frequency: 5.433896647285768e-5
allele num: 36806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-29C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-29C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-29C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-29C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2075C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-29C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-124C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-29C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20658
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-3614616-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614616
    reference: chr 19
allele count: 1
allele frequency: 2.716948323642884e-5
allele num: 36806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2075C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-29C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-124C>A
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18310
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

19-3614618-TTCCACATTTCCTACGTGCTCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614597
    reference: chr 19
allele count: 1
allele frequency: 2.860575547800217e-5
allele num: 34958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: TTCCACATTTCCTACGTGCTCC
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-3614628-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614628
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-41G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-41G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-136G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-41G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2063G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-41G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-41G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-41G>T
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23770
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9720
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19728
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-3614636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3614636
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3614636
    reference: chr 19
allele count: 3
allele frequency: 1.114661514453444e-4
allele num: 26914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1163-49G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000591978
  gene symbol: CACTIN
  hgvsc: ENST00000591978.1:n.2055G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.228-49G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.203-144G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1163-49G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.959-49G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.747-49G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1163-49G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7516
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18734
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-3618834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618834
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618834
    reference: chr 19
allele count: 2
allele frequency: 1.155535012710885e-4
allele num: 17308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+39G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+39G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-3618841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618841
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618841
    reference: chr 19
allele count: 1
allele frequency: 5.669577049552103e-5
allele num: 17638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+32G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+32G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22436
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-3618848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618848
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618848
    reference: chr 19
allele count: 1
allele frequency: 5.595970900951315e-5
allele num: 17870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+25T>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+25T>C
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-3618855-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618855
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+18C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+18C>G
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-3618864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618864
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618864
    reference: chr 19
allele count: 1
allele frequency: 5.194265530853937e-5
allele num: 19252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+9G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+9G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34046
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-3618867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618867
    reference: chr 19
allele count: 10
allele frequency: 5.095281769081831e-4
allele num: 19626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.227+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.202+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1162+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.746+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1162+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1162+6G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.958+6G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34839
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1162+6G>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-3618876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618876
    reference: chr 19
allele count: 1
allele frequency: 4.925137903861308e-5
allele num: 20304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.199C>T
  hgvsp: ENSP00000467788.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.224C>T
  hgvsp: ENSP00000466600.1:p.Pro76Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1159C>T
  hgvsp: ENSP00000415078.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.955C>T
  hgvsp: ENSP00000221899.3:p.Pro319Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1159C>T
  hgvsp: ENSP00000465751.1:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.743C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1159C>T
  hgvsp: ENSP00000248420.5:p.Pro387Ser
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32960
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4925
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro387Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-3618877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618877
    reference: chr 19
allele count: 1
allele frequency: 4.914487910359741e-5
allele num: 20348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1158G>A
  hgvsp: ENST00000429344.2:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1158G>A
  hgvsp: ENST00000585942.1:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.198G>A
  hgvsp: ENST00000588749.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1158G>A
  hgvsp: ENST00000248420.5:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.223G>A
  hgvsp: ENST00000589321.1:c.223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.954G>A
  hgvsp: ENST00000221899.3:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.742G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly386Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-3618887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618887
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618887
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1148C>T
  hgvsp: ENSP00000465751.1:p.Ser383Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1148C>T
  hgvsp: ENSP00000248420.5:p.Ser383Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.188C>T
  hgvsp: ENSP00000467788.1:p.Ser63Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1148C>T
  hgvsp: ENSP00000415078.1:p.Ser383Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.944C>T
  hgvsp: ENSP00000221899.3:p.Ser315Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.213C>T
  hgvsp: ENSP00000466600.1:p.Ser72Leu
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.732C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9530
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser383Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-3618892-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618892
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618892
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.939G>T
  hgvsp: ENSP00000221899.3:p.Glu313Asp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.727G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1143G>T
  hgvsp: ENSP00000465751.1:p.Glu381Asp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.208G>T
  hgvsp: ENSP00000466600.1:p.Glu70Asp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1143G>T
  hgvsp: ENSP00000415078.1:p.Glu381Asp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1143G>T
  hgvsp: ENSP00000248420.5:p.Glu381Asp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.183G>T
  hgvsp: ENSP00000467788.1:p.Glu61Asp
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33413
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu381Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-3618902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618902
    reference: chr 19
allele count: 2
allele frequency: 9.242998428690267e-5
allele num: 21638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.198G>A
  hgvsp: ENSP00000466600.1:p.Arg67His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1133G>A
  hgvsp: ENSP00000248420.5:p.Arg378His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.929G>A
  hgvsp: ENSP00000221899.3:p.Arg310His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1133G>A
  hgvsp: ENSP00000465751.1:p.Arg378His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1133G>A
  hgvsp: ENSP00000415078.1:p.Arg378His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.173G>A
  hgvsp: ENSP00000467788.1:p.Arg58His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.717G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31625
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg378His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-3618913-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618913
    reference: chr 19
allele count: 1
allele frequency: 4.520795660036166e-5
allele num: 22120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.162C>A
  hgvsp: ENST00000588749.1:c.162C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.706C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.187C>A
  hgvsp: ENST00000589321.1:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.918C>A
  hgvsp: ENST00000221899.3:c.918C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1122C>A
  hgvsp: ENST00000429344.2:c.1122C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1122C>A
  hgvsp: ENST00000585942.1:c.1122C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1122C>A
  hgvsp: ENST00000248420.5:c.1122C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14533
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile374Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-3618919-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618919
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618919
    reference: chr 19
allele count: 1
allele frequency: 4.463488662738796e-5
allele num: 22404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1116C>T
  hgvsp: ENST00000585942.1:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.700C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.912C>T
  hgvsp: ENST00000221899.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1116C>T
  hgvsp: ENST00000248420.5:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1116C>T
  hgvsp: ENST00000429344.2:c.1116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.156C>T
  hgvsp: ENST00000588749.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.181C>T
  hgvsp: ENST00000589321.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26672
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp372Asp
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-3618924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618924
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618924
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 22602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.907G>A
  hgvsp: ENSP00000221899.3:p.Glu303Lys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.151G>A
  hgvsp: ENSP00000467788.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1111G>A
  hgvsp: ENSP00000248420.5:p.Glu371Lys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1111G>A
  hgvsp: ENSP00000415078.1:p.Glu371Lys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.695G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1111G>A
  hgvsp: ENSP00000465751.1:p.Glu371Lys
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.176G>A
  hgvsp: ENSP00000466600.1:p.Glu60Lys
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu371Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-3618928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618928
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618928
    reference: chr 19
allele count: 2288
allele frequency: 9.590074608097912e-2
allele num: 23858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.691C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.147C>T
  hgvsp: ENST00000588749.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1107C>T
  hgvsp: ENST00000248420.5:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1107C>T
  hgvsp: ENST00000585942.1:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.172C>T
  hgvsp: ENST00000589321.1:c.172C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.903C>T
  hgvsp: ENST00000221899.3:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1107C>T
  hgvsp: ENST00000429344.2:c.1107C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 19625
  bin: 7.5e0
  variant carriers: 1476
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 25141
  bin: 2.5e0
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 118
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 23693
  bin: 7.5e0
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 2.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.25e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 26
hgvs: p.Ile369Ile
num of homozygotes: 121
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-3618932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618932
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618932
    reference: chr 19
allele count: 1
allele frequency: 4.307745326096321e-5
allele num: 23214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.143C>T
  hgvsp: ENSP00000467788.1:p.Thr48Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1103C>T
  hgvsp: ENSP00000465751.1:p.Thr368Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1103C>T
  hgvsp: ENSP00000248420.5:p.Thr368Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1103C>T
  hgvsp: ENSP00000415078.1:p.Thr368Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.899C>T
  hgvsp: ENSP00000221899.3:p.Thr300Ile
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.687C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.168C>T
  hgvsp: ENSP00000466600.1:p.Thr57Ile
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26075
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr368Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-3618934-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618934
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618934
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.897C>A
  hgvsp: ENST00000221899.3:c.897C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1101C>A
  hgvsp: ENST00000248420.5:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.685C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1101C>A
  hgvsp: ENST00000585942.1:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.166C>A
  hgvsp: ENST00000589321.1:c.166C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1101C>A
  hgvsp: ENST00000429344.2:c.1101C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.141C>A
  hgvsp: ENST00000588749.1:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 27051
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr367Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS

19-3618945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618945
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1090C>T
  hgvsp: ENSP00000248420.5:p.Arg364Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1090C>T
  hgvsp: ENSP00000415078.1:p.Arg364Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.155C>T
  hgvsp: ENSP00000466600.1:p.Arg53Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1090C>T
  hgvsp: ENSP00000465751.1:p.Arg364Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.886C>T
  hgvsp: ENSP00000221899.3:p.Arg296Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.130C>T
  hgvsp: ENSP00000467788.1:p.Arg44Trp
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.674C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16641
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg364Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-3618955-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618955
    reference: chr 19
allele count: 2
allele frequency: 8.713078330574191e-5
allele num: 22954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.120C>T
  hgvsp: ENST00000588749.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1080C>T
  hgvsp: ENST00000585942.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.876C>T
  hgvsp: ENST00000221899.3:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1080C>T
  hgvsp: ENST00000248420.5:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1080C>T
  hgvsp: ENST00000429344.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.664C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.145C>T
  hgvsp: ENST00000589321.1:c.145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14237
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11936
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala360Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

19-3618958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618958
    reference: chr 19
allele count: 1
allele frequency: 4.363001745200698e-5
allele num: 22920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.873C>T
  hgvsp: ENST00000221899.3:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.142C>T
  hgvsp: ENST00000589321.1:c.142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1077C>T
  hgvsp: ENST00000429344.2:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.117C>T
  hgvsp: ENST00000588749.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1077C>T
  hgvsp: ENST00000248420.5:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1077C>T
  hgvsp: ENST00000585942.1:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.661C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30588
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn359Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

19-3618973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618973
    reference: chr 19
allele count: 1
allele frequency: 4.46508305054474e-5
allele num: 22396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1062G>A
  hgvsp: ENST00000585942.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1062G>A
  hgvsp: ENST00000429344.2:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.127G>A
  hgvsp: ENST00000589321.1:c.127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.646G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.858G>A
  hgvsp: ENST00000221899.3:c.858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1062G>A
  hgvsp: ENST00000248420.5:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.102G>A
  hgvsp: ENST00000588749.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu354Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

19-3618989-TGGGGGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618989
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618982
    reference: chr 19
allele count: 1
allele frequency: 4.671150971599402e-5
allele num: 21408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-9_1048-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-9_1048-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-9_844-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-9_1048-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-9_88-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-9_632-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-9_113-3delTGCCCCC
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 32267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1048-9_1048-3delTGCCCCC
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TGGGGGCA
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-3618999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3618999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618999
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-12C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-12C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-3619001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619001
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619001
    reference: chr 19
allele count: 1
allele frequency: 4.777830864787386e-5
allele num: 20930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-14C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-14C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-3619001-GCAGGGGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619001
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618994
    reference: chr 19
allele count: 1
allele frequency: 4.777830864787386e-5
allele num: 20930
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-21_1048-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-21_632-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-21_88-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-21_844-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-21_113-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-21_1048-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-21_1048-15delACCCCTG
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: GCAGGGGT
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS

19-3619004-GGGGTCAGGACAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619004
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3618992
    reference: chr 19
allele count: 8
allele frequency: 3.826286588865506e-4
allele num: 20908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27826
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: GGGGTCAGGACAC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum

19-3619007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619007
    reference: chr 19
allele count: 9
allele frequency: 4.32152117545376e-4
allele num: 20826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-20C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-20C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30677
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26706
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4773
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

19-3619008-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619008
    reference: chr 19
allele count: 72
allele frequency: 3.457548981943911e-3
allele num: 20824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-21A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-21A>C
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30708
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26924
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-3619016-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619016
    reference: chr 19
allele count: 21
allele frequency: 1.015473887814313e-3
allele num: 20680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-29G>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-29G>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4453
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-3619016-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619016
    reference: chr 19
allele count: 3
allele frequency: 1.450676982591876e-4
allele num: 20680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-29G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-29G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-3619026-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619026
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-39A>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-39A>G
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24238
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-3619031-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619031
    reference: chr 19
allele count: 151
allele frequency: 8.661236663989904e-3
allele num: 17434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-44A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-44A>C
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 28911
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10037
  bin: 2.5e0
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 20998
  bin: 7.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 3.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 1.25e1
  variant carriers: 12
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

19-3619032-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619032
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619032
    reference: chr 19
allele count: 10
allele frequency: 4.824392126592049e-4
allele num: 20728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.632-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.88-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1048-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1048-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.113-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1048-45C>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.844-45C>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

19-3619036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619036
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619036
    reference: chr 19
allele count: 1
allele frequency: 4.804920238324044e-5
allele num: 20812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1047+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.843+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1047+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.631+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.87+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.112+42C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1047+42C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30717
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26576
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-3619037-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619037
    reference: chr 19
allele count: 52
allele frequency: 2.735402419779064e-3
allele num: 19010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1047+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.87+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.631+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1047+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.843+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.112+41A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1047+41A>C
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 30404
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22809
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-3619043-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619043
    reference: chr 19
allele count: 3
allele frequency: 1.477978125923736e-4
allele num: 20298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.631+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.87+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.843+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1047+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1047+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.112+35A>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1047+35A>C
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26825
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-3619078-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619078
    reference: chr 19
allele count: 1
allele frequency: 4.429875077522814e-5
allele num: 22574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.843G>T
  hgvsp: ENSP00000221899.3:p.Gln281His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.112G>T
  hgvsp: ENSP00000466600.1:p.Gln38His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1047G>T
  hgvsp: ENSP00000248420.5:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.87G>T
  hgvsp: ENSP00000467788.1:p.Gln29His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1047G>T
  hgvsp: ENSP00000465751.1:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1047G>T
  hgvsp: ENSP00000415078.1:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.631G>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln349His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-3619078-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619078
    reference: chr 19
allele count: 1
allele frequency: 4.429875077522814e-5
allele num: 22574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.631G>C
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1047G>C
  hgvsp: ENSP00000248420.5:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1047G>C
  hgvsp: ENSP00000415078.1:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1047G>C
  hgvsp: ENSP00000465751.1:p.Gln349His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.843G>C
  hgvsp: ENSP00000221899.3:p.Gln281His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.87G>C
  hgvsp: ENSP00000467788.1:p.Gln29His
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.112G>C
  hgvsp: ENSP00000466600.1:p.Gln38His
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln349His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-3619093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619093
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619093
    reference: chr 19
allele count: 6
allele frequency: 2.444390124663896e-4
allele num: 24546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1032G>A
  hgvsp: ENST00000585942.1:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.828G>A
  hgvsp: ENST00000221899.3:c.828G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.72G>A
  hgvsp: ENST00000588749.1:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1032G>A
  hgvsp: ENST00000429344.2:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.97G>A
  hgvsp: ENST00000589321.1:c.97G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.616G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1032G>A
  hgvsp: ENST00000248420.5:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23798
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20833
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22189
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Leu344Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

19-3619098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619098
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25818
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1027G>A
  hgvsp: ENSP00000415078.1:p.Asp343Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.823G>A
  hgvsp: ENSP00000221899.3:p.Asp275Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.611G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.67G>A
  hgvsp: ENSP00000467788.1:p.Asp23Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1027G>A
  hgvsp: ENSP00000248420.5:p.Asp343Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1027G>A
  hgvsp: ENSP00000465751.1:p.Asp343Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.92G>A
  hgvsp: ENSP00000466600.1:p.Asp32Asn
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26596
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp343Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-3619107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619107
    reference: chr 19
allele count: 1
allele frequency: 3.545093590470789e-5
allele num: 28208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1018G>A
  hgvsp: ENSP00000248420.5:p.Asp340Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1018G>A
  hgvsp: ENSP00000415078.1:p.Asp340Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.814G>A
  hgvsp: ENSP00000221899.3:p.Asp272Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1018G>A
  hgvsp: ENSP00000465751.1:p.Asp340Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.83G>A
  hgvsp: ENSP00000466600.1:p.Asp29Asn
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.602G>A
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.58G>A
  hgvsp: ENSP00000467788.1:p.Asp20Asn
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp340Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-3619108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619108
    reference: chr 19
allele count: 1
allele frequency: 3.429825764851146e-5
allele num: 29156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1017C>T
  hgvsp: ENST00000248420.5:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.813C>T
  hgvsp: ENST00000221899.3:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.57C>T
  hgvsp: ENST00000588749.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.82C>T
  hgvsp: ENST00000589321.1:c.82C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1017C>T
  hgvsp: ENST00000429344.2:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1017C>T
  hgvsp: ENST00000585942.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.601C>T
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12803
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala339Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-3619114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619114
    reference: chr 19
allele count: 1
allele frequency: 3.049710277523635e-5
allele num: 32790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.807C>T
  hgvsp: ENST00000221899.3:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.51C>T
  hgvsp: ENST00000588749.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.76C>T
  hgvsp: ENST00000589321.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1011C>T
  hgvsp: ENST00000585942.1:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1011C>T
  hgvsp: ENST00000429344.2:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.595C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1011C>T
  hgvsp: ENST00000248420.5:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr337Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-3619115-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619115
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619115
    reference: chr 19
allele count: 1
allele frequency: 2.975659108492531e-5
allele num: 33606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1010C>G
  hgvsp: ENSP00000465751.1:p.Thr337Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.806C>G
  hgvsp: ENSP00000221899.3:p.Thr269Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1010C>G
  hgvsp: ENSP00000248420.5:p.Thr337Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.75C>G
  hgvsp: ENSP00000466600.1:p.Thr26Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.594C>G
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1010C>G
  hgvsp: ENSP00000415078.1:p.Thr337Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.50C>G
  hgvsp: ENSP00000467788.1:p.Thr17Ser
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr337Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-3619117-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619117
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619117
    reference: chr 19
allele count: 1
allele frequency: 2.852741484566669e-5
allele num: 35054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.804C>T
  hgvsp: ENST00000221899.3:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.48C>T
  hgvsp: ENST00000588749.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.73C>T
  hgvsp: ENST00000589321.1:c.73C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.592C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1008C>T
  hgvsp: ENST00000429344.2:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1008C>T
  hgvsp: ENST00000585942.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1008C>T
  hgvsp: ENST00000248420.5:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu336Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

19-3619122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619122
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619122
    reference: chr 19
allele count: 1
allele frequency: 2.61972126165776e-5
allele num: 38172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.68G>A
  hgvsp: ENSP00000466600.1:p.Gly24Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.43G>A
  hgvsp: ENSP00000467788.1:p.Gly15Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.799G>A
  hgvsp: ENSP00000221899.3:p.Gly267Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1003G>A
  hgvsp: ENSP00000248420.5:p.Gly335Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1003G>A
  hgvsp: ENSP00000465751.1:p.Gly335Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1003G>A
  hgvsp: ENSP00000415078.1:p.Gly335Ser
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.587G>A
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly335Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-3619123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619123
    reference: chr 19
allele count: 3
allele frequency: 7.61112238684798e-5
allele num: 39416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000248420
  ensembl transcript: ENST00000248420
  gene symbol: CACTIN
  hgvsc: ENST00000248420.5:c.1002C>T
  hgvsp: ENST00000248420.5:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000467788
  ensembl transcript: ENST00000588749
  gene symbol: CACTIN
  hgvsc: ENST00000588749.1:c.42C>T
  hgvsp: ENST00000588749.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105298
  ensembl transcript: ENST00000587175
  gene symbol: CACTIN
  hgvsc: ENST00000587175.1:n.586C>T
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000221899
  ensembl transcript: ENST00000221899
  gene symbol: CACTIN
  hgvsc: ENST00000221899.3:c.798C>T
  hgvsp: ENST00000221899.3:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000465751
  ensembl transcript: ENST00000585942
  gene symbol: CACTIN
  hgvsc: ENST00000585942.1:c.1002C>T
  hgvsp: ENST00000585942.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000466600
  ensembl transcript: ENST00000589321
  gene symbol: CACTIN
  hgvsc: ENST00000589321.1:c.67C>T
  hgvsp: ENST00000589321.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105298
  ensembl protein: ENSP00000415078
  ensembl transcript: ENST00000429344
  gene symbol: CACTIN
  hgvsc: ENST00000429344.2:c.1002C>T
  hgvsp: ENST00000429344.2:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29938
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn334Asn
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-3619124-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3619124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3619124
    reference: chr 19
allele count: 2
allele frequency: 4.928536224741252e-5
allele num: 40580
alternate allele: C
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn334Ser
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1335
bin: 7.5e0
variant carriers: 28

GenotypeQuality
all individuals: 568
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 683
bin: 7.25e1
variant carriers: 75

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 120

GenotypeQuality
all individuals: 21526
bin: 2.25e1
variant carriers: 53

GenotypeQuality
all individuals: 338
bin: 1.25e1
variant carriers: 32

GenotypeQuality
all individuals: 500
bin: 1.75e1
variant carriers: 35

GenotypeQuality
all individuals: 568
bin: 5.75e1
variant carriers: 71

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 56

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 120

GenotypeQuality
all individuals: 1969
bin: 6.75e1
variant carriers: 62

GenotypeQuality
all individuals: 17541
bin: 6.25e1
variant carriers: 91

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 116

GenotypeQuality
all individuals: 795
bin: 7.75e1
variant carriers: 90

South Asian
type: Population
allele count: 1856
allele frequency: 1.494363929146538e-1
allele num: 12420
num of homozygotes: 129

Other
type: Population
allele count: 63
allele frequency: 1.012861736334405e-1
allele num: 622
num of homozygotes: 5

African
type: Population
allele count: 1380
allele frequency: 2.09471766848816e-1
allele num: 6588
num of homozygotes: 117

European (Finnish)
type: Population
allele count: 127
allele frequency: 3.358011634056055e-2
allele num: 3782
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2437
allele frequency: 5.519568762456967e-2
allele num: 44152
num of homozygotes: 50

Latino
type: Population
allele count: 222
allele frequency: 3.572578049565497e-2
allele num: 6214
num of homozygotes: 3

East Asian
type: Population
allele count: 1746
allele frequency: 2.683676606209653e-1
allele num: 6506
num of homozygotes: 172

QD
type: SiteQuality
SIO_000300: 1.353e1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 1.314533e6

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

GenotypeQuality
all individuals: 319
bin: 4.25e1
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3738
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.41467519353753e-5
allele num: 11884
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East Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.21e0

MQRankSum
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FS
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VQSLOD
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DP
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
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SIO_000300: -1.361e0

GenotypeQuality
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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

South Asian
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allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3428
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5630
num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.222e0

QD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.73912e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-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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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 1.78826895565093e-4
allele num: 5592
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.511048613901165e-5
allele num: 39824
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
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East Asian
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allele count: 1
allele frequency: 1.881821603312006e-4
allele num: 5314
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.589868434683518e-5
allele num: 38612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.658e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.38979e5

FS
type: SiteQuality
SIO_000300: 3.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.597537534417372e-5
allele num: 38498
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5162
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 9.097525473071325e-5
allele num: 10992
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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QD
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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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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.957180033120416e-5
allele num: 33816
num of homozygotes: 0

South Asian
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allele frequency: 1.845018450184502e-4
allele num: 10840
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African
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3004
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 8.36197e5

QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
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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
type: Population
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allele num: 480
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
type: Population
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East Asian
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allele frequency: 4.557885141294439e-4
allele num: 4388
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
type: Population
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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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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GenotypeQuality
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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.565418163160595e-4
allele num: 3898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.475e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.733e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.65e-1

DP
type: SiteQuality
SIO_000300: 7.81534e5

FS
type: SiteQuality
SIO_000300: 3.256e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
all individuals: 429
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9087
bin: 7.5e0
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GenotypeQuality
all individuals: 1703
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4997
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 7.66256e5

MQ
type: SiteQuality
SIO_000300: 5.805e1

QD
type: SiteQuality
SIO_000300: 1.817e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.069e0

MQRankSum
type: SiteQuality
SIO_000300: -1.826e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1614
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 9.75e1
variant carriers: 98

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.343183344526528e-4
allele num: 29780
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.243838489774515e-4
allele num: 3814
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.272727272727273e-3
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 103
allele frequency: 9.970958373668926e-3
allele num: 10330
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.279981760145919e-4
allele num: 4386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 7.65882e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1603
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1473
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9555
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.776904310111141e-5
allele num: 29512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

FS
type: SiteQuality
SIO_000300: 3.975e0

DP
type: SiteQuality
SIO_000300: 7.57209e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.62e-1

GenotypeQuality
all individuals: 614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
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variant carriers: 0

GenotypeQuality
all individuals: 2395
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 1

GenotypeQuality
all individuals: 11080
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variant carriers: 0

GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 1607
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 1

GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 9.871668311944718e-5
allele num: 10130
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 9.492168960607499e-4
allele num: 4214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.212e0

QD
type: SiteQuality
SIO_000300: 1.437e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 7.34844e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 1399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 539
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
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variant carriers: 0

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 991
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variant carriers: 0

GenotypeQuality
all individuals: 549
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GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 3497
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GenotypeQuality
all individuals: 195
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variant carriers: 0

GenotypeQuality
all individuals: 2018
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variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.582954252853832e-5
allele num: 23302
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 6.88687e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 6.377e0

QD
type: SiteQuality
SIO_000300: 1.563e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 780
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GenotypeQuality
all individuals: 28
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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
all individuals: 1414
bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.711952487008166e-4
allele num: 2694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

VQSLOD
type: SiteQuality
SIO_000300: -2.176e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.81e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 6.79846e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
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variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.723064355087592e-4
allele num: 22034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.130833155763904e-4
allele num: 9386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

QD
type: SiteQuality
SIO_000300: 6.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 6.73221e5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2729
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 423
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GenotypeQuality
all individuals: 712
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GenotypeQuality
all individuals: 3687
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variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.233700254022015e-4
allele num: 2362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2116
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.071352046282408e-4
allele num: 9334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 8.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.68577e5

GenotypeQuality
all individuals: 1208
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
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GenotypeQuality
all individuals: 1375
bin: 2.5e0
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 17999
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GenotypeQuality
all individuals: 3872
bin: 1.25e1
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GenotypeQuality
all individuals: 3401
bin: 6.25e1
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GenotypeQuality
all individuals: 705
bin: 7.75e1
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GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 1385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.243288590604027e-5
allele num: 19072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.143e-1

DP
type: SiteQuality
SIO_000300: 6.30045e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.434782608695652e-4
allele num: 1840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.332195798229711e-5
allele num: 18754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 6.24226e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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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: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1205
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.332195798229711e-5
allele num: 18754
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 2.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.03e-2

DP
type: SiteQuality
SIO_000300: 6.24226e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.692167577413479e-5
allele num: 17568
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.05854e5

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 4.712e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

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

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

QD
type: SiteQuality
SIO_000300: 1.075e1

DP
type: SiteQuality
SIO_000300: 5.56764e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 573
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12418
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.311188811188811e-3
allele num: 2288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.48523e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.034e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

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
all individuals: 918
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.863813229571985e-4
allele num: 2056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.67897918065816e-4
allele num: 5956
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.73211e5

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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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 1.638806948541462e-4
allele num: 6102
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2062
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.110000000000001e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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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)
type: Population
allele count: 1
allele frequency: 1.259445843828715e-4
allele num: 7940
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.95052e5

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.353e0

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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4926
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GenotypeQuality
all individuals: 133
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GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 294
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6842
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.686035613870666e-4
allele num: 2134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.42803e5

FS
type: SiteQuality
SIO_000300: 5.572e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.580000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.131e1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 452
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32285
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 5305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2309
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3716
bin: 2.25e1
variant carriers: 2

African
type: Population
allele count: 6
allele frequency: 2.790697674418605e-3
allele num: 2150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.417233560090703e-4
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.362390739428301e-4
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.2531328320802e-3
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 3.56616e5

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

FS
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.149689583812371e-4
allele num: 8698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.282e0

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 3.83081e5

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

GenotypeQuality
all individuals: 1103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33083
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5169
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7426
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.625346901017577e-4
allele num: 2162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.987e0

VQSLOD
type: SiteQuality
SIO_000300: -1.715e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.308e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQ
type: SiteQuality
SIO_000300: 5.672e1

MQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

QD
type: SiteQuality
SIO_000300: 1.917e1

DP
type: SiteQuality
SIO_000300: 3.86083e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

GenotypeQuality
all individuals: 1209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

QD
type: SiteQuality
SIO_000300: 8.18e0

DP
type: SiteQuality
SIO_000300: 4.1776e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31877
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 9106
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6685
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 7.365e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

DP
type: SiteQuality
SIO_000300: 4.29313e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.287e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1683
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 828
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11178
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 425
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 968
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.484304932735426e-4
allele num: 2230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.082954299328568e-4
allele num: 9234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.04e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 2.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

DP
type: SiteQuality
SIO_000300: 4.49223e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
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variant carriers: 0

GenotypeQuality
all individuals: 27905
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variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.428697962798937e-4
allele num: 2258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

FS
type: SiteQuality
SIO_000300: 8.891999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.549e0

QD
type: SiteQuality
SIO_000300: 1.694e1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.659e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

DP
type: SiteQuality
SIO_000300: 4.71978e5

MQ
type: SiteQuality
SIO_000300: 5.918e1

GenotypeQuality
all individuals: 733
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
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GenotypeQuality
all individuals: 670
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GenotypeQuality
all individuals: 406
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.041883725776203e-4
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

FS
type: SiteQuality
SIO_000300: 4.342e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.16e-2

QD
type: SiteQuality
SIO_000300: 1.257e1

DP
type: SiteQuality
SIO_000300: 4.83076e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.317e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26019
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
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GenotypeQuality
all individuals: 16693
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.89621e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

QD
type: SiteQuality
SIO_000300: 6.53e0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 118

GenotypeQuality
all individuals: 223
bin: 3.25e1
variant carriers: 114

GenotypeQuality
all individuals: 408
bin: 7.75e1
variant carriers: 75

GenotypeQuality
all individuals: 1460
bin: 1.75e1
variant carriers: 184

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 184

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 72

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 47

GenotypeQuality
all individuals: 15908
bin: 2.25e1
variant carriers: 160

GenotypeQuality
all individuals: 2558
bin: 9.75e1
variant carriers: 2003

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1269
bin: 6.75e1
variant carriers: 213

GenotypeQuality
all individuals: 6511
bin: 6.25e1
variant carriers: 190

East Asian
type: Population
allele count: 382
allele frequency: 3.220910623946037e-1
allele num: 1186
num of homozygotes: 29

South Asian
type: Population
allele count: 1048
allele frequency: 1.297029702970297e-1
allele num: 8080
num of homozygotes: 73

Latino
type: Population
allele count: 28
allele frequency: 5.204460966542751e-2
allele num: 538
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 1.16079105760963e-2
allele num: 2326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 3.184165232358004e-2
allele num: 1162
num of homozygotes: 1

Other
type: Population
allele count: 28
allele frequency: 1.228070175438596e-1
allele num: 228
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 738
allele frequency: 7.13871154962275e-2
allele num: 10338
num of homozygotes: 16

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

DP
type: SiteQuality
SIO_000300: 5.64497e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16793
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.325259515570934e-4
allele num: 2312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.95e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 4.9946e5

MQ
type: SiteQuality
SIO_000300: 5.703e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26306
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

QD
type: SiteQuality
SIO_000300: 7.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 4.97537e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 808
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14019
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.874e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -3.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.51e-2

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29477
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.254075746175069e-4
allele num: 7974
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 4.72813e5

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.69e0

VQSLOD
type: SiteQuality
SIO_000300: -1.202e0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30152
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.002405773857257e-4
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

DP
type: SiteQuality
SIO_000300: 4.6867e5

MQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
all individuals: 864
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.416961130742049e-4
allele num: 2264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

DP
type: SiteQuality
SIO_000300: 4.34378e5

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 2.062e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5541
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506024096385542e-3
allele num: 664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 6.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

VQSLOD
type: SiteQuality
SIO_000300: -7.16e-1

FS
type: SiteQuality
SIO_000300: 7.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.51e-2

MQ
type: SiteQuality
SIO_000300: 5.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 3.86633e5

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.193e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 3.66469e5

GenotypeQuality
all individuals: 832
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.694835680751174e-4
allele num: 2130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.06e-2

FS
type: SiteQuality
SIO_000300: 1.6013e1

VQSLOD
type: SiteQuality
SIO_000300: -7.391e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.997e1

DP
type: SiteQuality
SIO_000300: 3.62069e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

GenotypeQuality
all individuals: 5055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27117
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.694835680751174e-4
allele num: 2130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 4.997e1

VQSLOD
type: SiteQuality
SIO_000300: -7.391e-1

QD
type: SiteQuality
SIO_000300: 7.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 3.62069e5

FS
type: SiteQuality
SIO_000300: 1.6013e1

GenotypeQuality
all individuals: 506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 9.155413138017853e-4
allele num: 8738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.212e0

VQSLOD
type: SiteQuality
SIO_000300: -9.552e-1

QD
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 2.735e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.66e-2

DP
type: SiteQuality
SIO_000300: 3.6081e5

MQ
type: SiteQuality
SIO_000300: 5.446e1

MQRankSum
type: SiteQuality
SIO_000300: -3.418e0

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 3.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2142
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.862992531547772e-4
allele num: 7766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 5.756389592447617e-4
allele num: 8686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 9.746588693957114e-4
allele num: 1026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 2.595e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 3.55538e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.594e1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 172
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 71

GenotypeQuality
all individuals: 697
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 538
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 308
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 62
allele frequency: 2.899906454630496e-2
allele num: 2138
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.512562814070352e-3
allele num: 398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 3.944773175542407e-3
allele num: 1014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.448275862068965e-4
allele num: 8700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.575328354365182e-4
allele num: 7766
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

DP
type: SiteQuality
SIO_000300: 3.56788e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
all individuals: 26447
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 1.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 9.859154929577466e-3
allele num: 2130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.19e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 3.4995e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 2200
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26447
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 2.946954813359528e-3
allele num: 1018
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

FS
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 3.4995e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeQuality
all individuals: 732
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

QD
type: SiteQuality
SIO_000300: 5.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.307e0

FS
type: SiteQuality
SIO_000300: 2.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

DP
type: SiteQuality
SIO_000300: 3.39369e5

GenotypeQuality
all individuals: 674
bin: 1.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1526
bin: 2.25e1
variant carriers: 25

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2824
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 398
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 176
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 12

GenotypeQuality
all individuals: 512
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 168
bin: 7.75e1
variant carriers: 6

Latino
type: Population
allele count: 1
allele frequency: 2.73224043715847e-3
allele num: 366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 9.844559585492228e-2
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.861003861003861e-3
allele num: 518
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 1.656804733727811e-2
allele num: 1690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 82
allele frequency: 1.164441919909117e-2
allele num: 7042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.218e2

QD
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 3.49849e5

FS
type: SiteQuality
SIO_000300: 1.66512e2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.950000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.75e1
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GenotypeQuality
all individuals: 262
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 758
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
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GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 10
allele frequency: 1.311647429171039e-3
allele num: 7624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.366e1

VQSLOD
type: SiteQuality
SIO_000300: -6.281e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.47414e5

FS
type: SiteQuality
SIO_000300: 9.407999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

GenotypeQuality
all individuals: 544
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
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GenotypeQuality
all individuals: 352
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.154201292705448e-4
allele num: 8664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

DP
type: SiteQuality
SIO_000300: 3.51633e5

MQRankSum
type: SiteQuality
SIO_000300: -1.531e0

FS
type: SiteQuality
SIO_000300: 1.444e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 8759
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 750
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 3

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 688
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 3.323485967503693e-3
allele num: 8124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.36986301369863e-4
allele num: 7300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 6.557377049180328e-2
allele num: 366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.09474e2

DP
type: SiteQuality
SIO_000300: 3.48745e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.411e0

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.91e-2

QD
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 232
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4069
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GenotypeQuality
all individuals: 254
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.02312e2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.752e0

VQSLOD
type: SiteQuality
SIO_000300: -1.811e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.733e1

MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.718e0

DP
type: SiteQuality
SIO_000300: 3.60742e5

QD
type: SiteQuality
SIO_000300: 3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.91e-2

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12014
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 2.5e0
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GenotypeQuality
all individuals: 6137
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variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
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GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 97
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GenotypeQuality
all individuals: 779
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variant carriers: 1

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.040366208905535e-4
allele num: 9612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.68178e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.52e-2

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 6137
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variant carriers: 0

GenotypeQuality
all individuals: 779
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GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 1348
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GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 12014
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variant carriers: 0

GenotypeQuality
all individuals: 256
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GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 1132
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.432624113475177e-4
allele num: 2256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.002e-1

DP
type: SiteQuality
SIO_000300: 4.68178e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.345e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.52e-2

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 934
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GenotypeQuality
all individuals: 7035
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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: 724
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variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 7.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 4.621072088724584e-4
allele num: 10820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.082725060827251e-4
allele num: 1644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.2943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 5.40696e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.484e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 384
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 280
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GenotypeQuality
all individuals: 1183
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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: 780
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GenotypeQuality
all individuals: 39
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.64958e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: -1.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 116
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1140
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: 266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.579202667879339e-5
allele num: 13194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1868
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

FS
type: SiteQuality
SIO_000300: 3.809e0

DP
type: SiteQuality
SIO_000300: 6.09631e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.034e1

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.96e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 404
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GenotypeQuality
all individuals: 123
bin: 4.25e1
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GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 1281
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GenotypeQuality
all individuals: 779
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GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.209805335255949e-5
allele num: 13870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1894
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.21774e5

FS
type: SiteQuality
SIO_000300: 6.694e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
all individuals: 8840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.401360544217687e-3
allele num: 294
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.61837e5

VQSLOD
type: SiteQuality
SIO_000300: -4.201e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

FS
type: SiteQuality
SIO_000300: 7.684e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.688e1

GenotypeQuality
all individuals: 466
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8833
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.908070424199456e-5
allele num: 16926
num of homozygotes: 0

South 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: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2996
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

FS
type: SiteQuality
SIO_000300: 6.864e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.989e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.6711e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
all individuals: 775
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7938
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.615453728661276e-5
allele num: 17808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2146
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 6.78648e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

FS
type: SiteQuality
SIO_000300: 6.447e0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 9723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.036768409388536e-5
allele num: 19854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e0

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 7.0698e5

VQSLOD
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 3.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 7.15e0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33017
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.99001996007984e-4
allele num: 2004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.833252779120348e-5
allele num: 20690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.117568171658471e-4
allele num: 8948
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.44e-2

FS
type: SiteQuality
SIO_000300: 3.681e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

DP
type: SiteQuality
SIO_000300: 7.18906e5

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 1.052e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0