16-2122864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122864
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122864
    reference: chr 16
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2235G>A
  hgvsp: ENST00000219476.3:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.269G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2124G>A
  hgvsp: ENST00000439673.2:c.2124G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2268G>A
  hgvsp: ENST00000568454.1:c.2268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2088G>A
  hgvsp: ENST00000382538.6:c.2088G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2235G>A
  hgvsp: ENST00000350773.4:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2235G>A
  hgvsp: ENST00000401874.2:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1534G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2235G>A
  hgvsp: ENST00000353929.4:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.304G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys745Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-2122866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122866
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122866
    reference: chr 16
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2270C>T
  hgvsp: ENSP00000454487.1:p.Thr757Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2237C>T
  hgvsp: ENSP00000219476.3:p.Thr746Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.271C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2237C>T
  hgvsp: ENSP00000344383.4:p.Thr746Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2237C>T
  hgvsp: ENSP00000384468.2:p.Thr746Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.306C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2090C>T
  hgvsp: ENSP00000371978.6:p.Thr697Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2126C>T
  hgvsp: ENSP00000399232.2:p.Thr709Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2237C>T
  hgvsp: ENSP00000248099.4:p.Thr746Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1536C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr746Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

16-2122868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122868
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122868
    reference: chr 16
allele count: 184
allele frequency: 1.527503362167727e-3
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2239C>T
  hgvsp: ENST00000350773.4:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2239C>T
  hgvsp: ENST00000401874.2:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2272C>T
  hgvsp: ENST00000568454.1:c.2272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.273C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2128C>T
  hgvsp: ENST00000439673.2:c.2128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2239C>T
  hgvsp: ENST00000219476.3:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.308C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2239C>T
  hgvsp: ENST00000353929.4:c.2239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1538C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2092C>T
  hgvsp: ENST00000382538.6:c.2092C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17942
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
hgvs: p.Leu747Leu
num of homozygotes: 5
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

16-2122874-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122874
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122874
    reference: chr 16
allele count: 7
allele frequency: 5.810864656660911e-5
allele num: 120464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2245C>T
  hgvsp: ENSP00000219476.3:p.Arg749Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1544C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2098C>T
  hgvsp: ENSP00000371978.6:p.Arg700Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2245C>T
  hgvsp: ENSP00000344383.4:p.Arg749Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.314C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2245C>T
  hgvsp: ENSP00000248099.4:p.Arg749Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2245C>T
  hgvsp: ENSP00000384468.2:p.Arg749Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2134C>T
  hgvsp: ENSP00000399232.2:p.Arg712Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2278C>T
  hgvsp: ENSP00000454487.1:p.Arg760Trp
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.279C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg749Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-2122875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122875
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122875
    reference: chr 16
allele count: 2
allele frequency: 1.66008167601846e-5
allele num: 120476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2246G>A
  hgvsp: ENSP00000384468.2:p.Arg749Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.280G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2246G>A
  hgvsp: ENSP00000344383.4:p.Arg749Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2135G>A
  hgvsp: ENSP00000399232.2:p.Arg712Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2099G>A
  hgvsp: ENSP00000371978.6:p.Arg700Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1545G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2279G>A
  hgvsp: ENSP00000454487.1:p.Arg760Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.315G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2246G>A
  hgvsp: ENSP00000219476.3:p.Arg749Gln
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2246G>A
  hgvsp: ENSP00000248099.4:p.Arg749Gln
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg749Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

16-2122876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122876
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122876
    reference: chr 16
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1546G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2247G>A
  hgvsp: ENST00000350773.4:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.316G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2136G>A
  hgvsp: ENST00000439673.2:c.2136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2247G>A
  hgvsp: ENST00000353929.4:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2280G>A
  hgvsp: ENST00000568454.1:c.2280G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.281G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2247G>A
  hgvsp: ENST00000219476.3:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2247G>A
  hgvsp: ENST00000401874.2:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2100G>A
  hgvsp: ENST00000382538.6:c.2100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg749Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-2122877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122877
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122877
    reference: chr 16
allele count: 1
allele frequency: 8.299719469481931e-6
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2248C>T
  hgvsp: ENSP00000219476.3:p.Leu750Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1547C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2281C>T
  hgvsp: ENSP00000454487.1:p.Leu761Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2248C>T
  hgvsp: ENSP00000384468.2:p.Leu750Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.317C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2248C>T
  hgvsp: ENSP00000248099.4:p.Leu750Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.282C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2137C>T
  hgvsp: ENSP00000399232.2:p.Leu713Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2101C>T
  hgvsp: ENSP00000371978.6:p.Leu701Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2248C>T
  hgvsp: ENSP00000344383.4:p.Leu750Phe
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu750Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/16-2122885-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122885
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122885
    reference: chr 16
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2256C>A
  hgvsp: ENST00000401874.2:c.2256C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.325C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2256C>A
  hgvsp: ENST00000350773.4:c.2256C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2289C>A
  hgvsp: ENST00000568454.1:c.2289C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2109C>A
  hgvsp: ENST00000382538.6:c.2109C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2145C>A
  hgvsp: ENST00000439673.2:c.2145C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1555C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2256C>A
  hgvsp: ENST00000219476.3:c.2256C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.290C>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2256C>A
  hgvsp: ENST00000353929.4:c.2256C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly752Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

16-2122889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122889
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122889
    reference: chr 16
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2293C>T
  hgvsp: ENSP00000454487.1:p.Pro765Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.329C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2149C>T
  hgvsp: ENSP00000399232.2:p.Pro717Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2260C>T
  hgvsp: ENSP00000344383.4:p.Pro754Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1559C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2113C>T
  hgvsp: ENSP00000371978.6:p.Pro705Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.294C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2260C>T
  hgvsp: ENSP00000384468.2:p.Pro754Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2260C>T
  hgvsp: ENSP00000219476.3:p.Pro754Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2260C>T
  hgvsp: ENSP00000248099.4:p.Pro754Ser
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro754Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

16-2122916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122916
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122916
    reference: chr 16
allele count: 1
allele frequency: 8.29228651508367e-6
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2320C>T
  hgvsp: ENSP00000454487.1:p.His774Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2140C>T
  hgvsp: ENSP00000371978.6:p.His714Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.356C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2287C>T
  hgvsp: ENSP00000384468.2:p.His763Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2176C>T
  hgvsp: ENSP00000399232.2:p.His726Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2287C>T
  hgvsp: ENSP00000219476.3:p.His763Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.321C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1586C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2287C>T
  hgvsp: ENSP00000344383.4:p.His763Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2287C>T
  hgvsp: ENSP00000248099.4:p.His763Tyr
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His763Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-2122919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122919
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122919
    reference: chr 16
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2290C>T
  hgvsp: ENST00000353929.4:c.2290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2179C>T
  hgvsp: ENST00000439673.2:c.2179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2323C>T
  hgvsp: ENST00000568454.1:c.2323C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1589C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.359C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2290C>T
  hgvsp: ENST00000219476.3:c.2290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.324C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2143C>T
  hgvsp: ENST00000382538.6:c.2143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2290C>T
  hgvsp: ENST00000350773.4:c.2290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2290C>T
  hgvsp: ENST00000401874.2:c.2290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu764Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

16-2122924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122924
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122924
    reference: chr 16
allele count: 9
allele frequency: 7.464171974522293e-5
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2295C>T
  hgvsp: ENST00000401874.2:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.329C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.364C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2148C>T
  hgvsp: ENST00000382538.6:c.2148C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2295C>T
  hgvsp: ENST00000219476.3:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1594C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2184C>T
  hgvsp: ENST00000439673.2:c.2184C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2328C>T
  hgvsp: ENST00000568454.1:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2295C>T
  hgvsp: ENST00000350773.4:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2295C>T
  hgvsp: ENST00000353929.4:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala765Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

16-2122925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122925
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122925
    reference: chr 16
allele count: 20
allele frequency: 1.65873239670244e-4
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.330G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2296G>A
  hgvsp: ENSP00000384468.2:p.Val766Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2296G>A
  hgvsp: ENSP00000248099.4:p.Val766Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2185G>A
  hgvsp: ENSP00000399232.2:p.Val729Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.365G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2296G>A
  hgvsp: ENSP00000219476.3:p.Val766Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1595G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2296G>A
  hgvsp: ENSP00000344383.4:p.Val766Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2329G>A
  hgvsp: ENSP00000454487.1:p.Val777Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2149G>A
  hgvsp: ENSP00000371978.6:p.Val717Met
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13090
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val766Met
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

16-2122926-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122926
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122926
    reference: chr 16
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2330T>C
  hgvsp: ENSP00000454487.1:p.Val777Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2186T>C
  hgvsp: ENSP00000399232.2:p.Val729Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2297T>C
  hgvsp: ENSP00000344383.4:p.Val766Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2297T>C
  hgvsp: ENSP00000384468.2:p.Val766Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2150T>C
  hgvsp: ENSP00000371978.6:p.Val717Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.331T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2297T>C
  hgvsp: ENSP00000219476.3:p.Val766Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.366T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1596T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2297T>C
  hgvsp: ENSP00000248099.4:p.Val766Ala
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val766Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-2122928-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122928
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122928
    reference: chr 16
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2188G>T
  hgvsp: ENSP00000399232.2:p.Val730Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2332G>T
  hgvsp: ENSP00000454487.1:p.Val778Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2299G>T
  hgvsp: ENSP00000384468.2:p.Val767Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2299G>T
  hgvsp: ENSP00000344383.4:p.Val767Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1598G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2152G>T
  hgvsp: ENSP00000371978.6:p.Val718Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2299G>T
  hgvsp: ENSP00000219476.3:p.Val767Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2299G>T
  hgvsp: ENSP00000248099.4:p.Val767Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.368G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.333G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val767Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

16-2122929-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122929
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122929
    reference: chr 16
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2153T>G
  hgvsp: ENSP00000371978.6:p.Val718Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2300T>G
  hgvsp: ENSP00000219476.3:p.Val767Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2300T>G
  hgvsp: ENSP00000384468.2:p.Val767Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.334T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2333T>G
  hgvsp: ENSP00000454487.1:p.Val778Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2300T>G
  hgvsp: ENSP00000344383.4:p.Val767Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2189T>G
  hgvsp: ENSP00000399232.2:p.Val730Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1599T>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2300T>G
  hgvsp: ENSP00000248099.4:p.Val767Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.369T>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20873
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val767Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-2122930-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122930
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122930
    reference: chr 16
allele count: 5
allele frequency: 4.146418323851856e-5
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.370T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2301T>A
  hgvsp: ENST00000350773.4:c.2301T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2301T>A
  hgvsp: ENST00000401874.2:c.2301T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2301T>A
  hgvsp: ENST00000219476.3:c.2301T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2190T>A
  hgvsp: ENST00000439673.2:c.2190T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2154T>A
  hgvsp: ENST00000382538.6:c.2154T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2334T>A
  hgvsp: ENST00000568454.1:c.2334T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2301T>A
  hgvsp: ENST00000353929.4:c.2301T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.335T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1600T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val767Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

16-2122937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122937
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122937
    reference: chr 16
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2161C>T
  hgvsp: ENST00000382538.6:c.2161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2341C>T
  hgvsp: ENST00000568454.1:c.2341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1607C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2308C>T
  hgvsp: ENST00000350773.4:c.2308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2308C>T
  hgvsp: ENST00000353929.4:c.2308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.342C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.377C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2308C>T
  hgvsp: ENST00000219476.3:c.2308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2308C>T
  hgvsp: ENST00000401874.2:c.2308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2197C>T
  hgvsp: ENST00000439673.2:c.2197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13070
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu770Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-2122939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122939
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122939
    reference: chr 16
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2310G>A
  hgvsp: ENST00000219476.3:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2163G>A
  hgvsp: ENST00000382538.6:c.2163G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.379G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.344G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2199G>A
  hgvsp: ENST00000439673.2:c.2199G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2310G>A
  hgvsp: ENST00000350773.4:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1609G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2310G>A
  hgvsp: ENST00000401874.2:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2310G>A
  hgvsp: ENST00000353929.4:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2343G>A
  hgvsp: ENST00000568454.1:c.2343G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8571
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu770Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

16-2122944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122944
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122944
    reference: chr 16
allele count: 3
allele frequency: 2.489172101359088e-5
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2315C>T
  hgvsp: ENSP00000248099.4:p.Ala772Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.349C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2168C>T
  hgvsp: ENSP00000371978.6:p.Ala723Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2348C>T
  hgvsp: ENSP00000454487.1:p.Ala783Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2315C>T
  hgvsp: ENSP00000384468.2:p.Ala772Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2204C>T
  hgvsp: ENSP00000399232.2:p.Ala735Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.384C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2315C>T
  hgvsp: ENSP00000344383.4:p.Ala772Val
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1614C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2315C>T
  hgvsp: ENSP00000219476.3:p.Ala772Val
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala772Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

16-2122951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122951
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122951
    reference: chr 16
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2355C>T
  hgvsp: ENST00000568454.1:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2175C>T
  hgvsp: ENST00000382538.6:c.2175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1621C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2322C>T
  hgvsp: ENST00000219476.3:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.356C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2211C>T
  hgvsp: ENST00000439673.2:c.2211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2322C>T
  hgvsp: ENST00000350773.4:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2322C>T
  hgvsp: ENST00000353929.4:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2322C>T
  hgvsp: ENST00000401874.2:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.391C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile774Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

16-2122956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122956
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122956
    reference: chr 16
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1626A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2216A>G
  hgvsp: ENSP00000399232.2:p.Tyr739Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2327A>G
  hgvsp: ENSP00000384468.2:p.Tyr776Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2180A>G
  hgvsp: ENSP00000371978.6:p.Tyr727Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2360A>G
  hgvsp: ENSP00000454487.1:p.Tyr787Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2327A>G
  hgvsp: ENSP00000344383.4:p.Tyr776Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2327A>G
  hgvsp: ENSP00000219476.3:p.Tyr776Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2327A>G
  hgvsp: ENSP00000248099.4:p.Tyr776Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.361A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.396A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr776Cys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

16-2122957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122957
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122957
    reference: chr 16
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1627C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2328C>T
  hgvsp: ENST00000219476.3:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2361C>T
  hgvsp: ENST00000568454.1:c.2361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.397C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.362C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2328C>T
  hgvsp: ENST00000350773.4:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2328C>T
  hgvsp: ENST00000353929.4:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2181C>T
  hgvsp: ENST00000382538.6:c.2181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2217C>T
  hgvsp: ENST00000439673.2:c.2217C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2328C>T
  hgvsp: ENST00000401874.2:c.2328C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr776Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-2122959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122959
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122959
    reference: chr 16
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2330A>G
  hgvsp: ENSP00000248099.4:p.His777Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1629A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2363A>G
  hgvsp: ENSP00000454487.1:p.His788Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2330A>G
  hgvsp: ENSP00000219476.3:p.His777Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2330A>G
  hgvsp: ENSP00000384468.2:p.His777Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2330A>G
  hgvsp: ENSP00000344383.4:p.His777Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2219A>G
  hgvsp: ENSP00000399232.2:p.His740Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2183A>G
  hgvsp: ENSP00000371978.6:p.His728Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.399A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.364A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His777Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-2122960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122960
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122960
    reference: chr 16
allele count: 6
allele frequency: 4.983305925150745e-5
allele num: 120402
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2331T>C
  hgvsp: ENST00000353929.4:c.2331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2331T>C
  hgvsp: ENST00000401874.2:c.2331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2331T>C
  hgvsp: ENST00000219476.3:c.2331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2331T>C
  hgvsp: ENST00000350773.4:c.2331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2220T>C
  hgvsp: ENST00000439673.2:c.2220T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.400T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.365T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2184T>C
  hgvsp: ENST00000382538.6:c.2184T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1630T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2364T>C
  hgvsp: ENST00000568454.1:c.2364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.His777His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-2122963-C-CGTGCCGTTCACCTCACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122963
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122980
    reference: chr 16
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: CGTGCCGTTCACCTCACA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsp: ENSP00000344383.4:p.Tyr779ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsp: ENSP00000248099.4:p.Tyr779ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsp: ENSP00000454487.1:p.Tyr790ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsp: ENSP00000371978.6:p.Tyr730ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsp: ENSP00000219476.3:p.Tyr779ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsp: ENSP00000399232.2:p.Tyr742ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsp: ENSP00000384468.2:p.Tyr779ValfsTer56
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13057
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Tyr779ValfsTer56
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

16-2122965-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122965
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122965
    reference: chr 16
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2225A>T
  hgvsp: ENSP00000399232.2:p.Tyr742Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2189A>T
  hgvsp: ENSP00000371978.6:p.Tyr730Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2369A>T
  hgvsp: ENSP00000454487.1:p.Tyr790Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2336A>T
  hgvsp: ENSP00000248099.4:p.Tyr779Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2336A>T
  hgvsp: ENSP00000344383.4:p.Tyr779Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2336A>T
  hgvsp: ENSP00000384468.2:p.Tyr779Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.370A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1635A>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2336A>T
  hgvsp: ENSP00000219476.3:p.Tyr779Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.405A>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20578
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr779Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2122977-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122977
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122977
    reference: chr 16
allele count: 115
allele frequency: 9.564204923486361e-4
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2348C>G
  hgvsp: ENSP00000384468.2:p.Thr783Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2348C>G
  hgvsp: ENSP00000344383.4:p.Thr783Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2348C>G
  hgvsp: ENSP00000219476.3:p.Thr783Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2237C>G
  hgvsp: ENSP00000399232.2:p.Thr746Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2348C>G
  hgvsp: ENSP00000248099.4:p.Thr783Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.382C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2381C>G
  hgvsp: ENSP00000454487.1:p.Thr794Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1647C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.417C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2201C>G
  hgvsp: ENSP00000371978.6:p.Thr734Ser
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17945
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Thr783Ser
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-2122977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122977
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122977
    reference: chr 16
allele count: 3
allele frequency: 2.49500998003992e-5
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.417C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2348C>T
  hgvsp: ENSP00000248099.4:p.Thr783Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2348C>T
  hgvsp: ENSP00000344383.4:p.Thr783Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2237C>T
  hgvsp: ENSP00000399232.2:p.Thr746Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2348C>T
  hgvsp: ENSP00000219476.3:p.Thr783Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2348C>T
  hgvsp: ENSP00000384468.2:p.Thr783Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2381C>T
  hgvsp: ENSP00000454487.1:p.Thr794Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2201C>T
  hgvsp: ENSP00000371978.6:p.Thr734Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1647C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.382C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr783Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

16-2122979-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122979
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122979
    reference: chr 16
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1649A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2383A>G
  hgvsp: ENSP00000454487.1:p.Lys795Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.384A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.419A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2350A>G
  hgvsp: ENSP00000219476.3:p.Lys784Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2350A>G
  hgvsp: ENSP00000384468.2:p.Lys784Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2239A>G
  hgvsp: ENSP00000399232.2:p.Lys747Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2350A>G
  hgvsp: ENSP00000344383.4:p.Lys784Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2203A>G
  hgvsp: ENSP00000371978.6:p.Lys735Glu
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2350A>G
  hgvsp: ENSP00000248099.4:p.Lys784Glu
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys784Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

16-2122989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122989
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122989
    reference: chr 16
allele count: 2
allele frequency: 1.664807631478183e-5
allele num: 120134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+5G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+5G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8450
  bin: 6.75e1
  variant carriers: 0
hgvs: c.2355+5G>A
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

16-2122992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122992
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122992
    reference: chr 16
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+8G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+8G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2355+8G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

16-2122996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2122996
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2122996
    reference: chr 16
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+12G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+12G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

16-2123008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123008
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123008
    reference: chr 16
allele count: 53
allele frequency: 4.421751681099932e-4
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+24C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+24C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

16-2123009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123009
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123009
    reference: chr 16
allele count: 14
allele frequency: 1.168107332376598e-4
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+25G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+25G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13261
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16972
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2123015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123015
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123015
    reference: chr 16
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+31G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+31G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-2123018-GGGGCCTGGGATTCGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123018
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123003
    reference: chr 16
allele count: 3
allele frequency: 2.506056302731601e-5
allele num: 119710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16277
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: GGGGCCTGGGATTCGA
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2123020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123020
    reference: chr 16
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+36G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+36G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-2123020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123020
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123020
    reference: chr 16
allele count: 1
allele frequency: 8.352962795903706e-6
allele num: 119718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+36G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+36G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

16-2123023-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123023
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123023
    reference: chr 16
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+39C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+39C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

16-2123026-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123026
    reference: chr 16
allele count: 1
allele frequency: 8.365260745177427e-6
allele num: 119542
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+42G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+42G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13760
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

16-2123034-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2123034
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2123034
    reference: chr 16
allele count: 9
allele frequency: 7.54906894816306e-5
allele num: 119220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2208+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2355+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1654+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2244+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2355+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2355+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2388+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.424+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2355+50G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.389+50G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10437
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

16-2124156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124156
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124156
    reference: chr 16
allele count: 1
allele frequency: 8.457660949287865e-6
allele num: 118236
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-45C>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-45C>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-2124166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124166
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124166
    reference: chr 16
allele count: 1
allele frequency: 8.447230153232754e-6
allele num: 118382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-35A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-35A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-2124168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124168
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124168
    reference: chr 16
allele count: 2
allele frequency: 1.689645850229792e-5
allele num: 118368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-33C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-33C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-2124169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124169
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124169
    reference: chr 16
allele count: 30
allele frequency: 2.534169045969827e-4
allele num: 118382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-32G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-32G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

16-2124169-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124169
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124169
    reference: chr 16
allele count: 1
allele frequency: 8.447230153232754e-6
allele num: 118382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-32G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-32G>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-2124186-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124186
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124186
    reference: chr 16
allele count: 18
allele frequency: 1.514921981517952e-4
allele num: 118818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-15T>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-15T>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22205
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

16-2124190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124190
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124190
    reference: chr 16
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356-11G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390-11G>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6201
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

16-2124201-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124201
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124201
    reference: chr 16
allele count: 7
allele frequency: 5.875243402940979e-5
allele num: 119144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1655C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2356C>T
  hgvsp: ENSP00000248099.4:p.Arg786Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2356C>T
  hgvsp: ENSP00000344383.4:p.Arg786Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.425C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2356C>T
  hgvsp: ENSP00000219476.3:p.Arg786Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2209C>T
  hgvsp: ENSP00000371978.6:p.Arg737Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2389C>T
  hgvsp: ENSP00000454487.1:p.Arg797Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2356C>T
  hgvsp: ENSP00000384468.2:p.Arg786Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2245C>T
  hgvsp: ENSP00000399232.2:p.Arg749Cys
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.390C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg786Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

16-2124203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124203
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124203
    reference: chr 16
allele count: 2
allele frequency: 1.677824197580577e-5
allele num: 119202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2211C>T
  hgvsp: ENST00000382538.6:c.2211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2358C>T
  hgvsp: ENST00000219476.3:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2391C>T
  hgvsp: ENST00000568454.1:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2247C>T
  hgvsp: ENST00000439673.2:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2358C>T
  hgvsp: ENST00000401874.2:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1657C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2358C>T
  hgvsp: ENST00000353929.4:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.392C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2358C>T
  hgvsp: ENST00000350773.4:c.2358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.427C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2358C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

16-2124209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124209
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124209
    reference: chr 16
allele count: 1
allele frequency: 8.376893177858196e-6
allele num: 119376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2253G>A
  hgvsp: ENSP00000399232.2:p.Met751Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2397G>A
  hgvsp: ENSP00000454487.1:p.Met799Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.398G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.433G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2364G>A
  hgvsp: ENSP00000344383.4:p.Met788Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2364G>A
  hgvsp: ENSP00000219476.3:p.Met788Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2217G>A
  hgvsp: ENSP00000371978.6:p.Met739Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2364G>A
  hgvsp: ENSP00000248099.4:p.Met788Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2364G>A
  hgvsp: ENSP00000384468.2:p.Met788Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1663G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6198
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met788Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

16-2124210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124210
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124210
    reference: chr 16
allele count: 5
allele frequency: 4.187674835424379e-5
allele num: 119398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2218G>A
  hgvsp: ENSP00000371978.6:p.Val740Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2254G>A
  hgvsp: ENSP00000399232.2:p.Val752Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2365G>A
  hgvsp: ENSP00000384468.2:p.Val789Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2365G>A
  hgvsp: ENSP00000344383.4:p.Val789Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2398G>A
  hgvsp: ENSP00000454487.1:p.Val800Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2365G>A
  hgvsp: ENSP00000219476.3:p.Val789Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.434G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.399G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2365G>A
  hgvsp: ENSP00000248099.4:p.Val789Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1664G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val789Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

16-2124211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124211
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124211
    reference: chr 16
allele count: 3
allele frequency: 2.512057877813505e-5
allele num: 119424
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2366T>C
  hgvsp: ENSP00000219476.3:p.Val789Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2255T>C
  hgvsp: ENSP00000399232.2:p.Val752Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.435T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2366T>C
  hgvsp: ENSP00000384468.2:p.Val789Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2219T>C
  hgvsp: ENSP00000371978.6:p.Val740Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1665T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2366T>C
  hgvsp: ENSP00000344383.4:p.Val789Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2399T>C
  hgvsp: ENSP00000454487.1:p.Val800Ala
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.400T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2366T>C
  hgvsp: ENSP00000248099.4:p.Val789Ala
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val789Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

16-2124217-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124217
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124217
    reference: chr 16
allele count: 1
allele frequency: 8.366800535475235e-6
allele num: 119520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2372G>T
  hgvsp: ENSP00000384468.2:p.Cys791Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.406G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2372G>T
  hgvsp: ENSP00000344383.4:p.Cys791Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2405G>T
  hgvsp: ENSP00000454487.1:p.Cys802Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2261G>T
  hgvsp: ENSP00000399232.2:p.Cys754Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2225G>T
  hgvsp: ENSP00000371978.6:p.Cys742Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1671G>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2372G>T
  hgvsp: ENSP00000248099.4:p.Cys791Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2372G>T
  hgvsp: ENSP00000219476.3:p.Cys791Phe
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.441G>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys791Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-2124227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124227
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124227
    reference: chr 16
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2382G>A
  hgvsp: ENST00000350773.4:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2271G>A
  hgvsp: ENST00000439673.2:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2235G>A
  hgvsp: ENST00000382538.6:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2382G>A
  hgvsp: ENST00000353929.4:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1681G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2415G>A
  hgvsp: ENST00000568454.1:c.2415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2382G>A
  hgvsp: ENST00000401874.2:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2382G>A
  hgvsp: ENST00000219476.3:c.2382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.416G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.451G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln794Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

16-2124237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124237
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124237
    reference: chr 16
allele count: 5
allele frequency: 4.175086424288983e-5
allele num: 119758
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2392C>T
  hgvsp: ENSP00000344383.4:p.His798Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.426C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1691C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2392C>T
  hgvsp: ENSP00000248099.4:p.His798Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2425C>T
  hgvsp: ENSP00000454487.1:p.His809Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2281C>T
  hgvsp: ENSP00000399232.2:p.His761Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2392C>T
  hgvsp: ENSP00000219476.3:p.His798Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.461C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2392C>T
  hgvsp: ENSP00000384468.2:p.His798Tyr
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2245C>T
  hgvsp: ENSP00000371978.6:p.His749Tyr
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12223
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His798Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

16-2124239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124239
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124239
    reference: chr 16
allele count: 1
allele frequency: 8.348499774590506e-6
allele num: 119782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2394C>T
  hgvsp: ENST00000219476.3:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.463C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2394C>T
  hgvsp: ENST00000350773.4:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1693C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2394C>T
  hgvsp: ENST00000401874.2:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2247C>T
  hgvsp: ENST00000382538.6:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.428C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2427C>T
  hgvsp: ENST00000568454.1:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2283C>T
  hgvsp: ENST00000439673.2:c.2283C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2394C>T
  hgvsp: ENST00000353929.4:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His798His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

16-2124243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124243
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124243
    reference: chr 16
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2251T>C
  hgvsp: ENSP00000371978.6:p.Cys751Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1697T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2398T>C
  hgvsp: ENSP00000248099.4:p.Cys800Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.467T>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2398T>C
  hgvsp: ENSP00000344383.4:p.Cys800Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2398T>C
  hgvsp: ENSP00000219476.3:p.Cys800Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2287T>C
  hgvsp: ENSP00000399232.2:p.Cys763Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2398T>C
  hgvsp: ENSP00000384468.2:p.Cys800Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2431T>C
  hgvsp: ENSP00000454487.1:p.Cys811Arg
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.432T>C
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys800Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-2124244-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124244
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124244
    reference: chr 16
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2399G>C
  hgvsp: ENSP00000384468.2:p.Cys800Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2432G>C
  hgvsp: ENSP00000454487.1:p.Cys811Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.433G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2399G>C
  hgvsp: ENSP00000248099.4:p.Cys800Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2399G>C
  hgvsp: ENSP00000219476.3:p.Cys800Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.468G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2399G>C
  hgvsp: ENSP00000344383.4:p.Cys800Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1698G>C
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2288G>C
  hgvsp: ENSP00000399232.2:p.Cys763Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2252G>C
  hgvsp: ENSP00000371978.6:p.Cys751Ser
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys800Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

16-2124249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124249
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124249
    reference: chr 16
allele count: 9
allele frequency: 7.501250208368061e-5
allele num: 119980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2404A>G
  hgvsp: ENSP00000344383.4:p.Ser802Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2293A>G
  hgvsp: ENSP00000399232.2:p.Ser765Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.473A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1703A>G
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2404A>G
  hgvsp: ENSP00000384468.2:p.Ser802Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2404A>G
  hgvsp: ENSP00000248099.4:p.Ser802Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2437A>G
  hgvsp: ENSP00000454487.1:p.Ser813Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2404A>G
  hgvsp: ENSP00000219476.3:p.Ser802Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2257A>G
  hgvsp: ENSP00000371978.6:p.Ser753Gly
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.438A>G
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser802Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

16-2124251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124251
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124251
    reference: chr 16
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.440C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2295C>T
  hgvsp: ENST00000439673.2:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.475C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2406C>T
  hgvsp: ENST00000353929.4:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1705C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2406C>T
  hgvsp: ENST00000401874.2:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2259C>T
  hgvsp: ENST00000382538.6:c.2259C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2406C>T
  hgvsp: ENST00000350773.4:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2439C>T
  hgvsp: ENST00000568454.1:c.2439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2406C>T
  hgvsp: ENST00000219476.3:c.2406C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12964
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6192
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser802Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

16-2124257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124257
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124257
    reference: chr 16
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2412C>T
  hgvsp: ENST00000350773.4:c.2412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2412C>T
  hgvsp: ENST00000219476.3:c.2412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1711C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2265C>T
  hgvsp: ENST00000382538.6:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2412C>T
  hgvsp: ENST00000353929.4:c.2412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2445C>T
  hgvsp: ENST00000568454.1:c.2445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2412C>T
  hgvsp: ENST00000401874.2:c.2412C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.481C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2301C>T
  hgvsp: ENST00000439673.2:c.2301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.446C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys804Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

16-2124258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124258
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124258
    reference: chr 16
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.482G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2446G>A
  hgvsp: ENSP00000454487.1:p.Val816Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2413G>A
  hgvsp: ENSP00000344383.4:p.Val805Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2413G>A
  hgvsp: ENSP00000219476.3:p.Val805Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.447G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2302G>A
  hgvsp: ENSP00000399232.2:p.Val768Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2266G>A
  hgvsp: ENSP00000371978.6:p.Val756Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2413G>A
  hgvsp: ENSP00000248099.4:p.Val805Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2413G>A
  hgvsp: ENSP00000384468.2:p.Val805Ile
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1712G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val805Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

16-2124260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124260
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124260
    reference: chr 16
allele count: 3
allele frequency: 2.498334443704197e-5
allele num: 120080
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2268C>T
  hgvsp: ENST00000382538.6:c.2268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2304C>T
  hgvsp: ENST00000439673.2:c.2304C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2415C>T
  hgvsp: ENST00000353929.4:c.2415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2415C>T
  hgvsp: ENST00000350773.4:c.2415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2448C>T
  hgvsp: ENST00000568454.1:c.2448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2415C>T
  hgvsp: ENST00000219476.3:c.2415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2415C>T
  hgvsp: ENST00000401874.2:c.2415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.484C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1714C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.449C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val805Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-2124272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124272
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124272
    reference: chr 16
allele count: 18
allele frequency: 1.497977730064413e-4
allele num: 120162
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2427C>T
  hgvsp: ENST00000350773.4:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2280C>T
  hgvsp: ENST00000382538.6:c.2280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1726C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2427C>T
  hgvsp: ENST00000353929.4:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2427C>T
  hgvsp: ENST00000219476.3:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2427C>T
  hgvsp: ENST00000401874.2:c.2427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2316C>T
  hgvsp: ENST00000439673.2:c.2316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.461C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2460C>T
  hgvsp: ENST00000568454.1:c.2460C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.496C>T
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser809Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

16-2124281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124281
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124281
    reference: chr 16
allele count: 3
allele frequency: 2.496089459846241e-5
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2436C>T
  hgvsp: ENST00000350773.4:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2325C>T
  hgvsp: ENST00000439673.2:c.2325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2436C>T
  hgvsp: ENST00000219476.3:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.505C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1735C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.470C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2469C>T
  hgvsp: ENST00000568454.1:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2289C>T
  hgvsp: ENST00000382538.6:c.2289C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2436C>T
  hgvsp: ENST00000353929.4:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2436C>T
  hgvsp: ENST00000401874.2:c.2436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser812Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-2124282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124282
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124282
    reference: chr 16
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2437G>A
  hgvsp: ENSP00000344383.4:p.Val813Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.506G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2326G>A
  hgvsp: ENSP00000399232.2:p.Val776Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.471G>A
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2470G>A
  hgvsp: ENSP00000454487.1:p.Val824Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2437G>A
  hgvsp: ENSP00000219476.3:p.Val813Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2437G>A
  hgvsp: ENSP00000384468.2:p.Val813Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2290G>A
  hgvsp: ENSP00000371978.6:p.Val764Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2437G>A
  hgvsp: ENSP00000248099.4:p.Val813Met
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1736G>A
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val813Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

16-2124291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2124291
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 2124291
    reference: chr 16
allele count: 2
allele frequency: 1.663755095249979e-5
allele num: 120210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000219476
  ensembl transcript: ENST00000219476
  gene symbol: TSC2
  hgvsc: ENST00000219476.3:c.2446C>T
  hgvsp: ENSP00000219476.3:p.Pro816Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000563346
  gene symbol: TSC2
  hgvsc: ENST00000563346.1:n.515C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000454487
  ensembl transcript: ENST00000568454
  gene symbol: TSC2
  hgvsc: ENST00000568454.1:c.2479C>T
  hgvsp: ENSP00000454487.1:p.Pro827Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000344383
  ensembl transcript: ENST00000350773
  gene symbol: TSC2
  hgvsc: ENST00000350773.4:c.2446C>T
  hgvsp: ENSP00000344383.4:p.Pro816Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000371978
  ensembl transcript: ENST00000382538
  gene symbol: TSC2
  hgvsc: ENST00000382538.6:c.2299C>T
  hgvsp: ENSP00000371978.6:p.Pro767Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000103197
  ensembl transcript: ENST00000463808
  gene symbol: TSC2
  hgvsc: ENST00000463808.1:n.480C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000406980
  ensembl transcript: ENST00000439117
  gene symbol: TSC2
  hgvsc: ENST00000439117.2:c.*1745C>T
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000384468
  ensembl transcript: ENST00000401874
  gene symbol: TSC2
  hgvsc: ENST00000401874.2:c.2446C>T
  hgvsp: ENSP00000384468.2:p.Pro816Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000399232
  ensembl transcript: ENST00000439673
  gene symbol: TSC2
  hgvsc: ENST00000439673.2:c.2335C>T
  hgvsp: ENSP00000399232.2:p.Pro779Ser
  variant of: http://identifiers.org/hgnc/12363
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000103197
  ensembl protein: ENSP00000248099
  ensembl transcript: ENST00000353929
  gene symbol: TSC2
  hgvsc: ENST00000353929.4:c.2446C>T
  hgvsp: ENSP00000248099.4:p.Pro816Ser
  variant of: http://identifiers.org/hgnc/12363
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro816Ser
num of homozygotes: 0
reference allele: C

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

GenotypeQuality
all individuals: 20631
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2719
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1866
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.234258e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.391e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.049e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.874e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13204
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3756
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65922
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.094e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

DP
type: SiteQuality
SIO_000300: 2.234406e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

FS
type: SiteQuality
SIO_000300: 1.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

GenotypeDepth
all individuals: 445
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13258
bin: 9.75e1
variant carriers: 179

GenotypeQuality
all individuals: 3752
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20549
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2711
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 176
allele frequency: 1.70377541142304e-2
allele num: 10330
num of homozygotes: 5

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516944267467613e-5
allele num: 65922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.059556786703601e-4
allele num: 11552
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

DP
type: SiteQuality
SIO_000300: 2.239977e6

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13111
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.55000455000455e-5
allele num: 65934
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.17e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.023e0

DP
type: SiteQuality
SIO_000300: 2.232603e6

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13107
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.032968366139941e-5
allele num: 65942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 2.232393e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.747e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.375e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.349e0

QD
type: SiteQuality
SIO_000300: 9.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

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

GenotypeQuality
all individuals: 13105
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 2.232399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 9.42e0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13105
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3964
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20608
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -2.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 2.23238e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.648e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 9.51e0

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5147
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13103
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2717
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3757
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 2.232153e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 4.889e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13100
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515427047341941e-5
allele num: 65988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.168e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.556e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.232454e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.276e1

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8597
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13099
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.595e0

FS
type: SiteQuality
SIO_000300: 3.698e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.215e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: -8.381e-1

DP
type: SiteQuality
SIO_000300: 2.232887e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 13098
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.232808e6

FS
type: SiteQuality
SIO_000300: 4.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.905e0

GenotypeDepth
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8593
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13095
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 7.735447689035003e-4
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.232925e6

QD
type: SiteQuality
SIO_000300: 1.368e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20827
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8593
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.449835685289e-3
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.029201502483945e-5
allele num: 66024
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 2.232776e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.116e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 399
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

FS
type: SiteQuality
SIO_000300: 1.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.036e1

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

DP
type: SiteQuality
SIO_000300: 2.231713e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.281e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 5137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51437138443832e-5
allele num: 66034
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.231674e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

FS
type: SiteQuality
SIO_000300: 5.67e0

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.798e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8590
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3764
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13071
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.231604e6

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20870
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13072
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 407
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3762
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.192e1

DP
type: SiteQuality
SIO_000300: 2.231936e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 3.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20883
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.227e0

FS
type: SiteQuality
SIO_000300: 4.425e0

DP
type: SiteQuality
SIO_000300: 2.231322e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

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

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.327e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.857e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 2.231263e6

GenotypeDepth
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13068
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 20863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030670384289005e-5
allele num: 65992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 2.230802e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.937e0

GenotypeQuality
all individuals: 13065
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8570
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 2.229799e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.063e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 13063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20671
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.242e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.235e1

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.228782e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeDepth
all individuals: 2520
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.275e0

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.228791e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.401e1

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0681e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.552e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.228338e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 1.018e1

VQSLOD
type: SiteQuality
SIO_000300: -1.76e0

GenotypeDepth
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13061
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20698
bin: 6.25e1
variant carriers: 0

East Asian
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: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.070355419309801e-5
allele num: 65894
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.938360147315371e-4
allele num: 10318
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 2.228247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.301e1

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20645
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

East Asian
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: 11542
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.369e0

MQ
type: SiteQuality
SIO_000300: 5.531e1

DP
type: SiteQuality
SIO_000300: 2.227464e6

VQSLOD
type: SiteQuality
SIO_000300: -9.792e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.332e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 2.326e0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2714
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13056
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65860
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.226731e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.309e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.567e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.209e0

QD
type: SiteQuality
SIO_000300: 3.17e0

GenotypeDepth
all individuals: 540
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13074
bin: 9.75e1
variant carriers: 114

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041177543945015e-5
allele num: 65764
num of homozygotes: 1

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

African
type: Population
allele count: 2
allele frequency: 1.941370607649e-4
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 111
allele frequency: 6.726457399103139e-3
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.262e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 2.227556e6

GenotypeDepth
all individuals: 1505
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13074
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5127
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.262e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

DP
type: SiteQuality
SIO_000300: 2.227556e6

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.323e1

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3950
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13015
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5128
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.221856e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.174e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.162e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 191
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13012
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3936
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5113
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044696139325295e-5
allele num: 65688
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.669e0

VQSLOD
type: SiteQuality
SIO_000300: -4.837e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

DP
type: SiteQuality
SIO_000300: 2.217213e6

GenotypeQuality
all individuals: 146
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 215
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 229
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13007
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20052
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 1.072e1

FS
type: SiteQuality
SIO_000300: 7.429e0

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.214571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3918
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 834
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19949
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.744689144416293e-5
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.432e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 2.211437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.011e1

GenotypeQuality
all individuals: 3591
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13007
bin: 9.75e1
variant carriers: 52

Latino
type: Population
allele count: 2
allele frequency: 1.735809755250825e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.611165332812805e-3
allele num: 10246
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.670709520921771e-4
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 2.195601e6

FS
type: SiteQuality
SIO_000300: 2.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 4988
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12966
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.10780271797221e-5
allele num: 65490
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.16198001394376e-3
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.983e0

QD
type: SiteQuality
SIO_000300: 1.183e1

FS
type: SiteQuality
SIO_000300: 8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 2.191534e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
all individuals: 3825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7867
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65428
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

DP
type: SiteQuality
SIO_000300: 2.179135e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.29e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

GenotypeQuality
all individuals: 7755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12945
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4853
bin: 7.75e1
variant carriers: 0

East 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: 10220
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.588138133545408e-5
allele num: 65386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.173621e6

VQSLOD
type: SiteQuality
SIO_000300: -1.789e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.155e1

FS
type: SiteQuality
SIO_000300: 6.355e0

MQRankSum
type: SiteQuality
SIO_000300: -3.626e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 3.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12937
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 7.482e0

QD
type: SiteQuality
SIO_000300: 1.459e1

DP
type: SiteQuality
SIO_000300: 2.166505e6

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7712
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12937
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529192280637367e-5
allele num: 65394
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.482e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

DP
type: SiteQuality
SIO_000300: 2.166505e6

GenotypeQuality
all individuals: 893
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12832
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.509e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.568e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

QD
type: SiteQuality
SIO_000300: 1.853e1

DP
type: SiteQuality
SIO_000300: 2.143936e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.967e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
all individuals: 2587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6798
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4556
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.692e0

DP
type: SiteQuality
SIO_000300: 2.125654e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.606e1

GenotypeQuality
all individuals: 1032
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12820
bin: 9.75e1
variant carriers: 9

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.339248190520663e-4
allele num: 8566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 2.099197e6

FS
type: SiteQuality
SIO_000300: 1.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1212
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8969
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547508511296812e-5
allele num: 64620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.917098e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 1.725e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
all individuals: 6223
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 413
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.954210631096954e-5
allele num: 10046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.775e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.931521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

GenotypeQuality
all individuals: 898
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32171
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6221
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545642832854184e-5
allele num: 64698
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.782e0

DP
type: SiteQuality
SIO_000300: 1.935154e6

VQSLOD
type: SiteQuality
SIO_000300: -8.642e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.038e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

GenotypeQuality
all individuals: 32912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 824
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.368338284116722e-4
allele num: 11446
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.24564928441161e-4
allele num: 64702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.830161054172767e-4
allele num: 16392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 3.945e0

DP
type: SiteQuality
SIO_000300: 1.939267e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 32912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8992
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545547278291243e-5
allele num: 64702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.939267e6

FS
type: SiteQuality
SIO_000300: 3.945e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2429
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34360
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2435
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.69941484447182e-5
allele num: 64940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.046572475143904e-3
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 1.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.957782e6

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1062
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.96205e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 3.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeDepth
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 923
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6204
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.675303942036105e-5
allele num: 65144
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.970931e6

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

FS
type: SiteQuality
SIO_000300: 1.899e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

GenotypeDepth
all individuals: 475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6200
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9208
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534165874014298e-5
allele num: 65182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.83671060397403e-5
allele num: 10166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.972692e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531909678605349e-5
allele num: 65278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.163e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.977402e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 2433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9249
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.816658911121452e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.109e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 1.977747e6

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 6199
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9256
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.489183531053733e-4
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.978227e6

FS
type: SiteQuality
SIO_000300: 3.521e0

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.796238244514106e-5
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.624e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 4.729e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.496e-1

DP
type: SiteQuality
SIO_000300: 1.980107e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36295
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9275
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527557130636686e-5
allele num: 65464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e0

DP
type: SiteQuality
SIO_000300: 1.983547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.105e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

GenotypeDepth
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6198
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36259
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.107056704021496e-5
allele num: 65498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.986307e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9269
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6193
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65508
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.604e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.986785e6

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
all individuals: 591
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9276
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36578
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65536
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.526e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.038e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.988238e6

GenotypeDepth
all individuals: 1142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.988593e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.516e1

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
all individuals: 2406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1248
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9314
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36992
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6201
bin: 9.75e1
variant carriers: 9

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.044083526682135e-3
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

FS
type: SiteQuality
SIO_000300: 1.824e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 1.993041e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

GenotypeQuality
all individuals: 1243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.016e0

FS
type: SiteQuality
SIO_000300: 3.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 1.993436e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.177e0

DP
type: SiteQuality
SIO_000300: 1.994708e6

GenotypeQuality
all individuals: 6191
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.994968e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 3.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeDepth
all individuals: 349
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6191
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37159
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.946661475569399e-4
allele num: 10274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 2.379e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

DP
type: SiteQuality
SIO_000300: 1.995397e6

GenotypeDepth
all individuals: 363
bin: 6.25e1
variant carriers: 3

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

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6196
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.673614703465904e-4
allele num: 65726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.136e0

DP
type: SiteQuality
SIO_000300: 1.997454e6

GenotypeQuality
all individuals: 9347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6178
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.563570537588609e-5
allele num: 65738
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.997493e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
all individuals: 37298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9342
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6176
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65736
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 1.997481e6

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

QD
type: SiteQuality
SIO_000300: 1.247e1