11-2189796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189796
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189796
    reference: chr 11
allele count: 1
allele frequency: 9.263204698297423e-6
allele num: 107954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.412C>T
  hgvsp: ENSP00000325951.3:p.Arg138Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.424C>T
  hgvsp: ENSP00000328814.5:p.Arg142Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*101C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*101C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.505C>T
  hgvsp: ENSP00000370571.1:p.Arg169Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.493C>T
  hgvsp: ENSP00000370567.1:p.Arg165Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.161C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg169Ter
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-2189797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189797
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189797
    reference: chr 11
allele count: 2
allele frequency: 1.849762305543737e-5
allele num: 108122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*100C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*100C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.492C>T
  hgvsp: ENST00000381175.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.504C>T
  hgvsp: ENST00000381178.1:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.423C>T
  hgvsp: ENST00000333684.5:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.411C>T
  hgvsp: ENST00000352909.3:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.160C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg168Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-2189798-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189798
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189798
    reference: chr 11
allele count: 1
allele frequency: 9.264406151565684e-6
allele num: 107940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.422G>C
  hgvsp: ENSP00000328814.5:p.Arg141Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*99G>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.491G>C
  hgvsp: ENSP00000370567.1:p.Arg164Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*99G>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.410G>C
  hgvsp: ENSP00000325951.3:p.Arg137Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.503G>C
  hgvsp: ENSP00000370571.1:p.Arg168Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.159G>C
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg168Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-2189798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189798
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189798
    reference: chr 11
allele count: 1
allele frequency: 9.264406151565684e-6
allele num: 107940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.159G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.491G>A
  hgvsp: ENSP00000370567.1:p.Arg164His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.503G>A
  hgvsp: ENSP00000370571.1:p.Arg168His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.410G>A
  hgvsp: ENSP00000325951.3:p.Arg137His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*99G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.422G>A
  hgvsp: ENSP00000328814.5:p.Arg141His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*99G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg168His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

11-2189799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189799
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189799
    reference: chr 11
allele count: 2
allele frequency: 1.857148163280467e-5
allele num: 107692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.490C>T
  hgvsp: ENSP00000370567.1:p.Arg164Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.158C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.502C>T
  hgvsp: ENSP00000370571.1:p.Arg168Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*98C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.421C>T
  hgvsp: ENSP00000328814.5:p.Arg141Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*98C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.409C>T
  hgvsp: ENSP00000325951.3:p.Arg137Cys
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg168Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-2189802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189802
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189802
    reference: chr 11
allele count: 9
allele frequency: 8.347090575207286e-5
allele num: 107822
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.499G>A
  hgvsp: ENSP00000370571.1:p.Val167Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.418G>A
  hgvsp: ENSP00000328814.5:p.Val140Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.155G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.406G>A
  hgvsp: ENSP00000325951.3:p.Val136Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*95G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.487G>A
  hgvsp: ENSP00000370567.1:p.Val163Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*95G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14652
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21728
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val167Met
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-2189805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189805
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189805
    reference: chr 11
allele count: 7
allele frequency: 6.51514305392677e-5
allele num: 107442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*92G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.484G>A
  hgvsp: ENSP00000370567.1:p.Glu162Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.415G>A
  hgvsp: ENSP00000328814.5:p.Glu139Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.152G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*92G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.403G>A
  hgvsp: ENSP00000325951.3:p.Glu135Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.496G>A
  hgvsp: ENSP00000370571.1:p.Glu166Lys
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu166Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-2189806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189806
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189806
    reference: chr 11
allele count: 1
allele frequency: 9.301460329271696e-6
allele num: 107510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*91C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.402C>T
  hgvsp: ENST00000352909.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*91C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.483C>T
  hgvsp: ENST00000381175.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.495C>T
  hgvsp: ENST00000381178.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.414C>T
  hgvsp: ENST00000333684.5:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.151C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu165Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-2189809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189809
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189809
    reference: chr 11
allele count: 1
allele frequency: 9.296445039416927e-6
allele num: 107568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*88C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.399C>T
  hgvsp: ENST00000352909.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.411C>T
  hgvsp: ENST00000333684.5:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*88C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.148C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.492C>T
  hgvsp: ENST00000381178.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.480C>T
  hgvsp: ENST00000381175.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg164Arg
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: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

http://identifiers.org/exac.variant/11-2189810-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189810
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189810
    reference: chr 11
allele count: 1
allele frequency: 9.306134603930912e-6
allele num: 107456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*87G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.410G>T
  hgvsp: ENSP00000328814.5:p.Arg137Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.398G>T
  hgvsp: ENSP00000325951.3:p.Arg133Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.147G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.491G>T
  hgvsp: ENSP00000370571.1:p.Arg164Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.479G>T
  hgvsp: ENSP00000370567.1:p.Arg160Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*87G>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg164Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-2189810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189810
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189810
    reference: chr 11
allele count: 6
allele frequency: 5.583680762358547e-5
allele num: 107456
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.398G>A
  hgvsp: ENSP00000325951.3:p.Arg133His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*87G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.410G>A
  hgvsp: ENSP00000328814.5:p.Arg137His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.147G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.479G>A
  hgvsp: ENSP00000370567.1:p.Arg160His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.491G>A
  hgvsp: ENSP00000370571.1:p.Arg164His
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*87G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22224
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14404
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg164His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

11-2189811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189811
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189811
    reference: chr 11
allele count: 4
allele frequency: 3.729464635351596e-5
allele num: 107254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.397C>T
  hgvsp: ENSP00000325951.3:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*86C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.490C>T
  hgvsp: ENSP00000370571.1:p.Arg164Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.146C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.478C>T
  hgvsp: ENSP00000370567.1:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*86C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.409C>T
  hgvsp: ENSP00000328814.5:p.Arg137Cys
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22277
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6603
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg164Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-2189814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189814
    reference: chr 11
allele count: 1
allele frequency: 9.317406779345172e-6
allele num: 107326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.475G>T
  hgvsp: ENSP00000370567.1:p.Val159Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.143G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*83G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.487G>T
  hgvsp: ENSP00000370571.1:p.Val163Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.394G>T
  hgvsp: ENSP00000325951.3:p.Val132Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.406G>T
  hgvsp: ENSP00000328814.5:p.Val136Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*83G>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val163Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

11-2189814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189814
    reference: chr 11
allele count: 4
allele frequency: 3.726962711738069e-5
allele num: 107326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.406G>A
  hgvsp: ENSP00000328814.5:p.Val136Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.475G>A
  hgvsp: ENSP00000370567.1:p.Val159Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.394G>A
  hgvsp: ENSP00000325951.3:p.Val132Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*83G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.487G>A
  hgvsp: ENSP00000370571.1:p.Val163Met
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*83G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.143G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val163Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-2189817-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189817
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189817
    reference: chr 11
allele count: 20
allele frequency: 1.86250954536142e-4
allele num: 107382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.472T>G
  hgvsp: ENSP00000370567.1:p.Phe158Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*80T>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*80T>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.403T>G
  hgvsp: ENSP00000328814.5:p.Phe135Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.140T>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.484T>G
  hgvsp: ENSP00000370571.1:p.Phe162Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.391T>G
  hgvsp: ENSP00000325951.3:p.Phe131Val
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe162Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-2189822-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189822
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189822
    reference: chr 11
allele count: 1
allele frequency: 9.319143384340112e-6
allele num: 107306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.467A>C
  hgvsp: ENSP00000370567.1:p.Glu156Ala
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.135A>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.386A>C
  hgvsp: ENSP00000325951.3:p.Glu129Ala
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.398A>C
  hgvsp: ENSP00000328814.5:p.Glu133Ala
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*75A>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.479A>C
  hgvsp: ENSP00000370571.1:p.Glu160Ala
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*75A>C
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu160Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

11-2189825-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189825
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189825
    reference: chr 11
allele count: 1
allele frequency: 9.326618168252191e-6
allele num: 107220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.383T>A
  hgvsp: ENSP00000325951.3:p.Leu128Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.464T>A
  hgvsp: ENSP00000370567.1:p.Leu155Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.395T>A
  hgvsp: ENSP00000328814.5:p.Leu132Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.476T>A
  hgvsp: ENSP00000370571.1:p.Leu159Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*72T>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.132T>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*72T>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu159Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-2189830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189830
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189830
    reference: chr 11
allele count: 2
allele frequency: 1.867692652497105e-5
allele num: 107084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*67C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.390C>T
  hgvsp: ENST00000333684.5:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.459C>T
  hgvsp: ENST00000381175.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.471C>T
  hgvsp: ENST00000381178.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*67C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.378C>T
  hgvsp: ENST00000352909.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.127C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14680
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro157Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

11-2189831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189831
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189831
    reference: chr 11
allele count: 1
allele frequency: 9.330098899048329e-6
allele num: 107180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.377C>T
  hgvsp: ENSP00000325951.3:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.126C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.458C>T
  hgvsp: ENSP00000370567.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*66C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.470C>T
  hgvsp: ENSP00000370571.1:p.Pro157Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.389C>T
  hgvsp: ENSP00000328814.5:p.Pro130Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*66C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro157Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-2189834-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189834
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189834
    reference: chr 11
allele count: 1
allele frequency: 9.348939830223253e-6
allele num: 106964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*63G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.386G>T
  hgvsp: ENSP00000328814.5:p.Gly129Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.467G>T
  hgvsp: ENSP00000370571.1:p.Gly156Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*63G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.455G>T
  hgvsp: ENSP00000370567.1:p.Gly152Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.374G>T
  hgvsp: ENSP00000325951.3:p.Gly125Val
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.123G>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly156Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

11-2189836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189836
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189836
    reference: chr 11
allele count: 1
allele frequency: 9.343349403894308e-6
allele num: 107028
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.465G>A
  hgvsp: ENST00000381178.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.453G>A
  hgvsp: ENST00000381175.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.384G>A
  hgvsp: ENST00000333684.5:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.121G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*61G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*61G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.372G>A
  hgvsp: ENST00000352909.3:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly155Gly
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

11-2189843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189843
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189843
    reference: chr 11
allele count: 6
allele frequency: 5.617241185612373e-5
allele num: 106814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.114G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*54G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*54G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.446G>A
  hgvsp: ENSP00000370567.1:p.Arg149Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.365G>A
  hgvsp: ENSP00000325951.3:p.Arg122Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.458G>A
  hgvsp: ENSP00000370571.1:p.Arg153Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.377G>A
  hgvsp: ENSP00000328814.5:p.Arg126Gln
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24581
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg153Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-2189844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189844
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189844
    reference: chr 11
allele count: 3
allele frequency: 2.809620139357159e-5
allele num: 106776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*53C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.445C>T
  hgvsp: ENSP00000370567.1:p.Arg149Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.457C>T
  hgvsp: ENSP00000370571.1:p.Arg153Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.364C>T
  hgvsp: ENSP00000325951.3:p.Arg122Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.376C>T
  hgvsp: ENSP00000328814.5:p.Arg126Ter
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.113C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*53C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24671
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg153Ter
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

11-2189845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189845
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189845
    reference: chr 11
allele count: 34
allele frequency: 3.183162940493577e-4
allele num: 106812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.363G>A
  hgvsp: ENST00000352909.3:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.456G>A
  hgvsp: ENST00000381178.1:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.112G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.444G>A
  hgvsp: ENST00000381175.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*52G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.375G>A
  hgvsp: ENST00000333684.5:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*52G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24792
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro152Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-2189846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189846
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189846
    reference: chr 11
allele count: 6
allele frequency: 5.620924829498614e-5
allele num: 106744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.111C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*51C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.455C>T
  hgvsp: ENSP00000370571.1:p.Pro152Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.374C>T
  hgvsp: ENSP00000328814.5:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*51C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.362C>T
  hgvsp: ENSP00000325951.3:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.443C>T
  hgvsp: ENSP00000370567.1:p.Pro148Leu
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro152Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

11-2189848-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189848
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189848
    reference: chr 11
allele count: 2
allele frequency: 1.874273718933913e-5
allele num: 106708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.372G>A
  hgvsp: ENST00000333684.5:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.453G>A
  hgvsp: ENST00000381178.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.360G>A
  hgvsp: ENST00000352909.3:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*49G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.441G>A
  hgvsp: ENST00000381175.1:c.441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.109G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*49G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg151Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/11-2189856-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189856
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189856
    reference: chr 11
allele count: 1
allele frequency: 9.397083145391671e-6
allele num: 106416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*41G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.433G>T
  hgvsp: ENSP00000370567.1:p.Ala145Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.364G>T
  hgvsp: ENSP00000328814.5:p.Ala122Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.445G>T
  hgvsp: ENSP00000370571.1:p.Ala149Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*41G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.101G>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.352G>T
  hgvsp: ENSP00000325951.3:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala149Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

11-2189856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189856
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189856
    reference: chr 11
allele count: 7
allele frequency: 6.577958201774169e-5
allele num: 106416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.364G>A
  hgvsp: ENSP00000328814.5:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*41G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.433G>A
  hgvsp: ENSP00000370567.1:p.Ala145Thr
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*41G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.352G>A
  hgvsp: ENSP00000325951.3:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.445G>A
  hgvsp: ENSP00000370571.1:p.Ala149Thr
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.101G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15480
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36393
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala149Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

11-2189857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189857
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189857
    reference: chr 11
allele count: 5
allele frequency: 4.69545292338899e-5
allele num: 106486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.432C>T
  hgvsp: ENST00000381175.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.444C>T
  hgvsp: ENST00000381178.1:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.351C>T
  hgvsp: ENST00000352909.3:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.363C>T
  hgvsp: ENST00000333684.5:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.100C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro148Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-2189861-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189861
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189861
    reference: chr 11
allele count: 1
allele frequency: 9.406983744732089e-6
allele num: 106304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*36G>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.440G>C
  hgvsp: ENSP00000370571.1:p.Arg147Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.428G>C
  hgvsp: ENSP00000370567.1:p.Arg143Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*36G>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.359G>C
  hgvsp: ENSP00000328814.5:p.Arg120Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.347G>C
  hgvsp: ENSP00000325951.3:p.Arg116Pro
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.96G>C
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg147Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

11-2189861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189861
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189861
    reference: chr 11
allele count: 3
allele frequency: 2.822095123419627e-5
allele num: 106304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*36G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.96G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.359G>A
  hgvsp: ENSP00000328814.5:p.Arg120Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.428G>A
  hgvsp: ENSP00000370567.1:p.Arg143Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.440G>A
  hgvsp: ENSP00000370571.1:p.Arg147Gln
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*36G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.347G>A
  hgvsp: ENSP00000325951.3:p.Arg116Gln
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7572
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg147Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-2189862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189862
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189862
    reference: chr 11
allele count: 2
allele frequency: 1.883097318469418e-5
allele num: 106208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.427C>T
  hgvsp: ENSP00000370567.1:p.Arg143Trp
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.95C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*35C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.346C>T
  hgvsp: ENSP00000325951.3:p.Arg116Trp
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.439C>T
  hgvsp: ENSP00000370571.1:p.Arg147Trp
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.358C>T
  hgvsp: ENSP00000328814.5:p.Arg120Trp
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*35C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15568
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg147Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

11-2189862-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189862
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189862
    reference: chr 11
allele count: 2
allele frequency: 1.883097318469418e-5
allele num: 106208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.439C>A
  hgvsp: ENST00000381178.1:c.439C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.346C>A
  hgvsp: ENST00000352909.3:c.346C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.427C>A
  hgvsp: ENST00000381175.1:c.427C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*35C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.358C>A
  hgvsp: ENST00000333684.5:c.358C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.95C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*35C>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg147Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

11-2189864-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189864
    reference: chr 11
allele count: 2
allele frequency: 1.884197237766849e-5
allele num: 106146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.437C>T
  hgvsp: ENSP00000370571.1:p.Thr146Ile
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*33C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*33C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.93C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.425C>T
  hgvsp: ENSP00000370567.1:p.Thr142Ile
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.356C>T
  hgvsp: ENSP00000328814.5:p.Thr119Ile
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.344C>T
  hgvsp: ENSP00000325951.3:p.Thr115Ile
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr146Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

11-2189864-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189864
    reference: chr 11
allele count: 1
allele frequency: 9.420986188834247e-6
allele num: 106146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.93C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*33C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.437C>G
  hgvsp: ENSP00000370571.1:p.Thr146Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*33C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.425C>G
  hgvsp: ENSP00000370567.1:p.Thr142Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.356C>G
  hgvsp: ENSP00000328814.5:p.Thr119Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.344C>G
  hgvsp: ENSP00000325951.3:p.Thr115Ser
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr146Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-2189868-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189868
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189868
    reference: chr 11
allele count: 1
allele frequency: 9.43716733985127e-6
allele num: 105964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*29G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*29G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.421G>A
  hgvsp: ENSP00000370567.1:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.340G>A
  hgvsp: ENSP00000325951.3:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.352G>A
  hgvsp: ENSP00000328814.5:p.Glu118Lys
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.89G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.433G>A
  hgvsp: ENSP00000370571.1:p.Glu145Lys
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu145Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

11-2189891-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189891
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189891
    reference: chr 11
allele count: 3
allele frequency: 2.956364066380228e-5
allele num: 101476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.317T>C
  hgvsp: ENSP00000325951.3:p.Phe106Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.66T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*6T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.398T>C
  hgvsp: ENSP00000370567.1:p.Phe133Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.329T>C
  hgvsp: ENSP00000328814.5:p.Phe110Ser
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*6T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.410T>C
  hgvsp: ENSP00000370571.1:p.Phe137Ser
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14444
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe137Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-2189893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189893
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189893
    reference: chr 11
allele count: 1
allele frequency: 9.928514694201747e-6
allele num: 100720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*4G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.408G>A
  hgvsp: ENST00000381178.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.327G>A
  hgvsp: ENST00000333684.5:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.64G>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.396G>A
  hgvsp: ENST00000381175.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.315G>A
  hgvsp: ENST00000352909.3:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*4G>A
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18883
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.5e0
  variant carriers: 0
hgvs: c.408G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS

11-2189898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189898
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189898
    reference: chr 11
allele count: 1
allele frequency: 1.014713343480467e-5
allele num: 98550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.59A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-3A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-3A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-3A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-3A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-3A>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-3A>G
  variant of: http://identifiers.org/hgnc/11782
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
hgvs: c.406-3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-2189904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189904
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189904
    reference: chr 11
allele count: 193
allele frequency: 2.049833251906451e-3
allele num: 94154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-9C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-9C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-9C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.53C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-9C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-9C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-9C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10986
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 16055
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 9.75e1
  variant carriers: 191
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

11-2189907-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189907
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189907
    reference: chr 11
allele count: 1
allele frequency: 1.074367734588195e-5
allele num: 93078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-12T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-12T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-12T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-12T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-12T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.50T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-12T>C
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

11-2189913-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189913
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 87752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.44C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-18C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-18C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-18C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-18C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-18C>G
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-18C>G
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-2189915-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189915
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189913
    reference: chr 11
allele count: 6
allele frequency: 7.073302996722703e-5
allele num: 84826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-22_*2-21delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-22_313-21delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.40_41delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-22_406-21delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-22_*2-21delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-22_325-21delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-22_394-21delCT
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: AAG
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

11-2189915-AAGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189915
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189911
    reference: chr 11
allele count: 1
allele frequency: 1.178883832787117e-5
allele num: 84826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-24_313-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-24_325-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-24_*2-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.38_41delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-24_394-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-24_406-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-24_*2-21delCTCT
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AAGAG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

11-2189917-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189917
    reference: chr 11
allele count: 1
allele frequency: 1.200422548737155e-5
allele num: 83304
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-22C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.40C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-22C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-22C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-22C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-22C>A
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-22C>A
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24843
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-2189929-GAGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189929
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189925
    reference: chr 11
allele count: 1157
allele frequency: 1.662260789609793e-2
allele num: 69604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.24_27delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-38_*2-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-38_313-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-38_*2-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-38_406-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-38_325-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-38_394-35delTTCT
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15254
  bin: 7.5e0
  variant carriers: 502
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 24061
  bin: 1.25e1
  variant carriers: 748
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 1.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 3.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 1.75e1
  variant carriers: 11
num of homozygotes: 57
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: GAGAA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

11-2189933-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189933
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189931
    reference: chr 11
allele count: 1
allele frequency: 1.677120719149364e-5
allele num: 59626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-40_*2-39delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-40_394-39delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.22_23delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-40_406-39delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-40_325-39delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-40_313-39delCT
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-40_*2-39delCT
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: AAG
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-2189934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189934
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189934
    reference: chr 11
allele count: 1
allele frequency: 1.795977011494253e-5
allele num: 55680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-39T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-39T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-39T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-39T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-39T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.23T>C
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-39T>C
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-2189935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2189935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 2189935
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 57230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000328814
  ensembl transcript: ENST00000333684
  gene symbol: TH
  hgvsc: ENST00000333684.5:c.325-40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370571
  ensembl transcript: ENST00000381178
  gene symbol: TH
  hgvsc: ENST00000381178.1:c.406-40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000180176
  ensembl transcript: ENST00000469226
  gene symbol: TH
  hgvsc: ENST00000469226.1:n.22C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325831
  ensembl transcript: ENST00000324155
  gene symbol: TH
  hgvsc: ENST00000324155.4:c.*2-40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370560
  ensembl transcript: ENST00000381168
  gene symbol: TH
  hgvsc: ENST00000381168.3:c.*2-40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000325951
  ensembl transcript: ENST00000352909
  gene symbol: TH
  hgvsc: ENST00000352909.3:c.313-40C>T
  variant of: http://identifiers.org/hgnc/11782
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000180176
  ensembl protein: ENSP00000370567
  ensembl transcript: ENST00000381175
  gene symbol: TH
  hgvsc: ENST00000381175.1:c.394-40C>T
  variant of: http://identifiers.org/hgnc/11782
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19091
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

11-62342388-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342388
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342385
    reference: chr 11
allele count: 18
allele frequency: 1.323529411764706e-3
allele num: 13600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-11_345-9delCCT
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-11_197-9delCCT
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254772
  ensembl protein: ENSP00000367258
  ensembl transcript: ENST00000378019
  gene symbol: EEF1G
  hgvsc: ENST00000378019.3:c.-81_-79delCCT
  variant of: http://identifiers.org/hgnc/3213
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-11_1475-9delCCT
  variant of: http://identifiers.org/hgnc/38896
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34537
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32225
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: AAGG
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-62342393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342393
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342393
    reference: chr 11
allele count: 189
allele frequency: 1.388684790595151e-2
allele num: 13610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254772
  ensembl protein: ENSP00000367258
  ensembl transcript: ENST00000378019
  gene symbol: EEF1G
  hgvsc: ENST00000378019.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/3213
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-13C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-13C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-13C>T
  variant of: http://identifiers.org/hgnc/38896
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 34894
  bin: 2.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 7.5e0
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4402
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 31975
  bin: 7.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.75e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.25e1
  variant carriers: 11
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

11-62342412-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342412
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342411
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 14184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-33delG
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-33delG
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-33delG
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31922
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
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: GC
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

11-62342424-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342424
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342424
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 15298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-44C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-44C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-44C>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19143
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/11-62342425-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342425
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342425
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 15368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-45T>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-45T>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-45T>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19748
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-62342430-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342430
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342430
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 16320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-50A>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-50A>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-50A>T
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22573
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18949
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

11-62342517-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342517
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342517
    reference: chr 11
allele count: 1
allele frequency: 9.089752213354665e-6
allele num: 110014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*49C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-137C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-137C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-137C>T
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-62342520-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342520
    reference: chr 11
allele count: 1
allele frequency: 9.091900934647416e-6
allele num: 109988
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-140A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*46A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-140A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-140A>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-62342520-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342520
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342519
    reference: chr 11
allele count: 1
allele frequency: 9.091900934647416e-6
allele num: 109988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*45delC
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-141delC
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*45delC
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-141delC
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-141delC
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23205
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: TG
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

11-62342521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342521
    reference: chr 11
allele count: 38
allele frequency: 3.456179284752792e-4
allele num: 109948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-141C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*45C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-141C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-141C>T
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23264
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17752
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 9.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS

11-62342534-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342534
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342534
    reference: chr 11
allele count: 4
allele frequency: 3.636694244931357e-5
allele num: 109990
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*32T>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2032T>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-154T>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*32T>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-154T>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-154T>A
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-62342543-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342543
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342542
    reference: chr 11
allele count: 2
allele frequency: 1.815508069933371e-5
allele num: 110162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*22delA
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*22delA
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-164delA
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-164delA
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2022delA
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-164delA
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: AT
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-62342543-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342543
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342543
    reference: chr 11
allele count: 1
allele frequency: 9.077540349666854e-6
allele num: 110162
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*23T>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-163T>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*23T>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-163T>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2023T>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-163T>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

11-62342544-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342544
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342544
    reference: chr 11
allele count: 6
allele frequency: 5.445634416409512e-5
allele num: 110180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-164A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2022A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*22A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-164A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-164A>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-62342553-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342553
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342553
    reference: chr 11
allele count: 1
allele frequency: 9.049773755656109e-6
allele num: 110500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2013T>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*13T>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-173T>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-173T>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-173T>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*13T>A
  variant of: http://identifiers.org/hgnc/26184
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

11-62342558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342558
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342558
    reference: chr 11
allele count: 1
allele frequency: 9.033913310567871e-6
allele num: 110694
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*8G>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-178G>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*8G>A
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-178G>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-178G>A
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2008G>A
  variant of: http://identifiers.org/hgnc/26184
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-62342561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342561
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342561
    reference: chr 11
allele count: 7
allele frequency: 6.311423676855107e-5
allele num: 110910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-181A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-181A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-181A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*5A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2005A>G
  variant of: http://identifiers.org/hgnc/26184
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

11-62342562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342562
    reference: chr 11
allele count: 2
allele frequency: 1.802711277761754e-5
allele num: 110944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-182C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-182C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*4C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-182C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2004C>T
  variant of: http://identifiers.org/hgnc/26184
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-62342564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342564
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342564
    reference: chr 11
allele count: 3
allele frequency: 2.703530811239479e-5
allele num: 110966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.2002G>C
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-184G>C
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.*2G>C
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-184G>C
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-184G>C
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.*2G>C
  variant of: http://identifiers.org/hgnc/26184
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-62342572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342572
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342572
    reference: chr 11
allele count: 9
allele frequency: 8.087706685837527e-5
allele num: 111280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-192C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.2733C>G
  hgvsp: ENST00000308436.7:c.2733C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.2619C>G
  hgvsp: ENST00000476907.1:c.2619C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.1994C>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-192C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-192C>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu911Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

11-62342574-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342574
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342574
    reference: chr 11
allele count: 2
allele frequency: 1.795912503142847e-5
allele num: 111364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-194C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-194C>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.2731C>G
  hgvsp: ENSP00000308000.7:p.Leu911Val
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.1992C>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.2617C>G
  hgvsp: ENSP00000419607.1:p.Leu873Val
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-194C>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu911Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-62342583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342583
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342583
    reference: chr 11
allele count: 1
allele frequency: 8.956239812277214e-6
allele num: 111654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.1983A>G
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-203A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-203A>G
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.2608A>G
  hgvsp: ENSP00000419607.1:p.Ile870Val
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.2722A>G
  hgvsp: ENSP00000308000.7:p.Ile908Val
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-203A>G
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile908Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-62342592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342592
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62342592
    reference: chr 11
allele count: 3
allele frequency: 2.678332291759664e-5
allele num: 112010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000419607
  ensembl transcript: ENST00000476907
  gene symbol: TUT1
  hgvsc: ENST00000476907.1:c.2599C>T
  hgvsp: ENSP00000419607.1:p.Pro867Ser
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl protein: ENSP00000456163
  ensembl transcript: ENST00000496634
  gene symbol: MIR3654
  hgvsc: ENST00000496634.2:c.1475-212C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149016
  ensembl protein: ENSP00000308000
  ensembl transcript: ENST00000308436
  gene symbol: TUT1
  hgvsc: ENST00000308436.7:c.2713C>T
  hgvsp: ENSP00000308000.7:p.Pro905Ser
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149016
  ensembl transcript: ENST00000469480
  gene symbol: TUT1
  hgvsc: ENST00000469480.1:n.1974C>T
  variant of: http://identifiers.org/hgnc/26184
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000534745
  gene symbol: MIR3654
  hgvsc: ENST00000534745.1:n.197-212C>T
  variant of: http://identifiers.org/hgnc/38896
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255508
  ensembl transcript: ENST00000526409
  gene symbol: MIR3654
  hgvsc: ENST00000526409.1:n.345-212C>T
  variant of: http://identifiers.org/hgnc/38896
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro905Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

11-62342604-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62342604
    reference: chr 11
allele count: 2
allele frequency: 1.77166749344483e-5
allele num: 112888
alternate allele: C
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gln901Glu
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1753
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 717
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.70328734457503e-5
allele num: 58710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 1.477138e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.248439450686642e-4
allele num: 16020
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58814
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 2.736e0

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

DP
type: SiteQuality
SIO_000300: 1.477239e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

GenotypeQuality
all individuals: 4063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703461433633143e-5
allele num: 58704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.475867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 3.466e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.012e1

GenotypeQuality
all individuals: 1074
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2006
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3850
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.243162605668821e-4
allele num: 8044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.012e1

DP
type: SiteQuality
SIO_000300: 1.475867e6

FS
type: SiteQuality
SIO_000300: 3.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
all individuals: 2042
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.822821728034998e-4
allele num: 10972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 4.921e0

VQSLOD
type: SiteQuality
SIO_000300: -5.415e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.472676e6

GenotypeQuality
all individuals: 3724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30238
bin: 6.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4069
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
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variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.534526854219949e-4
allele num: 58650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.739e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.471934e6

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6266
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2041
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
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variant carriers: 0

GenotypeQuality
all individuals: 3586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
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variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.75e1
variant carriers: 7

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58458
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.251721116535236e-4
allele num: 15978
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 6.301991429291656e-4
allele num: 7934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

FS
type: SiteQuality
SIO_000300: 1.104e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

QD
type: SiteQuality
SIO_000300: 1.276e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 1.470989e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 30203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709460152483846e-5
allele num: 58498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.019e1

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

FS
type: SiteQuality
SIO_000300: 2.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

DP
type: SiteQuality
SIO_000300: 1.471139e6

GenotypeQuality
all individuals: 1975
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 31254
bin: 6.25e1
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GenotypeQuality
all individuals: 586
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708233686368295e-5
allele num: 58540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 1.470628e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.771e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 5.351e0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 367
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GenotypeQuality
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GenotypeQuality
all individuals: 3593
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30982
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709167977028783e-5
allele num: 58508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.470834e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.5e-1

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.545839885143912e-5
allele num: 58508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.265822784810127e-4
allele num: 7900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10970
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.247e1

FS
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

DP
type: SiteQuality
SIO_000300: 1.470834e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

GenotypeQuality
all individuals: 1778
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1692
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1087
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GenotypeQuality
all individuals: 31226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.422547744541036e-5
allele num: 58436
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.129085265656382e-5
allele num: 10954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 2.419e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.472668e6

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31551
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709343270315545e-5
allele num: 58502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.645e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
type: SiteQuality
SIO_000300: 7.24e0

DP
type: SiteQuality
SIO_000300: 1.472688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.416e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 6570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31551
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 714
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.234872808100766e-4
allele num: 8098
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.128029810946634e-5
allele num: 58502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.645e0

QD
type: SiteQuality
SIO_000300: 7.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.416e-1

DP
type: SiteQuality
SIO_000300: 1.472688e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

GenotypeQuality
all individuals: 858
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 33087
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.112447603426281e-5
allele num: 10974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.247197156138912e-4
allele num: 58512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.279e1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.475457e6

GenotypeQuality
all individuals: 33891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
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GenotypeQuality
all individuals: 4061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 762
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GenotypeQuality
all individuals: 6574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
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variant carriers: 0

GenotypeQuality
all individuals: 602
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.11410864017499e-5
allele num: 10972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.484e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

DP
type: SiteQuality
SIO_000300: 1.477927e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -2.584e0

FS
type: SiteQuality
SIO_000300: 5.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34507
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variant carriers: 0

GenotypeQuality
all individuals: 668
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variant carriers: 0

GenotypeQuality
all individuals: 142
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GenotypeQuality
all individuals: 3696
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variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 1150
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variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711156741957563e-5
allele num: 58440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

FS
type: SiteQuality
SIO_000300: 3.037e0

DP
type: SiteQuality
SIO_000300: 1.480596e6

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.293e0

GenotypeQuality
all individuals: 6532
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
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variant carriers: 0

GenotypeQuality
all individuals: 1106
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 832
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 714
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variant carriers: 0

GenotypeQuality
all individuals: 3714
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variant carriers: 0

GenotypeQuality
all individuals: 617
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variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58378
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.824817518248175e-4
allele num: 10960
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.486e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 1.48438e6

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.548e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.835e0

FS
type: SiteQuality
SIO_000300: 3.278e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
all individuals: 6568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 791
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4061
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variant carriers: 1

GenotypeQuality
all individuals: 349
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.271165182490907e-5
allele num: 15946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

DP
type: SiteQuality
SIO_000300: 1.485353e6

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.682e0

FS
type: SiteQuality
SIO_000300: 1.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.264e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 563
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34595
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1801
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GenotypeQuality
all individuals: 611
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GenotypeQuality
all individuals: 923
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GenotypeQuality
all individuals: 301
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variant carriers: 0

GenotypeQuality
all individuals: 4061
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variant carriers: 1

GenotypeQuality
all individuals: 340
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.296008294453084e-4
allele num: 7716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.639e0

QD
type: SiteQuality
SIO_000300: 5.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 8.82e0

DP
type: SiteQuality
SIO_000300: 1.486481e6

VQSLOD
type: SiteQuality
SIO_000300: -2.59e0

GenotypeQuality
all individuals: 1795
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 1.75e1
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GenotypeQuality
all individuals: 1195
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 714
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GenotypeQuality
all individuals: 1063
bin: 5.25e1
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GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 4.75e1
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GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.130752373995617e-5
allele num: 10952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 4.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.027e0

QD
type: SiteQuality
SIO_000300: 2.198e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.156e0

DP
type: SiteQuality
SIO_000300: 1.487767e6

GenotypeQuality
all individuals: 630
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1029
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.43112026076514e-5
allele num: 58290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.956629491945477e-4
allele num: 8070
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 4.217e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

DP
type: SiteQuality
SIO_000300: 1.49293e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 8.66e0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4062
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 694
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.717472118959108e-4
allele num: 8070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

DP
type: SiteQuality
SIO_000300: 1.493436e6

FS
type: SiteQuality
SIO_000300: 2.216e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
all individuals: 626
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 726
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4092
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 163
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15878
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.913383772501957e-4
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.139097057210747e-5
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 5.144385760340216e-4
allele num: 58316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.495682e6

FS
type: SiteQuality
SIO_000300: 1.093e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15876
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.491488193300384e-4
allele num: 10926
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

FS
type: SiteQuality
SIO_000300: 3.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
type: SiteQuality
SIO_000300: 1.494546e6

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4063
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.432887058015791e-5
allele num: 58260
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 1.495629e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 7.18e-1

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36393
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718508334765424e-5
allele num: 58190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

DP
type: SiteQuality
SIO_000300: 1.496695e6

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

GenotypeQuality
all individuals: 135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7141
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.202955834335797e-4
allele num: 58190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.44e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

DP
type: SiteQuality
SIO_000300: 1.496695e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3755
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4065
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.486325211337643e-4
allele num: 8044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.4348916291691e-5
allele num: 58226
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.334726973267453e-5
allele num: 15786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 6.012e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.497791e6

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

GenotypeQuality
all individuals: 492
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
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GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.346788525006347e-5
allele num: 15756
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

DP
type: SiteQuality
SIO_000300: 1.496858e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
all individuals: 699
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4064
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.158361704322707e-5
allele num: 58158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.888e1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 1.496858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.350819255683983e-5
allele num: 15746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.720637324064834e-5
allele num: 58118
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.356e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

DP
type: SiteQuality
SIO_000300: 1.496618e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270163851136797e-4
allele num: 15746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 1.356e0

DP
type: SiteQuality
SIO_000300: 1.496618e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.443881943726969e-5
allele num: 58074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

FS
type: SiteQuality
SIO_000300: 8.596e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

DP
type: SiteQuality
SIO_000300: 1.493591e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.077e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.245562130177515e-5
allele num: 10816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.077e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

FS
type: SiteQuality
SIO_000300: 8.596e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.493591e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.083e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 9.51e0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724792162544413e-5
allele num: 57978
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.612e1

VQSLOD
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 8.481999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.493142e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.796e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 457
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.970313936687246e-4
allele num: 15226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.410141e6

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.816728435433471e-5
allele num: 55044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4776
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African
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South Asian
type: Population
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allele num: 15152
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MQ
type: SiteQuality
SIO_000300: 5.843e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

QD
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.395269e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
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allele num: 53784
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South Asian
type: Population
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.494768310911809e-4
allele num: 6690
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.085070892410342e-4
allele num: 9592
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 1.95381188699152e-5
allele num: 51182
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.287701418537391e-2
allele num: 14522
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East Asian
type: Population
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Other
type: Population
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allele frequency: 2.967359050445104e-3
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MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.240339e6

GenotypeQuality
all individuals: 2805
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.433897332950961e-4
allele num: 6974
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.196549e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
all individuals: 8830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4033
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.068382e6

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 645
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4034
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.656177542232527e-4
allele num: 6038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.087429317094389e-4
allele num: 45980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 1.046431e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 1909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45980
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.560549313358302e-4
allele num: 6408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.046431e6

QD
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 782
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5714
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.214643220977101e-5
allele num: 45154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.023948e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.191e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

GenotypeQuality
all individuals: 29169
bin: 2.25e1
variant carriers: 20

GenotypeQuality
all individuals: 897
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1743
bin: 1.25e1
variant carriers: 8

GenotypeQuality
all individuals: 5424
bin: 9.75e1
variant carriers: 1397

GenotypeQuality
all individuals: 280
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 11775
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 3.75e1
variant carriers: 23

GenotypeQuality
all individuals: 197
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 18

European (Finnish)
type: Population
allele count: 121
allele frequency: 4.152367879203844e-2
allele num: 2914
num of homozygotes: 1

Other
type: Population
allele count: 6
allele frequency: 1.167315175097276e-2
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 72
allele frequency: 1.360030222893842e-2
allele num: 5294
num of homozygotes: 1

Latino
type: Population
allele count: 847
allele frequency: 1.340614118391896e-1
allele num: 6318
num of homozygotes: 54

African
type: Population
allele count: 9
allele frequency: 1.885211562630917e-3
allele num: 4774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 94
allele frequency: 2.510817885570811e-3
allele num: 37438
num of homozygotes: 1

South Asian
type: Population
allele count: 8
allele frequency: 6.476683937823834e-4
allele num: 12352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 1.394e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 8.75643e5

MQ
type: SiteQuality
SIO_000300: 5.531e1

GenotypeQuality
all individuals: 1962
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25302
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.086610284585468e-5
allele num: 32398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 1.214e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 8.14996e5

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 1907
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3924
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.892050506846879e-5
allele num: 11246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4280
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 5.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 8.16625e5

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.591e0

GenotypeQuality
all individuals: 334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16857
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.11666e5

QD
type: SiteQuality
SIO_000300: 7.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.467e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 40
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 15
allele frequency: 2.427184466019417e-2
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.541942043721403e-4
allele num: 3934
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.316829075585989e-4
allele num: 7594
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.807692307692308e-3
allele num: 208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.715e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 2.67037e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 15

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 30

GenotypeQuality
all individuals: 686
bin: 6.75e1
variant carriers: 17

African
type: Population
allele count: 4
allele frequency: 6.41025641025641e-3
allele num: 624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 128
allele frequency: 3.224181360201511e-2
allele num: 3970
num of homozygotes: 4

Other
type: Population
allele count: 1
allele frequency: 6.493506493506494e-3
allele num: 154
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.358490566037736e-2
allele num: 212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 7.334963325183374e-3
allele num: 818
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 5.930416447021613e-3
allele num: 7588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.77135e5

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 89
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 3.1521e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

MQ
type: SiteQuality
SIO_000300: 5.846e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.243e0

QD
type: SiteQuality
SIO_000300: 1.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 3.59811e5

GenotypeQuality
all individuals: 53
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.64137e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 624
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7810
num of homozygotes: 0

African
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: 352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5762
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.88519e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.45e-2

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575299306868305e-5
allele num: 63480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.511e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.409665e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
all individuals: 7697
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 8.25e1
variant carriers: 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: 9568
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.414591e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 34410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 644
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.305e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.414591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 7663
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.355680171381766e-4
allele num: 63484
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.065262288310616e-4
allele num: 9684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.751313485113835e-4
allele num: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
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: 794
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.416862e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 38607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.295048944005539e-5
allele num: 63542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.592e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.438919e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
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: 8472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.141788934619372e-5
allele num: 63658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 5.705e0

DP
type: SiteQuality
SIO_000300: 1.449657e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39555
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570894467309686e-5
allele num: 63658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
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: 8472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 1.449657e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 5.705e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7854
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39636
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
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: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.31575590048905e-4
allele num: 9406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570795765134617e-5
allele num: 63662
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.098e0

DP
type: SiteQuality
SIO_000300: 1.45011e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63800
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.058201058201058e-4
allele num: 9450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
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: 796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.752e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.45831e6

QD
type: SiteQuality
SIO_000300: 1.594e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.805e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7915
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63862
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: 8532
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.463205e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.34e0

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.646e0

GenotypeQuality
all individuals: 234
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.384971532253019e-5
allele num: 63932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.986019572598362e-5
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
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: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-1

DP
type: SiteQuality
SIO_000300: 1.465587e6

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
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: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.128030279333104e-5
allele num: 63938
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.466151e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

FS
type: SiteQuality
SIO_000300: 5.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.891e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.986857825567503e-4
allele num: 10044
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: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 4.469e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.467222e6

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

GenotypeQuality
all individuals: 1745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1734
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64036
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: 8
allele frequency: 9.365488176071178e-4
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.246882793017456e-3
allele num: 802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

FS
type: SiteQuality
SIO_000300: 1.258e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.471441e6

GenotypeQuality
all individuals: 2714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
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: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.971608832807571e-4
allele num: 10144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64056
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.423e0

VQSLOD
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.807e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.561e1

DP
type: SiteQuality
SIO_000300: 1.472268e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

GenotypeQuality
all individuals: 1392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
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: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.476715e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.719e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.24e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 7978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556371786092262e-5
allele num: 64252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.936406995230525e-5
allele num: 10064
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.508e0

DP
type: SiteQuality
SIO_000300: 1.48182e6

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.22e1