3-118870085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870085
    reference: chr 3
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1554C>T
  hgvsp: ENST00000494105.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1557C>T
  hgvsp: ENST00000295622.1:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3651C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.858C>T
  hgvsp: ENSP00000419675.1:p.Thr287Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3651C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.613C>T
  hgvsp: ENST00000492792.1:c.613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr287Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-118870106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870106
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870106
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.634G>A
  hgvsp: ENST00000492792.1:c.634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*17G>A
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3672G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1575G>A
  hgvsp: ENST00000494105.2:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1578G>A
  hgvsp: ENST00000295622.1:c.1578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3672G>A
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu526Glu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/3-118870108-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870108
    reference: chr 3
allele count: 7
allele frequency: 5.771482281549396e-5
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.636A>C
  hgvsp: ENSP00000419083.1:p.Asp213Ala
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3674A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*19A>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1580A>C
  hgvsp: ENSP00000295622.1:p.Asp527Ala
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1577A>C
  hgvsp: ENSP00000474929.1:p.Asp526Ala
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3674A>C
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp527Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-118870124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870124
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870124
    reference: chr 3
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1593G>C
  hgvsp: ENSP00000474929.1:p.Met531Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.652G>C
  hgvsp: ENSP00000419083.1:p.Met218Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*35G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3690G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1596G>C
  hgvsp: ENSP00000295622.1:p.Met532Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3690G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4657
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met532Ile
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: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-118870125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870125
    reference: chr 3
allele count: 9
allele frequency: 7.426600432393181e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.653C>T
  hgvsp: ENST00000492792.1:c.653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3691C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3691C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1597C>T
  hgvsp: ENST00000295622.1:c.1597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1594C>T
  hgvsp: ENST00000494105.2:c.1594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu533Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-118870129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870129
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870129
    reference: chr 3
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3695G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*40G>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1601G>T
  hgvsp: ENSP00000295622.1:p.Cys534Phe
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.657G>T
  hgvsp: ENSP00000419083.1:p.Cys220Phe
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1598G>T
  hgvsp: ENSP00000474929.1:p.Cys533Phe
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3695G>T
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys534Phe
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-118870132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870132
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870132
    reference: chr 3
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1604A>G
  hgvsp: ENSP00000295622.1:p.Gln535Arg
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.660A>G
  hgvsp: ENSP00000419083.1:p.Gln221Arg
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3698A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*43A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1601A>G
  hgvsp: ENSP00000474929.1:p.Gln534Arg
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3698A>G
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48031
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln535Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-118870134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870134
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870134
    reference: chr 3
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1603G>A
  hgvsp: ENSP00000474929.1:p.Val535Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3700G>A
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1606G>A
  hgvsp: ENSP00000295622.1:p.Val536Ile
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3700G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.662G>A
  hgvsp: ENSP00000419083.1:p.Val222Ile
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val536Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-118870138-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870138
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870138
    reference: chr 3
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*49A>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.666A>C
  hgvsp: ENSP00000419083.1:p.Ter223SerextTer?
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.1610A>C
  hgvsp: ENSP00000295622.1:p.Ter537SerextTer14
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3704A>C
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.1607A>C
  hgvsp: ENSP00000474929.1:p.Ter536SerextTer14
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3704A>C
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ter537SerextTer14
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-118870150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870150
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870150
    reference: chr 3
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*61A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3716A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*11A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3716A>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

3-118870153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870153
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870153
    reference: chr 3
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*64G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419083
  ensembl transcript: ENST00000492792
  gene symbol: C3orf30
  hgvsc: ENST00000492792.1:c.*14G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*14G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3719G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*14G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3719G>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-118870160-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870159
    reference: chr 3
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*26delT
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3731delT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*26delT
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*76delT
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3731delT
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: CT
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-118870164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870164
    reference: chr 3
allele count: 8
allele frequency: 6.643745743850382e-5
allele num: 120414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*75T>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3730T>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*25T>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3730T>C
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-118870180-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870180
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870180
    reference: chr 3
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*41A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*41A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3746A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3746A>G
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48027
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-118870189-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118870189
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118870188
    reference: chr 3
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+3756delA
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000295622
  ensembl transcript: ENST00000295622
  gene symbol: C3orf30
  hgvsc: ENST00000295622.1:c.*51delA
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000419675
  ensembl transcript: ENST00000473121
  gene symbol: C3orf30
  hgvsc: ENST00000473121.1:c.*101delA
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*51delA
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1288+3756delA
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48022
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

3-118878694-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878694
    reference: chr 3
allele count: 2
allele frequency: 1.634521085322001e-4
allele num: 12236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1289-46A>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12260A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*79-46A>T
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-118878717-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878717
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878717
    reference: chr 3
allele count: 1
allele frequency: 8.148631029986962e-5
allele num: 12272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12283A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1289-23A>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*79-23A>C
  variant of: http://identifiers.org/hgnc/26553
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 53
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1458
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 220
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genotype quality: GenotypeQuality
  all individuals: 749
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 313
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genotype quality: GenotypeQuality
  all individuals: 401
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 1074
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 623
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-118878734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878734
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878734
    reference: chr 3
allele count: 1
allele frequency: 8.136696501220504e-5
allele num: 12290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12300C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1289-6C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*79-6C>T
  variant of: http://identifiers.org/hgnc/26553
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 468
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
hgvs: c.*79-6C>T
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: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-118878762-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878762
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878762
    reference: chr 3
allele count: 1
allele frequency: 8.13140348024069e-5
allele num: 12298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*101G>C
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.1311G>C
  hgvsp: ENSP00000418207.1:p.Arg438Thr
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12328G>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg438Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

3-118878786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878786
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878786
    reference: chr 3
allele count: 1
allele frequency: 8.134049129656744e-5
allele num: 12294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*125G>A
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12352G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.*11G>A
  variant of: http://identifiers.org/hgnc/26553
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-118878789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878789
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878789
    reference: chr 3
allele count: 2982
allele frequency: 2.427943331704934e-1
allele num: 12282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*128C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12355C>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 2.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 99
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 2547
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.5e0
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 6.75e1
  variant carriers: 4
num of homozygotes: 387
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

3-118878813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878813
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878813
    reference: chr 3
allele count: 1
allele frequency: 8.145975887911372e-5
allele num: 12276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*152C>T
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12379C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.*38C>T
  variant of: http://identifiers.org/hgnc/26553
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-118878821-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118878821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118878821
    reference: chr 3
allele count: 1
allele frequency: 8.144648965629581e-5
allele num: 12278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000474929
  ensembl transcript: ENST00000494105
  gene symbol: C3orf30
  hgvsc: ENST00000494105.2:c.*160T>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000163424
  ensembl protein: ENSP00000418207
  ensembl transcript: ENST00000460150
  gene symbol: C3orf30
  hgvsc: ENST00000460150.1:c.*46T>G
  variant of: http://identifiers.org/hgnc/26553
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.213+12387T>G
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-118905538-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905538
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905538
    reference: chr 3
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-51T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1084T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-23T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-23T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1084T>G
  variant of: http://identifiers.org/hgnc/12578
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13494
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS

3-118905544-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905544
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905544
    reference: chr 3
allele count: 2
allele frequency: 1.649702228747711e-5
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-17G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-17G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-45G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1078G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1078G>T
  variant of: http://identifiers.org/hgnc/12578
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

3-118905545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905545
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905545
    reference: chr 3
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-16G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-16G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1077G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1077G>C
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13476
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-118905548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905548
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905548
    reference: chr 3
allele count: 89
allele frequency: 7.340085111998153e-4
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-13A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-41A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1074A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-13A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1074A>G
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17334
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 13499
  bin: 9.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-118905549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905549
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905549
    reference: chr 3
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-12T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-40T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-12T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1073T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1073T>C
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-118905549-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905549
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905549
    reference: chr 3
allele count: 649
allele frequency: 5.352135906317005e-3
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-28-12T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1073T>G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-40T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1073T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-28-12T>G
  variant of: http://identifiers.org/hgnc/12578
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 4.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17362
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 3.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 3.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 5.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 9.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20840
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 2
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-118905562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905562
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905562
    reference: chr 3
allele count: 558
allele frequency: 4.600544150383378e-3
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1060G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1060G>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 4.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 17763
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 9.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13261
  bin: 9.75e1
  variant carriers: 547
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: c.-27G>A
num of homozygotes: 10
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

3-118905569-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905569
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905569
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-20G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1053G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1053G>T
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-118905572-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905572
    reference: chr 3
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-17T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1050T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-17T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-17T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1050T>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

3-118905584-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905584
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905584
    reference: chr 3
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1038C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1038C>G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-5C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-5C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-5C>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13962
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

3-118905584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905584
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905584
    reference: chr 3
allele count: 2553
allele frequency: 2.103901241079228e-2
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1038C>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-5C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-5C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1038C>T
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 8.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.25e1
  variant carriers: 211
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 9.75e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 88
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-118905585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905585
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905585
    reference: chr 3
allele count: 9
allele frequency: 7.415463713664228e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.-4G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.-4G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1037G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1037G>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

3-118905598-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905598
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905598
    reference: chr 3
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.10G>C
  hgvsp: ENSP00000418399.1:p.Asp4His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1024G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.10G>C
  hgvsp: ENSP00000264234.3:p.Asp4His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1024G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.10G>C
  hgvsp: ENSP00000418597.1:p.Asp4His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.10G>C
  hgvsp: ENSP00000418116.1:p.Asp4His
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11960
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp4His
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-118905610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905610
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905610
    reference: chr 3
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.22G>A
  hgvsp: ENSP00000264234.3:p.Val8Ile
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1012G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.22G>A
  hgvsp: ENSP00000418399.1:p.Val8Ile
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.22G>A
  hgvsp: ENSP00000418597.1:p.Val8Ile
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.22G>A
  hgvsp: ENSP00000418116.1:p.Val8Ile
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1012G>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11955
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val8Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-118905613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905613
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905613
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.25C>T
  hgvsp: ENSP00000418116.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.25C>T
  hgvsp: ENSP00000264234.3:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1009C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1009C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.25C>T
  hgvsp: ENSP00000418597.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.25C>T
  hgvsp: ENSP00000418399.1:p.Arg9Cys
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11954
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg9Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

3-118905614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905614
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905614
    reference: chr 3
allele count: 26
allele frequency: 2.141962696895802e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.26G>A
  hgvsp: ENSP00000418116.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.26G>A
  hgvsp: ENSP00000264234.3:p.Arg9His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.26G>A
  hgvsp: ENSP00000418597.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1008G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.26G>A
  hgvsp: ENSP00000418399.1:p.Arg9His
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1008G>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11959
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg9His
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

3-118905619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905619
    reference: chr 3
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.31T>C
  hgvsp: ENSP00000264234.3:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1003T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.31T>C
  hgvsp: ENSP00000418116.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1003T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.31T>C
  hgvsp: ENSP00000418399.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.31T>C
  hgvsp: ENSP00000418597.1:p.Phe11Leu
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8936
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe11Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-118905620-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905620
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905620
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-1002T>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.32T>G
  hgvsp: ENSP00000418399.1:p.Phe11Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-1002T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.32T>G
  hgvsp: ENSP00000418597.1:p.Phe11Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.32T>G
  hgvsp: ENSP00000418116.1:p.Phe11Cys
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.32T>G
  hgvsp: ENSP00000264234.3:p.Phe11Cys
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe11Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

3-118905629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905629
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.41T>C
  hgvsp: ENSP00000418399.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-993T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.41T>C
  hgvsp: ENSP00000418597.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.41T>C
  hgvsp: ENSP00000264234.3:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-993T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.41T>C
  hgvsp: ENSP00000418116.1:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu14Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

3-118905641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905641
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905641
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.53G>A
  hgvsp: ENSP00000418116.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.53G>A
  hgvsp: ENSP00000264234.3:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.53G>A
  hgvsp: ENSP00000418597.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-981G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.53G>A
  hgvsp: ENSP00000418399.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-981G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8917
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11932
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly18Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

3-118905649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905649
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905649
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.61A>G
  hgvsp: ENSP00000418399.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-973A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.61A>G
  hgvsp: ENSP00000264234.3:p.Ile21Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-973A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.61A>G
  hgvsp: ENSP00000418597.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.61A>G
  hgvsp: ENSP00000418116.1:p.Ile21Val
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile21Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-118905654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905654
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905654
    reference: chr 3
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.66T>C
  hgvsp: ENST00000494855.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.66T>C
  hgvsp: ENST00000264234.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.66T>C
  hgvsp: ENST00000479520.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-968T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.66T>C
  hgvsp: ENST00000460625.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-968T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile22Ile
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

3-118905658-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905658
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905658
    reference: chr 3
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+1G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+1G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-964G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+1G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+1G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-964G>T
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
hgvs: c.69+1G>T
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

3-118905660-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905660
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905658
    reference: chr 3
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+4_69+5delAG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+4_69+5delAG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+4_69+5delAG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-961_214-960delAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-961_-171-960delAG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+4_69+5delAG
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: c.69+4_69+5delAG
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: AAG
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-118905661-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905661
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905661
    reference: chr 3
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-961A>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+4A>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+4A>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-961A>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+4A>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+4A>C
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 7.75e1
  variant carriers: 0
hgvs: c.69+4A>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

3-118905670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905670
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905670
    reference: chr 3
allele count: 4
allele frequency: 3.301746623964077e-5
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+13T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+13T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-952T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-952T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+13T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+13T>C
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11922
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-118905678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905678
    reference: chr 3
allele count: 10
allele frequency: 8.258729477057249e-5
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+21A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+21A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+21A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-944A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+21A>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-944A>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11916
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

3-118905689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905689
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905689
    reference: chr 3
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+32C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+32C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-933C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+32C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-933C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+32C>T
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11866
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-118905702-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905702
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905702
    reference: chr 3
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-920C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+45C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+45C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+45C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+45C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-920C>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

3-118905704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905704
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905704
    reference: chr 3
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+47T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+47T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+47T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-918T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+47T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-918T>C
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11840
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-118905708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118905708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118905708
    reference: chr 3
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-914T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.69+51T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.69+51T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.69+51T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.69+51T>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-914T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4866
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-118906571-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906571
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906571
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-51C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-51C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-51C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-51C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-51C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-51C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-118906571-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906571
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906571
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-51C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-51C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-51C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-51C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-51C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-51C>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19892
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-118906572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906572
    reference: chr 3
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-50C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-50C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-50C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-50C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-50C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-50C>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15545
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

3-118906572-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906572
    reference: chr 3
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-50C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-50C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-50C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-50C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-50C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-50C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9205
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-118906578-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906578
    reference: chr 3
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-44C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-44C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-44C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-44C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-44C>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-44C>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-118906578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906578
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906578
    reference: chr 3
allele count: 3
allele frequency: 2.47222863170386e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-44C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-44C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-44C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-44C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-44C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-44C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS

3-118906584-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906584
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906583
    reference: chr 3
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-37delG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-37delG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-37delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-37delG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-37delG
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-37delG
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13291
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: TG
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-118906588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906588
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906588
    reference: chr 3
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-34C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-34C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-34C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-34C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-34C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-34C>T
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

3-118906591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906591
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906591
    reference: chr 3
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-31C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-31C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-31C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-31C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-31C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-31C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9256
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

3-118906597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906597
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906597
    reference: chr 3
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-25G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-25G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-25G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-25G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-25G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-25G>A
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20584
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-118906616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906616
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906616
    reference: chr 3
allele count: 2974
allele frequency: 2.449793242063296e-2
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-6C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-6C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-6C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-6C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-6C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-6C>T
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 4.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15549
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 2171
genotype depth: GenotypeDepth
  all individuals: 16036
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.214-6C>T
num of homozygotes: 62
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-118906618-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906618
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906616
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-3_-171-2delCA
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-3_70-2delCA
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-3_70-2delCA
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-3_70-2delCA
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-3_70-2delCA
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-3_214-2delCA
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9683
  bin: 6.75e1
  variant carriers: 0
hgvs: c.214-3_214-2delCA
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: CCA
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-118906619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906619
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.214-3C>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.70-3C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.70-3C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.70-3C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.70-3C>G
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-171-3C>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
hgvs: c.214-3C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

3-118906627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906627
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906627
    reference: chr 3
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.75C>T
  hgvsp: ENST00000460625.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.219C>T
  hgvsp: ENST00000490594.1:c.219C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-166C>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.75C>T
  hgvsp: ENST00000494855.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.75C>T
  hgvsp: ENST00000479520.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.75C>T
  hgvsp: ENST00000264234.3:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11299
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys73Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-118906628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906628
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906628
    reference: chr 3
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-165G>A
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.76G>A
  hgvsp: ENSP00000418597.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.76G>A
  hgvsp: ENSP00000418116.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.76G>A
  hgvsp: ENSP00000264234.3:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.220G>A
  hgvsp: ENSP00000424708.1:p.Gly74Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.76G>A
  hgvsp: ENSP00000418399.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11296
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly74Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-118906628-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906628
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906628
    reference: chr 3
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-165G>C
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.220G>C
  hgvsp: ENSP00000424708.1:p.Gly74Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.76G>C
  hgvsp: ENSP00000418597.1:p.Gly26Arg
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.76G>C
  hgvsp: ENSP00000264234.3:p.Gly26Arg
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.76G>C
  hgvsp: ENSP00000418399.1:p.Gly26Arg
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.76G>C
  hgvsp: ENSP00000418116.1:p.Gly26Arg
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21606
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly74Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-118906629-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906629
    reference: chr 3
allele count: 17
allele frequency: 1.400306419993081e-4
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-164G>T
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.77G>T
  hgvsp: ENSP00000418116.1:p.Gly26Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.221G>T
  hgvsp: ENSP00000424708.1:p.Gly74Val
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.77G>T
  hgvsp: ENSP00000264234.3:p.Gly26Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.77G>T
  hgvsp: ENSP00000418399.1:p.Gly26Val
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.77G>T
  hgvsp: ENSP00000418597.1:p.Gly26Val
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11291
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly74Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-118906630-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906630
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.78C>G
  hgvsp: ENST00000494855.1:c.78C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.78C>G
  hgvsp: ENST00000479520.1:c.78C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.78C>G
  hgvsp: ENST00000264234.3:c.78C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.78C>G
  hgvsp: ENST00000460625.1:c.78C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.222C>G
  hgvsp: ENST00000490594.1:c.222C>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-163C>G
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly74Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-118906632-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 118906632
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 118906632
    reference: chr 3
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000251012
  ensembl protein: ENSP00000424708
  ensembl transcript: ENST00000490594
  gene symbol: RP11-484M3.5
  hgvsc: ENST00000490594.1:c.224T>C
  hgvsp: ENSP00000424708.1:p.Ile75Thr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000264234
  ensembl transcript: ENST00000264234
  gene symbol: UPK1B
  hgvsc: ENST00000264234.3:c.80T>C
  hgvsp: ENSP00000264234.3:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418399
  ensembl transcript: ENST00000479520
  gene symbol: UPK1B
  hgvsc: ENST00000479520.1:c.80T>C
  hgvsp: ENSP00000418399.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418116
  ensembl transcript: ENST00000460625
  gene symbol: UPK1B
  hgvsc: ENST00000460625.1:c.80T>C
  hgvsp: ENSP00000418116.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418597
  ensembl transcript: ENST00000494855
  gene symbol: UPK1B
  hgvsc: ENST00000494855.1:c.80T>C
  hgvsp: ENSP00000418597.1:p.Ile27Thr
  variant of: http://identifiers.org/hgnc/12578
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114638
  ensembl protein: ENSP00000418972
  ensembl transcript: ENST00000497685
  gene symbol: UPK1B
  hgvsc: ENST00000497685.1:c.-161T>C
  variant of: http://identifiers.org/hgnc/12578
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile75Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-118906635-C-T
type: Variant
location: Region
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Ala76Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
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: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 4.214632e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.222e0

MQ
type: SiteQuality
SIO_000300: 6.031e1

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: -1.566e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.118e0

MQRankSum
type: SiteQuality
SIO_000300: -1.544e0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6765
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.694e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.268e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 4.213496e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.97e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1067
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6753
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48036
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 900
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049632628579997e-4
allele num: 66690
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: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.187e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 4.213555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.077e0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.657e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 4.492e0

DP
type: SiteQuality
SIO_000300: 4.209872e6

VQSLOD
type: SiteQuality
SIO_000300: -4.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

QD
type: SiteQuality
SIO_000300: 1.615e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 651
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48031
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6664
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200156020282637e-4
allele num: 66658
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 4.210012e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.212e0

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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bin: 8.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 1.788e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.46e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.118e0

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.963e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.189e0

FS
type: SiteQuality
SIO_000300: 8.313000000000001e0

DP
type: SiteQuality
SIO_000300: 4.206625e6

VQSLOD
type: SiteQuality
SIO_000300: -5.403e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

QD
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SIO_000300: 1.319e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

GenotypeQuality
all individuals: 1067
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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
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.943e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.20558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

FS
type: SiteQuality
SIO_000300: 2.571e0

QD
type: SiteQuality
SIO_000300: 1.439e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.617e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

DP
type: SiteQuality
SIO_000300: 4.203892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 1.594e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.914e0

QD
type: SiteQuality
SIO_000300: 1.478e1

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6164
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.515e0

DP
type: SiteQuality
SIO_000300: 4.199399e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQ
type: SiteQuality
SIO_000300: 5.993e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.4174e1

VQSLOD
type: SiteQuality
SIO_000300: -2.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10132
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
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South Asian
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allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.457e0

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 9.328358208955224e-4
allele num: 8576
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
type: Population
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African
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allele frequency: 0.0e0
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East Asian
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num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
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QD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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Latino
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allele frequency: 8.706251088281386e-5
allele num: 11486
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

European (Finnish)
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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MQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
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allele count: 0
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African
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South Asian
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allele frequency: 2.637130801687763e-4
allele num: 7584
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

DP
type: SiteQuality
SIO_000300: 1.96194e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.596e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

GenotypeQuality
all individuals: 1392
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.31578947368421e-4
allele num: 7600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

FS
type: SiteQuality
SIO_000300: 1.2966e1

DP
type: SiteQuality
SIO_000300: 2.00272e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.071e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: -1.676e0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 2.00658e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.513e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

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

South Asian
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: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

DP
type: SiteQuality
SIO_000300: 2.00403e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.564000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.267e0

QD
type: SiteQuality
SIO_000300: 9.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
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: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.767017155506364e-4
allele num: 3614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.776e1

DP
type: SiteQuality
SIO_000300: 1.99922e5

FS
type: SiteQuality
SIO_000300: 1.863e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.689e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

VQSLOD
type: SiteQuality
SIO_000300: -3.311e0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 29
allele frequency: 2.196969696969697e-1
allele num: 132
num of homozygotes: 3

African
type: Population
allele count: 125
allele frequency: 2.264492753623188e-1
allele num: 552
num of homozygotes: 13

European (Non-Finnish)
type: Population
allele count: 548
allele frequency: 1.520532741398446e-1
allele num: 3604
num of homozygotes: 40

East Asian
type: Population
allele count: 18
allele frequency: 9.183673469387756e-2
allele num: 196
num of homozygotes: 1

Latino
type: Population
allele count: 51
allele frequency: 2.741935483870968e-1
allele num: 186
num of homozygotes: 9

South Asian
type: Population
allele count: 2210
allele frequency: 2.90407358738502e-1
allele num: 7610
num of homozygotes: 321

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.97e-2

DP
type: SiteQuality
SIO_000300: 2.65451e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 1.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 1547
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.538e0

QD
type: SiteQuality
SIO_000300: 1.704e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

DP
type: SiteQuality
SIO_000300: 2.04778e5

GenotypeQuality
all individuals: 534
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.798561151079137e-3
allele num: 556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.998e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

QD
type: SiteQuality
SIO_000300: 9.48e0

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

DP
type: SiteQuality
SIO_000300: 2.04155e5

GenotypeQuality
all individuals: 1728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.362543e6

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.579e1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 5045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8477
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13475
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4047
bin: 8.25e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.715e0

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

DP
type: SiteQuality
SIO_000300: 2.365591e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

FS
type: SiteQuality
SIO_000300: 4.851e0

QD
type: SiteQuality
SIO_000300: 8.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4042
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -4.895e0

QD
type: SiteQuality
SIO_000300: 2.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.451e0

DP
type: SiteQuality
SIO_000300: 2.365989e6

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 83
allele frequency: 1.245236594953041e-3
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.368465e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

QD
type: SiteQuality
SIO_000300: 1.549e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
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GenotypeQuality
all individuals: 5009
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GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.373526e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13626
bin: 9.75e1
variant carriers: 647

GenotypeQuality
all individuals: 3991
bin: 8.25e1
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GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

South Asian
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allele count: 20
allele frequency: 1.214624073849144e-3
allele num: 16466
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 563
allele frequency: 8.446351416226596e-3
allele num: 66656
num of homozygotes: 1

Latino
type: Population
allele count: 15
allele frequency: 1.296456352636128e-3
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 9.609840476648087e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 38
allele frequency: 5.747126436781609e-3
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.64e0

DP
type: SiteQuality
SIO_000300: 2.373526e6

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.949902504874756e-4
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 515
allele frequency: 4.949067845473765e-2
allele num: 10406
num of homozygotes: 10

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: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.16076058772688e-3
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.49e-1

DP
type: SiteQuality
SIO_000300: 2.382658e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.428e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.34e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1691
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.654e0

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 2.365376e6

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 8699
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

FS
type: SiteQuality
SIO_000300: 9.54e-1

DP
type: SiteQuality
SIO_000300: 2.365612e6

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.465103e6

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 13962
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variant carriers: 2463

GenotypeQuality
all individuals: 4920
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GenotypeQuality
all individuals: 3285
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variant carriers: 0

East Asian
type: Population
allele count: 1084
allele frequency: 1.25462962962963e-1
allele num: 8640
num of homozygotes: 67

European (Non-Finnish)
type: Population
allele count: 433
allele frequency: 6.491948784071487e-3
allele num: 66698
num of homozygotes: 5

African
type: Population
allele count: 455
allele frequency: 4.37247741687488e-2
allele num: 10406
num of homozygotes: 10

South Asian
type: Population
allele count: 478
allele frequency: 2.896267571497819e-2
allele num: 16504
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 6.910850034554251e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.762114537444934e-2
allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.465103e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-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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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 5124
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

DP
type: SiteQuality
SIO_000300: 2.354584e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.816e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
type: Population
allele count: 0
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allele num: 16508
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FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 2.354427e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16510
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
type: Population
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.354367e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
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East Asian
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South Asian
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Latino
type: Population
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African
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
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num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.765904285988853e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
num of homozygotes: 0

East Asian
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allele count: 13
allele frequency: 1.502542764678687e-3
allele num: 8652
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
type: Population
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allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 9.391999999999999e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

DP
type: SiteQuality
SIO_000300: 2.353914e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.353881e6

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

FS
type: SiteQuality
SIO_000300: 6.396e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 2.353528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.265e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.742e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.42e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.682e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e0

DP
type: SiteQuality
SIO_000300: 2.352769e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.902e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

QD
type: SiteQuality
SIO_000300: 8.08e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11931
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: -2.294e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.265e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -2.103e0

DP
type: SiteQuality
SIO_000300: 2.351912e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.214e0

QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11930
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 5
allele frequency: 4.324511330219685e-4
allele num: 11562
num of homozygotes: 1

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

DP
type: SiteQuality
SIO_000300: 2.351199e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.677e0

FS
type: SiteQuality
SIO_000300: 2.102e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.09e-2

QD
type: SiteQuality
SIO_000300: 1.567e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

GenotypeQuality
all individuals: 8885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 2.35003e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.609e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.6e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2526
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 2.34924e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 3.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.629e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.348621e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.41e0

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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variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.821493624772313e-4
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.344658e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3954
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5054
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.160631383472609e-3
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 2.335786e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16450
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.142e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 6.978e0

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 2.301809e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 2.247e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.662e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

DP
type: SiteQuality
SIO_000300: 2.235261e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.228198e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.206e1

FS
type: SiteQuality
SIO_000300: 3.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.016e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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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

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: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

European (Finnish)
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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: 10402
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.305049e6

FS
type: SiteQuality
SIO_000300: 2.156e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.339e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.005e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 2.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.339e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.305049e6

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

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

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
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: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 2.306954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.009e1

FS
type: SiteQuality
SIO_000300: 5.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.155e0

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.82e-1

GenotypeQuality
all individuals: 20504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2888
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.754e1

DP
type: SiteQuality
SIO_000300: 2.307861e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.048e0

FS
type: SiteQuality
SIO_000300: 1.527e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 6.15e0

MQRankSum
type: SiteQuality
SIO_000300: -1.466e0

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

GenotypeQuality
all individuals: 13289
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4091
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 1.841e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 2.308379e6

MQRankSum
type: SiteQuality
SIO_000300: -8.27e-1

FS
type: SiteQuality
SIO_000300: 1.3175e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13288
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4091
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.309041e6

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13632
bin: 9.75e1
variant carriers: 2909

GenotypeQuality
all individuals: 5108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3447
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 163
allele frequency: 1.407842459837623e-2
allele num: 11578
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 147
allele frequency: 2.223230490018149e-2
allele num: 6612
num of homozygotes: 4

Other
type: Population
allele count: 23
allele frequency: 2.533039647577092e-2
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 175
allele frequency: 1.059835271317829e-2
allele num: 16512
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 2407
allele frequency: 3.607073280383635e-2
allele num: 66730
num of homozygotes: 52

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

African
type: Population
allele count: 59
allele frequency: 5.670895809304114e-3
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 1.627e0

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.489654e6

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

GenotypeQuality
all individuals: 2949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21594
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.687e1

MQ
type: SiteQuality
SIO_000300: 6.057e1

MQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.411e0

DP
type: SiteQuality
SIO_000300: 2.246061e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 9681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21593
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.246004e6

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 1.015e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.568e0

GenotypeQuality
all individuals: 2949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21603
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variant carriers: 0

GenotypeQuality
all individuals: 9680
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.301e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.882e0

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 2.246412e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 9684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.246337e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 11296
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

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

GenotypeQuality
all individuals: 1904
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

DP
type: SiteQuality
SIO_000300: 2.246337e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.633986928104575e-3
allele num: 10404
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: 8654
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.418e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

DP
type: SiteQuality
SIO_000300: 2.247247e6

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.346e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11276
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21617
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.473e0

QD
type: SiteQuality
SIO_000300: 1.233e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 2.245597e6

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21620
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.194e0

QD
type: SiteQuality
SIO_000300: 1.376e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.245688e6

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1