16-30102427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102427
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102427
    reference: chr 16
allele count: 4
allele frequency: 8.87941751021133e-5
allele num: 45048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.88C>T
  hgvsp: ENSP00000279386.2:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.88C>T
  hgvsp: ENSP00000378650.2:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.88C>T
  hgvsp: ENSP00000460425.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.88C>T
  hgvsp: ENSP00000461223.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25918
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro30Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

16-30102442-C-CGGCCCCAGGTTGGGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102442
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102458
    reference: chr 16
allele count: 1
allele frequency: 2.167692707881731e-5
allele num: 46132
alternate allele: CGGCCCCAGGTTGGGCG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsp: ENSP00000279386.2:p.Asp25ArgfsTer26
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsp: ENSP00000378650.2:p.Asp25ArgfsTer26
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsp: ENSP00000461223.1:p.Asp25ArgfsTer26
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsp: ENSP00000460425.1:p.Asp25ArgfsTer26
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp25ArgfsTer26
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

16-30102442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102442
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102442
    reference: chr 16
allele count: 1
allele frequency: 2.167692707881731e-5
allele num: 46132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.73G>A
  hgvsp: ENSP00000461223.1:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.73G>A
  hgvsp: ENSP00000279386.2:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.73G>A
  hgvsp: ENSP00000378650.2:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.73G>A
  hgvsp: ENSP00000460425.1:p.Asp25Asn
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26702
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Asp25Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-30102445-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102445
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102445
    reference: chr 16
allele count: 3
allele frequency: 6.375111564452378e-5
allele num: 47058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.70G>T
  hgvsp: ENSP00000461223.1:p.Ala24Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.70G>T
  hgvsp: ENSP00000460425.1:p.Ala24Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.70G>T
  hgvsp: ENSP00000279386.2:p.Ala24Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.70G>T
  hgvsp: ENSP00000378650.2:p.Ala24Ser
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala24Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

16-30102452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102452
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102452
    reference: chr 16
allele count: 1
allele frequency: 2.0631318341242e-5
allele num: 48470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.63A>G
  hgvsp: ENST00000279386.2:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.63A>G
  hgvsp: ENST00000567664.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.63A>G
  hgvsp: ENST00000395224.2:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.63A>G
  hgvsp: ENST00000553607.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7859
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln21Gln
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

16-30102457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102457
    reference: chr 16
allele count: 2
allele frequency: 4.102227509537679e-5
allele num: 48754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.58G>A
  hgvsp: ENSP00000461223.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.58G>A
  hgvsp: ENSP00000279386.2:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.58G>A
  hgvsp: ENSP00000378650.2:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.58G>A
  hgvsp: ENSP00000460425.1:p.Ala20Thr
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala20Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-30102467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102467
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102467
    reference: chr 16
allele count: 2
allele frequency: 3.90625e-5
allele num: 51200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.48C>T
  hgvsp: ENST00000553607.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.48C>T
  hgvsp: ENST00000395224.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.48C>T
  hgvsp: ENST00000567664.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.48C>T
  hgvsp: ENST00000279386.2:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg16Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-30102468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102468
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102468
    reference: chr 16
allele count: 3
allele frequency: 5.850234009360375e-5
allele num: 51280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.47G>T
  hgvsp: ENSP00000461223.1:p.Arg16Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.47G>T
  hgvsp: ENSP00000378650.2:p.Arg16Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.47G>T
  hgvsp: ENSP00000460425.1:p.Arg16Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.47G>T
  hgvsp: ENSP00000279386.2:p.Arg16Leu
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27837
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg16Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

16-30102471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102471
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102471
    reference: chr 16
allele count: 1
allele frequency: 1.900273639404074e-5
allele num: 52624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.44A>G
  hgvsp: ENSP00000460425.1:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.44A>G
  hgvsp: ENSP00000378650.2:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.44A>G
  hgvsp: ENSP00000279386.2:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.44A>G
  hgvsp: ENSP00000461223.1:p.Tyr15Cys
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27740
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30033
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr15Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-30102471-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102471
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102470
    reference: chr 16
allele count: 1
allele frequency: 1.900273639404074e-5
allele num: 52624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.43delT
  hgvsp: ENSP00000378650.2:p.Tyr15ThrfsTer18
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.43delT
  hgvsp: ENSP00000461223.1:p.Tyr15ThrfsTer18
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.43delT
  hgvsp: ENSP00000460425.1:p.Tyr15ThrfsTer18
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.43delT
  hgvsp: ENSP00000279386.2:p.Tyr15ThrfsTer18
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr15ThrfsTer18
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: TA
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-30102475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102475
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102475
    reference: chr 16
allele count: 2
allele frequency: 3.772873042822109e-5
allele num: 53010
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.40G>A
  hgvsp: ENSP00000378650.2:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.40G>A
  hgvsp: ENSP00000461223.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.40G>A
  hgvsp: ENSP00000460425.1:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.40G>A
  hgvsp: ENSP00000279386.2:p.Gly14Ser
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30001
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly14Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

16-30102475-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102475
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102475
    reference: chr 16
allele count: 1
allele frequency: 1.886436521411054e-5
allele num: 53010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.40G>C
  hgvsp: ENSP00000460425.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.40G>C
  hgvsp: ENSP00000461223.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.40G>C
  hgvsp: ENSP00000378650.2:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.40G>C
  hgvsp: ENSP00000279386.2:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-30102476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102476
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102476
    reference: chr 16
allele count: 2
allele frequency: 3.766336484501525e-5
allele num: 53102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.39C>T
  hgvsp: ENST00000279386.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.39C>T
  hgvsp: ENST00000553607.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.39C>T
  hgvsp: ENST00000395224.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.39C>T
  hgvsp: ENST00000567664.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala13Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

16-30102478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102478
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102478
    reference: chr 16
allele count: 3
allele frequency: 5.639097744360902e-5
allele num: 53200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.37G>A
  hgvsp: ENSP00000461223.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.37G>A
  hgvsp: ENSP00000460425.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.37G>A
  hgvsp: ENSP00000378650.2:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.37G>A
  hgvsp: ENSP00000279386.2:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9132
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala13Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

16-30102481-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102481
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102481
    reference: chr 16
allele count: 1
allele frequency: 1.84945441094877e-5
allele num: 54070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.34G>C
  hgvsp: ENSP00000279386.2:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.34G>C
  hgvsp: ENSP00000460425.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.34G>C
  hgvsp: ENSP00000378650.2:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.34G>C
  hgvsp: ENSP00000461223.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly12Arg
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: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

16-30102485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102485
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102485
    reference: chr 16
allele count: 1
allele frequency: 1.832240096742277e-5
allele num: 54578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.30C>T
  hgvsp: ENST00000279386.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.30C>T
  hgvsp: ENST00000553607.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.30C>T
  hgvsp: ENST00000567664.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.30C>T
  hgvsp: ENST00000395224.2:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser10Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-30102489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102489
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102489
    reference: chr 16
allele count: 8
allele frequency: 1.457247987176218e-4
allele num: 54898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.26C>T
  hgvsp: ENSP00000461223.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.26C>T
  hgvsp: ENSP00000279386.2:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.26C>T
  hgvsp: ENSP00000460425.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.26C>T
  hgvsp: ENSP00000378650.2:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27318
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13806
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Pro9Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

16-30102496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102496
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102496
    reference: chr 16
allele count: 1
allele frequency: 1.803751803751804e-5
allele num: 55440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.19T>C
  hgvsp: ENST00000279386.2:c.19T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.19T>C
  hgvsp: ENST00000567664.1:c.19T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.19T>C
  hgvsp: ENST00000553607.1:c.19T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.19T>C
  hgvsp: ENST00000395224.2:c.19T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu7Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

16-30102505-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102505
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102505
    reference: chr 16
allele count: 1
allele frequency: 1.806684733514002e-5
allele num: 55350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.10C>A
  hgvsp: ENSP00000279386.2:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.10C>A
  hgvsp: ENSP00000460425.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.10C>A
  hgvsp: ENSP00000378650.2:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.10C>A
  hgvsp: ENSP00000461223.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro4Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

16-30102513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102513
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102513
    reference: chr 16
allele count: 2
allele frequency: 3.625815808556925e-5
allele num: 55160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.2T>C
  hgvsp: ENSP00000279386.2:p.Met1?
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.2T>C
  hgvsp: ENSP00000461223.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.2T>C
  hgvsp: ENSP00000460425.1:p.Met1?
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.2T>C
  hgvsp: ENSP00000378650.2:p.Met1?
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9799
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-30102524-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102524
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102524
    reference: chr 16
allele count: 2
allele frequency: 3.747844989131249e-5
allele num: 53364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-10G>T
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.-10G>T
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-10G>T
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-30102525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102525
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102525
    reference: chr 16
allele count: 2
allele frequency: 3.770028275212064e-5
allele num: 53050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.-11G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-11G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-11G>A
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

16-30102533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102533
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102533
    reference: chr 16
allele count: 2
allele frequency: 3.82394554701541e-5
allele num: 52302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000460425
  ensembl transcript: ENST00000567664
  gene symbol: TBX6
  hgvsc: ENST00000567664.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-19G>A
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23978
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12065
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

16-30102542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102542
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102542
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 50988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  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: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

16-30102550-AGGGCCCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102550
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102542
    reference: chr 16
allele count: 1
allele frequency: 2.008919603037487e-5
allele num: 49778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-44_-37delGGGGGCCC
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-44_-37delGGGGGCCC
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-44_-37delGGGGGCCC
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22674
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: AGGGCCCCC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

16-30102551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102551
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102551
    reference: chr 16
allele count: 13
allele frequency: 2.625095916966197e-4
allele num: 49522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-37C>G
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-37C>G
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-37C>G
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22740
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11892
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.75e1
  variant carriers: 13
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

16-30102554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102554
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102554
    reference: chr 16
allele count: 2
allele frequency: 4.135478268061701e-5
allele num: 48362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-40G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-40G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-40G>A
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22809
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20765
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

16-30102555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102555
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102555
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 48270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-41G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-41G>A
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-41G>A
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22917
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-30102558-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30102558
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30102558
    reference: chr 16
allele count: 1
allele frequency: 2.126121529106604e-5
allele num: 47034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000461223
  ensembl transcript: ENST00000553607
  gene symbol: TBX6
  hgvsc: ENST00000553607.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000279386
  ensembl transcript: ENST00000279386
  gene symbol: TBX6
  hgvsc: ENST00000279386.2:c.-44G>C
  variant of: http://identifiers.org/hgnc/11605
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000149922
  ensembl protein: ENSP00000378650
  ensembl transcript: ENST00000395224
  gene symbol: TBX6
  hgvsc: ENST00000395224.2:c.-44G>C
  variant of: http://identifiers.org/hgnc/11605
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4626
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11953
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

16-30103981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103981
    reference: chr 16
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*228A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*50A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.519A>G
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12295
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

16-30103982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103982
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103982
    reference: chr 16
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.518G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*72G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*49G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*49G>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

16-30103983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103983
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103983
    reference: chr 16
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.517G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*71G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*48G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*226G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*48G>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

16-30103985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103985
    reference: chr 16
allele count: 1
allele frequency: 8.349336227769892e-6
allele num: 119770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.515A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*69A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*46A>G
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17330
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

16-30103989-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103989
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103989
    reference: chr 16
allele count: 1
allele frequency: 8.352683717278361e-6
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*220C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*42C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*42C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.511C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-30103996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103996
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103996
    reference: chr 16
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*35G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*213G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*58G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*35G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.504G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*35G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*35G>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18683
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

16-30103997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103997
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103997
    reference: chr 16
allele count: 1
allele frequency: 8.342092530490349e-6
allele num: 119874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*34G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*57G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.503G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*34G>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13318
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

16-30103998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103998
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103998
    reference: chr 16
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.502C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*33C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*56C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12269
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-30103999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30103999
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30103999
    reference: chr 16
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.501C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*32C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-30104014-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104014
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104014
    reference: chr 16
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*40G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*17G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*195G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.486G>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-30104017-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104017
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104017
    reference: chr 16
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*192G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*37G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.483G>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

16-30104018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104018
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104018
    reference: chr 16
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.482C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*36C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*13C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

16-30104022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104022
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104022
    reference: chr 16
allele count: 30
allele frequency: 2.491859924247458e-4
allele num: 120392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*9C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*187C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.478C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-30104025-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104025
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104026
    reference: chr 16
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*5dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*28dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*5dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*5dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*183dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.474dupC
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*5dupC
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-30104026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104026
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104026
    reference: chr 16
allele count: 2
allele frequency: 1.660495159656609e-5
allele num: 120446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*5C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*183C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.474C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

16-30104028-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104028
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104028
    reference: chr 16
allele count: 2
allele frequency: 1.659888787451241e-5
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*26C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*181C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.472C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*3C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

16-30104030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104030
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104030
    reference: chr 16
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.*1C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.470C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.*1C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

16-30104036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104036
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104036
    reference: chr 16
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.469G>A
  hgvsp: ENSP00000381821.1:p.Asp157Asn
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.464G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.355G>A
  hgvsp: ENSP00000381818.4:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.355G>A
  hgvsp: ENSP00000456427.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.355G>A
  hgvsp: ENSP00000457976.1:p.Asp119Asn
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp157Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-30104041-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104041
    reference: chr 16
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.350G>C
  hgvsp: ENSP00000381818.4:p.Gly117Ala
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*13G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*168G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.350G>C
  hgvsp: ENSP00000456427.1:p.Gly117Ala
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.350G>C
  hgvsp: ENSP00000457976.1:p.Gly117Ala
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.464G>C
  hgvsp: ENSP00000381821.1:p.Gly155Ala
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.459G>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12279
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly155Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

16-30104043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104043
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104043
    reference: chr 16
allele count: 2
allele frequency: 1.65812731101494e-5
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.348C>T
  hgvsp: ENST00000563788.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.348C>T
  hgvsp: ENST00000398838.4:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.348C>T
  hgvsp: ENST00000566595.1:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.462C>T
  hgvsp: ENST00000398841.1:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.457C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12280
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asn154Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

16-30104043-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104043
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104042
    reference: chr 16
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*165delA
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.347delA
  hgvsp: ENSP00000457976.1:p.Asn116ThrfsTer?
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.347delA
  hgvsp: ENSP00000456427.1:p.Asn116ThrfsTer?
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.347delA
  hgvsp: ENSP00000381818.4:p.Asn116ThrfsTer?
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*10delA
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.461delA
  hgvsp: ENSP00000381821.1:p.Asn154ThrfsTer?
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.456delA
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn154ThrfsTer?
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD

16-30104046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104046
    reference: chr 16
allele count: 5
allele frequency: 4.144837190795146e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.459C>T
  hgvsp: ENST00000398841.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.345C>T
  hgvsp: ENST00000563788.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.454C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.345C>T
  hgvsp: ENST00000398838.4:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.345C>T
  hgvsp: ENST00000566595.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12279
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Asp153Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

16-30104056-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104056
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104056
    reference: chr 16
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.335T>C
  hgvsp: ENSP00000381818.4:p.Met112Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.335T>C
  hgvsp: ENSP00000456427.1:p.Met112Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.335T>C
  hgvsp: ENSP00000457976.1:p.Met112Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.444T>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.226T>C
  hgvsp: ENSP00000457598.1:p.Ter76ArgextTer?
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.449T>C
  hgvsp: ENSP00000381821.1:p.Met150Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*153T>C
  variant of: http://identifiers.org/hgnc/18327
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter76ArgextTer?
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

16-30104057-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104057
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104057
    reference: chr 16
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.443A>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.225A>C
  hgvsp: ENST00000566134.1:c.225A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.334A>C
  hgvsp: ENSP00000457976.1:p.Met112Leu
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.334A>C
  hgvsp: ENSP00000456427.1:p.Met112Leu
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*152A>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.334A>C
  hgvsp: ENSP00000381818.4:p.Met112Leu
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.448A>C
  hgvsp: ENSP00000381821.1:p.Met150Leu
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met150Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

16-30104062-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104062
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104062
    reference: chr 16
allele count: 12
allele frequency: 9.944147040787576e-5
allele num: 120674
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.329A>C
  hgvsp: ENSP00000456427.1:p.Asn110Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*147A>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.329A>C
  hgvsp: ENSP00000457976.1:p.Asn110Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.220A>C
  hgvsp: ENSP00000457598.1:p.Thr74Pro
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.443A>C
  hgvsp: ENSP00000381821.1:p.Asn148Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.329A>C
  hgvsp: ENSP00000381818.4:p.Asn110Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.438A>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn148Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/16-30104069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104069
    reference: chr 16
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.213G>T
  hgvsp: ENSP00000457598.1:p.Leu71Phe
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.322G>T
  hgvsp: ENSP00000457976.1:p.Glu108Ter
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.322G>T
  hgvsp: ENSP00000381818.4:p.Glu108Ter
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.322G>T
  hgvsp: ENSP00000456427.1:p.Glu108Ter
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*140G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.431G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.436G>T
  hgvsp: ENSP00000381821.1:p.Glu146Ter
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu146Ter
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: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-30104069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104069
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104069
    reference: chr 16
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.322G>A
  hgvsp: ENSP00000381818.4:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.431G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.213G>A
  hgvsp: ENST00000566134.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.436G>A
  hgvsp: ENSP00000381821.1:p.Glu146Lys
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.322G>A
  hgvsp: ENSP00000457976.1:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.322G>A
  hgvsp: ENSP00000456427.1:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*140G>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu146Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

16-30104071-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104071
    reference: chr 16
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.434T>C
  hgvsp: ENSP00000381821.1:p.Ile145Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.429T>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.320T>C
  hgvsp: ENSP00000456427.1:p.Ile107Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.211T>C
  hgvsp: ENST00000566134.1:c.211T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.320T>C
  hgvsp: ENSP00000457976.1:p.Ile107Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.320T>C
  hgvsp: ENSP00000381818.4:p.Ile107Thr
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*138T>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12274
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile145Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-30104082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104082
    reference: chr 16
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.418G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.309G>A
  hgvsp: ENST00000563788.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.200G>A
  hgvsp: ENSP00000457598.1:p.Gly67Glu
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*127G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.309G>A
  hgvsp: ENST00000398838.4:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.423G>A
  hgvsp: ENST00000398841.1:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.309G>A
  hgvsp: ENST00000565110.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.309G>A
  hgvsp: ENST00000566595.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18327
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly67Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

16-30104113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104113
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104113
    reference: chr 16
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*96C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.278C>T
  hgvsp: ENSP00000381818.4:p.Ala93Val
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.357C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.278C>T
  hgvsp: ENSP00000456427.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.392C>T
  hgvsp: ENSP00000381821.1:p.Ala131Val
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.169C>T
  hgvsp: ENSP00000457598.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.278C>T
  hgvsp: ENSP00000454350.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.278C>T
  hgvsp: ENSP00000457976.1:p.Ala93Val
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.387C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8425
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala131Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

16-30104126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104126
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104126
    reference: chr 16
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-6T>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-6T>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: c.385-6T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

16-30104130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104130
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104130
    reference: chr 16
allele count: 3
allele frequency: 2.489337338400518e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-10C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-10C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-30104131-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104131
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104131
    reference: chr 16
allele count: 5
allele frequency: 4.149584211661991e-5
allele num: 120494
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-11C>G
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-11C>G
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

16-30104132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104132
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104132
    reference: chr 16
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-12C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-12C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8344
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

16-30104133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104133
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104133
    reference: chr 16
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-13C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-13C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/16-30104134-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104134
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104134
    reference: chr 16
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-14G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-14G>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

16-30104137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104137
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104137
    reference: chr 16
allele count: 7
allele frequency: 5.811443562580945e-5
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-17C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-17C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20212
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-30104139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104139
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104139
    reference: chr 16
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-19G>A
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-19G>A
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

16-30104141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104141
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104141
    reference: chr 16
allele count: 14
allele frequency: 1.163022529407855e-4
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-21C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-21C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/16-30104149-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104149
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104149
    reference: chr 16
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-29G>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-29G>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-30104149-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104149
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104149
    reference: chr 16
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-29G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-29G>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12245
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

16-30104150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104150
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104150
    reference: chr 16
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-30C>T
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-30C>T
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/16-30104155-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104155
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104153
    reference: chr 16
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-37_*89-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-37_271-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-37_271-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-37_380-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-37_271-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-37_162-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-37_271-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-37_385-36delGT
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-37_350-36delGT
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12236
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7707
  bin: 6.75e1
  variant carriers: 0
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: AAC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

16-30104157-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30104157
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 30104157
    reference: chr 16
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000565479
  gene symbol: YPEL3
  hgvsc: ENST00000565479.1:n.380-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457598
  ensembl transcript: ENST00000566134
  gene symbol: YPEL3
  hgvsc: ENST00000566134.1:c.162-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381818
  ensembl transcript: ENST00000398838
  gene symbol: YPEL3
  hgvsc: ENST00000398838.4:c.271-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000457976
  ensembl transcript: ENST00000563788
  gene symbol: YPEL3
  hgvsc: ENST00000563788.1:c.271-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454949
  ensembl transcript: ENST00000570099
  gene symbol: YPEL3
  hgvsc: ENST00000570099.1:c.*89-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000381821
  ensembl transcript: ENST00000398841
  gene symbol: YPEL3
  hgvsc: ENST00000398841.1:c.385-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000454350
  ensembl transcript: ENST00000565110
  gene symbol: YPEL3
  hgvsc: ENST00000565110.1:c.271-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl transcript: ENST00000568674
  gene symbol: YPEL3
  hgvsc: ENST00000568674.1:n.350-37G>C
  variant of: http://identifiers.org/hgnc/18327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090238
  ensembl protein: ENSP00000456427
  ensembl transcript: ENST00000566595
  gene symbol: YPEL3
  hgvsc: ENST00000566595.1:c.271-37G>C
  variant of: http://identifiers.org/hgnc/18327
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 4.102564102564102e-4
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.915e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.30804e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

GenotypeQuality
all individuals: 984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.95350676049656e-5
allele num: 25294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.52291e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 6.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
all individuals: 2841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26667
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 6.402048655569782e-4
allele num: 1562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.52291e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

QD
type: SiteQuality
SIO_000300: 6.76e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 6.206040546131568e-4
allele num: 4834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.46e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.989e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 2.981e0

DP
type: SiteQuality
SIO_000300: 6.62589e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.532e0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28802
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.549719530851606e-4
allele num: 3922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27094
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.666e0

FS
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.542e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

VQSLOD
type: SiteQuality
SIO_000300: -2.352e0

DP
type: SiteQuality
SIO_000300: 6.81822e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.182e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 9.25e1
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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: 4992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 8.665511265164644e-4
allele num: 1154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.640069889341875e-5
allele num: 27472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.436e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 6.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

DP
type: SiteQuality
SIO_000300: 6.94325e5

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.699248120300752e-4
allele num: 4256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.12872e5

QD
type: SiteQuality
SIO_000300: 7.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.704e-1

FS
type: SiteQuality
SIO_000300: 6.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 1665
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 656
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.596259889714697e-4
allele num: 8342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1346
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.49e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 6.642e0

DP
type: SiteQuality
SIO_000300: 7.17185e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.468275245755138e-4
allele num: 2238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 5.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.2704e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
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variant carriers: 0

GenotypeQuality
all individuals: 30033
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.468275245755138e-4
allele num: 2238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.313e1

FS
type: SiteQuality
SIO_000300: 5.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 7.2704e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

GenotypeQuality
all individuals: 126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.443298969072165e-5
allele num: 31040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
type: SiteQuality
SIO_000300: 7.33588e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

FS
type: SiteQuality
SIO_000300: 3.178e0

QD
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.221649484536083e-5
allele num: 31040
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 7.33588e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.608e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 3.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 2317
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2366
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.206567049317001e-5
allele num: 31186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.264542235710673e-4
allele num: 7908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.281e0

DP
type: SiteQuality
SIO_000300: 7.32709e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1488
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 1.252086811352254e-3
allele num: 2396
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

FS
type: SiteQuality
SIO_000300: 1.942e0

QD
type: SiteQuality
SIO_000300: 8.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.006e0

DP
type: SiteQuality
SIO_000300: 7.35179e5

GenotypeQuality
all individuals: 12790
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.124218945263684e-5
allele num: 32008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

QD
type: SiteQuality
SIO_000300: 1.09e1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

FS
type: SiteQuality
SIO_000300: 6.3e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

DP
type: SiteQuality
SIO_000300: 7.39691e5

GenotypeQuality
all individuals: 125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.352813852813853e-4
allele num: 7392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

QD
type: SiteQuality
SIO_000300: 2.764e1

VQSLOD
type: SiteQuality
SIO_000300: -1.835e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

FS
type: SiteQuality
SIO_000300: 9.497999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.45623e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 38
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1270
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4640
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 3.108003108003108e-3
allele num: 2574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.53195e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 2.451e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13815
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 3.681885125184094e-4
allele num: 2716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.446e0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.53657e5

QD
type: SiteQuality
SIO_000300: 4.91e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.93823823235588e-5
allele num: 34034
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.38e-2

QD
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.042e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 7.51098e5

GenotypeQuality
all individuals: 345
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 1131
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.579098067287044e-4
allele num: 5588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.527e1

VQSLOD
type: SiteQuality
SIO_000300: -2.149e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 7.41206e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.62844702467344e-4
allele num: 2756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
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South Asian
type: Population
allele count: 1
allele frequency: 2.218278615794144e-4
allele num: 4508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.927e0

DP
type: SiteQuality
SIO_000300: 7.07616e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 3.654970760233918e-4
allele num: 2736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.761804087385483e-4
allele num: 5676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 1.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

DP
type: SiteQuality
SIO_000300: 7.01793e5

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.021194605009634e-5
allele num: 33216
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.72433e5

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32572
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.41137e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.130870381966187e-5
allele num: 31940
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.11301e5

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.614e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31756
num of homozygotes: 0

Latino
type: Population
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num of homozygotes: 0

African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

East Asian
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allele frequency: 2.845884413309983e-3
allele num: 4568
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 6.447037586229128e-5
allele num: 31022
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

QD
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SIO_000300: 9.890000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

DP
type: SiteQuality
SIO_000300: 6.00314e5

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQ
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SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 3246
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2344
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30986
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.99e-1

QD
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SIO_000300: 1.428e1

DP
type: SiteQuality
SIO_000300: 5.96064e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3166
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5308
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.314111486710413e-5
allele num: 30174
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 270
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

DP
type: SiteQuality
SIO_000300: 5.89383e5

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

BaseQRankSum
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SIO_000300: -1.09e0

FS
type: SiteQuality
SIO_000300: 1.5828e1

ReadPosRankSum
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.161e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66056
num of homozygotes: 0

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

South Asian
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allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.101708e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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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: 6570
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.093845216331505e-5
allele num: 16410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9670
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.596e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.056e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

VQSLOD
type: SiteQuality
SIO_000300: -5.81e-1

DP
type: SiteQuality
SIO_000300: 2.10205e6

QD
type: SiteQuality
SIO_000300: 1.647e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2892
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16422
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

DP
type: SiteQuality
SIO_000300: 2.103065e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 2.398e0

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.065e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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Other
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East Asian
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ReadPosRankSum
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SIO_000300: -2.3e-2

InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8590
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South Asian
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allele frequency: 0.0e0
allele num: 16430
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66042
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.695652173913044e-5
allele num: 11500
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

FS
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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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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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: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

East Asian
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European (Finnish)
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Latino
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Other
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African
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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FS
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
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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GenotypeQuality
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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
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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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DP
type: SiteQuality
SIO_000300: 2.118182e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5226
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

FS
type: SiteQuality
SIO_000300: 4.112e0

MQRankSum
type: SiteQuality
SIO_000300: -1.699e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.544e1

VQSLOD
type: SiteQuality
SIO_000300: -5.245e-1

DP
type: SiteQuality
SIO_000300: 2.118852e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

GenotypeQuality
all individuals: 375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20339
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 2.132104e6

QD
type: SiteQuality
SIO_000300: 1.481e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2019
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20360
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.23e1

DP
type: SiteQuality
SIO_000300: 2.134216e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12277
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 16496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: -4.645e-1

DP
type: SiteQuality
SIO_000300: 2.135371e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 2.658e0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8373
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12295
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 29
allele frequency: 2.974358974358974e-3
allele num: 9750
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 2.137825e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3822
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66468
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 7.55e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.017e0

DP
type: SiteQuality
SIO_000300: 2.138169e6

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 5252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12279
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007428348019608e-5
allele num: 66502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.727e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

DP
type: SiteQuality
SIO_000300: 2.139277e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12283
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
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: 9768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 2.13958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 6.817e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 8422
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2025
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21007
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12282
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

DP
type: SiteQuality
SIO_000300: 2.139916e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.232e1

GenotypeQuality
all individuals: 21142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12280
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 6.206e0

DP
type: SiteQuality
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MQRankSum
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SIO_000300: 9.51e-1

BaseQRankSum
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SIO_000300: -8.54e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
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: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

Other
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num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

Other
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num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
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FS
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SIO_000300: 2.611e0

MQ
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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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
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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SIO_000300: -4.1e-2

ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.142513e6

FS
type: SiteQuality
SIO_000300: 2.611e0

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.504127269998499e-5
allele num: 66630
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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MQRankSum
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SIO_000300: -7.88e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.767e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.08e-2

QD
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ClippingRankSum
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SIO_000300: 3.61e-1

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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East Asian
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allele num: 8624
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European (Non-Finnish)
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European (Finnish)
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Other
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MQ
type: SiteQuality
SIO_000300: 5.946e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 66668
num of homozygotes: 0

South Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Latino
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allele num: 11572
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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East Asian
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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African
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allele num: 9794
num of homozygotes: 0

East Asian
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South Asian
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Latino
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Other
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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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: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.141e1

DP
type: SiteQuality
SIO_000300: 2.143374e6

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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: 8624
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 1.03e0

BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.176e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 5.757e0

QD
type: SiteQuality
SIO_000300: 7.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

BaseQRankSum
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SIO_000300: -1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

DP
type: SiteQuality
SIO_000300: 2.141648e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 9786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 8.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 2.138695e6

FS
type: SiteQuality
SIO_000300: 1.907e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

GenotypeQuality
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variant carriers: 3

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

FS
type: SiteQuality
SIO_000300: 4.232e0

MQRankSum
type: SiteQuality
SIO_000300: -4.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.259e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 2.13699e6

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
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allele frequency: 5.807200929152149e-4
allele num: 8610
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South Asian
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 4.65e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11556
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

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

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

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

Latino
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allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66582
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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European (Finnish)
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 6.881e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 2.133767e6

QD
type: SiteQuality
SIO_000300: 1.563e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-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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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.415e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 2.12979e6

FS
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006795357507968e-5
allele num: 66516
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.297e0

DP
type: SiteQuality
SIO_000300: 2.123062e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.274490785645005e-4
allele num: 16496
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

FS
type: SiteQuality
SIO_000300: 1.772e0

DP
type: SiteQuality
SIO_000300: 2.120792e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.862e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 2.10393e6

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 1.808e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 1.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
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Latino
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allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Other
type: Population
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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European (Non-Finnish)
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allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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