X-38268305-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038268305
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038268305
    reference: chr 0
allele count: 11
allele frequency: 1.276813074565884e-4
allele num: 86152
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.867+27T>C
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-257070T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 623
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-38268313-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038268313
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038268313
    reference: chr 0
allele count: 1977
allele frequency: 2.302397894418112e-2
allele num: 85867
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.867+35T>G
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-257062T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 4.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 129
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  variant carriers: 9
num of homozygotes: 21
population: African
  type: Population
  allele count: 82
  allele frequency: 1.031057462592732e-2
  allele num: 7953
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-38268314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038268314
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038268314
    reference: chr 0
allele count: 1
allele frequency: 1.16517524235645e-5
allele num: 85824
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.867+36C>T
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-257061C>T
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4503
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

X-38268327-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038268327
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038268327
    reference: chr 0
allele count: 1
allele frequency: 1.176069341048348e-5
allele num: 85029
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.867+49C>A
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-257048C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9218
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-38271072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271072
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271072
    reference: chr 0
allele count: 1
allele frequency: 1.14719682455919e-5
allele num: 87169
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-43C>T
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254303C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9270
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
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site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
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site quality: ClippingRankSum

X-38271077-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271077
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271077
    reference: chr 0
allele count: 9
allele frequency: 1.03233502712747e-4
allele num: 87181
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-38A>G
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254298A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 9272
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
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site quality: FS
site quality: QD
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X-38271089-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271089
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271089
    reference: chr 0
allele count: 1
allele frequency: 1.146144941489301e-5
allele num: 87249
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254286A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-26A>G
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 9280
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population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

X-38271099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271099
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271099
    reference: chr 0
allele count: 3
allele frequency: 3.434223178716974e-5
allele num: 87356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254276A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-16A>G
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
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population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
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site quality: VQSLOD
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site quality: InbreedingCoeff
site quality: DP
site quality: FS
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X-38271102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271102
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271102
    reference: chr 0
allele count: 2
allele frequency: 2.288329519450801e-5
allele num: 87400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-13C>A
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254273C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10110
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-38271102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271102
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271102
    reference: chr 0
allele count: 3
allele frequency: 3.432494279176202e-5
allele num: 87400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-13C>T
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254273C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4520
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population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-38271107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271107
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271107
    reference: chr 0
allele count: 1
allele frequency: 1.143445200388771e-5
allele num: 87455
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254268C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.868-8C>T
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: c.868-8C>T
num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 9294
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-38271121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271121
    reference: chr 0
allele count: 1
allele frequency: 1.141865351237782e-5
allele num: 87576
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254254A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.874A>G
  hgvsp: ENSP00000039007.4:p.Lys292Glu
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Lys292Glu
num of homozygotes: 0
population: East Asian
  type: Population
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  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
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site quality: InbreedingCoeff
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site quality: FS
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site quality: QD

X-38271143-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271143
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271143
    reference: chr 0
allele count: 4
allele frequency: 4.562095826822843e-5
allele num: 87679
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254232C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.896C>T
  hgvsp: ENSP00000039007.4:p.Thr299Ile
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: Other
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  allele num: 633
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

X-38271162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271162
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271162
    reference: chr 0
allele count: 1
allele frequency: 1.140276859221419e-5
allele num: 87698
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.915C>G
  hgvsp: ENST00000039007.4:c.915C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254213C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
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  variant carriers: 0
hgvs: p.Pro305Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8505
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

X-38271162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271162
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271162
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87698
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.915C>T
  hgvsp: ENST00000039007.4:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254213C>T
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1594
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  variant carriers: 0
hgvs: p.Pro305Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10122
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-38271188-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271188
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271188
    reference: chr 0
allele count: 12
allele frequency: 1.368223020352317e-4
allele num: 87705
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254187A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.941A>C
  hgvsp: ENSP00000039007.4:p.Glu314Ala
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
hgvs: p.Glu314Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47973
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-38271199-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271199
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271199
    reference: chr 0
allele count: 1
allele frequency: 1.140328870846352e-5
allele num: 87694
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254176T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.952T>G
  hgvsp: ENSP00000039007.4:p.Ser318Ala
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3536
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  variant carriers: 0
hgvs: p.Ser318Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47966
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

X-38271204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271204
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271204
    reference: chr 0
allele count: 1
allele frequency: 1.140510948905109e-5
allele num: 87680
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.957T>C
  hgvsp: ENST00000039007.4:c.957T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254171T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro319Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10124
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-38271230-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271230
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271230
    reference: chr 0
allele count: 1
allele frequency: 1.141317994019494e-5
allele num: 87618
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.983A>G
  hgvsp: ENSP00000039007.4:p.Glu328Gly
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254145A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Glu328Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10122
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

X-38271263-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271263
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271263
    reference: chr 0
allele count: 6
allele frequency: 6.866324113385899e-5
allele num: 87383
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254112A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+11A>T
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
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  allele frequency: 0.0e0
  allele num: 4527
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

X-38271264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271264
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271264
    reference: chr 0
allele count: 1
allele frequency: 1.144570728748183e-5
allele num: 87369
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254111A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+12A>G
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
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  allele num: 6576
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-38271272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271272
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271272
    reference: chr 0
allele count: 7
allele frequency: 8.020073097237658e-5
allele num: 87281
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254103T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+20T>C
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8449
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-38271276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271276
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271276
    reference: chr 0
allele count: 2
allele frequency: 2.29244753160712e-5
allele num: 87243
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+24G>A
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254099G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6559
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-38271278-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271278
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271278
    reference: chr 0
allele count: 5
allele frequency: 5.731250214921883e-5
allele num: 87241
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254097A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+26A>G
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4524
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

X-38271282-G-GACCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271287
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87192
alternate allele: GACCAC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+30_1005+31insACCAC
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47662
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

X-38271285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271285
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271285
    reference: chr 0
allele count: 2
allele frequency: 2.294551587256061e-5
allele num: 87163
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254090C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+33C>A
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 47642
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-38271299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038271299
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038271299
    reference: chr 0
allele count: 6
allele frequency: 6.898216810954369e-5
allele num: 86979
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1005+47A>G
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-254076A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29097
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6709
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 630
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-38280233-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280233
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280233
    reference: chr 0
allele count: 15
allele frequency: 1.850937808489635e-4
allele num: 81040
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-245142G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-43G>A
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11142
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11051
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11208
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8832
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

X-38280238-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280238
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280238
    reference: chr 0
allele count: 1
allele frequency: 1.226286681300354e-5
allele num: 81547
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-245137T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-38T>C
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 390
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8175
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-38280247-A-ATTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280251
    reference: chr 0
allele count: 1
allele frequency: 1.220003172008247e-5
allele num: 81967
alternate allele: ATTTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-17_1006-14dupCTTT
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1904
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 44510
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

X-38280247-ATTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280243
    reference: chr 0
allele count: 1
allele frequency: 1.220003172008247e-5
allele num: 81967
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-17_1006-14delCTTT
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 8911
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population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: ATTTC
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site quality: VQSLOD
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X-38280262-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280262
    reference: chr 0
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    type: ExactPosition
    position: 24038280262
    reference: chr 0
allele count: 7
allele frequency: 8.31008488158129e-5
allele num: 84235
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-14T>C
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-245113T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
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  allele num: 610
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population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
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site quality: FS
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X-38280271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280271
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280271
    reference: chr 0
allele count: 1
allele frequency: 1.171056175564742e-5
allele num: 85393
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1006-5A>G
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-245104A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: c.1006-5A>G
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population: East Asian
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  allele num: 6510
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population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
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population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
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site quality: MQ
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site quality: VQSLOD
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X-38280282-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280282
    reference: chr 0
allele count: 2
allele frequency: 2.319459102137381e-5
allele num: 86227
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-245093A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.1012A>C
  hgvsp: ENSP00000039007.4:p.Met338Leu
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
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X-38280377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280377
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280377
    reference: chr 0
allele count: 11
allele frequency: 1.285542323559316e-4
allele num: 85567
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-244998A>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.*42A>G
  variant of: http://identifiers.org/hgnc/8512
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 11
  allele frequency: 1.127164668511118e-3
  allele num: 9759
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

X-38280378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038280378
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038280378
    reference: chr 0
allele count: 1
allele frequency: 1.169768502813293e-5
allele num: 85487
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000036473
  ensembl protein: ENSP00000039007
  ensembl transcript: ENST00000039007
  gene symbol: OTC
  hgvsc: ENST00000039007.4:c.*43C>G
  variant of: http://identifiers.org/hgnc/8512
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-244997C>G
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 46647
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

X-38420749-G-GCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420749
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420753
    reference: chr 0
allele count: 2
allele frequency: 8.522969402539845e-5
allele num: 23466
alternate allele: GCGCC
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-42_-39dupCGCC
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12206
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

X-38420754-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420754
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420754
    reference: chr 0
allele count: 1
allele frequency: 3.894535966039646e-5
allele num: 25677
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104621C>G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-46C>G
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1302
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

X-38420756-CCCGCCGCCTGCCGCCGCCGCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420756
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420734
    reference: chr 0
allele count: 13
allele frequency: 4.74504507792824e-4
allele num: 27397
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 7.558578987150416e-4
  allele num: 1323
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population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 175
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: CCCGCCGCCTGCCGCCGCCGCCG
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

X-38420758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420758
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420758
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 28651
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104617C>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-42C>T
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 187
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

X-38420759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420759
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420759
    reference: chr 0
allele count: 1
allele frequency: 3.360215053763441e-5
allele num: 29760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104616G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-41G>A
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 6.461617989144482e-5
  allele num: 15476
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

X-38420761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420761
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420761
    reference: chr 0
allele count: 1
allele frequency: 3.114003674524336e-5
allele num: 32113
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-39C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104614C>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 213
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

X-38420765-T-TGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420765
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420768
    reference: chr 0
allele count: 16
allele frequency: 3.821990779447245e-4
allele num: 41863
alternate allele: TGCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104590_172-104588dupCCG
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-15_-13dupCCG
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 5.736137667304016e-4
  allele num: 5230
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

X-38420765-T-TGCCGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420765
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420771
    reference: chr 0
allele count: 1
allele frequency: 2.388744237154528e-5
allele num: 41863
alternate allele: TGCCGCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-18_-13dupCCGCCG
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 2.246686137946529e-4
  allele num: 4451
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

X-38420765-TGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420765
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420762
    reference: chr 0
allele count: 12024
allele frequency: 2.872226070754604e-1
allele num: 41863
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104590_172-104588delCCG
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-15_-13delCCG
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.25e1
  variant carriers: 1056
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 1208
population: Latino
  type: Population
  allele count: 1486
  allele frequency: 3.338575600988542e-1
  allele num: 4451
  num of homozygotes: 101
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: TGCC
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
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X-38420765-TGCCGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420765
    reference: chr 0
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    type: ExactPosition
    position: 24038420759
    reference: chr 0
allele count: 46
allele frequency: 1.098822349091083e-3
allele num: 41863
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-18_-13delCCGCCG
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Non-Finnish)
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  allele num: 19983
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population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: TGCCGCC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
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site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
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site quality: DP

X-38420774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420774
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420774
    reference: chr 0
allele count: 1
allele frequency: 1.669755714738934e-5
allele num: 59889
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104601C>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5959
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
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  allele num: 5299
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population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-38420777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420777
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420777
    reference: chr 0
allele count: 1
allele frequency: 1.5803280761086e-5
allele num: 63278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104598C>T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-23C>T
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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population: East Asian
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population: South Asian
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X-38420779-C-T
type: Variant
location: Region
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    reference: chr 0
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allele count: 1
allele frequency: 1.531229424104614e-5
allele num: 65307
alternate allele: T
annotation: Annotation
  canonical: true
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  gene symbol: TM4SF2
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annotation: Annotation
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  ensembl protein: ENSP00000367743
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  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-21C>T
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
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X-38420780-C-T
type: Variant
location: Region
  begin: Position
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allele count: 1
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allele num: 66433
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annotation: Annotation
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  gene symbol: TSPAN7
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  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
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canonical: true
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X-38420781-G-A
type: Variant
location: Region
  begin: Position
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    reference: chr 0
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allele count: 1
allele frequency: 1.484847134987453e-5
allele num: 67347
alternate allele: A
annotation: Annotation
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  gene symbol: TSPAN7
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  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104594G>A
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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X-38420783-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
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    reference: chr 0
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annotation: Annotation
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  gene symbol: TSPAN7
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annotation: Annotation
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  ensembl gene: ENSG00000250349
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canonical: true
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7060
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

X-38420783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420783
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420783
    reference: chr 0
allele count: 1
allele frequency: 1.440092165898618e-5
allele num: 69440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-17C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104592C>T
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 7934
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

X-38420785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420785
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420785
    reference: chr 0
allele count: 58
allele frequency: 8.105766274422115e-4
allele num: 71554
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-15C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104590C>T
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 8094
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

X-38420786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420786
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420786
    reference: chr 0
allele count: 1
allele frequency: 1.367072687254781e-5
allele num: 73149
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-14C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104589C>G
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
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  allele num: 478
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population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
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site quality: MQ

X-38420795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420795
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420795
    reference: chr 0
allele count: 1
allele frequency: 1.251266907744091e-5
allele num: 79919
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104580G>A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-5G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-145G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

X-38420799-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420799
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420799
    reference: chr 0
allele count: 38
allele frequency: 4.675484466318056e-4
allele num: 81275
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-210T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-141T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.-1T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.-1T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.-1T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.-1T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104576T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.-1T>C
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35054
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34023
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5363
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

X-38420805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420805
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420805
    reference: chr 0
allele count: 1
allele frequency: 1.205603645745425e-5
allele num: 82946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-204A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104570A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.6A>G
  hgvsp: ENST00000471410.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.6A>G
  hgvsp: ENST00000475216.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.6A>G
  hgvsp: ENST00000480976.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.6A>G
  hgvsp: ENST00000286824.6:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.6A>G
  hgvsp: ENST00000378482.2:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-135A>G
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-38420807-CGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420807
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420804
    reference: chr 0
allele count: 1
allele frequency: 1.200076804915515e-5
allele num: 83328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-129_-127delGAG
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.12_14delGAG
  hgvsp: ENSP00000419321.1:p.Arg5del
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104564_172-104562delGAG
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.12_14delGAG
  hgvsp: ENSP00000419290.1:p.Arg5del
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.12_14delGAG
  hgvsp: ENSP00000418586.1:p.Arg5del
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-198_-196delGAG
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.12_14delGAG
  hgvsp: ENSP00000367743.2:p.Arg5del
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.12_14delGAG
  hgvsp: ENSP00000286824.6:p.Arg5del
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg5del
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: CGAG
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

X-38420808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420808
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420808
    reference: chr 0
allele count: 1
allele frequency: 1.19552872257756e-5
allele num: 83645
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-201G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.9G>A
  hgvsp: ENST00000378482.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.9G>A
  hgvsp: ENST00000480976.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.9G>A
  hgvsp: ENST00000475216.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-132G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.9G>A
  hgvsp: ENST00000286824.6:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104567G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.9G>A
  hgvsp: ENST00000471410.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser3Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-38420818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420818
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420818
    reference: chr 0
allele count: 1
allele frequency: 1.176525954162549e-5
allele num: 84996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-122G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.19G>A
  hgvsp: ENSP00000367743.2:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-191G>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.19G>A
  hgvsp: ENSP00000419321.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.19G>A
  hgvsp: ENSP00000418586.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.19G>A
  hgvsp: ENSP00000419290.1:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.19G>A
  hgvsp: ENSP00000286824.6:p.Glu7Lys
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104557G>A
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 37616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu7Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-38420818-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420818
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420818
    reference: chr 0
allele count: 1
allele frequency: 1.176525954162549e-5
allele num: 84996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.19G>C
  hgvsp: ENSP00000286824.6:p.Glu7Gln
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.19G>C
  hgvsp: ENSP00000419321.1:p.Glu7Gln
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-191G>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104557G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.19G>C
  hgvsp: ENSP00000419290.1:p.Glu7Gln
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-122G>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.19G>C
  hgvsp: ENSP00000418586.1:p.Glu7Gln
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.19G>C
  hgvsp: ENSP00000367743.2:p.Glu7Gln
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 37616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9922
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu7Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

X-38420823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420823
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420823
    reference: chr 0
allele count: 1
allele frequency: 1.171028748755782e-5
allele num: 85395
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.24C>T
  hgvsp: ENST00000480976.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.24C>T
  hgvsp: ENST00000475216.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.24C>T
  hgvsp: ENST00000471410.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-117C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.24C>T
  hgvsp: ENST00000286824.6:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-186C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.24C>T
  hgvsp: ENST00000378482.2:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104552C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr8Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

X-38420883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420883
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420883
    reference: chr 0
allele count: 1
allele frequency: 1.157715595586788e-5
allele num: 86377
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104492A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+3A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+3A>G
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 2.25e1
  variant carriers: 0
hgvs: c.81+3A>G
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

X-38420890-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420890
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420890
    reference: chr 0
allele count: 1
allele frequency: 1.159595069401765e-5
allele num: 86237
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+10C>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104485C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-38420892-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420892
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420892
    reference: chr 0
allele count: 4
allele frequency: 4.638326491801758e-5
allele num: 86238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+12C>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104483C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+12C>G
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

X-38420904-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420904
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420904
    reference: chr 0
allele count: 1
allele frequency: 1.161130011727413e-5
allele num: 86123
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+24G>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104471G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-38420911-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420911
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420911
    reference: chr 0
allele count: 11
allele frequency: 1.278921055691199e-4
allele num: 86010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+31T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104464T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28373
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

X-38420912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420912
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420912
    reference: chr 0
allele count: 1
allele frequency: 1.162993545385823e-5
allele num: 85985
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104463C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+32C>T
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+32C>T
  variant of: http://identifiers.org/hgnc/11854
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28374
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

X-38420921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420921
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420921
    reference: chr 0
allele count: 1
allele frequency: 1.164863070346081e-5
allele num: 85847
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+41T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104454T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 143
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24498
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3697
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-38420930-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038420930
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038420930
    reference: chr 0
allele count: 1
allele frequency: 1.168005980190619e-5
allele num: 85616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-60+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.81+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+50A>G
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-104445A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

X-38422214-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038422214
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038422214
    reference: chr 0
allele count: 456
allele frequency: 8.623298033282904e-2
allele num: 5288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+1334T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-103161T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+1334T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-54T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+1334T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.87T>A
  hgvsp: ENSP00000419290.1:p.Tyr29Ter
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+1334T>A
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+1334T>A
  variant of: http://identifiers.org/hgnc/11854
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 7.5e0
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.5e0
  variant carriers: 11
hgvs: p.Tyr29Ter
num of homozygotes: 33
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-38422216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038422216
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038422216
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5373
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-52T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+1336T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-103159T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+1336T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.89T>C
  hgvsp: ENSP00000419290.1:p.Phe30Ser
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+1336T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+1336T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+1336T>C
  variant of: http://identifiers.org/hgnc/11854
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe30Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

X-38422217-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038422217
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038422217
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+1337T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-51T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+1337T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.90T>C
  hgvsp: ENST00000471410.1:c.90T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-103158T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+1337T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+1337T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+1337T>C
  variant of: http://identifiers.org/hgnc/11854
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe30Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

X-38422218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038422218
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038422218
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5431
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-103157T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+1338T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+1338T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-50T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.91T>C
  hgvsp: ENSP00000419290.1:p.Cys31Arg
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+1338T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+1338T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+1338T>C
  variant of: http://identifiers.org/hgnc/11854
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys31Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

X-38422244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038422244
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038422244
    reference: chr 0
allele count: 1
allele frequency: 1.439055979277594e-4
allele num: 6949
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000388954
  ensembl transcript: ENST00000422612
  gene symbol: TSPAN7
  hgvsc: ENST00000422612.2:c.-24T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419290
  ensembl transcript: ENST00000471410
  gene symbol: TSPAN7
  hgvsc: ENST00000471410.1:c.117T>C
  hgvsp: ENST00000471410.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000419321
  ensembl transcript: ENST00000480976
  gene symbol: TSPAN7
  hgvsc: ENST00000480976.1:c.81+1364T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-103131T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000367743
  ensembl transcript: ENST00000378482
  gene symbol: TSPAN7
  hgvsc: ENST00000378482.2:c.81+1364T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000441540
  ensembl transcript: ENST00000545599
  gene symbol: TSPAN7
  hgvsc: ENST00000545599.1:c.-129+1364T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000418586
  ensembl transcript: ENST00000475216
  gene symbol: TSPAN7
  hgvsc: ENST00000475216.1:c.81+1364T>C
  variant of: http://identifiers.org/hgnc/11854
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156298
  ensembl protein: ENSP00000286824
  ensembl transcript: ENST00000286824
  gene symbol: TSPAN7
  hgvsc: ENST00000286824.6:c.81+1364T>C
  variant of: http://identifiers.org/hgnc/11854
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys39Cys
num of homozygotes: 0
reference allele: T

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47298
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.376720901126408e-3
allele num: 7990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4507
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9959
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.33e-2

DP
type: SiteQuality
SIO_000300: 1.577919e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.591e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

European (Finnish)
type: Population
allele count: 92
allele frequency: 2.045353490440196e-2
allele num: 4498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1596
allele frequency: 3.387312435002229e-2
allele num: 47117
num of homozygotes: 19

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6509
num of homozygotes: 0

Latino
type: Population
allele count: 143
allele frequency: 1.547954102619615e-2
allele num: 9238
num of homozygotes: 2

Other
type: Population
allele count: 12
allele frequency: 1.926163723916533e-2
allele num: 623
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 5.237184006445765e-3
allele num: 9929
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.590905e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 2.004e1

VQSLOD
type: SiteQuality
SIO_000300: 3.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.013e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

South Asian
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6501
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7939
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9247
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47099
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.09e0

VQSLOD
type: SiteQuality
SIO_000300: -2.857e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 3.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.128e1

DP
type: SiteQuality
SIO_000300: 1.563727e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9809
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4491
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7847
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.557632398753894e-4
allele num: 6420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46626
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.534252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.179e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6539
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.185536455245999e-4
allele num: 8435
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.78e-2

QD
type: SiteQuality
SIO_000300: 2.281e1

VQSLOD
type: SiteQuality
SIO_000300: -2.299e-1

DP
type: SiteQuality
SIO_000300: 3.011567e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6545
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.887544304859378e-4
allele num: 47681
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.333e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 3.012429e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 7.46e-1

QD
type: SiteQuality
SIO_000300: 2.003e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.095733087433984e-5
allele num: 47716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10107
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.01e1

DP
type: SiteQuality
SIO_000300: 3.01467e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.194e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.967359050445104e-4
allele num: 10110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9285
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6571
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

QD
type: SiteQuality
SIO_000300: 2.53e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 3.017139e6

FS
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.363507445048452e-4
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47807
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6581
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 3.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.97e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.285e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 3.018036e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.392e1

South Asian
type: Population
allele count: 3
allele frequency: 2.967359050445104e-4
allele num: 10110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6581
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47807
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.392e1

FS
type: SiteQuality
SIO_000300: 3.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.97e-2

DP
type: SiteQuality
SIO_000300: 3.018036e6

VQSLOD
type: SiteQuality
SIO_000300: -1.285e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10109
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47833
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.897e0

DP
type: SiteQuality
SIO_000300: 3.018684e6

South Asian
type: Population
allele count: 1
allele frequency: 9.885330170027679e-5
allele num: 10116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8487
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9306
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47905
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MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: -7.881e-1

DP
type: SiteQuality
SIO_000300: 3.020778e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.034e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

QD
type: SiteQuality
SIO_000300: 1.664e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8499
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47961
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.952959778634253e-4
allele num: 10119
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 1.695e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 3.022731e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.507e0

QD
type: SiteQuality
SIO_000300: 2.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.052e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084418968212611e-5
allele num: 47975
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
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MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.162e0

QD
type: SiteQuality
SIO_000300: 1.304e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 3.022909e6

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6619
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47975
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.162e0

DP
type: SiteQuality
SIO_000300: 3.022909e6

QD
type: SiteQuality
SIO_000300: 1.304e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6621
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.410437235543018e-3
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 3.023385e6

FS
type: SiteQuality
SIO_000300: 1.906e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 2.119e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.272e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8507
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South Asian
type: Population
allele count: 1
allele frequency: 9.877518767285657e-5
allele num: 10124
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.041e-1

DP
type: SiteQuality
SIO_000300: 3.021751e6

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.087e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.085157846448976e-5
allele num: 47958
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.021472e6

VQSLOD
type: SiteQuality
SIO_000300: -3.117e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

FS
type: SiteQuality
SIO_000300: 3.215e0

MQRankSum
type: SiteQuality
SIO_000300: -1.177e0

QD
type: SiteQuality
SIO_000300: 1.453e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47923
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.208480565371025e-4
allele num: 4528
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.890000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.016449e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.073e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.255729264770516e-4
allele num: 47781
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 630
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.445e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

DP
type: SiteQuality
SIO_000300: 2.997783e6

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.362e0

QD
type: SiteQuality
SIO_000300: 1.73e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10107
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47768
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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Latino
type: Population
allele count: 1
allele frequency: 1.07469102632993e-4
allele num: 9305
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.261e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.806e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.013e0

QD
type: SiteQuality
SIO_000300: 1.553e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.467136150234742e-4
allele num: 47712
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9302
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4525
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 630
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DP
type: SiteQuality
SIO_000300: 2.984151e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

QD
type: SiteQuality
SIO_000300: 1.775e1

VQSLOD
type: SiteQuality
SIO_000300: -9.195e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4525
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.193487513890927e-5
allele num: 47693
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 630
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MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 3.612e0

QD
type: SiteQuality
SIO_000300: 2.687e1

DP
type: SiteQuality
SIO_000300: 2.976309e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.071e0

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

African
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: 630
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South Asian
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6555
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.048481798355981e-4
allele num: 47688
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MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 1.721e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
type: SiteQuality
SIO_000300: 2.168e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 2.971725e6

VQSLOD
type: SiteQuality
SIO_000300: -3.898e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 6551
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Other
type: Population
allele count: 0
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allele num: 630
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 3.782e1

FS
type: SiteQuality
SIO_000300: 3.605e0

QD
type: SiteQuality
SIO_000300: 5.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.962235e6

African
type: Population
allele count: 2
allele frequency: 2.371354043158644e-4
allele num: 8434
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4524
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

FS
type: SiteQuality
SIO_000300: 7.47e-1

MQ
type: SiteQuality
SIO_000300: 3.732e1

DP
type: SiteQuality
SIO_000300: 2.957234e6

VQSLOD
type: SiteQuality
SIO_000300: -4.254e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.393e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10081
num of homozygotes: 0

Latino
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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
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allele num: 6521
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.262599692767408e-4
allele num: 47521
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4521
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.888e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 2.929268e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4272
num of homozygotes: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.957637530145152e-4
allele num: 43954
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East Asian
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

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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South Asian
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Latino
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Other
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MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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African
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Latino
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European (Finnish)
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South Asian
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allele num: 9207
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Other
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East Asian
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

South Asian
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European (Finnish)
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allele num: 4320
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Other
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East Asian
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European (Non-Finnish)
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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South Asian
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allele frequency: 1.056859015007398e-4
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Latino
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African
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European (Non-Finnish)
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allele count: 6
allele frequency: 1.305596657672556e-4
allele num: 45956
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.079e-1

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.881e1

VQSLOD
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SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.869169e6

European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4472
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 4.239623521431297e-5
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Other
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VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

European (Non-Finnish)
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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East Asian
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.525e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

European (Finnish)
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African
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South Asian
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Latino
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East Asian
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Other
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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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QD
type: SiteQuality
SIO_000300: 1.679e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

European (Finnish)
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allele num: 1200
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East Asian
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South Asian
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Other
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African
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Latino
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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ReadPosRankSum
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MQRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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VQSLOD
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South Asian
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European (Non-Finnish)
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Latino
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African
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East Asian
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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South Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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East Asian
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South Asian
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Other
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African
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European (Finnish)
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Latino
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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MQ
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QD
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ClippingRankSum
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European (Non-Finnish)
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Latino
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Other
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European (Finnish)
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East Asian
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South Asian
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19983
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6117
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 2.772e1

MQ
type: SiteQuality
SIO_000300: 5.852e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.337e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 8.84357e5

European (Finnish)
type: Population
allele count: 180
allele frequency: 1.136363636363636e-1
allele num: 1584
num of homozygotes: 5

South Asian
type: Population
allele count: 1983
allele frequency: 3.241785188818048e-1
allele num: 6117
num of homozygotes: 117

African
type: Population
allele count: 3254
allele frequency: 6.221797323135755e-1
allele num: 5230
num of homozygotes: 741

East Asian
type: Population
allele count: 1448
allele frequency: 3.415094339622641e-1
allele num: 4240
num of homozygotes: 117

Other
type: Population
allele count: 58
allele frequency: 2.248062015503876e-1
allele num: 258
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 3615
allele frequency: 1.809037682029725e-1
allele num: 19983
num of homozygotes: 124

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

DP
type: SiteQuality
SIO_000300: 8.84357e5

MQ
type: SiteQuality
SIO_000300: 5.852e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.337e-1

QD
type: SiteQuality
SIO_000300: 2.772e1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

Latino
type: Population
allele count: 1
allele frequency: 2.246686137946529e-4
allele num: 4451
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.147227533460803e-3
allele num: 5230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.358490566037736e-4
allele num: 4240
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 4.740886055255845e-3
allele num: 6117
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.337e-1

QD
type: SiteQuality
SIO_000300: 2.772e1

MQ
type: SiteQuality
SIO_000300: 5.852e1

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 8.84357e5

South Asian
type: Population
allele count: 1
allele frequency: 1.299207483435105e-4
allele num: 7697
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7023
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30860
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2257
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 383
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.135e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 4.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

QD
type: SiteQuality
SIO_000300: 1.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

DP
type: SiteQuality
SIO_000300: 1.068926e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33081
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2447
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7911
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7361
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 405
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.124149e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

FS
type: SiteQuality
SIO_000300: 7.376e0

VQSLOD
type: SiteQuality
SIO_000300: -1.435e-1

QD
type: SiteQuality
SIO_000300: 1.072e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6775
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2583
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7549
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5547
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

DP
type: SiteQuality
SIO_000300: 1.158494e6

QD
type: SiteQuality
SIO_000300: 2.478e1

VQSLOD
type: SiteQuality
SIO_000300: -2.954e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.994e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7667
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.847056143947159e-5
allele num: 35124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8075
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5602
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.177522e6

QD
type: SiteQuality
SIO_000300: 2.448e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.853e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.453e0

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2747
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7753
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5631
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 433
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.773e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 1.194797e6

FS
type: SiteQuality
SIO_000300: 1.722e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.389673385792821e-5
allele num: 37108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5711
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8255
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

DP
type: SiteQuality
SIO_000300: 1.227285e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 2.153e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8255
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.69483669289641e-5
allele num: 37108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5711
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 2.153e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.427e0

DP
type: SiteQuality
SIO_000300: 1.227285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

African
type: Population
allele count: 58
allele frequency: 8.080245193647256e-3
allele num: 7178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5793
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3091
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.265236e6

South Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7325
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.291106e6

VQSLOD
type: SiteQuality
SIO_000300: -2.261e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 2.541e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.806e1

GenotypeQuality
all individuals: 2221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.28201090801214e-5
allele num: 43821
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7841
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6263
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 2.817e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.392171e6

GenotypeQuality
all individuals: 3698
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 458
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6420
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1894
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3945
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 8.515978665232396e-4
allele num: 44622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

DP
type: SiteQuality
SIO_000300: 1.415584e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.520000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.764e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

GenotypeQuality
all individuals: 357
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8051
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

South Asian
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allele frequency: 1.080964220084315e-4
allele num: 9251
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: -5.127e0

DP
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InbreedingCoeff
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SIO_000300: 5.4e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8989
num of homozygotes: 0

African
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allele frequency: 1.237623762376238e-4
allele num: 8080
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4172
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

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.444e-1

ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.881e1

BaseQRankSum
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SIO_000300: -1.375e0

QD
type: SiteQuality
SIO_000300: 3.444e1

DP
type: SiteQuality
SIO_000300: 1.449431e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9031
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6451
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45922
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4203
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.455224e6

FS
type: SiteQuality
SIO_000300: 4.005e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

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

African
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allele count: 1
allele frequency: 1.216249087813184e-4
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9145
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4327
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -5.452e0

MQ
type: SiteQuality
SIO_000300: 5.807e1

QD
type: SiteQuality
SIO_000300: 3.091e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.478024e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9145
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46620
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.530924678505818e-4
allele num: 6532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4327
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.478024e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

MQ
type: SiteQuality
SIO_000300: 5.807e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.223e0

VQSLOD
type: SiteQuality
SIO_000300: -5.452e0

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 3.091e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.135428900894745e-5
allele num: 46829
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6547
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4369
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
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VQSLOD
type: SiteQuality
SIO_000300: -5.318000000000001e-1

ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.678e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8397
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4461
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
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.112021627101461e-5
allele num: 47348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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GenotypeQuality
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Other
type: Population
allele count: 0
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allele num: 612
num of homozygotes: 0

African
type: Population
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allele frequency: 1.192037191560377e-4
allele num: 8389
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.876e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 611
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4448
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Latino
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allele frequency: 2.168491813943402e-4
allele num: 9223
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.230386868879159e-5
allele num: 47277
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

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

East Asian
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allele frequency: 1.520450053215752e-4
allele num: 6577
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9701
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4440
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -7.51e-1

MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.134e0

DP
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SIO_000300: 1.457142e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

BaseQRankSum
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SIO_000300: 1.2e-1

MQ
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SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -7.0e-4

QD
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SIO_000300: 6.85e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 8367
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 6.3618627534142e-5
allele num: 47156
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

Latino
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allele count: 8
allele frequency: 8.683382177358081e-4
allele num: 9213
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 1.433979e6

ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 2.639e0

MQ
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SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-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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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6567
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8367
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47137
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9207
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

South Asian
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allele frequency: 1.034875297526648e-4
allele num: 9663
num of homozygotes: 0

VQSLOD
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SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 2.08e-2

DP
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FS
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QD
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SIO_000300: 3.019e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47065
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9195
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 1.039176971838304e-4
allele num: 9623
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QD
type: SiteQuality
SIO_000300: 9.57e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ReadPosRankSum
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DP
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SIO_000300: 1.418099e6

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.269e-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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African
type: Population
allele count: 1
allele frequency: 1.198035222235534e-4
allele num: 8347
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9169
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4418
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.38e0

InbreedingCoeff
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SIO_000300: -9.0e-4

ClippingRankSum
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SIO_000300: -1.775e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 3.685e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.419522e6

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 241

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 225
allele frequency: 9.62360992301112e-2
allele num: 2338
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Other
type: Population
allele count: 5
allele frequency: 7.8125e-2
allele num: 64
num of homozygotes: 0

African
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allele count: 158
allele frequency: 3.526785714285715e-1
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East Asian
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allele frequency: 1.946308724832215e-1
allele num: 149
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Latino
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allele count: 7
allele frequency: 6.481481481481481e-2
allele num: 108
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European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 1.467216872994039e-2
allele num: 2181
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
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QD
type: SiteQuality
SIO_000300: 1.962e1

BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 9.1332e4

VQSLOD
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FS
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
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African
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QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: NaN
allele num: 0
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VQSLOD
type: SiteQuality
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FS
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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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