X-38080026-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080026
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080026
    reference: chr 0
allele count: 1
allele frequency: 2.504382669671926e-4
allele num: 3993
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000411165
  ensembl transcript: ENST00000432886
  gene symbol: SRPX
  hgvsc: ENST00000432886.2:c.20G>T
  hgvsp: ENSP00000411165.2:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000440758
  ensembl transcript: ENST00000544439
  gene symbol: SRPX
  hgvsc: ENST00000544439.1:c.20G>T
  hgvsp: ENSP00000440758.1:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000445034
  ensembl transcript: ENST00000538295
  gene symbol: SRPX
  hgvsc: ENST00000538295.1:c.20G>T
  hgvsp: ENSP00000445034.1:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-445349C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000367794
  ensembl transcript: ENST00000378533
  gene symbol: SRPX
  hgvsc: ENST00000378533.3:c.20G>T
  hgvsp: ENSP00000367794.3:p.Arg7Leu
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+553G>T
  variant of: http://identifiers.org/hgnc/11309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 851
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg7Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

X-38080031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080031
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080031
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 3431
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000440758
  ensembl transcript: ENST00000544439
  gene symbol: SRPX
  hgvsc: ENST00000544439.1:c.15A>G
  hgvsp: ENST00000544439.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-445344T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000367794
  ensembl transcript: ENST00000378533
  gene symbol: SRPX
  hgvsc: ENST00000378533.3:c.15A>G
  hgvsp: ENST00000378533.3:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+548A>G
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000445034
  ensembl transcript: ENST00000538295
  gene symbol: SRPX
  hgvsc: ENST00000538295.1:c.15A>G
  hgvsp: ENST00000538295.1:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000411165
  ensembl transcript: ENST00000432886
  gene symbol: SRPX
  hgvsc: ENST00000432886.2:c.15A>G
  hgvsp: ENST00000432886.2:c.15A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 253
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  variant carriers: 0
hgvs: p.Ala5Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

X-38080038-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080038
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080038
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 2540
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.172-445337C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000445034
  ensembl transcript: ENST00000538295
  gene symbol: SRPX
  hgvsc: ENST00000538295.1:c.8G>A
  hgvsp: ENSP00000445034.1:p.Ser3Asn
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000411165
  ensembl transcript: ENST00000432886
  gene symbol: SRPX
  hgvsc: ENST00000432886.2:c.8G>A
  hgvsp: ENSP00000411165.2:p.Ser3Asn
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+541G>A
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000367794
  ensembl transcript: ENST00000378533
  gene symbol: SRPX
  hgvsc: ENST00000378533.3:c.8G>A
  hgvsp: ENSP00000367794.3:p.Ser3Asn
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000440758
  ensembl transcript: ENST00000544439
  gene symbol: SRPX
  hgvsc: ENST00000544439.1:c.8G>A
  hgvsp: ENSP00000440758.1:p.Ser3Asn
  variant of: http://identifiers.org/hgnc/11309
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Ser3Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-38080051-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080051
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080051
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 1456
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000367794
  ensembl transcript: ENST00000378533
  gene symbol: SRPX
  hgvsc: ENST00000378533.3:c.-6C>G
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-445324G>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000445034
  ensembl transcript: ENST00000538295
  gene symbol: SRPX
  hgvsc: ENST00000538295.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+528C>G
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000411165
  ensembl transcript: ENST00000432886
  gene symbol: SRPX
  hgvsc: ENST00000432886.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000440758
  ensembl transcript: ENST00000544439
  gene symbol: SRPX
  hgvsc: ENST00000544439.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/11309
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  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 (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

X-38080529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080529
    reference: chr 0
allele count: 1
allele frequency: 4.024954719259409e-5
allele num: 24845
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+50G>A
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444846C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  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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num of homozygotes: 0
population: African
  type: Population
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  allele frequency: 0.0e0
  allele num: 2415
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
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site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
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site quality: ClippingRankSum

X-38080549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080549
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080549
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 26454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+30G>A
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444826C>T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
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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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 2717
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

X-38080554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080554
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080554
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 27904
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.172-444821G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.118+25C>T
  variant of: http://identifiers.org/hgnc/11309
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Latino
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  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
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site quality: DP
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site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-38080581-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080581
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080581
    reference: chr 0
allele count: 4
allele frequency: 9.094422845190187e-5
allele num: 43983
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.172-444794T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.116A>G
  hgvsp: ENSP00000339211.6:p.His39Arg
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.His39Arg
num of homozygotes: 0
population: Other
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  allele num: 318
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
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site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

X-38080605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080605
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080605
    reference: chr 0
allele count: 1
allele frequency: 1.824817518248175e-5
allele num: 54800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.92G>A
  hgvsp: ENSP00000339211.6:p.Arg31Gln
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444770C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
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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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hgvs: p.Arg31Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.495662578522285e-4
  allele num: 6686
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
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site quality: BaseQRankSum
site quality: MQ
site quality: FS
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X-38080611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080611
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080611
    reference: chr 0
allele count: 1
allele frequency: 1.747946163258172e-5
allele num: 57210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.86A>G
  hgvsp: ENSP00000339211.6:p.Lys29Arg
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444764T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Lys29Arg
num of homozygotes: 0
population: South Asian
  type: Population
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  allele frequency: 0.0e0
  allele num: 6529
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
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site quality: InbreedingCoeff
site quality: DP
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site quality: MQ
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X-38080620-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080620
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080620
    reference: chr 0
allele count: 3
allele frequency: 5.080526342529086e-5
allele num: 59049
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.172-444755T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.77A>T
  hgvsp: ENSP00000339211.6:p.Gln26Leu
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.Gln26Leu
num of homozygotes: 0
population: East Asian
  type: Population
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  allele num: 4949
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population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
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site quality: MQ

X-38080622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080622
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080622
    reference: chr 0
allele count: 18
allele frequency: 3.042030724510317e-4
allele num: 59171
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.172-444753C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.75G>A
  hgvsp: ENST00000343800.6:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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hgvs: p.Gly25Gly
num of homozygotes: 0
population: African
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  allele frequency: 3.313840155945419e-3
  allele num: 5130
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
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site quality: DP
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X-38080632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080632
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080632
    reference: chr 0
allele count: 1
allele frequency: 1.660770929865644e-5
allele num: 60213
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.172-444743C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.65G>A
  hgvsp: ENSP00000339211.6:p.Gly22Asp
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: missense
filter: PASS
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 quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly22Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3161
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

X-38080641-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080641
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080641
    reference: chr 0
allele count: 1
allele frequency: 1.669699954918101e-5
allele num: 59891
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.172-444734C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.56G>C
  hgvsp: ENSP00000339211.6:p.Ser19Thr
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  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 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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser19Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6930
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

X-38080658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080658
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080658
    reference: chr 0
allele count: 10
allele frequency: 1.709460152483846e-4
allele num: 58498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.15G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444717G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.39C>G
  hgvsp: ENST00000343800.6:c.39C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.25e1
  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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  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 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 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 533
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser13Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-38080667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080667
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080667
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 57324
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.172-444708G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.24G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.30C>T
  hgvsp: ENST00000343800.6:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11309
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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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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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 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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1575
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His10His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

X-38080687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080687
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080687
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 52121
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.44C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101955
  ensembl protein: ENSP00000339211
  ensembl transcript: ENST00000343800
  gene symbol: SRPX
  hgvsc: ENST00000343800.6:c.10G>C
  hgvsp: ENSP00000339211.6:p.Asp4His
  variant of: http://identifiers.org/hgnc/11309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444688C>G
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
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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
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp4His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

X-38080697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080697
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080697
    reference: chr 0
allele count: 3
allele frequency: 6.245055997335443e-5
allele num: 48038
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.54A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444678A>G
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12034
  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
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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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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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
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1918
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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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
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3858
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

X-38080698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080698
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080698
    reference: chr 0
allele count: 1
allele frequency: 2.098151528503388e-5
allele num: 47661
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.55C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444677C>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
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  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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  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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1926
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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
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1096
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3821
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

X-38080703-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080703
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080703
    reference: chr 0
allele count: 16930
allele frequency: 3.678036063436889e-1
allele num: 46030
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.60G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444672G>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 248
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 1.25e1
  variant carriers: 5188
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
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  variant carriers: 5423
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 978
genotype depth: GenotypeDepth
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  variant carriers: 101
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
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  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.75e1
  variant carriers: 3746
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 2127
genotype depth: GenotypeDepth
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  variant carriers: 292
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1073
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 622
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
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  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 2.5e0
  variant carriers: 144
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 192
genotype quality: GenotypeQuality
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  variant carriers: 506
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 255
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 196
genotype quality: GenotypeQuality
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  variant carriers: 432
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 8999
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 1471
genotype quality: GenotypeQuality
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  variant carriers: 257
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1831
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 993
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 614
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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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: 18146
  bin: 2.25e1
  variant carriers: 2069
num of homozygotes: 2298
population: European (Finnish)
  type: Population
  allele count: 1214
  allele frequency: 4.274647887323944e-1
  allele num: 2840
  num of homozygotes: 160
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

X-38080704-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080704
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080705
    reference: chr 0
allele count: 3
allele frequency: 7.876082961407194e-5
allele num: 38090
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444665dupT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.67dupT
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.75e1
  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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  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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  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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2488
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

X-38080711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080711
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080711
    reference: chr 0
allele count: 1
allele frequency: 2.924147610971402e-5
allele num: 34198
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.172-444664G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.68G>T
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 17311
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 23725
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 3.095975232198143e-4
  allele num: 3230
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

X-38080713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080713
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080713
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 33784
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.70T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444662T>C
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18241
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  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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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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
  all individuals: 239
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 80
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 259
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3025
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

X-38080739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038080739
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038080739
    reference: chr 0
allele count: 143
allele frequency: 6.909547738693468e-3
allele num: 20696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000226679
  ensembl transcript: ENST00000423919
  gene symbol: RP13-43E11.1
  hgvsc: ENST00000423919.1:n.96T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-444636T>C
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18234
  bin: 7.5e0
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2848
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genotype depth: GenotypeDepth
  all individuals: 89
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  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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  variant carriers: 73
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
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  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 1.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 5589
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 221
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8520
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 247
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genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 9
num of homozygotes: 6
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4894
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

X-38128831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128831
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128831
    reference: chr 0
allele count: 1
allele frequency: 1.371403494336104e-5
allele num: 72918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.812T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*594T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*961T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*628T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396544A>G
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16095
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-38128833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128833
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128833
    reference: chr 0
allele count: 1
allele frequency: 1.369169051302764e-5
allele num: 73037
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*626A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*592A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*46A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396542T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*959A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*46A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*46A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.810A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

X-38128835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128835
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128835
    reference: chr 0
allele count: 1
allele frequency: 1.365691107985196e-5
allele num: 73223
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396540T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*590A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.808A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*624A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*957A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*44A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*44A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-38128836-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128836
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128836
    reference: chr 0
allele count: 1
allele frequency: 1.365597858742557e-5
allele num: 73228
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.172-396539A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*956T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*623T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.807T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*589T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*43T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*43T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*43T>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

X-38128837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128837
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128837
    reference: chr 0
allele count: 1
allele frequency: 1.367371774711826e-5
allele num: 73133
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*622G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396538C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*42G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*42G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.806G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*42G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*588G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*955G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20409
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

X-38128842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128842
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128842
    reference: chr 0
allele count: 1
allele frequency: 1.362082351498972e-5
allele num: 73417
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*617G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*583G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*37G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*37G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*950G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396533C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.801G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*37G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9283
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-38128843-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128843
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128843
    reference: chr 0
allele count: 3
allele frequency: 4.073098541830722e-5
allele num: 73654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*949T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396532A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*36T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*36T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.800T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*616T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*36T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*582T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-38128847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128847
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128847
    reference: chr 0
allele count: 1
allele frequency: 1.352155335604954e-5
allele num: 73956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.796G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*612G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.*32G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396528C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.*32G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*578G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.*32G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*945G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4605
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

X-38128882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128882
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128882
    reference: chr 0
allele count: 8
allele frequency: 9.46857616285951e-5
allele num: 84490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*910A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396493T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*577A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.761A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.3060A>G
  hgvsp: ENST00000339363.3:c.3060A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*543A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2259A>G
  hgvsp: ENST00000309513.3:c.2259A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2445A>G
  hgvsp: ENST00000318842.7:c.2445A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu815Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

X-38128885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128885
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128885
    reference: chr 0
allele count: 1
allele frequency: 1.169289773391642e-5
allele num: 85522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*907A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396490T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.3057A>G
  hgvsp: ENSP00000343671.3:p.Ile1019Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2442A>G
  hgvsp: ENSP00000322219.6:p.Ile814Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2256A>G
  hgvsp: ENSP00000308783.3:p.Ile752Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*540A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*574A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.758A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48021
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile814Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

X-38128887-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128887
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128887
    reference: chr 0
allele count: 1
allele frequency: 1.16266902300922e-5
allele num: 86009
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2254A>G
  hgvsp: ENSP00000308783.3:p.Ile752Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2440A>G
  hgvsp: ENSP00000322219.6:p.Ile814Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.756A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396488T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*572A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.3055A>G
  hgvsp: ENSP00000343671.3:p.Ile1019Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*905A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*538A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile814Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

X-38128892-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128892
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128892
    reference: chr 0
allele count: 2
allele frequency: 2.303855502182903e-5
allele num: 86811
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*567G>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2435G>C
  hgvsp: ENSP00000322219.6:p.Cys812Ser
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*900G>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.3050G>C
  hgvsp: ENSP00000343671.3:p.Cys1017Ser
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2249G>C
  hgvsp: ENSP00000308783.3:p.Cys750Ser
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396483C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.751G>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*533G>C
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49501
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys812Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

X-38128930-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128930
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128930
    reference: chr 0
allele count: 1
allele frequency: 1.141591607018505e-5
allele num: 87597
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.172-396445A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*862T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*495T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.3012T>A
  hgvsp: ENSP00000343671.3:p.Asn1004Lys
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2211T>A
  hgvsp: ENSP00000308783.3:p.Asn737Lys
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.713T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*529T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2397T>A
  hgvsp: ENSP00000322219.6:p.Asn799Lys
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50309
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn799Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

X-38128943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128943
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128943
    reference: chr 0
allele count: 1
allele frequency: 1.141422212076247e-5
allele num: 87610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*516A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*482A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2384A>G
  hgvsp: ENSP00000322219.6:p.Gln795Arg
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2198A>G
  hgvsp: ENSP00000308783.3:p.Gln733Arg
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*849A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.700A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396432T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2999A>G
  hgvsp: ENSP00000343671.3:p.Gln1000Arg
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln795Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

X-38128962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128962
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128962
    reference: chr 0
allele count: 22
allele frequency: 2.512390653906768e-4
allele num: 87566
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.172-396413C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2365G>A
  hgvsp: ENSP00000322219.6:p.Asp789Asn
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*463G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2179G>A
  hgvsp: ENSP00000308783.3:p.Asp727Asn
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*830G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2980G>A
  hgvsp: ENSP00000343671.3:p.Asp994Asn
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*497G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.681G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp789Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-38128982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038128982
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038128982
    reference: chr 0
allele count: 1
allele frequency: 1.14476726881425e-5
allele num: 87354
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.172-396393T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.661A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*810A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2960A>G
  hgvsp: ENSP00000343671.3:p.Lys987Arg
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2159A>G
  hgvsp: ENSP00000308783.3:p.Lys720Arg
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*443A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2345A>G
  hgvsp: ENSP00000322219.6:p.Lys782Arg
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*477A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys782Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

X-38129002-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129002
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129002
    reference: chr 0
allele count: 2
allele frequency: 2.306884897978015e-5
allele num: 86697
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2139A>C
  hgvsp: ENST00000309513.3:c.2139A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2325A>C
  hgvsp: ENST00000318842.7:c.2325A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*790A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2940A>C
  hgvsp: ENST00000339363.3:c.2940A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*423A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.641A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*457A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396373T>G
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile775Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

X-38129003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129003
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129003
    reference: chr 0
allele count: 28
allele frequency: 3.229527104959631e-4
allele num: 86700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.640T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2939T>C
  hgvsp: ENSP00000343671.3:p.Ile980Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*789T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*456T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396372A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2138T>C
  hgvsp: ENSP00000308783.3:p.Ile713Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2324T>C
  hgvsp: ENSP00000322219.6:p.Ile775Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*422T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile775Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

X-38129004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129004
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129004
    reference: chr 0
allele count: 14
allele frequency: 1.614912564019748e-4
allele num: 86692
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*421A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*788A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*455A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.639A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2938A>G
  hgvsp: ENSP00000343671.3:p.Ile980Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396371T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2323A>G
  hgvsp: ENSP00000322219.6:p.Ile775Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2137A>G
  hgvsp: ENSP00000308783.3:p.Ile713Val
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile775Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

X-38129011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129011
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129011
    reference: chr 0
allele count: 1
allele frequency: 1.160146642535617e-5
allele num: 86196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2931A>G
  hgvsp: ENSP00000343671.3:p.Ile977Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*448A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2130A>G
  hgvsp: ENSP00000308783.3:p.Ile710Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396364T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2316A>G
  hgvsp: ENSP00000322219.6:p.Ile772Met
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*781A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*414A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.632A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile772Met
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

X-38129018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129018
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129018
    reference: chr 0
allele count: 3
allele frequency: 3.51493848857645e-5
allele num: 85350
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.172-396357G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*407C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.625C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2924C>T
  hgvsp: ENSP00000343671.3:p.Pro975Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*441C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2123C>T
  hgvsp: ENSP00000308783.3:p.Pro708Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2309C>T
  hgvsp: ENSP00000322219.6:p.Pro770Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*774C>T
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro770Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-38129023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129023
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129023
    reference: chr 0
allele count: 1
allele frequency: 1.181097712213731e-5
allele num: 84667
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*402G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.620G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396352C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2919G>A
  hgvsp: ENST00000339363.3:c.2919G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2118G>A
  hgvsp: ENST00000309513.3:c.2118G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2304G>A
  hgvsp: ENST00000318842.7:c.2304G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*769G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*436G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro768Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

X-38129024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129024
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129024
    reference: chr 0
allele count: 1
allele frequency: 1.183011948420679e-5
allele num: 84530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*401C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*435C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2117C>T
  hgvsp: ENSP00000308783.3:p.Pro706Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.619C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2303C>T
  hgvsp: ENSP00000322219.6:p.Pro768Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*768C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2918C>T
  hgvsp: ENSP00000343671.3:p.Pro973Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396351G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro768Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

X-38129025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129025
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129025
    reference: chr 0
allele count: 821
allele frequency: 9.740991659053427e-3
allele num: 84283
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2917C>A
  hgvsp: ENSP00000343671.3:p.Pro973Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*767C>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*434C>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396350G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2116C>A
  hgvsp: ENSP00000308783.3:p.Pro706Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.618C>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2302C>A
  hgvsp: ENSP00000322219.6:p.Pro768Thr
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*400C>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 1.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 33250
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43054
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 6.75e1
  variant carriers: 8
hgvs: p.Pro768Thr
num of homozygotes: 37
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

X-38129026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129026
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129026
    reference: chr 0
allele count: 1
allele frequency: 1.188919272381405e-5
allele num: 84110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2115G>A
  hgvsp: ENST00000309513.3:c.2115G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2301G>A
  hgvsp: ENST00000318842.7:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*433G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*399G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396349C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2916G>A
  hgvsp: ENST00000339363.3:c.2916G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*766G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.617G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu767Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

X-38129028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129028
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129028
    reference: chr 0
allele count: 1
allele frequency: 1.195685965038142e-5
allele num: 83634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*431G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396347C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*397G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2113G>A
  hgvsp: ENSP00000308783.3:p.Glu705Lys
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2914G>A
  hgvsp: ENSP00000343671.3:p.Glu972Lys
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.615G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2299G>A
  hgvsp: ENSP00000322219.6:p.Glu767Lys
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*764G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu767Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-38129041-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129041
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129041
    reference: chr 0
allele count: 1
allele frequency: 1.230784378884663e-5
allele num: 81249
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.602C>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2286C>G
  hgvsp: ENST00000318842.7:c.2286C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2901C>G
  hgvsp: ENST00000339363.3:c.2901C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*384C>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*418C>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2100C>G
  hgvsp: ENST00000309513.3:c.2100C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396334G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*751C>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val762Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

X-38129058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129058
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129058
    reference: chr 0
allele count: 1
allele frequency: 1.31466508906856e-5
allele num: 76065
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.585A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2083A>G
  hgvsp: ENSP00000308783.3:p.Ile695Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2269A>G
  hgvsp: ENSP00000322219.6:p.Ile757Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2884A>G
  hgvsp: ENSP00000343671.3:p.Ile962Val
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396317T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*367A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*734A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*401A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30525
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile757Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-38129060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129060
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129060
    reference: chr 0
allele count: 39
allele frequency: 5.153413145167684e-4
allele num: 75678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*399C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*732C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2882C>T
  hgvsp: ENSP00000343671.3:p.Ser961Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*365C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396315G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.583C>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2081C>T
  hgvsp: ENSP00000308783.3:p.Ser694Leu
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2267C>T
  hgvsp: ENSP00000322219.6:p.Ser756Leu
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8748
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9701
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30314
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser756Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

X-38129071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129071
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129071
    reference: chr 0
allele count: 2
allele frequency: 2.842120221685377e-5
allele num: 70370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.572A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*721A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396304T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*388A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2070A>C
  hgvsp: ENSP00000308783.3:p.Lys690Asn
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2256A>C
  hgvsp: ENSP00000322219.6:p.Lys752Asn
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*354A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2871A>C
  hgvsp: ENSP00000343671.3:p.Lys957Asn
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2939
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys752Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

X-38129081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129081
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129081
    reference: chr 0
allele count: 1
allele frequency: 1.565753832182504e-5
allele num: 63867
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2246T>C
  hgvsp: ENSP00000322219.6:p.Phe749Ser
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.562T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2060T>C
  hgvsp: ENSP00000308783.3:p.Phe687Ser
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396294A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*711T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*378T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*344T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2861T>C
  hgvsp: ENSP00000343671.3:p.Phe954Ser
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe749Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

X-38129090-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129090
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129091
    reference: chr 0
allele count: 1
allele frequency: 1.637384769046878e-5
allele num: 61073
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-6dupT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396278dupA
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2857-6dupT
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

X-38129090-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129090
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129089
    reference: chr 0
allele count: 1
allele frequency: 1.637384769046878e-5
allele num: 61073
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-6delT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396278delA
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24674
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2056-6delT
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: GA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

X-38129091-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129091
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129091
    reference: chr 0
allele count: 8
allele frequency: 1.314557076425062e-4
allele num: 60857
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-6T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396284A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-6T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24868
  bin: 2.25e1
  variant carriers: 0
hgvs: n.558-6T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

X-38129093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129093
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129093
    reference: chr 0
allele count: 290
allele frequency: 4.815915771293821e-3
allele num: 60217
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396282A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-8T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-8T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6750
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 2.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 25023
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 1
hgvs: n.558-8T>C
num of homozygotes: 3
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

X-38129100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129100
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129100
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 57037
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396275A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-15T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-15T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-38129108-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129108
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129108
    reference: chr 0
allele count: 1
allele frequency: 1.840129545119977e-5
allele num: 54344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396267A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-23T>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-23T>A
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

X-38129112-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129112
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129110
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 52258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-29_2857-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-29_2242-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-29_*340-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-29_2056-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-29_558-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-29_*374-28delAA
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396262_172-396261delTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-29_*707-28delAA
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14834
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: ATT
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-38129113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129113
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129113
    reference: chr 0
allele count: 1
allele frequency: 1.942577411709857e-5
allele num: 51478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396262T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-28A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-28A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-38129115-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129115
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129117
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 50921
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-31_2857-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-31_*340-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-31_558-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396259_172-396258insGA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-31_*374-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-31_2056-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-31_2242-30insCT
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-31_*707-30insCT
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11127
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-38129119-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129119
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129119
    reference: chr 0
allele count: 1
allele frequency: 2.018693098088298e-5
allele num: 49537
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396256T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-34A>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-34A>C
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11928
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

X-38129120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129120
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129120
    reference: chr 0
allele count: 1
allele frequency: 2.037988098149507e-5
allele num: 49068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396255C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-35G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-35G>T
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12095
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

X-38129121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129121
    reference: chr 0
allele count: 2
allele frequency: 4.103237454351483e-5
allele num: 48742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396254C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-36G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-36G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

X-38129122-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129122
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129122
    reference: chr 0
allele count: 2
allele frequency: 4.112349385203767e-5
allele num: 48634
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396253A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-37T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-37T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 17922
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genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

X-38129136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038129136
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038129136
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 43632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*707-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2242-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2056-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.558-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2857-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-396239C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*340-51G>A
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*374-51G>A
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20073
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

X-38132590-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038132590
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038132590
    reference: chr 0
allele count: 1
allele frequency: 2.751940117783037e-5
allele num: 36338
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.172-392785C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.557+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*339+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2055+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*373+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2856+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*706+49G>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2241+49G>T
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6881
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-38132591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038132591
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038132591
    reference: chr 0
allele count: 1
allele frequency: 2.730748225013654e-5
allele num: 36620
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.172-392784A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.557+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*339+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*706+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2241+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2055+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2856+48T>C
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*373+48T>C
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12660
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

X-38132597-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038132597
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038132597
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 36896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2055+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2856+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.557+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*339+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-392778T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*706+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2241+42A>T
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*373+42A>T
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18942
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4660
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-38132597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24038132597
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24038132597
    reference: chr 0
allele count: 43
allele frequency: 1.165437987857762e-3
allele num: 36896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl transcript: ENST00000476559
  gene symbol: RPGR
  hgvsc: ENST00000476559.1:n.557+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000418926
  ensembl transcript: ENST00000474584
  gene symbol: RPGR
  hgvsc: ENST00000474584.1:c.*373+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000419276
  ensembl transcript: ENST00000482855
  gene symbol: RPGR
  hgvsc: ENST00000482855.1:c.*339+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000322219
  ensembl transcript: ENST00000318842
  gene symbol: RPGR
  hgvsc: ENST00000318842.7:c.2241+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000340208
  ensembl transcript: ENST00000338898
  gene symbol: RPGR
  hgvsc: ENST00000338898.3:c.*706+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000308783
  ensembl transcript: ENST00000309513
  gene symbol: RPGR
  hgvsc: ENST00000309513.3:c.2055+42A>G
  variant of: http://identifiers.org/hgnc/10295
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000250349
  ensembl protein: ENSP00000417050
  ensembl transcript: ENST00000465127
  gene symbol: TM4SF2
  hgvsc: ENST00000465127.1:c.172-392778T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000156313
  ensembl protein: ENSP00000343671
  ensembl transcript: ENST00000339363
  gene symbol: RPGR
  hgvsc: ENST00000339363.3:c.2856+42A>G
  variant of: http://identifiers.org/hgnc/10295
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18942
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13182
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13429
  bin: 7.5e0
  variant carriers: 3
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.686395080707148e-4
allele num: 1301
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 245
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1869
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

FS
type: SiteQuality
SIO_000300: 4.683e0

DP
type: SiteQuality
SIO_000300: 1.74359e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.76e-2

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 2241
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1599
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1117
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 111
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 213
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 1.61663e5

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 255
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.023e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.41226e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.420000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.928e1

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 6.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.12792e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.82e-2

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2011
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 179
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.881987577639751e-4
allele num: 2576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2417
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1505
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.13734e5

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.933e0

VQSLOD
type: SiteQuality
SIO_000300: -1.747e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.22e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 5.833e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2601
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14565
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1583
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.039e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.65353e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 215
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1653
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2713
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 5.00512e5

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4111
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 7.590132827324478e-4
allele num: 5270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 2.153e1

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.30493e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29193
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4691
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 387
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4837
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2847
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6159
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 8.78052e5

VQSLOD
type: SiteQuality
SIO_000300: -2.142e0

QD
type: SiteQuality
SIO_000300: 4.94e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.277936211361327e-5
allele num: 30507
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

VQSLOD
type: SiteQuality
SIO_000300: -1.486e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

DP
type: SiteQuality
SIO_000300: 9.0966e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 409
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5127
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7169
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.509017718469682e-5
allele num: 31549
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 9.35201e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

FS
type: SiteQuality
SIO_000300: 1.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31639
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3087
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.395089285714286e-4
allele num: 7168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4967
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.341e0

FS
type: SiteQuality
SIO_000300: 1.885e0

QD
type: SiteQuality
SIO_000300: 1.42e1

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 9.39729e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5183
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.44654997830175e-4
allele num: 6913
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32233
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 425
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -1.634e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 9.51105e5

FS
type: SiteQuality
SIO_000300: 3.475e0

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.399e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 425
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3197
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.118665211289568e-5
allele num: 32065
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5133
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7151
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

DP
type: SiteQuality
SIO_000300: 9.37281e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.812e0

African
type: Population
allele count: 7
allele frequency: 1.414713015359741e-3
allele num: 4948
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.213753106876554e-4
allele num: 4828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 419
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6863
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3191
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6851
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.97026e5

QD
type: SiteQuality
SIO_000300: 1.325e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3163
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6761
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30883
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4683
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.458e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.66411e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.907e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28511
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.651e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 2.524e1

DP
type: SiteQuality
SIO_000300: 7.55123e5

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6223
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3459
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.139038651378237e-4
allele num: 26338
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.317e0

QD
type: SiteQuality
SIO_000300: 2.426e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 6.95877e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 3.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2899
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.825993801890041e-5
allele num: 26137
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3405
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 365
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.06e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.121e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.272e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 6.91707e5

East Asian
type: Population
allele count: 190
allele frequency: 5.991800693787449e-2
allele num: 3171
num of homozygotes: 3

Latino
type: Population
allele count: 846
allele frequency: 1.884606816662954e-1
allele num: 4489
num of homozygotes: 74

South Asian
type: Population
allele count: 1916
allele frequency: 3.095815155921797e-1
allele num: 6189
num of homozygotes: 130

Other
type: Population
allele count: 137
allele frequency: 3.805555555555555e-1
allele num: 360
num of homozygotes: 14

European (Non-Finnish)
type: Population
allele count: 12284
allele frequency: 4.847671665351224e-1
allele num: 25340
num of homozygotes: 1906

African
type: Population
allele count: 343
allele frequency: 9.42048887668223e-2
allele num: 3641
num of homozygotes: 11

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 7.58793e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.402e0

QD
type: SiteQuality
SIO_000300: 2.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.149e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.446e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3017
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 297
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3407
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3809
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.552152317880795e-4
allele num: 19328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 1.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.879e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.615e0

DP
type: SiteQuality
SIO_000300: 6.2891e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2349
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5553
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.84359e5

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

FS
type: SiteQuality
SIO_000300: 3.256e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.384e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.356e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16789
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2627
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2345
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.653e1

DP
type: SiteQuality
SIO_000300: 5.77711e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1269
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1817
num of homozygotes: 0

African
type: Population
allele count: 135
allele frequency: 7.696693272519954e-2
allele num: 1754
num of homozygotes: 6

Latino
type: Population
allele count: 7
allele frequency: 5.443234836702955e-3
allele num: 1286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.055631795629684e-4
allele num: 9473
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 203
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

DP
type: SiteQuality
SIO_000300: 4.66068e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.73e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1956
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5333
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.504664459825459e-4
allele num: 6646
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 541
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.631e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 3.268e1

DP
type: SiteQuality
SIO_000300: 1.174244e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 541
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.55924655781338e-5
allele num: 39074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

DP
type: SiteQuality
SIO_000300: 1.182168e6

MQ
type: SiteQuality
SIO_000300: 5.795e1

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeQuality
all individuals: 8010
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 822
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 345
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variant carriers: 0

GenotypeQuality
all individuals: 780
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 541
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.552062066149449e-5
allele num: 39184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8613
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8855
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.189315e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.083e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 342
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GenotypeQuality
all individuals: 542
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5369
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8853
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.495662578522285e-4
allele num: 6686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39186
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.194726e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 541
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8845
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.556302563971472e-5
allele num: 39119
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

DP
type: SiteQuality
SIO_000300: 1.201872e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.042e1

GenotypeQuality
all individuals: 3985
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 811
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5387
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3993
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39315
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6712
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Latino
type: Population
allele count: 1
allele frequency: 1.16211504938989e-4
allele num: 8605
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 545
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.622e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3075
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 281
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8633
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 3.376857271499324e-4
allele num: 8884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39447
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5421
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 1.703e0

DP
type: SiteQuality
SIO_000300: 1.237976e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.114e0

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 339
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 3072
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4001
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8651
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8917
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.523404577455904e-5
allele num: 39629
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: -3.756e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.259261e6

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

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

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 1.126887536623845e-3
allele num: 4437
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.52613717940351e-5
allele num: 45969
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9193
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.512066e6

FS
type: SiteQuality
SIO_000300: 2.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e0

QD
type: SiteQuality
SIO_000300: 1.991e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.67e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: -7.247e-1

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

GenotypeQuality
all individuals: 564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1891
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variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6551
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4463
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9221
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8091
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.004722194313272e-4
allele num: 9953
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.53024e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1428
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variant carriers: 0

GenotypeQuality
all individuals: 48614
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variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
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GenotypeQuality
all individuals: 3950
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.000900810729657e-4
allele num: 9991
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8159
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6577
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4477
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 1.2303e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

QD
type: SiteQuality
SIO_000300: 1.467e1

DP
type: SiteQuality
SIO_000300: 1.538915e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 566
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.214519018017069e-5
allele num: 47455
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8281
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

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: 627
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.553094e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

GenotypeQuality
all individuals: 568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 914
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47916
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.181614084839891e-4
allele num: 8463
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.564885e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -3.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.595e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 351
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variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08672426025625e-5
allele num: 47922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.888e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.437e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 2.907e1

DP
type: SiteQuality
SIO_000300: 1.56512e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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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: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50165
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GenotypeQuality
all individuals: 921
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.074344649763644e-4
allele num: 9308
num of homozygotes: 0

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

African
type: Population
allele count: 21
allele frequency: 2.480803307737743e-3
allele num: 8465
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10105
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47897
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.593e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

DP
type: SiteQuality
SIO_000300: 1.566177e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.505e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 66
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GenotypeQuality
all individuals: 916
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 915
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.924573243350536e-5
allele num: 10076
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47757
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.418e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 1.559761e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.54e-1

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

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

GenotypeQuality
all individuals: 173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8383
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47336
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.002002002002002e-4
allele num: 9990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4511
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.03e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

DP
type: SiteQuality
SIO_000300: 1.546279e6

QD
type: SiteQuality
SIO_000300: 3.395e1

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3974
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47986
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.077354018530489e-4
allele num: 9282
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9991
num of homozygotes: 0

African
type: Population
allele count: 26
allele frequency: 3.101514970774186e-3
allele num: 8383
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4511
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47339
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.154e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.838e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e0

FS
type: SiteQuality
SIO_000300: 1.955e0

VQSLOD
type: SiteQuality
SIO_000300: 7.01e0

DP
type: SiteQuality
SIO_000300: 1.54725e6

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

GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48074
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 562
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.521375323292256e-4
allele num: 6573
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9283
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.312492542656008e-3
allele num: 8381
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4511
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.225471140032114e-5
allele num: 47332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.918e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 2.011e1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.546317e6

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 895
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variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
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variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3962
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.199328376109379e-4
allele num: 8338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4501
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9941
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6541
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.2308e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.192e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: -1.239e0

DP
type: SiteQuality
SIO_000300: 1.533879e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

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

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

GenotypeQuality
all individuals: 338
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 45337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 556
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variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3879
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6475
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 609
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46453
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9845
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.256975355553143e-4
allele num: 9211
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8277
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.516903e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 607
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8217
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6443
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.173676774263667e-5
allele num: 46005
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9167
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 2.095e1

FS
type: SiteQuality
SIO_000300: 8.569000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.685e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.500757e6

GenotypeQuality
all individuals: 554
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8211
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4453
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6439
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.178886588953045e-5
allele num: 45895
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.457e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.185e0

DP
type: SiteQuality
SIO_000300: 1.497231e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 380
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 853
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 3545
bin: 9.75e1
variant carriers: 691

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 408
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 375
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 11

Latino
type: Population
allele count: 46
allele frequency: 5.030071077091307e-3
allele num: 9145
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4449
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

African
type: Population
allele count: 759
allele frequency: 9.278728606356969e-2
allele num: 8180
num of homozygotes: 37

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.623180168757924e-4
allele num: 45746
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.958677685950414e-3
allele num: 605
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.524628e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.863e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 2.069e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.697e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.947e0

GenotypeQuality
all individuals: 43412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5527
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9133
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45651
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.228350325512836e-4
allele num: 8141
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4445
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9723
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.054e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.145e0

DP
type: SiteQuality
SIO_000300: 1.485442e6

QD
type: SiteQuality
SIO_000300: 1.674e1

FS
type: SiteQuality
SIO_000300: 1.685e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

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

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2941
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.032951141411011e-4
allele num: 9681
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4421
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8103
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45350
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.337e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.168e0

DP
type: SiteQuality
SIO_000300: 1.474948e6

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

GenotypeQuality
all individuals: 659
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 585
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.282271316414095e-5
allele num: 43816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7925
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6241
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.587e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.422475e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

GenotypeQuality
all individuals: 796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
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variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16092
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8375
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4067
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.697216564833673e-4
allele num: 5892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7513
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

QD
type: SiteQuality
SIO_000300: 1.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 3.414e0

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

DP
type: SiteQuality
SIO_000300: 1.31213e6

MQ
type: SiteQuality
SIO_000300: 5.854e1

GenotypeQuality
all individuals: 331
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 789
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variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2962
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1218
bin: 2.75e1
variant carriers: 1

South Asian
type: Population
allele count: 39
allele frequency: 4.327563249001331e-3
allele num: 9012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 557
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5877
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.974e0

FS
type: SiteQuality
SIO_000300: 2.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.160000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 2.229e1

DP
type: SiteQuality
SIO_000300: 1.30705e6

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
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variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.410230746341332e-5
allele num: 36967
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7152
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7803
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.206814e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 5.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e-1

GenotypeQuality
all individuals: 23670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
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variant carriers: 0

GenotypeQuality
all individuals: 2075
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variant carriers: 0

GenotypeQuality
all individuals: 638
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GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 477
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.027275754548482e-5
allele num: 33033
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4937
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.527e-1

FS
type: SiteQuality
SIO_000300: 1.0721e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.541e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

DP
type: SiteQuality
SIO_000300: 1.089255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeQuality
all individuals: 993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 7.5e0
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GenotypeQuality
all individuals: 683
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
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variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31405
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6541
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4715
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3407
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 463
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

MQ
type: SiteQuality
SIO_000300: 6.122e1

FS
type: SiteQuality
SIO_000300: 3.542e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

DP
type: SiteQuality
SIO_000300: 1.047284e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.887e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

GenotypeQuality
all individuals: 301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 195
bin: 8.75e1
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GenotypeQuality
all individuals: 2283
bin: 2.75e1
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GenotypeQuality
all individuals: 993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3407
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.18420633657061e-5
allele num: 31405
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 463
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4715
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6541
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.047284e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.122e1

QD
type: SiteQuality
SIO_000300: 1.887e1

FS
type: SiteQuality
SIO_000300: 3.542e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.042e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 947
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5274
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
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GenotypeQuality
all individuals: 2348
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 402
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 14853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
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GenotypeQuality
all individuals: 647
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variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
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variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 6.381620931716656e-4
allele num: 4701
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6599
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.27918132395267e-4
allele num: 31270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 459
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.942907592701589e-4
allele num: 3398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.624e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.038622e6

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

GenotypeQuality
all individuals: 1864
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 228
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5662
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 3117
bin: 9.75e1
variant carriers: 236

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 587
bin: 7.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 14165
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2220
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 10

Latino
type: Population
allele count: 18
allele frequency: 2.823972387825541e-3
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 267
allele frequency: 4.054054054054054e-2
allele num: 6586
num of homozygotes: 3

South Asian
type: Population
allele count: 2
allele frequency: 2.536783358701167e-4
allele num: 7884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3377
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.192982456140351e-3
allele num: 456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.476893681790213e-5
allele num: 30879
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4661
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.022128e6

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.489999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 1.886e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 9.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7655
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3257
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 435
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28971
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4411
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.448e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 9.62393e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 2.907e1

GenotypeQuality
all individuals: 534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9212
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7439
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4201
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.650700934579439e-5
allele num: 27392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3130
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

DP
type: SiteQuality
SIO_000300: 9.09228e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.071e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 3.078e0

QD
type: SiteQuality
SIO_000300: 6.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 2313
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10799
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26099
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4035
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5303
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6055
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.73e-2

FS
type: SiteQuality
SIO_000300: 1.5941e1

VQSLOD
type: SiteQuality
SIO_000300: -9.495e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 3.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.1e-1

DP
type: SiteQuality
SIO_000300: 8.74749e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.249e0

GenotypeQuality
all individuals: 1606
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10850
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3022
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.381788033715628e-4
allele num: 7237
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 393
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5991
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5143
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25723
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3969
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.1938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.247e0

MQ
type: SiteQuality
SIO_000300: 3.463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.571e0

DP
type: SiteQuality
SIO_000300: 8.74019e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

QD
type: SiteQuality
SIO_000300: 4.38e0

GenotypeQuality
all individuals: 3057
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7154
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3001
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25377
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 395
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5969
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3919
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.366e0

MQ
type: SiteQuality
SIO_000300: 3.768e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

FS
type: SiteQuality
SIO_000300: 4.717e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 8.67646e5

QD
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.611e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

GenotypeQuality
all individuals: 1980
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18962
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.068513771919118e-5
allele num: 24579
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7093
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4885
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

FS
type: SiteQuality
SIO_000300: 2.387e0

VQSLOD
type: SiteQuality
SIO_000300: -3.325e0

MQ
type: SiteQuality
SIO_000300: 3.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

DP
type: SiteQuality
SIO_000300: 8.43363e5

GenotypeQuality
all individuals: 203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.413028119259573e-4
allele num: 7077
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24275
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2895
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3785
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5833
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 385
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.39033e5

VQSLOD
type: SiteQuality
SIO_000300: -6.304999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5821
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24073
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.191993292810731e-4
allele num: 4771
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3756
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: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

MQ
type: SiteQuality
SIO_000300: 3.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.478e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.45e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.393e0

QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 8.34056e5

GenotypeQuality
all individuals: 12349
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17990
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2901
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1112
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.718213058419244e-4
allele num: 5820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3739
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.16649306278905e-5
allele num: 24001
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.997e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.793e1

VQSLOD
type: SiteQuality
SIO_000300: -8.867e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 8.29091e5

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 11858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5501
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5391
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3907
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21373
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2613
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.257e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.638e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.95872e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 3335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1365
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17157
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2011
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.228329809725158e-4
allele num: 2365
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 309
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.272e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

DP
type: SiteQuality
SIO_000300: 1.05686e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.866e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6397
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9938
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2391
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.647989452867502e-4
allele num: 6068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3003
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.058667e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.397e0

VQSLOD
type: SiteQuality
SIO_000300: -2.004e0

QD
type: SiteQuality
SIO_000300: 2.074e1

GenotypeQuality
all individuals: 1165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3035
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17393
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 317
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5567
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

DP
type: SiteQuality
SIO_000300: 1.073806e6

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 2.463e1